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Sample records for quantify developmental delay

  1. Use of information entropy measures of sitting postural sway to quantify developmental delay in infants.

    PubMed

    Deffeyes, Joan E; Harbourne, Regina T; DeJong, Stacey L; Kyvelidou, Anastasia; Stuberg, Wayne A; Stergiou, Nicholas

    2009-08-11

    By quantifying the information entropy of postural sway data, the complexity of the postural movement of different populations can be assessed, giving insight into pathologic motor control functioning. In this study, developmental delay of motor control function in infants was assessed by analysis of sitting postural sway data acquired from force plate center of pressure measurements. Two types of entropy measures were used: symbolic entropy, including a new asymmetric symbolic entropy measure, and approximate entropy, a more widely used entropy measure. For each method of analysis, parameters were adjusted to optimize the separation of the results from the infants with delayed development from infants with typical development. The method that gave the widest separation between the populations was the asymmetric symbolic entropy method, which we developed by modification of the symbolic entropy algorithm. The approximate entropy algorithm also performed well, using parameters optimized for the infant sitting data. The infants with delayed development were found to have less complex patterns of postural sway in the medial-lateral direction, and were found to have different left-right symmetry in their postural sway, as compared to typically developing infants. The results of this study indicate that optimization of the entropy algorithm for infant sitting postural sway data can greatly improve the ability to separate the infants with developmental delay from typically developing infants.

  2. Use of information entropy measures of sitting postural sway to quantify developmental delay in infants

    PubMed Central

    Deffeyes, Joan E; Harbourne, Regina T; DeJong, Stacey L; Kyvelidou, Anastasia; Stuberg, Wayne A; Stergiou, Nicholas

    2009-01-01

    Background By quantifying the information entropy of postural sway data, the complexity of the postural movement of different populations can be assessed, giving insight into pathologic motor control functioning. Methods In this study, developmental delay of motor control function in infants was assessed by analysis of sitting postural sway data acquired from force plate center of pressure measurements. Two types of entropy measures were used: symbolic entropy, including a new asymmetric symbolic entropy measure, and approximate entropy, a more widely used entropy measure. For each method of analysis, parameters were adjusted to optimize the separation of the results from the infants with delayed development from infants with typical development. Results The method that gave the widest separation between the populations was the asymmetric symbolic entropy method, which we developed by modification of the symbolic entropy algorithm. The approximate entropy algorithm also performed well, using parameters optimized for the infant sitting data. The infants with delayed development were found to have less complex patterns of postural sway in the medial-lateral direction, and were found to have different left-right symmetry in their postural sway, as compared to typically developing infants. Conclusion The results of this study indicate that optimization of the entropy algorithm for infant sitting postural sway data can greatly improve the ability to separate the infants with developmental delay from typically developing infants. PMID:19671183

  3. Literacy Activities for Developmentally Delayed Adults.

    ERIC Educational Resources Information Center

    Giordano, Gerard; D'Alonzo, Bruno J.

    1993-01-01

    Reviews six models of prereading programs for developmentally delayed adults: readinglike behavior, picture reading, global features of books, print in the environment, labeling, and rebus symbols. (SK)

  4. 34 CFR 303.10 - Developmental delay.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 34 Education 2 2011-07-01 2010-07-01 true Developmental delay. 303.10 Section 303.10 Education Regulations of the Offices of the Department of Education (Continued) OFFICE OF SPECIAL EDUCATION AND REHABILITATIVE SERVICES, DEPARTMENT OF EDUCATION EARLY INTERVENTION PROGRAM FOR INFANTS AND TODDLERS WITH...

  5. 34 CFR 303.10 - Developmental delay.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 34 Education 2 2010-07-01 2010-07-01 false Developmental delay. 303.10 Section 303.10 Education Regulations of the Offices of the Department of Education (Continued) OFFICE OF SPECIAL EDUCATION AND REHABILITATIVE SERVICES, DEPARTMENT OF EDUCATION EARLY INTERVENTION PROGRAM FOR INFANTS AND TODDLERS WITH...

  6. Reconceptualizing Family Adaptation to Developmental Delay.

    PubMed

    Pedersen, Anita L; Crnic, Keith A; Baker, Bruce L; Blacher, Jan

    2015-07-01

    This study explores accurate conceptualization of the adaptation construct in families of children with developmental delay aged 3 to 8 years. Parents' self-reported measures of adaptation and observed dyadic relationship variables were examined. Confirmatory factor analysis and longitudinal growth modeling were used to evaluate the nature of adaptational processes. Results indicate that adaptational processes vary across adaptation index, child developmental level, and parent gender. Adaptation indices did not load onto a single construct at any time point. Several adaptational processes remained stable across time, although others showed linear or quadratic change. The findings of the current study indicate that it is time for a change in how adaptation is conceived for families of children with developmental delay.

  7. Parents' reports predict abnormal investigations in global developmental delay.

    PubMed

    Tervo, Raymond C; Asis, Martin

    2009-06-01

    To identify symptoms reported by parents that predict abnormal laboratory investigations in preschoolers with global developmental delay (GDD). A cross-sectional descriptive study of 81 boys and 38 girls, with a mean age of 43.5 months (SD = 13.4), with global developmental delay. All parents/guardians completed the following: (1) a semistructured interview about their child and family; (2) the Child Development Inventory (CDI); (3) the Possible Problems Checklist (PPC); and (4) the Child Behavior Checklist 1(1/2)-5 (CBCL). There were 61 abnormal results: MRI 37 (31%); high-resolution chromosomes 8 (7%); fragile X molecular testing 4 (3%); and microarray comparative genomic hybridization 12 (10%). A total of 47 children had abnormal tests (40%): none, 72 (60%); one, 36 (30%); two, 8 (7%); three, (3%). Younger children with more developmental delays are more likely to have abnormal tests. They are clumsy, more passive, and less disobedience. They had lower total, externalizing, and internalizing problems scores. The odds of finding an abnormal investigation are increasingly greater as parent's report of language comprehension and social development ratios increase, and decrease in likelihood for every increase in the expressive language and fine motor ratios. Parent's reports predict abnormal tests and indicate quantifiable differences requiring investigation.

  8. Early child development and developmental delay in indigenous communities.

    PubMed

    Cappiello, Matthew M; Gahagan, Sheila

    2009-12-01

    Developmental delay is common and often responds to early intervention. As with other health outcomes, the prevalence of developmental delay may be socially determined. Children in many Indigenous communities experience increased risk for developmental delay. This article highlights special conditions in Indigenous communities related to child development. It addresses the challenges of screening and evaluation for developmental delay in the context of Indigenous cultures, and in settings where resources are often inadequate. It is clear that careful research on child development in Indigenous settings is urgently needed. Intervention strategies tied to cultural traditions could enhance interest, acceptability, and ultimately developmental outcomes in children at risk.

  9. Menstrual management in developmentally delayed adolescent females.

    PubMed

    Chuah, Irene; McRae, Alexandra; Matthews, Kim; Maguire, Ann M; Steinbeck, Katharine

    2017-06-01

    Requests for assistance in menstrual management and menstrual suppression are a common, emotive and sometimes controversial aspect of adolescent disability care. To review the uptake and outcomes of menstrual suppression among adolescent patients with developmental delay. A retrospective review of the medical records of adolescent females with intellectual disability referred for menstrual management to the Paediatric and Adolescent Gynaecology Clinic, Children's Hospital at Westmead, Sydney, for the three-year period between January 1, 2010 and January 1, 2013. Eighty adolescent patients with developmental delay were identified. A third (n = 28) of the patients were pre-menarcheal at first review with parent/caregivers seeking anticipatory advice. Of the post-menarcheal patients, the median age of menarche was 12 years (range 10-15 years). First and second line interventions were documented as were reasons for change where applicable. The combined oral contraceptive pill (COCP) was the most frequently used therapy (67%), and 19 patients in total had a levonorgestrel releasing intrauterine system (LNG-IUS) inserted (31%). Our study population differs from similar previously published groups in the marked absence of the use of depot medroxyprogesterone acetate or the subdermal etonogestrel releasing device. As a paediatrician, it is important to address menstrual management issues and allay caregiver concerns with appropriate advice. Our study supports the use of the COCP as sound first line management in achieving menstrual suppression. The LNG-IUS appears to be a favourable second line option. Further investigation into longer-term outcomes and potential complications of device insertion is recommended. © 2017 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  10. Smart Toys Designed for Detecting Developmental Delays

    PubMed Central

    Rivera, Diego; García, Antonio; Alarcos, Bernardo; Velasco, Juan R.; Ortega, José Eugenio; Martínez-Yelmo, Isaías

    2016-01-01

    In this paper, we describe the design considerations and implementation of a smart toy system, a technology for supporting the automatic recording and analysis for detecting developmental delays recognition when children play using the smart toy. To achieve this goal, we take advantage of the current commercial sensor features (reliability, low consumption, easy integration, etc.) to develop a series of sensor-based low-cost devices. Specifically, our prototype system consists of a tower of cubes augmented with wireless sensing capabilities and a mobile computing platform that collect the information sent from the cubes allowing the later analysis by childhood development professionals in order to verify a normal behaviour or to detect a potential disorder. This paper presents the requirements of the toy and discusses our choices in toy design, technology used, selected sensors, process to gather data from the sensors and generate information that will help in the decision-making and communication of the information to the collector system. In addition, we also describe the play activities the system supports. PMID:27879626

  11. Smart Toys Designed for Detecting Developmental Delays.

    PubMed

    Rivera, Diego; García, Antonio; Alarcos, Bernardo; Velasco, Juan R; Ortega, José Eugenio; Martínez-Yelmo, Isaías

    2016-11-20

    In this paper, we describe the design considerations and implementation of a smart toy system, a technology for supporting the automatic recording and analysis for detecting developmental delays recognition when children play using the smart toy. To achieve this goal, we take advantage of the current commercial sensor features (reliability, low consumption, easy integration, etc.) to develop a series of sensor-based low-cost devices. Specifically, our prototype system consists of a tower of cubes augmented with wireless sensing capabilities and a mobile computing platform that collect the information sent from the cubes allowing the later analysis by childhood development professionals in order to verify a normal behaviour or to detect a potential disorder. This paper presents the requirements of the toy and discusses our choices in toy design, technology used, selected sensors, process to gather data from the sensors and generate information that will help in the decision-making and communication of the information to the collector system. In addition, we also describe the play activities the system supports.

  12. Measuring Representative Communication in Young Children with Developmental Delay

    PubMed Central

    Yoder, Paul

    2014-01-01

    Generalizability and decision studies provide a mathematical framework for quantifying the stability of a given number of measurements. This approach is especially relevant to the task of obtaining a representative measure of communicative behavior in young children and supports an alternative to the debate regarding which type of assessment yields the most representative scores. The current paper provides a report of a generalizability and decision study on 63 toddlers with developmental delay who were treated for 6 months using an intervention that targeted communication and vocabulary goals. Two variables - rate of intentional communication acts and rate of different words - were measured across three assessment contexts at four communication sampling periods. Results verified that measurement stability increased with time and development for both variables, regardless of the type of assessment procedure used. PMID:25364089

  13. Developmental delay and poverty in the strabismus clinic.

    PubMed

    Peters, G B; Simon, J W; Zobal-Ratner, J; Malone, A

    1999-12-01

    Strabismus and poverty are more common among developmentally delayed children. Poverty is difficult to define, but qualification for Medicaid benefits has been used as an indicator in the past. There was a retrospective review of 95 patients with strabismus younger than 7 years who were seen in the Department of Pediatric Ophthalmology at the Albany Medical Center for a 12-month period and were reviewed for the presence or absence of developmental delay. These patients were selected from 2 groups: one with Medicaid coverage and one without. Developmental delays were noted in 13 patients without Medicaid (27.0%) and in 26 patients with Medicaid (55.3%) (P = .0096). Patients with Medicaid were less likely to name Allen pictures by age 3 years (P = .0003). Poverty is more commonly associated with delays in patients with strabismus, and this should alert ophthalmologists who work with Medicaid patients to seek to identify the presence of developmental delay in managing the care of these patients.

  14. Neuropsychomotor developmental delay: conceptual map, term definitions, uses and limitations

    PubMed Central

    Dornelas, Lílian de Fátima; Duarte, Neuza Maria de Castro; Magalhães, Lívia de Castro

    2015-01-01

    OBJECTIVE: To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. DATA SOURCE: A literature search was performed in the SciELO Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online, and Springer databases, from January of 1940 to January of 2013, using the following keywords: NPMD delay, NPMD retardation, developmental delay, and global developmental delay. A total of 71 articles were selected, which were used to build the conceptual map of the term. DATA SYNTHESIS: Of the 71 references, 55 were international and 16 national. The terms developmental delay and global developmental delay were the most frequently used in the international literature and, in Brazil, delayed NPMD was the most often used. The term developmental delay emerged in the mid 1940s, gaining momentum in the 1990s. In Brazil, the term delayed NPMD started to be used in the 1980s, and has been frequently cited and published in the literature. Delayed development was a characteristic of 13 morbidities described in 23 references. Regarding the type of use, 19 references were found, with seven forms of use. Among the references, 34 had definitions of the term, and 16 different concepts were identified. CONCLUSIONS: Developmental delay is addressed in the international and national literature under different names, various applications, and heterogeneous concepts. Internationally, ways to improve communication between professionals have been indicated, with standardized definition of the term and use in very specific situations up to the fifth year of life, which was not found in Brazilian publications. PMID:25662016

  15. [Neuropsychomotor developmental delay: conceptual map, term definitions, uses and limitations].

    PubMed

    Dornelas, Lílian de Fátima; Duarte, Neuza Maria de Castro; Magalhães, Lívia de Castro

    2015-01-01

    To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. A literature search was performed in the SciELO Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online, and Springer databases, from January of 1940 to January of 2013, using the following keywords NPMD delay, NPMD retardation, developmental delay, and global developmental delay. A total of 71 articles were selected, which were used to build the conceptual map of the term. Of the 71 references, 55 were international and 16 national. The terms developmental delay and global developmental delay were the most frequently used in the international literature and, in Brazil, delayed NPMD was the most often used. The term developmental delay emerged in the mid 1940s, gaining momentum in the 1990 s. In Brazil, the term delayed NPMD started to be used in the 1980s, and has been frequently cited and published in the literature. Delayed development was a characteristic of 13 morbidities described in 23 references. Regarding the type of use, 19 references were found, with seven forms of use. Among the references, 34 had definitions of the term, and 16 different concepts were identified. Developmental delay is addressed in the international and national literature under different names, various applications, and heterogeneous concepts. Internationally, ways to improve communication between professionals have been indicated, with standardized definition of the term and use in very specific situations up to the fifth year of life, which was not found in Brazilian publications. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  16. Maternal Obesity: Risks for Developmental Delays in Early Childhood.

    PubMed

    Duffany, Kathleen O'Connor; McVeigh, Katharine H; Kershaw, Trace S; Lipkind, Heather S; Ickovics, Jeannette R

    2016-02-01

    To assess the risk for neurodevelopmental delays for children of mothers who were obese (≥200 pounds) prior to pregnancy, and to characterize delays associated with maternal obesity among children referred to and found eligible to receive Early Intervention Program services. We conducted a retrospective cohort study (N = 541,816) using a population-based New York City data warehouse with linked birth and Early Intervention data. Risks for children suspected of a delay and 'significantly delayed', with two moderate or one severe delay, were calculated. Among the group of children eligible by delay for Early Intervention, analyses assessed risk for being identified with a moderate-to-severe delay across each of five functional domains as well as risks for multiple delays. Children of mothers who were obese were more likely to be suspected of a delay (adjusted RR 1.19 [CI 1.15-1.22]) and borderline association for 'significantly delayed' (adjusted RR 1.01 [CI 1.00-1.02). Among children eligible by delay, children of mothers who were obese evidenced an increased risk for moderate-to-severe cognitive (adjusted RR 1.04 [CI 1.02-1.07]) and physical (adjusted RR 1.04 [CI 1.01-1.08]) delays and for global developmental delay (adjusted RR 1.05 [CI 1.01-1.08]). Maternal obesity is associated with increased risk of developmental delay in offspring. Among children with moderate or severe delays, maternal obesity is associated with increased risk of cognitive and physical delays as well as with increased risk for global developmental delay. While causation remains uncertain, this adds to the growing body of research reporting an association between maternal obesity and neurodevelopmental delays in offspring.

  17. Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

    PubMed

    Takenouchi, Toshiki; Kosaki, Rika; Niizuma, Takahiro; Hata, Kenichiro; Kosaki, Kenjiro

    2015-11-01

    The combinatory phenotype of thrombocytopenia and developmental delay has been described for two genetic conditions: a chromosome 11q deletion that is referred to as Jacobsen syndrome, and a 21q22 microdeletion syndrome. Herein, we report a young girl who presented with persistent macrothrombocytopenia and a developmental delay. Whole exome sequencing revealed a de novo amino acid substitution in CDC42, a critical regulator of the cytoskeleton. Our observation recapitulates observations in mice lacking Cdc42. We suggest that this CDC42 mutation may represent yet another mechanism leading to the combinatory phenotype of persistent macrothrombocytopenia and developmental delay.

  18. Baclofen Withdrawal Presenting as Irritability in a Developmentally Delayed Child

    PubMed Central

    Lim, C. Anthoney; Cunningham, Sandra J.

    2012-01-01

    Irritability in children has a broad differential diagnosis, ranging from benign processes to life-threatening emergencies. In children with comorbid conditions and developmental delay, the diagnostic process becomes more challenging. This case report describes a developmentally delayed 14-year-old boy who presented with pain and crying caused by a malfunction of a surgically implanted baclofen pump. We describe recommendations concerning the diagnostic evaluation, medical management, and surgical repair. PMID:23251718

  19. Quantifying the complexity of the delayed logistic map.

    PubMed

    Masoller, Cristina; Rosso, Osvaldo A

    2011-01-28

    Statistical complexity measures are used to quantify the degree of complexity of the delayed logistic map, with linear and nonlinear feedback. We employ two methods for calculating the complexity measures, one with the 'histogram-based' probability distribution function and the other one with ordinal patterns. We show that these methods provide complementary information about the complexity of the delay-induced dynamics: there are parameter regions where the histogram-based complexity is zero while the ordinal pattern complexity is not, and vice versa. We also show that the time series generated from the nonlinear delayed logistic map can present zero missing or forbidden patterns, i.e. all possible ordinal patterns are realized into orbits.

  20. Promoting Healthy Weight among Children with Developmental Delays

    ERIC Educational Resources Information Center

    Natale, Ruby R.; Camejo, Stephanie T.; Asfour, Lila; Uhlhorn, Susan B.; Delamater, Alan; Messiah, Sarah E.

    2017-01-01

    An extensive body of research demonstrates a higher prevalence of obesity among children with developmental delays (DD) versus children without delays. This analysis examined the effectiveness of a randomized controlled trial to promote healthy weight in a subsample of preschool-age children with DD (n = 71) on the adoption of quality nutrition…

  1. Promoting Healthy Weight among Children with Developmental Delays

    ERIC Educational Resources Information Center

    Natale, Ruby R.; Camejo, Stephanie T.; Asfour, Lila; Uhlhorn, Susan B.; Delamater, Alan; Messiah, Sarah E.

    2017-01-01

    An extensive body of research demonstrates a higher prevalence of obesity among children with developmental delays (DD) versus children without delays. This analysis examined the effectiveness of a randomized controlled trial to promote healthy weight in a subsample of preschool-age children with DD (n = 71) on the adoption of quality nutrition…

  2. Quantifying migratory delay: a new application of survival analysis

    USGS Publications Warehouse

    Castro-Santos, Theodore; Haro, Alex

    2003-01-01

    Statistical techniques commonly used in fish passage research fail to adequately quantify delays incurred at obstacles, or the effects of modifications to those obstacles on passage rates. Analyses of telemetry data describing these effects can be misleading, particularly when passage route of some individuals is not established (e.g., because of mortality, tag failure, passage through unmonitored or alternate routes, etc.). Here, we demonstrate how event-time analysis, better known as survival analysis, can be used to quantify passage rates for any study that allows tracking of individuals through time, even when some individuals fail to pass the route or obstacle in question. We review two of the primary methods of event-time analysis (parametric and Cox's proportional hazards regression analyses) and use them in combination with logistic regression to provide unbiased estimates of delay incurred at a hydroelectric facility, as well as insights on factors affecting both rates of passage and route selection. Passage rate increased with increased depth of a surface bypass sluice gate and, among fish that passed through the turbines, with turbine flow. The data further indicate that risk of turbine passage increased with both delay and turbine flow.

  3. Maltreated infants and toddlers: predictors of developmental delay.

    PubMed

    Scarborough, Anita A; Lloyd, E Christopher; Barth, Richard P

    2009-12-01

    The aim of this study was to examine the relationship of child, caregiver, and maltreatment characteristics at the time of the investigation with low scores on developmental measures obtained 18 and 36 months after substantiation in a nationally representative sample of maltreated infants and toddlers. A proxy for developmental delay was constructed based on a criterion of 2 or more scores > or = 1 SD below the mean in the domains of adaptive behavior, cognition or communication at each assessment time point. Twenty-three percent of children were classified as having developmental delay, 26% with inconsistent low scores, and 51% with no low scores. An ordered logistic regression was conducted to determine factors associated with low scores. Case worker report of special needs at the time of the investigation, living in continuous poverty, and with caregiver characteristics of cognitive impairment and not having a high school education were associated with low scores. Failure to provide and "other" types of maltreatment, which included sexual abuse and abandonment, were more highly associated with low scores 18- and 36-month postinvestigation. A notable finding was that 15% of children were <6% height/weight. Parameter estimates from an ordered logistic regression are presented to explain the increased likelihood of low scores. Characteristics associated with low scores and the developmental delay proxy are identifiable at the time of investigation of maltreatment of infants and toddlers, emphasizing the urgency of providing early intervention developmental services to avoid developmental delay and to maximize outcomes in this highly vulnerable population.

  4. Toddlers with Developmental Delays and Challenging Behaviors

    ERIC Educational Resources Information Center

    Keller, Kathryn M.; Fox, Robert A.

    2009-01-01

    Behavior problems and parental expectations and practices were studied in a sample of 58 toddlers with developmental disabilities who were consecutively referred to a mental health clinic. The majority of children (70.7%) exceeded the clinical cut-off score for significant behavior problems including tantrums, aggression, defiance, and…

  5. Prenatal cell phone use and developmental milestone delays among infants.

    PubMed

    Divan, Hozefa A; Kheifets, Leeka; Olsen, Jørn

    2011-07-01

    The aim of this study was to examine if prenatal use of cell phones by pregnant mothers is associated with developmental milestones delays among offspring up to 18 months of age. Our work is based upon the Danish National Birth Cohort (DNBC), which recruited pregnant mothers from 1996-2002, and was initiated to collect a variety of detailed information regarding in utero exposures and various health outcomes. At the end of 2008, over 41,000 singleton, live births had been followed with the Age-7 questionnaire, which collected cell phone use exposure for mothers during pregnancy. Outcomes for developmental milestones were obtained from telephone interviews completed by mothers at age 6 and 18 months postpartum. A logistic regression model estimated the odds ratios (OR) for developmental milestone delays, adjusted for potential confounders. Less than 5% of children at age 6 and 18 months had cognitive/language or motor developmental delays. At 6 months, the adjusted OR was 0.8 [95% confidence interval (95% CI) 0.7-1.0] for cognitive/language delay and 0.9 (95% CI 0.8-1.1) for motor development delay. At 18 months, the adjusted OR were 1.1 (95% CI 0.9-1.3) and 0.9 (95% CI 0.8-1.0) for cognitive/language and motor development delay, respectively. No evidence of an association between prenatal cell phone use and motor or cognitive/language developmental delays among infants at 6 and 18 months of age was observed. Even when considering dose-response associations for cell phone, associations were null.

  6. Parenting Children with Developmental Delays: The Role of Positive Beliefs

    ERIC Educational Resources Information Center

    Paczkowski, Emilie; Baker, Bruce L.

    2008-01-01

    Parents of children with developmental delays consistently report higher levels of child behavior problems and also parenting stress than parents of typically developing children. This study examined how mothers' positive beliefs influence the relation between children's behavior problems and mothers' parenting stress among families of children…

  7. Identification of Early Risk Factors for Developmental Delay

    ERIC Educational Resources Information Center

    Delgado, Christine E. F.; Vagi, Sara J.; Scott, Keith G.

    2007-01-01

    Statewide birth certificate and preschool exceptionality records were integrated to identify risk factors for developmental delay (DD). Epidemiological methods were used to investigate both individual-level and population-level risk for DD associated with a number of child and maternal factors. Infants born with very low birth weight were at the…

  8. A Subtype of Speech Delay Associated with Developmental Psychosocial Involvement

    ERIC Educational Resources Information Center

    Hauner, Katherina K. Y.; Shriberg, Lawrence D.; Kwiatkowski, Joan; Allen, Chad T.

    2005-01-01

    This report presents findings supporting the hypothesis of a clinically relevant subtype of childhood speech sound disorder, provisionally titled speech delay--developmental psychosocial involvement (SD-DPI). Conversational speech samples from 29 children who met inclusionary criteria for SD-DPI were selected from a case record archive at a…

  9. Developmentally Delayed Musical Savant's Sensitivity to Tonal Structure.

    ERIC Educational Resources Information Center

    Miller, Leon K.

    1987-01-01

    A five-year-old developmentally delayed, musically gifted child with no formal musical training was asked to repeat passages on the piano. Analysis of responses to melodies in each of the 24 major and minor keys indicated sensitivity to aspects of diatonic structure exhibited by mature listeners. (Author)

  10. Supernumerary chromosome marker (1) in a developmentally delayed child

    SciTech Connect

    Lanphear, N.; Oppenheimer, S.; Lamb, A.

    1995-07-03

    A 15-month-old boy with mild developmental delay and several minor anomalies was found to be mosaic 46,XY/47,XY,+mar(1). The marker r(1) was a small de novo ring identified by FISH with a painting type DNA probe. 9 refs., 3 figs.

  11. Preschool Children With Developmental Delays and Limited English Proficiency

    ERIC Educational Resources Information Center

    Rodriguez, Cathi Draper; Higgins, Kyle

    2005-01-01

    The number of children with Limited English Proficiency (LEP) in schools is increasing drastically. Included in this number are young children with LEP and developmental delays. This article provides information on second-language acquisition, details the type of programming used to educate children with LEP, and offers strategies to use when…

  12. Religion and Families of Children with Developmental Delays.

    ERIC Educational Resources Information Center

    Weisner, Thomas S.; And Others

    1991-01-01

    Parents in 102 families of 3- to 5-year-old children with developmental delays were interviewed concerning religion. Although direct measures of peace of mind and emotional adjustment did not differ between religious and nonreligious families, religious parents more often emphasized parental nurturance and described their child as an opportunity…

  13. Collaborative Teaching of Motor Skills for Preschoolers with Developmental Delays

    ERIC Educational Resources Information Center

    Murata, Nathan M.; Tan, Carol A.

    2009-01-01

    The purpose of this paper is to describe collaborative teaching between preschool teachers, adapted physical educators, physical therapists, and occupational therapists of motor skills for preschoolers with developmental delays. The motor domain is typically taught by the classroom teacher who may have little to no knowledge of how to initiate a…

  14. Collaborative Teaching of Motor Skills for Preschoolers with Developmental Delays

    ERIC Educational Resources Information Center

    Murata, Nathan M.; Tan, Carol A.

    2009-01-01

    The purpose of this paper is to describe collaborative teaching between preschool teachers, adapted physical educators, physical therapists, and occupational therapists of motor skills for preschoolers with developmental delays. The motor domain is typically taught by the classroom teacher who may have little to no knowledge of how to initiate a…

  15. Preschool Children With Developmental Delays and Limited English Proficiency

    ERIC Educational Resources Information Center

    Rodriguez, Cathi Draper; Higgins, Kyle

    2005-01-01

    The number of children with Limited English Proficiency (LEP) in schools is increasing drastically. Included in this number are young children with LEP and developmental delays. This article provides information on second-language acquisition, details the type of programming used to educate children with LEP, and offers strategies to use when…

  16. Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones

    PubMed Central

    Bhaskar, P. A.; Jagannathan, K.; Valmikinathan, K.

    1974-01-01

    Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Marinesco-Sjögren and Marfan's syndromes. Images PMID:4448994

  17. Global developmental delay and its relationship to cognitive skills.

    PubMed

    Riou, Emilie M; Ghosh, Shuvo; Francoeur, Emmett; Shevell, Michael I

    2009-08-01

    Global developmental delay (GDD) is defined as evidence of significant delays in two or more developmental domains. Our study determined the cognitive skills of a cohort of young children with GDD. A retrospective chart review of all children diagnosed with GDD within a single developmental clinic was carried out. Scores on fine motor (Peabody Developmental Motor Scale 2), expressive language (Expressive One Word Picture Vocabulary Test) and receptive language (Reynell Developmental Language Scales or Clinical Evaluation of Language Fundamentals - Preschool 2) testing, and cognitive performance (Wechsler Preschool and Primary Scale of Intelligence, Third Edition) were obtained. A multiple regression analysis was performed and correlations obtained. Results from a total of 93 patients (86 males, seven females) were retained for analysis. Mean age was 3 years 8 months (SD 10mo, range 2.5-4.75y). Cognitive scores were widely distributed, with 73% of participants displaying a global IQ score of 70 or more, despite concurrent global delay. Significant correlation was present for fine motor and expressive language scores, when isolated and compared with cognitive performance (p values of 0.04 and 0.05 respectively). The conclusion was made that an initial diagnosis of GDD is not necessarily associated with objective cognitive impairment.

  18. Developmental and functional outcomes at school age of preschool children with global developmental delay.

    PubMed

    Shevell, Michael; Majnemer, Annette; Platt, Robert W; Webster, Richard; Birnbaum, Rena

    2005-08-01

    The later developmental trajectory of young children diagnosed early with global developmental delay was determined. Using a prospective study, preschool children diagnosed with global developmental delay were systematically reassessed during the early school years with standardized developmental and functional outcome measures (Battelle Developmental Inventory and Vineland Adaptive Behavior Scale). Of an original cohort of 99 children assessed and diagnosed at a mean age of 3.4 +/- 1.1 years, 48 were reassessed at a mean age of 7.3 +/- 0.9 years. Group performance on the Battelle Developmental Inventory overall was 66.4 +/- 4.3 (mean 100 +/- 15). Between 75% and 100% of the cohort performed at least 1.5 SD below the normative mean on the individual domains of the Battelle Developmental Inventory. Similarly, the group mean on the Vineland Adaptive Behavior Scale overall was 63.5 +/- 20.8 (mean 100 +/- 15), with between 61% and 76% of the cohort scoring more than 1.5 SD below the mean on each of the domains. Univariate and multivariate analyses on potential predictor variables identified a lack of an underlying etiology as predictive of poorer performance on the Battelle Developmental Inventory fine motor and motor domains and increasing severity of initial delay as predictive of poorer performance on the Vineland Adaptive Behavior Scale communication domain and overall score. Similarly, maternal employment and paternal postsecondary education improved Vineland Adaptive Behavior Scale communication scores, whereas paternal postsecondary education alone predicted better socialization and total scores on the Vineland Adaptive Behavior Scale. Children with early global developmental delay demonstrate persistent and consistently poor performance across all developmental and functional domains. Few variables are apparent at intake to predict later performance.

  19. Parenting Children with Developmental Delays: The Role of Positive Beliefs

    PubMed Central

    PACZKOWSKI, EMILIE; BAKER, BRUCE L.

    2009-01-01

    Parents of children with developmental delays consistently report higher levels of child behavior problems and also parenting stress than parents of typically developing children. This study examined how mothers' positive beliefs influence the relation between children's behavior problems and mothers' parenting stress among families of children who are developmentally delayed (DD: n = 72) or typically developing (TD: n = 95) and assessed at ages 3, 5, and 7 years. Positive beliefs had a main effect on parenting stress at all ages, which was mediated by child behavior problems for mothers in the DD group at every age and across time. In the TD group, mediation was found at age 3 years. Additionally, support was found for a moderation effect of positive beliefs on the relation between child behavior problems and parenting stress, but only in the DD group at age 3. These findings have implications for interventions drawing on Seligman's (1991) work on learned optimism, the positive counterpart of learned helplessness. PMID:20107620

  20. Behavior Problems in Toddlers with and without Developmental Delays: Comparison of Treatment Outcomes

    ERIC Educational Resources Information Center

    Holtz, Casey A.; Carrasco, Jennifer M.; Mattek, Ryan J.; Fox, Robert A.

    2009-01-01

    The purpose of this study is to examine the effectiveness of an in-home parent management program for toddlers with behavior problems and developmental delays by comparing outcomes for a group of toddlers with developmental delays (n = 27) and a group of toddlers without developmental delays (n = 27). The majority of children lived in single…

  1. Father's role in parent training for children with developmental delay.

    PubMed

    Bagner, Daniel M

    2013-08-01

    The current pilot study was a quasi-experimental examination of the impact of father involvement in parent training among 44 families with a young child who presented with elevated externalizing behavior problems and developmental delay. All families were offered to receive Parent-Child Interaction Therapy (PCIT), an evidence-based parent-training intervention, at a hospital-based outpatient clinic. Single-mother families were significantly more likely to drop out of treatment than two-parent families. Of the families that completed treatment, children from families in which a father participated in treatment had lower levels of parent-reported externalizing behavior problems than children from single-mother families and children from two-parent families in which the father did not participate in treatment. Additionally, children from father-involved families were significantly more compliant during a cleanup task than children from single-mother families following treatment. The current study is consistent with the limited research examining father involvement in parent training and extends the findings to children with developmental delay. These findings highlight the importance of involving fathers in parent training, particularly when working with children with developmental delay.

  2. Parent Concern and Enrollment in Intervention Services for Young Children with Developmental Delays: 2007 National Survey of Children's Health

    ERIC Educational Resources Information Center

    Marshall, Jennifer; Kirby, Russell S.; Gorski, Peter A.

    2016-01-01

    This study sought to address underenrollment and late entry to early intervention by identifying factors associated with parental concern and services for developmental delays. The authors analyzed responses from 27,566 parents of children from birth to age 5 from the 2007 National Survey of Children's Health to quantify and to identify factors…

  3. Parent Concern and Enrollment in Intervention Services for Young Children with Developmental Delays: 2007 National Survey of Children's Health

    ERIC Educational Resources Information Center

    Marshall, Jennifer; Kirby, Russell S.; Gorski, Peter A.

    2016-01-01

    This study sought to address underenrollment and late entry to early intervention by identifying factors associated with parental concern and services for developmental delays. The authors analyzed responses from 27,566 parents of children from birth to age 5 from the 2007 National Survey of Children's Health to quantify and to identify factors…

  4. Inhibition difficulties in preterm children: Developmental delay or persistent deficit?

    PubMed

    Réveillon, Morgane; Hüppi, Petra S; Barisnikov, Koviljka

    2017-03-09

    Among executive functions (EFs), research has highlighted specific inhibition difficulties in preterm children. The present paper reviews and classifies the studies that assessed response inhibition and interference control abilities in preterm children and adolescents aged 3 to 16 years. Most behavioral studies agree on a developmental delay at early school age in inhibition abilities and a catch-up before adolescence, with lesser response inhibition difficulties at pre-adolescence. However, persisting interference control difficulties have been reported into early adulthood. These results are discussed, along with functional magnetic resonance imaging (fMRI) findings. Finally, this paper outlines methodological issues that need to be overcome in order to define the developmental trajectory of inhibition abilities in the preterm population.

  5. Joint attention and language in autism and developmental language delay.

    PubMed

    Loveland, K A; Landry, S H

    1986-09-01

    The relationship of gestural joint attention behaviors and the development of effective communication skills in autism and developmental language delay (DLD) was investigated. Autistic and DLD children matched for MA and MLU were compared on measures of gestural joint attention behavior, personal pronoun use, and spontaneous communicative behavior. DLD children responded correctly to joint attention interactions more often than autistic children, and their spontaneous gestural behavior was more communicative and developmentally advanced. Correct production of "I/you" pronouns was related to number of spontaneous initiations for autistic but not for DLD children. Measures of spontaneous joint attention behaviors were in general not related to MA, CA, or MLU for either group. DLD children's performance suggests no special impairment of joint attention skills, whereas autistic children's performance suggests a joint attention deficit in addition to a language deficit.

  6. Genetics and the investigation of developmental delay/intellectual disability.

    PubMed

    Srour, Myriam; Shevell, Michael

    2014-04-01

    Global developmental delay and intellectual disabilities are common reasons for diagnostic assessment by paediatricians. There are a multiplicity of possible causes many of which have genetic, management and treatment implications for the child and family. Genetic causes are estimated to be responsible for approximately a quarter to one-half of identified cases. The multiplicity of individually rare genetic causes challenges the practitioner with respect to the selection of diagnostic tests and accurate diagnosis. To assist the practitioner practice guidelines have been formulated and these are reviewed and summarised in this particular article.

  7. Growth and nutritional risk in children with developmental delay.

    PubMed

    Malone, C; Sharif, F; Glennon-Slattery, C

    2016-11-01

    Nutritional risk impacts outcome in developmental delay. The main objectives were to identify the incidence and factors contributing to growth faltering. Clinical data review was completed for 500 patients with developmental delay accepted to an Early Intervention service. Data was collected using the standardised parent nutrition screening checklist prior to and at time of initial dietary assessment. Data was compared to nutritional assessment data, GOSH and FSAI dietary guidelines. Weight category was determined using RCPCH growth and BMI charts. Statistical analysis was conducted using Statistical Package for the Social Sciences version 20 (IBM Statistics 20.0). Nutritional risk was identified in 48.6 %. Weight categories were growth faltering (13.5 %), underweight (7.7 %), overweight (8.4 %) and obesity (4.3 %) at initial assessment. Growth faltering was correlated with age <1 year (p = 0.000) and with gestational age (p = 0.017) with highest rates identified in those born 32-36 weeks (3.6 %). Weight category was associated with introduction of solids pre 17 weeks recommendation (10.1 %), ANOVA demonstrating significance (P = 0.013). There was poor parental recognition of nutritional risk in 22.7 % of those assessed. Nutritional difficulties were common: 4.2 % were enterally fed, 7.7 % were on prescribed nutritional supplements, 29.1 % (n = 121) had feeding difficulties and 13.9 % (n = 58) had behavioural feeding difficulties. Iron intake did not meet the recommended intake in 20.9 % (n = 87), calcium in 4.5 % (n = 19). The prevalence of constipation was 21.6, 11.8 % of whom required medical management. Developmental delay predisposes to nutritional deficits which influence outcome. Screening, assessment and timely interventions are warranted to prevent poorer developmental outcomes.

  8. Global services and support for children with developmental delays and disabilities: Bridging research and policy gaps.

    PubMed

    Collins, Pamela Y; Pringle, Beverly; Alexander, Charlee; Darmstadt, Gary L; Heymann, Jody; Huebner, Gillian; Kutlesic, Vesna; Polk, Cheryl; Sherr, Lorraine; Shih, Andy; Sretenov, Dragana; Zindel, Mariana

    2017-09-01

    Pamela Collins and colleagues explain the research and policy approaches needed globally to ensure children with developmental delays and disabilities are fully included in health and education services.

  9. Delayed visual orienting responses in children with developmental and/or intellectual disabilities.

    PubMed

    Boot, F H; Pel, J J M; Vermaak, M P; van der Steen, J; Evenhuis, H M

    2013-12-01

    Assessment of higher visual processing functions mostly requires active cooperation of participants, which is problematic in children with intellectual disabilities (ID). To circumvent this, we applied remote eye tracking to quantify (ab)normal visual orienting responses in children with ID in terms of reaction times to visual stimuli. We presented visual stimuli (cartoon, coherent form, and coherent motion) to 127 children (2-14 years) with developmental and/or ID (risk group) and simultaneously measured their orienting ocular motor responses. Reaction times to fixation (RTF) in the risk group were compared with RTF values of an age-matched control group. Overall, in 72% of the children in the risk group, RTF values to cartoon were delayed, in 47% to form, and in 38% to motion. The presence of delayed reaction times was highest in the group of children >4 years with ID. Our data show that a majority of children with developmental and/or ID have delayed visual orienting responses. This suggests that this group has increased risk for higher visual processing dysfunctions. Future studies are planned to correlate abnormal orienting responses to type of brain damage and to dissociate the responses from ocular motor disorders. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID.

  10. Musical stimulation in the developmentally delayed child: a pilot study.

    PubMed

    Jones, N L; Molnar, E T; Knasel, A L

    1987-08-01

    Music is a convenient way of bypassing barriers of communication and eliciting responses that may be helpful in the diagnoses and treatment of illness. The use of background music in elevators, in doctors' offices, and in stores are good examples of how music can be used to affect the subconscious mind. In this pilot study drums were used to better define the effects of particular elements of music and sound. When repetitive rhythms are presented as background music to a group of severely developmentally delayed children, three out of four subjects show a definite change in level of development in the unstructured task of free drawing. To discover more about the effects of the various elements of music and to better identify patterns in the environment that are conducive to optimal functioning, further studies are indicated.

  11. Musical Stimulation in the Developmentally Delayed Child: A Pilot Study

    PubMed Central

    Jones, Nanelle Lavina; Molnar, Eva T.; Knasel, Anne L.

    1987-01-01

    Music is a convenient way of bypassing barriers of communication and eliciting responses that may be helpful in the diagnoses and treatment of illness. The use of background music in elevators, in doctors' offices, and in stores are good examples of how music can be used to affect the subconscious mind. In this pilot study drums were used to better define the effects of particular elements of music and sound. When repetitive rhythms are presented as background music to a group of severely developmentally delayed children, three out of four subjects show a definite change in level of development in the unstructured task of free drawing. To discover more about the effects of the various elements of music and to better identify patterns in the environment that are conducive to optimal functioning, further studies are indicated. ImagesFigure 1Figure 2Figure 3Figure 4Figure 5Figure 6Figure 7Figure 8 PMID:2468780

  12. Stability of cognitive performance of children with developmental delays.

    PubMed

    Bernheimer, L P; Keogh, B K

    1988-05-01

    A prospective longitudinal study of the development of children with delays of unknown etiology yielded data on the stability of cognitive performance over a 6-year period. Mean age at entry was 34.2 months; mean age at exit, 109.7 months. Data reported in the present article were based on assessments using the Gesell Developmental Schedules and the Stanford-Binet Intelligence Scale. For the group as a whole, the means of the test scores over time were remarkably stable. The stability of test scores appeared to be related to the level of functioning at entry, with those children with the highest development quotients at entry making the most progress over time.

  13. Developmental delays in preschool children with adenotonsillar hypertrophy.

    PubMed

    Soylu, Erkan; Soylu, Nusret; Polat, Cahit; Sakallıoğlu, Öner; Uçur, Ömer; Bozdoğan, Gökçe

    2016-01-01

    This study aims to investigate the effects of adenotonsillar hypertrophy on general development, as well as fine and gross motor capabilities, social communication, and language development in children with adenotonsillar hypertrophy by applying the Denver Developmental Screening Test-II. The study included 30 patients (12 boys, 18 girls; mean age 53.3±12.2 months; range 32 to 72 months) who were indicated for adenotonsillectomy due to adenotonsillar hypertrophy between February 2013 and July 2013. The control group comprised 30 children participants (12 boys, 18 girls; mean age 53.1±12.8 months; range 32 to 72 months) with no adenotonsillectomy indication. All participants included in the study were performed routine physical examination, flexible fiberoptic nasopharyngoscopy, and tympanometry. Brodsky scale and fiberendoscopic findings were used to categorize tonsil and adenoid sizes, respectively. Following ear, nose, and throat evaluation, a psychologist conducted Denver Developmental Screening Test-II in all participants blindly. Adenotonsillar hypertrophy patients had higher abnormal levels of general development (c2=7.13, p=0.028). Although patients and controls had similar levels of fine motor, gross motor, and personal-social development levels, there was a statistically borderline difference between them in terms of language development (t=1.82, p=0.074). The possibility of adenotonsillar hypertrophy should definitely be considered in children with delayed general and language developments.

  14. Including and Supporting Preschool Children with Developmental Delays in Early Childhood Programs.

    ERIC Educational Resources Information Center

    Brown, William H., Ed.; Conroy, Maureen A., Ed.

    Mainstreaming, integrating, and including young children with developmental delays in programs with peers without developmental delays began over 25 years ago and has gained much legal and policy support. This book provides early childhood educators with high-quality and contemporary information that they might need while serving young children…

  15. Sleep Problems and Early Developmental Delay: Implications for Early Intervention Programs

    ERIC Educational Resources Information Center

    Bonuck, Karen; Grant, Roy

    2012-01-01

    Sleep disorders negatively impact behavior, cognition, and growth--the same areas targeted by early intervention. Conversely, developmental delays and disabilities may themselves precipitate sleep disorders. Young children with developmental delays experience sleep disorders at a higher rate than do typically developing children; the most common…

  16. Child Care Providers' Competence and Confidence in Referring Children at Risk for Developmental Delays

    ERIC Educational Resources Information Center

    Branson, Diane; Bingham, Ann

    2017-01-01

    Despite the benefits of early intervention for children, the majority of children with developmental delays are not identified prior to the age of 5 years. Child care providers could aid in recognition of children at risk for developmental delays; however, there is little research on this topic. This article reports on a qualitative research study…

  17. Sleep Problems and Early Developmental Delay: Implications for Early Intervention Programs

    ERIC Educational Resources Information Center

    Bonuck, Karen; Grant, Roy

    2012-01-01

    Sleep disorders negatively impact behavior, cognition, and growth--the same areas targeted by early intervention. Conversely, developmental delays and disabilities may themselves precipitate sleep disorders. Young children with developmental delays experience sleep disorders at a higher rate than do typically developing children; the most common…

  18. The Role of Emotion Regulation in the Social Problems of Boys with Developmental Delays

    ERIC Educational Resources Information Center

    Wilson, Beverly J.; Fernandes-Richards, Siobhan; Aarskog, Cyrena; Osborn, Teresa; Capetillo, Darla

    2007-01-01

    Parents and teachers reported that 6- to 8-year-old boys with developmental delays were less able to regulate their emotions than nondelayed boys matched on chronological age. Compared to nondelayed boys, boys with developmental delays had more social problems, which persisted and increased over a 3-year period. Children's ability to regulate…

  19. Piaget-Based Evaluation and Education of Young, Developmentally Delayed Children.

    ERIC Educational Resources Information Center

    Raph, Jane Beasley; Hart, Betty

    The performance of two developmentally delayed Down's Syndrome children on the Uzgiris-Hunt Scales (UHS) of psychological development is discussed in detail to illustrate the applicability of the scales to developmentally delayed children. This work was carried out at the Garden Park School for trainable and multiple-handicapped children in…

  20. Child Care Providers' Competence and Confidence in Referring Children at Risk for Developmental Delays

    ERIC Educational Resources Information Center

    Branson, Diane; Bingham, Ann

    2017-01-01

    Despite the benefits of early intervention for children, the majority of children with developmental delays are not identified prior to the age of 5 years. Child care providers could aid in recognition of children at risk for developmental delays; however, there is little research on this topic. This article reports on a qualitative research study…

  1. Differences in Social Signals Produced by Children with Developmental Delays of Differing Etiologies.

    ERIC Educational Resources Information Center

    Walden, Tedra A.; Blackford, Jennifer Urbano; Carpenter, Kimberley L.

    1997-01-01

    A study of 87 adults with and without experience with children with developmental delays examined differences in their ability to detect the social looks produced by children with Down syndrome, children with developmental delays, and typical children. Results found participants were least accurate when viewing children with Down syndrome.…

  2. An Overview of the Techniques Used to Develop the Literacy Skills of Adolescents with Developmental Delays.

    ERIC Educational Resources Information Center

    Rizopoulos, Lisa Anne; Wolpert, Gloria

    2004-01-01

    Adolescents with developmental delays are often included in generale ducation classes, even though their abilities aren't aligned with middle school learning demands. Teachers in inclusive classes may not have the required education or the experience to teach students with developmental delays. Therefore, teachers require effective reading…

  3. The prevalence of developmental delay among children aged 3-60 months in Izmir, Turkey.

    PubMed

    Demirci, A; Kartal, M

    2016-03-01

    Developmental delay is defined as delays in speech and language development, motor development, social-emotional development and cognitive development. On a global scale, the prevalence estimations in paediatric population range between 5% and 15%. However, no prevalence studies on developmental delay have been conducted in primary care in Turkey. The aim of this study was to determine the prevalence of developmental delay among children aged 3-60 months in Izmir. This cross-sectional, descriptive study involved 1514 children aged 3-60 months, who were at 12 primary health centres for various reasons in Izmir between 1 November 2013 and 31 January 2014. The questionnaire and age-specific Turkish version of the Ages and Stages Questionnaires were applied to mothers via face-to-face interview. The prevalence of developmental delay was 6.4% (95% confidence interval 5.2-7.7). The prevalence for age groups varied between 3.3% and 12.1%. Significant associations were found between developmental delay and maternal age, maternal/paternal education, socio-economic level of the family and the presence of consanguineous marriage. Identifying developmental delay in children earlier by a validated, reliable, parent-completed questionnaire like Ages and Stages Questionnaires and detecting risk factors for delay are crucial for primary care where their growth and development are monitored. Identifying developmental delay and early referral to rehabilitation services may help improve children's quality of life. © 2015 John Wiley & Sons Ltd.

  4. Quantifying promoter activity during the developmental cycle of Chlamydia trachomatis

    PubMed Central

    Cong, Yanguang; Gao, Leiqiong; Zhang, Yan; Xian, Yuqi; Hua, Ziyu; Elaasar, Hiba; Shen, Li

    2016-01-01

    Chlamydia trachomatis is an important human pathogen that undergoes a characteristic development cycle correlating with stage-specific gene expression profiles. Taking advantage of recent developments in the genetic transformation in C. trachomatis, we constructed a versatile green fluorescent protein (GFP) reporter system to study the development-dependent function of C. trachomatis promoters in an attempt to elucidate the mechanism that controls C. trachomatis adaptability. We validated the use of the GFP reporter system by visualizing the activity of an early euo gene promoter. Additionally, we uncovered a new ompA promoter, which we named P3, utilizing the GFP reporter system combined with 5′ rapid amplification of cDNA ends (RACE), in vitro transcription assays, real-time quantitative RT-PCR (RT-qPCR), and flow cytometry. Mutagenesis of the P3 region verifies that P3 is a new class of C. trachomatis σ66-dependent promoter, which requires an extended −10 TGn motif for transcription. These results corroborate complex developmentally controlled ompA expression in C. trachomatis. The exploitation of genetically labeled C. trachomatis organisms with P3-driven GFP allows for the observation of changes in ompA expression in response to developmental signals. The results of this study could be used to complement previous findings and to advance understanding of C. trachomatis genetic expression. PMID:27263495

  5. Computing theoretical rates of part C eligibility based on developmental delays.

    PubMed

    Rosenberg, Steven A; Ellison, Misoo C; Fast, Bruce; Robinson, Cordelia C; Lazar, Radu

    2013-02-01

    Part C early intervention is a nationwide program that serves infants and toddlers who have developmental delays. This article presents a methodology for computing a theoretical estimate of the proportion of children who are likely to be eligible for Part C services based on delays in any of the 5 developmental domains (cognitive, motor, communication, social-emotional and adaptive) that are assessed to determine eligibility. Rates of developmental delays were estimated from a multivariate normal cumulative distribution function. This approach calculates theoretical rates of occurrence for conditions that are defined in terms of standard deviations from the mean on several variables that are approximately normally distributed. Evidence is presented to suggest that the procedures described produce accurate estimates of rates of child developmental delays. The methodology used in this study provides a useful tool for computing theoretical rates of occurrence of developmental delays that make children candidates for early intervention.

  6. Metabolic evaluation of children with global developmental delay

    PubMed Central

    Hahn, Si Houn

    2015-01-01

    Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes. PMID:25932032

  7. Self-Recognition in Young Children Using Delayed versus Live Feedback: Evidence of a Developmental Asynchrony.

    ERIC Educational Resources Information Center

    Povinelli, Daniel J.; And Others

    1996-01-01

    Investigated the ability of young children to recognize themselves in delayed videotapes and recent photographs. Results suggested a significant developmental delay in young children's success on mark tests of self-recognition using delayed feedback as compared to live feedback, which may have important implications for characterizing the…

  8. Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features

    PubMed Central

    Steinfeld, Hallie; Cho, Megan T.; Retterer, Kyle; Person, Rick; Schaefer, G. Bradley; Danylchuk, Noelle; Malik, Saleem; Wechsler, Stephanie Burns; Wheeler, Patricia G.; van Gassen, Koen L.I.; Terhal, P.A.; Verhoeven, Virginie J.M.; van Slegtenhorst, Marjon A.; Monaghan, Kristin G.; Henderson, Lindsay B.; Chung, Wendy K.

    2016-01-01

    HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2) has been previously associated with intellectual disability and developmental delay in three patients. Here we describe six patients with developmental delay, intellectual disability and dysmorphic features with de novo likely gene damaging variants in HIVEP2 identified by whole exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay. PMID:27003583

  9. Developmental Level and Psychopathology: Comparing Children with Developmental Delays to Chronological and Mental Age Matched Controls

    PubMed Central

    Caplan, Barbara; Neece, Cameron L.; Baker, Bruce L.

    2015-01-01

    Children with developmental delays (DD) are at heightened risk for developing clinically significant behavioral and emotional difficulties as compared to children with typical development (TD). However, nearly all studies comparing psychopathology in youth with DD employ TD control groups of the same chronological age (CA). It is unclear, then, whether the heightened symptomology found in age-matched children with DD is beyond what would be expected given their developmental level. The present study assessed rates of behavior problems and mental disorder in 35 children with DD at age 9 years. These were compared with rates from 35 children with TD matched for CA at age 9 and also earlier rates for these same children at age 6, when matched for mental age (MA). Children with DD had significantly more behavior problems in 7 of the 17 scales of the CBCL when compared to TD children matched for CA, and 6 of 17 scales when compared to the MA-matched group. Rates of meeting DSM-IV criteria for a psychiatric disorder were significantly higher in the DD group than both the CA- and MA-matched TD groups for three and four, respectively, of the seven diagnoses examined. Descriptively, the mean ratings for all variables assessed were higher for the DD group than both TD comparison groups, with the exception of the Anxious/Depressed scale of the CBCL. These findings validate the heightened risk for clinically significant behavior problems and mental disorders in youth with DD above and beyond their developmental functioning. PMID:25498740

  10. Determinants of activity and participation in preschoolers with developmental delay.

    PubMed

    Leung, Grantiana P K; Chan, Chetwyn C H; Chung, Raymond C K; Pang, Marco Y C

    2011-01-01

    According to the International Classification of Functioning, Disability and Health model endorsed by the World Health Organization, activity (the execution of a task or action by an individual), and participation (involvement in a life situation) are important components in the assessment of health and functioning of an individual. The purpose of this study was to compare the activity performance and school participation of preschool children with developmental delay (DD) and age-matched typically developing children, and to identify the determinants of activity and participation in preschoolers with DD. Fifty-four children with DD (37 boys, 17 girls; mean age: 66 months) and 54 age-matched typically developing children (34 boys, 20 girls; mean age: 65 months) were recruited from the mainstream preschools with integrated program units. Activity and participation were evaluated using the Vineland Adaptive Behavior Scales (VABS) and School Function Assessment (SFA). Other factors that may influence activity and participation such as impairments in sensory, motor, and mental functioning, and other contextual factors (e.g. family income) were also measured. The DD group had significantly lower VABS (p < 0.001) and SFA (p<0.001) scores than controls, indicating suboptimal activity and participation. Multiple regression analysis revealed that deficits in social and motor skills, and in inattention/hyperactivity, were significantly associated with activity and participation in children with DD, accounting for approximately 35-37% of the variance in the VABS and SFA scores ( p<0.001). In conclusion, deficits in social and motor functioning, and attention-deficit hyperactivity disorder-related symptoms, are important determinants of activity and participation in preschoolers with DD. One may consider targeting these specific areas to enhance activity and participation amongst these children. Copyright © 2010 Elsevier Ltd. All rights reserved.

  11. White matter proton MR spectroscopy in children with isolated developmental delay: does it mean delayed myelination?

    PubMed

    Fayed, Nicolás; Morales, Humberto; Modrego, Pedro J; Muñoz-Mingarro, Juan

    2006-02-01

    Isolated developmental delay (IDD) is a common disorder in preschool and school-age children. Conventional magnetic resonance imaging (MRI) usually does not disclose abnormalities, but a myelination delay is suspected as causative or associated factor. N-acetyl-aspartate is a surrogate marker of neuronal integrity but also of axonal integrity. The goal of our study is to determine whether magnetic resonance spectroscopy (MRS) is able to detect alterations in the white matter supporting the hypothesis of delayed myelination in children with IDD and normal MRI. In this cross-sectional study, we enrolled 12 consecutive children meeting the criteria if IDD and aged between 3 and 12 years (mean 7.25 years) and 11 healthy children as control group (mean age 7.18, range 3-12 years) on whom we performed conventional MRI and MRS. We did not include children with abnormal MRI. Single voxel (8 cm(3)) was placed in the white matter of the left centrum semiovale. The mode of acquisition was probe-p (PRESS technique) with a TR of 2500 milliseconds and a TE of 30 milliseconds. We measured the metabolite concentration of n-acetyl-aspartate (NAA), choline (Ch), creatine (Cr) y myo-inositol (mI), and ratios of NAA, Ch, and mI to creatine. In children with IDD, we found a significant decrease of the following ratios: NAA/Cr (P < .016), NAA/Ch (P < .026), and NAA/mI (P < .023) in relation to controls. The mean NAA/Cr ratio in IDD children was 1.92 (SD 0.14), and in controls it was 2.09 (SD 0.14); t = 2.62, fd (freedom degrees) = 21, P < .016. No differences were seen in the remaining ratios. The lower NAA/Cr ratio in children with IDD in relation to controls may be a promising marker of this disorder and supports the hypothesis of delayed myelination. MRS can provide important information in children with neurodevelopmental disorders.

  12. Local observability of state variables and parameters in nonlinear modeling quantified by delay reconstruction.

    PubMed

    Parlitz, Ulrich; Schumann-Bischoff, Jan; Luther, Stefan

    2014-06-01

    Features of the Jacobian matrix of the delay coordinates map are exploited for quantifying the robustness and reliability of state and parameter estimations for a given dynamical model using a measured time series. Relevant concepts of this approach are introduced and illustrated for discrete and continuous time systems employing a filtered Hénon map and a Rössler system.

  13. Constructing, Quantifying, and Validating an Adverse Outcome Pathway for Vascular Developmental Toxicity

    EPA Science Inventory

    Constructing, Quantifying, and Validating an Adverse Outcome Pathway for Vascular Developmental Toxicity The adverse outcome pathway (AOP) for embryonic vascular disruption1 leading to a range of adverse prenatal outcomes was recently entered into the AOP wiki and accepted as par...

  14. Constructing, Quantifying, and Validating an Adverse Outcome Pathway for Vascular Developmental Toxicity

    EPA Science Inventory

    Constructing, Quantifying, and Validating an Adverse Outcome Pathway for Vascular Developmental Toxicity The adverse outcome pathway (AOP) for embryonic vascular disruption1 leading to a range of adverse prenatal outcomes was recently entered into the AOP wiki and accepted as par...

  15. Association of blood heavy metals with developmental delays and health status in children

    PubMed Central

    Hsueh, Yu-Mei; Lee, Chih-Ying; Chien, Ssu-Ning; Chen, Wei-Jen; Shiue, Horng-Sheng; Huang, Shiau-Rung; Lin, Ming-I; Mu, Shu-Chi; Hsieh, Ru-Lan

    2017-01-01

    The aim of this study was to evaluate the association of blood lead, mercury, and cadmium concentrations with developmental delays and to explore the association of these concentrations with the health status of children. This study recruited 89 children with developmental delays and 89 age- and sex-matched children with typical development. Their health status was evaluated using the Pediatric Quality of Life (PedsQL) Inventory for health-related quality of life (HRQOL) and the Pediatric Outcomes Data Collection Instrument for function. Family function was also evaluated. Blood lead, mercury, and cadmium concentrations were measured using inductively coupled mass spectrometry. The children with developmental delays had a considerably poorer HRQOL, lower functional performance and family function, and a higher blood lead concentration than those with typical development. The blood lead concentration had a significantly positive association with developmental delays [odds ratio (OR) = 1.54, p < 0.01] in a dose-response manner, and it negatively correlated with PedsQL scores (regression coefficient: −0. 47 to −0.53, p < 0.05) in all the children studied. The higher blood cadmium concentration showed a significantly positive association with developmental delays (OR = 2.24, for >1.0 μg/L vs. <0.6 μg/L, p < 0.05). The blood mercury concentration was not associated with developmental delays and health status. PMID:28252669

  16. Effects of Weighted Vests on the Engagement of Children with Developmental Delays and Autism

    ERIC Educational Resources Information Center

    Reichow, Brian; Barton, Erin E.; Sewell, Joanna Neely; Good, Leslie; Wolery, Mark

    2010-01-01

    The use of weighted vests for children with autism spectrum disorders and developmental disabilities is a common practice as part of sensory integration therapy programs. The purpose of the current investigation was to extend the research on the use of weighted vests for children with autism and developmental delays in a methodologically rigorous…

  17. Assessment of Distress in Young Children: A Comparison of Autistic Disorder, Developmental Delay, and Typical Development

    ERIC Educational Resources Information Center

    Esposito, G.; Venuti, P.; Bornstein, M. H.

    2011-01-01

    Distress emotions in very young children are manifest in vocal, facial, and bodily cues. Moreover, children with different developmental conditions (i.e. autistic disorder, AD; developmental delay, DD; typically developing, TD) appear to manifest their distress emotions via different channels. To decompose channel of emotional distress display by…

  18. Trajectories of Developmental Functioning among Children of Adolescent Mothers: Factors Associated with Risk for Delay

    ERIC Educational Resources Information Center

    Jahromi, Laudan B.; Umaña-Taylor, Adriana J.; Updegraff, Kimberly A.; Zeiders, Katharine H.

    2016-01-01

    Children of adolescent mothers are at risk for developmental delays. Less is known about the heterogeneity in these children's developmental trajectories, and factors associated with different patterns of development. This longitudinal study used latent class growth analysis (LCGA) to identify distinct trajectories in children of Mexican-origin…

  19. Effects of Weighted Vests on the Engagement of Children with Developmental Delays and Autism

    ERIC Educational Resources Information Center

    Reichow, Brian; Barton, Erin E.; Sewell, Joanna Neely; Good, Leslie; Wolery, Mark

    2010-01-01

    The use of weighted vests for children with autism spectrum disorders and developmental disabilities is a common practice as part of sensory integration therapy programs. The purpose of the current investigation was to extend the research on the use of weighted vests for children with autism and developmental delays in a methodologically rigorous…

  20. Assessment of Distress in Young Children: A Comparison of Autistic Disorder, Developmental Delay, and Typical Development

    ERIC Educational Resources Information Center

    Esposito, G.; Venuti, P.; Bornstein, M. H.

    2011-01-01

    Distress emotions in very young children are manifest in vocal, facial, and bodily cues. Moreover, children with different developmental conditions (i.e. autistic disorder, AD; developmental delay, DD; typically developing, TD) appear to manifest their distress emotions via different channels. To decompose channel of emotional distress display by…

  1. Trajectories of Developmental Functioning among Children of Adolescent Mothers: Factors Associated with Risk for Delay

    ERIC Educational Resources Information Center

    Jahromi, Laudan B.; Umaña-Taylor, Adriana J.; Updegraff, Kimberly A.; Zeiders, Katharine H.

    2016-01-01

    Children of adolescent mothers are at risk for developmental delays. Less is known about the heterogeneity in these children's developmental trajectories, and factors associated with different patterns of development. This longitudinal study used latent class growth analysis (LCGA) to identify distinct trajectories in children of Mexican-origin…

  2. Arsenic methylation capacity and developmental delay in preschool children in Taiwan.

    PubMed

    Hsieh, Ru-Lan; Huang, Ya-Li; Shiue, Horng-Sheng; Huang, Shiau-Rung; Lin, Ming-I; Mu, Shu-Chi; Chung, Chi-Jung; Hsueh, Yu-Mei

    2014-07-01

    Environmental exposure to lead or mercury can cause neurodevelopmental damage. Arsenic is another neurotoxicant that can affect intellectual function in children. This study was designed to explore the difference of arsenic methylation capacity indices between with and without developmental delay in preschool children. We also aimed to identify whether blood levels of lead or mercury modify the effect of arsenic methylation capacity indices. A cross sectional study was conducted from August 2010 to March 2012. All participants recruited from the Shin Kong Wu Ho-Su Memorial Teaching Hospital. In all, 63 children with developmental delay and 35 children without developmental delay were recruited. Urinary arsenic species, including arsenite (As(III)), arsenate (As(V)), monomethylarsonic acid (MMA(V)) and dimethylarsinic acid (DMA(V)) were measured with a high-performance liquid chromatography-linked hydride generator and atomic absorption spectrometry. Lead and mercury levels of red blood cells were measured by inductively coupled mass spectrometry. All participants underwent developmental assessments to confirm developmental delays, including evaluations of gross motor, fine motor, speech-language, cognition, social, and emotional domains. Urinary total arsenic and MMA(V) percentage were significantly positively associated and DMA(V) percentage was negatively associated with the risk of developmental delay in a dose-dependent manner after adjustment for blood lead or mercury levels and other risk factors. A multivariate regression analysis indicated that blood lead level and arsenic methylation capacity each independently contributed to the risk of developmental delay. This is the first study to show that arsenic methylation capacity is associated with developmental delay, even without obvious environmental arsenic exposure. Copyright © 2014 Elsevier GmbH. All rights reserved.

  3. Correlation Between Mothers' Depression and Developmental Delay in Infants Aged 6-18 Months.

    PubMed

    Vameghi, Roshanak; Amir Ali Akbari, Sedigheh; Sajjadi, Homeira; Sajedi, Firoozeh; Alavimajd, Hamid

    2015-08-23

    Regarding the importance of children's developmental status and various factors that delay their development, this study was conducted to examine the correlation between mothers' depression levels and the developmental delay in infants. This descriptive study was performed on 1053 mothers and their infants' age 6 to18 month-old in medical centers affiliated with Shahid Beheshti University of Medical Sciences, Iran, in 2014-2015. The participants were selected through multi-stage random sampling. The following instruments were used in this study: A demographic and obstetric specification questionnaire, infant specification questionnaire, the Beck Depression Inventory, and the Ages and Stages Questionnaire to determine the status of the children's development. The data were analyzed using SPSS19 software, Mann-Whitney; independent T-test and logistic-Regression tests were used. The results showed that 491 mothers (46.7%) suffered mild to extremely severe depression. The delay in infant development was 11.8%. The Mann-Whitney test showed a correlation between mothers' depression levels and developmental delay in infants (P=0.001). Moreover, there was a significant correlation between mothers' depression and developmental delays in gross-motor and problem-solving skills (P<0/05). In logistic model age of infants showed significant correlation with developmental delay (P=0.004 OR=1.07), but unwanted pregnancy, gender of infants, type of delivery and socioeconomic status had no correlation with developmental delay. Given the correlation between mothers' depression and infant development, it is recommended to screen mothers for depression in order to perform early interventions in developmental delay.

  4. Correlation Between Mothers’ Depression and Developmental Delay in Infants Aged 6-18 Months

    PubMed Central

    Vameghi, Roshanak; Akbari, Sedigheh Amir Ali; Sajjadi, Homeira; Sajedi, Firoozeh; Alavimajd, Hamid

    2016-01-01

    Background: Regarding the importance of children’s developmental status and various factors that delay their development, this study was conducted to examine the correlation between mothers’ depression levels and the developmental delay in infants. Methods: This descriptive study was performed on 1053 mothers and their infants’ age 6 to18 month-old in medical centers affiliated with Shahid Beheshti University of Medical Sciences, Iran, in 2014-2015. The participants were selected through multi-stage random sampling. The following instruments were used in this study: A demographic and obstetric specification questionnaire, infant specification questionnaire, the Beck Depression Inventory, and the Ages and Stages Questionnaire to determine the status of the children’s development. The data were analyzed using SPSS19 software, Mann-Whitney; independent T-test and logistic-Regression tests were used. Results: The results showed that 491 mothers (46.7%) suffered mild to extremely severe depression. The delay in infant development was 11.8%. The Mann–Whitney test showed a correlation between mothers’ depression levels and developmental delay in infants (P=0.001). Moreover, there was a significant correlation between mothers’ depression and developmental delays in gross-motor and problem-solving skills (P<0/05). In logistic model age of infants showed significant correlation with developmental delay (P=0.004 OR=1.07), but unwanted pregnancy, gender of infants, type of delivery and socioeconomic status had no correlation with developmental delay. Conclusion: Given the correlation between mothers’ depression and infant development, it is recommended to screen mothers for depression in order to perform early interventions in developmental delay. PMID:26652078

  5. Discrimination Acquisition in Children with Developmental Disabilities under Immediate and Delayed Reinforcement

    ERIC Educational Resources Information Center

    Sy, Jolene R.; Vollmer, Timothy R.

    2012-01-01

    We evaluated the discrimination acquisition of individuals with developmental disabilities under immediate and delayed reinforcement. In Experiment 1, discrimination between two alternatives was examined when reinforcement was immediate or delayed by 20 s, 30 s, or 40 s. In Experiment 2, discrimination between 2 alternatives was compared across an…

  6. Discrimination Acquisition in Children with Developmental Disabilities under Immediate and Delayed Reinforcement

    ERIC Educational Resources Information Center

    Sy, Jolene R.; Vollmer, Timothy R.

    2012-01-01

    We evaluated the discrimination acquisition of individuals with developmental disabilities under immediate and delayed reinforcement. In Experiment 1, discrimination between two alternatives was examined when reinforcement was immediate or delayed by 20 s, 30 s, or 40 s. In Experiment 2, discrimination between 2 alternatives was compared across an…

  7. Using Time Delay to Teach Literacy to Students with Severe Developmental Disabilities

    ERIC Educational Resources Information Center

    Browder, Diane; Ahlgrim-Delzell, Lynn; Spooner, Fred; Mims, Pamela J.; Baker, Joshua N.

    2009-01-01

    A review of the literature was conducted for articles published between 1975 and 2007 on the application of time delay as an instructional procedure to teach word and picture recognition to students with severe developmental disabilities in an effort to evaluate time delay as an evidence-based practice. A total of 30 experiments were analyzed…

  8. Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

    PubMed Central

    Kim, Yoon-Myung; Choi, In-Hee; Kim, Jun Suk; Kim, Ja Hye; Cho, Ja Hyang; Lee, Beom Hee; Kim, Gu-Hwan; Choi, Jin-Ho; Seo, Eul-Ju

    2016-01-01

    Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome. PMID:28018439

  9. Cost of Developmental Delay from Prenatal Exposure to Airborne Polycyclic Aromatic Hydrocarbons

    PubMed Central

    Weiland, Katherine; Neidell, Matthew; Rauh, Virginia; Perera, Frederica

    2013-01-01

    Early life exposure to ambient polycyclic aromatic hydrocarbons (PAHs) can result in developmental delay. The negative health effects of PAHs have been well-documented but the cost of developmental delay due to PAH exposure has not been studied. The Columbia Center for Children’s Environmental Health previously has reported the significant effect of prenatal exposure to ambient PAHs on delayed mental development at three years, using the Bayley Scales in a cohort of low-income women and children in New York City (NYC). Here we have used the cohort results to estimate the annual costs of preschool special education services for low-income NYC children with developmental delay due to PAH exposure using the Environmentally Attributable Fraction method. The estimated cost of PAH-exposure-related services is over $13.7 million per year for Medicaid births in NYC. This high cost supports policies to reduce level of PAHs in NYC air. PMID:21317525

  10. Adaptive Function in Preschoolers in Relation to Developmental Delay and Diagnosis of Autism Spectrum Disorders: Insights from a Clinical Sample

    ERIC Educational Resources Information Center

    Milne, Susan L.; McDonald, Jenny L.; Comino, Elizabeth J.

    2013-01-01

    This study aims to explore the relationship between developmental ability, autism and adaptive skills in preschoolers. Adaptive function was assessed in 152 preschoolers with autism, with and without developmental delay, and without autism, with and without developmental delay. Their overall adaptive function, measured by the general adaptive…

  11. Adaptive Function in Preschoolers in Relation to Developmental Delay and Diagnosis of Autism Spectrum Disorders: Insights from a Clinical Sample

    ERIC Educational Resources Information Center

    Milne, Susan L.; McDonald, Jenny L.; Comino, Elizabeth J.

    2013-01-01

    This study aims to explore the relationship between developmental ability, autism and adaptive skills in preschoolers. Adaptive function was assessed in 152 preschoolers with autism, with and without developmental delay, and without autism, with and without developmental delay. Their overall adaptive function, measured by the general adaptive…

  12. Quantifying treatment delays in adolescents and young adults with cancer at McGill University

    PubMed Central

    Xu, Y.; Stavrides-Eid, M.; Baig, A.; Cardoso, M.; Rho, Y.S.; Shams, W.M.; Mamo, A.; Kavan, P.

    2015-01-01

    Background: Since the end of the 1980s, the magnitude of survival prolongation or mortality reduction has not been the same for adolescents and young adults (ayas) with cancer as for their older and younger counterparts. Precise reasons for those observations are unknown, but the differences have been attributed in part to delays in diagnosis and treatment. In 2003 at the Jewish General Hospital, we developed the first Canadian multidisciplinary aya oncology clinic to better serve this unique patient population. The aim of the present study was to develop an approach to quantify diagnosis delays in our aya patients and to study survival in relation to the observed delay. Methods: In a retrospective chart review, we collected information about delays, treatment efficacy, and obstacles to treatment for patients seen at our aya clinic. Results: From symptom onset, median time to first health care contact was longer for girls and young women (62 days) than for boys and young men (6 days). Median time from symptom onset to treatment was 173 days; time from first health care contact to diagnosis was the largest contributor to that duration. Delays in diagnosis were shorter for patients who initially presented to the emergency room, but compared with patients whose first health contact was of another type, patients presenting to the emergency room were 3 times more likely to die from their disease. Conclusions: Delays in diagnosis are frequently reported in ayas with cancer, but the duration of the delay was unrelated to survival in our sample. Application of this approach to larger prospective samples is warranted to better understand the relation between treatment delay and survival in ayas—and in other cancer patient groups. PMID:26715885

  13. Health Literacy in Unauthorized Mexican Immigrant Mothers and Risk of Developmental Delay in their Children.

    PubMed

    Hernandez-Mekonnen, Robin; Duggan, Elise K; Oliveros-Rosen, Leonel; Gerdes, Marsha; Wortham, Stanton; Ludmir, Jack; Bennett, Ian M

    2016-10-01

    The incidence of developmental delay and early intervention (EI) service utilization is not well documented among unauthorized Mexican immigrants, a vulnerable population. Individual interviews were conducted in Spanish with Mexican born women receiving maternal health care. Children 12-60 months of age were screened for developmental delay using the Ages and Stages Questionnaire. 12 % (n = 8) of children assessed (n = 65) were at risk for developmental delay. Of those at risk 38 % (n = 3) participated in EI. An additional 26 % of the children (n = 17) qualified for further monitoring, and of those 59 % (n = 10) received EI. Women with low health literacy had more than four times the odds of having a child with risk of developmental delay (aOR 4.4; 95 % CI 1.3-15.4). Developmental delay was associated with low maternal health literacy in unauthorized Mexican immigrants; however, rates of self-reported EI use in this population are higher than those seen nationally.

  14. Teaching Individuals with Developmental Delays: Basic Intervention Techniques.

    ERIC Educational Resources Information Center

    Lovaas, O. Ivar

    This teaching manual for treatment of children with developmental disabilities is divided into seven sections that address: (1) basic concepts; (2) transition into treatment; (3) early learning concepts; (4) expressive language; (5) strategies for visual learners; (6) programmatic considerations; and (7) organizational and legal issues. Among…

  15. The Consequences of Delayed Enrollment in Developmental Mathematics

    ERIC Educational Resources Information Center

    Fike, David S.; Fike, Renea

    2012-01-01

    Though a large percentage of U.S. students enter higher education with mathematics deficiencies, many institutions allow these students to decide the timing of their enrollment in developmental mathematics courses. This study of 3476 first-time-in-college students entailed the review of student outcomes (Fall GPA, Fall-to-Spring retention,…

  16. Pretend Play in High-Risk and Developmentally Delayed Children.

    ERIC Educational Resources Information Center

    Sigman, Marian; Sena, Rhonda

    1993-01-01

    Discusses the use of pretend play as a cognitive assessment tool. Examines the failure of developmental progression of play in preterm, drug-exposed, malnourished, Down's syndrome, mentally retarded, and autistic children. Examines individual differences in play, and the relationship between language and play, in these groups. (AC)

  17. Teaching Individuals with Developmental Delays: Basic Intervention Techniques.

    ERIC Educational Resources Information Center

    Lovaas, O. Ivar

    This teaching manual for treatment of children with developmental disabilities is divided into seven sections that address: (1) basic concepts; (2) transition into treatment; (3) early learning concepts; (4) expressive language; (5) strategies for visual learners; (6) programmatic considerations; and (7) organizational and legal issues. Among…

  18. Youth Assets and Delayed Coitarche across Developmental Age Groups

    ERIC Educational Resources Information Center

    Aspy, Cheryl B.; Vesely, Sara K.; Tolma, Eleni L.; Oman, Roy F.; Rodine, Sharon; Marshall, LaDonna; Fluhr, Janene

    2010-01-01

    Cross-sectional studies suggest that assets are associated with youth abstinence, but whether these relationships are constant across developmental age groups has not been shown. Data for this study were obtained from two independent datasets collected across a 2-year period using in-person, in-home interviews of youth (52% female; 44% Caucasian,…

  19. Predicting Developmental Delay from Cry Analysis in Preterm Infants.

    ERIC Educational Resources Information Center

    Sepkoski, Carol M.; And Others

    This study examined whether cry acoustics enhance the prediction of developmental outcome in preterm infants, after accounting for medical and social variables. Selection criteria for 149 preterm subjects included being born at less than 35 weeks gestational age and less than 1,500 grams; for 25 term subjects, selection criteria included being…

  20. Adaptive Developmental Delay in Chagas Disease Vectors: An Evolutionary Ecology Approach

    PubMed Central

    Menu, Frédéric; Ginoux, Marine; Rajon, Etienne; Lazzari, Claudio R.; Rabinovich, Jorge E.

    2010-01-01

    Background The developmental time of vector insects is important in population dynamics, evolutionary biology, epidemiology and in their responses to global climatic change. In the triatomines (Triatominae, Reduviidae), vectors of Chagas disease, evolutionary ecology concepts, which may allow for a better understanding of their biology, have not been applied. Despite delay in the molting in some individuals observed in triatomines, no effort was made to explain this variability. Methodology We applied four methods: (1) an e-mail survey sent to 30 researchers with experience in triatomines, (2) a statistical description of the developmental time of eleven triatomine species, (3) a relationship between development time pattern and climatic inter-annual variability, (4) a mathematical optimization model of evolution of developmental delay (diapause). Principal Findings 85.6% of responses informed on prolonged developmental times in 5th instar nymphs, with 20 species identified with remarkable developmental delays. The developmental time analysis showed some degree of bi-modal pattern of the development time of the 5th instars in nine out of eleven species but no trend between development time pattern and climatic inter-annual variability was observed. Our optimization model predicts that the developmental delays could be due to an adaptive risk-spreading diapause strategy, only if survival throughout the diapause period and the probability of random occurrence of “bad” environmental conditions are sufficiently high. Conclusions/Significance Developmental delay may not be a simple non-adaptive phenotypic plasticity in development time, and could be a form of adaptive diapause associated to a physiological mechanism related to the postponement of the initiation of reproduction, as an adaptation to environmental stochasticity through a spreading of risk (bet-hedging) strategy. We identify a series of parameters that can be measured in the field and laboratory to test

  1. Discrimination acquisition in children with developmental disabilities under immediate and delayed reinforcement.

    PubMed

    Sy, Jolene R; Vollmer, Timothy R

    2012-01-01

    We evaluated the discrimination acquisition of individuals with developmental disabilities under immediate and delayed reinforcement. In Experiment 1, discrimination between two alternatives was examined when reinforcement was immediate or delayed by 20 s, 30 s, or 40 s. In Experiment 2, discrimination between 2 alternatives was compared across an immediate reinforcement condition and a delayed reinforcement condition in which subjects could respond during the delay. In Experiment 3, discrimination among 4 alternatives was compared across immediate and delayed reinforcement. In Experiment 4, discrimination between 2 alternatives was examined when reinforcement was immediate and 0-s or 30-s intertrial intervals (ITI) were programmed. For most subjects, discrimination acquisition occurred under immediate reinforcement. However, for some subjects, introducing delays slowed or prevented discrimination acquisition under some conditions. Results from Experiment 4 suggest that longer ITIs cannot account for the lack of discrimination under delayed reinforcement.

  2. DISCRIMINATION ACQUISITION IN CHILDREN WITH DEVELOPMENTAL DISABILITIES UNDER IMMEDIATE AND DELAYED REINFORCEMENT

    PubMed Central

    Sy, Jolene R.; Vollmer, Timothy R.

    2012-01-01

    We evaluated the discrimination acquisition of individuals with developmental disabilities under immediate and delayed reinforcement. In Experiment 1, discrimination between two alternatives was examined when reinforcement was immediate or delayed by 20 s, 30 s, or 40 s. In Experiment 2, discrimination between 2 alternatives was compared across an immediate reinforcement condition and a delayed reinforcement condition in which subjects could respond during the delay. In Experiment 3, discrimination among 4 alternatives was compared across immediate and delayed reinforcement. In Experiment 4, discrimination between 2 alternatives was examined when reinforcement was immediate and 0-s or 30-s intertrial intervals (ITI) were programmed. For most subjects, discrimination acquisition occurred under immediate reinforcement. However, for some subjects, introducing delays slowed or prevented discrimination acquisition under some conditions. Results from Experiment 4 suggest that longer ITIs cannot account for the lack of discrimination under delayed reinforcement. PMID:23322925

  3. Preschool Children with and without Developmental Delay: Risk, Parenting, and Child Demandingess.

    PubMed

    Brown, Mallory A; McIntyre, Laura Lee; Crnic, Keith A; Baker, Bruce L; Blacher, Jan

    2011-07-01

    Although past literature has established relations between early child risk factors, negative parenting, and problematic child behavior, the nature of these interrelations and pathways of influence over time remains largely unknown, especially in children with developmental delays or disabilities. In the current study data were drawn from the longitudinal Collaborative Family Study and included a sample of 260 families with preschool children with and without developmental delays. Child-related risk was assessed at child age 36 months, maternal intrusiveness and negative affect at 48 months, and child demandingness at 60 months. Results indicated significant relations between early risk, negative parenting, and subsequent child demandingness. Sickliness as an infant was the most salient predictive risk factor of later child demandingness. Developmental delay was the most significant predictor of subsequent negative parenting. Results are discussed as being more indicative of additive rather than mediational processes given that early child risk and negative maternal parenting both contributed uniquely to the subsequent development of child demandingness.

  4. De novo mutations in PURA are associated with hypotonia and developmental delay

    PubMed Central

    Tanaka, Akemi J.; Bai, Renkui; Cho, Megan T.; Anyane-Yeboa, Kwame; Ahimaz, Priyanka; Wilson, Ashley L.; Kendall, Fran; Hay, Beverly; Moss, Timothy; Nardini, Monica; Bauer, Mislen; Retterer, Kyle; Juusola, Jane; Chung, Wendy K.

    2015-01-01

    PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion syndrome. Here we describe six unrelated children who were identified by clinical whole-exome sequencing (WES) to have novel de novo variants in PURA with a similar phenotype of hypotonia and developmental delay and frequently associated with seizures. The protein Purα (encoded by PURA) is involved in neuronal proliferation, dendrite maturation, and the transport of mRNA to translation sites during neuronal development. Mutations in PURA may alter normal brain development and impair neuronal function, leading to developmental delay and the seizures observed in patients with mutations in PURA. PMID:27148565

  5. A comparison of the korean-ages and stages questionnaires and denver developmental delay screening test.

    PubMed

    Ga, Hyo-Yun; Kwon, Jeong Yi

    2011-06-01

    To evaluate concurrent validity between the Korean-Ages and Stages Questionnaires (K-ASQ) and the Denver Developmental Screening Test II (DDST II), and to evaluate the validity of the K-ASQ as a screening tool for detecting developmental delay of Korean children. A retrospective chart review was done to examine concurrent validity of the screening potentials for developmental delay between the K-ASQ and the DDST II (n=226). We examined validity of the K-ASQ compared with Capute scale (n=141) and Alberta Infant Motor Scale (AIMS) (n=69) as a gold standard of developmental delay. Correlation analysis was used to determine the strength of the associations between tests. A fair to good strength relationship (k=0.442, p<0.05) was found between the K-ASQ and the DDST II. The test characteristics of the K-ASQ were sensitivity 76.3-90.2%, specificity 62.5-76.5%, positive likelihood ratio (PLR) 2.41-3.40, and negative likelihood ratio (NLR) 0.16-0.32. Evidence of concurrent validity of the K-ASQ with DDST II was found. K-ASQ can be used for screening of developmental delay.

  6. Environmental Enrichment Decreases Asphyxia-Induced Neurobehavioral Developmental Delay in Neonatal Rats

    PubMed Central

    Kiss, Peter; Vadasz, Gyongyver; Kiss-Illes, Blanka; Horvath, Gabor; Tamas, Andrea; Reglodi, Dora; Koppan, Miklos

    2013-01-01

    Perinatal asphyxia during delivery produces long-term disability and represents a major problem in neonatal and pediatric care. Numerous neuroprotective approaches have been described to decrease the effects of perinatal asphyxia. Enriched environment is a popular strategy to counteract nervous system injuries. The aim of the present study was to investigate whether enriched environment is able to decrease the asphyxia-induced neurobehavioral developmental delay in neonatal rats. Asphyxia was induced in ready-to-deliver mothers by removing the pups by caesarian section after 15 min of asphyxia. Somatic and neurobehavioral development was tested daily and motor coordination weekly. Our results show that rats undergoing perinatal asphyxia had a marked developmental delay and worse performance in motor coordination tests. However, pups kept in enriched environment showed a decrease in the developmental delay observed in control asphyctic pups. Rats growing up in enriched environment did not show decrease in weight gain after the first week and the delay in reflex appearance was not as marked as in control rats. In addition, the development of motor coordination was not as strikingly delayed as in the control group. Short-term neurofunctional outcome are known to correlate with long-term deficits. Our results thus show that enriched environment could be a powerful strategy to decrease the deleterious developmental effects of perinatal asphyxia. PMID:24232451

  7. The Differences in Clinical Aspect Between Specific Language Impairment and Global Developmental Delay

    PubMed Central

    Kim, Seong Woo; Jeon, Ha Ra; Chung, Hee Jung; Song, Jung Eun

    2014-01-01

    Objective To compare and analyze the clinical characteristics of children with delayed language acquisition due to two different diagnoses, which were specific language impairment (SLI, a primarily delayed language development) and global developmental delay (GDD, a language delay related to cognitive impairment). Methods Among 1,598 children who had visited the developmental delay clinic from March 2005 to February 2011, 467 children who were diagnosed with GDD and 183 children who were diagnosed with SLI were included in this study. All children were questioned about past, family, and developmental history, and their language competences and cognitive function were assessed. Some children got electroencephalography (EEG), in case of need. Results The presence of the perinatal risk factors showed no difference in two groups. In the children with GDD, they had more delayed acquisition of independent walking and more frequent EEG abnormalities compared with the children with SLI (p<0.01). The positive family history of delayed language development was more prevalent in children with SLI (p<0.01). In areas of language ability, the quotient of receptive language and expressive language did not show any meaningful statistical differences between the two groups. Analyzing in each group, the receptive language quotient was higher than expressive language quotient in both group (p<0.01). In the GDD group, the Bayley Scales of Infant Development II (BSID-II) showed a marked low mental and motor quotient while the Wechsler Intelligence Scale showed low verbal and nonverbal IQ. In the SLI group, the BSID-II and Wechsler Intelligence Scale showed low scores in mental area and verbal IQ but sparing motor area and nonverbal IQ. Conclusion The linguistic profiles of children with language delay could not differentiate between SLI and GDD. The clinicians needed to be aware of these developmental issues, and history taking and clinical evaluation, including cognitive assessment

  8. Vineland Adaptive Behavior Profiles in Children with Autism and Moderate to Severe Developmental Delay.

    ERIC Educational Resources Information Center

    Fenton, Gemma; D'Ardia, Caterina; Valente, Donatella; Vecchio, Ilaria del; Fabrizi, Anna; Bernabei, Paola

    2003-01-01

    A study examined adaptive behavior profiles in children (ages 21-108 months) with moderate to severe developmental delay and autism (n=23) and without autism (n=27). The Vineland Adaptive Behavior Scales was administered, and contrary to initial predictions, the sample presented fairly homogeneous adaptive behavior profiles. (Contains references.)…

  9. Maternal Immune-Mediated Conditions, Autism Spectrum Disorders, and Developmental Delay

    ERIC Educational Resources Information Center

    Lyall, Kristen; Ashwood, Paul; Van de Water, Judy; Hertz-Picciotto, Irva

    2014-01-01

    The maternal immune system may play a role in offspring neurodevelopment. We examined whether maternal autoimmune disease, asthma, and allergy were associated with child autism spectrum disorder (ASD) and developmental delay without autism (DD) using 560 ASD cases, 391 typically developing controls, and 168 DD cases from the CHildhood Autism Risk…

  10. Gastrointestinal Problems in Children with Autism, Developmental Delays or Typical Development

    ERIC Educational Resources Information Center

    Chaidez, Virginia; Hansen, Robin L.; Hertz-Picciotto, Irva

    2014-01-01

    To compare gastrointestinal (GI) problems among children with: (1) autism spectrum disorder (ASD), (2) developmental delay (DD) and (3) typical development (TD), GI symptom frequencies were obtained for 960 children from the CHildhood Autism Risks from Genetics and Environment (CHARGE) study. We also examined scores on five Aberrant Behavior…

  11. Comparative Analysis of Crying in Children with Autism, Developmental Delays, and Typical Development

    ERIC Educational Resources Information Center

    Esposito, Gianluca; Venuti, Paola

    2009-01-01

    Crying behavior and mother-infant interactions during episodes of crying were coded using the Cry Observation Codes and then compared for 48 mother-infant dyads of children with autism, children with developmental delays, and typically developing children. At 1 year of age, children who would later be diagnosed with autism showed a different…

  12. Sleep Patterns in Preschool-Age Children with Autism, Developmental Delay, and Typical Development

    ERIC Educational Resources Information Center

    Goodlin-Jones, Beth L.; Tang, Karen; Liu, Jingyi; Anders, Thomas F.

    2008-01-01

    The study investigates sleep disorders by assessing the quantity and quality of sleep in preschool children with autism and comparing them with developmental delay without autism, and typical development. The results prove that sleep patterns are different in preschool children across all three categories.

  13. Peer-Related Social Interactions of Developmentally Delayed Young Children: Development and Characteristics.

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Weinhouse, Ellen

    1984-01-01

    A short-term longitudinal study of the peer-related social interactions of 111 developmentally delayed toddlers and preschool children was carried out. Results suggested the existence of unusually marked deficits in peer interactions. Possible contributing factors were discussed. (Author/RH)

  14. Teaching Ecologically-Based Communication Skills to Persons Who Are Developmentally Delayed.

    ERIC Educational Resources Information Center

    Sousie, Susan P.

    The paper offers a framework for the design, implementation, and evaluation of appropriate, effective communication instructional programs for persons who are severely developmentally delayed. The use of an ecological approach that incorporates the instruction of communication skills with that of activities of daily living (ADL) is emphasized.…

  15. Daytime Sleep Patterns in Preschool Children with Autism, Developmental Delay, and Typical Development

    ERIC Educational Resources Information Center

    Schwichtenberg, A. J.; Iosif, Ana-Maria; Goodlin-Jones, Beth; Tang, Karen; Anders, Thomas

    2011-01-01

    The present study examined daytime sleep patterns in 3 groups of preschool-aged children: children with autism, children with developmental delay, and children who were developing typically. Sleep was assessed in 194 children via actigraphy and parent-report sleep diaries for 7 consecutive days on 3 separate occasions over 6 months. Children with…

  16. Microarray as a First Genetic Test in Global Developmental Delay: A Cost-Effectiveness Analysis

    ERIC Educational Resources Information Center

    Trakadis, Yannis; Shevell, Michael

    2011-01-01

    Aim: Microarray technology has a significantly higher clinical yield than karyotyping in individuals with global developmental delay (GDD). Despite this, it has not yet been routinely implemented as a screening test owing to the perception that this approach is more expensive. We aimed to evaluate the effect that replacing karyotype with…

  17. Maternal Sensitivity and Behaviour Problems in Young Children with Developmental Delay

    ERIC Educational Resources Information Center

    Niccols, Alison; Feldman, Maurice

    2006-01-01

    Children with developmental delay are at increased risk for behaviour problems, but little is known about risk and resilience factors. Previous research has established links between maternal sensitivity and behaviour problems in typically developing children, but no studies have examined maternal sensitivity in the development of behaviour…

  18. Marital Satisfaction, Parental Stress, and Child Behavior Problems among Parents of Young Children with Developmental Delays

    ERIC Educational Resources Information Center

    Robinson, Merideth; Neece, Cameron L.

    2015-01-01

    Studies have found that low marital satisfaction, parenting stress, and child behavior problems are linked in families of children with developmental delays (DD). However, previous investigations examining the relationships between parenting stress, child behavior problems, and marital satisfaction rarely examine the interrelationships of these…

  19. Randomized Comparison of Augmented and Nonaugmented Language Interventions for Toddlers with Developmental Delays and Their Parents

    ERIC Educational Resources Information Center

    Romski, MaryAnn; Sevcik, Rose A.; Adamson, Lauren B.; Cheslock, Melissa; Smith, Ashlyn; Barker, R. Michael; Bakeman, Roger

    2010-01-01

    Purpose: This study compared the language performance of young children with developmental delays who were randomly assigned to 1 of 3 parent-coached language interventions. Differences in performance on augmented and spoken word size and use, vocabulary size, and communication interaction skills were examined. Method: Sixty-eight toddlers with…

  20. Gastrointestinal Problems in Children with Autism, Developmental Delays or Typical Development

    ERIC Educational Resources Information Center

    Chaidez, Virginia; Hansen, Robin L.; Hertz-Picciotto, Irva

    2014-01-01

    To compare gastrointestinal (GI) problems among children with: (1) autism spectrum disorder (ASD), (2) developmental delay (DD) and (3) typical development (TD), GI symptom frequencies were obtained for 960 children from the CHildhood Autism Risks from Genetics and Environment (CHARGE) study. We also examined scores on five Aberrant Behavior…

  1. Barriers to Family-Centered Services for Infants and Toddlers with Developmental Delays

    ERIC Educational Resources Information Center

    Shannon, Patrick

    2004-01-01

    Social workers have become increasingly involved in providing family-centered services to families with infants and toddlers who have developmental delays. This study examined the perceptions of barriers to family-centered services of 22 family members and 20 services providers in one local services delivery system. A family-centered approach…

  2. Small Steps: An Early Intervention Program for Children with Developmental Delays.

    ERIC Educational Resources Information Center

    Pieterse, Moira; And Others

    This boxed set includes eight booklets of home activities for early intervention for young children with developmental delays. The first book provides an introduction to the program and its implementation, lists 23 resources, describes a videotape which supplements the booklets, and includes a glossary. Book 2 covers how to select goals for the…

  3. Effects of Parent-Based Video Home Training in Children with Developmental Language Delay

    ERIC Educational Resources Information Center

    van Balkom, Hans; Verhoeven, Ludo; van Weerdenburg, Marjolijn; Stoep, Judith

    2010-01-01

    An efficacy study of an indirect or Parent-based intervention programme involving Video Home Training (PVHT) was conducted with a focus on parental strategies to (re-)establish coherence in conversations between young children with Developmental Language Delay (DLD) and their parents or caregivers. In order to assess the efficacy of the PVHT…

  4. Mothers' Social Communicative Adjustments to Young Children with Mild Developmental Delays

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Neville, Brian; Hammond, Mary A.; Connor, Robert T.

    2008-01-01

    The social communication and compliance patterns of 63 mothers interacting with their young children who had mild developmental delays in social play and instructional tasks were examined in a longitudinal study. Results were consistent with the hypothesis that mothers appropriately adjust their social communications in accordance with children's…

  5. Responsive Interaction Interventions for Children with or at Risk for Developmental Delays: A Research Synthesis

    ERIC Educational Resources Information Center

    Kong, Na Young; Carta, Judith J.

    2013-01-01

    The purpose of this article is to synthesize the available studies regarding responsive interaction intervention (RII) for children with or at risk for developmental delays with a focus on six dimensions: (a) the characteristics of participants, (b) the features of RII, (c) the measurement of treatment fidelity, (d) the overall effectiveness of…

  6. Maternal Immune-Mediated Conditions, Autism Spectrum Disorders, and Developmental Delay

    ERIC Educational Resources Information Center

    Lyall, Kristen; Ashwood, Paul; Van de Water, Judy; Hertz-Picciotto, Irva

    2014-01-01

    The maternal immune system may play a role in offspring neurodevelopment. We examined whether maternal autoimmune disease, asthma, and allergy were associated with child autism spectrum disorder (ASD) and developmental delay without autism (DD) using 560 ASD cases, 391 typically developing controls, and 168 DD cases from the CHildhood Autism Risk…

  7. Introduction to Sexuality Education for Individuals Who Are Deaf-Blind and Significantly Developmentally Delayed.

    ERIC Educational Resources Information Center

    Moss, Kate; Blaha, Robbie

    The ten chapters of this book address sexuality issues in the lives of school age individuals who are deaf-blind or significantly developmentally delayed. It notes that these individuals usually do not experience sexuality through typical relationships and thus require a different type of instruction. Chapters have the following titles: (1)…

  8. Microarray as a First Genetic Test in Global Developmental Delay: A Cost-Effectiveness Analysis

    ERIC Educational Resources Information Center

    Trakadis, Yannis; Shevell, Michael

    2011-01-01

    Aim: Microarray technology has a significantly higher clinical yield than karyotyping in individuals with global developmental delay (GDD). Despite this, it has not yet been routinely implemented as a screening test owing to the perception that this approach is more expensive. We aimed to evaluate the effect that replacing karyotype with…

  9. Motivational Climate, Motor-Skill Development, and Perceived Competence: Two Studies of Developmentally Delayed Kindergarten Children

    ERIC Educational Resources Information Center

    Valentini, Nadia; Rudisill, Mary E.

    2004-01-01

    Two studies were conducted to examine the effects of motivational climate on motor-skill development and perceived physical competence in kindergarten children with developmental delays. In Experiment 1, two intervention groups were exposed to environments with either high (mastery climate) or low autonomy for 12 weeks. Results showed that the…

  10. Marital Satisfaction, Parental Stress, and Child Behavior Problems among Parents of Young Children with Developmental Delays

    ERIC Educational Resources Information Center

    Robinson, Merideth; Neece, Cameron L.

    2015-01-01

    Studies have found that low marital satisfaction, parenting stress, and child behavior problems are linked in families of children with developmental delays (DD). However, previous investigations examining the relationships between parenting stress, child behavior problems, and marital satisfaction rarely examine the interrelationships of these…

  11. Hyperresponsive Sensory Patterns in Young Children with Autism, Developmental Delay, and Typical Development

    ERIC Educational Resources Information Center

    Baranek, Grace T.; Boyd, Brian A.; Poe, Michele D.; David, Fabian J.; Watson, Linda R.

    2007-01-01

    The nature of hyperresponsiveness to sensory stimuli in children with autism, using a new observational measure, the SPA, was examined. Three groups of young participants were assessed (autism, developmental delay, typical). Across all groups, MA was a predictor of hyperresponsiveness, such that aversion to multisensory toys decreased as MA…

  12. Sleep Patterns in Preschool-Age Children with Autism, Developmental Delay, and Typical Development

    ERIC Educational Resources Information Center

    Goodlin-Jones, Beth L.; Tang, Karen; Liu, Jingyi; Anders, Thomas F.

    2008-01-01

    The study investigates sleep disorders by assessing the quantity and quality of sleep in preschool children with autism and comparing them with developmental delay without autism, and typical development. The results prove that sleep patterns are different in preschool children across all three categories.

  13. The Negative Effects of Positive Reinforcement in Teaching Children with Developmental Delay.

    ERIC Educational Resources Information Center

    Biederman, Gerald B.; And Others

    1994-01-01

    This study compared the performance of 12 children (ages 4 to 10) with developmental delay, each trained in 2 tasks, one through interactive modeling (with or without verbal reinforcement) and the other through passive modeling. Results showed that passive modeling produced better rated performance than interactive modeling and that verbal…

  14. "Crack Kids" in School: What To Do, How To Do It. Pervasively Developmentally Delayed (PDD).

    ERIC Educational Resources Information Center

    Odom-Winn, Danni; Dunagan, Dianne E.

    This book addresses the educational needs of children who are pervasively developmentally delayed (PDD), especially those exposed to drugs prenatally and those with Fetal Alcohol Syndrome, autism, hyperactivity, Aspberger Syndrome, other heath impairments, attention deficit disorder, and childhood aphasia. The first chapter recommends the use of…

  15. Graduated Guidance Delivered by Parents to Teach Yoga to Children with Developmental Delays

    ERIC Educational Resources Information Center

    Gruber, Deborah J.; Poulson, Claire L.

    2016-01-01

    We evaluated the effects of a parent-implemented intervention to teach yoga poses to 3 children with developmental delays. Graduated guidance, provided by the participants' mothers, was introduced in a multiple baseline design across the participants. With the introduction of intervention, imitation of the response chains increased over baseline…

  16. Motor Skill Interventions to Improve Fundamental Movement Skills of Preschoolers with Developmental Delay

    ERIC Educational Resources Information Center

    Kirk, Megan A.; Rhodes, Ryan E.

    2011-01-01

    Preschoolers with developmental delay (DD) are at risk for poor fundamental movement skills (FMS), but a paucity of early FMS interventions exist. The purpose of this review was to critically appraise the existing interventions to establish direction for future trials targeting preschoolers with DD. A total of 11 studies met the inclusion…

  17. Ecocultural Assessment in Families of Children with Developmental Delays: Construct and Concurrent Validities.

    ERIC Educational Resources Information Center

    Nihira, Kazuo; And Others

    1993-01-01

    Home interviews conducted with 102 families of children with developmental delays assessed ecocultural family resources, values, goals, and proactive adaptive efforts. Factor analyses on the ecocultural measures revealed 12 salient factors. Some factors were unique and statistically independent of traditional home environment measures. Significant…

  18. Continuity and Change in the Social Competence of Children with Autism, Down Syndrome, and Developmental Delays.

    ERIC Educational Resources Information Center

    Sigman, Marian; Ruskin, Ellen

    1999-01-01

    Assessed continuity and change in diagnosis, intelligence, and language skills in children with autism, Down Syndrome, and other developmental delays, identifying precursors of gains in language skills and peer engagement in mid-school years. Found that early nonverbal communication and play skills predicted initiations of peer play for Down…

  19. Responsive Interaction Interventions for Children with or at Risk for Developmental Delays: A Research Synthesis

    ERIC Educational Resources Information Center

    Kong, Na Young; Carta, Judith J.

    2013-01-01

    The purpose of this article is to synthesize the available studies regarding responsive interaction intervention (RII) for children with or at risk for developmental delays with a focus on six dimensions: (a) the characteristics of participants, (b) the features of RII, (c) the measurement of treatment fidelity, (d) the overall effectiveness of…

  20. Graduated Guidance Delivered by Parents to Teach Yoga to Children with Developmental Delays

    ERIC Educational Resources Information Center

    Gruber, Deborah J.; Poulson, Claire L.

    2016-01-01

    We evaluated the effects of a parent-implemented intervention to teach yoga poses to 3 children with developmental delays. Graduated guidance, provided by the participants' mothers, was introduced in a multiple baseline design across the participants. With the introduction of intervention, imitation of the response chains increased over baseline…

  1. Movement Exploration as a Technique for Teaching Pre-Swimming Skills to Students with Developmental Delays.

    ERIC Educational Resources Information Center

    Buis, Joyce M.; Schane, Catherine S.

    1980-01-01

    Background, rationale, and techniques for using movement exploration to teach preswimming skills to developmentally delayed persons are given. Objectives (beyond the primary one of safety) of such a program include body awareness, spatial awareness, movement, and perceptual motor functions. Guidelins for activity selection and adaptation are…

  2. Vineland Adaptive Behavior Profiles in Children with Autism and Moderate to Severe Developmental Delay.

    ERIC Educational Resources Information Center

    Fenton, Gemma; D'Ardia, Caterina; Valente, Donatella; Vecchio, Ilaria del; Fabrizi, Anna; Bernabei, Paola

    2003-01-01

    A study examined adaptive behavior profiles in children (ages 21-108 months) with moderate to severe developmental delay and autism (n=23) and without autism (n=27). The Vineland Adaptive Behavior Scales was administered, and contrary to initial predictions, the sample presented fairly homogeneous adaptive behavior profiles. (Contains references.)…

  3. Global Perspective on Early Diagnosis and Intervention for Children with Developmental Delays and Disabilities

    ERIC Educational Resources Information Center

    Scherzer, Alfred L.; Chhagan, Meera; Kauchali, Shuaib; Susser, Ezra

    2012-01-01

    Low- and middle-income countries are experiencing a significant reduction in mortality of children under 5 years of age. This reduction is bringing in its wake large numbers of surviving children with developmental delays and disabilities. Very little attention has been paid to these children, most of whom receive minimal or no support. Thus,…

  4. Peer-Related Social Interactions of Developmentally Delayed Young Children: Development and Characteristics.

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Weinhouse, Ellen

    1984-01-01

    A short-term longitudinal study of the peer-related social interactions of 111 developmentally delayed toddlers and preschool children was carried out. Results suggested the existence of unusually marked deficits in peer interactions. Possible contributing factors were discussed. (Author/RH)

  5. Role of Religion in the Lives of Latino Families of Young Children with Developmental Delays.

    ERIC Educational Resources Information Center

    Skinner, Debra G.; Correa, Vivian; Skinner, Martie; Bailey, Donald B., Jr.

    2001-01-01

    Parents (N=250) of Mexican and Puerto Rican origin and with young children with developmental delays were interviewed concerning the role of religion in their lives. Most parents viewed both church and faith as supportive. Thematic analysis revealed specific religious beliefs and practices parents viewed as supportive and the religious frameworks…

  6. Formula Switch Leads to Enteral Feeding Tolerance Improvements in Children With Developmental Delays

    PubMed Central

    Minor, Gerard; Ochoa, Juan B.; Storm, Heidi; Periman, Seletha

    2016-01-01

    Background: Children with developmental delays are often dependent on enteral nutrition. The aim of our study was to evaluate improvement in tolerance parameters in these children who were switched from an intact protein formula to a 100% whey, peptide-based formula. Methods: A retrospective chart review of children with developmental delays who were failing to reach adequate nutritional goals on standard polymeric formulas were switched to a 100% whey peptide-based formula. Enteral volume goals, caloric goals, and change in medication used to improve feeding tolerance were assessed before and after formula switch. Results: Medical records of 13 children (aged 8.4 ± 4.6 years) met criteria. All children had a primary diagnosis of developmental delay, and 77% were fed via gastrostomy tube. Of the 13 children assessed, 92% experienced improved feeding tolerance, and 75% of these reported the time to improvement within 1 week after formula switch. Feeding tolerance parameters that improved were vomiting (86%), gagging and retching (75%), high residual volumes (63%), constipation (43%), diarrhea (100%), and poor weight gain (100%). Conclusion: Switching to a 100% whey, peptide-based formula improved symptoms of feeding intolerance in the majority of these developmentally delayed children. PMID:28229094

  7. Developmentally Delayed Children's Influence Attempts with Mothers Predict Interactions with Peers over Time

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Connor, Robert T.; Neville, Brian; Hammond, Mary A.

    2008-01-01

    We examined whether influence attempts of 4-6 year-old children with mild developmental delays occurring when interacting with their mothers predicted children's interactions with peers two years later. Hierarchical regressions controlling for relevant child characteristics and a measure of direct parental actions to influence their children's…

  8. Hyperresponsive Sensory Patterns in Young Children with Autism, Developmental Delay, and Typical Development

    ERIC Educational Resources Information Center

    Baranek, Grace T.; Boyd, Brian A.; Poe, Michele D.; David, Fabian J.; Watson, Linda R.

    2007-01-01

    The nature of hyperresponsiveness to sensory stimuli in children with autism, using a new observational measure, the SPA, was examined. Three groups of young participants were assessed (autism, developmental delay, typical). Across all groups, MA was a predictor of hyperresponsiveness, such that aversion to multisensory toys decreased as MA…

  9. Randomized Comparison of Augmented and Nonaugmented Language Interventions for Toddlers with Developmental Delays and Their Parents

    ERIC Educational Resources Information Center

    Romski, MaryAnn; Sevcik, Rose A.; Adamson, Lauren B.; Cheslock, Melissa; Smith, Ashlyn; Barker, R. Michael; Bakeman, Roger

    2010-01-01

    Purpose: This study compared the language performance of young children with developmental delays who were randomly assigned to 1 of 3 parent-coached language interventions. Differences in performance on augmented and spoken word size and use, vocabulary size, and communication interaction skills were examined. Method: Sixty-eight toddlers with…

  10. The Role of Maternal Depression in Accessing Early Intervention Services for Children with Developmental Delay

    ERIC Educational Resources Information Center

    Colgan, Siobhan Eileen

    2012-01-01

    This study investigated the relationship between maternal depression and children's access to early intervention services among a sample of children with developmental delay at age two who were determined to be eligible for early intervention services, were full term and of normal birth weight, and were not previously identified with any special…

  11. Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.

    PubMed

    Adam, Margaret P; Justice, April N; Schelley, Susan; Kwan, Andrea; Hudgins, Louanne; Martin, Christa L

    2009-01-01

    Microarray-based comparative genomic hybridization can determine genome-wide copy number alterations at the kilobase level. We highlight the clinical utility of microarray-based comparative genomic hybridization in determining tumor susceptibility in 3 patients with dysmorphic features and developmental delay, likely decreasing both morbidity and mortality in these patients.

  12. Adapting Webster-Stratton’s Incredible Years Parent Training for Children with Developmental Delay

    PubMed Central

    Lee McIntyre, Laura

    2008-01-01

    Background Children with intellectual or developmental disabilities (ID/DD) are more likely than typically developing children to experience behaviour problems. Parent training, such as the Incredible Years Parent Training (IYPT) series, has been a widely used intervention to support families with children with or at-risk for behaviour problems; yet to date, this programme has not been used with parents with young children with developmental delay or disabilities. Method This preliminary treatment group only study assessed the feasibility of implementing a modified parent training programme (IYPT-DD) with 25 families with 2-5 year old children with developmental delay. Intervention consisted of 12 weekly (2 ½ hour) sessions with topics covering developmentally appropriate play, praise, rewards, limit setting, and handling challenging behaviour. Results Results suggest preliminary evidence of efficacy in reducing negative parent and child behaviour and increasing parental perceptions of child positive impact. Conclusions This study provides evidence for the feasibility of the DD modifications applied to the IYPT. Although this approach is promising, additional evidence is needed to address the efficacy of IYPT-DD in children with developmental delay. PMID:18671808

  13. Parenting children with and without developmental delay: the role of self-mastery.

    PubMed

    Paczkowski, E; Baker, B L

    2007-06-01

    While parenting behaviours have direct effects on children's behavioural outcomes, other, more distal factors also may be shaping the way a mother handles parenting responsibilities. Dispositional factors are likely to be a major influence in determining how one parents. Although researchers have studied the relationships among maternal dispositional factors, parenting, and child behaviours, few studies have examined these relationships when the child is at developmental risk. Children with developmental delays evidence elevated clinical level behaviour problems, so this group is of primary interest in the search for precursors to psychopathology. The present study examined how the maternal dispositional trait of self-mastery, as well as supportive and non-supportive parenting, relate to behaviour problems in young children with and without developmental delay. Participants were 225 families, drawn from Central Pennsylvania and Southern California. The children, all aged 4 years, were classified as delayed (n = 97) or non-delayed (n = 128). The Self-Mastery Scale measured perceived level of control over life events. The Coping with Children's Negative Emotions Scale measured different ways parents perceive themselves as reacting to their children's distress and negative affect. The Child Behavior Checklist assessed children's behaviour problems. Delayed condition mothers reported significantly more child behaviour problems than non-delayed condition mothers; the two conditions did not differ in self-mastery, supportive parenting, or non-supportive parenting. Self-mastery, non- supportive parenting reactions, and child behaviour problems all related significantly to one another. For the sample as a whole and within the delayed condition, the association between self-mastery and child behaviour problems was partially mediated by non-supportive parenting reactions, although self-mastery was still significantly associated with problem behaviour. In the non-delayed

  14. Congenital idiopathic microcephaly in an infant: congruence of head size with developmental motor delay.

    PubMed

    Harris, Susan R

    2013-01-01

    To determine if the degree of congenital, idiopathic microcephaly in a female infant was congruent with the degree of developmental motor delay she exhibited. A 6.5-month-old female infant with idiopathic microcephaly was referred for evaluation due to parental concerns about possible cerebral palsy. She was assessed with two standardized tests: the Motor Scale of the Bayley-II Scales of Infant Development and the Harris Infant Neuromotor Test. The infant scored 2.3-2.6 SD (standard deviation) from the mean on both tests, a degree of developmental delay that was reasonably consistent with the degree of microcephaly (2.0 SD below the mean). These findings highlight the importance of head circumference measurements, even in infants with no known risks for microcephaly, and the need to conduct standardized developmental assessments in infants with head sizes ≥2 SD below the mean.

  15. Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

    PubMed

    Fan, Yanjie; Qiu, Wenjuan; Wang, Lili; Gu, Xuefan; Yu, Yongguo

    2016-02-01

    Genomic rearrangements involving dosage change of genes have been implicated in a range of developmental disorders. Increasing evidences suggest copy number variations (CNVs) of autism susceptibility candidate gene 2 (AUTS2) are associated with a syndromic form of developmental delay and intellectual disability. However, the genetic and clinical profiles involving AUTS2 variations have not been fully characterized in Asian patients yet, and the outcome of treatments has not been reported. Here we report de novo exonic deletions of AUTS2 detected by chromosomal microarray analysis (CMA) in three Chinese children referred to the clinic for developmental delay, including two deletions involving only exon 6 (98.4 and 262 kb, respectively) and one deletion involving the C-terminal of AUTS2 (2147 kb). The phenotypic presentations of these three patients were described and compared with previous cases in literature. In addition, we presented the outcome of hormonal treatment for short stature in one patient.

  16. Longitudinal Analyses of Geographic Differences in Utilization Rates of Children with Developmental Delays Who Participation in Early Intervention Services

    ERIC Educational Resources Information Center

    Lin, Jin-Ding; Chen, Yong-Chen; Chou, Yu-Ching

    2012-01-01

    The purposes of the present study were to describe the longitudinal utilization rates of participation in early intervention services of children with developmental delays, and to examine the geographical difference of services in this vulnerable population. We analyzed service utilization of the developmentally delayed children based on data of…

  17. Barriers to Success in Parent Training for Young Children with Developmental Delay: The Role of Cumulative Risk

    ERIC Educational Resources Information Center

    Bagner, Daniel M.; Graziano, Paulo A.

    2013-01-01

    The purpose of this study was to examine the effect of cumulative risk on dropout and treatment outcome in parent training. Participants were 44 families of young children (mean age of 49.59 months) who presented with elevated externalizing behavior problems and developmental delay or borderline developmental delay. All families were offered to…

  18. Parent Pathways: Recognition and Responses to Developmental Delays in Young Children: A Mixed-Methods Exploratory Study

    ERIC Educational Resources Information Center

    Marshall, Jennifer Tess

    2013-01-01

    The importance of early recognition and intervention for developmental delays is increasingly acknowledged, yet high rates of under-enrollment and 1-3 year delays in entry to the public early intervention system continue. Much research has examined developmental screening in health and child care settings, but less well understood is what prompts…

  19. Longitudinal Analyses of Geographic Differences in Utilization Rates of Children with Developmental Delays Who Participation in Early Intervention Services

    ERIC Educational Resources Information Center

    Lin, Jin-Ding; Chen, Yong-Chen; Chou, Yu-Ching

    2012-01-01

    The purposes of the present study were to describe the longitudinal utilization rates of participation in early intervention services of children with developmental delays, and to examine the geographical difference of services in this vulnerable population. We analyzed service utilization of the developmentally delayed children based on data of…

  20. Barriers to Success in Parent Training for Young Children with Developmental Delay: The Role of Cumulative Risk

    ERIC Educational Resources Information Center

    Bagner, Daniel M.; Graziano, Paulo A.

    2013-01-01

    The purpose of this study was to examine the effect of cumulative risk on dropout and treatment outcome in parent training. Participants were 44 families of young children (mean age of 49.59 months) who presented with elevated externalizing behavior problems and developmental delay or borderline developmental delay. All families were offered to…

  1. Gender and Geographic Differences in Developmental Delays among Young Children: Analysis of the Data from the National Registry in Taiwan

    ERIC Educational Resources Information Center

    Lai, Der-Chung; Tseng, Yen-Cheng; Guo, How-Ran

    2011-01-01

    Although developmental delays are not uncommon in children, the incidence is seldom assessed, and the reported prevalence varies widely. In Taiwan, the government mandates the reporting of suspected cases. Using the national registry data, we conducted a study to estimate the incidence and prevalence of developmental delays in young children in…

  2. Parent Pathways: Recognition and Responses to Developmental Delays in Young Children: A Mixed-Methods Exploratory Study

    ERIC Educational Resources Information Center

    Marshall, Jennifer Tess

    2013-01-01

    The importance of early recognition and intervention for developmental delays is increasingly acknowledged, yet high rates of under-enrollment and 1-3 year delays in entry to the public early intervention system continue. Much research has examined developmental screening in health and child care settings, but less well understood is what prompts…

  3. DNA Damage Analysis in Children with Non-syndromic Developmental Delay by Comet Assay

    PubMed Central

    Chand, Parkash; Ballambattu, Vishnu Bhat; Hanumanthappa, Nandeesha; Veeramani, Raveendranath

    2016-01-01

    Introduction Majority of the developmental delays in children are non-syndromic and they are believed to have an underlying DNA damage, though not well substantiated. Hence the present study was carried out to find out if there is any increased DNA damage in children with non-syndromic developmental delay by using the comet assay. Aim The present case-control study was undertaken to assess the level of DNA damage in children with non syndromic developmental delay and compare the same with that of age and sex matched controls using submarine gel electrophoresis (Comet Assay). Materials and Methods The blood from clinically diagnosed children with non syndromic developmental delay and controls were subjected for alkaline version of comet assay – Single cell gel electrophoresis using lymphocytes isolated from the peripheral blood. The comets were observed under a bright field microscope; photocaptured and scored using the Image J image quantification software. Comet parameters were compared between the cases and controls and statistical analysis and interpretation of results was done using the statistical software SPSS version 20. Results The mean comet tail length in cases and control was 20.77+7.659μm and 08.97+4.398μm respectively which was statistically significant (p<0.001). Other comet parameters like total comet length and % DNA in tail also showed a statistically significant difference (p < 0.001) between cases and controls. Conclusion The current investigation unraveled increased levels of DNA damage in children with non syndromic developmental delay when compared to the controls. PMID:27437200

  4. Approximate Entropy Used to Assess Sitting Postural Sway of Infants with Developmental Delay

    PubMed Central

    Deffeyes, Joan E.; Harbourne, Regina T.; Stuberg, Wayne A.; Stergiou, Nicholas

    2010-01-01

    Infant sitting postural sway provides a window into motor development at an early age. The approximate entropy, a measure of randomness, in the postural sway was used to assess developmental delay, as occurs in cerebral palsy. Parameters used for the calculation of approximate entropy were investigated, and approximate entropy of postural sway in early sitting was found to be lower for infants with developmental delay in the anterior-posterior axis, but not in the medial-lateral axis. Spectral analysis showed higher frequency features in the postural sway of early sitting of infants with typical development, suggesting a faster control mechanism is active in infants with typical development as compared to infants with delayed development, perhaps activated by near-fall events. PMID:21129778

  5. Developmental and behavior problems predict parenting stress in young children with global delay.

    PubMed

    Tervo, Raymond C

    2012-03-01

    To identify parent-reported symptoms that predict parenting stress in preschoolers with global developmental delay, 201 parents/guardians of 142 boys and 59 girls with global delay, mean age 39.1 months (range, 18 to 63 months) were studied retrospectively. Parents completed the following: (a) a semistructured interview; (b) the Child Development Inventory, (c) Child Behavior Checklist 1½-5, and the (d) Parenting Stress Index-Short Form. Forty-two percent of parents described clinically significant parenting stress (≥ 85th percentile). The Parenting Stress Index-Short Form subscales Difficult Child and Parent-Child Dysfunctional Interactions were elevated. Parental stress increased with higher gross motor development and decreased as social and fine-motor ratios increased. Furthermore, stress increased when parents reported higher levels on the Emotionally Reactive and Withdrawn scale scores and when parents reported Pervasive Developmental and Oppositional Defiant Problems. In mobile children with global delay, behavior problems predict parenting stress.

  6. A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay

    PubMed Central

    Baratela, Wagner A.R.; Bober, Michael B.; Tiller, George E.; Okenfuss, Ericka; Ditro, Colleen; Duker, Angela; Krakow, Deborah; Stabley, Deborah L.; Sol-Church, Katia; Mackenzie, William; Lachman, Ralph; Scott, Charles I.

    2014-01-01

    We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral necks, shallow acetabular roofs, and platyspondyly. Facial features include: a flattened midface with broad nasal bridge, cleft palate or bifid uvula and synophrys. All of the patients demonstrated pre-school onset of a cognitive developmental delay with a shortened attention span. Some of the cognitive delay was masked by a warm and engaging personality. We posit that these individuals have a newly recognized syndrome characterized by the described features. There is some phenotypic overlap between these patients and Desbuquois dysplasia; however molecular testing demonstrated that this is a distinct disorder. Given the family information available for each patient, we are suspicious that the constellation of findings reported herein could be an X-linked recessive syndrome. PMID:22711505

  7. Assessing developmental delay in early childhood - concerns with the Bayley-III scales.

    PubMed

    Anderson, Peter J; Burnett, Alice

    2017-02-01

    Early detection of children with developmental delay is crucial for determining which children require close surveillance and intervention services. For many decades, the Bayley Scales has been the most widely used objective measure of early developmental delay, both in clinical and research settings. Significant structural changes were incorporated in the most recent edition, the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III). This article reviews the psychometric properties of the Bayley-III and investigates criticisms raised on the Bayley-III, namely that it overestimates developmental status and is a poor predictor of later functioning. This critical review examines the literature on the Bayley-III, which was released in 2006. The Cognitive, Language, and Motor composites of the Bayley-III overestimate development, resulting in an under-identification of children with developmental delay. A range of strategies have been proposed for dealing with the inflated scores on the Bayley-III, none of which are ideal. Evidence to date suggests that the Bayley-III is a poor predictor of later cognitive and motor impairments. The Bayley-III needs new norms, or alternatively, it may be time for a new edition of the Bayley Scales.

  8. Facilitating relational framing in children and individuals with developmental delay using the relational completion procedure.

    PubMed

    Walsh, Sinead; Horgan, Jennifer; May, Richard J; Dymond, Simon; Whelan, Robert

    2014-01-01

    The Relational Completion Procedure is effective for establishing same, opposite and comparative derived relations in verbally able adults, but to date it has not been used to establish relational frames in young children or those with developmental delay. In Experiment 1, the Relational Completion Procedure was used with the goal of establishing two 3-member sameness networks in nine individuals with Autism Spectrum Disorder (eight with language delay). A multiple exemplar intervention was employed to facilitate derived relational responding when required. Seven of nine participants in Experiment 1 passed tests for derived relations. In Experiment 2, eight participants (all of whom, except one, had a verbal repertoire) were given training with the aim of establishing two 4-member sameness networks. Three of these participants were typically developing young children aged between 5 and 6 years old, all of whom demonstrated derived relations, as did four of the five participants with developmental delay. These data demonstrate that it is possible to reliably establish derived relations in young children and those with developmental delay using an automated procedure.

  9. Oral Health Characteristics and Dental Rehabilitation of Children with Global Developmental Delay

    PubMed Central

    2017-01-01

    Global developmental delay (GDD) is a chronic neurological disturbance which includes defects in one or more developmental domains. The developmental domain can be motor, cognitive, daily activities, speech or language, and social or personal development. The etiology for GDD can be prenatal, perinatal, or postnatal. It can be diagnosed early in childhood as the delay or absence of one or more developmental milestones. Hence the role of pedodontist and pediatricians becomes more crucial in identifying this condition. The diagnosis of GDD requires a detailed history including family history and environmental risk factors followed by physical and neurological examinations. Investigations for GDD include diagnostic laboratory tests, brain imaging, and other evidence-based evaluations. GDD affects multiple developmental domains that not only have direct bearing on maintenance of oral health, but also require additional behavior management techniques to deliver optimal dental care. This paper describes two different spectra of children with GDD. Since the severity of GDD can vary, this paper also discusses the different behavior management techniques that were applied to provide dental treatment in such children. PMID:28250997

  10. Genetic testing in patients with global developmental delay / intellectual disabilities. A review.

    PubMed

    Miclea, Diana; Peca, Loredana; Cuzmici, Zina; Pop, Ioan Victor

    2015-01-01

    Genetic factors are responsible for up to 40% developmental disability cases, such as global developmental delay/intellectual disability (GDD/DI). The American and more recently the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI.

  11. Genetic testing in patients with global developmental delay / intellectual disabilities. A review

    PubMed Central

    MICLEA, DIANA; PECA, LOREDANA; CUZMICI, ZINA; POP, IOAN VICTOR

    2015-01-01

    Genetic factors are responsible for up to 40% developmental disability cases, such as global developmental delay/intellectual disability (GDD/DI). The American and more recently the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI. PMID:26609258

  12. Screening for developmental delay among children aged 1-4 years: a systematic review

    PubMed Central

    Warren, Rachel; Kenny, Meghan; Bennett, Teresa; Fitzpatrick-Lewis, Donna; Ali, Muhammad Usman; Sherifali, Diana; Raina, Parminder

    2016-01-01

    Background: Existing guidelines on screening children less than 5 years of age for developmental delay vary. In this systematic review, we synthesized the literature on the effectiveness and harms of screening for developmental delay in asymptomatic children aged 1-4 years. Methods: We searched MEDLINE, Embase and PsychINFO for relevant articles published to June 16, 2015. We identified studies that included children aged 1-4 years who were not at high risk of developmental delay, screened in a primary care setting. Randomized trials and controlled cohort studies were considered for benefits (cognitive, academic and functional outcomes); no restrictions on study design were imposed for the review of harms. Results: Two studies were included. One used the Ages and Stages Questionnaire II for screening and reported significantly more referrals to early intervention in the intervention groups than in the control group (relative risk [RR] 1.95, 95% confidence interval [CI] 1.49-2.54, in the intervention group with office support and RR 1.71, 95% CI 1.30-2.25, in the intervention group without office support). The time to referral was 70% shorter in the intervention group with office support (rate ratio 0.30, 95% CI 0.19-0.48) and 64% shorter in the intervention group without office support (rate ratio 0.36, 95% CI 0.23-0.59), compared with the control group. The other study used the VroegTijdige Onderkenning Ontwikkelingsstoornissen Language Screening instrument to screen children aged 15 months at enrolment for language delay. It reported no differences between groups in academic performance outcomes at age 8 years. Interpretation: The evidence on screening for developmental delay in asymptomatic children aged 1-4 years is inconclusive. Further research with longer-term outcomes is needed to inform decisions about screening and screening intervals. PMID:27226967

  13. Graduated guidance delivered by parents to teach yoga to children with developmental delays.

    PubMed

    Gruber, Deborah J; Poulson, Claire L

    2016-03-01

    We evaluated the effects of a parent-implemented intervention to teach yoga poses to 3 children with developmental delays. Graduated guidance, provided by the participants' mothers, was introduced in a multiple baseline design across the participants. With the introduction of intervention, imitation of the response chains increased over baseline for all participants. Generalization to novel and live models occurred for 2 participants. Results are discussed in terms of using behavior-analytic procedures to teach physical fitness activities to individuals with developmental disabilities.

  14. Association of Arsenic Methylation Capacity with Developmental Delays and Health Status in Children: A Prospective Case–Control Trial

    NASA Astrophysics Data System (ADS)

    Hsueh, Yu-Mei; Chen, Wei-Jen; Lee, Chih-Ying; Chien, Ssu-Ning; Shiue, Horng-Sheng; Huang, Shiau-Rung; Lin, Ming-I.; Mu, Shu-Chi; Hsieh, Ru-Lan

    2016-11-01

    This case–control study identified the association between the arsenic methylation capacity and developmental delays and explored the association of this capacity with the health status of children. We recruited 120 children with developmental delays and 120 age- and sex-matched children without developmental delays. The health status of the children was assessed using the Pediatric Quality of Life Inventory (PedsQL) and Pediatric Outcomes Data Collection Instrument (PODCI). The arsenic methylation capacity was determined by the percentages of inorganic arsenic (InAs%), monomethylarsonic acid (MMAV%), and dimethylarsinic acid (DMAV%) through liquid chromatography and hydride generation atomic absorption spectrometry. Developmental delays were significantly positively associated with the total urinary arsenic concentration, InAs%, and MMAV%, and was significantly negatively associated with DMAV% in a dose-dependent manner. MMAV% was negatively associated with the health-related quality of life (HRQOL; ‑1.19 to ‑1.46, P < 0.01) and functional performance (‑0.82 to ‑1.14, P < 0.01), whereas DMAV% was positively associated with HRQOL (0.33–0.35, P < 0.05) and functional performance (0.21–0.39, P < 0.01–0.05) in all children and in those with developmental delays. The arsenic methylation capacity is dose-dependently associated with developmental delays and with the health status of children, particularly those with developmental delays.

  15. Association of Arsenic Methylation Capacity with Developmental Delays and Health Status in Children: A Prospective Case–Control Trial

    PubMed Central

    Hsueh, Yu-Mei; Chen, Wei-Jen; Lee, Chih-Ying; Chien, Ssu-Ning; Shiue, Horng-Sheng; Huang, Shiau-Rung; Lin, Ming-I; Mu, Shu-Chi; Hsieh, Ru-Lan

    2016-01-01

    This case–control study identified the association between the arsenic methylation capacity and developmental delays and explored the association of this capacity with the health status of children. We recruited 120 children with developmental delays and 120 age- and sex-matched children without developmental delays. The health status of the children was assessed using the Pediatric Quality of Life Inventory (PedsQL) and Pediatric Outcomes Data Collection Instrument (PODCI). The arsenic methylation capacity was determined by the percentages of inorganic arsenic (InAs%), monomethylarsonic acid (MMAV%), and dimethylarsinic acid (DMAV%) through liquid chromatography and hydride generation atomic absorption spectrometry. Developmental delays were significantly positively associated with the total urinary arsenic concentration, InAs%, and MMAV%, and was significantly negatively associated with DMAV% in a dose-dependent manner. MMAV% was negatively associated with the health-related quality of life (HRQOL; −1.19 to −1.46, P < 0.01) and functional performance (−0.82 to −1.14, P < 0.01), whereas DMAV% was positively associated with HRQOL (0.33–0.35, P < 0.05) and functional performance (0.21–0.39, P < 0.01–0.05) in all children and in those with developmental delays. The arsenic methylation capacity is dose-dependently associated with developmental delays and with the health status of children, particularly those with developmental delays. PMID:27853293

  16. A social skills training program for preschoolers with developmental delays. Generalization and social validity.

    PubMed

    Leblanc, L A; Matson, J L

    1995-04-01

    This investigation was designed to assess a social skills training program with 32 developmentally delayed preschoolers. Subjects were evaluated in an unstructured play session, matched for levels of appropriate and inappropriate social behaviors, and assigned to either a treatment or control condition. The treatment group (N = 16) was presented with a 6-week protocol involving positive reinforcement, modeling, rehearsal, feedback, and time out. Controls (N = 16) received no instruction beyond regular classroom activities during the 6 weeks. The two groups were reevaluated in a posttest session and again in a generalization setting where two peers with developmental delays (not included in either experimental condition) were included. Prosocial behaviors were successfully taught and maintained in generalization settings. Efforts to reduce inappropriate behaviors were less successful. A test of social validity via teachers' ratings of videotapes of pretest and posttest assessments was also conducted. Implications for generalization and social validity research are discussed.

  17. Developmental delay and behavioral disorders in 59 HIV-exposed uninfected infants

    PubMed Central

    Brunet-Cartier, Cécile; Launay, Elise; Raffi, François

    2017-01-01

    Background Antiretroviral therapy (ART) in HIV pregnant women has led to a dramatic decrease in the rate of HIV mother-to-child transmission but this benefit is counterbalanced with adverse effects related to in utero and neonatal exposure to ART. In 2013, some parents described neurodevelopmental disorders in their children. Methods A standardized letter was sent to the 133 women who delivered in Nantes hospital from 01/01/2003 to 31/12/2012 (167 births). Results Response rate was 33%. Over a 10-year period, 7 children had behavioral disorders and/or cognitive/developmental delay, 1 child had developmental delay + growth retardation and 2 experienced cancer. Conclusions We found a significant association between neurodevelopmental disorders, preterm birth and exposure to 3 nucleoside reverse transcriptase inhibitors (NRTIs). Further studies are needed and long-term follow-up into adulthood should continue. PMID:28164027

  18. Toilet Training Children With Autism and Developmental Delays: An Effective Program for School Settings

    PubMed Central

    Cocchiola, Michael A.; Martino, Gayle M.; Dwyer, Lisa J.; Demezzo, Kelly

    2012-01-01

    Current research literature on toilet training for children with autism or developmental delays focuses on smaller case studies, typically with concentrated clinical support. Limited research exists to support an effective school-based program to teach toileting skills implemented by public school staff. We describe an intervention program to toilet train 5 children with autism or developmental delays who demonstrated no prior success in the home or school setting. Intervention focused on (a) removal of diapers during school hours, (b) scheduled time intervals for bathroom visits, (c) a maximum of 3 min sitting on the toilet, (d) reinforcers delivered immediately contingent on urination in the toilet, and (e) gradually increased time intervals between bathroom visits as each participant met mastery during the preceding, shorter time interval. The program was effective across all 5 cases in a community-based elementary school. Paraprofessional staff implemented the program with minimal clinical oversight. PMID:23730467

  19. Evaluating pain induced by venipuncture in pediatric patients with developmental delay.

    PubMed

    Benini, Franca; Trapanotto, Manuela; Gobber, Daniela; Agosto, Caterina; Carli, Giovanna; Drigo, Paola; Eland, Jo; Zacchello, Franco

    2004-01-01

    Little attention has been paid to the assessment of pain in children with developmental delay. The aim of this study was to explore several methods for assessing pain during venipuncture in this population of children, using classic and modified scales to evaluate the children's response to simplified tools. Sixteen children with mild or moderate developmental delay were evaluated using three standard self-rating scales (Visual Analog Scale [VAS], Eland Scale, and Faces Scale) and three modified methods (Cube Test, Modified Eland Scale, and Modified Faces Scale), recording subjective self-ratings and behavioral expressions of pain during a venipuncture procedure, apart from the initial fear. The children's pain and reaction time were assessed by an outside observer, while their pain and fear were also evaluated by the parents. The VAS was used without difficulty by all the children and revealed a good consistency with the Cube Test. The parents' and neutral observer's indirect pain assessment was also consistent with the child's evaluations. The Eland Scale proved difficult to use, especially for Down's syndrome children, while its modified version was easier. Results emerging from the original and modified Faces Scales were inconsistent. Frightened children attributed higher pain scores, demonstrating that negative emotions exacerbate the experience of pain in developmentally delayed children. The patients showed a limited capacity for verbal and behavioral expression in reaction to the painful stimulus (especially the Down's cases). These findings support the conviction that even developmentally delayed children can use self-rating methods effectively. This sector demands further, more extensive study, including the development of simplified tools, to ensure an adequate pain assessment and optimal antalgic approach to this particular pediatric population.

  20. Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

    PubMed Central

    Belligni, Elga F; Biamino, Elisa; Molinatto, Cristina; Messa, Jole; Pierluigi, Mauro; Faravelli, Francesca; Zuffardi, Orsetta; Ferrero, Giovanni B; Silengo, Margherita Cirillo

    2009-01-01

    Background Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases. Methods We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ascertained by developmental delay or intellectual disability, associated with congenital malformations, and/or facial dysmorphisms. Results Ten cryptic chromosomal anomalies have been identified in the whole cohort (13,16%), 8 in the group of patients characterized by developmental delay or intellectual disability associated with congenital malformations and facial dysmorphisms, 2 in patients with developmental delay or intellectual disability and facial dysmorphisms only. Conclusion We demonstrate that a careful clinical examination is a very useful tool for pre-selection of patients for genomic analysis, clearly enhancing the chromosomal anomaly detection rate. Clinical features of most of these patients are consistent with the corresponding emerging chromosome phenotypes, pointing out these new clinical syndromes associated with specific genomic imbalances. PMID:19490664

  1. Identification of Novel FMR1 Variants by Massively Parallel Sequencing in Developmentally Delayed Males

    PubMed Central

    Collins, Stephen C.; Bray, Steven M.; Suhl, Joshua A.; Cutler, David J.; Coffee, Bradford; Zwick, Michael E.; Warren, Stephen T.

    2010-01-01

    Fragile X syndrome (FXS), the most common inherited form of developmental delay, is typically caused by CGG-repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1. Through the use of pooled-template massively parallel sequencing, we identified 130 novel FMR1 sequence variants in a population of 963 developmentally delayed males without CGG-repeat expansion mutations. Among these, we identified a novel missense change, p.R138Q, which alters a conserved residue in the nuclear localization signal of FMRP. We have also identified three promoter mutations in this population, all of which significantly reduce in vitro levels of FMR1 transcription. Additionally, we identified 10 noncoding variants of possible functional significance in the introns and 3’-untranslated region of FMR1, including two predicted splice site mutations. These findings greatly expand the catalogue of known FMR1 sequence variants and suggest that FMR1 sequence variants may represent an important cause of developmental delay. PMID:20799337

  2. Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

    PubMed

    Collins, Stephen C; Bray, Steven M; Suhl, Joshua A; Cutler, David J; Coffee, Bradford; Zwick, Michael E; Warren, Stephen T

    2010-10-01

    Fragile X syndrome (FXS), the most common inherited form of developmental delay, is typically caused by CGG-repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1. Through the use of pooled-template massively parallel sequencing, we identified 130 novel FMR1 sequence variants in a population of 963 developmentally delayed males without CGG-repeat expansion mutations. Among these, we identified a novel missense change, p.R138Q, which alters a conserved residue in the nuclear localization signal of FMRP. We have also identified three promoter mutations in this population, all of which significantly reduce in vitro levels of FMR1 transcription. Additionally, we identified 10 noncoding variants of possible functional significance in the introns and 3'-untranslated region of FMR1, including two predicted splice site mutations. These findings greatly expand the catalog of known FMR1 sequence variants and suggest that FMR1 sequence variants may represent an important cause of developmental delay. Copyright © 2010 Wiley-Liss, Inc.

  3. Randomized comparison of augmented and nonaugmented language interventions for toddlers with developmental delays and their parents.

    PubMed

    Romski, MaryAnn; Sevcik, Rose A; Adamson, Lauren B; Cheslock, Melissa; Smith, Ashlyn; Barker, R Michael; Bakeman, Roger

    2010-04-01

    This study compared the language performance of young children with developmental delays who were randomly assigned to 1 of 3 parent-coached language interventions. Differences in performance on augmented and spoken word size and use, vocabulary size, and communication interaction skills were examined. Sixty-eight toddlers with fewer than 10 spoken words were randomly assigned to augmented communication input (AC-I), augmented communication output (AC-O), or spoken communication (SC) interventions; 62 children completed the intervention. This trial assessed the children's symbolic language performance using communication measures from the language transcripts of the 18th and 24th intervention sessions and coding of target vocabulary use. All children in the AC-O and AC-I intervention groups used augmented and spoken words for the target vocabulary items, whereas children in the SC intervention produced a very small number of spoken words. Vocabulary size was substantially larger for AC-O and AC-I than for SC groups. This study found that augmented language interventions that include parent coaching have a positive communication effect on young children with developmental delays who begin with fewer than 10 spoken words. Clinical implications suggest that augmented communication does not hinder, and actually aids, speech production abilities in young children with developmental delays.

  4. Mandarin parents' evaluation of developmental status in the detection of delays.

    PubMed

    Toh, Teck-Hock; Lim, Boon-Chuan; Bujang, Mohamad Adam Bin; Haniff, Jamaiyah; Wong, See-Chang; Abdullah, Muhamad Rais

    2017-08-01

    We examined the parental perception and accuracy of the Mandarin translation of the Parents' Evaluation of Developmental Status, a screening questionnaire for parent concerns about children's various developmental skills. The questionnaire was translated into Mandarin. Upon enrollment, caregivers completed the Mandarin PEDS and answered four questions about its acceptability and usefulness, and its ease of understanding and completion. The Mandarin PEDS was independently evaluated by a pediatrician and a community nurse, and classified as high risk (≥two predictive concerns), medium risk (one predictive concern), low risk (any non-predictive concerns) or no risk (if no concern) for developmental delays. The caregivers repeated Mandarin PEDS at a 2 week interval for test-retest reliability, while the children underwent testing for accuracy using a developmental assessment test. The majority (≥85%) of the 73 caregivers perceived the Mandarin PEDS as acceptable and useful, as well as easy to understand and complete. Fifteen (20.5%) and 24 responses (33.9%) were classified as high and moderate risk, respectively. The test-retest and inter-rater reliabilities were excellent, with an intra-class correlation coefficient of 0.812 (95% CI: 0.701-0.881, P < 0.001) and a kappa value of 0.870 (P < 0.001), respectively. Mandarin PEDS was 80.0% sensitive and 83.8% specific for those in the high-risk category (adjusted OR, 64.68; 95% CI: 1.33-3,139.72; P = 0.035). Mandarin PEDS was well received by the caregivers, and was reliable and accurate in detecting developmental delays in the Mandarin-speaking subjects. We recommend it for early detection of children with developmental and behavioral problems. © 2017 Japan Pediatric Society.

  5. Developmental mechanisms for suppressing the effects of delayed release at the endbulb of Held.

    PubMed

    Yang, Hua; Xu-Friedman, Matthew A

    2010-08-25

    Delayed release of neurotransmitter, also called asynchronous release, is commonly observed at synapses, yet its influence on transmission of spike information is unknown. We examined this issue at endbulb of Held synapses, which are formed by auditory nerve fibers onto bushy cells in the cochlear nucleus. Endbulbs from CBA/CaJ mice aged P6-P49 showed prominent delayed release when driven at physiologically relevant rates. In bushy cells from mice before the onset of hearing (P6-P12), spikes were driven by delayed release up to 100 ms after presynaptic activity. However, no such spikes were observed in bushy cells from mice after the onset of hearing (>P14). Dynamic-clamp experiments indicated that delayed release can drive spikes in older bushy cells provided synchronous release is absent, suggesting that activity normally suppresses these spikes. Application of apamin or alpha-dendrotoxin revealed late spikes in older bushy cells, suggesting that postsynaptic activation of K(V)1.x and SK channels during spiking suppresses the subsequent effects of delayed release. The developmental upregulation of these potassium channels would be highly adaptive for temporally precise auditory processing. Furthermore, delayed release appeared to influence synchronous neurotransmitter release. Enhancement of delayed release using strontium was correlated with lower firing probability in current clamp and smaller synchronous EPSCs in voltage clamp. EGTA-AM had the opposite effects. These effects were consistent with delayed and synchronous release competing for a single vesicle pool. Thus delayed release apparently has negative presynaptic and postsynaptic consequences at the endbulb, which are partly mitigated by postsynaptic potassium channel expression.

  6. Iron deficiency in children with global developmental delay and autism spectrum disorder.

    PubMed

    Sidrak, Samuel; Yoong, Terence; Woolfenden, Susan

    2014-05-01

    To investigate the prevalence of and risk factors for iron deficiency in children with global developmental delay and/or autism spectrum disorder (ASD). A retrospective review was conducted of the files of children referred to community paediatric clinics in South West Sydney from May 2009 to July 2011 who were diagnosed with global developmental delay and/or ASD. Data were extracted on iron studies and potential risk factors. Data were analysed using Pearson's ÷(2) -test and Fisher's exact test. Subjects included 122 children. The prevalence of iron depletion was 2.5% (95% CI 0.5-7.0%); that of iron deficiency was 6.6% (95% CI 2.9-12.5%), and that of iron deficiency anaemia was 4.1% (95% CI 1.3-9.3%). In children with global developmental delay without ASD, the prevalence of iron depletion was 1.8% (95% CI 0-9.7%), that of iron deficiency 5.5% (95% CI 1.1-15.1%) and that of iron deficiency anaemia 5.5% (95% CI 1.1-15.1%). In children with ASD with or without global developmental delay, the prevalence of iron depletion was 3.0% (95% CI 0.4-10.4%), that of iron deficiency 7.5% (95% CI 2.5-16.6%) and that of iron deficiency anaemia 3.0% (95% CI 0.4-10.4%). Univariate analysis demonstrated three significant potential risk factors for iron depletion, iron deficiency and iron deficiency anaemia: problems sucking, swallowing or chewing (P = 0.002); poor eating behaviour (P = 0.008); and inadequate amounts of meat, chicken, eggs or fish (P = 0.002). Iron deficiency and iron deficiency anaemia were more common in this clinical sample of children with global developmental delay and/or ASD than in the general population. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  7. Developmental exposure to an environmental PCB mixture delays the propagation of electrical kindling from the amygdala.

    PubMed

    Bandara, Suren B; Sadowski, Renee N; Schantz, Susan L; Gilbert, Mary E

    2017-01-01

    Developmental PCB exposure impairs hearing and induces brainstem audiogenic seizures in adult offspring. The degree to which this enhanced susceptibility to seizure is manifest in other brain regions has not been examined. Thus, electrical kindling of the amygdala was used to evaluate the effect of developmental exposure to an environmentally relevant PCB mixture on seizure susceptibility in the rat. Female Long-Evans rats were dosed orally with 0 or 6mg/kg/day of the PCB mixture dissolved in corn oil vehicle 4 weeks prior to mating and continued through gestation and up until postnatal day (PND) 21. On PND 21, pups were weaned, and two males from each litter were randomly selected for the kindling study. As adults, the male rats were implanted bilaterally with electrodes in the basolateral amygdala. For each animal, afterdischarge (AD) thresholds in the amygdala were determined on the first day of testing followed by once daily stimulation at a standard 200μA stimulus intensity until three stage 5 generalized seizures (GS) ensued. Developmental PCB exposure did not affect the AD threshold or total cumulative AD duration, but PCB exposure did increase the latency to behavioral manifestations of seizure propagation. PCB exposed animals required significantly more stimulations to reach stage 2 seizures compared to control animals, indicating attenuated focal (amygdala) excitability. A delay in kindling progression in the amygdala stands in contrast to our previous finding of increased susceptibility to brainstem-mediated audiogenic seizures in PCB-exposed animals in response to a an intense auditory stimulus. These seemingly divergent results are not unexpected given the distinct source, type, and mechanistic underpinnings of these different seizure models. A delay in epileptogenesis following focal amygdala stimulation may reflect a decrease in neuroplasticity following developmental PCB exposure consistent with reductions in use-dependent synaptic plasticity that

  8. Children with Developmental Language Delay at 24 Months of Age: Results of a Diagnostic Work-Up

    ERIC Educational Resources Information Center

    Buschmann, Anke; Jooss, Bettina; Rupp, Andre; Dockter, Sonja; Blaschtikowitz, Heike; Heggen, Iris; Pietz, Joachim

    2008-01-01

    The aim of this study was to evaluate if a diagnostic work-up should be recommended for 2-year-old children with developmental language delay (LD), or if the widely chosen "wait and see" strategy is adequate. Children with LD were identified in paediatric practices during routine developmental check-ups using a German parent-report…

  9. Optimism and positive and negative feelings in parents of young children with developmental delay.

    PubMed

    Kurtz-Nelson, E; McIntyre, L L

    2017-07-01

    Parents' positive and negative feelings about their young children influence both parenting behaviour and child problem behaviour. Research has not previously examined factors that contribute to positive and negative feelings in parents of young children with developmental delay (DD). The present study sought to examine whether optimism, a known protective factor for parents of children with DD, was predictive of positive and negative feelings for these parents. Data were collected from 119 parents of preschool-aged children with developmental delay. Two separate hierarchical linear regression analyses were conducted to determine if optimism significantly predicted positive feelings and negative feelings and whether optimism moderated relations between parenting stress and parent feelings. Increased optimism was found to predict increased positive feelings and decreased negative feelings after controlling for child problem behaviour and parenting stress. In addition, optimism was found to moderate the relation between parenting stress and positive feelings. Results suggest that optimism may impact how parents perceive their children with DD. Future research should examine how positive and negative feelings impact positive parenting behaviour and the trajectory of problem behaviour specifically for children with DD. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  10. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

    PubMed

    Goldstein, Jessica H R; Tim-Aroon, Thipwimol; Shieh, Joseph; Merrill, Michelle; Deeb, Kristin K; Zhang, Shulin; Bass, Nancy E; Bedoyan, Jirair K

    2015-10-01

    Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited genetic multisystem developmental condition with considerable phenotypic and allelic heterogeneity. Missense and in-frame deletions within the SMC1A gene can be associated with epilepsy and milder craniofacial features. We report two females who presented with developmental delay and developed isolated medically refractory seizures with unrevealing initial laboratory, imaging and genetic evaluations. Whole exome sequencing (WES) analyses were performed and were instrumental in uncovering the genetic etiology for their conditions. WES identified two novel de novo heterozygous frameshift mutations in the SMC1A gene [c.2853_2856delTCAG (p.Ser951Argfs*12) and c.3549_3552dupGGCC (p.Ile1185Glyfs*23)]. We also observed marked skewing of X-inactivation in one patient. The individual with the p.Ser951Argfs*12 mutation represents an extreme on the CdLS phenotypic spectrum, with prominent neurological involvement of severe developmental delay and refractory epilepsy, with mild craniofacial features. Both individuals eventually had incomplete clinical responses to therapy with valproic acid. We review previous reports of SMC1A mutations with epilepsy. SMC1A should be included in clinical gene panels for early infantile and early childhood epileptic encephalopathy. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  11. Peripheral Innervation in Children With Global Developmental Delay: Biomarker for Risk for Self-Injurious Behavior?

    PubMed

    Symons, Frank J; Tervo, Raymond C; Barney, Chantel C; Damerow, John; Selim, Mona; McAdams, Brian; Foster, Shawn; Wendelschafer Crabb, Gwen; Kennedy, William

    2015-11-01

    The relation between somatosensory mechanisms and self-injury among children with neurologic impairments associated with developmental delay is not well understood. We evaluated the feasibility of procuring skin biopsies to examine epidermal nerve fiber density and reported self-injury. Following informed parental consent, epidermal skin biopsies were obtained from a distal leg site with no pre-existing skin damage from 11 children with global developmental delay (55% male; mean age = 36.8 months, 17-63 months). Visual microscopic examination and quantitative analyses showed extremely high epidermal nerve fiber density values for some children. Children with reported self-injury (5/11) had significantly (P < .02) greater density values (138.8, standard deviation = 45.5) than children without self-injury (80.5, standard deviation = 17.5). Results from this novel immunohistologic analysis of skin in very young children with neurodevelopmental delays suggest it may be a useful tool to study peripheral innervation as a possible sensory risk factor for self-injury.

  12. Relation of polymorphism of arsenic metabolism genes to arsenic methylation capacity and developmental delay in preschool children in Taiwan.

    PubMed

    Hsieh, Ru-Lan; Su, Chien-Tien; Shiue, Horng-Sheng; Chen, Wei-Jen; Huang, Shiau-Rung; Lin, Ying-Chin; Lin, Ming-I; Mu, Shu-Chi; Chen, Ray-Jade; Hsueh, Yu-Mei

    2017-04-15

    Inefficient arsenic methylation capacity has been associated with developmental delay in children. The present study was designed to explore whether polymorphisms and haplotypes of arsenic methyltransferase (AS3MT), glutathione-S-transferase omegas (GSTOs), and purine nucleoside phosphorylase (PNP) affect arsenic methylation capacity and developmental delay. A case-control study was conducted from August 2010 to March 2014. All participants were recruited from the Shin Kong Wu Ho-Su Memorial Teaching Hospital. In total, 179 children with developmental delay and 88 children without delay were recruited. Urinary arsenic species, including arsenite (As(III)), arsenate (As(V)), monomethylarsonic acid (MMA(V)), and dimethylarsinic acid (DMA(V)) were measured using a high-performance liquid chromatography-linked hydride generator and atomic absorption spectrometry. The polymorphisms of AS3MT, GSTO, and PNP were performed using the Sequenom MassARRAY platform with iPLEX Gold chemistry. Polymorphisms of AS3MT genes were found to affect susceptibility to developmental delay in children, but GSTO and PNP polymorphisms were not. Participants with AS3MT rs3740392 A/G+G/G genotype, compared with AS3MT rs3740392 A/A genotype, had a significantly lower secondary methylation index. This may result in an increased OR for developmental delay. Participants with the AS3MT high-risk haplotype had a significantly higher OR than those with AS3MT low-risk haplotypes [OR and 95% CI, 1.59 (1.08-2.34)]. This is the first study to show a joint dose-response effect of this AS3MT high-risk haplotype and inefficient arsenic methylation capacity on developmental delay. Our data provide evidence that AS3MT genes are related to developmental delay and may partially influence arsenic methylation capacity. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Early augmented language intervention for children with developmental delays: potential secondary motor outcomes.

    PubMed

    Whitmore, Ani S; Romski, Mary Ann; Sevcik, Rose A

    2014-09-01

    This exploratory study examined the potential secondary outcome of an early augmented language intervention that incorporates speech-generating devices (SGD) on motor skill use for children with developmental delays. The data presented are from a longitudinal study by Romski and colleagues. Toddlers in the augmented language interventions were either required (Augmented Communication-Output; AC-O) or not required (Augmented Communication-Input; AC-I) to use the SGD to produce an augmented word. Three standardized assessments and five event-based coding schemes measured the participants' language abilities and motor skills. Toddlers in the AC-O intervention used more developmentally appropriate motor movements and became more accurate when using the SGD to communicate than toddlers in the AC-I intervention. AAC strategies, interventionist/parent support, motor learning opportunities, and physical feedback may all contribute to this secondary benefit of AAC interventions that use devices.

  14. Social determinants of state variation in special education participation among preschoolers with developmental delays and disabilities.

    PubMed

    McManus, Beth M; Carle, Adam C; Acevedo-Garcia, Dolores; Ganz, Michael; Hauser-Cram, Penny; McCormick, Marie C

    2011-03-01

    Children with developmental disabilities are at risk for secondary complications and lower academic performance, which contributes to lower health and well-being and may be ameliorated by access to special education services. This paper examines state variability in preschool special education participation among a United States population-based cohort with parent-reported developmental delays and disabilities. Analyses explore the extent to which observed variability can be explained by state socio-economic attributes and special education policy and funding. Rates of special education varied significantly across states and were highest in states with least income inequality and lowest in states with most income inequality. Place variation in preschool special education participation stems, in part, from child characteristics, but to a larger extent, from state socio-economic attributes.

  15. Proximal trisomy 1q in a girl with developmental delay and minor anomalies

    SciTech Connect

    Furforo, L. |; Rittler, M.; Slavutsky, I.R.

    1996-09-06

    We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12{r_arrow}q21.3). This abnormality was suggested by G-and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication. 12 refs., 4 figs., 1 tab.

  16. Oddity learning in developmentally delayed children: facilitation by means of familiar stimuli.

    PubMed

    Bryant, J T; Deckner, C W; Soraci, S A; Baumeister, A A; Blanton, R L

    1988-09-01

    Four of 8 low-functioning, developmentally delayed children initially failed to demonstrate oddity responding under conditions in which ostensibly similar children did show oddity responding (e.g., Soraci et al., 1987). In the context of a multiple baseline across-subjects design, each of the 4 previously unsuccessful children demonstrated statistically significant increases in the percentage of correct oddity responses immediately upon introduction of familiar stimuli. These results indicate that perceptual differentiation enhances relational learning of the type required by the oddity task.

  17. A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly

    PubMed Central

    Morisada, Naoya; Ioroi, Tomoaki; Taniguchi-Ikeda, Mariko; Juan Ye, Ming; Okamoto, Nobuhiko; Yamamoto, Toshiyuki; Iijima, Kazumoto

    2016-01-01

    N-methyl D-aspartate receptor subtype 2B (GluN2B), encoded by GRIN2B, is one of the components of the N-methyl D-aspartate receptor protein. Aberrations in GRIN2B have been reported to be responsible for various types of neurodevelopmental disorders. We report a Japanese boy with an ~2 Mb interstitial deletion in 12p13 involving the entire GRIN2B gene, who presented with intellectual disability, motor developmental delay and marked macrocephaly. PMID:27656287

  18. Incidental finding of an orbital foreign body in a child with microcephaly and developmental delay

    PubMed Central

    Hall, Maria J; Thomas, Megan R; Shekarchian, Mina; Patel, Vikesh

    2014-01-01

    A 3-year-old boy underwent investigations for microcephaly and global developmental delay. An MRI scan identified an ill-defined enhancing lesion in the left superolateral orbit. On subsequent questioning his parents reported that he had been admitted to a neighbouring hospital 2 months earlier with left-sided preseptal cellulitis following a fall onto a plastic toy. Following the episode of cellulitis he developed intermittent mild erythema and oedema of the left upper eyelid for which his parents had not sought further medical attention. The child was admitted for an anterior orbitotomy via a skin-crease approach that identified a large foam plastic foreign body. He made a good recovery from his surgery although he has had intermittent upper eyelid oedema attributed to a persistent granulomatous foreign body reaction. No underlying cause for his microcephaly and delayed development has yet been identified. PMID:24554678

  19. Developmental delays in offspring of rats undernourished or zinc deprived during lactation.

    PubMed

    Eberhardt, M J; Halas, E S

    1987-01-01

    Offspring of rats who were zinc or calorie deprived during lactation were administered a battery of reflex and motor tests from postnatal Day 4 to Day 21. Compared to offspring of ad lib-fed control rats, both zinc deprived and undernourished offspring exhibited developmental delays in reflexes which appeared after the first postnatal week (auditory startle, air righting, and rope descent). As the deficiencies continued the delays appeared to be more pronounced. The zinc deficiency did not add to the deficits associated with calorie restriction alone because there were no significant differences between the zinc deficient and undernourished pups on any of the measures except eye opening. When rehabilitated offspring were tested at 45 and 60 days of age for motor deficits there were no significant impairments resulting from preweaning dietary conditions. However, the growth retardation of zinc deprived and undernourished rats persisted long after dietary rehabilitation was implemented.

  20. Early Language Patterns of Toddlers on the Autism Spectrum Compared to Toddlers with Developmental Delay

    PubMed Central

    Lord, Catherine; Esler, Amy

    2010-01-01

    This study characterized early language abilities in toddlers with autism spectrum disorders (n = 257) using multiple measures of language development, compared to toddlers with non-spectrum developmental delay (DD, n = 69). Findings indicated moderate to high degrees of agreement among three assessment measures (one parent report and two direct assessment measures). Performance on two of the three measures revealed a significant difference in the profile of receptive–expressive language abilities for toddlers with autism compared to the DD group, such that toddlers with autism had relatively more severe receptive than expressive language delays. Regression analyses examining concurrent predictors of language abilities revealed both similarities in significant predictors (nonverbal cognition) and differences (frequency of vocalization, imitation) across the diagnostic groups. PMID:20195735

  1. Early language patterns of toddlers on the autism spectrum compared to toddlers with developmental delay.

    PubMed

    Ellis Weismer, Susan; Lord, Catherine; Esler, Amy

    2010-10-01

    This study characterized early language abilities in toddlers with autism spectrum disorders (n = 257) using multiple measures of language development, compared to toddlers with non-spectrum developmental delay (DD, n = 69). Findings indicated moderate to high degrees of agreement among three assessment measures (one parent report and two direct assessment measures). Performance on two of the three measures revealed a significant difference in the profile of receptive-expressive language abilities for toddlers with autism compared to the DD group, such that toddlers with autism had relatively more severe receptive than expressive language delays. Regression analyses examining concurrent predictors of language abilities revealed both similarities in significant predictors (nonverbal cognition) and differences (frequency of vocalization, imitation) across the diagnostic groups.

  2. Emotion Discourse, Social Cognition, and Social Skills in Children with and without Developmental Delays

    PubMed Central

    Fenning, RM; Baker, BL; Juvonen, J

    2009-01-01

    This study examined parent-child emotion discourse, children’s independent social information processing, and social skills outcomes in 146 families of 8-year-olds with and without developmental delays. Children’s emergent social-cognitive understanding (internal state understanding, perspective taking, and causal reasoning/problem solving) was coded in the context of parent-child conversations about emotion, and children were interviewed separately to assess social problem solving. Mothers, fathers, and teachers reported on children’s social skills. The proposed strengths-based model partially accounted for social skills differences between typically developing children and children with delays. A multigroup analysis of the model linking emotion discourse to social skills through children’s prosocial problem solving suggested that processes operated similarly across the two groups. Implications for ecologically focused prevention and intervention are discussed. PMID:21410465

  3. Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

    PubMed Central

    Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández

    2014-01-01

    The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with facial dysmorphism. It was first described in 1978 in patients with mental retardation and crisis of intermittent hyperventilation. The genetic cause is haploinsufficiency of the TCF4 (transcription factor 4) gene that affects the neurodevelopment in both sexes; the majority of patients have spontaneous molecular defects by point mutations or deletions in chromosome 18 at the region 18q21. The syndrome is characterized by neurological abnormalities that affect the motor coordination and balance, in patients with mental and developmental delays. The phenotype includes a peculiar face by specific craniofacial anomalies: prominent square forehead, deep-set eyes with ocular hypertelorism; prominent large nose beaked and broad flat nasal bridge; mouth wide and large, thick fleshy lips, tented bow-shaped upper lip and everted lower lip; cup-shaped ears with dysplastic broad overfolded helix. We review the literature and the photographs of 44 published patients from 2007 to 2012, to resume the principal features of craniofacial anomalies, attempting to delineate the syndrome phenotype and score the specific dysmorphism than help to achieve the early clinical diagnosis. PMID:27625870

  4. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

    PubMed

    Volpi, Stefano; Yamazaki, Yasuhiro; Brauer, Patrick M; van Rooijen, Ellen; Hayashida, Atsuko; Slavotinek, Anne; Sun Kuehn, Hye; Di Rocco, Maja; Rivolta, Carlo; Bortolomai, Ileana; Du, Likun; Felgentreff, Kerstin; Ott de Bruin, Lisa; Hayashida, Kazutaka; Freedman, George; Marcovecchio, Genni Enza; Capuder, Kelly; Rath, Prisni; Luche, Nicole; Hagedorn, Elliott J; Buoncompagni, Antonella; Royer-Bertrand, Beryl; Giliani, Silvia; Poliani, Pietro Luigi; Imberti, Luisa; Dobbs, Kerry; Poulain, Fabienne E; Martini, Alberto; Manis, John; Linhardt, Robert J; Bosticardo, Marita; Rosenzweig, Sergio Damian; Lee, Hane; Puck, Jennifer M; Zúñiga-Pflücker, Juan Carlos; Zon, Leonard; Park, Pyong Woo; Superti-Furga, Andrea; Notarangelo, Luigi D

    2017-03-06

    We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition and altered fibroblast growth factor 2 signaling, which was rescued by overexpression of wild-type EXTL3 cDNA. Interleukin-2-mediated STAT5 phosphorylation in patients' lymphocytes was markedly reduced. Interbreeding of the extl3-mutant zebrafish (box) with Tg(rag2:green fluorescent protein) transgenic zebrafish revealed defective thymopoiesis, which was rescued by injection of wild-type human EXTL3 RNA. Targeted differentiation of patient-derived induced pluripotent stem cells showed a reduced expansion of lymphohematopoietic progenitor cells and defects of thymic epithelial progenitor cell differentiation. These data identify EXTL3 mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development.

  5. Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism.

    PubMed

    Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández

    2014-09-01

    The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with facial dysmorphism. It was first described in 1978 in patients with mental retardation and crisis of intermittent hyperventilation. The genetic cause is haploinsufficiency of the TCF4 (transcription factor 4) gene that affects the neurodevelopment in both sexes; the majority of patients have spontaneous molecular defects by point mutations or deletions in chromosome 18 at the region 18q21. The syndrome is characterized by neurological abnormalities that affect the motor coordination and balance, in patients with mental and developmental delays. The phenotype includes a peculiar face by specific craniofacial anomalies: prominent square forehead, deep-set eyes with ocular hypertelorism; prominent large nose beaked and broad flat nasal bridge; mouth wide and large, thick fleshy lips, tented bow-shaped upper lip and everted lower lip; cup-shaped ears with dysplastic broad overfolded helix. We review the literature and the photographs of 44 published patients from 2007 to 2012, to resume the principal features of craniofacial anomalies, attempting to delineate the syndrome phenotype and score the specific dysmorphism than help to achieve the early clinical diagnosis.

  6. Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

    PubMed Central

    Seo, Go Hun; Kim, Ja Hye; Cho, Ja Hyang; Kim, Gu-Hwan; Seo, Eul-Ju; Lee, Beom Hee; Choi, Jin-Ho

    2016-01-01

    Purpose The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care. PMID:26893599

  7. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

    PubMed Central

    Saitsu, Hirotomo; Fukai, Ryoko; Ben-Zeev, Bruria; Sakai, Yasunari; Mimaki, Masakazu; Okamoto, Nobuhiko; Suzuki, Yasuhiro; Monden, Yukifumi; Saito, Hiroshi; Tziperman, Barak; Torio, Michiko; Akamine, Satoshi; Takahashi, Nagahisa; Osaka, Hitoshi; Yamagata, Takanori; Nakamura, Kazuyuki; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Shiina, Masaaki; Ogata, Kazuhiro; Matsumoto, Naomichi

    2016-01-01

    De novo GNAO1 variants have been found in four patients including three patients with Ohtahara syndrome and one patient with childhood epilepsy. In addition, two patients showed involuntary movements, suggesting that GNAO1 variants can cause various neurological phenotypes. Here we report an additional four patients with de novo missense GNAO1 variants, one of which was identical to that of the previously reported. All the three novel variants were predicted to impair Gαo function by structural evaluation. Two patients showed early-onset epileptic encephalopathy, presenting with migrating or multifocal partial seizures in their clinical course, but the remaining two patients showed no or a few seizures. All the four patients showed severe intellectual disability, motor developmental delay, and involuntary movements. Progressive cerebral atrophy and thin corpus callosum were common features in brain images. Our study demonstrated that GNAO1 variants can cause involuntary movements and severe developmental delay with/without seizures, including various types of early-onset epileptic encephalopathy. PMID:25966631

  8. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

    PubMed

    Labonne, Jonathan D J; Vogt, Julie; Reali, Lisa; Kong, Il-Keun; Layman, Lawrence C; Kim, Hyung-Goo

    2015-12-01

    In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2. The PSS-associated genes EXT2 and ALX4, together with PHF21A, all map to this region flanked by markers D11S1393 and D11S1319. Being proximal to EXT2 and ALX4, a 1.1 Mb region containing 12 annotated genes had been identified by deletion mapping to explain PSS phenotypes except multiple exostoses and parietal foramina. Here, we report a male patient with partial PSS phenotypes including global developmental delay, craniofacial anomalies, minor limb anomalies, and micropenis. Using microarray, qPCR, RT-qPCR, and Western blot analyses, we refined the candidate gene region, which harbors five genes, by excluding two genes, SLC35C1 and CRY2, which resulted in a corroborating role of PHF21A in developmental delay and craniofacial anomalies. This microdeletion contains the least number of genes at 11p11.2 reported to date. Additionally, we also discuss the phenotypes observed in our patient with respect to those of published cases of microdeletions across the Potocki-Shaffer interval.

  9. Risk factors for suspected developmental delay at age 2 years in a Brazilian birth cohort

    PubMed Central

    de Moura, Danilo R; Costa, Jaderson C; Santos, Iná S; Barros, Aluísio J D; Matijasevich, Alicia; Halpern, Ricardo; Dumith, Samuel; Karam, Simone; Barros, Fernando C

    2010-01-01

    de Moura DR, Costa JC, Santos IS, Barros AJD, Matijasevich A, Halpern R, Dumith S, Karam S, Barros FC. Risk factors for suspected developmental delay at age 2 years in a Brazilian birth cohort. Paediatric and Perinatal Epidemiology 2010; 24: 211–221. Many children are at risk of not achieving their full potential for development. Epidemiological studies have the advantage of being able to identify a number of associated factors potentially amenable to intervention. Our purpose was to identify risk factors for suspected developmental delay (SDD) at age 2 years among all children born in the city of Pelotas, Brazil, in 2004. This study was part of the 2004 Pelotas Birth Cohort. The Battelle Screening Developmental Inventory (BSDI) was administered to cohort children at age 2 years. A hierarchical model of determination for SDD with confounder adjustment was built including maternal sociodemographic, reproductive and gestational characteristics, as well as child and environmental characteristics. Multivariable analysis was carried out using Poisson regression. Prevalence ratios (PR) and 95% confidence intervals [95% CI] were calculated. In the results, 3.3% of the 3869 children studied screened positive for SDD. After confounder control, children more likely to show SDD were: those with positive BSDI at age 12 months (PR = 5.51 [3.59, 8.47]); with 5-min Apgar <7 (PR = 3.52 [1.70, 7.27]); with mothers who had <4 years of schooling (PR = 3.35 [1.98, 5.66]); from social classes D and E (PR = 3.00 [1.45, 6.19]); with a history of gestational diabetes (PR = 2.77 [1.34, 5.75]); born <24 months after the last sibling (PR = 2.46 [1.42, 4.27]); were not told child stories in the preceding week (PR 2.28 [1.43, 3.63]); did not have children's literature at home (PR = 2.08 [1.27, 3.39]); with low birthweight (PR = 1.75 [1.00, 3.07]); were born preterm (PR = 1.74 [1.07, 2.81]); with <6 antenatal care appointments (PR = 1.70 [1.07, 2.68]); with history of hospitalisation (PR = 1

  10. Developmental aspects of delayed matching-to-sample task performance in children.

    PubMed

    Chelonis, J J; Daniels-Shaw, J L; Blake, D J; Paule, M G

    2000-01-01

    The influence of age, sex, and intelligence (IQ) on performance of a delayed matching-to-sample (DMTS) task, commonly used with animals and adult human subjects to study aspects of short-term memory, was examined for 674 children, 5 to 13 years old. The data suggest that younger children were less accurate at short delays and displayed a greater decrease in accuracy as recall delay increased than older children. Children with lower IQs demonstrated consistent impairment in recall of information when compared to children with higher IQs. No significant differences in task performance were observed between boys and girls. These normative data provide insights into the developmental time course of behaviors thought to serve as metrics of short-term memory. These data will be critical for ongoing and future studies in determining whether specific clinical diagnoses, drug treatments, or other risk factors (e.g., perinatal drug exposure, pregnancy complications, exposure to toxicants) are associated with differences on specific aspects of task performance. The use of tasks that are also applicable to animal models provides great opportunities for the conduct of important comparative studies.

  11. Cognitive outcomes and familial stress after cochlear implantation in deaf children with and without developmental delays.

    PubMed

    Oghalai, John S; Caudle, Susan E; Bentley, Barbara; Abaya, Homer; Lin, Jerry; Baker, Dian; Emery, Claudia; Bortfeld, Heather; Winzelberg, Jody

    2012-08-01

    The benefits of cochlear implantation for children with developmental delays (DD) often are unclear. We compared cognition, adaptive behavior, familial stress, and communication in children with and without DD. Retrospective review. Two tertiary care pediatric hospitals. Two hundred four children who underwent cochlear implantation assessed before and more than 1 year after implantation. The Mullen Scales of Early Learning (MSEL), vineland adaptive behavior scales (VABS), Parental Stress Index, and Preschool Language Scale. We developed a specific definition of DD for hearing-impaired children based upon diagnostic and statistical manual of mental disorders, fourth edition, criteria for mental retardation; 60 children met the criteria for DD, and 144 children did not. Before implantation, multiple linear regression demonstrated that children with DD had lower scores in every domain of the MSEL and VABS (p < 0.05), but no differences in any domains of the parental stress index and preschool language scale (p > 0.1) compared with children without DD. After implantation, children without DD demonstrated significant improvements in intelligence as measured by the MSEL and age-appropriate improvements in adaptive behavior as evaluated by the VABS, and their familial stress levels were not increased after cochlear implantation. In contrast, children with DD underwent implantation at a later age and demonstrated less comprehensive developmental improvements after cochlear implantation and higher stress levels. However, when the age differences were taken into account using multiple linear regression analyses, the differences between the 2 cohorts were reduced. These data indicate that our definition of DD is a reliable method of stratifying deaf children. Although children with DD have a normal developmental rate of adaptive behavior after cochlear implantation, their developmental rate of intelligence is lower, and they have higher stress levels than children without DD

  12. Cognitive outcomes and familial stress after cochlear implantation in deaf children with and without developmental delays

    PubMed Central

    Oghalai, John S.; Caudle, Susan E.; Bentley, Barbara; Abaya, Homer; Lin, Jerry; Baker, Dian; Emery, Claudia; Bortfeld, Heather; Winzelberg, Jody

    2012-01-01

    Objective The benefits of cochlear implantation for children with developmental delays (DD) are often unclear. We compared cognition, adaptive behavior, familial stress, and communication in children with and without DD. Study Design Retrospective review Setting Two tertiary care pediatric hospitals Patients 204 children who underwent cochlear implantation assessed before and >1 year after implantation Main Outcome Measures The Mullen Scales of Early Learning (MSEL), Vineland Adaptive Behavior Scales (VABS), Parental Stress Index (PSI), and Preschool Language Scale (PLS). Results We developed a specific definition of DD for hearing-impaired children based upon DSM-IV criteria for mental retardation; 60 children met the criteria for DD and 144 children did not. Prior to implantation, multiple linear regression demonstrated that children with DD had lower scores in every domain of the MSEL and VABS (p<0.05) but no differences in any domains of the PSI and PLS (p>0.1) compared to children without DD. After implantation, children without DD demonstrated significant improvements in intelligence as measured by the MSEL, age-appropriate improvements in adaptive behavior as evaluated by the VABS, and their familial stress levels were not increased after cochlear implantation. In contrast, children with DD underwent implantation at a later age and demonstrated less comprehensive developmental improvements after cochlear implantation and higher stress levels. However, when the age differences were taken into account using multiple linear regression analyses, the differences between two cohorts were reduced. Conclusions These data indicate that our definition of DD is a reliable method of stratifying deaf children. While children with DD have a normal developmental rate of adaptive behavior after cochlear implantation, their developmental rate of intelligence is lower and they have higher stress levels than children without DD. However, our data suggest that if children with

  13. Attention problems and parent-rated behavior and stress in young children at risk for developmental delay.

    PubMed

    Tervo, Raymond C

    2010-11-01

    The aim of this article is to characterize the neurobehavior of young children at risk for developmental delay and attention problems. Two hundred and eighty-one children, ages 18 to 70 months, were evaluated. All parents/guardians completed the Child Development Inventory, Child Behavior Checklist for Ages 1½ to 5, Inventory for Client and Agency Planning, and Parenting Stress Index-Short Form. All children had significant delays (developmental ratios <.70). A Mann-Whitney U test compared those with and without attention problems (T score >70). A 2-tailed P value of <.05 indicated statistical significance. Children with attention problems were more likely to have withdrawn behavior, sleep problems, and aggressive behavior. All had severe problem behaviors, and their families experienced significant stress. Attention problems and other serious problem behaviors occur frequently in young children at risk for developmental delay. Parental stress warrants prompt intervention for their children and positive supports for them.

  14. Developmentally Delayed Male with Mincer Blade Obstructing the Oesophagus for a Period of Time Suspected to Be 6 Months

    PubMed Central

    Grønhøj Larsen, Christian; Charabi, Birgitte

    2015-01-01

    Introduction. Sharp, retained foreign bodies in the oesophagus are associated with severe complications. Developmentally delayed patients are especially subject to foreign objects. We describe a 37-year-old, developmentally delayed male with a mincer blade obstructing the oesophagus. Six months prior to surgical intervention, the patient was hospitalized in a condition of sepsis and pneumonia where the thoracic X-ray reveals a foreign body in the proximal oesophagus. When rehospitalized 6 months later, a mincer blade of the type used in immersion blenders was surgically removed. During these 6 months the patient's main symptoms were dysphagia, weight loss, and diarrhoea. When developmentally delayed patients present with dysphagia, we strongly encourage the awareness of the possible presence of foreign bodies. To our knowledge this is the first reported case of a mincer blade in the oesophagus. PMID:26236532

  15. Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect

    PubMed Central

    Dauber, Andrew; Ercan, Altan; Lee, Jack; James, Philip; Jacobs, Pieter P.; Ashline, David J.; Wang, Sophie R.; Miller, Timothy; Hirschhorn, Joel N.; Nigrovic, Peter A.; Sackstein, Robert

    2014-01-01

    Leukocyte adhesion deficiency type II is a hereditary disorder of neutrophil migration caused by mutations in the guanosine diphosphate-fucose transporter gene (SLC35C1). In these patients, inability to generate key fucosylated molecules including sialyl Lewis X leads to leukocytosis and recurrent infections, in addition to short stature and developmental delay. We report two brothers with short stature and developmental delay who are compound heterozygotes for novel mutations in SLC35C1 resulting in partial in vivo defects in fucosylation. Specifically, plasma glycoproteins including immunoglobulin G demonstrated marked changes in glycoform distribution. While neutrophil rolling on endothelial selectins was partially impeded, residual adhesion proved sufficient to avoid leukocytosis or recurrent infection. These findings demonstrate a surprising degree of immune redundancy in the face of substantial alterations in adhesion molecule expression, and show that short stature and developmental delay may be the sole presenting signs in this disorder. PMID:24403049

  16. Intelligence quotient discrepancy indicates levels of motor competence in preschool children at risk for developmental delays.

    PubMed

    Yu, Tzu-Ying; Chen, Kuan-Lin; Chou, Willy; Yang, Shu-Han; Kung, Sheng-Chun; Lee, Ya-Chen; Tung, Li-Chen

    2016-01-01

    This study aimed to establish 1) whether a group difference exists in the motor competence of preschool children at risk for developmental delays with intelligence quotient discrepancy (IQD; refers to difference between verbal intelligence quotient [VIQ] and performance intelligence quotient [PIQ]) and 2) whether an association exists between IQD and motor competence. Children's motor competence and IQD were determined with the motor subtests of the Comprehensive Developmental Inventory for Infants and Toddlers and Wechsler Preschool and Primary Scale of Intelligence™ - Fourth Edition. A total of 291 children were included in three groups: NON-IQD (n=213; IQD within 1 standard deviation [SD]), VIQ>PIQ (n=39; VIQ>PIQ greater than 1 SD), and PIQ>VIQ (n=39; PIQ>VIQ greater than 1 SD). The results of one-way analysis of variance indicated significant differences among the subgroups for the "Gross and fine motor" subdomains of the Comprehensive Developmental Inventory for Infants and Toddlers, especially on the subtests of "body-movement coordination" (F=3.87, P<0.05) and "visual-motor coordination" (F=6.90, P<0.05). Motor competence was significantly worse in the VIQ>PIQ group than in the NON and PIQ>VIQ groups. Significant negative correlations between IQD and most of the motor subtests (r=0.31-0.46, P<0.01) were found only in the VIQ>PIQ group. This study demonstrates that 1) IQD indicates the level of motor competence in preschoolers at risk for developmental delays and 2) IQD is negatively associated with motor competence in preschoolers with significant VIQ>PIQ discrepancy. The first finding was that preschoolers with VIQ>PIQ discrepancy greater than 1 SD performed significantly worse on motor competence than did preschoolers without significant IQD and preschoolers with PIQ>VIQ discrepancy greater than 1 SD. However, preschoolers with significant PIQ>VIQ discrepancy performed better on motor competence than did preschoolers without significant IQD, though the

  17. Intelligence quotient discrepancy indicates levels of motor competence in preschool children at risk for developmental delays

    PubMed Central

    Yu, Tzu-Ying; Chen, Kuan-Lin; Chou, Willy; Yang, Shu-Han; Kung, Sheng-Chun; Lee, Ya-Chen; Tung, Li-Chen

    2016-01-01

    Purpose This study aimed to establish 1) whether a group difference exists in the motor competence of preschool children at risk for developmental delays with intelligence quotient discrepancy (IQD; refers to difference between verbal intelligence quotient [VIQ] and performance intelligence quotient [PIQ]) and 2) whether an association exists between IQD and motor competence. Methods Children’s motor competence and IQD were determined with the motor subtests of the Comprehensive Developmental Inventory for Infants and Toddlers and Wechsler Preschool and Primary Scale of Intelligence™ – Fourth Edition. A total of 291 children were included in three groups: NON-IQD (n=213; IQD within 1 standard deviation [SD]), VIQ>PIQ (n=39; VIQ>PIQ greater than 1 SD), and PIQ>VIQ (n=39; PIQ>VIQ greater than 1 SD). Results The results of one-way analysis of variance indicated significant differences among the subgroups for the “Gross and fine motor” subdomains of the Comprehensive Developmental Inventory for Infants and Toddlers, especially on the subtests of “body-movement coordination” (F=3.87, P<0.05) and “visual-motor coordination” (F=6.90, P<0.05). Motor competence was significantly worse in the VIQ>PIQ group than in the NON and PIQ>VIQ groups. Significant negative correlations between IQD and most of the motor subtests (r=0.31–0.46, P<0.01) were found only in the VIQ>PIQ group. Conclusion This study demonstrates that 1) IQD indicates the level of motor competence in preschoolers at risk for developmental delays and 2) IQD is negatively associated with motor competence in preschoolers with significant VIQ>PIQ discrepancy. The first finding was that preschoolers with VIQ>PIQ discrepancy greater than 1 SD performed significantly worse on motor competence than did preschoolers without significant IQD and preschoolers with PIQ>VIQ discrepancy greater than 1 SD. However, preschoolers with significant PIQ>VIQ discrepancy performed better on motor competence than

  18. High prevalence of developmental delay among children under three years of age in poverty-stricken areas of China.

    PubMed

    Wei, Q W; Zhang, J X; Scherpbier, R W; Zhao, C X; Luo, S S; Wang, X L; Guo, S F

    2015-12-01

    Poverty and its associated factors put children at risk for developmental delay. The aim of this study was to describe the neurodevelopment of children under three years of age in poverty-stricken areas of China and explore possible associated factors. A cross-sectional survey was conducted among 2837 children aged 1-35 months in poverty-stricken areas of China. Characteristics of the child, caregiver, and family were collected through face-to-face caregiver interviews. Developmental delay was explored with the five-domain, structured, parent-completed Ages and Stages Questionnaire. The Zung Self-rating Depression Scale was used to assess depressive symptoms of the caregivers. The Chi-squared test and multivariate logistic regression analyses were used to explore associated factors. Of the children, 39.7% (95% confidence interval, 37.9-41.5) had developmental delay in at least one of the five domains. For the domains of communication, gross motor, fine motor, problem solving, and personal-social skills, the prevalence was 11.5%, 18.5%, 21.4%, 18.4%, and 17.9%, respectively. Significant predictors of increased odds of developmental delay included the child having no toys (odds ratio [OR] = 2.31), the caregiver having depression (OR = 2.24), insufficient learning activities (OR = 1.65), and more children in the family (OR = 1.16). The high prevalence of developmental delay in children younger than three years in poverty-stricken areas of China and the presence of risk factors for developmental delay such as inadequate learning resources and activities in the home, caregiver depression, and low family income highlight the need for early identification and interventions. Copyright © 2015 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

  19. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

    PubMed Central

    Tanaka, Akemi J.; Cho, Megan T.; Retterer, Kyle; Jones, Julie R.; Nowak, Catherine; Douglas, Jessica; Jiang, Yong-Hui; McConkie-Rosell, Allyn; Schaefer, G. Bradley; Kaylor, Julie; Rahman, Omar A.; Telegrafi, Aida; Friedman, Bethany; Douglas, Ganka; Monaghan, Kristin G.; Chung, Wendy K.

    2016-01-01

    We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features and frequent microcephaly, and de novo predicted loss-of-function variants in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). Our findings are consistent with recently reported de novo mutations in CHAMP1 in five other individuals with similar features. CHAMP1 is a zinc finger protein involved in kinetochore–microtubule attachment and is required for regulating the proper alignment of chromosomes during metaphase in mitosis. Mutations in CHAMP1 may affect cell division and hence brain development and function, resulting in developmental delay and ID. PMID:27148580

  20. Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

    PubMed

    Kim, Myungjin; Sandford, Erin; Gatica, Damian; Qiu, Yu; Liu, Xu; Zheng, Yumei; Schulman, Brenda A; Xu, Jishu; Semple, Ian; Ro, Seung-Hyun; Kim, Boyoung; Mavioglu, R Nehir; Tolun, Aslıhan; Jipa, Andras; Takats, Szabolcs; Karpati, Manuela; Li, Jun Z; Yapici, Zuhal; Juhasz, Gabor; Lee, Jun Hee; Klionsky, Daniel J; Burmeister, Margit

    2016-01-26

    Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (ATG) genes have been reported in human patients to date. We identified a homozygous missense mutation, changing a conserved amino acid, in ATG5 in two siblings with congenital ataxia, mental retardation, and developmental delay. The subjects' cells display a decrease in autophagy flux and defects in conjugation of ATG12 to ATG5. The homologous mutation in yeast demonstrates a 30-50% reduction of induced autophagy. Flies in which Atg5 is substituted with the mutant human ATG5 exhibit severe movement disorder, in contrast to flies expressing the wild-type human protein. Our results demonstrate the critical role of autophagy in preventing neurological diseases and maintaining neuronal health.

  1. FRAXE expansion is not a common etiological factor among developmentally delayed males

    SciTech Connect

    Allingham-Hawkins, D.J.; Ray, P.N.

    1995-07-01

    Expansion of a (CGG){sub n} trinucleotide repeat unit at FRAXE, a newly defined fragile site distal to FRAXA, at Xq28, is reported to be associated with mild mental retardation. Three hundred developmentally delayed male patients referred for fragile X testing but negative for the FMR-1 gene trinucleotide expansion were screened for the FRAXE expansion. This group of patients had a wide range of intellectual or behavioral problems and included 19 patients who has low-level fragile site expression detected cytogenetically at Xq27-q28. None of the patients tested positive for the FRAXE expansion. These results suggest that FRAXE is not a common etiological factor among this group of patients. The data support the hypothesis that FRAXE is either very rare or a benign fragile site that is not associated with any clinical phenotype, similar to the FRAXF and FRA16A sites. 14 refs., 4 figs.

  2. Binge consumption of ethanol during pregnancy leads to significant developmental delay of mouse embryonic brain

    NASA Astrophysics Data System (ADS)

    Sudheendran, Narendran; Bake, Shameena; Miranda, Rajesh C.; Larin, Kirill V.

    2014-03-01

    Consumption of alcohol during pregnancy can be severely detrimental to the development of the brain in fetuses. This study explores the usage of optical coherence tomography (OCT) to the study the effects of maternal consumption of ethanol on brain development in mouse fetuses. On gestational day 14.5, fetuses were collected and fixed in 4% paraformaldehyde. A swept-source OCT (SSOCT) system was used to acquire 3D images of the brain of ethanol-exposed and control fetuses. The volume of right and left brain ventricles were measured and used to compare between ethanol-exposed and control fetuses. A total of 5 fetuses were used for each of the two groups. The average volumes of the right and left ventricles were measured to be 0.35 and 0.15 mm3 for ethanol-exposed and control fetuses, respectively. The results demonstrated that there is an alcohol-induced developmental delay in mouse fetal brains.

  3. Feasibility of Mindfulness-based Stress Reduction Intervention for Parents of Children with Developmental Delays.

    PubMed

    Roberts, Lisa R; Neece, Cameron L

    2015-08-01

    Mindfulness-based stress reduction (MBSR) interventions are popular as a treatment strategy for myriad diagnoses in various settings, and may be beneficial for parents of children with developmental delays (DD). However, prior research suggests extreme levels of stress and extraordinary demands on time among these parents, making the feasibility of effectively implementing MBSR with this population questionable. This study examined the feasibility of administering standard MBSR to a diverse community-based sample of parents of young children with DD. The potential impact of MBSR interventions includes improvement in parents' mental health, and collateral benefits for the family environment, including improved child behavior. Nurses may have an integral role in interdisciplinary teams providing MBSR.

  4. During Drosophila disc regeneration, JAK/STAT coordinates cell proliferation with Dilp8-mediated developmental delay

    PubMed Central

    Katsuyama, Tomonori; Comoglio, Federico; Seimiya, Makiko; Cabuy, Erik; Paro, Renato

    2015-01-01

    Regeneration of fragmented Drosophila imaginal discs occurs in an epimorphic manner involving local cell proliferation at the wound site. After disc fragmentation, cells at the wound site activate a restoration program through wound healing, regenerative cell proliferation, and repatterning of the tissue. However, the interplay of signaling cascades driving these early reprogramming steps is not well-understood. Here, we profiled the transcriptome of regenerating cells in the early phase within 24 h after wounding. We found that JAK/STAT signaling becomes activated at the wound site and promotes regenerative cell proliferation in cooperation with Wingless (Wg) signaling. In addition, we showed that the expression of Drosophila insulin-like peptide 8 (dilp8), which encodes a paracrine peptide to delay the onset of pupariation, is controlled by JAK/STAT signaling in early regenerating discs. Our findings suggest that JAK/STAT signaling plays a pivotal role in coordinating regenerative disc growth with organismal developmental timing. PMID:25902518

  5. During Drosophila disc regeneration, JAK/STAT coordinates cell proliferation with Dilp8-mediated developmental delay.

    PubMed

    Katsuyama, Tomonori; Comoglio, Federico; Seimiya, Makiko; Cabuy, Erik; Paro, Renato

    2015-05-05

    Regeneration of fragmented Drosophila imaginal discs occurs in an epimorphic manner involving local cell proliferation at the wound site. After disc fragmentation, cells at the wound site activate a restoration program through wound healing, regenerative cell proliferation, and repatterning of the tissue. However, the interplay of signaling cascades driving these early reprogramming steps is not well-understood. Here, we profiled the transcriptome of regenerating cells in the early phase within 24 h after wounding. We found that JAK/STAT signaling becomes activated at the wound site and promotes regenerative cell proliferation in cooperation with Wingless (Wg) signaling. In addition, we showed that the expression of Drosophila insulin-like peptide 8 (dilp8), which encodes a paracrine peptide to delay the onset of pupariation, is controlled by JAK/STAT signaling in early regenerating discs. Our findings suggest that JAK/STAT signaling plays a pivotal role in coordinating regenerative disc growth with organismal developmental timing.

  6. Sensory features and repetitive behaviors in children with autism and developmental delays.

    PubMed

    Boyd, Brian A; Baranek, Grace T; Sideris, John; Poe, Michele D; Watson, Linda R; Patten, Elena; Miller, Heather

    2010-04-01

    This study combined parent and observational measures to examine the association between aberrant sensory features and restricted, repetitive behaviors in children with autism (N=67) and those with developmental delays (N=42). Confirmatory factor analysis was used to empirically validate three sensory constructs of interest: hyperresponsiveness, hyporesponsiveness, and sensory seeking. Examining the association between the three derived sensory factor scores and scores on the Repetitive Behavior Scales--Revised revealed the co-occurrence of these behaviors in both clinical groups. Specifically, high levels of hyperresponsive behaviors predicted high levels of repetitive behaviors, and the relationship between these variables remained the same controlling for mental age. We primarily found non-significant associations between hyporesponsiveness or sensory seeking and repetitive behaviors, with the exception that sensory seeking was associated with ritualistic/sameness behaviors. These findings suggest that shared neurobiological mechanisms may underlie hyperresponsive sensory symptoms and repetitive behaviors and have implications for diagnostic classification as well as intervention.

  7. Increasing pre-kindergarten early literacy skills in children with developmental disabilities and delays.

    PubMed

    Pears, Katherine C; Kim, Hyoun K; Fisher, Philip A; Yoerger, Karen

    2016-08-01

    Two hundred and nine children receiving early childhood special education services for developmental disabilities or delays who also had behavioral, social, or attentional difficulties were included in a study of an intervention to increase school readiness, including early literacy skills. Results showed that the intervention had a significant positive effect on children's literacy skills from baseline to the end of summer before the start of kindergarten (d=.14). The intervention also had significant indirect effects on teacher ratings of children's literacy skills during the fall of their kindergarten year (β=.09). Additionally, when scores were compared to standard benchmarks, a greater percentage of the children who received the intervention moved from being at risk for reading difficulties to having low risk. Overall, this study demonstrates that a school readiness intervention delivered prior to the start of kindergarten may help increase children's early literacy skills.

  8. The role of hospital-based dentistry in providing treatment for persons with developmental delay.

    PubMed

    Park, Michael S; Sigal, Michael J

    2008-05-01

    Hospital dentistry is important to the delivery of oral health care to persons with disabilities. Recent cuts in funding for hospital dentistry in Ontario have placed a great strain on the health care system"s ability to meet the demand for such care. General anesthesia is an accepted treatment option for patients who are uncooperative, but involves inherent risks. In this paper, we present the case of a person with developmental delay who received dental treatment under general anesthesia and subsequently developed complications to support the position that a dental program for persons with special needs should be provided in a hospital setting to minimize their risk of suffering serious complications and to ensure their safety.

  9. Quantifying the Strength and Delay of ENSOs Teleconnections with Graphical Models and a novel Partial Correlation Measure

    NASA Astrophysics Data System (ADS)

    Runge, J.; Petoukhov, V.; Kurths, J.

    2013-12-01

    The analysis of time delays using lagged cross correlations is commonly used to gain insights into interaction mechanisms between climatological processes, also to quantify the strength of a mechanism. Especially ENSOs teleconnections have been investigated with this approach. Here we critically evaluate how justified this method is, i.e., what aspect of a climatic mechanism such an inferred time lag actually measures. We find a strong dependence on serial dependencies or autocorrelation which can lead to misleading conclusions about the time delays and also obscures a quantification of the interaction mechanism. To overcome these possible artifacts, we propose a two-step procedure based on the concept of graphical models recently introduced to climate research. In the first step, graphical models are used to detect the existence of (Granger-) causal interactions which determines the time delays of a mechanism. In the second step a certain partial correlation is introduced that allows to specifically quantify the strength of an interaction mechanism in a well interpretable way that enables to exclude misleading effects of serial correlation as well as more general dependencies. With this approach we find novel interpretations of the time delays and strengths of ENSOs teleconnections. The potential of the approach to quantify interactions also between more than two variables is demonstrated by investigating the mechanism of the Walker circulation. Overview over important teleconnections. The black dashed lines denote the regions used in the bivariate analyses, while the gray boxes show the three regions analyzed to study the Walker circulation (see the inset). The arrows indicate the direction with the gray shading roughly corresponding to the novel partial correlation measure strength. The label gives the value and time lag in months in brackets.

  10. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

    PubMed

    Reid, Emma S; Williams, Hywel; Anderson, Glenn; Benatti, Malika; Chong, Kling; James, Chela; Ocaka, Louise; Hemingway, Cheryl; Little, Daniel; Brown, Richard; Parker, Alasdair; Holden, Simon; Footitt, Emma; Rahman, Shamima; Gissen, Paul; Mills, Philippa B; Clayton, Peter T

    2017-03-02

    Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novel SLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the literature including hypotonia, refractory neonatal-onset seizures and developmental delay. However, the sixth patients presented atypically with isolated developmental delay, developing late-onset (absence) seizures only at 7 years of age. Abnormal metabolite levels have not been documented in the nine patients described previously. One patient in our series was referred to the metabolic clinic because of persistent hyperprolinaemia and another three had raised plasma proline when tested. Analysis of the post-prandial plasma amino acid response in one patient showed abnormally high concentrations of several amino acids. This suggested that, in the fed state, when amino acids are the preferred fuel for the liver, trans-deamination of amino acids requires transportation of glutamate into liver mitochondria by SLC25A22 for deamination by glutamate dehydrogenase; SLC25A22 is an important mitochondrial glutamate transporter in liver as well as in brain. Electron microscopy of patient fibroblasts demonstrated widespread vacuolation containing neutral and phospho-lipids as demonstrated by Oil Red O and Sudan Black tinctorial staining; this might be explained by impaired activity of the proline/pyrroline-5-carboxylate (P5C) shuttle if SLC25A22 transports pyrroline-5-carboxylate/glutamate-γ-semialdehyde as well as glutamate.

  11. CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

    PubMed

    DeMari, Joseph; Mroske, Cameron; Tang, Sha; Nimeh, Joseph; Miller, Ryan; Lebel, Robert R

    2016-04-01

    Diagnostic exome sequencing has recently emerged as an invaluable tool in determining the molecular etiology of cases involving dysmorphism and developmental delay that are otherwise unexplained by more traditional methods of genetic testing. Our patient was large for gestational age at 35 weeks, delivered to a 27-year-old primigravid Caucasian whose pregnancy was complicated by preeclampsia. Neonatal period was notable for hypoglycemia, apnea, bradycardia, hyperbilirubinemia, grade I intraventricular hemorrhage, subdural hematoma, laryngomalacia, hypotonia, and feeding difficulties. The patient had numerous minor dysmorphic features. At three and a half years of age, she has global developmental delays and nystagmus, and is being followed for a mediastinal neuroblastoma that is currently in remission. Karyotype and oligo-microarray were normal. Whole-exome, next generation sequencing (NGS) coupled to bioinformatic filtering and expert medical review at Ambry Genetics revealed 14 mutations in 9 genes, and these genes underwent medical review. A heterozygous de novo frameshift mutation, c.2737_2738dupGA p.D913Efs*59, in which two nucleotides are duplicated in exon 17 of the CLTC gene, results in substitution of glutamic acid for aspartic acid at position 913 of the protein, as well as a frame shift that results in a premature termination codon situated 58 amino acids downstream. Clathrin Heavy Chain 1 (CHC1) has been shown to play an important role in the brain for vesicle recycling and neurotransmitter release at pre-synaptic nerve terminals. There is also evidence implicating it in the proper development of the placenta during the early stages of pregnancy. The CLTC alteration identified herein is likely to provide an explanation for the patient's adverse phenotype. Ongoing functional studies will further define the impact of this alteration on CHC1 function and consequently, human disease.

  12. Correlates of directiveness in the interactions of fathers and mothers of children with developmental delays.

    PubMed

    Girolametto, L; Tannock, R

    1994-10-01

    Twenty preschool-age children with developmental delays and language impairment participated in this study, which compared fathers' and mothers' directiveness and parental stress. Similarities between fathers and mothers were found for turntaking control, response referents, and responses to the child's participation. However, fathers differed from mothers in two of the dimensions of directiveness examined: fathers used more response control and topic control than mothers. Both parents reported similarly low levels of child-related and parenting stress, but mothers perceived more stress than fathers related to the responsibilities associated with parenting a child with a handicap. Correlations between directiveness, child characteristics, and stress revealed that fathers used greater turntaking control and topic control with children who were developmentally less mature, whereas mothers used greater topic control with children who were less involved in interaction. Both fathers' and mothers' use of response control was positively related to stress. Implications for involving fathers in parent-focused intervention include screening father-child interactions before intervention, interpreting parent-child interaction styles in terms of their role in enhancing the child's social participation, and acknowledging the role of familial factors (such as stress) on interaction styles.

  13. Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis.

    PubMed

    Trakadis, Yannis; Shevell, Michael

    2011-11-01

    Microarray technology has a significantly higher clinical yield than karyotyping in individuals with global developmental delay (GDD). Despite this, it has not yet been routinely implemented as a screening test owing to the perception that this approach is more expensive. We aimed to evaluate the effect that replacing karyotype with array-based comparative genomic hybridization (aCGH) would have on the total cost of the workup for GDD. We evaluated the cost-effectiveness of aCGH compared with karyotyping by retrospectively analysing the cost of workup in a cohort of 114 children (69 males; 45 females) representing a consecutive series of children diagnosed with GDD. The average increase in cost if aCGH had been performed instead of karyotyping as a first test was $442 per individual when performed by a private company (98% confidence interval $238-604). In contrast, $106 (98% confidence interval -$17 to $195) would have been saved if aCGH was performed locally in a laboratory already possessing the required technology. The incremental cost per additional diagnosis was estimated to be $12,874 if aCGH was performed in a private laboratory, but <$1379 if performed locally. (Costs reported in Canadian dollars, using 2010 prices.) aCGH would be cost-effective as a first genetic test in the clinical evaluation of individuals with GDD. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

  14. ASSESSMENT OF DISTRESS IN YOUNG CHILDREN: A COMPARISON OF AUTISTIC DISORDER, DEVELOPMENTAL DELAY, AND TYPICAL DEVELOPMENT

    PubMed Central

    Esposito, G.; Venuti, P.; Bornstein, M.H.

    2011-01-01

    Distress emotions in very young children are manifest in vocal, facial, and bodily cues. Moreover, children with different developmental conditions (i.e. Autistic Disorder- AD, Developmental Delay- DD, Typically Developing- TD) appear to manifest their distress emotions via different channels. To decompose channel of emotional distress display by group, we conducted a study in which video clips of crying of 18 children 18 months of age belonging to three groups (AD, DD, TD) were modified to isolate vocal, facial, or bodily cues, and 42 female adults were asked to judge the distress and typicality (expected normality) of the different stimuli. We find variation in adult judgements of distress and typicality by child group (AD, DD, TD) and by isolated cues (vocal, facial, or body). Although there is some overlap between responses to episodes of crying of children with AD and those with DD, the different cues of crying of children with AD tend to be considered more atypical and distressed than those of the other two groups (DD and TD). Early assessment of different cues of the expression of distress, and more generally of emotional expressivity in a child, may provide useful information for pediatricians and practitioners who are in contact with young children and must make clinical screening decisions. The findings also alert parents of children with AD to important aspects of their cries. PMID:21647245

  15. Practitioner Review: Self-injurious behaviour in children with developmental delay.

    PubMed

    Oliver, Chris; Richards, Caroline

    2015-10-01

    Self-injurious behaviour is shown by a significant minority of children with developmental delay and has a substantial impact on child and carer wellbeing. Characteristics such as a greater degree of intellectual disability, autism spectrum disorder, some genetic syndromes and repetitive and impulsive behaviours are positively associated with self-injury. Prevalence generally increases with age into midadulthood and the behaviour is notably persistent. In this review, we discuss the dominant causal theory of self-injury which draws on the principles of operant learning. We evaluate the utility of this theory to account for all empirical observations of self-injury. A model of self-injury is presented that extends a previous model described by Guess and Carr. The new model integrates child characteristics and operant learning principles in a phenotype × environment paradigm to explain the variance in developmental trajectory of the severity of self-injury. Behaviour dysregulation, as evidenced by the associations between self-injury, self-restraint, repetitive and impulsive behaviours, is identified as potentially influencing the severity and persistence of self-injury. Risk markers for self-injury are identified and the extended model indicates points of intervention and highlights the possibility of risk-related, targeted early intervention. The need for increased training of practitioners in the delivery of demonstrably effective interventions for self-injury is identified. © 2015 Association for Child and Adolescent Mental Health.

  16. Longitudinal change in parenting associated with developmental delay and catch-up.

    PubMed

    Croft, C; O'Connor, T G; Keaveney, L; Groothues, C; Rutter, M

    2001-07-01

    The current study examined the predictors of parent-child relationship quality and developmental change in a sample of children adopted into the U.K. following severe early privation, and in a comparison sample of nondeprived, within-country adoptees. One hundred and fifty-eight children adopted from Romania and 52 U.K. adoptees were assessed at age 6 years; longitudinal data (age 4 and 6 years) were available on the 110 Romanian adoptees placed into U.K. homes before 24 months of age and all U.K. adoptees. Ratings of parent-child positivity and negativity during a semistructured interaction task were obtained from coders who were blind to the child's background. Results indicated that adoptive parent-child relationship quality was related to duration of deprivation and that cognitive/developmental delay mediated this association. The magnitude of this effect was modest and diminished over time. Longitudinal analyses revealed that positive change in parent-child relationship quality was most marked among children who exhibited cognitive catch-up between assessments. The direction of effects appeared to be primarily child to parent. The findings underscore the need for further research on the long-term impact of early experiences on psychosocial development.

  17. Improved detection of developmental delays among young children in foster care.

    PubMed

    Jee, Sandra H; Szilagyi, Moira; Ovenshire, Claire; Norton, Amy; Conn, Anne-Marie; Blumkin, Aaron; Szilagyi, Peter G

    2010-02-01

    Our goal was to determine if systematic use of a validated developmental screening instrument is feasible and improves the detection of developmental delay (DD) in a pediatric medical home for children in foster care. This study had a pre-post study design, following a practice intervention to screen all children in foster care for DD by using the Ages and Stages Questionnaire (ASQ). The baseline detection rate was determined by medical chart review for all children aged 4 to 61 months who were new to foster care (NFC) during a 2-year period. After implementation of systematic screening, caregivers of young children who were NFC or already in foster care (IFC) completed the ASQ at preventive health care visits. We assessed the feasibility of systematic screening (the percentage of ASQs completed among the NFC and IFC groups). We compared the detection of DD among the baseline NFC group and the screening-NFC group by using bivariate and multivariable logistic regression. Of 261 visits that occurred after initiation of screening, 251 (96%) visits had a completed ASQ form in the medical chart, demonstrating high feasibility. Among children who were NFC, the detection of DD was higher in the screening than baseline period for the entire population (58% vs 29%; P < .001), for each age group (infants: 37% vs 14%; toddlers: 89% vs 42%; preschool: 82% vs 44%; all P < or = .01), and for all developmental domains. On adjusted analyses, the detection of potential DD in toddler and preschool children was higher among the NFC screening group than the NFC baseline group. Systematic screening for DD using the ASQ was feasible and seemed to double the detection of DDs.

  18. Gold nanorods induce early embryonic developmental delay and lethality in zebrafish (Danio rerio).

    PubMed

    Mesquita, Bárbara; Lopes, Isabel; Silva, Susana; Bessa, Maria João; Starykevich, Maksim; Carneiro, Jorge; Galvão, Tiago L P; Ferreira, Mário G S; Tedim, João; Teixeira, João Paulo; Fraga, Sónia

    2017-07-11

    Due to their unique electronic and optical features, gold nanoparticles (AuNP) have received a great deal of attention for application in different fields such as catalysis, electronics, and biomedicine. The large-volume manufacturing predicted for future decades and the inevitable release of these substances into the environment necessitated an assessment of potential adverse human and ecological risks due to exposure to AuNP. Accordingly, this study aimed to examine the acute and developmental toxicity attributed to a commercial suspension of Au nanorods stabilized with cetyltrimethylammonium bromide (CTAB-AuNR) using early embryonic stages of zebrafish (Danio rerio), a well-established model in ecotoxicology. Zebrafish embryos were exposed to CTAB-AuNR (0-150 µg/L) to determine for developmental assessment until 96 hr post fertilization (hpf) and lethality. Uptake of CTAB-AuNR by embryos and nanoparticles potential to induce DNA damage was also measured at 48 and 96 hpf. Analysis of the concentration-response curves with cumulative mortality at 96 hpf revealed a median lethal concentration (LC50,96h) of 110.2 μg/L. At sublethal concentrations, CTAB-AuNR suspensions were found to produce developmental abnormalities such as tail deformities, pericardial edema, decreased body length, and delayed eye, head, and tail elongation development. Further, less than 1% of the initial concentration of CTAB-AuNR present in the exposure media was internalized by zebrafish embryos prior to (48 hpf) and after hatching (96 hpf). In addition, no marked DNA damage was detected in embryos after exposure to CTAB-AuNR. Overall, CTAB-AuNR suspensions produced lethal and sublethal effects on zebrafish embryos with possible repercussions in fitness of adult stages. However, these results foresee a low risk for fish since the observed effects occurred at concentrations above the levels expected to find in the aquatic environment.

  19. Predictors of Poor School Readiness in Children Without Developmental Delay at Age 2.

    PubMed

    Nelson, Bergen B; Dudovitz, Rebecca N; Coker, Tumaini R; Barnert, Elizabeth S; Biely, Christopher; Li, Ning; Szilagyi, Peter G; Larson, Kandyce; Halfon, Neal; Zimmerman, Frederick J; Chung, Paul J

    2016-08-01

    Current recommendations emphasize developmental screening and surveillance to identify developmental delays (DDs) for referral to early intervention (EI) services. Many young children without DDs, however, are at high risk for poor developmental and behavioral outcomes by school entry but are ineligible for EI. We developed models for 2-year-olds without DD that predict, at kindergarten entry, poor academic performance and high problem behaviors. Data from the Early Childhood Longitudinal Study, Birth Cohort (ECLS-B), were used for this study. The analytic sample excluded children likely eligible for EI because of DDs or very low birth weight. Dependent variables included low academic scores and high problem behaviors at the kindergarten wave. Regression models were developed by using candidate predictors feasibly obtainable during typical 2-year well-child visits. Models were cross-validated internally on randomly selected subsamples. Approximately 24% of all 2-year-old children were ineligible for EI at 2 years of age but still had poor academic or behavioral outcomes at school entry. Prediction models each contain 9 variables, almost entirely parental, social, or economic. Four variables were associated with both academic and behavioral risk: parental education below bachelor's degree, little/no shared reading at home, food insecurity, and fair/poor parental health. Areas under the receiver-operating characteristic curve were 0.76 for academic risk and 0.71 for behavioral risk. Adding the mental scale score from the Bayley Short Form-Research Edition did not improve areas under the receiver-operating characteristic curve for either model. Among children ineligible for EI services, a small set of clinically available variables at age 2 years predicted academic and behavioral outcomes at school entry. Copyright © 2016 by the American Academy of Pediatrics.

  20. Prevalence of Developmental Delay and Contributing Factors Among Children With Sickle Cell Disease.

    PubMed

    Drazen, Catherine Hoyt; Abel, Regina; Gabir, Mohamed; Farmer, Grant; King, Allison A

    2016-03-01

    Children with sickle cell disease (SCD) are at higher risk for deficits in cognition compared to the general population, even at young ages. Disease severity has been co-assessed in earlier studies, but the home environment has not. The purpose of the current study was to investigate the development of young children with SCD and secondarily, the impact of environmental and family factors. The current study is a baseline cross-sectional evaluation of a prospective, single-center cohort. Children with SCD between the ages of 1 and 42 months and their primary caregiver were included. Participants lived within 30 miles of the site and spoke English. Children underwent developmental evaluation using the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III). Home visits were completed and screened using the Home Observation for Measurement of the Environment (HOME). Over 3 years, 43 caregiver-child dyads consented and participated. Over 50% of children scored significantly below average on cognition and expressive language subscales. SCD severity was not associated with BSID-III scores. Socioeconomic status (SES) determined by the Diez-Roux method positively correlated (r = 0.401, P < 0.01) with the home environment. The HOME correlated (r = 0.360, P < 0.05) with the cognitive subscale on the BSID-III. Given the high prevalence of developmental delay in this population, identifying modifiable factors to maximize developmental progress is essential. The home environment would be a targeted method for intervention. Future research is needed to identify the benefits of home-based intervention for this population. © 2015 Wiley Periodicals, Inc.

  1. Exposure of children with developmental delay to social determinants of poor health: cross-sectional case record review study.

    PubMed

    Emerson, E; Brigham, P

    2015-03-01

    Research on child development in general has highlighted the importance that the family environment plays in mediating the pathway between exposure to low socio-economic position (SEP) and child well-being. While child developmental models in intellectual disability have highlighted the interplay between social context, family environment and child development, little empirical work has attempted to formally evaluate the evidence in support of specific mediating pathways between low SEP and child outcomes. Secondary analysis of cross-sectional confidentialized needs analysis data collected in three Primary Care Trusts in England covering a total population of 1.25 million people. Case record reviews were undertaken for 46 023 households, 2236 (4.9%) of which contained a child in the target age range with developmental delay. Children with developmental delay, when compared with their non-disabled peers, were at significantly increased risk of poorer health outcomes and of being exposed to a wide range of social determinants of poor health. Controlling for between-group differences in exposure to social determinants of poor health reduced the risk of developmental delay being associated with poorer health outcomes by 45% for behaviour problems and 89% for risk of significant harm. For children with developmental delay, parenting difficulties appears to play a particularly significant role in partially mediating the effects of low SEP. The findings of the present study point to the potential effectiveness of family-focused early intervention to prevent the emergence and escalation of behavioural difficulties and health problems in children with developmental delay. © 2014 John Wiley & Sons Ltd.

  2. Dyrk1A Haploinsufficiency Affects Viability and Causes Developmental Delay and Abnormal Brain Morphology in Mice

    PubMed Central

    Fotaki, Vassiliki; Dierssen, Mara; Alcántara, Soledad; Martínez, Salvador; Martí, Eulàlia; Casas, Caty; Visa, Joana; Soriano, Eduardo; Estivill, Xavier; Arbonés, Maria L.

    2002-01-01

    DYRK1A is the human orthologue of the Drosophila minibrain (mnb) gene, which is involved in postembryonic neurogenesis in flies. Because of its mapping position on chromosome 21 and the neurobehavioral alterations shown by mice overexpressing this gene, involvement of DYRK1A in some of the neurological defects of Down syndrome patients has been suggested. To gain insight into its physiological role, we have generated mice deficient in Dyrk1A function by gene targeting. Dyrk1A−/− null mutants presented a general growth delay and died during midgestation. Mice heterozygous for the mutation (Dyrk1A+/−) showed decreased neonatal viability and a significant body size reduction from birth to adulthood. General neurobehavioral analysis revealed preweaning developmental delay of Dyrk1A+/− mice and specific alterations in adults. Brains of Dyrk1A+/− mice were decreased in size in a region-specific manner, although the cytoarchitecture and neuronal components in most areas were not altered. Cell counts showed increased neuronal densities in some brain regions and a specific decrease in the number of neurons in the superior colliculus, which exhibited a significant size reduction. These data provide evidence about the nonredundant, vital role of Dyrk1A and suggest a conserved mode of action that determines normal growth and brain size in both mice and flies. PMID:12192061

  3. Global developmental delay in a 10-month-old infant boy.

    PubMed

    Blum, Nathan J; Bird, Lynne M; Stein, Martin T

    2009-02-01

    A 10-month-old boy was seen for the first time for a health supervision visit by a pediatrician. A brief review of the child's medical history did not reveal any specific problems. On physical examination, the pediatrician found an alert, smiling child, but she was surprised by the following observations: unable to sit without support, absent pincer grasp, no audible language, unilateral exotropia, and microcephaly. Expansion of the medical history revealed an uneventful full-term prenatal course and normal vaginal delivery. The mother denied use of alcohol or other drugs/medications during the pregnancy. She did not have a recent history of any infections, unexplained fevers, or high risks for sexually transmitted disease. The baby cried spontaneously and the parents reported no resuscitation efforts. There were early feeding problems associated with a poor suck and gastroesophageal reflux. The parents were healthy and this was their first child. Family history was negative for early problems in child development or any neurological conditions. Parents were high school graduates without any learning problems; they were both employed in retail sales with a steady employment history. The pediatrician then took a second look at the child and discovered truncal hypotonia, extremity hypertonia, tongue protrusion, and a broad mouth. She concluded that the child had a global developmental delay, including delays in motor, language, and social development.

  4. Consonant and syllable complexity of toddlers with Down syndrome and mixed-aetiology developmental delays

    PubMed Central

    SOKOL, SHARI B.; FEY, MARC E.

    2014-01-01

    This study examines whether speech sound production of toddlers with Down syndrome (DS) is on par with or more severely impaired than that of mental age (MA) peers with developmental delay due to aetiologies other than Down syndrome at two points within an 18-month period near the onset of spoken word production. The utterances of 26 children with DS, aged 24–33 months, with a mean MA of 14.3 months, originally studied by Fey et al. (2006) and Warren et al. (2008) were compared to those of a group of 22 children with similar intellectual and communication delay but no DS (NDS). Phonological measures included the size of the consonant inventory, syllable shape complexity, and number of communication acts with canonical vocalizations. At Time 1, the DS group performed as well as or better than the NDS group on these measures of speech production. At Time 2, 18 months later, the DS group was behind the NDS group on the same measures. Results extended the pattern of more severe impairment in children with DS than NDS peers commonly noted in expressive language to measures of phonological development. PMID:24050845

  5. Sports participation of children with or without developmental delay: prediction from child and family factors.

    PubMed

    Marquis, Willa A; Baker, Bruce L

    2015-02-01

    Sports participation is beneficial to health and socioemotional adjustment in youth across development. While there is some evidence indicating lower sports participation for children with developmental delays (DD) as compared with their typically developing (TD) peers, little is known as to the predictors of this differential participation. Given the increased risk of physical and mental health difficulties for children with DD, understanding more about this disparity is important. We examined sports participation in elementary school-aged children with or without DD and examined child and family predictors of three indices of sports participation: number of sports and highest relational sport at ages 6 and 8, and consistent sports from 6 to 8. Children with TD were significantly higher on all three indicators. Mother and child factors related significantly to sports participation indices. The number of sports related positively to mother education and positive perceptions and negatively to mother employment. Relational sports were higher in boys, children with higher social skills, and lower behavior problems. In regression analyses at child age 8 that included these other variables, delay status (DD or TD) did not have a significant effect. Perspectives on varying influences on sports participation and implications for intervention are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

  6. The developmental switch in GABA polarity is delayed in fragile X mice.

    PubMed

    He, Qionger; Nomura, Toshihiro; Xu, Jian; Contractor, Anis

    2014-01-08

    Delays in synaptic and neuronal development in the cortex are key hallmarks of fragile X syndrome, a prevalent neurodevelopmental disorder that causes intellectual disability and sensory deficits and is the most common known cause of autism. Previous studies have demonstrated that the normal progression of plasticity and synaptic refinement during the critical period is altered in the cortex of fragile X mice. Although the disruptions in excitatory synapses are well documented in fragile X, there is less known about inhibitory neurotransmission during the critical period. GABAergic transmission plays a crucial trophic role in cortical development through its early depolarizing action. At the end of cortical critical period, response properties of GABA transform into their mature hyperpolarizing type due to developmental changes in intracellular chloride homeostasis. We found that the timing of the switch from depolarizing to hyperpolarizing GABA is delayed in the cortex of fragile X mice and there is a concurrent alteration in the expression of the neuronal chloride cotransporter NKCC1 that promotes the accumulation of intracellular chloride. Disruption of the trophic effects of GABA during cortical development could contribute to the altered trajectory of synaptic maturation in fragile X syndrome.

  7. Initiation of movement and energy expenditure in children with developmental delay: a case-control study.

    PubMed

    Chen, Chiao-Nan Joyce; Hwang, Ai-Wen; Lin, Shang-Ying; Lin, Yu-Chieh

    2014-10-01

    Lower levels of physical activity in children with developmental delay (DD) usually are attributed to higher energy costs. However, there is no evidence that children with DD spend more energy on daily physical activities, such as walking. The aim of this study was to compare energy costs during walking and movement initiation times in children with DD and children with typical development (TD) and matched for age. This was a case-control study. Children who were 3 and 5 years old and had DD (n=12) or TD (n=12) participated in the study. Measurements included ranges of motion in the lower extremities, physiological costs of walking, and movement initiation times. A task designed to evaluate the initiation of movement (the "go play with the toy" task) was used to examine the reaction times for children's goal-directed walking. The physiological costs of walking were similar in the 2 groups; however, children with DD walked at a lower speed than children with TD. Importantly, children with DD took more time to initiate goal-directed walking. The nature of the study design limited causal inference from the results. Children who were 3 to 5 years old and had DD had delays in goal-directed movement that may not have been attributable to motor impairments. The findings suggest that therapists should evaluate the movement initiation ability of 3- to 5-year-old children with DD as part of the design of an overall intervention plan. © 2014 American Physical Therapy Association.

  8. The effectiveness of multimedia visual perceptual training groups for the preschool children with developmental delay.

    PubMed

    Chen, Yi-Nan; Lin, Chin-Kai; Wei, Ta-Sen; Liu, Chi-Hsin; Wuang, Yee-Pay

    2013-12-01

    This study compared the effectiveness of three approaches to improving visual perception among preschool children 4-6 years old with developmental delays: multimedia visual perceptual group training, multimedia visual perceptual individual training, and paper visual perceptual group training. A control group received no special training. This study employed a pretest-posttest control group of true experimental design. A total of 64 children 4-6 years old with developmental delays were randomized into four groups: (1) multimedia visual perceptual group training (15 subjects); (2) multimedia visual perceptual individual training group (15 subjects); paper visual perceptual group training (19 subjects); and (4) a control group (15 subjects) with no visual perceptual training. Forty minute training sessions were conducted once a week for 14 weeks. The Test of Visual Perception Skills, third edition, was used to evaluate the effectiveness of the intervention. Paired-samples t-test showed significant differences pre- and post-test among the three groups, but no significant difference was found between the pre-test and post-test scores among the control group. ANOVA results showed significant differences in improvement levels among the four study groups. Scheffe post hoc test results showed significant differences between: group 1 and group 2; group 1 and group 3; group 1 and the control group; and group 2 and the control group. No significant differences were reported between group 2 and group 3, and group 3 and the control group. The results showed all three therapeutic programs produced significant differences between pretest and posttest scores. The training effect on the multimedia visual perceptual group program and the individual program was greater than the developmental effect Both the multimedia visual perceptual group training program and the multimedia visual perceptual individual training program produced significant effects on visual perception. The

  9. Mothers' Perceived Physical Health during Early and Middle Childhood: Relations with Child Developmental Delay and Behavior Problems

    ERIC Educational Resources Information Center

    Eisenhower, Abbey; Blacher, Jan; Baker, Bruce L.

    2013-01-01

    The self-perceived physical health of mothers raising children with developmental delay (DD; N = 116) or typical development (TD; N = 129) was examined across child ages 3-9 years, revealing three main findings. First, mothers of children with DD experienced poorer self-rated physical health than mothers of children with TD at each age. Latent…

  10. The Efficacy of Treatment for Children with Developmental Speech and Language Delay/ Disorder: A Meta-Analysis.

    ERIC Educational Resources Information Center

    Law, James; Garrett, Zoe; Nye, Chad

    2004-01-01

    A meta-analysis was carried out of interventions for children with primary developmental speech and language delays/disorders. The data were categorized depending on the control group used in the study (no treatment, general stimulation, or routine speech and language therapy) and were considered in terms of the effects of intervention on…

  11. Brief Report: Effects of Pressure Vest Usage on Engagement and Problem Behaviors of a Young Child with Developmental Delays

    ERIC Educational Resources Information Center

    Reichow, Brian; Barton, Erin E.; Good, Leslie; Wolery, Mark

    2009-01-01

    The purpose of this study was to examine the effects of wearing a pressure vest for a young boy with developmental delays. An A-B-A withdrawal design was used to examine the relation between wearing the pressure vest and child behaviors during a preschool art activity. Although the data showed moderate variability, no systematic differences were…

  12. Using an Augmentative and Alternative Communication Device to Teach a Preschooler with Developmental Delays to Request Assistance and Seek Attention

    ERIC Educational Resources Information Center

    Talkington, Nicole; McLaughlin, T. F.; Derby, K. Mark; Clark, Alison

    2013-01-01

    The purpose of this study was to evaluate the effectiveness of augmentative communication (AAC), specifically a Flip 'n Talk device, with a preschool student with developmental delays. Also, during data collection he was also being evaluated to determine if he had autism (ASD). The ability to functionally requesting assistance and to functionally…

  13. Longitudinal Assessment of Stereotypic, Proto-Injurious, and Self-Injurious Behavior Exhibited by Young Children with Developmental Delays

    ERIC Educational Resources Information Center

    Richman, David M.; Lindauer, Steven E.

    2005-01-01

    Twelve children (CA, 12 to 32 months) with developmental delay were observed in their homes during monthly analogue functional analysis probes to document patterns of emerging self-injurious behavior. Two patterns of emerging self-injury were observed for 5 participants: (a) The topography and functional analysis pattern remained the same, but the…

  14. Neural Correlates of Face and Object Recognition in Young Children with Autism Spectrum Disorder, Developmental Delay, and Typical Development.

    ERIC Educational Resources Information Center

    Dawson, Geraldine; Carver, Leslie; Meltzoff, Andrew N.; Panagiotides, Herachles; McPartland, James; Webb, Sara J.

    2002-01-01

    Compared face recognition ability in young children with autism to that of children with typical development and developmental delay. Took electroencephalographic recordings of brain activity while children viewed pictures of their mothers and unfamiliar females, and familiar and unfamiliar toys. Found that autistic children showed no differences…

  15. Predictors of Depressive Symptoms in Primary Caregivers of Young Children with or at Risk for Developmental Delay

    ERIC Educational Resources Information Center

    Feldman, M.; McDonald, L.; Serbin, L.; Stack, D.; Secco, M. L.; Yu, C. T.

    2007-01-01

    Background: Despite extensive research with families raising children with or at risk for developmental delay (DD), it is not clear whether primary caregivers of these children are at increased risk for depressive symptoms. Discrepant findings in the literature may be owing to heterogeneity of child problems. More research is needed on child,…

  16. Early Effects of Responsivity Education/Prelinguistic Milieu Teaching for Children with Developmental Delays and Their Parents

    ERIC Educational Resources Information Center

    Fey, Marc E.; Warren, Steven F.; Brady, Nancy; Finestack, Lizbeth H.; Bredin-Oja, Shelley L.; Fairchild, Martha; Sokol, Shari; Yoder, Paul J.

    2006-01-01

    Purpose: To evaluate the efficacy of a 6-month course of responsivity education/prelinguistic milieu teaching (RE/PMT) for children with developmental delay and RE/PMT's effects on parenting stress in a randomized clinical trial. Method: Fifty-one children, age 24-33 months, with no more than 10 expressive words or signs, were randomly assigned to…

  17. Effectiveness of Contrasting Approaches to Response-Contingent Learning among Children with Significant Developmental Delays and Disabilities

    ERIC Educational Resources Information Center

    Raab, Melinda; Dunst, Carl J.; Hamby, Deborah W.

    2016-01-01

    Findings from a randomized controlled design study of an ability-based versus needs-based approach to response-contingent learning among children with significant developmental delays and disabilities who did not use instrumental behavior to produce reinforcing consequences are reported. The ability-based intervention and needs-based intervention…

  18. Developing Social Skills To Assist Developmentally Delayed Preschool Children in Overcoming Separation Anxiety in a Public School Setting.

    ERIC Educational Resources Information Center

    Chambers-Murphy, Phylistine

    This study examined the effectiveness of 11 strategies designed to ease separation anxiety in preschool children. Subjects were 10 preschool children enrolled in a public school early childhood classroom for their first school experience. Each child was delayed in at least two of six developmental areas (social, emotional, cognitive,…

  19. Social-Emotional Competence in Young Children with Developmental Delays: Our Reflection and Vision for the Future

    ERIC Educational Resources Information Center

    Brown, William H.; Conroy, Maureen A.

    2011-01-01

    The authors provide a brief historical reflection on social-emotional competence intervention research along with their vision for future directions of intervention investigations for young children with developmental delays and difficulties. Specifically, they summarize "what we 'know'" and "what we "need to know"" in the area of social-emotional…

  20. Six-Month Persistence of Sleep Problems in Young Children with Autism, Developmental Delay, and Typical Development

    ERIC Educational Resources Information Center

    Goodlin-Jones, Beth; Schwichtenberg, A. J.; Iosif, Ana-Maria; Tang, Karen; Liu, Jingyi; Anders, Thomas F.

    2009-01-01

    The persistence of sleep problems in preschool children is examined against the matched comparison groups of children with developmental delay without autism and typically developing children. Objective and subjective measures of sleep problems of preschool-aged children were found to have produced varying results.

  1. Effectiveness of Contrasting Approaches to Response-Contingent Learning among Children with Significant Developmental Delays and Disabilities

    ERIC Educational Resources Information Center

    Raab, Melinda; Dunst, Carl J.; Hamby, Deborah W.

    2016-01-01

    Findings from a randomized controlled design study of an ability-based versus needs-based approach to response-contingent learning among children with significant developmental delays and disabilities who did not use instrumental behavior to produce reinforcing consequences are reported. The ability-based intervention and needs-based intervention…

  2. A Peer Support and Personal Growth Group for Parents with a Child Who Is Developmentally Disabled or Delayed.

    ERIC Educational Resources Information Center

    Van Pelt, Jeff

    The manual describes development of a personal growth and peer support group for parents of developmentally delayed or disabled children which was designed to help parents adjust expectations about their infant or young child and to accommodate the handicap. Initial decisions regarding leader and participant characteristics and frequency and…

  3. Lexical Training through Modeling and Elicitation Procedures with Late Talkers Who Have Specific Language Impairment and Developmental Delays

    ERIC Educational Resources Information Center

    Kouri, Theresa A.

    2005-01-01

    Late talkers with specific language impairment and developmental delay make up a large portion of our early childhood caseloads; therefore, an understanding of best clinical practices for these populations is essential. Early lexical learning was examined in 2 interactive treatment approaches with 29 late-talking preschoolers with language and…

  4. Predictors of Depressive Symptoms in Primary Caregivers of Young Children with or at Risk for Developmental Delay

    ERIC Educational Resources Information Center

    Feldman, M.; McDonald, L.; Serbin, L.; Stack, D.; Secco, M. L.; Yu, C. T.

    2007-01-01

    Background: Despite extensive research with families raising children with or at risk for developmental delay (DD), it is not clear whether primary caregivers of these children are at increased risk for depressive symptoms. Discrepant findings in the literature may be owing to heterogeneity of child problems. More research is needed on child,…

  5. Health and Psychiatric Disparities in Children with Cognitive and Developmental Delays: Implications for Health Policy in Quebec

    ERIC Educational Resources Information Center

    Nachshen, Jennifer S.; Martin-Storey, Alexa; Campisi, Lisa; Stack, Dale; Schwartzman, Alex; Serbin, Lisa

    2009-01-01

    Background: Previous research on psychiatric and health disparities according to level of cognitive functioning has focused on adults within an American healthcare context. The current study compares children with and without cognitive and developmental delays in Quebec, Canada, using physician billing data from a longitudinal study of low-income,…

  6. Increasing the vocal responses of children with autism and developmental disabilities using manual sign mand training and prompt delay.

    PubMed

    Carbone, Vincent J; Sweeney-Kerwin, Emily J; Attanasio, Vivian; Kasper, Tamara

    2010-01-01

    The purpose of this study was to determine the effect of manual sign mand training combined with prompt delay and vocal prompting on the production of vocal responses in nonvocal children with developmental disabilities. A multiple baseline design across participants verified the effectiveness of this intervention. All participants showed increases in vocal responses following the implementation of the independent variables.

  7. The Efficacy of Treatment for Children with Developmental Speech and Language Delay/ Disorder: A Meta-Analysis.

    ERIC Educational Resources Information Center

    Law, James; Garrett, Zoe; Nye, Chad

    2004-01-01

    A meta-analysis was carried out of interventions for children with primary developmental speech and language delays/disorders. The data were categorized depending on the control group used in the study (no treatment, general stimulation, or routine speech and language therapy) and were considered in terms of the effects of intervention on…

  8. Mothers' Perceived Physical Health during Early and Middle Childhood: Relations with Child Developmental Delay and Behavior Problems

    ERIC Educational Resources Information Center

    Eisenhower, Abbey; Blacher, Jan; Baker, Bruce L.

    2013-01-01

    The self-perceived physical health of mothers raising children with developmental delay (DD; N = 116) or typical development (TD; N = 129) was examined across child ages 3-9 years, revealing three main findings. First, mothers of children with DD experienced poorer self-rated physical health than mothers of children with TD at each age. Latent…

  9. Health and Psychiatric Disparities in Children with Cognitive and Developmental Delays: Implications for Health Policy in Quebec

    ERIC Educational Resources Information Center

    Nachshen, Jennifer S.; Martin-Storey, Alexa; Campisi, Lisa; Stack, Dale; Schwartzman, Alex; Serbin, Lisa

    2009-01-01

    Background: Previous research on psychiatric and health disparities according to level of cognitive functioning has focused on adults within an American healthcare context. The current study compares children with and without cognitive and developmental delays in Quebec, Canada, using physician billing data from a longitudinal study of low-income,…

  10. Neural Correlates of Face and Object Recognition in Young Children with Autism Spectrum Disorder, Developmental Delay, and Typical Development.

    ERIC Educational Resources Information Center

    Dawson, Geraldine; Carver, Leslie; Meltzoff, Andrew N.; Panagiotides, Herachles; McPartland, James; Webb, Sara J.

    2002-01-01

    Compared face recognition ability in young children with autism to that of children with typical development and developmental delay. Took electroencephalographic recordings of brain activity while children viewed pictures of their mothers and unfamiliar females, and familiar and unfamiliar toys. Found that autistic children showed no differences…

  11. Increasing the Vocal Responses of Children with Autism and Developmental Disabilities Using Manual Sign Mand Training and Prompt Delay

    ERIC Educational Resources Information Center

    Carbone, Vincent J.; Sweeney-Kerwin, Emily J.; Attanasio, Vivian; Kasper, Tamara

    2010-01-01

    The purpose of this study was to determine the effect of manual sign mand training combined with prompt delay and vocal prompting on the production of vocal responses in nonvocal children with developmental disabilities. A multiple baseline design across participants verified the effectiveness of this intervention. All participants showed…

  12. The Positive Impact of Early Intervention for Children with Developmental Delays, Gestational Cocaine Exposure, and Co-Occurring Risk Factors

    ERIC Educational Resources Information Center

    Ullery, Mary Anne; Katz, Lynne

    2017-01-01

    This article examined transition rates of young children (n = 102) from an early intervention program at the Linda Ray Intervention Program (LRIP) who had documented developmental delays and co-occurring prenatal drug exposure often coupled with verified child maltreatment. Findings indicated that there was significant group improvement from…

  13. Symbolic Play of Preschoolers with Severe Communication Impairments with Autism and Other Developmental Delays: More Similarities than Differences

    ERIC Educational Resources Information Center

    Thiemann-Bourque, Kathy S.; Brady, Nancy C.; Fleming, Kandace K.

    2012-01-01

    Children with autism are often described as having deficient play skills, particularly symbolic play. We compared the play of 35 children with autism to 38 children with other developmental delays. All children were preschool-age and produced less than 20 different words. Results indicated no significant differences across the two groups in their…

  14. Mothers' Perspectives of the Peer-Related Social Development of Young Children with Developmental Delays and Communication Disorders.

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Connor, Robert T.; Neville, Brian; Hammond, Mary A.

    2002-01-01

    Compared mothers' perspectives of children's peer-related social development from matched groups of children with developmental delays, communicative disorders, and typically developing children. Found that mothers rated children's social development as highly important, offered primarily internal rationales for success or difficulties in…

  15. Using Animation in Microsoft PowerPoint to Enhance Engagement and Learning in Young Learners with Developmental Delay

    ERIC Educational Resources Information Center

    Parette, Howard P., Jr.; Hourcade, Jack; Blum, Craig

    2011-01-01

    Over the past decade, a wide array of instructional technology applications have found their way into early intervention settings. Of particular importance to young learners who evidence developmental delays or are at risk for school failure are those technologies with the potential to more effectively teach basic emergent literacy skills: (1)…

  16. Longitudinal Assessment of Stereotypic, Proto-Injurious, and Self-Injurious Behavior Exhibited by Young Children with Developmental Delays

    ERIC Educational Resources Information Center

    Richman, David M.; Lindauer, Steven E.

    2005-01-01

    Twelve children (CA, 12 to 32 months) with developmental delay were observed in their homes during monthly analogue functional analysis probes to document patterns of emerging self-injurious behavior. Two patterns of emerging self-injury were observed for 5 participants: (a) The topography and functional analysis pattern remained the same, but the…

  17. Field Experience + Inclusive ECE Classrooms = Increased Preservice Teacher Efficacy in Working with Students with Developmental Delays or Disabilities

    ERIC Educational Resources Information Center

    Atiles, Julia T.; Jones, Jennifer L.; Kim, Hyunjin

    2012-01-01

    The current study examined whether field placements within an inclusive classroom are associated with improved preservice teacher's efficacy when working with children with developmental delays or disabilities. Study participants were 165 undergraduate students enrolled in primary teacher education classes at a Midwestern university. Participants…

  18. Adapting Webster-Stratton's incredible years parent training for children with developmental delay: findings from a treatment group only study.

    PubMed

    McIntyre, L L

    2008-12-01

    Children with intellectual or developmental disabilities (ID/DD) are more likely than typically developing children to experience behaviour problems. Parent training, such as the Incredible Years Parent Training (IYPT) series, has been a widely used intervention to support families with children with or at-risk for behaviour problems; yet to date, this programme has not been used with parents with young children with developmental delay or disabilities. This preliminary treatment group only study assessed the feasibility of implementing a modified parent training programme (IYPT-DD) with 25 families with 2-5-year-old children with developmental delay. Intervention consisted of 12 weekly (2.5 h) sessions with topics covering developmentally appropriate play, praise, rewards, limit setting and handling challenging behaviour. Results suggest preliminary evidence of efficacy in reducing negative parent and child behaviour and increasing parental perceptions of child positive impact. This study provides evidence for the feasibility of the DD modifications applied to the IYPT. Although this approach is promising, additional evidence is needed to address the efficacy of IYPT-DD in children with developmental delay.

  19. Regulation of Aedes aegypti Population Dynamics in Field Systems: Quantifying Direct and Delayed Density Dependence

    PubMed Central

    Walsh, Rachael K.; Aguilar, Cristobal L.; Facchinelli, Luca; Valerio, Laura; Ramsey, Janine M.; Scott, Thomas W.; Lloyd, Alun L.; Gould, Fred

    2013-01-01

    Transgenic strains of Aedes aegypti have been engineered to help control transmission of dengue virus. Although resources have been invested in developing the strains, we lack data on the ecology of mosquitoes that could impact the success of this approach. Although studies of intra-specific competition have been conducted using Ae. aegypti larvae, none of these studies examine mixed age cohorts at densities that occur in the field, with natural nutrient levels. Experiments were conducted in Mexico to determine the impact of direct and delayed density dependence on Ae. aegypti populations. Natural water, food, and larval densities were used to estimate the impacts of density dependence on larval survival, development, and adult body size. Direct and delayed density-dependent factors had a significant impact on larval survival, larval development, and adult body size. These results indicate that control methods attempting to reduce mosquito populations may be counteracted by density-dependent population regulation. PMID:23669230

  20. Duration of breast feeding and risk of developmental delay in Taiwanese children: a nationwide birth cohort study.

    PubMed

    Chiu, Wan-Chun; Liao, Hua-Fang; Chang, Pei-Jen; Chen, Pau-Chung; Chen, Yi Chun

    2011-11-01

    The purpose of this study was to examine the relationship between duration of breast feeding and four developmental domains: gross motor, fine motor, language, and personal/social skills. This study included 14,621 infants from birth to 18 months of age. In the Taiwan Birth Cohort Study, four developmental screening items adapted from the Denver Development Screening Test were most appropriate for children aged 15 to 18 months. The proportion of young children who had mastered specific milestones increased consistently with longer duration of breast feeding. The adjusted odds ratios of the risk of developmental delay for the longest duration of breast feeding vs. never breast-fed were 0.69 [95% confidence interval (CI) 0.57, 0.83] for gross motor, 0.64 [95% CI 0.53, 0.77] for fine motor, 0.74 [95% CI 0.60, 0.91] for language, and 0.76 [95% CI 0.64, 0.90] for personal/social skills. Regardless of when the mothers returned to work, duration of breast feeding was found to have an inverse association with developmental delay in young children. The protection against developmental delays remained significant for those children who were breast-fed for more than 6 months. Children who were breast-fed for longer than 6 months had a lower risk of developmental delay than those who were never breast-fed. These data support the hypothesis that duration of breast feeding is positively related to young children's neurodevelopment. © 2011 Blackwell Publishing Ltd.

  1. Developmental delays at arrival, early intervention enrollment, and adopted Chinese girls' academic performance and internalizing problems in adolescence.

    PubMed

    Tan, Tony Xing

    2014-01-01

    The author investigated the extent of developmental delays in girls adopted from China, their subsequent early intervention (EI) enrollment, and how the delays and EI were related to their academic performance and internalizing problems in adolescence. The sample included 180 adolescent girls (M = 13.4 years, SD = 2.0 years) who were adopted at 3-23.5 months (M = 11.5 months, SD = 3.7 months). Data on the adopted Chinese girls' delays at arrival and EI enrollment in physical therapy (PT) and speech-language therapy (SLT) were collected from the adoptive mothers at the Baseline; data on the adopted Chinese girls' present academic performance and internalizing problems were collected from the adoptive mothers and adopted girls at Wave 4 six years later. Data analyses revealed that 55% of the adoptees had moderate-to-severe delays when first arrived at the adoptive homes. Motor delays significantly increased the odds for PT (odds ratio [OR] = 3.98, 95% CI [2.18, 7.82], p <.001) and SLT (OR = 2.36, 95% CI [1.50-3.72, p <.001). Social-cognitive delays also significantly increased the odds for PT (OR = 1.90, 95% CI [1.36, 2.63], p <.001) and SLT (OR = 1.63, 95% CI [1.22, 2.17], p <.001). Motor delays were negatively associated with academic performance but positively associated with internalizing problems. General linear modeling showed that the adoptees who had developmental delays at arrival and subsequently enrolled in EI scored significantly lower on academic performance than their peers who had delays but did not enroll in EI, as well their peers who had no delays and did not enroll in EI. Implications of these findings are discussed.

  2. Waterborne exposure to triadimefon causes thyroid endocrine disruption and developmental delay in Xenopus laevis tadpoles.

    PubMed

    Li, Meng; Li, Shuying; Yao, Tingting; Zhao, Renjie; Wang, Qiangwei; Zhu, Guonian

    2016-08-01

    Triadimefon (TDF) is a triazole-derivative fungicide that is detectable in the environment and target agricultural products, prompting concern over its risk to wildlife and human health. In our study, Nieuwkoop & Faber stage 51 Xenopus laevis tadpoles were exposed to different nominal concentrations TDF (0, 0.112, and 1.12mg/L) for 21 days while the tadpoles were undergoing pre-morphological development. Developmental condition, bioaccumulation and thyroid hormone levels, and mRNA expression of genes involved in the hypothalamic-pituitary-thyroid (HPT) axis were examined. Exposure to TDF caused a reduction in developmental rates on pre-metamorphosis of X. laevis. TDF exposure significantly decreased thyroid hormone (T4 and T3) concentrations, indicating thyroid endocrine disruption. The downregulation of thyroglobulin and upregulation of genes related to thyroid hormone metabolism (ugt1ab) might be responsible for the decreased thyroid hormone concentrations. Treatment with TDF also significantly increased mRNA expression of genes involved in thyroid-stimulating hormone as a compensatory mechanism response to decreased thyroid hormone concentrations. Gene expression and in silico ligand docking studies were combined to study the interaction between TDF and thyroid hormone receptor. Results showed that TDF could consequently affect the HPT axis signaling pathway. In addition, bioconcentration of TDF was observed in tadpoles, indicating the bioactivity of this compound. Taken together, the results suggest that TDF alters the HPT axis-related genes and changes thyroid hormone contents in X. laevis tadpoles, thus causing thyroid endocrine disruption and consequently delaying thyroid hormones-dependent metamorphic development.

  3. Risk and Prevalence of Developmental Delay in Young Children With Congenital Heart Disease

    PubMed Central

    Hoffmann, Raymond G.; Hoffman, George M.; Tweddell, James S.; Bear, Laurel; Cao, Yumei; Brosig, Cheryl

    2014-01-01

    BACKGROUND AND OBJECTIVE: Children with congenital heart disease (CHD) are at risk for developmental delay (DD). Changes in cognitive, language, and motor skills in early childhood have not been described. We report the results of a structured approach using longitudinal testing to identify problems and ensure early intervention in accordance with published guidelines. METHODS: Bayley Scales of Infant Development, Third Edition, were used to assess cognitive, language, and motor skills in 99 children with CHD. Subjects were evaluated 3 to 6 times in the first 3 years of life. DD was defined as scores >1 SD below the population mean. RESULTS: Cardiac anatomy was single ventricle (1V) in 34 subjects and 2 ventricles (2V) in 65. Medical comorbidities were present in 21% and genetic syndromes in 19%. Most subjects (75%) had DD in ≥1 area at ≥1 assessments. Subjects with 1V anatomy had equivalent outcomes to those with 2V. Cognitive and language scores declined in subjects with genetic syndromes but were stable and within the average range for subjects with 1V and 2V. Motor scores improved for subjects with 1V and 2V but remained low for those with genetic syndromes. In addition to age, need for supplemental tube feeding, longer cardiopulmonary bypass time, and shorter time since last hospitalization were significant predictors of developmental outcomes. CONCLUSIONS: DDs in young children with CHD are both common and dynamic. Providers should encourage longitudinal surveillance for children with CHD because exposure to risk and prevalence of DD change over time. PMID:24488746

  4. Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.

    PubMed

    Shimada, Shino; Maegaki, Yoshihiro; Osawa, Makiko; Yamamoto, Toshiyuki

    2014-02-01

    We identified mosaic 1p36 deletions in two patients with developmental delay, distinctive features, and obesity, who can walk alone and communicate with others. Thus, their neurological defects are milder than those in typical patients with 1p36 deletion syndrome because most patients with 1p36 deletion cannot acquire expressive language. Chromosomal microarray testing revealed 3.0 and 4.5 Mb aberrations in the subtelomeric region of the short arm of chromosome 1. Mean signal ratios of the identified aberrations were -0.4 and -0.5, indicating mosaicism, which was confirmed by fluorescence in situ hybridization analysis with a mosaic ratio of 70% and 77%, respectively. Previous studies demonstrated that deletion of the distal 2-3 Mb region would be responsible for hyperphagia and obesity seen in patients. On the other hand, the severity of the neurological defect often correlates with the size of the terminal deletion of 1p36, and patients with larger deletions of 1p36 would usually show severely impaired developmental milestones and be immobile and aphasic. In such cases, hyperphagia and obesity could be clinically masked. In this study, two patients with mosaic deletions of 1p36 showed obesity as a consequence of hyperphagia. This study suggests that patients with 1p36 deletion would be at risk for hyperphagia and obesity when they have both risk factors, that is, (1) deletions including the 2-3 Mb critical region and (2) milder phenotypes that allow them to reach food on their own and to overeat.

  5. Developmental delays and dental caries in low-income preschoolers in the USA: a pilot cross-sectional study and preliminary explanatory model

    PubMed Central

    2013-01-01

    Background Anecdotal evidence suggests that low-income preschoolers with developmental delays are at increased risk for dental caries and poor oral health, but there are no published studies based on empirical data. The purpose of this pilot study was two-fold: to examine the relationship between developmental delays and dental caries in low-income preschoolers and to present a preliminary explanatory model on the determinants of caries for enrollees in Head Start, a U.S. school readiness program for low-income preschool-aged children. Methods Data were collected on preschoolers ages 3–5 years at two Head Start centers in Washington, USA (N = 115). The predictor variable was developmental delay status (no/yes). The outcome variable was the prevalence of decayed, missing, and filled surfaces (dmfs) on primary teeth. We used multiple variable Poisson regression models to test the hypothesis that within a population of low-income preschoolers, those with developmental delays would have increased dmfs prevalence than those without developmental delays. Results Seventeen percent of preschoolers had a developmental delay and 51.3% of preschoolers had ≥1 dmfs. Preschoolers with developmental delays had a dmfs prevalence ratio that was 1.26 times as high as preschoolers without developmental delays (95% CI: 1.01, 1.58; P < .04). Other factors associated with increased dmfs prevalence ratios included: not having a dental home (P = .01); low caregiver education (P < .001); and living in a non-fluoridated community (P < .001). Conclusions Our pilot data suggest that developmental delays among low-income preschoolers are associated with increased primary tooth dmfs. Additional research is needed to further examine this relationship. Future interventions and policies should focus on caries prevention strategies within settings like Head Start classrooms that serve low-income preschool-aged children with additional targeted home- and community

  6. Mother-father differences in screening for developmental delay in infants and toddlers.

    PubMed

    Cepanec, Maja; Lice, Karolina; Simleša, Sanja

    2012-01-01

    In most cases, caregiver questionnaires are completed by mothers and seldom by fathers. Although parents tend to have moderate to high congruence, some studies suggest that differences between the mothers' and the fathers' answers can complicate diagnostic decision-making. The aim of this study was to determine mother-father response differences on a widely used screening checklist and to describe possible clinical implications of the observed differences. The Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist, a screening and evaluation tool, is commonly used in many countries to identify developmental delays in infants and toddlers. A Croatian version of the CSBS-DP checklist was completed by 422 parents (211 mothers and 211 fathers). The mean age of children was 15.4 months (6-24 months). Inter-rater reliability and mother-father differences were calculated. An item-by-item analysis was performed, and the relationship between the parental concern and the score a child achieved was also examined. Mothers and fathers did not differ in Total Scores (p=.165). Item-by-item analysis showed that the level of congruence between mothers' and fathers' scores was, on average, 78%. However, in 10-15% of cases, the parent scores placed a child in different clinical categories (above vs. below the cut-off score). In cases of discordance, fathers placed a child below criterion level more often than mothers, and this trend was more pronounced for girls than boys. The level of parental concern was found to be relatively low and not well balanced with the scores children achieved. Our findings suggest that the level of parental concern is not a very reliable indicator of delayed or deviant childhood development. Furthermore, in 10-15% of cases, parents differ in the extent to which their responses place a child in different clinical groups. The reader will: (1) recognize the importance of early communication skills assessment in infants and

  7. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

    PubMed

    Rauch, Anita; Hoyer, Juliane; Guth, Sabine; Zweier, Christiane; Kraus, Cornelia; Becker, Christian; Zenker, Martin; Hüffmeier, Ulrike; Thiel, Christian; Rüschendorf, Franz; Nürnberg, Peter; Reis, André; Trautmann, Udo

    2006-10-01

    The underlying cause of mental retardation remains unknown in up to 80% of patients. As chromosomal aberrations are the most common known cause of mental retardation, several new methods based on FISH, PCR, and array techniques have been developed over recent years to increase detection rate of subtle aneusomies initially of the gene rich subtelomeric regions, but nowadays also genome wide. As the reported detection rates vary widely between different reports and in order to compare the diagnostic yield of various investigations, we analyzed the diagnostic yield of conventional karyotyping, subtelomeric screening, molecular karyotyping, X-inactivation studies, and dysmorphological evaluation with targeted laboratory testing in unselected patients referred for developmental delay or mental retardation to our cytogenetic laboratory (n = 600) and to our genetic clinic (n = 570). In the cytogenetic group, 15% of patients showed a disease-related aberration, while various targeted analyses after dysmorphological investigation led to a diagnosis in about 20% in the genetic clinic group. When adding the patients with a cytogenetic aberration to the patient group seen in genetic clinic, an etiological diagnosis was established in about 40% of the combined study group. A conventional cytogenetic diagnosis was present in 16% of combined patients and a microdeletion syndrome was diagnosed in 5.3%, while subtelomeric screening revealed only 1.3% of causes. Molecular karyotyping with a 10 K SNP array in addition revealed 5% of underlying causes, but 29% of all diagnoses would have been detectable by molecular karyotyping. In those patients without a clear diagnosis, 5.6% of mothers of affected boys showed significant (>95%) skewing of X-inactivation suggesting X-linked mental retardation. The most common diagnoses with a frequency of more than 0.5% were Down syndrome (9.2%), common microdeletion 22q11.2 (2.4%), Williams-Beuren syndrome (1.3%), Fragile-X syndrome (1.2%), Cohen

  8. Developmental pathways to antisocial behavior: the delayed-onset pathway in girls.

    PubMed

    Silverthorn, P; Frick, P J

    1999-01-01

    Recent research has suggested that there are two distinct trajectories for the development of antisocial behavior in boys: a childhood-onset pathway and an adolescent-onset pathway. After reviewing the limited available research on antisocial girls, we propose that this influential method of conceptualizing the development of severe antisocial behavior may not apply to girls without some important modifications. Antisocial girls appear to show many of the correlates that have been associated with the childhood-onset pathway in boys, and they tend to show impaired adult adjustment, which is also similar to boys in the childhood-onset pathway. However, antisocial girls typically show an adolescent-onset to their antisocial behavior. We have proposed that these girls show a third developmental pathway which we have labeled the "delayed-onset" pathway. This model rests on the assumption that many of the putative pathogenic mechanisms that contribute to the development of antisocial behavior in girls, such as cognitive and neuropsychological deficits, a dysfunctional family environment, and/or the presence of a callous and unemotional interpersonal style, may be present in childhood, but they do not lead to severe and overt antisocial behavior until adolescence. Therefore, we propose that the delayed-onset pathway for girls is analogous to the childhood-onset pathway in boys and that there is no analogous pathway in girls to the adolescent-onset pathway in boys. Although this model clearly needs to be tested in future research, it highlights the need to test the applicability of current theoretical models for explaining the development of antisocial behavior in girls.

  9. Lethality and Developmental Delay in Drosophila melanogaster Larvae after Ingestion of Selected Pseudomonas fluorescens Strains

    PubMed Central

    Olcott, Marika H.; Henkels, Marcella D.; Rosen, Kise L.; L.Walker, Francesca; Sneh, Baruch; Loper, Joyce E.; Taylor, Barbara J.

    2010-01-01

    Background The fruit fly, Drosophila melanogaster, is a well-established model organism for probing the molecular and cellular basis of physiological and immune system responses of adults or late stage larvae to bacterial challenge. However, very little is known about the consequences of bacterial infections that occur in earlier stages of development. We have infected mid-second instar larvae with strains of Pseudomonas fluorescens to determine how infection alters the ability of larvae to survive and complete development. Methodology/Principal Findings We mimicked natural routes of infection using a non-invasive feeding procedure to study the toxicity of the three sequenced P. fluorescens strains (Pf0-1, SBW25, and Pf-5) to Drosophila melanogaster. Larvae fed with the three strains of P. fluorescens showed distinct differences in developmental trajectory and survival. Treatment with SBW25 caused a subset of insects to die concomitant with a systemic melanization reaction at larval, pupal or adult stages. Larvae fed with Pf-5 died in a dose-dependent manner with adult survivors showing eye and wing morphological defects. In addition, larvae in the Pf-5 treatment groups showed a dose-dependent delay in the onset of metamorphosis relative to control-, Pf0-1-, and SBW25-treated larvae. A functional gacA gene is required for the toxic properties of wild-type Pf-5 bacteria. Conclusions/Significance These experiments are the first to demonstrate that ingestion of P. fluorescens bacteria by D. melanogaster larvae causes both lethal and non-lethal phenotypes, including delay in the onset of metamorphosis and morphological defects in surviving adult flies, which can be decoupled. PMID:20856932

  10. The activation of visual face memory and explicit face recognition are delayed in developmental prosopagnosia.

    PubMed

    Parketny, Joanna; Towler, John; Eimer, Martin

    2015-08-01

    Individuals with developmental prosopagnosia (DP) are strongly impaired in recognizing faces, but the causes of this deficit are not well understood. We employed event-related brain potentials (ERPs) to study the time-course of neural processes involved in the recognition of previously unfamiliar faces in DPs and in age-matched control participants with normal face recognition abilities. Faces of different individuals were presented sequentially in one of three possible views, and participants had to detect a specific Target Face ("Joe"). EEG was recorded during task performance to Target Faces, Nontarget Faces, or the participants' Own Face (which had to be ignored). The N250 component was measured as a marker of the match between a seen face and a stored representation in visual face memory. The subsequent P600f was measured as an index of attentional processes associated with the conscious awareness and recognition of a particular face. Target Faces elicited reliable N250 and P600f in the DP group, but both of these components emerged later in DPs than in control participants. This shows that the activation of visual face memory for previously unknown learned faces and the subsequent attentional processing and conscious recognition of these faces are delayed in DP. N250 and P600f components to Own Faces did not differ between the two groups, indicating that the processing of long-term familiar faces is less affected in DP. However, P600f components to Own Faces were absent in two participants with DP who failed to recognize their Own Face during the experiment. These results provide new evidence that face recognition deficits in DP may be linked to a delayed activation of visual face memory and explicit identity recognition mechanisms.

  11. The effects of early positive parenting and developmental delay status on child emotion dysregulation.

    PubMed

    Norona, A N; Baker, B L

    2017-02-01

    Emotion regulation has been identified as a robust predictor of adaptive functioning across a variety of domains (Aldao et al. ). Furthermore, research examining early predictors of competence and deficits in ER suggests that factors internal to the individual (e.g. neuroregulatory reactivity, behavioural traits and cognitive ability) and external to the individual (e.g. caregiving styles and explicit ER training) contribute to the development of ER (Calkins ). Many studies have focused on internal sources or external sources; however, few have studied them simultaneously within one model, especially in studies examining children with developmental delays (DD). Here, we addressed this specific research gap and examined the contributions of one internal factor and one external factor on emotion dysregulation outcomes in middle childhood. Specifically, our current study used structural equation modelling (SEM) to examine prospective, predictive relationships between DD status, positive parenting at age 4 years and child emotion dysregulation at age 7 years. Participants were 151 families in the Collaborative Family Study, a longitudinal study of young children with and without DD. A positive parenting factor was composed of sensitivity and scaffolding scores from mother-child interactions at home and in the research centre at child age 4 years. A child dysregulation factor was composed of a dysregulation code from mother-child interactions and a parent-report measure of ER and lability/negativity at age 7 years. Finally, we tested the hypothesis that positive parenting would mediate the relationship between DD and child dysregulation. Mothers of children with DD exhibited fewer sensitive and scaffolding behaviours compared with mothers of typically developing children, and children with DD were more dysregulated on all measures of ER. SEM revealed that both DD status and early positive parenting predicted emotion dysregulation in middle childhood. Furthermore

  12. Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

    PubMed

    Stavber, Lana; Bertok, Sara; Kovač, Jernej; Volk, Marija; Lovrečić, Luca; Battelino, Tadej; Hovnik, Tinka

    2017-01-01

    The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17. The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity. Main dysmorphic features included: round face, microstomia, small chin, down-slanting palpebral fissures and small lobules of both ears. At present, her developmental abilities are still delayed for her chronological age but she is making evident progress with speech. A postnatal array comparative genomic hybridization showed a 2.31 Mb genomic gain indicating microduplication derived from pericentric regions q11.1 and q11.2 of chromosome 17. Additional conventional cytogenetic analysis from peripheral blood characterized the karyotype as 47,XX,+mar in a non-mosaic form. The location of microduplication was confirmed with fluorescence in situ hybridization. The proband's microduplication encompassed approximately 40 annotated genes, several of which have been associated with phenotypic characteristics of the proband. This is the first report of sSMC 17 including this particular chromosomal region in non-mosaic form.

  13. Influence of kindergarten on numbers of multiple developmental delays in preschoolers: an analysis over 14 years.

    PubMed

    Stich, Heribert Ludwig; Caniato, Riccardo N; Krämer, Alexander; Baune, Bernhard

    2017-06-01

    The aim of the study was to calculate the impact that the duration of attendance and the location of the kindergarten (rural versus urban) has on the prevalence of multiple delays in preschool children. We analyzed data from 14,068 preschool children, over a period of 14 consecutive years (1997-2010) from the Bavarian Pre-School Morbidity Survey using software package SPSS 21.0. We assessed the incidence of multiple developmental impairments (twofold or above) in various developmental domains. The highest prevalence for multiple delays in development existed for twofold impairments in the area of motor (7.9 %) and lowest in fivefold delays in cognition (0.4 %). A shorter duration of visiting a kindergarten (OR: 4.43) and an urban location (OR: 2.53) was associated with an increased risk of multiple delays in development. A shorter duration and an urban location of kindergarten attendance are associated with an increased risk for children having multiple developmental impairments. From a public health perspective, the setting and duration of kindergarten attendance may be an important focus in preventive efforts to optimize health outcomes in children.

  14. [Association between neontal morbidity, gestational age and developmental delays in moderate to late preterm children].

    PubMed

    Schonhaut, Luisa; Pérez, Marcela; Muñoz, Sergio

    2015-01-01

    There is evidence that children born moderate-to-late preterm (MLP) have a higher risk of hospitalisation, neonatal morbidity, and developmental delay (DD). To determine the association between DD, gestational age, and neonatal morbidity in MLP children. A case control study design nested in a cohort of MLP children born between 2006 and 2009 at a private hospital located in the Metropolitan area of Santiago. The children were assessed with the Bayley-III Scales of Infant Development at 8 or 18 months corrected age, or at 30 months of chronological age. Neonatal records were retrospectively reviewed. A multivariate analysis was performed to determine the effect of neonatal morbidity on development. A total of 130 MLP children, 25 cases and 105 controls, were studied. Most of them (83.8%) were hospitalised during the neonatal period. Significant differences between cases and controls regarding maternal age and symptomatic hypoglycaemia were observed (crude OR 3.5, adjusted OR 8.18). It was concluded that the variables that negatively affect the rate of development are male gender, being a twin, and gestational age. Symptomatic hypoglycaemia is the main risk factor for DD, while being a twin, male gender, and gestational age influenced the total development rate obtained. It is essential to develop strategies for prevention, screening, and early management of this metabolic disorder to prevent future DD. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation

    PubMed Central

    Fang, Hezhi; Shi, Hao; Li, Xiyuan; Sun, Dayan; Li, Fengjie; Li, Bin; Ding, Yuan; Ma, Yanyan; Liu, Yupeng; Zhang, Yao; Shen, Lijun; Bai, Yidong; Yang, Yanling; Lu, Jianxin

    2015-01-01

    The aim of this study was to evaluate the contribution of mitochondrial DNA (mtDNA) mutations in oxidative phosphorylation (OXPHOS) deficiency. The complete mitochondrial genomes of 41 families with OXPHOS deficiency were screened for mutations. Mitochondrial functional analysis was then performed in primary and cybrid cells containing candidate mutations identified during the screening. A novel mitochondrial NADH dehydrogenase 5 (ND5) m.12955A > G mutation was identified in a patient with exercise intolerance and developmental delay. A biochemical analysis revealed deficiencies in the activity of complex I (NADH:quinone oxidoreductase) and IV (cytochrome c oxidase) of this patient. Defects in complexes I and IV were confirmed in transmitochondrial cybrid cells containing the m.12955A > G mutation, suggesting that this mutation impairs complex I assembly, resulting in reduced stability of complex IV. Further functional investigations revealed that mitochondria with the m.12955A > G mutation exhibited lower OXPHOS coupling respiration and adenosine triphosphate (ATP) generation. In addition, the cytotoxic effects, determined as reactive oxygen species (ROS) and lactate levels in the present study, increased in the cells carrying a higher m.12955A > G mutant load. In conclusion, we identified m.12955A > G as a mitochondrial disease-related mutation. Therefore, screening of m.12955A > G is advised for the diagnosis of patients with mitochondrial disease. PMID:26014388

  16. Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

    PubMed Central

    Kim, Myungjin; Sandford, Erin; Gatica, Damian; Qiu, Yu; Liu, Xu; Zheng, Yumei; Schulman, Brenda A; Xu, Jishu; Semple, Ian; Ro, Seung-Hyun; Kim, Boyoung; Mavioglu, R Nehir; Tolun, Aslıhan; Jipa, Andras; Takats, Szabolcs; Karpati, Manuela; Li, Jun Z; Yapici, Zuhal; Juhasz, Gabor; Lee, Jun Hee; Klionsky, Daniel J; Burmeister, Margit

    2016-01-01

    Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (ATG) genes have been reported in human patients to date. We identified a homozygous missense mutation, changing a conserved amino acid, in ATG5 in two siblings with congenital ataxia, mental retardation, and developmental delay. The subjects' cells display a decrease in autophagy flux and defects in conjugation of ATG12 to ATG5. The homologous mutation in yeast demonstrates a 30-50% reduction of induced autophagy. Flies in which Atg5 is substituted with the mutant human ATG5 exhibit severe movement disorder, in contrast to flies expressing the wild-type human protein. Our results demonstrate the critical role of autophagy in preventing neurological diseases and maintaining neuronal health. DOI: http://dx.doi.org/10.7554/eLife.12245.001 PMID:26812546

  17. Paternal versus maternal coping styles with child diagnosis of developmental delay.

    PubMed

    Barak-Levy, Yael; Atzaba-Poria, Na'ama

    2013-06-01

    Parents of children with disabilities vary in their reaction to their children's diagnosis. The current study focused on fathers in addition to mothers and examined their resolution and coping styles when having children diagnosed with developmental delay (DD). Sixty-five fathers and 71 mothers were interviewed using the reaction to the diagnosis interview (RDI; Pianta & Marvin, 1992a). Results indicated that the majority of parents were unresolved with their child's diagnosis, with no differences found between fathers' and mothers' rates of resolution. Furthermore, both parents of children that were diagnosed at a later age and parents that were less educated tended to be unresolved, as did fathers of a lower socioeconomic status. Older age of both children and mothers was related to maternal lack of resolution. Finally, an in-depth examination revealed significant differences in the manner in which fathers and mothers cope with their children's diagnosis: whereas mothers were more prone to using an emotional coping style, fathers tended to use a cognitive coping style. The clinical implications of paternal versus maternal coping styles are discussed. Copyright © 2013 Elsevier Ltd. All rights reserved.

  18. The transactional relationship between parenting and emotion regulation in children with or without developmental delays.

    PubMed

    Norona, Amanda N; Baker, Bruce L

    2014-12-01

    Researchers have identified numerous internal and external factors that contribute to individual differences in emotion regulation (ER) abilities. To extend these findings, we examined the longitudinal effects of a significant external predictor (parenting) on children's ER abilities in the context of an internal predictor (intellectual functioning). We used cross-lagged panel modeling to investigate the transactional relationship between parenting and ER in children with or without developmental delays (DD) across three time points in early and middle childhood (age 3, 5, and 8). Participants were 225 families in the Collaborative Family Study, a longitudinal study of young children with or without DD. Child ER ability and maternal scaffolding skills were coded from mother-child interactions at ages 3, 5, and 8. Compared to children with typical development (TD), children with DD were significantly more dysregulated at all time points, and their mothers exhibited fewer scaffolding behaviors in early childhood. In addition, cross-lagged panel models revealed a significant bidirectional relationship between maternal scaffolding and ER from ages 3 to 5 in the DD group but not the TD group. These findings suggest that scaffolding may be a crucial parenting skill to target in the early treatment of children with ER difficulties.

  19. Effect of the full moon on a sample of developmentally delayed, institutionalized women.

    PubMed

    Hicks-Caskey, W E; Potter, D R

    1991-06-01

    Over 19 lunar months reports of all aggressive acting-out misbehaviors as recorded by direct-care staff were evaluated and recorded on a day-by-day basis for a randomly selected sample of 20 developmentally delayed women, CA 18 to 50; MA, 9 to 18 months. All had been in continuous residence in a residential treatment center for a minimum of 31 months. A grid representing the 24-hr. period of the full moon (a), the three days prior to the day of the full moon (b), the three days after the full moon (c), and the balance of the lunar period (d) was placed over the record. Comparisons using the Duncan multiple-range test indicated that the mean number of misbehaviors on the day of the full moon was significantly higher than the mean number on any other day of the lunar period (the next highest was for the three days prior to the day of the full moon).

  20. Neuroimaging studies in the evaluation of developmental delay/mental retardation.

    PubMed

    Battaglia, Agatino

    2003-02-15

    The employment of neuroimaging studies in the evaluation of individuals with developmental delay/mental retardation (DD/MR) is still highly debated. The Consensus Conference of the American College of Medical Genetics has suggested that "neuroimaging appears to have an especially important role in patients with microcephaly or macrocephaly, seizures, loss of psychomotor skills and neurologic signs," whereas the value of neuroimaging investigations "in the normocephalic patient without focal neurological signs is unclear" [Curry et al., 1997]. However, recent literature reports show how the latest neuroimaging techniques (in vivo proton magnetic resonance spectroscopy [H-MRS]) may prove to be useful in the diagnostic process of those individuals with DD/MR and no neurological signs/symptoms. The use of these techniques can, in addition, help in monitoring treatment in distinct metabolic disorders. This review will focus on the usefulness of neuroimaging studies in some of the newer metabolic disorders. This paper will also cover those recognizable patterns of human malformation where neuroimaging findings seem to be relevant both toward diagnosis and management, and add to our understanding of the related behavior phenotype. The essential role of magnetic resonance imaging (MRI) on the progress in the diagnostic recognition of malformations of cerebral cortical development is stressed.

  1. 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

    PubMed

    Shimojima, Keiko; Narai, Satoshi; Togawa, Masami; Doumoto, Tomotsune; Sangu, Noriko; Vanakker, Olivier M; de Paepe, Anne; Edwards, Matthew; Whitehall, John; Brescianini, Sally; Petit, Florence; Andrieux, Joris; Yamamoto, Toshiyuki

    2016-10-01

    There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. The shortest region of overlap within the 7p22.1 region includes five genes, FBXL18, ACTB, FSCN1, RNF216, and ZNF815P. Of these genes, only ACTB is known to be associated with an autosomal dominant trait. Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. We analyzed ACTB expression in immortalized lymphocytes derived from one of the patients and found that it was reduced to approximately half that observed in controls. This indicates that ACTB expression is linearly correlated with the gene copy number. We suggest that haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.

  2. Efficacy of Intensive Neurodevelopmental Treatment for Children With Developmental Delay, With or Without Cerebral Palsy.

    PubMed

    Lee, Kyoung Hwan; Park, Jin Woo; Lee, Ho Jun; Nam, Ki Yeun; Park, Tae June; Kim, Hee Jae; Kwon, Bum Sun

    2017-02-01

    To evaluate the effectiveness of intensive neurodevelopmental treatment (NDT) on gross motor function for the children having developmental delay (DD), with or without cerebral palsy (CP). Forty-two children had intensive NDT three times weekly, 60 minutes a day, for 3 months, immediately followed by conventional NDT once or twice a week, 30 minutes a day, for another 3 months. We assessed Gross Motor Function Measure (GMFM) over three time points: before conventional NDT, before and after intensive NDT, and after 3 months of additional conventional NDT. The GMFM score in DD children significantly improved after intensive NDT, and the improvement maintained after 3 months of conventional NDT (p<0.05). The children were further divided into two groups: DD with CP and DD without CP. Both groups showed significant improvement and maintained the improvements, after intensive NDT (p<0.05). Also, there was no significant difference in treatment efficacy between the two groups. When we calculate the absence rate for comparing the compliance between intensive and conventional NDT, the absence rate was lower during the intensive NDT. Intensive NDT showed significantly improved gross motor function and higher compliance than conventional NDT. Additionally, all improvements were maintained through subsequent short-term conventional NDT. Thus, we recommend the intensive NDT program by day-hospital centers for children with DD, irrespective of accompanying CP.

  3. Efficacy of Intensive Neurodevelopmental Treatment for Children With Developmental Delay, With or Without Cerebral Palsy

    PubMed Central

    2017-01-01

    Objective To evaluate the effectiveness of intensive neurodevelopmental treatment (NDT) on gross motor function for the children having developmental delay (DD), with or without cerebral palsy (CP). Methods Forty-two children had intensive NDT three times weekly, 60 minutes a day, for 3 months, immediately followed by conventional NDT once or twice a week, 30 minutes a day, for another 3 months. We assessed Gross Motor Function Measure (GMFM) over three time points: before conventional NDT, before and after intensive NDT, and after 3 months of additional conventional NDT. Results The GMFM score in DD children significantly improved after intensive NDT, and the improvement maintained after 3 months of conventional NDT (p<0.05). The children were further divided into two groups: DD with CP and DD without CP. Both groups showed significant improvement and maintained the improvements, after intensive NDT (p<0.05). Also, there was no significant difference in treatment efficacy between the two groups. When we calculate the absence rate for comparing the compliance between intensive and conventional NDT, the absence rate was lower during the intensive NDT. Conclusion Intensive NDT showed significantly improved gross motor function and higher compliance than conventional NDT. Additionally, all improvements were maintained through subsequent short-term conventional NDT. Thus, we recommend the intensive NDT program by day-hospital centers for children with DD, irrespective of accompanying CP. PMID:28289640

  4. Child health and parental stress in school-age children with a preschool diagnosis of developmental delay.

    PubMed

    Webster, Richard I; Majnemer, Annette; Platt, Robert W; Shevell, Michael I

    2008-01-01

    Chronic disorders are known to have a wide-ranging impact on overall health and family dynamics. The objective of this study was to assess child health and well-being and parental stress in a cohort of school-age children diagnosed before school entry with either global developmental delay or developmental language impairment. In total, 65 children with preschool developmental delay were assessed at school age (mean +/- SD age: 7.3 +/- 0.7 years) with the Child Health Questionnaire and Parenting Stress Index, with a mean interval between assessment of 3.9 years. Almost all children who completed testing (60/62) continued to show developmental impairments across domains. On the Child Health Questionnaire, children showed the greatest impairment on the mental health scale (median z score: -0.9). The median Child Health Questionnaire psychosocial health score (40.7) was almost 1 SD below established normative values ( P < .001). More than 40% of parents had a Parenting Stress Index above the 85th percentile (clinically significant parenting stress). Using multiple linear regression analysis, high levels of parenting stress were best predicted by a child's Child Health Questionnaire psychosocial health score (r2 = 0.49, P < .001). Thus, 4 years after a preschool-age diagnosis of developmental delay, poor psychosocial health was a common comorbidity. Almost half the parents showed clinically significant levels of parenting stress. There is a need to both recognize and provide ongoing social and emotional support for young children diagnosed with developmental disability and their families.

  5. Quantifying stochasticity in the dynamics of delay-coupled semiconductor lasers via forbidden patterns.

    PubMed

    Tiana-Alsina, Jordi; Buldú, Javier M; Torrent, M C; García-Ojalvo, Jordi

    2010-01-28

    We quantify the level of stochasticity in the dynamics of two mutually coupled semiconductor lasers. Specifically, we concentrate on a regime in which the lasers synchronize their dynamics with a non-zero lag time, and the leader and laggard roles alternate irregularly between the lasers. We analyse this switching dynamics in terms of the number of forbidden patterns of the alternate time series. The results reveal that the system operates in a stochastic regime, with the level of stochasticity decreasing as the lasers are pumped further away from their lasing threshold. This behaviour is similar to that exhibited by a single semiconductor laser subject to external optical feedback, as its dynamics shifts from the regime of low-frequency fluctuations to coherence collapse. This journal is © 2010 The Royal Society

  6. Quantifying the line-of-sight mass distributions for time-delay lenses with stellar masses

    NASA Astrophysics Data System (ADS)

    Rusu, Cristian; Fassnacht, Chris; Treu, Tommaso; Suyu, Sherry; Auger, Matt; Koopmans, Leon; Marshall, Phil; Wong, Kenneth; Collett, Thomas; Agnello, Adriano; Blandford, Roger; Courbin, Frederic; Hilbert, Stefan; Meylan, Georges; Sluse, Dominique

    2014-12-01

    Measuring cosmological parameters with a realistic account of systematic uncertainties is currently one of the principal challenges of physical cosmology. Building on our recent successes with two gravitationally lensed systems, we have started a program to achieve accurate cosmographic measurements from five gravitationally lensed quasars. We aim at measuring H_0 with an accuracy better than 4%, comparable to but independent from measurements by current BAO, SN or Cepheid programs. The largest current contributor to the error budget in our sample is uncertainty about the line-of-sight mass distribution and environment of the lens systems. In this proposal, we request wide-field u-band imaging of the only lens in our sample without already available Spitzer/IRCA observations, B1608+656. The proposed observations are critical for reducing these uncertainties by providing accurate redshifts and in particular stellar masses for galaxies in the light cones of the target lens system. This will establish lensing as a powerful and independent tool for determining cosmography, in preparation for the hundreds of time-delay lenses that will be discovered by future surveys.

  7. Acute Retinal Necrosis Presenting in Developmentally-delayed Patients with Neonatal Encephalitis: A Case Series and Literature Review.

    PubMed

    Okafor, Kingsley; Lu, Jonathan; Thinda, Sumeer; Schwab, Ivan; Morse, Lawrence S; Park, Susanna S; Moshiri, Ala

    2016-05-18

    We report three cases of patients with developmental-delay from neonatal herpetic encephalitis and/or meningitis who presented years later with acute retinal necrosis due to herpes simplex virus. The diagnosis was delayed in all cases due to the patients' inability to verbalize their ocular complaints and cooperate with eye examinations. This case series documents the clinical course, pathophysiologic mechanism, and treatment of acute retinal necrosis in this patient population. Clinicians should understand the importance of prudent consideration of acute retinal necrosis in patients with a history of neonatal herpetic encephalitis and/or meningitis presenting with a red eye.

  8. Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.

    PubMed

    Kim, Na Ri; Jang, Ja-Hyun; Jeon, Ga Won; Cho, Eun-Hae; Sin, Jong Beom

    2016-01-01

    Andersen-Tawil syndrome is a rare autosomal dominant disease characterized by the clinical triad of periodic paralysis, long QT with ventricular arrhythmias, and dysmorphic facial or skeletal features. However, the phenotypic heterogeneity and poor disease awareness of this syndrome can hinder an accurate and timely diagnosis. In this study, we describe a Korean family with Andersen-Tawil syndrome with a G215D mutation of the KCNJ2 gene revealed by diagnostic exome sequencing. Two sisters had severe growth restriction, characteristic facial anomalies, and developmental delay. The father carried the same mutation with similar characteristic facial features and short stature. This family lacked periodic paralysis. This report highlights the importance of an exome study for unusual clinical manifestations, such as preand postnatal growth restriction, developmental delay, and the lack of a critical diagnostic clue, such as periodic paralysis.

  9. Symbolic Play of Preschoolers with Severe Communication Impairments with Autism and Other Developmental Delays: More Similarities than Differences

    PubMed Central

    Brady, Nancy C.; Fleming, Kandace K.

    2011-01-01

    Children with autism are often described as having deficient play skills, particularly symbolic play. We compared the play of 35 children with autism to 38 children with other developmental delays. All children were preschool-age and produced less than 20 different words. Results indicated no significant differences across the two groups in their play. Children with autism engaged in more conventional play, that is, putting objects together according to how the toys were constructed (e.g., pieces in a puzzle, lid on a teapot). Results also indicated high correlations between play, language, and cognitive measures. Findings indicate that play relates to language and cognitive levels yet may not discriminate children with autism and children with other developmental delays early in their development. PMID:21720725

  10. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.

    PubMed

    Hladilkova, Eva; Barøy, Tuva; Fannemel, Madeleine; Vallova, Vladimira; Misceo, Doriana; Bryn, Vesna; Slamova, Iva; Prasilova, Sarka; Kuglik, Petr; Frengen, Eirik

    2015-01-01

    We report two unrelated patients with overlapping chromosome 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, microcephaly and mild dysmorphic facial features, and patient 2 with autism spectrum disorder, borderline cognitive abilities, deficits in attention and executive functions and mild dysmorphic facial features. The mother and maternal grandmother of patient 1 were healthy carriers of the deletion. Previously, 2q13 deletions were reported in 27 patients, and the interpretation of its clinical significance varied. Our findings support that the 2q13 deletion is associated with a developmental delay syndrome manifesting with variable expressivity and reduced penetrance which poses a challenge for genetic counselling as well as the clinical recognition of 2q13 deletion patients.

  11. Symbolic play of preschoolers with severe communication impairments with autism and other developmental delays: more similarities than differences.

    PubMed

    Thiemann-Bourque, Kathy S; Brady, Nancy C; Fleming, Kandace K

    2012-05-01

    Children with autism are often described as having deficient play skills, particularly symbolic play. We compared the play of 35 children with autism to 38 children with other developmental delays. All children were preschool-age and produced less than 20 different words. Results indicated no significant differences across the two groups in their play. Children with autism engaged in more conventional play, that is, putting objects together according to how the toys were constructed (e.g., pieces in a puzzle, lid on a teapot). Results also indicated high correlations between play, language, and cognitive measures. Findings indicate that play relates to language and cognitive levels yet may not discriminate children with autism and children with other developmental delays early in their development.

  12. The effects of bispectral index monitoring on hemodynamics and recovery profile in developmentally delayed pediatric patients undergoing dental surgery.

    PubMed

    Sargin, Mehmet; Uluer, Mehmet Selcuk; Ozmen, Sadık

    2015-09-01

    General anesthesia is often preferred for dental surgery or rehabilitation in developmentally delayed pediatric patients. Bispectral index monitoring is used to monitor the depth of anesthesia and to ensure early recovery. However, studies on the topic in developmentally delayed pediatric patients are limited. To evaluate the effects of Bispectral Index Scale (BIS) on hemodynamics and recovery profile in developmentally delayed pediatric patients undergoing dental surgery. Forty children between the ages of 6-16 years were studied in this prospective and randomized study. The children were randomized into two groups. In Group 1 (n = 20), general anesthesia was maintained with 1-2 minimum alveolar concentration (MAC) of sevoflurane in oxygen by standard practice. In Group 2 (n = 20), the depth of anesthesia was monitored by BIS. BIS values were continuously recorded from awake status to tracheal extubation. The duration of the surgical procedure, anesthesia, postanesthesia care unit (PACU) stay was noted. To evaluate recovery profile, time to spontaneous ventilation, extubation, open eyes, and PACU discharge were also noted. There were significant differences between recovery times and Non-communicating Children's Pain Checklist - Postoperative Version (NCCPC-PV) scores of two groups. Time to spontaneous ventilation [Difference in means (95% CI); 3.17 (1.79-4.54) P < 0.001], extubation [Difference in means (95% CI); 3.13 (1.66-4.60) P < 0.001], open eyes [Difference in means (95% CI); 3.97 (2.34-5.59) P < 0.001], and PACU stay time [Difference in means (95% CI); 23.55 (18.08-29.01) P < 0.001] were significantly shorter in Group 2. In conclusion, results suggest that routine BIS monitoring may be beneficial due to its favorable effects on the recovery profile in developmentally delayed pediatric patients. © 2015 John Wiley & Sons Ltd.

  13. The Impact of Short-Term Video Games on Performance among Children with Developmental Delays: A Randomized Controlled Trial

    PubMed Central

    Hsieh, Ru-Lan; Lee, Wen-Chung; Lin, Jui-Hsiang

    2016-01-01

    This prospective, randomized controlled study investigated the effects of short-term interactive video game playing among children with developmental delays participating in traditional rehabilitation treatment at a rehabilitation clinic. One hundred and one boys and 46 girls with a mean age of 5.8 years (range: 3 to 12 years) were enrolled in this study. All patients were confirmed to suffer from developmental delays, and were participating in traditional rehabilitation treatment. Children participated in two periods of 4 weeks each, group A being offered intervention of eight 30-minute sessions of interactive video games in the first period, and group B in the second, in addition to the traditional rehabilitation treatment. The physical, psychosocial, and total health of the children was periodically assessed using the parent-reported Pediatric Quality of Life Inventory-Generic Core Scales (PedsQL); and the children’s upper extremity and physical function, transfer and basic mobility, sports and physical functioning, and global functioning were assessed using the Pediatric Outcomes Data Collection Instrument. Parental impact was evaluated using the PedsQL-Family Impact Module for family function, PedsQL-Health Satisfaction questionnaire for parents’ satisfaction with their children’s care and World Health Organization-Quality of Life-Brief Version for quality of life. Compared with the baseline, significant improvements of physical function were observed in both groups (5.6 ± 19.5, p = 0.013; 4.7 ± 13.8, p = 0.009) during the intervention periods. No significant improvement of psychosocial health, functional performance, or family impact was observed in children with developmental delays. Short-term interactive video game play in conjunction with traditional rehabilitation treatment improved the physical health of children with developmental delays. Trial Registration: ClinicalTrials.gov NCT02184715 PMID:26983099

  14. The Impact of Short-Term Video Games on Performance among Children with Developmental Delays: A Randomized Controlled Trial.

    PubMed

    Hsieh, Ru-Lan; Lee, Wen-Chung; Lin, Jui-Hsiang

    2016-01-01

    This prospective, randomized controlled study investigated the effects of short-term interactive video game playing among children with developmental delays participating in traditional rehabilitation treatment at a rehabilitation clinic. One hundred and one boys and 46 girls with a mean age of 5.8 years (range: 3 to 12 years) were enrolled in this study. All patients were confirmed to suffer from developmental delays, and were participating in traditional rehabilitation treatment. Children participated in two periods of 4 weeks each, group A being offered intervention of eight 30-minute sessions of interactive video games in the first period, and group B in the second, in addition to the traditional rehabilitation treatment. The physical, psychosocial, and total health of the children was periodically assessed using the parent-reported Pediatric Quality of Life Inventory-Generic Core Scales (PedsQL); and the children's upper extremity and physical function, transfer and basic mobility, sports and physical functioning, and global functioning were assessed using the Pediatric Outcomes Data Collection Instrument. Parental impact was evaluated using the PedsQL-Family Impact Module for family function, PedsQL-Health Satisfaction questionnaire for parents' satisfaction with their children's care and World Health Organization-Quality of Life-Brief Version for quality of life. Compared with the baseline, significant improvements of physical function were observed in both groups (5.6 ± 19.5, p = 0.013; 4.7 ± 13.8, p = 0.009) during the intervention periods. No significant improvement of psychosocial health, functional performance, or family impact was observed in children with developmental delays. Short-term interactive video game play in conjunction with traditional rehabilitation treatment improved the physical health of children with developmental delays. ClinicalTrials.gov NCT02184715.

  15. Risk of Developmental Delay Increases Exponentially as Gestational Age of Preterm Infants Decreases: A Cohort Study at Age 4 Years

    ERIC Educational Resources Information Center

    Kerstjens, Jorien M.; de Winter, Andrea F.; Bocca-TJeertes, Inger F.; Bos, Arend F.; Reijneveld, Sijmen A.

    2012-01-01

    Aim: The aim of the study was to assess the influence of decreasing gestational age on the risk of developmental delay in various domains at age 4 years among children born at a wide range of gestational ages. Method: In a community-based cohort, the parents of 1439 preterm-born children (24 0/7 to 35 6/7wks) and 544 term-born children (38 0/7 to…

  16. Risk of Developmental Delay Increases Exponentially as Gestational Age of Preterm Infants Decreases: A Cohort Study at Age 4 Years

    ERIC Educational Resources Information Center

    Kerstjens, Jorien M.; de Winter, Andrea F.; Bocca-TJeertes, Inger F.; Bos, Arend F.; Reijneveld, Sijmen A.

    2012-01-01

    Aim: The aim of the study was to assess the influence of decreasing gestational age on the risk of developmental delay in various domains at age 4 years among children born at a wide range of gestational ages. Method: In a community-based cohort, the parents of 1439 preterm-born children (24 0/7 to 35 6/7wks) and 544 term-born children (38 0/7 to…

  17. Parent Training for Children With or at Risk for Developmental Delay: The Role of Parental Homework Completion.

    PubMed

    Ros, Rosmary; Hernandez, Jennifer; Graziano, Paulo A; Bagner, Daniel M

    2016-01-01

    This study investigated the extent to which parental homework completion during behavioral parent training (BPT) for children with or at risk for developmental delay contributed to parenting and child outcomes. Parents of 48 children (Mage=44.17 months, SD=14.29; 73% male; 72% White) with developmental delay (IQ<75) or at risk for developmental delay (due to premature birth) with co-occurring clinically elevated externalizing behavior problems received Parent-Child Interaction Therapy (PCIT) as part of two previously completed randomized controlled trials. Parental homework completion was measured using parental report of home practice of treatment skills collected weekly by therapists. Parents also reported on child externalizing behavior problems and levels of parenting stress, while parenting skills were observed during a 5-min child directed play and child compliance was observed during a 5-min cleanup situation. Results indicated that higher rates of parental homework completion predicted parenting outcomes (i.e., increased positive parenting skills and decreased levels of parenting stress) and child outcomes (i.e., lower levels of externalizing behavior problems). Additionally, although limited by temporal precedence, there was an indirect effect of reductions in parenting stress on the negative association between parental homework completion and child externalizing behavior problems. These findings highlight the importance of parents practicing skills learned during BPT for optimizing treatment outcome. Parenting stress was also identified as a potential mechanism by which high levels of parental homework completion contributed to reductions in child externalizing behavior problems. Copyright © 2015. Published by Elsevier Ltd.

  18. Barriers to Success in Parent Training for Young Children With Developmental Delay: The Role of Cumulative Risk

    PubMed Central

    Bagner, Daniel M.; Graziano, Paulo A.

    2015-01-01

    The purpose of this study was to examine the effect of cumulative risk on dropout and treatment outcome in parent training. Participants were 44 families of young children (mean age of 49.59 months) who presented with elevated externalizing behavior problems and developmental delay or borderline developmental delay. All families were offered to receive Parent–Child Interaction Therapy (PCIT), an evidence-based, behavioral parent-training intervention, at a hospital-based outpatient clinic. Cumulative risk was calculated as a sum of risk variables, including socioeconomic disadvantage (poverty, low maternal education), family structure (single-parent household), and maternal risk characteristics (minority status, lower intelligence, and parental distress). Families with higher cumulative risk scores, especially those with three or more risks, were more likely to drop out of treatment and display diminished treatment response in child behavior and parenting skills compared with families with lower cumulative risk scores. However, only two individual risk factors (i.e., minority status and family structure) predicted dropout, and one individual risk factor (i.e., maternal education) predicted outcome. These findings suggest that it can be useful to conceptualize risk factors as having a cumulative, in addition to individual, influence on parent-training interventions for children with developmental delay and have significant implications for clinical practice. It is important for clinicians to regularly assess for risk factors, and future research should examine ways in which clinicians can improve retention and outcome of parent training in the presence of multiple risk factors. PMID:23188886

  19. Microstructural callosal abnormalities in normal-appearing brain of children with developmental delay detected with diffusion tensor imaging.

    PubMed

    Ding, Xiao-Qi; Sun, Yimeng; Kruse, Bernd; Illies, Till; Zeumer, Hermann; Fiehler, Jens; Lanfermann, Heinrich

    2009-06-01

    Callosal fibres play an important role in psychomotor and cognitive functions. The purpose of this study was to investigate possible microstructural abnormalities of the corpus callosum in children with developmental delay, who have normal conventional brain MR imaging results. Seventeen pediatric patients (aged 1-9 years) with developmental delay were studied. Quantitative T2 and fractional anisotropy (FA) values were measured at the genu and splenium of the corpus callosum (CC). Fibre tracking, volumetric determination, as well as fibre density calculations of the CC were also carried out. The results were compared with those of the age-matched healthy subjects. A general elevation of T2 relaxation times (105 ms in patients vs. 95 ms in controls) and reduction of the FA values (0.66 in patients vs. 0.74 in controls) at the genu of the CC were found in patients. Reductions of the fibre numbers (5,464 in patients vs. 8,886 in controls) and volumes (3,415 ml in patients vs. 5,235 ml in controls) of the CC were found only in patients older than 5 years. The study indicates that despite their inconspicuous findings in conventional MRI microstructural brain abnormalities are evident in these pediatric patients suffering from developmental delay.

  20. Barriers to success in parent training for young children with developmental delay: the role of cumulative risk.

    PubMed

    Bagner, Daniel M; Graziano, Paulo A

    2013-05-01

    The purpose of this study was to examine the effect of cumulative risk on dropout and treatment outcome in parent training. Participants were 44 families of young children (mean age of 49.59 months) who presented with elevated externalizing behavior problems and developmental delay or borderline developmental delay. All families were offered to receive Parent-Child Interaction Therapy (PCIT), an evidence-based, behavioral parent-training intervention, at a hospital-based outpatient clinic. Cumulative risk was calculated as a sum of risk variables, including socioeconomic disadvantage (poverty, low maternal education), family structure (single-parent household), and maternal risk characteristics (minority status, lower intelligence, and parental distress). Families with higher cumulative risk scores, especially those with three or more risks, were more likely to drop out of treatment and display diminished treatment response in child behavior and parenting skills compared with families with lower cumulative risk scores. However, only two individual risk factors (i.e., minority status and family structure) predicted dropout, and one individual risk factor (i.e., maternal education) predicted outcome. These findings suggest that it can be useful to conceptualize risk factors as having a cumulative, in addition to individual, influence on parent-training interventions for children with developmental delay and have significant implications for clinical practice. It is important for clinicians to regularly assess for risk factors, and future research should examine ways in which clinicians can improve retention and outcome of parent training in the presence of multiple risk factors.

  1. Short-term family-centered workshop for children with developmental delays enhances family functioning and satisfaction

    PubMed Central

    Hsieh, Ru-Lan; Hsieh, Wen-Huei; Lee, Wen-Chung

    2016-01-01

    Abstract We investigated the clinical efficacy on family functioning and parental satisfaction of a short-term family-centered workshop for children with developmental delays. A total of 32 children with developmental delays and their parents participated in 2-hour weekly group therapy sessions over 6 weeks. The workshop was conducted by rehabilitation professionals and teachers using a family-centered multidisciplinary approach. Both before and after the 6-week workshop, the parents were administered the Pediatric Quality of Life Inventory (PedsQL) Family Impact Module, the PedsQL Healthcare Satisfaction Module, the Hospital Anxiety and Depression Scale, and the World Health Organization Quality of Life brief assessment instrument. Overall satisfaction with the workshop was also evaluated. Significant improvements were noted in physical aspect (P = 0.03), communication (P = 0.002), and daily activities (P = 0.04) in the PedsQL Family Impact Module, and in communication (P = 0.03) and technical skills (P = 0.05) in the PedsQL Healthcare Satisfaction Module. Overall satisfaction with the workshop was rated as very high. There was no significant effect on psychological distress or quality of life. Short-term family-centered workshops for children with developmental delays improved family functioning and the parental perception of satisfaction, including health care satisfaction. PMID:27495025

  2. Parent Training for Children With or at Risk for Developmental Delay: The Role of Parental Homework Completion

    PubMed Central

    Ros, Rosmary; Hernandez, Jennifer; Graziano, Paulo A.; Bagner, Daniel M.

    2015-01-01

    This study investigated the extent to which parental homework completion during behavioral parent training (BPT) for children with or at risk for developmental delay contributed to parenting and child outcomes. Parents of 48 children (Mage = 44.17 months, SD = 14.29; 73% male; 72% White) with developmental delay (IQ < 75) or at risk for developmental delay (due to premature birth) with co-occurring clinically elevated externalizing behavior problems received Parent-Child Interaction Therapy (PCIT) as part of two previously completed randomized controlled trials. Parental homework completion was measured using parental report of home practice of treatment skills collected weekly by therapists. Parents also reported on child externalizing behavior problems and levels of parenting stress, while parenting skills were observed during a 5-min child directed play and child compliance was observed during a 5-min cleanup situation. Results indicated that higher rates of parental homework completion predicted parenting outcomes (i.e., increased positive parenting skills and decreased levels of parenting stress) and child outcomes (i.e., lower levels of externalizing behavior problems). Additionally, although limited by temporal precedence, there was an indirect effect of reductions in parenting stress on the negative association between parental homework completion and child externalizing behavior problems. These findings highlight the importance of parents practicing skills learned during BPT for optimizing treatment outcome. Parenting stress was also identified as a potential mechanism by which high levels of parental homework completion contributed to reductions in child externalizing behavior problems. PMID:26763493

  3. Patient factors associated with delayed diagnosis of developmental dysplasia of the hip.

    PubMed

    Lindberg, A W; Bompadre, V; Satchell, E K; Larson, A C R; White, K K

    2017-06-01

    Early detection and intervention for developmental dysplasia of the hip (DDH) is important for normal hip development. Previous studies have shown disparities in access to paediatric specialty care among different racial and socioeconomic backgrounds. This study aims to identify whether these factors are related to timely referral for infants with DDH. A retrospective cohort study of patients seen and treated for DDH between July 2006 and June 2011 at a single institution were reviewed. The patients were divided into early-presenting (seen before six months of age) and late-presenting patients (seen at six months of age or later). A total of 457 patients met the eligibility criteria. There were 378 early and 79 late presentations. Late presentations were significantly more likely to be vertex at birth (85% vs 41%, p < 0.001). Bivariate analysis also demonstrated that late presentations were more likely to be non-white (65% vs 45%, p = 0.004), non-English speaking (20% vs 8%, p = 0.003), from lower income areas ($70 769 vs $61 591, p < 0.001) and hold public insurance (25%, p = 0.001). However, a logistic multiple regression analysis showed that only vertex birth presentation (p = 0.000), absent family history of DDH (p = 0.047) and affected right side (p = 0.001) were significantly associated with late presentation. Despite screening algorithms to facilitate early diagnosis of infants with DDH, better research is needed to understand how different demographic and socioeconomic factors play into the delayed access to paediatric orthopaedic care for DDH so that we may ultimately improve rates of early treatment.

  4. Functional performance of school children diagnosed with developmental delay up to two years of age

    PubMed Central

    Dornelas, Lílian de Fátima; Magalhães, Lívia de Castro

    2016-01-01

    Abstract Objective: To compare the functional performance of students diagnosed with developmental delay (DD) up to two years of age with peers exhibiting typical development. Methods: Cross-sectional study with functional performance assessment of children diagnosed with DD up to two years of age compared to those with typical development at seven to eight years of age. Each group consisted of 45 children, selected by non-random sampling, evaluated for motor skills, quality of home environment, school participation and performance. ANOVA and the Binomial test for two proportions were used to assess differences between groups. Results: The group with DD had lower motor skills when compared to the typical group. While 66.7% of children in the typical group showed adequate school participation, receiving aid in cognitive and behavioral tasks similar to that offered to other children at the same level, only 22.2% of children with DD showed the same performance. Although 53.3% of the children with DD achieved an academic performance expected for the school level, there were limitations in some activities. Only two indicators of family environment, diversity and activities with parents at home, showed statistically significant difference between the groups, with advantage being shown for the typical group. Conclusions: Children with DD have persistent difficulties at school age, with motor deficit, restrictions in school activity performance and low participation in the school context, as well as significantly lower functional performance when compared to children without DD. A systematic monitoring of this population is recommended to identify needs and minimize future problems. PMID:26553573

  5. Conversational behaviour of children with Developmental Language Delay and their caretakers.

    PubMed

    van Balkom, Hans; Verhoeven, Ludo; van Weerdenburg, Marjolijn

    2010-01-01

    A subset of children with Developmental Language Delay (DLD) encountered difficulties with the regulation of spoken discourse. In the conversations of caretakers with DLD children, several studies report difficulties with turn-taking, a proneness to use the non-verbal register, child and caretaker problems with topic management. Longitudinal research has yet to be conducted on the conversational behaviour of young DLD children and their caretakers. The study investigates the development of style and structure of conversations between preschool-aged DLD children and their caretakers. In a longitudinal design, language samples from twelve DLD children and six Normal Language-Acquiring (NLA) children and their caretakers were recorded in semi-structured play situations at two-month intervals across a period of 18 months. The children were between 2 and 3 years of age at the start of the study. The data show that the DLD children predominantly use restricted linguistic forms, non-verbal register and experience difficulties with turn-taking, topic initiation and topic maintenance. The conversational style of the caretakers in dialogue with their DLD children consistently showed more attention-gathering turns, formulaic corrections, self-repetitions and re-introductions of topics when compared with the conversational style of caretakers in dialogue with their NLA children across the 18 months. Caretakers in DLD dyads appear to develop a less facilitative conversational style and a decrease of contingencies in initiations and responses over time. The result is little opportunity for the conversational and linguistic skills of the DLD children to develop. Parental guidance in the form of conversational training, child-adjusted register, contingent response behaviour and the provision of language materials which can help the child discover his or her role as a conversational partner and recognize the different perspectives of conversational partners is emphasized.

  6. Perioperative opioid administration in children with and without developmental delay undergoing outpatient dental surgery.

    PubMed

    Conner, Erin R; Musser, Erica D; Colpitts, Kelsey M; Laochamroonvorapongse, Dean L; Koh, Jeffrey L

    2017-02-01

    Prior research has indicated that children with developmental delay (DD) experience qualitative and quantitative differences in health care (Boulet et al., 2009). In the perioperative setting, there is concern that children with DD may be more likely to experience postoperative complications including agitation and nausea/vomiting than typically developing patients (TDP). Differences in the administration and dosage of perioperative opioids may contribute to this, however, empirical investigations are lacking. The purpose of this research was to compare the experience of postoperative nausea/vomiting and agitation, as well as to examine perioperative opioid administration, among children with DD as compared to TDP. Retrospective original research. Operating room, postanesthesia care unit. 1145 patients (1-20.9years, ASA I-III, 23.9% with a history of DD) who had undergone outpatient dental surgery involving extraction/restorations under general anesthesia. Data was obtained and analyzed from the medical records of both DD and TDP across a five-year period. Data included the experience of agitation, nausea/vomiting, as well as perioperative medication administration. Postoperative agitation and nausea/vomiting did not differ significantly between the DD and TDP groups. Children with DD were significantly less likely to receive opioids during both the intra and postoperative period (χ(2)=10.02, p=0.001 and χ(2)=8.08, p=0.003, respectively). Further, higher dosage of intraoperative opioids was predictive of reduced administration of postoperative opioids among TDP; however, no significant association was observed between the dosage of intraoperative opioids and administration of postoperative opioids in the DD group. Children with DD experience similar rates of postoperative complications including nausea/vomiting and agitation as TDP. DD children were less likely to receive both intra and postoperative opioids than TDP. Importantly, while the dosage of

  7. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

    PubMed

    López-Pisón, J; García-Jiménez, M C; Monge-Galindo, L; Lafuente-Hidalgo, M; Pérez-Delgado, R; García-Oguiza, A; Peña-Segura, J L

    2014-09-01

    Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  8. [Functional performance of school children diagnosed with developmental delay up to two years of age].

    PubMed

    Dornelas, Lílian de Fátima; Magalhães, Lívia de Castro

    2016-01-01

    To compare the functional performance of students diagnosed with developmental delay (DD) up to two years of age with peers exhibiting typical development. Cross-sectional study with functional performance assessment of children diagnosed with DD up to two years of age compared to those with typical development at seven to eight years of age. Each group consisted of 45 children, selected by non-random sampling, evaluated for motor skills, quality of home environment, school participation and performance. ANOVA and the Binomial test for two proportions were used to assess differences between groups. The group with DD had lower motor skills when compared to the typical group. While 66.7% of children in the typical group showed adequate school participation, receiving aid in cognitive and behavioral tasks similar to that offered to other children at the same level, only 22.2% of children with DD showed the same performance. Although 53.3% of the children with DD achieved an academic performance expected for the school level, there were limitations in some activities. Only two indicators of family environment, diversity and activities with parents at home, showed statistically significant difference between the groups, with advantage being shown for the typical group. Children with DD have persistent difficulties at school age, with motor deficit, restrictions in school activity performance and low participation in the school context, as well as significantly lower functional performance when compared to children without DD. A systematic monitoring of this population is recommended to identify needs and minimize future problems. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  9. [Evaluation and diagnosis of patients with developmental delay: standardised protocols from the paediatric point of view].

    PubMed

    Poch-Olivé, M L

    2006-01-07

    The identification of the causes of mental retardation (MR) is of great importance because of the consequences it has in the intervention, prognosis, knowledge of risk of recurrence and its prevention. The purpose of this review is to provide a global evaluation of the child with developmental delay or with MR in day-to-day clinical praxis of the neuropaediatrician who has to put aetiological diagnosis in practice. To this end we conduct a review of the evidence-based guidelines published by the leading groups of experts that assess the weight of diagnostic tests in the initial evaluation of children with MR and propose an algorithm that helps the clinician to make decisions. A good patient record including the familial and personal history, the examination and observation of behaviour is essential before starting the laboratory and imaging tests in a rational manner. At the outset, cytogenetic and molecular genetic studies are indicated to study fragile X syndrome and neuroimaging, preferably magnetic resonance, should be employed above all when anomalies are observed in the examination. Ophthalmologic and auditory evaluation is recommended in all cases. Routine metabolic screening is not indicated at the outset; studies to investigate thyroid (T4 and TSH) and other metabolic pathologies can be considered when the child has not been subject to neonatal metabolic screening or when there is clinical evidence of it. Routine electroencephalogram studies are not recommended, but can be considered if suggested by the clinical history. Likewise, the clinician may consider a study for toxins, if the clinical history suggests it, and a genetic study of Rett syndrome, in the case of girls with MR that cannot be accounted for by other causes.

  10. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

    PubMed Central

    Uddin, Mohammed; Pellecchia, Giovanna; Thiruvahindrapuram, Bhooma; D’Abate, Lia; Merico, Daniele; Chan, Ada; Zarrei, Mehdi; Tammimies, Kristiina; Walker, Susan; Gazzellone, Matthew J.; Nalpathamkalam, Thomas; Yuen, Ryan K. C.; Devriendt, Koenraad; Mathonnet, Géraldine; Lemyre, Emmanuelle; Nizard, Sonia; Shago, Mary; Joseph-George, Ann M.; Noor, Abdul; Carter, Melissa T.; Yoon, Grace; Kannu, Peter; Tihy, Frédérique; Thorland, Erik C.; Marshall, Christian R.; Buchanan, Janet A.; Speevak, Marsha; Stavropoulos, Dimitri J.; Scherer, Stephen W.

    2016-01-01

    A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage effects in neurodevelopmental disorders prompted us to develop a computational approach based on critical-exon (highly expressed in brain, highly conserved) examination for potential etiologic effects. Using a large CNV dataset, our updated analyses revealed significant (P < 1.64 × 10−15) enrichment of critical-exons within rare CNVs in cases compared to controls. Separately, we used a weighted gene co-expression network analysis (WGCNA) to construct an unbiased protein module from prenatal and adult tissues and found it significantly enriched for critical exons in prenatal (P < 1.15 × 10−50, OR = 2.11) and adult (P < 6.03 × 10−18, OR = 1.55) tissues. WGCNA yielded 1,206 proteins for which we prioritized the corresponding genes as likely to have a role in neurodevelopmental disorders. We compared the gene lists obtained from critical-exon and WGCNA analysis and found 438 candidate genes associated with CNVs annotated as pathogenic, or as variants of uncertain significance (VOUS), from among 10,619 developmental delay cases. We identified genes containing CNVs previously considered to be VOUS to be new candidate genes for neurodevelopmental disorders (GIT1, MVB12B and PPP1R9A) demonstrating the utility of this strategy to index the clinical effects of CNVs. PMID:27363808

  11. EMOTIONAL AVAILABILITY IN EARLY MOTHER-CHILD INTERACTIONS FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS, OTHER PSYCHIATRIC DISORDERS, AND DEVELOPMENTAL DELAY.

    PubMed

    Gul, Hesna; Erol, Nese; Akin, Duygu Pamir; Gullu, Belgin Ustun; Akcakin, Melda; Alpas, Başak; Öner, Özgür

    2016-01-01

    Emotional availability (EA) is a method to assess early parent-child dyadic interactions for emotional awareness, perception, experience, and expression between child and parent that describe global relational quality (Z. Biringen & M. Easterbrooks, 2012). The current study aimed to examine the effects of an infant's diagnosis of autism spectrum disorders (ASDs), other psychiatric disorders (OPD), and developmental delay (DD) on the maternal EA Scale (EAS; Z. Biringen & M. Easterbrooks, 2012; Z. Biringen, J.L. Robinson, & R.N. Emde, 2000) scores and the relative contributions of infant's age, gender, diagnosis, developmental level, and maternal education on EAS scores in a clinical Turkish sample. Three hundred forty-five infant-mother dyads participated in this study. Results of the research indicated that EAS adult scores were associated with maternal education and infant's diagnosis whereas child scores were associated with infant's age, diagnosis, and developmental level. Infants' involvement and responsiveness to the mother were lower in the group with ASD. Children with OPD, particularly when their mothers have lower education, might be at increased risk of having problems in parent-child interactions. Young ASD subjects with developmental delay are in greatest need of support to increase reactions toward their mother. These findings underscore the importance of using all of the EA dimensions rather than only one measure on children in high-risk populations. © 2016 Michigan Association for Infant Mental Health.

  12. Cognitive development in children with language impairment, and correlation between language and intelligence development in kindergarten children with developmental delay.

    PubMed

    Liao, Su-Fen; Liu, Jui-Ching; Hsu, Chun-Ling; Chang, Ming-Yuh; Chang, Tung-Ming; Cheng, Helen

    2015-01-01

    We performed a retrospective review of 65 children with developmental delay. The male-to-female ratio was 2.25 : 1, and the mean age was 5.8 years; performance IQ was 94.8, verbal IQ was 83, and full-scale IQ was 87.4. Twenty-three (35%) children had normal language development, 13 (20%) had below average language development, and 29 (45%) had developmental language disorder. Performance IQ was significantly better than verbal IQ in all children (P < .001), and there was no difference within the 3 language groups. The performance IQ (P = .007) of children with developmental language disorder and specific language impairment was significantly lower than that of children with normal language development. Performance IQ was found to be correlated with language score (r = .309, P = .012). The children with language impairment were associated with lower IQ scores. The discrepancy between performance IQ and verbal IQ persisted in children with developmental delay, not only in children with language disorder. © The Author(s) 2014.

  13. Developmental iodine deficiency delays the maturation of newborn granule neurons associated with downregulation of p35 in postnatal rat hippocampus.

    PubMed

    Yu, Fei; Wang, Yi; Xu, Hongde; Dong, Jing; Wei, Wei; Wang, Yuan; Shan, Zhongyan; Teng, Weiping; Xi, Qi; Chen, Jie

    2014-08-01

    We evaluated the role of p35 in the maturation of hippocampal granule neurons in offspring caused by developmental iodine deficiency. Two developmental rat models were established with either an iodine-deficient diet, or propylthiouracil-adulterated water (5 ppm) to impair thyroid function, in pregnant rats from gestational day 6 until postnatal day 28. The protein levels of p35, cyclin-dependent kinase 5, β-catenin, and N-cadherin were assessed on postnatal day 14, 21, and 28. Dendritic morphogenesis of newborn granule neurons in dentate gyrus was examined. Developmental hypothyroidism induced by iodine deficiency and PTU treatment delayed the maturation of hippocampal granule neurons in the offspring and decreased the percentage of Dcx-positive neurons that expressed β-catenin on postnatal day 21 and 28. In addition, downregulation of p35 was observed in dentate gyrus of hypothyroid groups. Developmental hypothyroidism induced by iodine deficiency and PTU treatment could delay the maturation of newborn granule neurons in dentate gyrus, and this deficit may be attributed to the downregulation of p35. Copyright © 2012 Wiley Periodicals, Inc., a Wiley company.

  14. Screening for autism in young children with developmental delay: an evaluation of the developmental behaviour checklist: early screen.

    PubMed

    Gray, K M; Tonge, B J; Sweeney, D J; Einfeld, S L

    2008-07-01

    The ability to identify children who require specialist assessment for the possibility of autism at as early an age as possible has become a growing area of research. A number of measures have been developed as potential screening tools for autism. The reliability and validity of one of these measures for screening for autism in young children with developmental problems was evaluated. The parents of 207 children aged 20-51 months completed the Developmental Checklist-Early Screen (DBC-ES), prior to their child undergoing assessment. Good interrater agreement and internal consistency was found, along with significant correlations with a clinician completed measure of autism symptomatology. High sensitivity was found, with lower specificity for the originally proposed 17-item screening tool and a five-item version.

  15. WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

    PubMed

    Hoffjan, Sabine; Ibisler, Aysegül; Tschentscher, Anne; Dekomien, Gabriele; Bidinost, Carla; Rosa, Alberto L

    2016-02-01

    Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed by a secondary neurological decline with parkinsonism and/or dementia in adolescence or early adulthood. Recent reports suggest that WDR45 mutations are associated with a broader phenotypic spectrum. We identified a novel splice site mutation (c.440-2 A > G) in a 5-year-old Argentinian patient with Rett-like syndrome, exhibiting developmental delay, microcephaly, seizures and stereotypic hand movements, and discuss this finding, together with a review of the literature. Additional patients with a clinical diagnosis of Rett (-like) syndrome were also found to carry WDR45 mutations before (or without) clinical decline or signs of iron accumulation by magnetic resonance imaging (MRI). This information indicates that WDR45 mutations should be added to the growing list of genetic alterations linked to Rett-like syndrome. Further, clinical symptoms associated with WDR45 mutations ranged from early-onset epileptic encephalopathy in a male patient with a deletion of WDR45 to only mild cognitive delay in a female patient, suggesting that analysis of this gene should be considered more often in patients with developmental delay, regardless of severity. The increasing use of next generation sequencing technologies as well as longitudinal follow-up of patients with an early diagnosis will help to gain additional insight into the phenotypic spectrum associated with WDR45 mutations.

  16. Predictors of severity and outcome of global developmental delay without definitive etiologic yield: a prospective observational study

    PubMed Central

    2014-01-01

    Background Although several determinants of global developmental delay (GDD) have been recognized, a significant number of children remain without definitive etiologic diagnosis. The objective of this study was to assess the effect of various prenatal and perinatal factors on the severity and outcome of developmental delay without definitive etiologic yield. Methods From March 2008 to February 2010, 142 children with developmental quotient (DQ) <70 and without definitive etiologic diagnosis, were included. Prenatal and perinatal risk factors known to be associated with disordered neonatal brain function were identified. Participants underwent a thorough investigation, an individualized habilitation plan was recommended, and the children were followed-up regularly for a period of 2 < years. The effect of prenatal and perinatal risk factors on the severity and outcome of GDD was assessed by regression analysis. Results The mean age at enrolment was 31 ± 12 < months, and the mean DQ 52.2 ± 11.4. Prematurity and intrauterine growth restriction (IUGR) were found to be independently associated with lower DQ values. The mean DQ after the 2-year follow-up was 62.5 ± 12.7, and the DQ difference from the enrollment 10.4 ± 8.9 (median 10; range-10 to 42). DQ improvement (defined as a DQ difference?≥?median) was noted in 52.8% of the children. IUGR, low socio-economic status, and poor compliance to habilitation plan were found to be independently associated with poorer developmental outcomes. Conclusions Prematurity and IUGR were found to be significantly and independently related to the severity of GDD in cases without definitive etiologic yield. Poorer 2-year developmental outcome was associated with IUGR, low socioeconomic status and non compliance to habilitation plan. Prematurity was a significant determinant of the outcome only in association with the above mentioned factors. PMID:24521451

  17. A randomized controlled trial of routines-based early intervention for children with or at risk for developmental delay.

    PubMed

    Hwang, Ai-Wen; Chao, Mei-Yuan; Liu, Shu-Wen

    2013-10-01

    Routines-based early intervention (RBEI) for children with or at risk for developmental delay encourages collaboration between professionals and families to enhance children's participation in family routines with family-selected goals. We conducted the first single-blinded randomized control trial to examine the effectiveness of a 6-month RBEI vs. traditional home visiting (THV), which uses a curriculum focused on children's developmental domains. Thirty-one families with children aged 5-30 months (mean age 17.4 months) with or at risk for developmental delay were randomly assigned to an RBEI group (n=15) or a THV group (n=16). The enrolled children were evaluated using the Chinese version of Pediatric Evaluation of Disability Inventory (PEDI-C) and the Comprehensive Development Inventory for Infants and Toddlers (CDIIT) at 5 time points. Two-way mixed analysis of variance (ANOVA) was used to examine the group by stage interactions. Goal Attainment Scaling (GAS) and the Canadian Occupational Performance Measure (COPM) were applied to explore between-group differences on individualized goal achievement. PEDI-C showed that the RBEI group had a faster progress rate in self-care functions and independence in social functions in the first 3 months of intervention and at the 6-month follow-up. The RBEI group also scored higher on the GAS in the first 3 months of intervention. However, between-group differences in changes in the developmental domains on the CDIIT were not significant. Thus, RBEI was more effective than THV in promoting functional outcomes and reaching family-selected goals, while both interventions allowed equal improvement in developmental domains. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

  18. Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?

    PubMed

    Cundiff, David K; Harris, William

    2006-01-16

    Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be malnourished by feeding them all an exclusively raw foods vegan diet. Both parents declined plea bargains and plan to defend themselves in court. The fifth child born to a married couple was breast-fed until 2 1/2 months. Subsequently, the parents fed the baby an exclusively raw foods diet prepared in a blender at home. The four older children, ages 18 months-6 1/2 years also ate an exclusively raw foods vegan diet. None of the four older children had significant previous injuries or serious illnesses. At autopsy, the infant weighed 3180 mg (6.99 pounds) and appeared emaciated. The thymus gland was absent and parathyroid glands were not located. The lungs were "congested." DiGeorge anomaly cannot be ruled out from these findings. Although, the coroner ruled that "malnutrition" was the sole cause of death, malnutrition, according to the World Health Organization definition, cannot be diagnosed in this infant. Compared with standard growth charts, the older children fell 2.1-4.1 standard deviations below the mean for North American children in height and weight. Labs were normal except for a low cholesterol level in all and a low prealbumin in one of three children tested. Therefore, malnutrition cannot be diagnosed in these children. The pediatrician diagnosed rickets in the four-year-old. However, chest x-rays were normal in all and long bone x-rays showed minimal changes in one child--no sign of rickets. The clinical diagnosis of rickets was not confirmed by the Center for Disease Control's criteria. A psychologist diagnosed the 18-month-old as developmentally delayed to the level of a 15-month-old, but this diagnosis is questionable. The raw foods vegan diet and possibly inherited small stature from the father's side account for their relatively low heights and

  19. The Efficacy of Arabic Version of the Developmental Assessment of Young Children Second Edition (DAYC-2) Scale in Detecting Developmental Delay among Jordanian Children Aged Birth to 71 Months

    ERIC Educational Resources Information Center

    Saleh, Rawan M. Abu; Smadi, Jamil M.

    2017-01-01

    This study aimed to assess the efficacy of the developmental assessment of young children second edition (DAYC-2) Scale in detecting Developmental Delay among Jordanian children aged birth to 71 months. Firstly, the scale was translated and reviewed for language and cultural appropriateness. Secondly, the Arabic Jordanian version of the scale was…

  20. Chronic Lung Disease and Developmental Delay at 2 Years of Age in Children Born Before 28 Weeks' Gestation

    PubMed Central

    Laughon, Matthew; O'Shea, Michael T.; Allred, Elizabeth N.; Bose, Carl; Kuban, Karl; Van Marter, Linda J.; Ehrenkranz, Richard A.; Leviton, Alan

    2009-01-01

    Introduction Extremely low gestational age newborns (ELGANs) are at increased risk of chronic lung disease (CLD) and of developmental delay. Some studies have suggested that CLD contributes to developmental delay. Patients and Methods We examined data collected prospectively on 915 infants born before the 28th week of gestation in 2002–2004 who were assessed at 24 months of age with the Bayley Scales of Infant Development-2nd Edition or the Vineland Adaptive Behavior Scales. We excluded infants who were not able to walk independently (Gross Motor Function Classification System score < 1) and, therefore, more likely to have functionally important fine motor impairments. We defined CLD as receipt of oxygen at 36 weeks' postmenstrual age and classified infants as either not receiving mechanical ventilation (MV) (CLD without MV) or receiving MV (CLD with MV). Results Forty-nine percent of ELGANs had CLD; of these, 14% were receiving MV at 36 weeks' postmenstrual age. ELGANs without CLD had the lowest risk of a Mental Developmental Index (MDI) or a Psychomotor Developmental Index (PDI) of <55, followed by ELGANs with CLD not receiving MV, and ELGANs with CLD receiving MV (9%, 12%, and 18% for the MDI and 7%, 10%, and 20% for the PDI, respectively). In time-oriented multivariate models, the risk of an MDI of <55 was associated with the following variables: gestational age of <25 weeks; single mother; late bacteremia; pneumothorax; and necrotizing enterocolitis. The risk of a PDI of <55 was associated with variables such as single mother, a complete course of antenatal corticosteroids, early and persistent pulmonary dysfunction, pulmonary deterioration during the second postnatal week, pneumothorax, and pulmonary interstitial emphysema. CLD, without or with MV, was not associated with the risk of either a low MDI or a low PDI. However, CLD with MV approached, but did not achieve, nominal statistical significance (odds ratio: 1.9 [95% confidence interval: 0.97–3

  1. Neuropsychological Functioning of Siblings of Children with Autism, Siblings of Children with Developmental Language Delay, and Siblings of Children with Mental Retardation of Unknown Genetic Etiology

    ERIC Educational Resources Information Center

    Pilowsky, Tammy; Yirmiya, Nurit; Gross-Tsur, Varda; Shalev, Ruth S.

    2007-01-01

    Neuropsychological functioning of 30 siblings of children with autism (AU-S), 28 siblings of children with mental retardation of (MR-S), and 30 siblings of children with developmental language delay (DLD-S) was compared. Two siblings, both AU-S, received diagnoses of pervasive developmental disorder (PDD). More siblings with cognitive disabilities…

  2. Early Postnatal Hypotension and Developmental Delay at 24 Months of Age among Extremely Low Gestational Age Newborns

    PubMed Central

    Logan, J. Wells; O’Shea, T. Michael; Allred, Elizabeth N.; Laughon, Matthew M.; Bose, Carl L.; Dammann, Olaf; Batton, Daniel G.; Engelke, Stephen C.; Leviton, Alan

    2016-01-01

    Objectives To evaluate, in extremely low gestational age newborns (ELGANs), relationships between indicators of hypotension during the first 24 postnatal hours and developmental delay at 24 months of age. Methods The 945 infants in this prospective study were born at < 28 weeks, were assessed for 3 indicators of hypotension in the first 24 postnatal hours, and were evaluated with the Bayley Mental Development Index (MDI) and Psychomotor Development Index (PDI) at 24 months corrected age. Indicators of hypotension included: 1) mean arterial pressure (MAP) in the lowest quartile for gestational age; 2) treatment with a vasopressor; and 3) blood pressure lability, defined as the upper quartile for the difference between the lowest and highest MAP. Logistic regression was used to evaluate relationships between hypotension and developmental outcomes, adjusting for potential confounders. Results 26% of the cohort had an MDI < 70 and 32% had a PDI < 70. Low MDI and PDI were significantly associated with low gestational age, which in turn, was associated with receipt of vasopressor treatment. Blood pressure in the lowest quartile for gestational age was associated with vasopressor treatment and labile blood pressure. After adjusting for potential confounders, none of the indicators of hypotension was associated with MDI < 70 or PDI < 70. Conclusions In this large cohort of ELGANs, we found little evidence that early postnatal hypotension is associated with developmental delay at 24 months corrected gestational age. PMID:21138828

  3. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

    PubMed

    Mullegama, Sureni V; Klein, Steven D; Mulatinho, Milene V; Senaratne, Tharanga Niroshini; Singh, Kathryn; Nguyen, Dzung C; Gallant, Natalie M; Strom, Samuel P; Ghahremani, Shahnaz; Rao, Nagesh P; Martinez-Agosto, Julian A

    2017-05-01

    The cohesin complex is an evolutionarily conserved multi-subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis. Additionally, the cohesin complex regulates DNA replication, DNA repair, and transcription. The core of the complex consists of four subunits: SMC1A, SMC3, RAD21, and STAG1/2. Loss-of-function mutations in many of these proteins have been implicated in human developmental disorders collectively termed "cohesinopathies." Through clinical exome sequencing (CES) of an 8-year-old girl with a clinical history of global developmental delay, microcephaly, microtia with hearing loss, language delay, ADHD, and dysmorphic features, we describe a heterozygous de novo variant (c.205C>T; p.(Arg69*)) in the integral cohesin structural protein, STAG2. This variant is associated with decreased STAG2 protein expression. The analyses of metaphase spreads did not exhibit premature sister chromatid separation; however, delayed sister chromatid cohesion was observed. To further support the pathogenicity of STAG2 variants, we identified two additional female cases from the DECIPHER research database with mutations in STAG2 and phenotypes similar to our patient. Interestingly, the clinical features of these three cases are remarkably similar to those observed in other well-established cohesinopathies. Herein, we suggest that STAG2 is a dosage-sensitive gene and that heterozygous loss-of-function variants lead to a cohesinopathy. © 2017 Wiley Periodicals, Inc.

  4. Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.

    PubMed

    Freedenberg, D L; Gane, L W; Richards, C S; Lampe, M; Hills, J; O'Connor, R; Manchester, D; Taylor, A; Tassone, F; Hulseberg, D; Hagerman, R J; Patil, S R

    1999-07-30

    We report on an individual with developmental delays, short stature, skeletal abnormalities, normal pubertal development, expansion of the fragile X triplet repeat, as well as an isodicentric X chromosome. S is a 19-year-old woman who presented for evaluation of developmental delay. Pregnancy was complicated by a threatened miscarriage. She was a healthy child with intellectual impairment noted in infancy. Although she had global delays, speech was noted to be disproportionately delayed with few words until age 3.5 years. Facial appearance was consistent with fragile X syndrome. Age of onset of menses was 11 years with normal breast development. A maternal male second cousin had been identified with fragile X syndrome based on DNA studies. The mother of this child (S's maternal first cousin) and the grandfather (S's maternal uncle) were both intellectually normal but were identified as carrying triplet expansions in the premutation range. S's mother had some school difficulties but was not identified as having global delays. Molecular analysis of S's fragile X alleles noted an expansion of more than 400 CGG repeats in one allele. Routine cytogenetic studies of peripheral blood noted the presence of an isodicentric X in 81of 86 cells scored. Five of 86 cells were noted to be 45,X. Cytogenetic fra(X) studies from peripheral blood showed that the structurally normal chromosome had the fragile site in approximately 16% of the cells. Analysis of maternal fragile X alleles identified an allele with an expansion to approximately 110 repeats. FMRP studies detected the expression of the protein in 24% of cells studied. To our knowledge, this is the first patient reported with an isodicentric X and fragile X syndrome. Whereas her clinical phenotype is suggestive of fragile X syndrome, her skeletal abnormalities may represent the presence of the isodicentric X. Treatment of S with 20 mg/day of Prozac improved her behavior. In the climate of cost con trol, this individual

  5. Promoting the peer-related social development of young children with mild developmental delays: effectiveness of a comprehensive intervention.

    PubMed

    Guralnick, Michael J; Connor, Robert T; Neville, Brian; Hammond, Mary A

    2006-09-01

    To address the unusual peer-related social competence difficulties characteristic of young children with mild developmental delays, we conducted a randomized clinical trial to evaluate the effectiveness of a comprehensive, developmentally oriented, highly individualized intervention extending over a 2-year period. Outcome measures emphasized generalization of peer interactions in unfamiliar playgroups. Results revealed modest effects of the intervention, with children who had lower cognitive levels benefiting most. Intervention effects were best conceptualized as preventative, minimizing the negative features and atypical patterns of children's social play with peers. Our discussion of future work was focused on alternative implementation models to enhance intervention intensity, inclusion of specific subgroups of children, and direct measurement of children engaging in social tasks.

  6. Communicative Interactions of Mildly Delayed and Normally Developing Preschool Children: Effects of Listener's Developmental Level.

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Paul-Brown, Diane

    1986-01-01

    The communicative interactions of 32 mildly delayed and normally developing preschoolers were recorded during free play in a mainstreamed program. Analyses of syntactic complexity, semantic diversity, functional aspects of speech, and the use of selected discourse devices indicated that mildly delayed children adjusted important characteristics of…

  7. Communicative Interactions of Mildly Delayed and Normally Developing Preschool Children: Effects of Listener's Developmental Level.

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Paul-Brown, Diane

    1986-01-01

    The communicative interactions of 32 mildly delayed and normally developing preschoolers were recorded during free play in a mainstreamed program. Analyses of syntactic complexity, semantic diversity, functional aspects of speech, and the use of selected discourse devices indicated that mildly delayed children adjusted important characteristics of…

  8. Brief report: Effects of pressure vest usage on engagement and problem behaviors of a young child with developmental delays.

    PubMed

    Reichow, Brian; Barton, Erin E; Good, Leslie; Wolery, Mark

    2009-08-01

    The purpose of this study was to examine the effects of wearing a pressure vest for a young boy with developmental delays. An A-B-A withdrawal design was used to examine the relation between wearing the pressure vest and child behaviors during a preschool art activity. Although the data showed moderate variability, no systematic differences were found in child engagement when the vest was worn and when the vest was not worn and problem behavior increased when the vest was being worn. These results are discussed in the context of the study limitations. Implications for future research are provided.

  9. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

    PubMed Central

    Shaffer, Lisa G.

    2005-01-01

    The following are the recommendations of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee, which was convened to assist health care professionals in making decisions regarding cytogenetic diagnostic testing and counseling for mental retardation (MR) and developmental delay (DD). This document reviews available evidence concerning the value of conventional and molecular cytogenetic testing for the identification of chromosomal anomalies that play a role in the etiology of MR/DD, and, based on this evidence, specific recommendations for each method of testing are provided. PMID:16301868

  10. The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

    PubMed

    D'Arrigo, Stefano; Gavazzi, Francesco; Alfei, Enrico; Zuffardi, Orsetta; Montomoli, Cristina; Corso, Barbara; Buzzi, Erika; Sciacca, Francesca L; Bulgheroni, Sara; Riva, Daria; Pantaleoni, Chiara

    2016-05-01

    Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. Another goal was to test the association between a positive microarray-based comparative genomic hybridization result and the severity of intellectual disability/developmental delay. Microarray-based comparative genomic hybridization identified structural chromosomal alterations responsible for the intellectual disability/developmental delay phenotype in 16% of our sample. Our study showed that causative copy number variants are frequently found even in cases of mild intellectual disability (30.77%). We want to emphasize the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, because the degree of intellectual disability/developmental delay does not predict the diagnostic yield of microarray-based comparative genomic hybridization.

  11. Exploring visual-graphic symbol acquisition by pre-school age children with developmental and language delays.

    PubMed

    Barton, Andrea; Sevcik, Rose A; Romski, Mary Ann

    2006-03-01

    The process of language acquisition requires an individual to organize the world through a system of symbols and referents. For children with severe intellectual disabilities and language delays, the ability to link a symbol to its referent may be a difficult task. In addition to the intervention strategy, issues such as the visual complexity and iconicity of a symbol arise when deciding what to select as a medium to teach language. This study explored the ability of four pre-school age children with developmental and language delays to acquire the meanings of Blissymbols and lexigrams using an observational experiential language intervention. In production, all four of the participants demonstrated symbol-referent relationships, while in comprehension, three of the four participants demonstrated at least emerging symbol-referent relationships. Although the number of symbols learned across participants varied, there were no differences between the learning of arbitrary and comparatively iconic symbols. The participants' comprehension skills appeared to influence their performance.

  12. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

    PubMed

    Sarasua, Sara M; Dwivedi, Alka; Boccuto, Luigi; Chen, Chin-Fu; Sharp, Julia L; Rollins, Jonathan D; Collins, Julianne S; Rogers, R Curtis; Phelan, Katy; DuPont, Barbara R

    2014-04-01

    Phelan-McDermid syndrome is a developmental disability syndrome with varying deletions of 22q13 and varying clinical severity. We tested the hypothesis that, in addition to loss of the telomeric gene SHANK3, specific genomic regions within 22q13 are associated with important clinical features. We used a customized oligo array comparative genomic hybridization of 22q12.3-terminus to obtain deletion breakpoints in a cohort of 70 patients with terminal 22q13 deletions. We used association and receiver operating characteristic statistical methods in a novel manner and also incorporated protein interaction networks to identify 22q13 genomic locations and genes associated with clinical features. Specific genomic regions and candidate genes within 22q13.2q13.32 were associated with severity of speech/language delay, neonatal hypotonia, delayed age at walking, hair-pulling behaviors, male genital anomalies, dysplastic toenails, large/fleshy hands, macrocephaly, short and tall stature, facial asymmetry, and atypical reflexes. We also found regions suggestive of a negative association with autism spectrum disorders. This work advances the field of research beyond the observation of a correlation between deletion size and phenotype and identifies candidate 22q13 loci, and in some cases specific genes, associated with singular clinical features observed in Phelan-McDermid syndrome. Our statistical approach may be useful in genotype-phenotype analyses for other microdeletion or microduplication syndromes.

  13. Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

    PubMed

    Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent; Mutesa, Leon

    2016-02-01

    Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  14. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

    PubMed

    Manickam, Kandamurugu; Donoghue, Daniel J; Meyer, April N; Snyder, Pamela J; Prior, Thomas W

    2014-01-01

    Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is an extremely rare severe skeletal dysplasia characterized by significant developmental delay, brain structural abnormalities, hearing loss, and acanthosis nigricans. The disorder is the result of a single missense mutation at codon 650 (p.Lys650Met) in the fibroblast growth factor receptor 3 gene (FGFR3). We describe a child who initially presented with a mild achondroplasia or hypochondroplasia like phenotype. Molecular analysis of the FGFR3 gene showed the common SADDAN mutation and a second novel mutation at codon 651 (p.Thr651Pro). Both mutations were shown to occur on the same allele (cis) and de novo. Transient transfection studies with FGFR3 double mutant constructs show that the p.Thr651Pro mutation causes a dramatic decrease in constitutive receptor kinase activity than that observed by the p.Lys650Met mutation. Our data suggest that the molecular effect by the p.Thr651Pro is to elicit a conformational change that decreases the FGFR3 tyrosine kinase activity, which is constitutively activated by the SADDAN mutation. Due to the inheritance of both a gain-of-function and a loss-of-function mutation, we conclude that a reduction of constitutive activation caused the milder skeletal phenotype. Although the occurrence of double mutations are expected to be rare, the presence of other FGFR3 modifiers may be responsible for some of the clinically discrepant skeletal dysplasia cases.

  15. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

    PubMed Central

    Popp, Bernt; Støve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André

    2015-01-01

    Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we excluded other variants in this gene. This X-linked gene encodes N-alpha-acetyltransferase 10, the catalytic subunit of the NatA complex involved in multiple cellular processes. A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. This rare disorder is characterized by a highly recognizable phenotype, global developmental delay and results in death during infancy. In an attempt to explain the discrepant phenotype, we used in vitro N-terminal acetylation assays which suggested that the severity of the phenotype correlates with the remaining catalytic activity. The variant in the Ogden syndrome patients exhibited a lower activity than the one seen in the boy with intellectual disability, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used. We propose that N-terminal acetyltransferase deficiency is clinically heterogeneous with the overall catalytic activity determining the phenotypic severity. PMID:25099252

  16. Correlates of self-injurious, aggressive and destructive behaviour in children under five who are at risk of developmental delay.

    PubMed

    Petty, J L; Bacarese-Hamilton, M; Davies, L E; Oliver, C

    2014-01-01

    Several behavioural correlates of self-injury, aggression and destructive behaviour have been identified in children and young adults with intellectual disabilities. This cross-sectional study aimed to further explore these correlates in very young children with developmental delay. Parents of 56 children (40 male) under the age of five years (mean age 2 years 10 months) completed a questionnaire about their child's behaviour and the presence of behavioural correlates, including repetitive, over-active or impulsive behaviour and more severe developmental delay. Parents reported very high prevalence of self-injurious, aggressive and destructive behaviour: 51%, 64% and 51%, respectively. A binary logistic regression revealed that a higher score on a measure of overactive and impulsive behaviour significantly predicted the presence of destructive behaviour. A multiple linear regression revealed that both repetitive behaviour and number of health problems approached significance as independent predictors of severe self-injurious behaviour. Despite the very small sample, several factors emerged as potential predictors of self-injurious, aggressive and destructive behaviour. These findings support the need for further investigation in a larger sample. Confirmation in this age group could help guide the development of targeted early intervention for these behaviours by identifying behavioural risk markers. Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. Neural Correlates of Face and Object Recognition in Young Children with Autism Spectrum Disorder, Developmental Delay, and Typical Development

    PubMed Central

    Dawson, Geraldine; Carver, Leslie; Meltzoff, Andrew N.; Panagiotides, Heracles; McPartland, James; Webb, Sara J.

    2013-01-01

    This study utilized electroencephalographic recordings to examine whether young children with autism spectrum disorder (ASD) have impaired face recognition ability. High-density brain event-related potentials (ERPs) were recorded to photos of the child’s mother’s face versus an unfamiliar female face and photos of a favorite versus an unfamiliar toy from children with ASD, children with typical development, and children with developmental delay, all 3 to 4 years of age (N = 118). Typically developing children showed ERP amplitude differences in two components, P400 and Nc, to a familiar versus an unfamiliar face, and to a familiar versus an unfamiliar object. In contrast, children with ASD failed to show differences in ERPs to a familiar versus an unfamiliar face, but they did show P400 and Nc amplitude differences to a familiar versus an unfamiliar object. Developmentally delayed children showed significant ERP amplitude differences for the positive slow wave for both faces and objects. These data suggest that autism is associated with face recognition impairment that is manifest early in life. PMID:12038546

  18. Identification of infants at risk for autism spectrum disorder and developmental language delay prior to 12 months.

    PubMed

    Samango-Sprouse, Carole A; Stapleton, Emily J; Aliabadi, Farhad; Graw, Robert; Vickers, Rebecca; Haskell, Kathryn; Sadeghin, Teresa; Jameson, Robert; Parmele, Charles L; Gropman, Andrea L

    2015-04-01

    Studies have shown an increased head circumference and the absence of the head tilt reflex as possible risk factors for autism spectrum disorder, allowing for early detection at 12 months in typically developing population of infants. Our aim was to develop a screening tool to identify infants prior to 12 months at risk for autism spectrum disorder and developmental learning delay, not affected by literacy or primary parental language, and provide immediate determination of risk for autism spectrum disorder. An abrupt head circumference acceleration and the absence of head tilt reflex by 9 months were used to identify infants at risk for autism spectrum disorder. Stability of early findings was then investigated when compared to comprehensive standardized neurodevelopmental assessment results and complete neurological and genetics evaluations. A total of 1024 typically developing infants were enrolled by 9 months, with 14 identified as at risk for autism spectrum disorder and 33 for developmental learning delay. There was a good positive predictive value for the identification of autism spectrum disorder prior to 12 months. This study demonstrates an efficient means to identify infants at risk for autism spectrum disorder by 9 months of age and serves to alert primary care providers of infants who are vulnerable for autism spectrum disorder before symptoms are discernible by clinical judgment of primary care providers, parental concerns, or by screening questionnaires.

  19. An examination of Anglo and Latino parenting practices: relation to behavior problems in children with or without developmental delay.

    PubMed

    Marquis, Willa A; Baker, Bruce L

    2014-02-01

    The transactional model of development has received empirical support in research on at-risk children. However, little is known about the role of ethnicity or child delay status (i.e., developmental delay [DD] or typical cognitive development [TD]) in the process of parents adapting to their child's behavior problems and special needs. We examined whether Latina (N=44) and Anglo (N=147) mothers of 3-year-old children with or without DD differed in their use of two parenting practices, maternal scaffolding and sensitivity. We also examined how the status and ethnic groups differed in child behavior problems at ages 3 and 5 and whether parenting predicted change in behavior problems over time in the ethnic and status groups. Analyses generally supported previous research on status group differences in behavior problems (DD higher) and parenting practices (TD higher). Parenting practices predicted a decrease in externalizing problems from child age 3 to 5 years among Latino families only. Child developmental status was not associated with change in behavior problems. Cultural perspectives on the transactional model of development and implications for intervention are discussed.

  20. Interstitial Deletions at 6q14.1q15 Associated with Developmental Delay and a Marfanoid Phenotype

    PubMed Central

    Lowry, R.B.; Chernos, J.E.; Connelly, M.S.; Wyse, J.P.H.

    2013-01-01

    There are a number of reports of interstitial deletions of the long arm of chromosome 6 that have developmental delay and obesity suggesting that this is a distinct phenotype almost like Prader-Willi syndrome. Here we report a patient with a similar deletion but a strikingly different phenotype, one more in keeping with Marfan syndrome, although he does not fulfil the criteria for that syndrome. Array comparative genomic hybridization was performed to investigate a patient with a striking phenotype. This revealed an interstitial deletion of 6q14.1q15. Parental FISH studies were normal, indicating that this is a de novo deletion. Our patient has a completely different phenotype compared to other patients reported to have similar deletions. The common feature is developmental delay, but the body features are quite different in that our patient is tall, strikingly thin with pectus excavatum, scoliosis, skin striae, arachnodactyly, pes planus, cataracts, and a high-arched palate. This contrasts with other patients who have a similar deletion but have short stature and obesity. 6q14.1q15 interstitial deletions can have a very variable phenotype and do not necessarily conform to a clinical recognizable microdeletion syndrome caused by haploinsufficiency of dosage-sensitive genes in that region as proposed by others. PMID:24167463

  1. Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective.

    PubMed

    Doherty, Elaine; O'Connor, Rachel; Zhang, Anna; Lim, Christina; Love, Jennifer M; Ashton, Fern; Claxton, Karen; Gregersen, Nerine; George, Alice M; Love, Donald R

    2013-05-01

    Global developmental delay (GDD) affects ~1-3% of children, many of whom will also have intellectual disability (ID). Fragile X is the major genetic cause of GDD with mental retardation (MR) in males, accounting for ~20% of all X-linked MR. As Fragile X has serious genetic implications, the overwhelming majority of developmental delay (DD) cases referred to our laboratory are concerned with the exclusion of a diagnosis of Fragile X, along with simultaneous karyotype analysis to confirm chromosome aberrations. Critically, molecular laboratories have generally experienced a falling positive detection frequency of Fragile X. In this context, the recent implementation of array‑based techno-logy has significantly increased the likelihood of detecting chromosome aberrations that underpin DD. In the current study, we report a Fragile X mutation detection frequency for DD referrals that is comparable with the falling UK detection frequencies. In addition, we find that there is a 9‑fold greater likelihood of detecting clinically significant chromosomal aberrations than of detecting a full Fragile X mental retardation 1 (FMR1) gene CGG repeat expansion in cases referred on the basis of DD. We propose a more efficent sequential testing algorithm that involves an initial molecular karyotype, cascading to FMR1 gene analysis in the event of a negative result.

  2. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

    PubMed Central

    He, Miao; Kratz, Lisa E.; Michel, Joshua J.; Vallejo, Abbe N.; Ferris, Laura; Kelley, Richard I.; Hoover, Jacqueline J.; Jukic, Drazen; Gibson, K. Michael; Wolfe, Lynne A.; Ramachandran, Dhanya; Zwick, Michael E.; Vockley, Jerry

    2011-01-01

    Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Lemli-Opitz syndrome. We report here the identification of mutations in sterol-C4-methyl oxidase–like gene (SC4MOL) as the cause of an autosomal recessive syndrome in a human patient with psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. This gene encodes a sterol-C4-methyl oxidase (SMO), which catalyzes demethylation of C4-methylsterols in the cholesterol synthesis pathway. C4-Methylsterols are meiosis-activating sterols (MASs). They exist at high concentrations in the testis and ovary and play roles in meiosis activation. In this study, we found that an accumulation of MASs in the patient led to cell overproliferation in both skin and blood. SMO deficiency also substantially altered immunocyte phenotype and in vitro function. MASs serve as ligands for liver X receptors α and β (LXRα and LXRβ), which are important in regulating not only lipid transport in the epidermis, but also innate and adaptive immunity. Deficiency of SMO represents a biochemical defect in the cholesterol synthesis pathway, the clinical spectrum of which remains to be defined. PMID:21285510

  3. Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies

    PubMed Central

    Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent

    2016-01-01

    Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. PMID:26507407

  4. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

    PubMed Central

    Webster, Emily; Cho, Megan T.; Alexander, Nora; Desai, Sonal; Naidu, Sakkubai; Bekheirnia, Mir Reza; Lewis, Andrea; Retterer, Kyle; Juusola, Jane; Chung, Wendy K.

    2016-01-01

    Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP, have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations. PHIP produces multiple protein products, such as PHIP1 (also known as DCAF14), PHIP, and NDRP. PHIP1 is one of the multiple substrate receptors of the proteolytic CUL4-DDB1 ubiquitin ligase complex. CUL4B deficiency has been associated with intellectual disability, central obesity, muscle wasting, and dysmorphic features. The overlapping phenotype associated with CUL4B deficiency suggests that PHIP mutations cause disease through disruption of the ubiquitin ligase pathway. PMID:27900362

  5. The Prevalence of Chromosomal Deletions Relating to Developmental Delay and/or Intellectual Disability in Human Euploid Blastocysts

    PubMed Central

    He, Wenyin; Sun, Xiaofang; Liu, Lian; Li, Man; Jin, Hua; Wang, Wei-Hua

    2014-01-01

    Chromosomal anomalies in human embryos produced by in vitro fertilization are very common, which include numerical (aneuploidy) and structural (deletion, duplication or others) anomalies. Our previous study indicated that chromosomal deletion(s) is the most common structural anomaly accounting for approximately 8% of euploid blastocysts. It is still unknown if these deletions in human euploid blastocysts have clinical significance. In this study, we analyzed 15 previously diagnosed euploid blastocysts that had chromosomal deletion(s) using Agilent oligonucleotide DNA microarray platform and localized the gene location in each deletion. Then, we used OMIM gene map and phenotype database to investigate if these deletions are related with some important genes that cause genetic diseases, especially developmental delay or intellectual disability. As results, we found that the detectable chromosomal deletion size with Agilent microarray is above 2.38 Mb, while the deletions observed in human blastocysts are between 11.6 to 103 Mb. With OMIM gene map and phenotype database information, we found that deletions can result in loss of 81-464 genes. Out of these genes, 34–149 genes are related with known genetic problems. Furthermore, we found that 5 out of 15 samples lost genes in the deleted region, which were related to developmental delay and/or intellectual disability. In conclusion, our data indicates that all human euploid blastocysts with chromosomal deletion(s) are abnormal and transfer of these embryos may cause birth defects and/or developmental and intellectual disabilities. Therefore, the embryos with chromosomal deletion revealed by DNA microarray should not be transferred to the patients, or further gene map and/or phenotype seeking is necessary before making a final decision. PMID:24409323

  6. The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts.

    PubMed

    He, Wenyin; Sun, Xiaofang; Liu, Lian; Li, Man; Jin, Hua; Wang, Wei-Hua

    2014-01-01

    Chromosomal anomalies in human embryos produced by in vitro fertilization are very common, which include numerical (aneuploidy) and structural (deletion, duplication or others) anomalies. Our previous study indicated that chromosomal deletion(s) is the most common structural anomaly accounting for approximately 8% of euploid blastocysts. It is still unknown if these deletions in human euploid blastocysts have clinical significance. In this study, we analyzed 15 previously diagnosed euploid blastocysts that had chromosomal deletion(s) using Agilent oligonucleotide DNA microarray platform and localized the gene location in each deletion. Then, we used OMIM gene map and phenotype database to investigate if these deletions are related with some important genes that cause genetic diseases, especially developmental delay or intellectual disability. As results, we found that the detectable chromosomal deletion size with Agilent microarray is above 2.38 Mb, while the deletions observed in human blastocysts are between 11.6 to 103 Mb. With OMIM gene map and phenotype database information, we found that deletions can result in loss of 81-464 genes. Out of these genes, 34-149 genes are related with known genetic problems. Furthermore, we found that 5 out of 15 samples lost genes in the deleted region, which were related to developmental delay and/or intellectual disability. In conclusion, our data indicates that all human euploid blastocysts with chromosomal deletion(s) are abnormal and transfer of these embryos may cause birth defects and/or developmental and intellectual disabilities. Therefore, the embryos with chromosomal deletion revealed by DNA microarray should not be transferred to the patients, or further gene map and/or phenotype seeking is necessary before making a final decision.

  7. Examining Parents' Experiences and Information Needs Regarding Early Identification of Developmental Delays: Qualitative Research to Inform a Public Health Campaign

    PubMed Central

    Raspa, Melissa; Levis, Denise M.; Kish-Doto, Julia; Wallace, Ina; Rice, Catherine; Barger, Brian; Green, Katie K.; Wolf, Rebecca B.

    2015-01-01

    Objective The purpose of this study was to assess the approach and materials of Centers for Disease Control and Prevention's “Learn the Signs. Act Early.” (LTSAE) health education campaign, which aims to improve awareness of developmental milestones and early warning signs of developmental delay among parents of young children. Methods We conducted 2 phases of qualitative research. Focus groups assessed the campaign's objectives by exploring the experiences of parents with children who have developmental delays or disabilities to determine facilitators of and barriers to identification. In-depth interviews were conducted with parents of typically developing children, who reviewed campaign materials and provided feedback on appropriateness, appeal, and clarity with regard to the campaign's objectives. Results Phase 1: Parents were typically the first to express concern about their child's development, and most talked with their child's health care provider. Two categories of health care providers emerged: those who proactively asked about a child's development, used tools to facilitate conversations, and made referrals, and those who did not ask about development, told parents to “wait and see,” and did not provide information about services and supports. Few parents knew about special education services before identification. Phase 2: Participants found the campaign materials appealing, but were unclear about how to act early and why acting early was important. Conclusions Results affirmed LTSAE's evidence-based approach to educating parents about child development. Additional campaign considerations include providing more information about how to act early and why acting early is important and enhancing outreach to providers to help them communicate with concerned parents. PMID:26414090

  8. Effects of an App Incorporating Systematic Instruction to Teach Spelling to Students with Developmental Delays

    ERIC Educational Resources Information Center

    Ault, Melinda Jones; Baggerman, Melanie A.; Horn, Channon K.

    2017-01-01

    This study used a multiple probe (conditions) design across behaviors to investigate the effects of an app for the tablet computer to teach spelling of academic content words to four students with developmental disabilities. The app delivered instruction using a model-lead-test format and students typed on the on-screen keyboard. The study also…

  9. Early Identification of Developmental Delays through Surveillance, Screening, and Diagnostic Evaluation

    ERIC Educational Resources Information Center

    Pizur-Barnekow, Kris; Erickson, Stephanie; Johnston, Mark; Bass, Tamicah; Lucinski, Loraine; Bleuel, Dan

    2010-01-01

    Developmental and behavioral problems in young children are prevalent in the United States. While young children experience an increased prevalence of such problems, a lack of early identification services continues to exist. Not only are early identification services required under American law, such as the Individual with Disabilities Education…

  10. Developmental Exposure to an Environmental PCB Mixture Delays the Propagation of Kindling in the Amygdala

    EPA Science Inventory

    Developmental PCB exposure impairs hearing and induces brainstem audiogenic seizures in adult offspring. The degree to which this enhanced susceptibility to seizure is manifest in other brain regions has not been examined. Thus, electrical kindling of the amygdala was used to eva...

  11. Rapamycin treatment causes developmental delay, pigmentation defects, and gastrointestinal malformation on Xenopus embryogenesis

    SciTech Connect

    Moriyama, Yuki; Ohata, Yoshihisa; Mori, Shoko; Matsukawa, Shinya; Michiue, Tatsuo; Asashima, Makoto; Kuroda, Hiroki

    2011-01-28

    Research highlights: {yields} Does famous anti-aging drug rapamycin work from the beginning of life? The answer is yes. {yields} This study shows that developmental speed of frog embryo was dose-dependently decreased by rapamycin treatment. {yields} In additions, morphogenetic effects such as less pigmentations and gut malformation are occurred by rapamycin. -- Abstract: Rapamycin is a drug working as an inhibitor of the TOR (target of rapamycin) signaling pathway and influences various life phenomena such as cell growth, proliferation, and life span extension in eukaryote. However, the extent to which rapamycin controls early developmental events of amphibians remains to be understood. Here we report an examination of rapamycin effects during Xenopus early development, followed by a confirmation of suppression of TOR downstream kinase S6K by rapamycin treatment. First, we found that developmental speed was declined in dose-dependent manner of rapamycin. Second, black pigment spots located at dorsal and lateral skin in tadpoles were reduced by rapamycin treatment. Moreover, in tadpole stages severe gastrointestinal malformations were observed in rapamycin-treated embryos. Taken together with these results, we conclude that treatment of the drug rapamycin causes enormous influences on early developmental period.

  12. Developmental Exposure to an Environmental PCB Mixture Delays the Propagation of Kindling in the Amygdala

    EPA Science Inventory

    Developmental PCB exposure impairs hearing and induces brainstem audiogenic seizures in adult offspring. The degree to which this enhanced susceptibility to seizure is manifest in other brain regions has not been examined. Thus, electrical kindling of the amygdala was used to eva...

  13. Interdisciplinary Early Intervention for Developmentally Delayed Infants and Young Children: A Family-Oriented Approach.

    ERIC Educational Resources Information Center

    Russell, Fay F.; And Others

    Intended to help developers of early intervention programs for children with developmental disabilities, the book provides philosophy, methods, and procedures based on experiences of the Child Development Center of the University of Tennessee Center for Health Sciences. The first section presents a program description including information on…

  14. A Mental Health Clinic for Toddlers with Developmental Delays and Behavior Problems

    ERIC Educational Resources Information Center

    Fox, Robert A.; Keller, Kathryn M.; Grede, Patricia L.; Bartosz, Ann M.

    2007-01-01

    A mental health clinic was developed for toddlers with developmental disabilities and significant behavior problems from families living in poverty. The clinic was a collaborative effort between a community-based Birth-to-Three agency and a university. The purpose of this clinic was threefold: to provide direct mental health services for these…

  15. Interdisciplinary Early Intervention for Developmentally Delayed Infants and Young Children: A Family-Oriented Approach.

    ERIC Educational Resources Information Center

    Russell, Fay F.; And Others

    Intended to help developers of early intervention programs for children with developmental disabilities, the book provides philosophy, methods, and procedures based on experiences of the Child Development Center of the University of Tennessee Center for Health Sciences. The first section presents a program description including information on…

  16. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

    PubMed

    Boyle, Lia; Wamelink, Mirjam M C; Salomons, Gajja S; Roos, Birthe; Pop, Ana; Dauber, Andrew; Hwa, Vivian; Andrew, Melissa; Douglas, Jessica; Feingold, Murray; Kramer, Nancy; Saitta, Sulagna; Retterer, Kyle; Cho, Megan T; Begtrup, Amber; Monaghan, Kristin G; Wynn, Julia; Chung, Wendy K

    2016-06-02

    Whole-exome sequencing (WES) is increasingly being utilized to diagnose individuals with undiagnosed disorders. Developmental delay and short stature are common clinical indications for WES. We performed WES in three families, using proband-parent trios and two additional affected siblings. We identified a syndrome due to an autosomal-recessively inherited deficiency of transketolase, encoded by TKT, on chromosome 3p21. Our series includes three families with a total of five affected individuals, ranging in age from 4 to 25 years. Two families of Ashkenazi Jewish ancestry were homozygous for an 18 base pair in-frame insertion in TKT. The third family was compound heterozygous for nonsense and missense variants in TKT. All affected individuals had short stature and were developmentally delayed. Congenital heart defects were noted in four of the five affected individuals, and there was a history of chronic diarrhea and cataracts in the older individuals with the homozygous 18 base pair insertion. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth. NADPH is also critical for maintaining cerebral glutathione, which might contribute to the neurodevelopmental delays. Transketolase deficiency is one of a growing list of inborn errors of metabolism in the non-oxidative part of the pentose phosphate pathway. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  17. Modulating Tone to Promote Motor Development Using a Neurofacilitation of Developmental Reaction (NFDR) Approach in Children with Neurodevelopmental Delay

    PubMed Central

    Batra, Vijay; Batra, Meenakshi; Pandey, Ravindra Mohan; Sharma, Vijai Prakash; Agarwal, Girdhar Gopal

    2015-01-01

    Objective To compare the efficacy of a Neurofacilitation of Developmental Reaction (NFDR) approach with that of a Conventional approach in the modulation of tone in children with neurodevelopmental delay. Methods Experimental control design. A total of 30 spastic children ranging in age from 4 to 7 years with neurodevelopmental delay were included. Baseline evaluations of muscle tone and gross motor functional performance abilities were performed. The children were allocated into two intervention groups of 15 subjects each. In groups A and B, the NFDR and conventional approaches were applied, respectively, for 3 months and were followed by subsequent re-evaluations. Results Between group analyses were performed using independent t test for tone and primitive reflex intensity and a Mann-Whitney U test for gross motor functional ability. For the within-group analyses, paired t tests were used for tone and primitive reflex intensity, and a Wilcoxon signed-rank test was used for gross motor functional ability. Conclusion The NFDR approach/technique prepares the muscle to undergo tonal modulation and thereby enhances motor development and improves the motor functional performance abilities of the children with neurodevelopmental delay. PMID:28239268

  18. Maternal supportive and interfering control as predictors of adaptive and social development in children with and without developmental delays.

    PubMed

    Green, S; Caplan, B; Baker, B

    2014-08-01

    Parents of children with developmental delays (DD) have been found to use more controlling behaviour with their children than parents of children with typical development (TD). While controlling behaviour is related to poorer developmental outcomes in TD children, there is little research on how it predicts outcomes in DD children. Furthermore, existing research tends to use inconsistent or non-specific definitions of controlling behaviour, often combining parent control which follows the child's goal (e.g. supportive direction) and that which interferes with the child's goal (e.g. interference). Participants were 200 mother-child dyads observed at child age 3, with follow-up assessments of adaptive behaviour and social skills administered at child ages 5 and 6, respectively. We coded the frequency of both types of controlling behaviour based on mothers' interactions with their children with TD (n = 113) or DD (n = 87) at age 3. Mothers in the DD group used more interfering but not more supportive directive acts compared to mothers in the TD group. Adaptive behaviour was assessed at child age 5 and social skills were assessed at age 6. Higher frequency of supportive directive acts predicted better adaptive functioning for the TD group and better social skills for the DD group. Higher frequency of interfering acts predicted lower adaptive and social skills for children with DD but not with TD. Results are discussed in terms of the differential developmental needs of children with and without DD as well as implications for early intervention. © 2013 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  19. Parental Accounts of Home-Based Literacy Processes: Contexts for Infants and Toddlers with Developmental Delays

    ERIC Educational Resources Information Center

    Goin, Robin P.; Nordquist, Vey M.; Twardosz, Sandra

    2004-01-01

    The early childhood years are critical for literacy development, and there is evidence that the home environments of young children with delays or disabilities are not as rich in literacy opportunities as those of their typically developing peers. The purpose of this study was to obtain information about how parents of infants and toddlers with…

  20. Parental Accounts of Home-Based Literacy Processes: Contexts for Infants and Toddlers with Developmental Delays

    ERIC Educational Resources Information Center

    Goin, Robin P.; Nordquist, Vey M.; Twardosz, Sandra

    2004-01-01

    The early childhood years are critical for literacy development, and there is evidence that the home environments of young children with delays or disabilities are not as rich in literacy opportunities as those of their typically developing peers. The purpose of this study was to obtain information about how parents of infants and toddlers with…

  1. Simple Mindreading Abilities Predict Complex Theory of Mind: Developmental Delay in Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Pino, Maria Chiara; Mazza, Monica; Mariano, Melania; Peretti, Sara; Dimitriou, Dagmara; Masedu, Francesco; Valenti, Marco; Franco, Fabia

    2017-01-01

    Theory of mind (ToM) is impaired in individuals with autism spectrum disorders (ASD). The aims of this study were to: (i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and (ii) to assess if a ToM simple test known as eyes-test could predict performance on…

  2. Comparability of the Vineland Social Maturity Scale and the Vineland Adaptive Behavior Scale--survey form with infants evaluated for developmental delay.

    PubMed

    Raggio, D J; Massingale, T W

    1990-10-01

    The Vineland Social Maturity Scale and its revision, the Vineland Adaptive Behavior Scale-Survey Form, were evaluated with infants referred for suspected developmental delay. Since the latter is being used more often by psychologists in evaluation and placement of children in the age group of birth to two years, comparative studies must ensure appropriate placement of children observed to have developmental delays. The present study indicated significantly higher over-all adaptive functioning on the Vineland Adaptive Behavior Scale-Survey Form for 33 black and 11 white infants of mean age 12 mo. than on the original Vineland scales. Substituting the Survey Form for the original Vineland scales when evaluating developmentally delayed infants is questionable. These results are also noteworthy in that children whose Vineland Social Maturity scaled scores make them eligible for special services would be excluded if the revised form were used in the evaluation process.

  3. Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

    PubMed Central

    2012-01-01

    Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP) cohort of 97 subjects with autism spectrum disorders (ASDs) and identified an ~ 5.4 Mb deletion on chromosome 6p22.3-p23 in a 15-year-old patient with intellectual disability and ASDs. Subsequent database queries revealed five additional individuals with overlapping submicroscopic deletions and presenting with developmental and speech delay, seizures, behavioral abnormalities, heart defects, and dysmorphic features. The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay. PMID:22480366

  4. Comparative Evaluation between Diameter Difference of the Thumb and Asymmetry of Lateral Cerebral Ventricles in Children with Developmental Delay: A New Finding

    PubMed Central

    KEIHANI DOUST, Zarintaj; SHARIAT, Mamak; RAHIMIAN, Elham; TEHRANI, Fatemeh; SADDIGHI, Gholamreza

    2015-01-01

    Objective Anthropometry (measurement of body dimensions) has been used for clinical diagnosis of growth and developmental disorders during pregnancy and after birth. Different brain volumes have also been shown in abnormal developmental disorders. This study compares the different horizontal diameters of the left- and right-hand thumbnails and asymmetry of lateral cerebral ventricles in children with developmental delays. Materials & Methods This retrospective case control study was carried out in the Pediatric Neurologic Outpatient of a university hospital in Tehran, Iran (2009–2011). Twenty-eight patients with motor developmental disorders (case) and 28 healthy individuals (control) had brain MRIs and volume of lateral cerebral ventricles size had been studied. The maximum horizontal diameters of the left and right thumbnails were measured by calipers during physical and neurological exams by a pediatric neurologist. Finally, we compared and analyzed different horizontal diameters of the left and right hand thumbnails and asymmetry of lateral cerebral ventricles. Results There was a significant correlation between asymmetry of brain lateral ventricles size and mean difference of horizontal diameter of thumb nails (P = 0.0001). A meaningful relation between brain hemispheres asymmetry and developmental delay (P = 0.04) was seen. Conclusion The asymmetry of thumbnails can be a marker for asymmetry of lateral ventricles and child developmental delays. PMID:26401147

  5. Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.

    PubMed

    Vogel, Ida; Lyngbye, Troels; Nielsen, Alice; Pedersen, Søren; Hertz, Jens Michael

    2009-03-01

    We report on a 5-year-old girl with Pallister-Killian syndrome (OMIM #601803) due to mosaicism of two supernumerary isochromosomes (hexasomy 12p). Hexasomy 12p was found in 20% of the cells by chromosome analysis of cultured skin fibroblasts and confirmed by FISH- and arrayCGH analysis. The girl has woolly and sparse hair, absence of lateral eyebrows, dry skin, brittle nails, hypopigmented patches, frontal bossing, hearing loss, hypertrophic dilated cardiomyopathy, polydactyly, and mild developmental delay. This is the second live case of mosaicism for hexasomy 12p to be reported. A gene-dosage hypothesis has previously suggested that cases with hexasomy 12p would have a worse phenotype than cases with tetrasomy 12p. The relatively mild symptoms found in the current girl with hexasomy 12p may to contradict this hypothesis.

  6. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

    PubMed

    Whibley, Annabel; Urquhart, Jill; Dore, Jonathan; Willatt, Lionel; Parkin, Georgina; Gaunt, Lorraine; Black, Graeme; Donnai, Dian; Raymond, F Lucy

    2010-10-01

    Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3-p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypotonia and stereotypical hand movements. The clinical features accord with published reports of larger microdeletions and selective MAO-A and MAO-B deficiencies in humans and mouse models and suggest considerable functional compensation between MAO-A and MAO-B under normal conditions.

  7. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

    PubMed

    Moskowitz, Abby M; Belnap, Newell; Siniard, Ashley L; Szelinger, Szabolcs; Claasen, Ana M; Richholt, Ryan F; De Both, Matt; Corneveaux, Jason J; Balak, Chris; Piras, Ignazio S; Russell, Megan; Courtright, Amanda L; Rangasamy, Sampath; Ramsey, Keri; Craig, David W; Narayanan, Vinodh; Huentelman, Matt J; Schrauwen, Isabelle

    2016-09-01

    Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes.

  8. Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.

    PubMed

    Smyk, Marta; Poluha, Anna; Jaszczuk, Ilona; Bartnik, Magdalena; Bernaciak, Joanna; Nowakowska, Beata

    2016-05-01

    Neurodevelopmental disorders have long been associated with chromosomal abnormalities, including microdeletions and microduplications. Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developmental delay (DD)/intellectual disability (ID) or autism spectrum disorders (ASDs) and/or macrocephaly. Recently, disruptive CHD8 mutations were described in patients with similar phenotypes further showing pivotal role of CHD8 gene in the pathogenesis of DD/ID or ASDs. We report here the first case of ~445 kb de novo microduplication, encompassing the minimal critical 14q11.2 deletion region, in 8-year-old boy showing DD, cognitive impairment and facial dysmorphism. Our results suggest that gain of the chromosomal region 14q11.2 is causative for clinical findings present in the patient.

  9. Longitudinal assessment of stereotypic, proto-injurious, and self-injurious behavior exhibited by young children with developmental delays.

    PubMed

    Richman, David M; Lindauer, Steven E

    2005-11-01

    Twelve children (CA, 12 to 32 months) with developmental delay were observed in their homes during monthly analogue functional analysis probes to document patterns of emerging self-injurious behavior. Two patterns of emerging self-injury were observed for 5 participants: (a) The topography and functional analysis pattern remained the same, but the behavior eventually caused tissue damage; or (b) a new topography emerged that was similar to an established stereotypic motor behavior. Functional analysis results were inconclusive for the majority of target behaviors across participants due to undifferentiated responding across conditions. One participant exhibited two topographies that appeared to become sensitive to positive reinforcement over time. Results are discussed in terms of implications for future research on early intervention and prevention of self-injury.

  10. Vitamin B12 deficiency with intrinsic factor antibodies in an infant with poor growth and developmental delay.

    PubMed

    McNeil, Kathleen; Chowdhury, Dhiman; Penney, Lynette; Rashid, Mohsin

    2014-02-01

    Vitamin B12 deficiency is very rare in infants and may lead to serious hematological and neurodevelopmental abnormalities. The present article describes a case involving a seven-month-old boy with severe vitamin B12 deficiency, likely caused by juvenile pernicious anemia, an entity rarely described. The child presented with feeding intolerance, poor growth and developmental delay. He was noted to have macrocytic anemia, a markedly low serum vitamin B12 level, and elevated homocysteine and methylmalonic acid levels. Antibodies to intrinsic factor were positive. The mother was healthy, with normal vitamin B12 status. Therapy with vitamin B12 supplements led to excellent recovery of symptoms. Vitamin B12 deficiency should be considered in children presenting with failure to thrive, especially when compounded with neurological symptoms. Early diagnosis and adequate treatment is essential to avoid serious complications.

  11. Conditional deletion of Dicer in vascular smooth muscle cells leads to the developmental delay and embryonic mortality

    SciTech Connect

    Pan, Yaoqian; Balazs, Louisa; Tigyi, Gabor; Yue, Junming

    2011-05-13

    Highlights: {yields} Deletion of Dicer in vascular smooth muscle cells(VSMCs) leads to embryonic mortality. {yields} Loss of Dicer in VSMCs leads to developmental delay. {yields} Loss of Dicer in VSMCs leads to hemorrhage in various organs including brain, skin and liver. {yields} Loss of Dicer in VSMCs leads to vascular wall remodeling. {yields} Loss of Dicer in VSMCs dysregulates the expression of miRNA and VSMC marker genes. -- Abstract: Dicer is a RNAase III enzyme that cleaves double stranded RNA and generates small interfering RNA (siRNA) and microRNA (miRNA). The goal of this study is to examine the role of Dicer and miRNAs in vascular smooth muscle cells (VSMCs). We deleted Dicer in VSMCs of mice, which caused a developmental delay that manifested as early as embryonic day E12.5, leading to embryonic death between E14.5 and E15.5 due to extensive hemorrhage in the liver, brain, and skin. Dicer KO embryos showed dilated blood vessels and a disarray of vascular architecture between E14.5 and E15.5. VSMC proliferation was significantly inhibited in Dicer KOs. The expression of VSMC marker genes were significantly downregulated in Dicer cKO embryos. The vascular structure of the yolk sac and embryo in Dicer KOs was lost to an extent that no blood vessels could be identified after E15.5. Expression of most miRNAs examined was compromised in VSMCs of Dicer KO. Our results indicate that Dicer is required for vascular development and regulates vascular remodeling by modulating VSMC proliferation and differentiation.

  12. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

    PubMed Central

    Trump, Natalie; McTague, Amy; Brittain, Helen; Papandreou, Apostolos; Meyer, Esther; Ngoh, Adeline; Palmer, Rodger; Morrogh, Deborah; Boustred, Christopher; Hurst, Jane A; Jenkins, Lucy; Kurian, Manju A; Scott, Richard H

    2016-01-01

    Background We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. Methods In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, we analysed 46 genes using a combination of targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. Results We identified causative mutations in 71/400 patients (18%). The diagnostic rate was highest among those with seizure onset within the first two months of life (39%), although overall it was similar in those with and without seizures. The most frequently mutated gene was SCN2A (11 patients, 3%). Other recurrently mutated genes included CDKL5, KCNQ2, SCN8A (six patients each), FOXG1, MECP2, SCN1A, STXBP1 (five patients each), KCNT1, PCDH19, TCF4 (three patients each) and ATP1A3, PRRT2 and SLC9A6 (two patients each). Mutations in EHMT1, GABRB3, LGI1, MBD5, PIGA, UBE3A and ZEB2 were each found in single patients. We found mutations in a number of genes in patients where either the electroclinical features or dysmorphic phenotypes were atypical for the identified gene. In only 11 cases (15%) had the clinician sufficient certainty to specify the mutated gene as the likely cause before testing. Conclusions Our data demonstrate the considerable utility of a gene panel approach in the diagnosis of patients with early-onset epilepsy and severe developmental delay disorders., They provide further insights into the phenotypic spectrum and genotype–phenotype correlations for a number of the causative genes and emphasise the value of exon-level copy number testing in their analysis. PMID:26993267

  13. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

    PubMed

    Trump, Natalie; McTague, Amy; Brittain, Helen; Papandreou, Apostolos; Meyer, Esther; Ngoh, Adeline; Palmer, Rodger; Morrogh, Deborah; Boustred, Christopher; Hurst, Jane A; Jenkins, Lucy; Kurian, Manju A; Scott, Richard H

    2016-05-01

    We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, we analysed 46 genes using a combination of targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. We identified causative mutations in 71/400 patients (18%). The diagnostic rate was highest among those with seizure onset within the first two months of life (39%), although overall it was similar in those with and without seizures. The most frequently mutated gene was SCN2A (11 patients, 3%). Other recurrently mutated genes included CDKL5, KCNQ2, SCN8A (six patients each), FOXG1, MECP2, SCN1A, STXBP1 (five patients each), KCNT1, PCDH19, TCF4 (three patients each) and ATP1A3, PRRT2 and SLC9A6 (two patients each). Mutations in EHMT1, GABRB3, LGI1, MBD5, PIGA, UBE3A and ZEB2 were each found in single patients. We found mutations in a number of genes in patients where either the electroclinical features or dysmorphic phenotypes were atypical for the identified gene. In only 11 cases (15%) had the clinician sufficient certainty to specify the mutated gene as the likely cause before testing. Our data demonstrate the considerable utility of a gene panel approach in the diagnosis of patients with early-onset epilepsy and severe developmental delay disorders., They provide further insights into the phenotypic spectrum and genotype-phenotype correlations for a number of the causative genes and emphasise the value of exon-level copy number testing in their analysis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  14. Endocannabinoid signals in the developmental programming of delayed-onset neuropsychiatric and metabolic illnesses.

    PubMed

    Keimpema, Erik; Calvigioni, Daniela; Harkany, Tibor

    2013-12-01

    It is increasingly recognized that maternal exposure to metabolic (nutritional) stimuli, infections, illicit or prescription drugs and environmental stressors during pregnancy can predispose affected offspring to developing devastating postnatal illnesses. If detrimental maternal stimuli coincide with critical periods of tissue production and organogenesis then they can permanently derail key cellular differentiation programs. Maternal programming can thus either provoke developmental failure directly ('direct hit') or introduce latent developmental errors that enable otherwise sub-threshold secondary stressors to manifest as disease ('double hit') postnatally. Accumulating evidence suggests that nervous system development is tightly controlled by maternal metabolic stimuli, and whose synaptic wiring and integrative capacity are adversely affected by dietary and hormonal challenges, infections or episodes of illicit drug use. Endocannabinoids, a family of signal lipids derived from polyunsaturated fatty acids, have been implicated in neuronal fate determination, the control of axonal growth, synaptogenesis and synaptic neurotransmission. Therefore the continuum and interdependence of endocannabinoid actions during the formation and function of synapses together with dynamic changes in focal and circulating endocannabinoid levels upon maternal nutritional imbalance suggest that endocannabinoids can execute the 'reprogramming' of specific neuronal networks. In the present paper, we review molecular evidence suggesting that maternal nutrition and metabolism during pregnancy can affect the formation and function of the hippocampus and hypothalamus by altering endocannabinoid signalling such that neuropsychiatric diseases and obesity respectively ensue in affected offspring. Moreover, we propose that the placenta, fetal adipose and nervous tissues interact via endocannabinoid signals. Thus endocannabinoids are hypothesized to act as a molecular substrate of maternal

  15. Cognitive-behavioral treatment for specific phobias with a child demonstrating severe problem behavior and developmental delays.

    PubMed

    Davis, Thompson E; Kurtz, Patricia F; Gardner, Andrew W; Carman, Nicole B

    2007-01-01

    Cognitive-behavioral treatments (CBTs) are widely used for anxiety disorders in typically developing children; however, there has been no previous attempt to administer CBT for specific phobia (in this case study, one-session treatment) to developmentally or intellectually disabled children. This case study integrates both cognitive-behavioral and behavior analytic assessment techniques in the CBT of water and height phobia in a 7-year-old male with developmental delays and severe behavior problems. One-session treatment [Ost, L. G. (1989). One-session treatment for specific phobias. Behaviour Research and Therapy, 27, 1-7; Ost, L. G. (1997). Rapid treatment of specific phobias. In G. C. L. Davey (Ed.), Phobias: A handbook of theory, research, and treatment (pp. 227-247). New York: Wiley] was provided for water phobia and then 2 months later for height phobia. The massed exposure therapy sessions combined graduated in vivo exposure, participant modeling, cognitive challenges, reinforcement, and other techniques. Both indirect and direct observation measures were utilized to evaluate treatment efficacy. Results suggested CBT reduced or eliminated behavioral avoidance, specific phobia symptoms, and subjective fear. Negative vocalizations were reduced during height exposure following treatment. Vocalizations following treatment for water phobia were less clear and may have been indicative of typical 7-year-old protests during bath time. Findings indicate CBT can be effective for treating clinical fears in an individual with developmental disabilities and severe behavior. Future research in this population should examine CBT as an alternative to other techniques (e.g., forced exposure) for treating fears.

  16. Maternal supportive and interfering control as predictors of adaptive and social development in children with and without developmental delays

    PubMed Central

    Green, S.; Caplan, B.; Baker, B.

    2016-01-01

    Background Parents of children with developmental delays (DD) have been found to use more controlling behaviour with their children than parents of children with typical development (TD). While controlling behaviour is related to poorer developmental outcomes in TD children, there is little research on how it predicts outcomes in DD children. Furthermore, existing research tends to use inconsistent or non-specific definitions of controlling behaviour, often combining parent control which follows the child’s goal (e.g. supportive direction) and that which interferes with the child’s goal (e.g. interference). Methods Participants were 200 mother–child dyads observed at child age 3, with follow-up assessments of adaptive behaviour and social skills administered at child ages 5 and 6, respectively. We coded the frequency of both types of controlling behaviour based on mothers’ interactions with their children with TD (n = 113) or DD (n = 87) at age 3. Results Mothers in the DD group used more interfering but not more supportive directive acts compared to mothers in the TD group. Adaptive behaviour was assessed at child age 5 and social skills were assessed at age 6. Higher frequency of supportive directive acts predicted better adaptive functioning for the TD group and better social skills for the DD group. Higher frequency of interfering acts predicted lower adaptive and social skills for children with DD but not with TD. Conclusions Results are discussed in terms of the differential developmental needs of children with and without DD as well as implications for early intervention. PMID:23865770

  17. Children with developmental language delay at 24 months of age: results of a diagnostic work-up.

    PubMed

    Buschmann, Anke; Jooss, Bettina; Rupp, André; Dockter, Sonja; Blaschtikowitz, Heike; Heggen, Iris; Pietz, Joachim

    2008-03-01

    The aim of this study was to evaluate if a diagnostic work-up should be recommended for 2-year-old children with developmental language delay (LD), or if the widely chosen 'wait and see' strategy is adequate. Children with LD were identified in paediatric practices during routine developmental check-ups using a German parent-report screening questionnaire (adapted from the MacArthur Communicative Development Inventories). A standardized German instrument and the Netherlands version of Bayley Scales of Infant Development (2nd ed.) were used to assess language ability and nonverbal cognitive development respectively in 100 children with LD (65 males, 35 females; mean age 24.7 mo [SD 0.9]) and a control group of 53 children with normal language development (33 males, 20 females; mean age 24.6 mo [SD 0.8]). Neurological and audiometric testing were also performed. Sixty-one per cent of the LD group had specific expressive LD and 17% specific receptive-expressive LD. In 22%, LD was associated with other neurodevelopmental problems, 6% showed significant deficits in nonverbal cognitive abilities, and in 12%, nonverbal cognitive abilities were borderline. Four per cent fulfilled the criteria of childhood autism. LD at 2 years proved to represent a sensitive marker for different developmental problems. Adequate early intervention requires a clear distinction between specific expressive or receptive-expressive LD and LD associated with other neurodevelopmental problems. Though catch-up development is to be expected in a substantial proportion of 'late talkers', our data demonstrate that a general 'wait and see' approach is not justified in young children with LD. A proposal for a rational diagnostic work-up is presented.

  18. Lexical training through modeling and elicitation procedures with late talkers who have specific language impairment and developmental delays.

    PubMed

    Kouri, Theresa A

    2005-02-01

    Late talkers with specific language impairment and developmental delay make up a large portion of our early childhood caseloads; therefore, an understanding of best clinical practices for these populations is essential. Early lexical learning was examined in 2 interactive treatment approaches with 29 late-talking preschoolers with language and developmental disabilities. Children were randomly assigned to either a mand-elicited imitation (MEI) condition in which elicitations and imitative prompts were used or to a modeling with auditory bombardment (Mod-AB) condition in which auditory bombardment and play modeling were incorporated with no response demands on participants. Lexical production of target vocabulary words already comprehended was measured during a 10-session training period and then during two 50-min play interactions with a parent/caretaker in the home after treatment was completed. Results indicated that the MEI procedure was relatively more effective in facilitating frequency and rate of target word learning in the treatment setting, but no significant differences were found between conditions in the number or percentage of target words generalized to the home setting. Mod-AB children produced more target words that were limited to the home setting than did MEI children, whose productivity was more balanced across settings. Treatment by aptitude regression analyses indicated that none of the preintervention language, cognitive, or total development aptitude scores were predictive of child performance in 1 treatment condition or the other, although Battelle Developmental Inventory communication scores and sizes of preintervention lexicons were predictive of child performance across conditions. Empirical and clinical issues pertaining to the efficacy of modeling- and elicitation-based procedures for late-talking preschoolers are discussed.

  19. Developmentally delayed cleavage-stage embryos maintain comparable implantation rates in frozen embryo transfers.

    PubMed

    Burks, Heather; Buckbinder, Jennifer; Francis-Hernandez, Mary; Chung, Karine; Jabara, Sami; Bendikson, Kristin; Paulson, Richard

    2015-10-01

    In fresh IVF cycles, embryos reaching the eight-cell stage on day 3 of development are thought to have a higher chance of implantation than those reaching this stage on day 4. To determine whether this difference persists after cryopreservation, we compared pregnancy and implantation rates between frozen embryo transfer (FET) cycles using delayed cleavage-stage embryos (cryopreserved day 4) and normal cleavage-stage embryos (cryopreserved day 3). Participants underwent FET between 2008 and 2012 using embryos cryopreserved on either day 3 (n = 76) or day 4 (n = 48), depending on the length of time needed to achieve the eight-cell stage. All embryos, regardless of day of cryopreservation, were thawed and transferred on the 4th day of vaginal progesterone following endometrial preparation with oral estradiol. Chi-square and Mann-Whitney U tests were used to compare patient demographics and cycle outcomes. More women in the day 4 group had diminished ovarian reserve (44 vs 16 %, p = 0.003). Pregnancy outcomes in preceding fresh cycles were not different between the two groups. Pregnancy, implantation, and live birth rates following FET did not differ between the day 3 and day 4 groups. This is the first study to address outcomes using day 3 versus day 4 cryopreserved embryos. Despite a higher prevalence of diminished ovarian reserve (DOR) in the day 4 group, delayed cleavage-stage embryos utilized in FET cycles performed as well as embryos growing at the normal rate, suggesting delayed embryo development does not affect embryo implantation as long as endometrial synchrony is maintained.

  20. Self-recognition in young children using delayed versus live feedback: evidence of a developmental asynchrony.

    PubMed

    Povinelli, D J; Landau, K R; Perilloux, H K

    1996-08-01

    The ability of young children to recognize themselves in delayed videotapes and recent photographs was investigated using a delayed analog of the mirror mark test, as well as verbal reports. In Experiment 1, 42 2-4-year-old children were videotaped while playing an unusual game. During the game an experimenter covertly placed a large sticker on the child's head. The videotape was played back 3 min later to the children. Older, but not younger, children reached up to remove the sticker when the tape revealed it being placed on their heads. In Experiment 2, a similar procedure was used with 60 3- and 4-year-olds where Polaroid photographs were taken during and after the act of the sticker being placed on the child's head. When allowed to look at the photographs, young 3-year-olds did not reach up to search for the sticker, whereas older 3- and 4-year-olds did. Almost all of the children who did not appear to realize that there was a sticker on their head from the information provided by the photographs did provide a correct verbal label for the image, and reached up to remove the sticker when presented with a mirror. Experiment 3 compared the reaction of 48 2 1/2-3 1/2-year-olds to live versus delayed video feedback and indicated an effect of the temporal aspect of the stimulus. The results are discussed in the context of the different forms of self-conception that may underwrite the 2 manifestations of self-recognition.

  1. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

    PubMed

    Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana

    2017-02-02

    Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10(-14)). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1.

  2. Loss of Glial Neurofascin155 Delays Developmental Synapse Elimination at the Neuromuscular Junction

    PubMed Central

    Roche, Sarah L.; Sherman, Diane L.; Dissanayake, Kosala; Soucy, Geneviève; Desmazieres, Anne; Lamont, Douglas J.; Peles, Elior; Julien, Jean-Pierre; Wishart, Thomas M.; Ribchester, Richard R.; Brophy, Peter J.

    2014-01-01

    Postnatal synapse elimination plays a critical role in sculpting and refining neural connectivity throughout the central and peripheral nervous systems, including the removal of supernumerary axonal inputs from neuromuscular junctions (NMJs). Here, we reveal a novel and important role for myelinating glia in regulating synapse elimination at the mouse NMJ, where loss of a single glial cell protein, the glial isoform of neurofascin (Nfasc155), was sufficient to disrupt postnatal remodeling of synaptic circuitry. Neuromuscular synapses were formed normally in mice lacking Nfasc155, including the establishment of robust neuromuscular synaptic transmission. However, loss of Nfasc155 was sufficient to cause a robust delay in postnatal synapse elimination at the NMJ across all muscle groups examined. Nfasc155 regulated neuronal remodeling independently of its canonical role in forming paranodal axo–glial junctions, as synapse elimination occurred normally in mice lacking the axonal paranodal protein Caspr. Rather, high-resolution proteomic screens revealed that loss of Nfasc155 from glial cells was sufficient to disrupt neuronal cytoskeletal organization and trafficking pathways, resulting in reduced levels of neurofilament light (NF-L) protein in distal axons and motor nerve terminals. Mice lacking NF-L recapitulated the delayed synapse elimination phenotype observed in mice lacking Nfasc155, suggesting that glial cells regulate synapse elimination, at least in part, through modulation of the axonal cytoskeleton. Together, our study reveals a glial cell-dependent pathway regulating the sculpting of neuronal connectivity and synaptic circuitry in the peripheral nervous system. PMID:25232125

  3. Salivary Alpha Amylase and Cortisol Levels in Children with Global Developmental Delay and Their Relation with the Expectation of Dental Care and Behavior during the Intervention

    ERIC Educational Resources Information Center

    dos Santos, Marcio Jose Possari; Bernabe, Daniel Galera; Nakamune, Ana Claudia de Melo Stevanato; Perri, Silvia Helena Venturoli; de Aguiar, Sandra Maria Herondina Coelho Avila; de Oliveira, Sandra Helena Penha

    2012-01-01

    The purpose of this study was to analyze the alpha-amylase (sAA) and cortisol levels in children with Global developmental delay (GDD) before and after dental treatment and its association with the children's behavior during treatment. The morning salivary cortisol levels and activity of sAA of 33 children with GDD were evaluated before and after…

  4. The Differential Effects of the Use of Handwriting without Tears® Modified Gray Block Paper to Teach Two Preschool Students with Developmental Delays Capital Letter Writing Skills

    ERIC Educational Resources Information Center

    Griffith, Jessica; McLaughlin, T. F.; Neyman, Jen; Donica, Denise K.; Robison, Milena

    2013-01-01

    The purpose of this study was to evaluate and measure the effectiveness of Handwriting Without Tears (HWT) modified gray block paper with letter writing on two preschool students diagnosed with developmental delays in pre-academics. Two students were selected from a self-contained special education preschool classroom in the Pacific Northwest. All…

  5. The Effects of Imitation Instruction Using a Mirror on the Emergence of Duplicative Responses by Preschool Students Diagnosed with Developmental Delays

    ERIC Educational Resources Information Center

    Moreno, Jalene Donica

    2012-01-01

    Using pre-and post-intervention non-concurrent multiple probe designs across participants, I conducted 2 experiments that tested the effects of imitation instruction using a mirror on the emergence of both basic and advanced forms of generalized imitation (GI) involving physical actions with preschool students diagnosed with developmental delays.…

  6. Modeling Skills, Signs and Lettering for Children with Down Syndrome, Autism and Other Severe Developmental Delays by Video Instruction in Classroom Setting

    ERIC Educational Resources Information Center

    Biederman, G. B.; Freedman, B.

    2007-01-01

    This paper addresses optimal strategies in teaching essential life and communication skills to children with Down syndrome, autism and other developmental delays. Evidence from the literature concerning the relative efficacy of hand-over-hand (self-modeling) in contrast to passive observational teaching techniques (e.g., video modeling) shows the…

  7. Language Therapy and Sensory Integration Therapy in Maximizing Language Gains in Developmentally Delayed Preschool Children. Report of Results, May 1983 through April 1984.

    ERIC Educational Resources Information Center

    Tew, Lisa

    The study examined the effects of sensory integration therapy (SIT) on the language development of 15 developmentally delayed preschoolers and the effects of SIT in combination with language therapy. Results of pre- and post-tests using the Sequenced Inventory of Communication Development, and Peabody Picture Vocabulary Test-Revised, and the Mean…

  8. The Effects of Constant Time Delay Embedded into Teaching Activities for Teaching the Names of Clothes for Preschool Children with Developmental Disabilities

    ERIC Educational Resources Information Center

    Odluyurt, Serhat

    2011-01-01

    The general purpose of this study was to examine the effectiveness of constant time delay embedded in activities for teaching clothes name for preschool children with developmental disabilities. This study included four participants having Down syndrome with an age range of 43-46 months. All experimental sessions were conducted in one to one…

  9. Parent Perceptions of the Language Development of Toddlers with Developmental Delays before and after Participation in Parent-Coached Language Interventions

    ERIC Educational Resources Information Center

    Romski, MaryAnn; Sevcik, Rose A.; Adamson, Lauren B.; Smith, Ashlyn; Cheslock, Melissa; Bakeman, Roger

    2011-01-01

    Purpose: This study examined parent perception of early communication development before and after participation in language intervention. Method: Fifty-three parents of toddlers with developmental delays and fewer than 10 spoken words completed the Parent Perception of Language Development, an experimental measure, before and after the children…

  10. Assessing the Effects of the "McGraw Hill Phonemic Awareness" Program with Preschool Children with Developmental Delays: A Case Study

    ERIC Educational Resources Information Center

    Isakson, Lisa; Marchand-Martella, Nancy; Martella, Ronald C.

    2011-01-01

    This study assessed the effects of "McGraw Hill Phonemic Awareness" on the phonemic awareness skills of 5 preschool children with developmental delays. The children received 60 of the 110 lessons included in this program over 5 months. They were pre- and posttested using the kindergarten level Initial Sound Fluency and Phoneme…

  11. Is Maternal Influenza or Fever During Pregnancy Associated with Autism or Developmental Delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study

    ERIC Educational Resources Information Center

    Zerbo, Ousseny; Iosif, Ana-Maria; Walker, Cheryl; Ozonoff, Sally; Hansen, Robin L.; Hertz-Picciotto, Irva

    2013-01-01

    We analyzed data from case groups of 538 children with autism spectrum disorders (ASD) and 163 with developmental delays (DD), and from 421 typically developing controls to assess associations with maternal influenza or fever during pregnancy. Exposure information was obtained by telephone interviews, and outcomes were clinically confirmed. Though…

  12. Salivary Alpha Amylase and Cortisol Levels in Children with Global Developmental Delay and Their Relation with the Expectation of Dental Care and Behavior during the Intervention

    ERIC Educational Resources Information Center

    dos Santos, Marcio Jose Possari; Bernabe, Daniel Galera; Nakamune, Ana Claudia de Melo Stevanato; Perri, Silvia Helena Venturoli; de Aguiar, Sandra Maria Herondina Coelho Avila; de Oliveira, Sandra Helena Penha

    2012-01-01

    The purpose of this study was to analyze the alpha-amylase (sAA) and cortisol levels in children with Global developmental delay (GDD) before and after dental treatment and its association with the children's behavior during treatment. The morning salivary cortisol levels and activity of sAA of 33 children with GDD were evaluated before and after…

  13. Mindfulness-Based Stress Reduction for Parents of Young Children with Developmental Delays: Implications for Parental Mental Health and Child Behavior Problems

    ERIC Educational Resources Information Center

    Neece, Cameron L.

    2014-01-01

    Background: Parents of children with developmental delays (DD) typically report elevated levels of parental stress compared with parents of typically developing children. Children with DD are also at high risk for exhibiting significant behaviour problems. Parental stress has been shown to impact the development of these behaviour problems;…

  14. Is Maternal Influenza or Fever During Pregnancy Associated with Autism or Developmental Delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study

    ERIC Educational Resources Information Center

    Zerbo, Ousseny; Iosif, Ana-Maria; Walker, Cheryl; Ozonoff, Sally; Hansen, Robin L.; Hertz-Picciotto, Irva

    2013-01-01

    We analyzed data from case groups of 538 children with autism spectrum disorders (ASD) and 163 with developmental delays (DD), and from 421 typically developing controls to assess associations with maternal influenza or fever during pregnancy. Exposure information was obtained by telephone interviews, and outcomes were clinically confirmed. Though…

  15. Mitigating the Effects of Poverty and Crime: The Long-Term Effects of an Early Intervention Programme for Children Who Were Developmentally Delayed and Prenatally Exposed to Cocaine

    ERIC Educational Resources Information Center

    Ullery, Mary Anne; Gonzalez, Antonio; Katz, Lynne

    2016-01-01

    This study explores the long-term impact on participation in the Linda Ray Intervention Program (LRIP) for children (n = 54) who were developmentally delayed and prenatally exposed to cocaine. By identifying a group of programme graduates from a high crime/high poverty neighbourhood in Miami-Dade County using ArcGIS 10.2 software, a…

  16. The Effects of Imitation Instruction Using a Mirror on the Emergence of Duplicative Responses by Preschool Students Diagnosed with Developmental Delays

    ERIC Educational Resources Information Center

    Moreno, Jalene Donica

    2012-01-01

    Using pre-and post-intervention non-concurrent multiple probe designs across participants, I conducted 2 experiments that tested the effects of imitation instruction using a mirror on the emergence of both basic and advanced forms of generalized imitation (GI) involving physical actions with preschool students diagnosed with developmental delays.…

  17. Parent Perceptions of the Language Development of Toddlers with Developmental Delays before and after Participation in Parent-Coached Language Interventions

    ERIC Educational Resources Information Center

    Romski, MaryAnn; Sevcik, Rose A.; Adamson, Lauren B.; Smith, Ashlyn; Cheslock, Melissa; Bakeman, Roger

    2011-01-01

    Purpose: This study examined parent perception of early communication development before and after participation in language intervention. Method: Fifty-three parents of toddlers with developmental delays and fewer than 10 spoken words completed the Parent Perception of Language Development, an experimental measure, before and after the children…

  18. Mindfulness-Based Stress Reduction for Parents of Young Children with Developmental Delays: Implications for Parental Mental Health and Child Behavior Problems

    ERIC Educational Resources Information Center

    Neece, Cameron L.

    2014-01-01

    Background: Parents of children with developmental delays (DD) typically report elevated levels of parental stress compared with parents of typically developing children. Children with DD are also at high risk for exhibiting significant behaviour problems. Parental stress has been shown to impact the development of these behaviour problems;…

  19. Mitigating the Effects of Poverty and Crime: The Long-Term Effects of an Early Intervention Programme for Children Who Were Developmentally Delayed and Prenatally Exposed to Cocaine

    ERIC Educational Resources Information Center

    Ullery, Mary Anne; Gonzalez, Antonio; Katz, Lynne

    2016-01-01

    This study explores the long-term impact on participation in the Linda Ray Intervention Program (LRIP) for children (n = 54) who were developmentally delayed and prenatally exposed to cocaine. By identifying a group of programme graduates from a high crime/high poverty neighbourhood in Miami-Dade County using ArcGIS 10.2 software, a…

  20. Comparing Service Delivery Models for Children with Developmental Delays in Canada: Adaptive and Maladaptive Behaviours, Parental Perceptions of Stress and of Care

    ERIC Educational Resources Information Center

    Sladeczek, Ingrid E.; Fontil, Laura; Miodrag, Nancy; Karagiannakis, Anastasia; Amar, Daniel; Amos, Janet

    2017-01-01

    This study compares two service delivery models (community-based and centre-based), examining them in light of children's adaptive and maladaptive behaviours, and parental perceptions of stress and of care. More specifically, parents of 96 children with developmental delays assessed their children's adaptive and maladaptive behaviours and rated…

  1. Linkage of ICF-CY codes with environmental factors in studies of developmental outcomes of infants and toddlers with or at risk for motor delays.

    PubMed

    Hwang, Ai-Wen; Liao, Hua-Fang; Granlund, Mats; Simeonsson, Rune J; Kang, Lin-Ju; Pan, Yi-Ling

    2014-01-01

    Environmental variables have been explored in studies of the development of young children with motor delays. Linking environmental variables to the International Classification of Functioning, Disability and Health - Children and Youth (ICF-CY), environmental factors (EFs) categories can provide a common language for documenting their contribution to developmental outcomes. This review of studies aimed to (1) link EFs for developmental outcomes in infants with or at risk for motor delays to ICF-CY categories and (2) synthesize the influences of EFs (with ICF-CY linkage) on developmental outcomes. A systematic literature search was performed of multiple databases. After applying selection criteria, environmental variables in 28 articles were linked to ICF-CY categories and underwent qualitative synthesis. Results indicated that physical environmental variables could be linked successfully to ICF-CY EFs categories, but not social environmental variables. Multiple environmental variables were associated with motor and other developmental outcomes. Difficulties in linking social factors to ICF-CY categories indicate that additional EFs codes may need to be considered in the ICF-CY revision processes. The review provides empirical data on relationships between EFs and developmental outcomes in children with or at risk for motor delay.

  2. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

    PubMed Central

    Andreoletti, Gaia; Seaby, Eleanor G; Dewing, Jennifer M; O'Kelly, Ita; Lachlan, Katherine; Ennis, Sarah

    2017-01-01

    Background Deletions in the Xq22.3–Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative. We sought to discover a genetic cause for two half-brothers presenting with nephrocalcinosis, early speech and language delay and midface hypoplasia with submucous cleft palate and bifid uvula. Methods Whole exome sequencing was undertaken on maternal half-siblings. In-house genomic analysis included extraction of all shared variants on the X chromosome in keeping with X-linked inheritance. Patient-specific mutants were transfected into three cell lines and microscopically visualised to assess the nuclear expression pattern of the mutant protein. Results In the affected half-brothers, we identified a hemizygous novel non-synonymous variant of unknown significance in AMMECR1 (c.G530A; p.G177D), a gene residing in the AMME disease locus. Transfected cell lines with the p.G177D mutation showed aberrant nuclear localisation patterns when compared with the wild type. Blood films revealed the presence of elliptocytes in the older brother. Conclusions Our study shows that a single missense mutation in AMMECR1 causes a phenotype of midface hypoplasia, mild intellectual disability and the presence of elliptocytes, previously reported as part of a contiguous gene deletion syndrome. Functional analysis confirms mutant-specific protein dysfunction. We conclude that AMMECR1 is a critical gene in the pathogenesis of AMME, causing midface hypoplasia and elliptocytosis and contributing to early speech and language delay, infantile hypotonia and hearing loss, and may play a role in dysmorphism, nephrocalcinosis and submucous cleft palate. PMID:27811305

  3. Developmental hypothyroxinaemia induced by maternal mild iodine deficiency delays hippocampal axonal growth in the rat offspring.

    PubMed

    Wei, W; Wang, Y; Wang, Y; Dong, J; Min, H; Song, B; Teng, W; Xi, Q; Chen, J

    2013-09-01

    Iodine is essential for the biosynthesis of thyroid hormones, including triiodothyronine and thyroxine. Thyroid hormones are important for central nervous system development. Mild maternal iodine deficiency (ID)-induced hypothyroxinaemia causes neurological deficits and mental retardation of the foetus. However, the detailed mechanism underlying these deficits is still largely unknown. Given that the growth-associated protein of 43 kDa (GAP-43), semaphorin 3A (Sema3A) and the glycogen synthase kinase 3β (GSK3β)/collapsin response mediator protein 2 (CRMP2) pathway are essential for axonal development, we hypothesise that hippocampal axonal growth-related proteins may be impaired, which may contribute to hippocampal axonal growth delay in rat offspring exposed to maternal hypothyroxinaemia. To test this hypothesis, maternal hypothyroxinaemia models were established in Wistar rats using a mild ID diet. Besides a negative control group, two maternal hypothyroidism models were created with either a severe ID diet or methimazole in the water. Our results showed that maternal hypothyroxinaemia exposure delayed offspring axonal growth on gestational day 19, postnatal day (PN) 7, PN14 and PN21. Consistent with this, the mean intensity of hippocampal CRMP2 and Tau1 immunofluorescence axonal protein was reduced in the mild ID group. Moreover, maternal hypothyroxinaemia disrupted expressions of GAP-43 and Sema3A. Furthermore, the phosphorylation of GSK3β and CRMP2 was also affected in the treated offspring, implying a potential mechanism by which hypothyroxinaemia-exposure affects neurodevelopment. Taken together, our data support the hypothesis that maternal hypothyroxinaemia may impair axonal growth of the offspring. © 2013 British Society for Neuroendocrinology.

  4. Loss of glial neurofascin155 delays developmental synapse elimination at the neuromuscular junction.

    PubMed

    Roche, Sarah L; Sherman, Diane L; Dissanayake, Kosala; Soucy, Geneviève; Desmazieres, Anne; Lamont, Douglas J; Peles, Elior; Julien, Jean-Pierre; Wishart, Thomas M; Ribchester, Richard R; Brophy, Peter J; Gillingwater, Thomas H

    2014-09-17

    Postnatal synapse elimination plays a critical role in sculpting and refining neural connectivity throughout the central and peripheral nervous systems, including the removal of supernumerary axonal inputs from neuromuscular junctions (NMJs). Here, we reveal a novel and important role for myelinating glia in regulating synapse elimination at the mouse NMJ, where loss of a single glial cell protein, the glial isoform of neurofascin (Nfasc155), was sufficient to disrupt postnatal remodeling of synaptic circuitry. Neuromuscular synapses were formed normally in mice lacking Nfasc155, including the establishment of robust neuromuscular synaptic transmission. However, loss of Nfasc155 was sufficient to cause a robust delay in postnatal synapse elimination at the NMJ across all muscle groups examined. Nfasc155 regulated neuronal remodeling independently of its canonical role in forming paranodal axo-glial junctions, as synapse elimination occurred normally in mice lacking the axonal paranodal protein Caspr. Rather, high-resolution proteomic screens revealed that loss of Nfasc155 from glial cells was sufficient to disrupt neuronal cytoskeletal organization and trafficking pathways, resulting in reduced levels of neurofilament light (NF-L) protein in distal axons and motor nerve terminals. Mice lacking NF-L recapitulated the delayed synapse elimination phenotype observed in mice lacking Nfasc155, suggesting that glial cells regulate synapse elimination, at least in part, through modulation of the axonal cytoskeleton. Together, our study reveals a glial cell-dependent pathway regulating the sculpting of neuronal connectivity and synaptic circuitry in the peripheral nervous system. Copyright © 2014 the authors 0270-6474/14/3412904-15$15.00/0.

  5. Screening for developmental delay in preschool-aged children using parent-completed Ages and Stages Questionnaires: additional insights into child development.

    PubMed

    Abo El Elella, Soheir S; Tawfik, Maha A M; Abo El Fotoh, Wafaa Moustafa M; Barseem, Naglaa Fathy

    2017-10-01

    Developmental delay is a delay in areas of speech, language, motor, social and cognitive development. Because of the negative impact of intellectual and learning disabilities, early identification of children with developmental and behavioral problems using appropriate screening tests is crucial. Utilization of parent-completed Ages and Stages Questionnaires (ASQs) for detecting the developmental delay in preschool age children and clarification of possible associated risk factors. This cross-sectional study was conducted on 1012 children aged 24-60 months enrolled from six centers (n=608) and six villages (n=404) located in Menoufia Governorate, Egypt. All children were screened by nine age-based questionnaires in the first stage of assessment. Children whose scores were ≤ cut-off points in one or more of the screened developmental areas were considered to have suspected developmental delay (SDD) and underwent further evaluation in the second stage assessment. Among the 1012 studied children aged 24-60 months, 978 (96.4%) had normal development. SDD had an overall prevalence of 3.4%, with the highest rates of SDD in problem-solving (3%), followed by communication (2.4%), fine motor skills (2.2%) and social-personal domain (1%), with no SDD in gross motor skills. SDD was more commonly observed in boys, with a significant association with both parental education and consanguinity. Problems with learning (32.3%) was the most commonly observed provisional diagnosis, followed by language disorders (29.4%). Children with SDD in more than one area of ASQ skills also had mild to borderline IQ scores. The use of of parent-completed ASQs showed an overall prevalence of developmental delay in children aged 24-60 months of3.4%. Male gender, consanguinity and parental education were identified as risk factors for developmental delay. Family counselling about the child's developmental state is needed. © Article author(s) (or their employer(s) unless otherwise stated in the

  6. Developmental Delays in Executive Function from 3 to 5 Years of Age Predict Kindergarten Academic Readiness.

    PubMed

    Willoughby, Michael T; Magnus, Brooke; Vernon-Feagans, Lynne; Blair, Clancy B

    Substantial evidence has established that individual differences in executive function (EF) in early childhood are uniquely predictive of children's academic readiness at school entry. The current study tested whether growth trajectories of EF across the early childhood period could be used to identify a subset of children who were at pronounced risk for academic impairment in kindergarten. Using data that were collected at the age 3, 4, and 5 home assessments in the Family Life Project ( N = 1,120), growth mixture models were used to identify 9% of children who exhibited impaired EF performance (i.e., persistently low levels of EF that did not show expected improvements across time). Compared to children who exhibited typical trajectories of EF, the delayed group exhibited substantial impairments in multiple indicators of academic readiness in kindergarten (Cohen's ds = 0.9-2.7; odds ratios = 9.8-23.8). Although reduced in magnitude following control for a range of socioeconomic and cognitive (general intelligence screener, receptive vocabulary) covariates, moderate-sized group differences remained (Cohen's ds = 0.2-2.4; odds ratios = 3.9-5.4). Results are discussed with respect to the use of repeated measures of EF as a method of early identification, as well as the resulting translational implications of doing so.

  7. Depressive and anxiety symptom trajectories from school age through young adulthood in samples with autism spectrum disorder and developmental delay.

    PubMed

    Gotham, Katherine; Brunwasser, Steven M; Lord, Catherine

    2015-05-01

    The objectives of this study were to model growth in anxiety and depressive symptoms from late school age through young adulthood in individuals with autism spectrum disorder (ASD) and controls with developmental delay (DD), and to assess relationships among internalizing growth patterns, participant characteristics, baseline predictors, and distal outcomes. Data were collected between ages 6 and 24 years in 165 participants (n = 109 with ASD; n = 56 with nonspectrum DD), most of whom received diagnostic evaluations in both childhood and early adulthood. Questionnaires were collected approximately every 3 to 6 months between ages 9 and 24 years. Parent-rated Child Behavior Checklist (CBCL), Adult Behavior Checklist (ABCL), and Developmental Behaviour Checklist anxiety- and depression-related subscale distributions were modeled with mixed-effects Poisson models, covarying diagnosis, age, verbal IQ (VIQ), gender, and significant 2- and 3-way interactions. Anxiety was positively associated with VIQ, and controlling for VIQ, both anxiety and depressive symptoms were greater in ASD than nonspectrum participants. Female gender predicted greater increases over time in anxiety and depressive symptoms for both diagnostic groups. Lower maternal education was associated with increasing internalizing symptoms in a subset of less verbal individuals with ASD. In exploratory post hoc analyses, internalizing symptoms were associated with poorer emotional regulation in school age, and with lower life satisfaction and greater social difficulties in early adulthood. Findings support previous claims that individuals with ASD are at particular risk for affect- and anxiety-specific problems. Although symptom levels in females increase at a faster rate throughout adolescence, males with ASD appear to have elevated levels of depressive symptoms in school age that are maintained into young adulthood. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by

  8. Pericentric inversion of chromosome 11 (p14.3q21) associated with developmental delays, hypopigmented skin lesions and abnormal brain MRI findings - a new case report

    SciTech Connect

    Zachor, D.A.; Lofton, M.

    1994-09-01

    We report 3 year old male, referred for evaluation of developmental delays. Pregnancy was complicated by oligohydramnios, proteinuria and prematurity. Medical history revealed: bilateral inguinal hernia, small scrotal sac, undescended testes, developmental delays and behavioral problems. The child had: microcephaly, facial dysmorphic features, single palmar creases, hypopigmented skin lesions of variable size, intermittent exotropia and small retracted testes. Neurological examination was normal. Cognitive level was at the average range with mild delay in his adaptive behavior. Expressive language delays and severe articulation disorder were noted, as well as clumsiness, poor control and precision of gross and fine motor skills. Chromosomal analysis of peripheral leukocytes indicated that one of the number 11 chromosomes had undergone a pericentric inversion with breakpoints on the short (p) arm at band p14.3 and the long (q) arm at band q21. An MRI of the brain showed mild delay in myelinization pattern of white matter. Chromosome 11 inversion in other sites was associated with Beckwith-Wiedemann syndrome and several malignancies. To our knowledge this is the first description of inv(11)(p14.3q21) that is associated with microcephaly, dysmorphic features, hypopigmented skin lesions and speech delay. This inversion may disrupt the expression of the involved genes. However, additional cases with the same cytogenetic anomaly are needed to explore the phenotypic significance of this disorder.

  9. Developmental outcomes in early compared with delayed surgery for glue ear up to age 7 years: a randomised controlled trial.

    PubMed

    Hall, A J; Maw, A R; Steer, C D

    2009-02-01

    To investigate whether early versus delayed surgery for children severely affected by otitis media with effusion (OME) results in improved performance on developmental tests up to age 7 years. Follow-up of a randomised controlled trial. University of Bristol. One hundred and eighty-two children (mean age 35 months) with persistent OME, hearing loss and speech, language or behaviour problems who were originally eligible and randomised to either early surgery or delayed surgery after a period of watchful waiting were followed-up as part of the Avon Longitudinal Study of Parents and Children (ALSPAC) at age 4 1/2 and 7-8 years. Measures included behaviour, language, educational attainment tests, hearing, reading, cognition and coordination. Of the original randomised trial, 88 of 92 of the early surgery and 74 of 90 of the watchful waiting group were still participating in ALSPAC. Analysis was by intention to treat. At age 4 1/2 years there were significant differences in teacher assessment of language (adj OR 3.45, 95% CI: 1.42-8.39) and writing (adj OR 3.74, 95% CI: 1.51-9.27), in favour of early surgery. At age 7-8 years, there was a significant difference on teacher report of emotional problems (adj OR 4.11, 95% CI: 1.15-14.64) in favour of early surgery. There were no other significant differences. Early surgery for the child severely affected by OME may be associated with subtle benefits at age 4 1/2 years. This may continue to 7-8 years but the small study size makes it difficult to distinguish these effects from chance. A larger study is recommended.

  10. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

    PubMed

    Stankiewicz, Paweł; Khan, Tahir N; Szafranski, Przemyslaw; Slattery, Leah; Streff, Haley; Vetrini, Francesco; Bernstein, Jonathan A; Brown, Chester W; Rosenfeld, Jill A; Rednam, Surya; Scollon, Sarah; Bergstrom, Katie L; Parsons, Donald W; Plon, Sharon E; Vieira, Marta W; Quaio, Caio R D C; Baratela, Wagner A R; Acosta Guio, Johanna C; Armstrong, Ruth; Mehta, Sarju G; Rump, Patrick; Pfundt, Rolph; Lewandowski, Raymond; Fernandes, Erica M; Shinde, Deepali N; Tang, Sha; Hoyer, Juliane; Zweier, Christiane; Reis, André; Bacino, Carlos A; Xiao, Rui; Breman, Amy M; Smith, Janice L; Katsanis, Nicholas; Bostwick, Bret; Popp, Bernt; Davis, Erica E; Yang, Yaping

    2017-10-05

    Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for anterior-posterior axis formation of the mouse embryo and was shown to promote posterior neuroectodermal fate by enhancing Smad2-activated wnt8 expression in zebrafish. Here, we report eight loss-of-function and two missense variants (eight de novo and two of unknown origin) in BPTF on 17q24.2. The BPTF variants were found in unrelated individuals aged between 2.1 and 13 years, who manifest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10). Using CRISPR-Cas9 genome editing of bptf in zebrafish to induce a loss of gene function, we observed a significant reduction in head size of F0 mutants compared to control larvae. Terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) and phospho-histone H3 (PH3) staining to assess apoptosis and cell proliferation, respectively, showed a significant increase in cell death in F0 mutants compared to controls. Additionally, we observed a substantial increase of the ceratohyal angle of the craniofacial skeleton in bptf F0 mutants, indicating abnormal craniofacial patterning. Taken together, our data demonstrate the pathogenic role of BPTF haploinsufficiency in syndromic neurodevelopmental anomalies and extend the clinical spectrum of human disorders caused by ablation of chromatin remodeling complexes. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  11. Acetabuloplasties at Open Reduction Prevent Acetabular Dysplasia in Intentionally Delayed Developmental Dysplasia of the Hip: A Case-control Study.

    PubMed

    Carsi, M Belen; Clarke, Nicholas M P

    2016-05-01

    Avascular necrosis (AVN) and residual acetabular dysplasia are the two main complications of developmental dysplasia of the hip (DDH) treatment. Although early reduction of the hip may decrease the incidence of residual dysplasia, it may increase the incidence of AVN and vice versa. However, we do not know if changes in surgical technique may lead to a modification in these outcomes. Does an incomplete periacetabular acetabuloplasty, as an added step to delayed open reduction, (1) diminish the risk of developing acetabular dysplasia; or (2) increase the rate of AVN compared with patients treated with open reduction alone? We conducted a retrospective matched case-control study comparing 22 patients (27 hips) with early isolated DDH who underwent intentionally delayed open reduction and acetabuloplasty from 2004 to 2010 and followed up > 4 years (88% of the cohort) with early historic controls treated with delayed open reduction alone. Of 53 patients available for matching, 45 (85%) had enough followup (> 10 years) to be considered. They were matched one to one for age at presentation and bilaterality (fuzz 45, 0). This generated a control group of 25 patients (27 hips). The mean followup was different between the groups (p < 0.001). Residual dysplasia considered when center-edge angle < 15° (6-13 years old) or < 20° (≥ 14 years old) or as a nonevolving acetabular index > 30° and pelvic osteotomies were used as our primary outcomes. The proportion of patients with AVN was also compared. Patients treated with open reduction and an incomplete periacetabular acetabuloplasty were less likely to develop acetabular dysplasia and undergo pelvic osteotomies than were patients in the control group (0% [zero of 27] versus 37% [10 of 27]; odds ratio [OR], 11; 95% confidence interval [CI], 2-80; p = 0.02 and 0% [zero of 27] versus 26% [seven of 27]; OR, 8; 95% CI, 1-60; p = 0.025, respectively). With the available numbers, there was no difference in terms of the proportion

  12. Developmental Delays and Reduced Pup Ultrasonic Vocalizations but Normal Sociability in Mice Lacking the Postsynaptic Cell Adhesion Protein Neuroligin2

    PubMed Central

    Wöhr, Markus; Silverman, Jill L.; Scattoni, Maria L.; Turner, Sarah M.; Harris, Mark J.; Saxena, Roheeni; Crawley, Jacqueline N.

    2014-01-01

    Mutations in neurexin and neuroligin genes have been associated with neurodevelopmental disabilities including autism. Autism spectrum disorder is diagnosed by aberrant reciprocal social interactions, deficits in social communication, and repetitive, stereotyped patterns of behaviors, along with narrow restricted interests. Mouse models have been successfully used to study physiological and behavioral outcomes of mutations in the trans-synaptic neurexin-neuroligin complex. To further understand the behavioral consequences of NEUROLIGIN2 (NLGN2) mutations, we assessed several behavioral phenotypes relevant to autism in neuroligin2 null (Nlgn2-/-), heterozygote (Nlgn2+/-), and wildtype (Nlgn2+/+) littermate control mice. Reduced breeding efficiency and high reactivity to handling was observed in Nlgn2-/- mice, resulting in low numbers of adult mice available for behavioral assessment. Consistent with previous findings, Nlgn2-/- mice displayed normal social behaviors, concomitant with reduced exploratory activity, impaired rotarod performance, and delays on several developmental milestones. No spontaneous stereotypies or repetitive behaviors were detected. Acoustic, tactile, and olfactory sensory information processing as well as sensorimotor gating were not affected. Nlgn2-/- pups isolated from mother and littermates emitted fewer ultrasonic vocalizations and spent less time calling than Nlgn2+/+ littermate controls. The present findings add to the growing literature on the role of neurexins and neuroligins in physiology and behavior relevant to neurodevelopmental disorders. PMID:22820233

  13. Screening for attention deficit and hyperactivity disorder, autism spectrum disorder, and developmental delay in Taiwanese aboriginal preschool children

    PubMed Central

    Chan, Hsiang-Lin; Liu, Wen-Sheng; Hsieh, Yi-Hsuan; Lin, Chiao-Fan; Ling, Tiing-Soon; Huang, Yu-Shu

    2016-01-01

    Objectives This study aimed to estimate the percentages of attention deficit and hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in Taiwanese aboriginal preschool children. Child development level was compared between the two groups. Methods Teachers completed screening questionnaires for ADHD, ASD, and development level for 36- to 72-month-old children in kindergartens in Taiwan. The questionnaire results were compared between the aboriginal and nonaboriginal children. One child psychiatrist then interviewed the aboriginal preschool children to determine if they had ADHD and/or ASD. Results We collected 93 questionnaires from the aboriginal group and 60 from the nonaboriginal group. In the aboriginal group, 5.37% of the children were identified to have ADHD, while 1.08% were identified to have ASD. Significantly fewer aboriginal children had developmental delays for situation comprehension and personal–social development (P=0.012 and 0.002, respectively) than nonaboriginal children. Conclusion Aboriginal children in Taiwan had typical percentages of ADHD and ASD compared to those published in the literature. Aboriginal children showed relative strengths in situation comprehension and personal–social skills. Further studies are required to understand the learning styles of the aboriginal children and to develop effective screening and intervention strategies for ADHD and ASD. PMID:27785028

  14. [Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].

    PubMed

    Hu, Ting; Zhu, Hongmei; Zhang, Zhu; Wang, Jiamin; Liu, Hongqian; Zhang, Xuemei; Zhang, Haixia; Du, Ze; Li, Lingping; Wang, He; Liu, Shanling

    2017-04-10

    To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV). CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.

  15. The efficacy of treatment for children with developmental speech and language delay/disorder: a meta-analysis.

    PubMed

    Law, James; Garrett, Zoe; Nye, Chad

    2004-08-01

    A meta-analysis was carried out of interventions for children with primary developmental speech and language delays/disorders. The data were categorized depending on the control group used in the study (no treatment, general stimulation, or routine speech and language therapy) and were considered in terms of the effects of intervention on expressive and receptive phonology, syntax, and vocabulary. The outcomes used in the analysis were dependent on the aims of the study; only the primary effects of intervention are considered in this review. These were investigated at the level of the target of therapy, measures of overall linguistic development, and broader measures of linguistic functioning taken from parent report or language samples. Thirty-six articles reporting 33 different trials were found. Of these articles, 25 provided sufficient information for use in the meta-analyses; however, only 13 of these, spanning 25 years, were considered to be sufficiently similar to be combined. The results indicated that speech and language therapy might be effective for children with phonological or expressive vocabulary difficulties. There was mixed evidence concerning the effectiveness of intervention for children with expressive syntax difficulties and little evidence available considering the effectiveness of intervention for children with receptive language difficulties. No significant differences were found between interventions administered by trained parents and those administered by clinicians. The review identified longer duration (>8 weeks) of therapy as being a potential factor in good clinical outcomes. A number of gaps in the evidence base are identified.

  16. A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

    PubMed

    Naseer, Muhammad Imran; Rasool, Mahmood; Jan, Mohammed M; Chaudhary, Adeel G; Pushparaj, Peter Natesan; Abuzenadah, Adel M; Al-Qahtani, Mohammad H

    2016-12-15

    PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly. Whole exome sequencing with 100× coverage was performed on two affected siblings of the family. Data analysis in the patient revealed a novel missense mutation c.191C>T in PGAP2 gene resulting in Alanine to Valine substitution (Ala64Val). The mutation was reconfirmed and validated by subsequent Sanger sequencing method. The mutation was ruled out in 100 unrelated healthy controls. We suggest that this pathogenic mutation disrupts the proper function of the gene proteins resulting in the disease state.

  17. Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder

    PubMed Central

    Shin, Saeam; Yu, Nae; Choi, Jong Rak; Jeong, Seri

    2015-01-01

    Background All over the world, chromosomal microarray (CMA) is now the first tier diagnostic assay for genetic testing to evaluate developmental delay (DD), mental retardation (MR), and autism spectrum disorder (ASD) with unknown etiology. The average diagnostic yield of the CMA test is known to be about 12.2%, while that of conventional G-banding karyotype is below 3%. This study aimed to assess the usefulness of CMA for the purpose of clinical diagnostic testing in the Korean population. Methods We performed CMA and multiplex ligation-dependent probe amplification (MLPA) tests in 96 patients with normal karyotype and unexplained DD, MR, or ASD. The CMA was conducted with CytoScan 750K array (Affymetrix, USA) with an average resolution of 100 kb. Results Pathogenic copy number variations (CNVs) were detected in 15 patients by CMA and in two patients by MLPA for four known microdeletion syndromes (Prader-Willi/Angelman syndrome, DiGeorge syndrome, Miller-Dieker syndrome and Williams syndrome) designated by National Health Insurance system in Korea. The diagnostic yield was 15.6% and 2.1%, respectively. Thirteen (13.5%) patients (excluding cases with pathogenic CNVs) had variants of uncertain clinical significance. There was one patient with a 17.1-megabase (Mb) region of homozygosity on chromosome 4q. Conclusions Our findings suggest the necessity of CMA as a routine diagnostic test for unexplained DD, MR, and ASD in Korea. PMID:26206688

  18. A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

    PubMed Central

    Girirajan, Santhosh; Rosenfeld, Jill A.; Cooper, Gregory M.; Antonacci, Francesca; Siswara, Priscillia; Itsara, Andy; Vives, Laura; Walsh, Tom; McCarthy, Shane E.; Baker, Carl; Mefford, Heather C.; Kidd, Jeffrey M.; Browning, Sharon R.; Browning, Brian L.; Dickel, Diane E.; Levy, Deborah L.; Ballif, Blake C.; Platky, Kathryn; Farber, Darren M.; Gowans, Gordon C.; Wetherbee, Jessica J.; Asamoah, Alexander; Weaver, David D.; Mark, Paul R.; Dickerson, Jennifer; Garg, Bhuwan P.; Ellingwood, Sara A.; Smith, Rosemarie; Banks, Valerie C.; Smith, Wendy; McDonald, Marie T.; Hoo, Joe J.; French, Beatrice N.; Hudson, Cindy; Johnson, John P.; Ozmore, Jillian R.; Moeschler, John B.; Surti, Urvashi; Escobar, Luis F.; El-Kechen, Dima; Gorski, Jerome L.; Kussman, Jennifer; Salbert, Bonnie; Lacassie, Yves; Biser, Alisha; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Deardorff, Matthew A.; Shaikh, Tamim H.; Haan, Eric; Friend, Kathryn L.; Fichera, Marco; Romano, Corrado; Gécz, Jozef; deLisi, Lynn E.; Sebat, Jonathan; King, Mary-Claire; Shaffer, Lisa G.; Eichler, Evan E.

    2010-01-01

    We report the identification of a recurrent 520-kbp 16p12.1 microdeletion significantly associated with childhood developmental delay. The microdeletion was detected in 20/11,873 cases vs. 2/8,540 controls (p=0.0009, OR=7.2) and replicated in a second series of 22/9,254 cases vs. 6/6,299 controls (p=0.028, OR=2.5). Most deletions were inherited with carrier parents likely to manifest neuropsychiatric phenotypes (p=0.037, OR=6). Probands were more likely to carry an additional large CNV when compared to matched controls (10/42 cases, p=5.7×10-5, OR=6.65). Clinical features of cases with two mutations were distinct from and/or more severe than clinical features of patients carrying only the co-occurring mutation. Our data suggest a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity suggests that this two-hit model may be more generally applicable to neuropsychiatric disease. PMID:20154674

  19. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

    PubMed Central

    Harel, Tamar; Yesil, Gozde; Bayram, Yavuz; Coban-Akdemir, Zeynep; Charng, Wu-Lin; Karaca, Ender; Al Asmari, Ali; Eldomery, Mohammad K.; Hunter, Jill V.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Pehlivan, Davut; El-Hattab, Ayman W.; Saleh, Mohammed A.; LeDuc, Charles A.; Muzny, Donna; Boerwinkle, Eric; Gibbs, Richard A.; Chung, Wendy K.; Yang, Yaping; Belmont, John W.; Lupski, James R.

    2016-01-01

    The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype. EMC1 encodes a member of the endoplasmic reticulum (ER)-membrane protein complex (EMC), an evolutionarily conserved complex that has been proposed to have multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins. Perturbations of protein folding and organelle crosstalk have been implicated in neurodegenerative processes including cerebellar atrophy. We propose EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum. PMID:26942288

  20. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

    PubMed Central

    Moskowitz, Abby M.; Belnap, Newell; Siniard, Ashley L.; Szelinger, Szabolcs; Claasen, Ana M.; Richholt, Ryan F.; De Both, Matt; Corneveaux, Jason J.; Balak, Chris; Piras, Ignazio S.; Russell, Megan; Courtright, Amanda L.; Rangasamy, Sampath; Ramsey, Keri; Craig, David W.; Narayanan, Vinodh; Huentelman, Matt J.; Schrauwen, Isabelle

    2016-01-01

    Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes. PMID:27626064

  1. A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.

    PubMed

    Tian, Guoling; Cristancho, Ana G; Dubbs, Holly A; Liu, Grant T; Cowan, Nicholas J; Goldberg, Ethan M

    2016-11-01

    Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup. We include studies of mutant function in Escherichia coli and HeLa cells. The patient was found to have a novel de novo mutation in kinesin family member 2A (KIF2A). This mutation results in a substitution of isoleucine at a highly conserved threonine residue within the ATP-binding domain. The KIF2A p.Thr320Ile mutant protein exhibited abnormal solubility, and KIF2A p.Thr320Ile overexpression in cultured cells led to the formation of aberrant microtubule networks. Findings support the pathogenic link between KIF2A mutation and lissencephaly, and expand the range of presentation to include infantile spasms and congenital anomalies.

  2. Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study.

    PubMed

    Krakowiak, Paula; Goodlin-Jones, Beth; Hertz-Picciotto, Irva; Croen, Lisa A; Hansen, Robin L

    2008-06-01

    This study compared parent-reported sleep characteristics in 2- to 5-year-old children with autism spectrum disorders (ASD) to children with other developmental delays (DD) and typical development (TD). We included 529 children (303 ASD [167 males], 63 DD [46 males], and 163 TD [134 males]) enrolled in the CHARGE study, an ongoing population-based case-control study. The mean age of participants was 3.6 years (standard deviation, 0.8 years). ASD diagnosis was confirmed with Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedules (ADOS). Cognitive and adaptive functioning was assessed using Mullen Scales of Early Learning (MSEL) and Vineland Adaptive Behavior Scales (VABS), respectively. Demographic, medical and sleep history information were ascertained from California birth records, telephone interview, medical assessments at clinic visit, and parent-administered questionnaires. Fifty-three percent of children with ASD had at least one frequent sleep problem, followed by 46% of children with DD, and 32% of the TD group (P < 0.0001). Exploratory factor analyses of sleep history data yielded two factors: sleep onset problems and night waking. Children with ASD had marginally higher sleep onset factor scores and significantly higher night waking factor scores compared with the TD group. Factor scores for children with DD were intermediate between the ASD and TD groups. Cognitive or adaptive development did not predict severity of sleep problems in the ASD group.

  3. Predictors of Developmental Outcomes of High-Risk and Developmentally Delayed Infants and Children Enrolled in a State Early Childhood Intervention Program

    ERIC Educational Resources Information Center

    Giannoni, Peggy P.; Kass, Philip H.

    2012-01-01

    A retrospective cohort study was conducted to identify child, maternal, family, and community factors associated with rate of developmental disability among children enrolled in the California Early Start Program. The cohort included 8,987 children considered at high risk for developmental disability due to medical risks and/or developmental…

  4. Quantifying familial influences on brain activation during the monetary incentive delay task: an adolescent monozygotic twin study.

    PubMed

    Silverman, Merav H; Krueger, Robert F; Iacono, William G; Malone, Stephen M; Hunt, Ruskin H; Thomas, Kathleen M

    2014-12-01

    Although altered brain activation during reward tasks has been found in a number of heritable psychiatric disorders and health outcomes, the familial nature of reward-related brain activation remains unexplored. In this study, we investigated the degree to which the magnitude of mesocorticolimbic reward system signal intensities in anticipation of reward during the monetary incentive delay (MID) task was similar within 46 pairs of adolescent, monozygotic twins. Significant within-pair correlations in brain activation during anticipation of gain were found in one third of the 18 reward-related regions investigated. These regions were the right nucleus accumbens, left and right posterior caudate, right anterior caudate, left insula, and anterior cingulate cortex. This serves as evidence for a shared familial contribution to individual differences in reward related brain activity in certain key reward processing regions. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty.

    PubMed

    Chen, C P; Lin, S P; Su, Y N; Chern, S R; Tsai, F J; Wu, P C; Chen, L F; Wang, W

    2011-01-01

    We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 --> q21.21) in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.

  6. Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?

    PubMed

    Teebi, A S; Druker, H A

    2001-01-01

    We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and Smith-Lemli-Opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases.

  7. Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule with Young Children with Developmental Delay: Evaluating Diagnostic Validity

    ERIC Educational Resources Information Center

    Gray, Kylie M.; Tonge, Bruce J.; Sweeney, Deborah J.

    2008-01-01

    Few studies have focused on the validity of the ADI-R and ADOS in the assessment of preschool children with developmental delay. This study aimed to evaluate the diagnostic validity of the ADI-R and the ADOS in young children. Two-hundred and nine children aged 20-55 months participated in the study, 120 of whom received a diagnosis of autism.…

  8. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

    PubMed

    Vanlerberghe, Clémence; Petit, Florence; Malan, Valérie; Vincent-Delorme, Catherine; Bouquillon, Sonia; Boute, Odile; Holder-Espinasse, Muriel; Delobel, Bruno; Duban, Bénédicte; Vallee, Louis; Cuisset, Jean-Marie; Lemaitre, Marie-Pierre; Vantyghem, Marie-Christine; Pigeyre, Marie; Lanco-Dosen, Sandrine; Plessis, Ghislaine; Gerard, Marion; Decamp, Matthieu; Mathieu, Michèle; Morin, Gilles; Jedraszak, Guillaume; Bilan, Frédéric; Gilbert-Dussardier, Brigitte; Fauvert, Delphine; Roume, Joëlle; Cormier-Daire, Valérie; Caumes, Roseline; Puechberty, Jacques; Genevieve, David; Sarda, Pierre; Pinson, Lucie; Blanchet, Patricia; Lemeur, Nathalie; Sheth, Frenny; Manouvrier-Hanu, Sylvie; Andrieux, Joris

    2015-03-01

    Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated with developmental delay and atypical psychological patterns. This region contains four highly-conserved and non-imprinted genes: NIPA1, NIPA2, CYFIP1, TUBGCP5. Our goal was to investigate the phenotypes associated with this microdeletion in a cohort of 52 patients. This copy number variation (CNV) was prevalent in 0.8% patients presenting with developmental delay, psychological pattern issues and/or multiple congenital malformations. This was studied by array-CGH at six different French Genetic laboratories. We collected data from 52 unrelated patients (including 3 foetuses) after excluding patients with an associated genetic alteration (known CNV, aneuploidy or known monogenic disease). Out of 52 patients, mild or moderate developmental delay was observed in 68.3%, 85.4% had speech impairment and 63.4% had psychological issues such as Attention Deficit and Hyperactivity Disorder, Autistic Spectrum Disorder or Obsessive-Compulsive Disorder. Seizures were noted in 18.7% patients and associated congenital heart disease in 17.3%. Parents were analysed for abnormalities in the region in 65.4% families. Amongst these families, 'de novo' microdeletions were observed in 18.8% and 81.2% were inherited from one of the parents. Incomplete penetrance and variable expressivity were observed amongst the patients. Our results support the hypothesis that 15q11.2 (BP1-BP2) microdeletion is associated with developmental delay, abnormal behaviour, generalized epilepsy and congenital heart disease. The later feature has been rarely described. Incomplete penetrance and variability of expression demands further assessment and studies.

  9. Rice interspecies hybrids show precocious or delayed developmental transitions in the endosperm without change to the rate of syncytial nuclear division.

    PubMed

    Ishikawa, Ryo; Ohnishi, Takayuki; Kinoshita, Yuki; Eiguchi, Mitsugu; Kurata, Nori; Kinoshita, Tetsu

    2011-03-01

    In angiosperms, interspecific crosses often display hybrid incompatibilities that are manifested as under-proliferation or over-proliferation of endosperm. Recent analyses using crosses between Arabidopsis thaliana and its related species with different ploidy levels have shown that interspecific hybridization causes delayed developmental transition and increased mitotic activity in the endosperm. In this study, we investigated endosperm development in interspecific crosses between diploid Oryza species. In a cross between female O. sativa and male O. punctata, we found that the hybrid endosperm was reduced in size and this cross was associated with precocious developmental transition. By contrast, the cross between O. sativa and O. longistaminata generated enlarged hybrid endosperm at the mid-point of seed development and this cross was associated with delayed developmental transition. Subsequently, the hybrid endosperm displayed a shriveled appearance at the seed maturation stage. We found that the accumulation of storage products and the expression patterns of several marker genes were also altered in the hybrid endosperm. By contrast, the rate of syncytial mitotic nuclear divisions was not significantly affected. The gene OsMADS87 showed a maternal origin-specific expression pattern in rice endosperm, in contrast to its Arabidopsis homologue PHERES1, which shows paternal origin-specific expression. OsMADS87 expression was decreased or increased depending on the type of developmental transition change in the hybrid rice endosperm. Our results indicate that one of the interspecies hybridization barriers in Oryza endosperm is mediated by precocious or delayed developmental alterations and de-regulation of OsMADS87, without change to the rate of syncytial mitotic nuclear division in the hybrid endosperm.

  10. AB024. Chromosome microarray analysis (CMA) for the diagnosis of children with developmental delay and multiple congenital anomalies in Singapore

    PubMed Central

    Law, Hai-Yang; Brett, Maggie; Tan, Ene-Choo; Yong, Min-Hwee; Lai, Angeline

    2015-01-01

    Chromosome microarray analysis (CMA) is a sensitive method to identify submicroscopic changes too small to be detected by conventional karyotyping. Due to its high-sensitivity in identifying regions with structural variation and hence the genes involved, it is recommended to be the first-tier genetic test for children with intellectual disabilities, development delay or multiple congenital anomalies, and is routinely available in USA and many countries in Europe. Our lab has started offering this as a clinical test based on the research experience on screening >400 children with developmental delay and multiple congenital anomalies since February 2014. To date, 271 patients have been screened using the Agilent 4×180K CGH + SNP array. Copy number variants (CNVs) ranging in size from 10 kb to 154 Mb were found in 109 patients (40%). Pathogenic and likely pathogenic CNVs were found in 55 (20%). These included 45 with deletions, 8 with duplications and 2 patients with both deletion and duplication. Recurrent microdeletion and microduplication syndromes including the Angelman/Prader-Willi syndrome [5], 1p36 microdeletion [3], Williams syndrome [2], 22q11.2 distal deletion syndrome [2], 16p13.3 microdeletion syndrome [2], Cat Eye syndrome, Cri du Chat syndrome, Miller Decker syndrome, 3q29 microdeletion, 15q24 microdeletion, and 1q43q44 syndrome were among the variants detected in our patients. CNVs of uncertain clinical significance were detected in 54 (20%) individuals: 32 were duplications, 18 were deletions and one with both deletion and duplication. However, due to the high cost of the test, parental testing was not performed and hence, significance of these variants could not be established conclusively. In conclusion, CMA is a powerful tool in identifying pathogenic chromosomal copy number alternations. However, due to the high cost of the test, parental testing for the cases where variants of uncertain significant are found is often not possible. CMA is useful

  11. The Fault in Their Stars-Accumulating Astrocytic Inclusions Associated With Clusters of Epileptic Spasms in Children With Global Developmental Delay.

    PubMed

    Whitney, Robyn; AlMehmadi, Sameer; McCoy, Bláthnaid; Yau, Ivanna; Ochi, Ayako; Otsubo, Hiroshi; Weiss, Shelly K; Rutka, James; Hazrati, Lili-Naz; Snead, O Carter; Go, Cristina

    2017-08-01

    The presence of cerebral astrocytic inclusions recently has been described in a subset of children with early-onset refractory epilepsy, with or without structural brain malformations, and varying degrees of developmental delay. We describe two new individuals with epilepsy with astrocytic inclusions and suggest that in some children this disorder may represent a unique hemispheric epilepsy. We review previously reported individuals with epilepsy with astrocytic inclusions. Two children with early onset epilepsy with astrocytic inclusions had refractory clusters of epileptic spasms, developmental delay, abnormal neuroimaging, and hemispheric or diffuse interictal epileptiform discharges. In both children, the initial focal resection of the putative epileptogenic zone was unsuccessful and pathology failed to show astrocytic inclusions. Subsequently, both children underwent functional hemispherectomy due to ongoing clusters of epileptic spasms, and the presence of multilobar astrocytic inclusions was demonstrated. Postoperatively, both children have remained seizure free in the short-term with improved development. We highlight that functional hemispherectomy may be required for seizure control in a select subset of children with clusters of epileptic spasms, astrocytic inclusions, and global developmental delay. Given the small number of documented patients, however, ongoing collaboration is needed to better understand the pathophysiology of this condition and determine the optimal way to diagnose and manage these children. Crown Copyright © 2017. Published by Elsevier Inc. All rights reserved.

  12. Early neurotrophic pharmacotherapy rescues developmental delay and Alzheimer's-like memory deficits in the Ts65Dn mouse model of Down syndrome.

    PubMed

    Kazim, Syed Faraz; Blanchard, Julie; Bianchi, Riccardo; Iqbal, Khalid

    2017-04-03

    Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of intellectual disability and is associated with a greatly increased risk of early-onset Alzheimer's disease (AD). The Ts65Dn mouse model of DS exhibits several key features of the disease including developmental delay and AD-like cognitive impairment. Accumulating evidence suggests that impairments in early brain development caused by trisomy 21 contribute significantly to memory deficits in adult life in DS. Prenatal genetic testing to diagnose DS in utero, provides the novel opportunity to initiate early pharmacological treatment to target this critical period of brain development. Here, we report that prenatal to early postnatal treatment with a ciliary neurotrophic factor (CNTF) small-molecule peptide mimetic, Peptide 021 (P021), rescued developmental delay in pups and AD-like hippocampus-dependent memory impairments in adult life in Ts65Dn mice. Furthermore, this treatment prevented pre-synaptic protein deficit, decreased glycogen synthase kinase-3beta (GSK3β) activity, and increased levels of synaptic plasticity markers including brain derived neurotrophic factor (BNDF) and phosphorylated CREB, both in young (3-week-old) and adult (~ 7-month-old) Ts65Dn mice. These findings provide novel evidence that providing neurotrophic support during early brain development can prevent developmental delay and AD-like memory impairments in a DS mouse model.

  13. Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves' thyrotoxicosis: a case report.

    PubMed

    Yatsuga, Shuichi; Saikusa, Tomoko; Sasaki, Takako; Ushijima, Kikumi; Kitamura, Miyuki; Nishioka, Junko; Koga, Yasutoshi

    2016-08-10

    Thyroid dysfunction can induce developmental delay and failure to thrive in infancy. Congenital hypothyroidism is one of the common causes of these symptoms in infancy. By contrast, hyperthyroidism is a rare cause of these symptoms in infancy. A 7-month-old Japanese baby boy was examined for developmental delay and failure to thrive. Blood tests were performed, which showed low levels of thyroid-stimulating hormone (<0.01 μU/mL) and high levels of free thyroxine (2.14 pg/mL). He was referred to our hospital at 8 months of age. His height was 64 cm (-2.7 standard deviation) and his weight was 6085 g (-2.5 standard deviation). No goiter was detected on examination. His thyrotropin receptor antibody was slightly high (3.9 IU/L), whereas thyroid stimulating antibody, anti-thyroglobulin antibody, and thyroid peroxidase antibody were within normal range. These blood findings indicated hyperthyroidism, most likely Graves' disease. His free thyroxine level decreased in the first month after our examination. No increased vascularity of his thyroid gland was noted. The technetium uptake of his thyroid gland in scintigraphy was relatively increased compared to the intake of his salivary gland. We elected to observe rather than treat with anti-thyroid medications. We have to rule out spontaneous transient Graves' thyrotoxicosis when babies have symptoms of developmental delay and fail to thrive.

  14. Early neurotrophic pharmacotherapy rescues developmental delay and Alzheimer’s-like memory deficits in the Ts65Dn mouse model of Down syndrome

    PubMed Central

    Kazim, Syed Faraz; Blanchard, Julie; Bianchi, Riccardo; Iqbal, Khalid

    2017-01-01

    Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of intellectual disability and is associated with a greatly increased risk of early-onset Alzheimer’s disease (AD). The Ts65Dn mouse model of DS exhibits several key features of the disease including developmental delay and AD-like cognitive impairment. Accumulating evidence suggests that impairments in early brain development caused by trisomy 21 contribute significantly to memory deficits in adult life in DS. Prenatal genetic testing to diagnose DS in utero, provides the novel opportunity to initiate early pharmacological treatment to target this critical period of brain development. Here, we report that prenatal to early postnatal treatment with a ciliary neurotrophic factor (CNTF) small-molecule peptide mimetic, Peptide 021 (P021), rescued developmental delay in pups and AD-like hippocampus-dependent memory impairments in adult life in Ts65Dn mice. Furthermore, this treatment prevented pre-synaptic protein deficit, decreased glycogen synthase kinase-3beta (GSK3β) activity, and increased levels of synaptic plasticity markers including brain derived neurotrophic factor (BNDF) and phosphorylated CREB, both in young (3-week-old) and adult (~ 7-month-old) Ts65Dn mice. These findings provide novel evidence that providing neurotrophic support during early brain development can prevent developmental delay and AD-like memory impairments in a DS mouse model. PMID:28368015

  15. A Comparison of Receptive-Expressive Language Profiles between Toddlers with Autism Spectrum Disorder and Developmental Language Delay

    PubMed Central

    Seol, Kyeong In; Song, Seung Ha; Kim, Ka Lim; Oh, Seung Taek; Kim, Young Tae; Im, Woo Young; Song, Dong Ho

    2014-01-01

    Purpose It is well known that expressive language impairment is commonly less severe than receptive language impairment in children with autism spectrum disorder (ASD). However, this result is based on experiments in Western countries with Western language scales. This study tries to find whether the result above is applicable for toddlers in a non-Western country; more specifically, in Korea with non-Western language scales. Materials and Methods The participants were 166 toddlers aged between 20 months and 50 months who visited the clinic from December 2010 to January 2013. The number of toddlers diagnosed as ASD and developmental language delay (DLD) was 103 and 63, respectively. Language development level was assessed using Sequenced Language Scale for Infants (SELSI), a Korean language scale. Using SELSI, each group was divided into 3 sub-groups. Moreover, the group difference by age was observed by dividing them into three age groups. Chi-square test and linear-by-linear association was used for analysis. Results Receptive language ability of the DLD group was superior to that of the ASD group in all age groups. However, expressive language ability in both groups showed no difference in all age groups. A greater proportion of expressive dominant type was found in ASD. The 20-29 months group in ASD showed the largest proportion of expressive language dominant type in the three age groups, suggesting that the younger the ASD toddler is, the more severe the receptive language impairment is. Conclusion These findings suggest that receptive-expressive language characteristics in ASD at earlier age could be useful in the early detection of ASD. PMID:25323912

  16. Functional significance of parasitism-induced suppression of juvenile hormone esterase activity in developmentally delayed Choristoneura fumiferana larvae.

    PubMed

    Cusson, M; Laforge, M; Miller, D; Cloutier, C; Stoltz, D

    2000-03-01

    The parasitic wasp Tranosema rostrale transmits a polydnavirus (PDV) to its host, Choristoneura fumiferana, during oviposition. Last-instar C. fumiferana larvae parasitized by T. rostrale early in the stadium fail to undergo metamorphosis, and injection of the wasp's calyx fluid (CxF; contains PDV) into healthy caterpillars induces a dose-dependent delay in initiation of metamorphosis (D. Doucet and M. Cusson, 1996, Entomol. Exp. Appl. 81, 21-30). In the present work, parasitization and injection of CxF (0.5 female equivalent) on the first day of the last stadium both prevented the rise in hemolymph 20-hydroxyecdysone (20HE) titer observed between day 4 and day 7 in control and saline-injected larvae. Similarly, juvenile hormone esterase (JHE) activity was depressed following parasitization or CxF injection, whereas control larvae displayed a peak on day 4. However, neither parasitism nor injection of CxF on day 1 prevented the JH-producing glands from turning off during the first half of the last stadium. Likewise, low but clearly detectable JH titers were observed in the first hours following the molt but very low titers, at or near the detection limit of our radioimmunoassay, were seen in both control and parasitized larvae on day 4. Prothoracic glands showed no apparent sign of degeneration 4 days after injection of CxF but had significantly smaller cells than saline-injected larvae 7 days postinjection. It is not clear whether this was a direct effect of T. rostrale PDV. Thus, disruption of spruce budworm metamorphosis by T. rostrale CxF involves depression of 20HE titers but is not associated with a measurable increase in the level of JH, as shown for some other host-parasitoid systems. In view of the latter observation, we put forward three hypotheses regarding the functional significance of the observed suppression of JHE activity in developmentally arrested C. fumiferana larvae.

  17. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

    PubMed

    Cao, Siqi; Smith, Laura L; Padilla-Lopez, Sergio R; Guida, Brandon S; Blume, Elizabeth; Shi, Jiahai; Morton, Sarah U; Brownstein, Catherine A; Beggs, Alan H; Kruer, Michael C; Agrawal, Pankaj B

    2017-09-15

    Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development and function is unclear. There have been several reports linking de novo dominant EEF1A2 mutations to neurological issues in humans. We report a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhibited global developmental delay, failure to thrive, dilated cardiomyopathy and epilepsy, ultimately leading to death in early childhood. A third sibling also died of a similar presentation, but DNA was unavailable to confirm the mutation. Functional genomic analysis was performed in S. cerevisiae and zebrafish. In S. cerevisiae, there was no evidence for a dominant-negative effect. Previously identified putative de novo mutations failed to complement yeast strains lacking the EEF1A ortholog showing a major growth defect. In contrast, the introduction of the mutation seen in our family led to a milder growth defect. To evaluate its function in zebrafish, we knocked down eef1a2 expression using translation blocking and splice-site interfering morpholinos. EEF1A2-deficient zebrafish had skeletal muscle weakness, cardiac failure and small heads. Human EEF1A2 wild-type mRNA successfully rescued the morphant phenotype, but mutant RNA did not. Overall, EEF1A2 appears to be critical for normal heart function in humans, and its deficiency results in clinical abnormalities in neurologic function as well as in skeletal and cardiac muscle defects. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

    PubMed Central

    Williams, Stephen R.; Aldred, Micheala A.; Der Kaloustian, Vazken M.; Halal, Fahed; Gowans, Gordon; McLeod, D. Ross; Zondag, Sara; Toriello, Helga V.; Magenis, R. Ellen; Elsea, Sarah H.

    2010-01-01

    Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance, craniofacial and skeletal abnormalities (including brachydactyly type E), and autism spectrum disorder. To date, only large deletions of 2q37 have been reported, making delineation of a critical region and subsequent identification of candidate genes difficult. We present clinical and molecular analysis of six individuals with overlapping deletions involving 2q37.3 that refine the critical region, reducing the candidate genes from >20 to a single gene, histone deacetylase 4 (HDAC4). Driven by the distinct hand and foot anomalies and similar cognitive features, we identified other cases with clinical findings consistent with BDMR but without a 2q37 deletion, and sequencing of HDAC4 identified de novo mutations, including one intragenic deletion probably disrupting normal splicing and one intragenic insertion that results in a frameshift and premature stop codon. HDAC4 is a histone deacetylase that regulates genes important in bone, muscle, neurological, and cardiac development. Reportedly, Hdac4−/− mice have severe bone malformations resulting from premature ossification of developing bones. Data presented here show that deletion or mutation of HDAC4 results in reduced expression of RAI1, which causes Smith-Magenis syndrome when haploinsufficient, providing a link to the overlapping findings in these disorders. Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome. PMID:20691407

  19. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

    PubMed

    Williams, Stephen R; Aldred, Micheala A; Der Kaloustian, Vazken M; Halal, Fahed; Gowans, Gordon; McLeod, D Ross; Zondag, Sara; Toriello, Helga V; Magenis, R Ellen; Elsea, Sarah H

    2010-08-13

    Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance, craniofacial and skeletal abnormalities (including brachydactyly type E), and autism spectrum disorder. To date, only large deletions of 2q37 have been reported, making delineation of a critical region and subsequent identification of candidate genes difficult. We present clinical and molecular analysis of six individuals with overlapping deletions involving 2q37.3 that refine the critical region, reducing the candidate genes from >20 to a single gene, histone deacetylase 4 (HDAC4). Driven by the distinct hand and foot anomalies and similar cognitive features, we identified other cases with clinical findings consistent with BDMR but without a 2q37 deletion, and sequencing of HDAC4 identified de novo mutations, including one intragenic deletion probably disrupting normal splicing and one intragenic insertion that results in a frameshift and premature stop codon. HDAC4 is a histone deacetylase that regulates genes important in bone, muscle, neurological, and cardiac development. Reportedly, Hdac4(-/-) mice have severe bone malformations resulting from premature ossification of developing bones. Data presented here show that deletion or mutation of HDAC4 results in reduced expression of RAI1, which causes Smith-Magenis syndrome when haploinsufficient, providing a link to the overlapping findings in these disorders. Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome.

  20. Quantifying immediate and delayed effects of anthelmintic exposure on ecosystem functioning supported by a common dung beetle species

    PubMed Central

    Beynon, Sarah A.; Lewis, Owen T.

    2017-01-01

    Dung beetles (Coleoptera: Scarabaeoidea) support numerous ecosystem functions in livestock-grazed pastures. Exposure to veterinary anthelmintic residues in livestock dung can have lethal and sublethal effects on dung beetles, and can reduce rates of dung removal, but the immediate and longer-term consequences for other dung beetle mediated functions have rarely been studied. We investigated the consequences of anthelmintic exposure on survival of the dung beetle Aphodius fossor and its delivery of four ecosystems functions that underpin pasture production: dung removal, soil fauna feeding activity, primary productivity, and reduction of soil compaction. We tested whether anthelmintic exposure had immediate or delayed effects on these functions individually and simultaneously (i.e., ecosystem multifunctionality). We found no evidence that ivermectin residues had a lethal effect on adult beetles. For dung removal, we found a significant interaction between the timing of exposure and functioning: while dung removal was impaired by concurrent exposure to high levels of ivermectin, functioning was unaffected when beetles that had been exposed previously to the same concentration of anthelmintic later interacted with untreated dung. Other ecosystem functions were not affected significantly by anthelmintic exposure, and there was no evidence to suggest any persistent impact of anthelmintic exposure on ecosystem multifunctionality. While anthelmintic residues remain a significant threat to dung beetle populations, for adult beetles, we found no evidence that residues have detrimental consequences for ecosystem functioning beyond the immediate point of exposure. PMID:28800623

  1. Quantifying immediate and delayed effects of anthelmintic exposure on ecosystem functioning supported by a common dung beetle species.

    PubMed

    Manning, Paul; Beynon, Sarah A; Lewis, Owen T

    2017-01-01

    Dung beetles (Coleoptera: Scarabaeoidea) support numerous ecosystem functions in livestock-grazed pastures. Exposure to veterinary anthelmintic residues in livestock dung can have lethal and sublethal effects on dung beetles, and can reduce rates of dung removal, but the immediate and longer-term consequences for other dung beetle mediated functions have rarely been studied. We investigated the consequences of anthelmintic exposure on survival of the dung beetle Aphodius fossor and its delivery of four ecosystems functions that underpin pasture production: dung removal, soil fauna feeding activity, primary productivity, and reduction of soil compaction. We tested whether anthelmintic exposure had immediate or delayed effects on these functions individually and simultaneously (i.e., ecosystem multifunctionality). We found no evidence that ivermectin residues had a lethal effect on adult beetles. For dung removal, we found a significant interaction between the timing of exposure and functioning: while dung removal was impaired by concurrent exposure to high levels of ivermectin, functioning was unaffected when beetles that had been exposed previously to the same concentration of anthelmintic later interacted with untreated dung. Other ecosystem functions were not affected significantly by anthelmintic exposure, and there was no evidence to suggest any persistent impact of anthelmintic exposure on ecosystem multifunctionality. While anthelmintic residues remain a significant threat to dung beetle populations, for adult beetles, we found no evidence that residues have detrimental consequences for ecosystem functioning beyond the immediate point of exposure.

  2. Quantifying full phenological event distributions reveals simultaneous advances, temporal stability and delays in spring and autumn migration timing in long-distance migratory birds.

    PubMed

    Miles, Will T S; Bolton, Mark; Davis, Peter; Dennis, Roy; Broad, Roger; Robertson, Iain; Riddiford, Nick J; Harvey, Paul V; Riddington, Roger; Shaw, Deryk N; Parnaby, David; Reid, Jane M

    2017-04-01

    Phenological changes in key seasonally expressed life-history traits occurring across periods of climatic and environmental change can cause temporal mismatches between interacting species, and thereby impact population and community dynamics. However, studies quantifying long-term phenological changes have commonly only measured variation occurring in spring, measured as the first or mean dates on which focal traits or events were observed. Few studies have considered seasonally paired events spanning spring and autumn or tested the key assumption that single convenient metrics accurately capture entire event distributions. We used 60 years (1955-2014) of daily bird migration census data from Fair Isle, Scotland, to comprehensively quantify the degree to which the full distributions of spring and autumn migration timing of 13 species of long-distance migratory bird changed across a period of substantial climatic and environmental change. In most species, mean spring and autumn migration dates changed little. However, the early migration phase (≤10th percentile date) commonly got earlier, while the late migration phase (≥90th percentile date) commonly got later. Consequently, species' total migration durations typically lengthened across years. Spring and autumn migration phenologies were not consistently correlated within or between years within species and hence were not tightly coupled. Furthermore, different metrics quantifying different aspects of migration phenology within seasons were not strongly cross-correlated, meaning that no single metric adequately described the full pattern of phenological change. These analyses therefore reveal complex patterns of simultaneous advancement, temporal stability and delay in spring and autumn migration phenologies, altering species' life-history structures. Additionally, they demonstrate that this complexity is only revealed if multiple metrics encompassing entire seasonal event distributions, rather than single

  3. Viability of developmental stages of Schistosoma mansoni quantified with xCELLigence worm real-time motility assay (xWORM).

    PubMed

    Rinaldi, Gabriel; Loukas, Alex; Brindley, Paul J; Irelan, Jeff T; Smout, Michael J

    2015-12-01

    Infection with helminth parasites causes morbidity and mortality in billions of people and livestock worldwide. Where anthelmintic drugs are available, drug resistance is a major problem in livestock parasites, and a looming threat to public health. Monitoring the efficacy of these medicines and screening for new drugs has been hindered by the lack of objective, high-throughput approaches. Several cell monitoring technologies have been adapted for parasitic worms, including video-, fluorescence-, metabolism enzyme- and impedance-based tools that minimize the screening bottleneck. Using the xCELLigence impedance-based system we previously developed a motility-viability assay that is applicable for a range of helminth parasites. Here we have improved substantially the assay by using diverse frequency settings, and have named it the xCELLigence worm real-time motility assay (xWORM). By utilizing strictly standardized mean difference analysis we compared the xWORM output measured with 10, 25 and 50 kHz frequencies to quantify the motility of schistosome adults (human blood flukes) and hatching of schistosome eggs. Furthermore, we have described a novel application of xWORM to monitor movement of schistosome cercariae, the developmental stage that is infectious to humans. For all three stages, 25 kHz was either optimal or near-optimal for monitoring and quantifying schistosome motility. These improvements in methodology sensitivity should enhance the capacity to screen small compound libraries for new drugs both for schistosomes and other helminth pathogens at large.

  4. Developmental Immunotoxicity

    EPA Science Inventory

    Animal models suggest that the immature immune system is more susceptible to xenobiotics than the fully mature system, and sequelae of developmental immunotoxicant exposure may be persistent well into adulthood. Immune maturation may be delayed by xenobiotic exposure and recover...

  5. Developmental Immunotoxicity

    EPA Science Inventory

    Animal models suggest that the immature immune system is more susceptible to xenobiotics than the fully mature system, and sequelae of developmental immunotoxicant exposure may be persistent well into adulthood. Immune maturation may be delayed by xenobiotic exposure and recover...

  6. Developmental delay in a Streptomyces venezuelae glgE null mutant is associated with the accumulation of α-maltose 1-phosphate

    PubMed Central

    Miah, Farzana; Bibb, Maureen J.; Barclay, J. Elaine; Findlay, Kim C.

    2016-01-01

    The GlgE pathway is thought to be responsible for the conversion of trehalose into a glycogen-like α-glucan polymer in bacteria. Trehalose is first converted to maltose, which is phosphorylated by maltose kinase Pep2 to give α-maltose 1-phosphate. This is the donor substrate of the maltosyl transferase GlgE that is known to extend α-1,4-linked maltooligosaccharides, which are thought to be branched with α-1,6 linkages. The genome of Streptomyces venezuelae contains all the genes coding for the GlgE pathway enzymes but none of those of related pathways, including glgC and glgA of the glycogen pathway. This provides an opportunity to study the GlgE pathway in isolation. The genes of the GlgE pathway were upregulated at the onset of sporulation, consistent with the known timing of α-glucan deposition. A constructed ΔglgE null mutant strain was viable but showed a delayed developmental phenotype when grown on maltose, giving less cell mass and delayed sporulation. Pre-spore cells and spores of the mutant were frequently double the length of those of the wild-type, implying impaired cross-wall formation, and spores showed reduced tolerance to stress. The mutant accumulated α-maltose 1-phosphate and maltose but no α-glucan. Therefore, the GlgE pathway is necessary and sufficient for polymer biosynthesis. Growth of the ΔglgE mutant on galactose and that of a Δpep2 mutant on maltose were analysed. In both cases, neither accumulation of α-maltose 1-phosphate/α-glucan nor a developmental delay was observed. Thus, high levels of α-maltose 1-phosphate are responsible for the developmental phenotype of the ΔglgE mutant, rather than the lack of α-glucan. PMID:27121970

  7. Developmental delay in a Streptomyces venezuelae glgE null mutant is associated with the accumulation of α-maltose 1-phosphate.

    PubMed

    Miah, Farzana; Bibb, Maureen J; Barclay, J Elaine; Findlay, Kim C; Bornemann, Stephen

    2016-07-01

    The GlgE pathway is thought to be responsible for the conversion of trehalose into a glycogen-like α-glucan polymer in bacteria. Trehalose is first converted to maltose, which is phosphorylated by maltose kinase Pep2 to give α-maltose 1-phosphate. This is the donor substrate of the maltosyl transferase GlgE that is known to extend α-1,4-linked maltooligosaccharides, which are thought to be branched with α-1,6 linkages. The genome of Streptomyces venezuelae contains all the genes coding for the GlgE pathway enzymes but none of those of related pathways, including glgC and glgA of the glycogen pathway. This provides an opportunity to study the GlgE pathway in isolation. The genes of the GlgE pathway were upregulated at the onset of sporulation, consistent with the known timing of α-glucan deposition. A constructed ΔglgE null mutant strain was viable but showed a delayed developmental phenotype when grown on maltose, giving less cell mass and delayed sporulation. Pre-spore cells and spores of the mutant were frequently double the length of those of the wild-type, implying impaired cross-wall formation, and spores showed reduced tolerance to stress. The mutant accumulated α-maltose 1-phosphate and maltose but no α-glucan. Therefore, the GlgE pathway is necessary and sufficient for polymer biosynthesis. Growth of the ΔglgE mutant on galactose and that of a Δpep2 mutant on maltose were analysed. In both cases, neither accumulation of α-maltose 1-phosphate/α-glucan nor a developmental delay was observed. Thus, high levels of α-maltose 1-phosphate are responsible for the developmental phenotype of the ΔglgE mutant, rather than the lack of α-glucan.

  8. Prenatal mercury exposure, autism, and developmental delay, using pharmacokinetic combination of newborn blood concentrations and questionnaire data: a case control study.

    PubMed

    McKean, Stephen J; Bartell, Scott M; Hansen, Robin L; Barfod, Gry H; Green, Peter G; Hertz-Picciotto, Irva

    2015-07-22

    Methylmercury (MeHg), known for well over a century as a neurotoxin in adults, has more recently been studied for potential detrimental effects during early brain development. While several studies have estimated mercury exposure, they usually rely on either a single biomarker or questionnaire data, each of which has limitations. The goal of this paper was to develop a toxicokinetic model that incorporates both biomarker and questionnaire data to estimate the cumulative exposure to MeHg through seafood consumption using data collected from the Childhood Autism Risks from Genetics and the Environment (CHARGE) study. We utilized a previously described discrete-time model that estimates blood MeHg concentration given a piecewise-constant ingestion rate and single-compartment pharmacokinetics. We measured newborn bloodspot Hg concentrations and obtained information pertaining to maternal fish consumption using a questionnaire. Using MeHg concentration estimates from the toxicokinetic model, cumulative MeHg exposure was estimated in children with autism, children with developmental delay, and typically developing children. Median estimated cumulative MeHg was compared among diagnostic groups using the Kruskal-Wallis Test. Multinomial logistic regression models were constructed to assess the association between cumulative MeHg concentration and the risk of autism and developmental delay (vs. typical development). The estimated average MeHg concentration of for all fish species consumed by mothers was 42 ppb. Median cumulative MeHg over gestation was similar across diagnostic groups (p-values raged from 0.91 to 0.98). After adjusting for potential confounding, we found no association between cumulative MeHg exposure and the risk of autism (OR = 0.95, 95% CI: 0.95, 1.12) or developmental delay (OR = 1.00, 95% CI: 0.89, 1.13). The toxicokinetic model described in this paper yielded fish MeHg concentration estimates that are consistent with fish species containing

  9. Programming generalization of in-class transition skills: teaching preschoolers with developmental delays to self-assess and recruit contingent teacher praise.

    PubMed

    Connell, M C; Carta, J J; Baer, D M

    1993-01-01

    We investigated a self-management intervention package that taught preschoolers with developmental delays to self-assess performance of targeted skills and to recruit teacher praise. Self-assessment alone resulted in increases in active engagement across all participants during the training sessions, but generalization to classrooms was sporadic and short-lived. When recruitment of contingent praise was added to the training package, treatment effects generalized to the participants' classrooms and teachers' rates of contingent praise increased. The implications of combining self-assessment and recruitment of contingent teacher praise are discussed.

  10. De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

    PubMed Central

    Carter, Jennifer; Zombor, Melinda; Máté, Adrienn; Sztriha, László; Waters, Jonathan J.

    2016-01-01

    A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development. This is consistent with previously reported duplications of this region in patients with a similar phenotype. PMID:26955491

  11. MOTHERS AND FATHERS TOGETHER: CONTRASTS IN PARENTING ACROSS PRESCHOOL TO EARLY SCHOOL AGE IN CHILDREN WITH DEVELOPMENTAL DELAYS

    PubMed Central

    Crnic, Keith; Arbona, Anita Pedersen y; Baker, Bruce; Blacher, Jan

    2009-01-01

    Much of our understanding of families and parenting of children with intellectual disabilities (ID) reflects the thoughts, beliefs, attitudes, and behaviors of mothers with relatively little focus on the ways in which fathers contribute to and are affected by this unique context. In this chapter, we address the importance of fathers as a source of critical developmental influence, and contrast fathers and mothers of children with ID along three important dimensions of parent functioning (stress, well-being, and interactive behavior). The contrasts explore the developmental trajectories of these parenting constructs over time from the perspective of an emerging new complexity in conceptual models of family and parent adaptation. Data from the Collaborative Family Study are used to explore paternal and maternal stress, well-being, and behavior across the preschool through transition to school-age developmental period, and findings are discussed within the context of the broader literature in each area. PMID:20224748

  12. Speech and Language Delay

    MedlinePlus

    ... adults)Being a twinAutism (a developmental disorder)Elective mutism (the child just doesn’t want to talk) ... palsy, developmental disability, Early Language Milestone Scale, elective mutism, expressive language disorder, hearing loss, language delay, psychosocial ...

  13. Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.

    PubMed

    Hemmat, Morteza; Yang, Xiaojing; Chan, Patricia; McGough, Robert A; Ross, Leslie; Mahon, Loretta W; Anguiano, Arturo L; Boris, Wang T; Elnaggar, Mohamed M; Wang, Jia-Chi J; Strom, Charles M; Boyar, Fatih Z

    2014-01-01

    Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient's developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient.

  14. Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

    PubMed Central

    2014-01-01

    Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient’s developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient. PMID:25478007

  15. A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism

    PubMed Central

    Choi, Young-Jin; Shin, Eunsim; Jo, Tae Sik; Lee, Se-Min; Kim, Joo-Hwa; Oh, Jae-Won; Kim, Chang-Ryul; Seol, In Joon

    2016-01-01

    We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1–q44 (copy gain) and 18q21.33–18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18)(q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities. PMID:26958068

  16. CO2 induced seawater acidification impacts sea urchin larval development I: elevated metabolic rates decrease scope for growth and induce developmental delay.

    PubMed

    Stumpp, M; Wren, J; Melzner, F; Thorndyke, M C; Dupont, S T

    2011-11-01

    Anthropogenic CO(2) emissions are acidifying the world's oceans. A growing body of evidence is showing that ocean acidification impacts growth and developmental rates of marine invertebrates. Here we test the impact of elevated seawater pCO(2) (129 Pa, 1271 μatm) on early development, larval metabolic and feeding rates in a marine model organism, the sea urchin Strongylocentrotus purpuratus. Growth and development was assessed by measuring total body length, body rod length, postoral rod length and posterolateral rod length. Comparing these parameters between treatments suggests that larvae suffer from a developmental delay (by ca. 8%) rather than from the previously postulated reductions in size at comparable developmental stages. Further, we found maximum increases in respiration rates of +100% under elevated pCO(2), while body length corrected feeding rates did not differ between larvae from both treatments. Calculating scope for growth illustrates that larvae raised under high pCO(2) spent an average of 39 to 45% of the available energy for somatic growth, while control larvae could allocate between 78 and 80% of the available energy into growth processes. Our results highlight the importance of defining a standard frame of reference when comparing a given parameter between treatments, as observed differences can be easily due to comparison of different larval ages with their specific set of biological characters.

  17. Cognitive-Behavioral Treatment for Specific Phobias with a Child Demonstrating Severe Problem Behavior and Developmental Delays

    ERIC Educational Resources Information Center

    Davis, Thompson E., III; Kurtz, Patricia F.; Gardner, Andrew W.; Carman, Nicole B.

    2007-01-01

    Cognitive-behavioral treatments (CBTs) are widely used for anxiety disorders in typically developing children; however, there has been no previous attempt to administer CBT for specific phobia (in this case study, one-session treatment) to developmentally or intellectually disabled children. This case study integrates both cognitive-behavioral and…

  18. Impairments in Monkey and Human Face Recognition in 2-Year-Old Toddlers with Autism Spectrum Disorder and Developmental Delay

    ERIC Educational Resources Information Center

    Chawarska, Katarzyna; Volkmar, Fred

    2007-01-01

    Face recognition impairments are well documented in older children with Autism Spectrum Disorders (ASD); however, the developmental course of the deficit is not clear. This study investigates the progressive specialization of face recognition skills in children with and without ASD. Experiment 1 examines human and monkey face recognition in…

  19. Cognitive-Behavioral Treatment for Specific Phobias with a Child Demonstrating Severe Problem Behavior and Developmental Delays

    ERIC Educational Resources Information Center

    Davis, Thompson E., III; Kurtz, Patricia F.; Gardner, Andrew W.; Carman, Nicole B.

    2007-01-01

    Cognitive-behavioral treatments (CBTs) are widely used for anxiety disorders in typically developing children; however, there has been no previous attempt to administer CBT for specific phobia (in this case study, one-session treatment) to developmentally or intellectually disabled children. This case study integrates both cognitive-behavioral and…

  20. Impairments in Monkey and Human Face Recognition in 2-Year-Old Toddlers with Autism Spectrum Disorder and Developmental Delay

    ERIC Educational Resources Information Center

    Chawarska, Katarzyna; Volkmar, Fred

    2007-01-01

    Face recognition impairments are well documented in older children with Autism Spectrum Disorders (ASD); however, the developmental course of the deficit is not clear. This study investigates the progressive specialization of face recognition skills in children with and without ASD. Experiment 1 examines human and monkey face recognition in…

  1. Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression

    PubMed Central

    Kim, Hyoung-Mi; Billings, Sara; Nakaya, Kazuhiro; Li, Xiangming; Singh, Ruchira; Sharlin, David S.; Forrest, Douglas; Marcus, Daniel C.; Fong, Peying

    2009-01-01

    Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger located in the cochlea, thyroid, and kidney. The goal of the present study was to determine whether developmental delays, possibly mediated by systemic or local hypothyroidism, contribute to the failure to develop hearing in mice lacking Slc26a4 (Slc26a4−/−). We evaluated thyroid function by voltage and pH measurements, by array-assisted gene expression analysis, and by determination of plasma thyroxine levels. Cochlear development was evaluated for signs of hypothyroidism by microscopy, in situ hybridization, and quantitative RT-PCR. No differences in plasma thyroxine levels were found in Slc26a4−/− and sex-matched Slc26a4+/− littermates between postnatal day 5 (P5) and P90. In adult Slc26a4−/− mice, the transepithelial potential and the pH of thyroid follicles were reduced. No differences in the expression of genes that participate in thyroid hormone synthesis or ion transport were observed at P15, when plasma thyroxine levels peaked. Scala media of the cochlea was 10-fold enlarged, bulging into and thereby displacing fibrocytes, which express Dio2 to generate a cochlear thyroid hormone peak at P7. Cochlear development, including tunnel opening, arrival of efferent innervation at outer hair cells, endochondral and intramembraneous ossification, and developmental changes in the expression of Dio2, Dio3, and Tectb were delayed by 1–4 days. These data suggest that pendrin functions as a HCO3− transporter in the thyroid, that Slc26a4−/− mice are systemically euthyroid, and that delays in cochlear development, possibly due to local hypothyroidism, lead to the failure to develop hearing. PMID:19692489

  2. A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.

    PubMed

    Imitola, Jaime; Khurana, Divya S; Teplyuk, Nadiya M; Zucker, Mark; Jethva, Reena; Legido, Agustin; Krichevsky, Ana M; Frangieh, Michael; Walsh, Christopher A; Carvalho, Karen S

    2015-11-01

    2q37 microdeletion syndrome is a rare syndrome characterized by neurodevelopmental delay, bone, cardiovascular, and neurological alterations. This syndrome is typically associated with loss of genetic material of approximately 100 genes in the 2q37 band. However, the genes associated with neurodevelopmental phenotype in this syndrome are still unknown. We identified a deleted region of 496 kb by whole genome array CGH in a patient who fulfilled criteria for 2q37 microdeletion syndrome with developmental delay, microcephaly, hypoplasia of the corpus callosum, hand wringing, toe walking, and seizures. The deleted segment contains genes that are highly expressed in the developing human cortical plate and the subventricular zone (SVZ) in vivo and human neural progenitors in vitro, including SEPT2, THAP4, ATG4B, PPP1R7, and STK25. Network analysis revealed that STK25 was the most interacting gene associated with neural development in this deletion. Our report narrows the likely causative genomic region for microcephaly and neurodevelopmental delay in 2q37 microdeletion syndrome to a small genomic region enriched with neural progenitor genes that may represent an important locus for the development of the human cortex and corpus callosum. © 2015 Wiley Periodicals, Inc.

  3. Confirmatory Factor Analysis of a Family Quality of Life Scale for Taiwanese Families of Children With Intellectual Disability/Developmental Delay.

    PubMed

    Chiu, Chun-Yu; Seo, Hyojeong; Turnbull, Ann P; Summers, Jean Ann

    2017-04-01

    The Beach Center Family Quality of Life Scale is an internationally validated instrument for measuring family outcomes. To revise the scale for better alignment with the Family Quality of Life theory, the authors excluded non-outcome items in this revision. In this study, we examined reliability and validity of the revised scale (i.e., the FQoL Scale-21) and its scores for Taiwanese families of children and youth with intellectual disability and developmental delay (age 0-18). Results from 400 Taiwanese respondents suggested that the FQoL Scale-21 has the potential to be used as an indicator of positive outcomes in intervention evaluation, policy making, and service delivery.

  4. A 3.1 Mb Microdeletion of 3p21.31 Associated with Cortical Blindness, Cleft Lip, CNS Abnormalities, and Developmental Delay

    PubMed Central

    Haldeman-Englert, Chad R.; Gai, Xiaowu; Perin, Juan Carlos; Ciano, Melissa; Halbach, Sara S.; Geiger, Elizabeth A.; McDonald-McGinn, Donna M.; Hakonarson, Hakon; Zackai, Elaine H.; Shaikh, Tamim H.

    2009-01-01

    We report a 3.1 Mb de novo deletion of 3p21.31 in a 3 ½ year old female with cortical blindness, cleft lip, CNS abnormalities, and gross developmental delays. Examination of the region showed ~80 genes to be involved in the deletion. Functional analysis of the deleted genes suggests that several of them may be important in normal neuronal maturation and function. Thus, haploinsufficiency of one or more of these genes could potentially contribute to the observed phenotype. Our patient does not have clinical features that overlap completely with either proximal or distal 3p deletions, suggesting that the deletion seen in our patient leads to a distinct clinical phenotype not described previously. PMID:19100872

  5. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

    PubMed

    Cingöz, Sultan; Bache, Iben; Bjerglund, Lise; Ropers, Hans-Hilger; Tommerup, Niels; Jensen, Hanne; Brøndum-Nielsen, Karen; Tümer, Zeynep

    2011-01-01

    Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.

  6. Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.

    PubMed

    Abeliovich, D; Dagan, J; Werner, M; Lerer, I; Shapira, Y; Meiner, V

    1995-01-01

    Two de novo abnormal derivatives of chromosome 15, inv dup(15) and dup(15q) were found in a girl with developmental delay and mild dysmorphological signs. Fluorescence in situ hybridization, using DNA probes of the Prader-Willi/Angelman syndromes (PWS/AS) critical region and chromosome-15-specific alpha-satellite, combined with molecular analysis using dinucleotide repeat polymorphisms within the PWS/AS region and the parent-of-origin specific methylation sites at the locus D15S63, shed light on how the abnormal karyotype was formed. We suggest that a translocation between the two homologues of maternal chromosomes 15 resulted in the formation of dup(15q) and two reciprocal products: an acentric fragment of 15q that was lost and a centric fragment that underwent U-type reunion to form inv dup(15).

  7. Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.

    PubMed

    Akhtar, S; Bron, A J; Qin, X; Creer, R C; Guggenheim, J A; Meek, K M

    2005-02-01

    Gelatinous drop-like corneal dystrophy (GDLD) is an early-onset, autosomal recessive condition characterised by amyloid deposits within the cornea. We report the histopathological and molecular genetic findings in a Caucasian child with GDLD who also exhibited global developmental delay. Bilateral lamellar keratoplasty was carried out at age 6 and 7 years. Tissue was fixed for light and electron microscopy, including immunoelectronmicroscopy. The coding region of the M1S1 gene was screened for mutations in the affected proband and available relatives, using DNA extracted from mouthwashes. Nodular deposits, which were present subepithelially and in the central superficial stroma, stained typically for amyloid with PAS and Congo red. A nodular deposit of amyloid, together with large amounts of lactoferrin and sparse amounts of keratoepithelin (betaig-h3), was present in the central superficial stroma, causing destruction of Bowman's layer and elevation of the thinned, degenerate epithelium. Around the deposit zone, the stroma exhibited large numbers of thick filamentous proteoglycan deposits. While the affected child was homozygous for a novel A1133 C single-nucleotide polymorphism (SNP) that resulted in an aspartic acid to alanine substitution at position 173 of the M1S1 coding sequence, this polymorphism was also found at relatively high frequency in a sample of normal controls, enabling exclusion of the M1S1 gene as the disease locus. Increased epithelial permeability in GDLD may be explained in part by an altered membrane permeability of the superficial epithelial cells. An association with developmental delay has not been reported previously.

  8. Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.

    PubMed

    Tomkins, Darrell J; McDonald, Helen L; Farrell, Sandra A; Brown, Carolyn J

    2002-01-01

    A 46,X,r(X) karyotype was found in a three and a half year old girl with short stature, facial dysmorphism and developmental delay. The clinical findings were consistent with the phenotype described in a limited number of patients with small ring X chromosomes lacking the XIST locus, a critical player in the process of X chromosome inactivation. Surprisingly, in our patient, fluorescent in situ hybridisation demonstrated that the XIST locus was present on the ring X. However, expression studies showed that there was no XIST transcript in peripheral blood cells, suggesting that the ring X had not been inactivated. This was confirmed by the demonstration that both of the patient's alleles for the androgen receptor gene were unmethylated, and that both of the patient's ZXDA alleles were expressed. The active nature of the ring X would presumably result in overexpression of genes that may account for the developmental delay observed for the patient. Using polymorphic markers along the X chromosome, the ring X was determined to be of paternal origin with one breakpoint in the long arm between DXS8037 and XIST and one in the short arm in Xp11.2 between DXS1126 and DXS991. To attempt to determine why the XIST gene failed to be expressed, the promoter region was sequenced and found to have a base change at the same location as a variant previously associated with nonrandom X chromosome inactivation. This mutation was not seen in over one hundred normal X chromosomes examined; however, it was observed in the paternal grandmother who did not show substantial skewing of X chromosome inactivation.

  9. [The Mediating Role of Parenting Self-Efficacy on Parenting Stress and Quality of Life in Parents of Young Children With Developmental Delay].

    PubMed

    Sun, Yi; Wu, Wei-Wen; Lin, Kuan-Chia; Chen, Jo-Lin

    2016-10-01

    Previous studies indicate that parents of developmentally delayed children have higher parenting stress (PS) and lower quality of life (QoL) than parents of healthy children. Parenting self-efficacy (PSE) may mediate the effects of PS on the QoL of parents. The present study explores the mediating role of PSE between PS and the QoL of parents of developmentally delayed children and compares the differences in several variables between fathers and mothers. A cross-sectional research design was used to study a sample of 70 parent dyads. Instruments used were the Basic Information Form, Parenting Stress Index Short Form (PSI-SF), Parenting Self-efficacy Scale (PSE Scale), and World Health Organization Quality of Life-BREF Taiwan version (WHOQOL-BREF). (1) Participants had a moderate level of QoL, PS, and PSE. (2) The PS of participants was significantly and negatively correlated with both QoL and PSE while their PSE was significantly and positively correlated with QoL. (3) The PSE of the fathers completely mediated the effects of PS on their QoL (p < .001), accounting for 62.2% of observed variation, while the PSE of the mothers partially mediated the effects of PS on their QoL (p < .05), accounting for 59.5% of observed variation. PSE was identified as the mediator between PS and QoL in both fathers and mothers. The PSE of the fathers completely mediated the effect of PS on QoL, while the PSE of the mothers partially mediated the effect of PS on QoL. Further research that explores the factors that affect the QoL of parents and then uses the results to develop interventions to enhance the PSE of parents, especially fathers, is recommended.

  10. The reliability and validity of the Greenspan Social Emotional Growth Chart (GSEGC) in Israeli children with developmental delay and autism-A pilot study.

    PubMed

    Tede, Zoma; Ophir Cohen, Michal; Riskin, Arieh; Tirosh, Emanuel

    2016-08-01

    Healthy social-emotional development in early childhood is important as an indicator of general well-being and for positive outcome in later childhood. Therefore, screening for potential social emotional problems is valuable. Accurate, usable, and affordable screening tools have been especially difficult to develop. The cross cultural validity of a screening instrument should be assessed. The aim of the current study was to investigate the reliability and validity of the Greenspan social-emotional growth chart (GSEGC) in Israeli children of three diagnostic groups: (1) Autistic spectrum disorder (ASD) (2) Developmental language disorder (DLD) and (3) Developmental motor delay (DMD). An internal reliability of alpha of 0.95 for the GSEGC standardized for age score and of 0.78 for the sensory processing sub scores was found. A confirmatory factor analysis (CFA) using a 5-factor model confirmed an acceptable fit. Positive (62.86%) and negative (94.73%) predictive values also support the clinical usefulness of the GSEGC in identifying children at low risk for ASD. The GSEGC appears to be a promising tool for the screening of social emotional problems in early childhood. Further studies in different cultures are warranted. Copyright © 2016 Elsevier Ltd. All rights reserved.

  11. 335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.

    PubMed

    Alesi, Viola; Bertoli, Marta; Barrano, Giuseppe; Torres, Barbara; Pusceddu, Silvia; Pastorino, Myriam; Perria, Chiara; Nardone, Anna Maria; Novelli, Antonio; Serra, Gigliola

    2012-09-01

    About 10% of causative mutations for mental retardation in male patients involve X chromosome (X-linked mental retardation, XLMR). We describe a case of a 3-year-old boy presenting with developmental delay, autistic features and growth and speech delay. Array-CGH analysis detected a microduplication on the X chromosome (Xp11.2p11.3), spanning 335.4 kb and including 3 known genes (ZNF81, ZNF182 and SPACA5). Genome-wide association studies show that approximately 30% of mutations causing XLMR are located in Xp11.2p11.3, where few pathogenic genes have been identified to date (such as ZNF41, PQB1 and ZNF81). ZNF81 codifies a zinc finger protein and mutations (non-sense mutations, deletions and structural rearrangements) involving this gene have already been described in association with mental retardation. Larger duplications in the same region have also been observed in association with mental retardation, and, in one case, the over-expression of ZNF81 has also been verified by mRNA quantification. No duplications of the single gene have been identified. To our knowledge, the microduplication found in our patient is the smallest ever described in Xp11.2p11.3. This suggests that the over-expression of ZNF81 could have pathological effects.

  12. Social skills and developmental delay: importance in predicting the auditory and speech outcomes after cochlear implantation in children.

    PubMed

    Chang, Young-Soo; Moon, Il Joon; Kim, Eun Yeon; Ahn, Jungmin; Chung, Won-Ho; Cho, Yang-Sun; Hong, Sung Hwa

    2015-02-01

    Preoperative evaluation of social interaction and global development levels using the Vineland Social Maturity Scale (VSMS) and Bayley Scales of Infant Development-2nd edition (BSID-II) may be beneficial in predicting the postoperative outcome in pediatric cochlear implant recipients. In particular, cautious preoperative counseling regarding the poor postoperative prognosis may be necessary in children with low social skills and developmental status. To determine the clinical benefit of preoperative evaluation of social interaction and global development levels using VSMS and BSID-II in predicting the postoperative outcome in pediatric cochlear implant recipients. A total of 65 deaf children who underwent cochlear implantation (CI) were included in this study. Age at the time of implantation ranged from 12 to 76 months. All of the children underwent a comprehensive preimplant psychological assessment by a clinical psychologist. The VSMS and BSID-II were used for evaluating social skills and a child's development preoperatively. A social quotient (SQ) was calculated by using the VSMS for each subject using the following formula: (social age/chronological age) × 100. The auditory perception and speech production abilities were evaluated using the Categories of Auditory Performance (CAP) scale and the Korean version of the Ling's stage (K-Ling), respectively, at 1 year after CI. The associations between the preoperative SQ/developmental levels and the postoperative auditory/speech outcomes were evaluated. The mean SQ was significantly decreased in the enrolled children (90.6 ± 26.1). The improvement in CAP score at 1 year after CI was correlated with preoperative SQ. The improvements in phonemic and phonologic levels of K-Ling were correlated with preoperative VSMS and BSID-II scores.

  13. The Effects of, Lined Paper, Prompting, Tracing, Rewards, and Fading to Increase Handwriting Performance and Legibility with Two Preschool Special Education Students Diagnosed with Developmental Delays, and Fine Motor Deficits

    ERIC Educational Resources Information Center

    Smith, Erin; McLaughlin, T. F.; Neyman, Jennifer; Rinaldi, Lisa

    2013-01-01

    This study was designed to examine the effects of tracing and fading prompts to improve the handwriting of two preschoolers both diagnosed as Developmentally Delayed (DD) and one of whom had fine motor goals. The study took place in a self-contained special education public preschool classroom located in the Pacific Northwest. The results showed…

  14. How do children with autism spectrum disorders express pain? A comparison with developmentally delayed and typically developing children.

    PubMed

    Rattaz, Cécile; Dubois, Amandine; Michelon, Cécile; Viellard, Marine; Poinso, François; Baghdadli, Amaria

    2013-10-01

    There is a lack of knowledge about pain reactions in children with autism spectrum disorders (ASD), who have often been considered as insensitive to pain. The objective of this study was to describe the facial, behavioral and physiological reactions of children with ASD during venipuncture and to compare them to the reactions of children with an intellectual disability and nonimpaired control children. We also examined the relation between developmental age and pain reactions. The sample included 35 children with ASD, 32 children with an intellectual disability, and 36 nonimpaired children. The children were videotaped during venipuncture and their heart rate was recorded. Facial reactions were assessed using the Child Facial Coding System (CFCS) and behavioral reactions were scored using the Noncommunicating Children's Pain Checklist (NCCPC). A linear mixed-effects model showed that children's reactions increased between baseline and venipuncture and decreased between the end of venipuncture and the recovery period. There was no significant difference between groups regarding the amount of facial, behavioral and physiological reactions. However, behavioral reactions seemed to remain high in children with ASD after the end of the venipuncture, in contrast with children in the 2 other groups. Moreover, we observed a significant decrease in pain expression with age in nonimpaired children, but no such effect was found regarding children with ASD. The data reveal that children with ASD displayed a significant pain reaction in this situation and tend to recover more slowly after the painful experience. Improvement in pain assessment and management in this population is necessary. Copyright © 2013 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

  15. Developmental delays and locomotor activity in the C57BL6/J mouse following neonatal exposure to the fully-brominated PBDE, decabromodiphenyl ether.

    PubMed

    Rice, Deborah C; Reeve, Elizabeth A; Herlihy, Aleece; Zoeller, R Thomas; Thompson, W Douglas; Markowski, Vincent P

    2007-01-01

    After several decades of commercial use, the flame retardant chemicals polybrominated diphenyl ethers (PBDEs) and their metabolites have become pervasive environmental contaminants with a global distribution. PBDEs have entered the food chain and increasing levels can be detected in the human body. Decabrominated diphenyl ether (decaBDE) is currently the most widely used of the PBDEs in the United States. Despite its widespread use, little is known about the health effects of decaBDE. The current study examined the effects of neonatal exposure to decaBDE in the inbred C57BL6/J mouse. Neonatal male and female mice were exposed to a daily oral dose of 0, 6, or 20 mg/kg decaBDE from postnatal day 2 to 15. Three groups of endpoints were examined: the ontogeny of sensorimotor responses and serum thyroxine levels in immature animals, and locomotor activity in adult animals. In immature animals, 20 mg/kg/day produced developmental delays in the acquisition of the palpebral reflex. At this age, exposed males also showed a dose-related reduction of serum thyroxine levels. As adults, decaBDE exposure altered the normal sex- and age-specific characteristics of spontaneous locomotor activity. The most striking effect was an increase of activity during the first 1.5 h of the 2 h assessment in males exposed to 20 mg/kg/day decaBDE. These effects suggest that decaBDE is a developmental neurotoxicant that can produce long-term behavioral changes following a discrete period of neonatal exposure.

  16. Depressive and Anxiety Symptom Trajectories From School-Age Through Young Adulthood in Samples With Autism Spectrum Disorder and Developmental Delay

    PubMed Central

    Gotham, Katherine; Brunwasser, Steven M.; Lord, Catherine

    2015-01-01

    Objective To (1) model growth in anxiety and depressive symptoms from late school age through young adulthood in individuals with autism spectrum disorder (ASD) and controls with developmental delay (DD); and (2) assess relationships between internalizing growth patterns, participant characteristics, baseline predictors, and distal outcomes. Method Data were collected between 6-24 years of age in 165 participants (n=109 with ASD; n=56 with nonspectrum DD), most of whom received diagnostic evaluations in both childhood and early adulthood. Questionnaires were collected approximately every 3-6 months between ages 9-24. Parent-rated Child and Adult Behavior Checklists (CBCL; ABCL) and Developmental Behavior Checklist anxiety- and depression-related subscale distributions were modeled with mixed-effects Poisson models, covarying diagnosis, age, verbal IQ (VIQ), gender, and significant two- and three-way interactions. Results Anxiety was positively associated with VIQ, and controlling for VIQ, both anxiety and depressive symptoms were greater in ASD than nonspectrum participants. Female gender predicted greater increases over time in anxiety and depressive symptoms for both diagnostic groups. Lower maternal education was associated with increasing internalizing symptoms in a subset of less verbal individuals with ASD. In exploratory post-hoc analyses, internalizing symptoms were associated with poorer emotional regulation in school age, and with lower life satisfaction and greater social difficulties in early adulthood. Conclusion Findings support previous claims that individuals with ASD are at particular risk for affect- and anxiety-specific problems. While symptom levels in females increase at a faster rate throughout adolescence, males with ASD appear to have elevated levels of depressive symptoms in school age that are maintained into young adulthood. PMID:25901773

  17. Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study123

    PubMed Central

    Schmidt, Rebecca J; Tancredi, Daniel J; Ozonoff, Sally; Hansen, Robin L; Hartiala, Jaana; Allayee, Hooman; Schmidt, Linda C; Tassone, Flora; Hertz-Picciotto, Irva

    2012-01-01

    Background: Periconceptional folate is essential for proper neurodevelopment. Objective: Maternal folic acid intake was examined in relation to the risk of autism spectrum disorder (ASD) and developmental delay (DD). Design: Families enrolled in the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study from 2003 to 2009 were included if their child had a diagnosis of ASD (n = 429), DD (n = 130), or typical development (TD; n = 278) confirmed at the University of California Davis Medical Investigation of Neurodevelopmental Disorders Institute by using standardized clinical assessments. Average daily folic acid was quantified for each mother on the basis of dose, brands, and intake frequency of vitamins, supplements, and breakfast cereals reported through structured telephone interviews. Results: Mean (±SEM) folic acid intake was significantly greater for mothers of TD children than for mothers of children with ASD in the first month of pregnancy (P1; 779.0 ± 36.1 and 655.0 ± 28.7 μg, respectively; P < 0.01). A mean daily folic acid intake of ≥600 μg (compared with <600 μg) during P1 was associated with reduced ASD risk (adjusted OR: 0.62; 95% CI: 0.42, 0.92; P = 0.02), and risk estimates decreased with increased folic acid (P-trend = 0.001). The association between folic acid and reduced ASD risk was strongest for mothers and children with MTHFR 677 C>T variant genotypes. A trend toward an association between lower maternal folic acid intake during the 3 mo before pregnancy and DD was observed, but not after adjustment for confounders. Conclusions: Periconceptional folic acid may reduce ASD risk in those with inefficient folate metabolism. The replication of these findings and investigations of mechanisms involved are warranted. PMID:22648721

  18. Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

    PubMed

    Newbury, Dianne F; Warburton, Pamela C; Wilson, Natalie; Bacchelli, Elena; Carone, Simona; Lamb, Janine A; Maestrini, Elena; Volpi, Emanuela V; Mohammed, Shehla; Baird, Gillian; Monaco, Anthony P

    2009-02-15

    Autism is a neurodevelopmental disorder characterized by deficits in reciprocal social interaction and communication, and repetitive and stereotyped behaviors and interests. Previous genetic studies of autism have shown evidence of linkage to chromosomes 2q, 3q, 7q, 11p, 16p, and 17q. However, the complexity and heterogeneity of the disorder have limited the success of candidate gene studies. It is estimated that 5% of the autistic population carry structural chromosome abnormalities. This article describes the molecular cytogenetic characterization of two chromosome 2q deletions in unrelated individuals, one of whom lies in the autistic spectrum. Both patients are affected by developmental disorders with language delay and communication difficulties. Previous karyotype analyses described the deletions as [46,XX,del(2)(q24.1q24.2)dn]. Breakpoint refinement by FISH mapping revealed the two deletions to overlap by approximately 1.1Mb of chromosome 2q24.1, a region which contains just one gene--potassium inwardly rectifying channel, subfamily J, member 3 (KCNJ3). However, a mutation screen of this gene in 47 autistic probands indicated that coding variants in this gene are unlikely to underlie the linkage between autism and chromosome 2q. Nevertheless, it remains possible that variants in the flanking genes may underlie evidence of linkage at this locus.

  19. Comparison of the Vineland Social Maturity Scale, the Vineland Adaptive Behavior Scales--survey form, and the Bayley Scales of Infant Development with infants evaluated for developmental delay.

    PubMed

    Raggio, D J; Massingale, T W

    1993-12-01

    The Vineland Adaptive Behavior Scales is an extensive revision of the Vineland Social Maturity Scale; however, research comparing the two scales with different populations and measures of intelligence is limited. The Vineland Adaptive Behavior Scales--Survey Form, the Vineland Social Maturity Scale, and the mental scale of the Bayley Scales of Infant Development were administered to 44 infants referred for evaluation of developmental delay. The differences between means were compared and shared variance examined. The Vineland Adaptive Behavior Scales--Survey Form scores were significantly higher than those of the Vineland Social Maturity Scale and the Bayley Mental Development Index. No significant differences were found between the means of the Vineland Social Maturity Scale and the Bayley Scales of Infant Development--Mental Development Index. Correlations were .59 between the Bayley Index and scores on the Vineland--Survey Form and .72 between the Bayley Index and the Vineland Social Maturity Scale. Between versions of the Vineland scale r = .39. Implications for diagnosis and educational classification are discussed.

  20. Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

    PubMed

    van der Crabben, Saskia N; Harakalova, Magdalena; Brilstra, Eva H; van Berkestijn, Frédérique M C; Hofstede, Floris C; van Vught, Adrianus J; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M

    2014-01-01

    Phosphatidyl inositol glycan (PIG) enzyme subclasses are involved in distinct steps of glycosyl phosphatidyl inositol anchor protein biosynthesis. Glycolsyl phosphatidyl inositol-anchored proteins have heterogeneous functions; they can function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Germline mutations in genes encoding different members of the PIG family result in diverse conditions with (severe) developmental delay, (neonatal) seizures, hypotonia, CNS abnormalities, growth abnormalities, and congenital abnormalities as hallmark features. The variability of clinical features resembles the typical diversity of other glycosylation pathway deficiencies such as the congenital disorders of glycosylation. Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities. X-exome sequencing in the proband identified a c.278C>T (p.Pro93Leu) mutation in the PIGA gene. The mother and maternal grandmother were unaffected carriers and the mother showed 100% skewing of the X-chromosome harboring the mutation. These results together with the clinical similarity of the patient reported here and the previously reported patients with a germline nonsense mutation in PIGA support the determination that this mutation caused the phenotype in this family. © 2013 Wiley Periodicals, Inc.