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Sample records for quantify developmental delay

  1. 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)

  2. 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.

  3. 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.

  4. 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

  5. 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

  6. 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

  7. 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.

  8. 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

  9. 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…

  10. 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.

  11. 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.

  12. 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.

  13. 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…

  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. 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

  16. 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…

  17. 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.

  18. 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…

  19. 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…

  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. 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

  2. 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.

  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. 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.

  6. 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.

  7. 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.

  8. 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

  9. 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…

  10. 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…

  11. 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…

  12. 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…

  13. 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.…

  14. 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

  15. 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.

  16. 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

  17. 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

  18. 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...

  19. 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.

  20. 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

  1. 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…

  2. 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…

  3. 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…

  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. 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

  7. 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…

  8. 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

  9. 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)

  10. 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…

  11. 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,…

  12. 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,…

  13. 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.

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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…

  1. 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,…

  2. 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…

  3. 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…

  4. 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…

  5. 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…

  6. 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…

  7. 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…

  8. 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…

  9. 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…

  10. "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…

  11. 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)

  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. 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.…

  14. 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…

  15. 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)…

  16. 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.)…

  17. 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…

  18. 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…

  19. 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…

  20. 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…

  1. 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…

  2. 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…

  3. 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…

  4. 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.

  5. 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…

  6. 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…

  7. 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…

  8. 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…

  9. 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.

  10. 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

  11. 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.

  12. 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

  13. 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.

  14. 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

  15. 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

  16. 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

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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

  2. 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

  3. cAMP modulation during sheep in vitro oocyte maturation delays progression of meiosis without affecting oocyte parthenogenetic developmental competence.

    PubMed

    Buell, Margaret; Chitwood, James L; Ross, Pablo J

    2015-03-01

    Removal of oocytes from their natural inhibitory follicular environment results in spontaneous resumption of meiosis independent of normal signaling events that occur in vivo. Controlling the onset of meiotic resumption via maintenance of elevated oocyte cAMP levels with adenylyl cyclase (AC) activation and phosphodiesterase (PDE) inhibition, and subsequent hormone stimulation with follicle FSH has been shown to dramatically improve developmental competence of bovine and murine IVM oocytes. This study evaluated the effect of cAMP modulation during IVM of sheep oocytes on meiotic progression and development to blastocyst after parthenogenetic activation. Changes in oocyte cAMP levels were quantified during the first 2h of in vitro maturation in control or cAMP-modulating medium. No significant changes in intra-oocyte cAMP were observed under control conditions, though a slight and transient drop was noticed at 15 min of maturation. Addition of the AC stimulator Forskolin and the PDE inhibitors IBMX altered the cAMP profile, resulting in 10-fold elevation of cAMP by 15 min and sustained >3-fold elevated levels from 30 to 120 min. The effect of cAMP elevation on meiotic resumption was measured by completion of germinal vesicle breakdown. Modulated oocytes were significantly delayed when compared to control media oocytes. Also, progression to MII was significantly delayed in modulated versus control oocytes at 20 and 24h, though no differences persisted to 28 h. Lastly, when control and modulated oocytes were parthenogenetically activated, no differences in blastocyst formation were observed. Thus, while cAMP modulation delayed meiotic progression, it did not improve developmental competence of sheep IVM oocytes.

  4. 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

  5. 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

  6. 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…

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. 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

  14. 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.

  15. 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

  16. 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.

  17. 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

  18. 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.

  19. 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

  20. 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

  1. 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

  2. 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

  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. 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.

  5. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

    PubMed Central

    Sirisena, Nirmala D.; Wijetunge, U. Kalpani S.; de Silva, Ramya; Dissanayake, Vajira H. W.

    2013-01-01

    A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22→pter)]. This is the first reported case of a de novo deletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome. PMID:23984121

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  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. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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.

  17. 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.

  18. 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

  19. 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

  20. 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…

  1. 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.

  2. 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.

  3. 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…

  4. 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…

  5. 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,…

  6. 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…

  7. 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,…

  8. 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…

  9. 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…

  10. 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…

  11. 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)…

  12. 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…

  13. 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,…

  14. 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…

  15. 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…

  16. 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…

  17. 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…

  18. 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…

  19. 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.

  20. 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.

  1. 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

  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. 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.

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. 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.

  9. 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

  10. 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.

  11. 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

  12. 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.

  13. 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.

  14. 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.

  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. 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

  17. 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.

  18. 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.

  19. 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

  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. 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.

  3. 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

  4. 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

  5. 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.

  6. 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.

  7. 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

  8. 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

  9. 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…

  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. 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.

  12. 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

  13. 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.

  14. 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.

  15. 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

  16. 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.

  17. 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.

  18. 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.

  19. 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

  20. 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

  1. 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

  2. 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...

  3. 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…

  4. 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…

  5. 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.

  6. 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

  7. 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…

  8. 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

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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

  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. 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.

  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. 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;…

  4. Parental Satisfaction with a Home-Based Intervention for Developmentally Delayed Children in Switzerland: A Survey over a 10-year Period

    ERIC Educational Resources Information Center

    Favez, Nicolas; Metral, Eric; Govaerts, Patrice

    2008-01-01

    This article presents a study of parental satisfaction with services provided to their child by an Early Intervention Service in Geneva, Switzerland. The Service offers psycho-educational home-based interventions for developmentally delayed children. Parents whose child used the service between 1991 and 2001 filled out a questionnaire with Likert…

  5. 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…

  6. 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…

  7. 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…

  8. 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…

  9. 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…

  10. 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…

  11. 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.…

  12. 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…

  13. 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…

  14. 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

  15. 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

  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. 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.

  18. 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

  19. 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

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. 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.

  11. 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

  12. 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...

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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…

  2. 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…

  3. 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.

  4. 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).

  5. 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

  6. 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.

  7. 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.

  8. 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…

  9. 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.

  10. 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.

  11. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

    PubMed Central

    Kasher, Paul R.; Schertz, Katherine E.; Thomas, Megan; Jackson, Adam; Annunziata, Silvia; Ballesta-Martinez, María J.; Campeau, Philippe M.; Clayton, Peter E.; Eaton, Jennifer L.; Granata, Tiziana; Guillén-Navarro, Encarna; Hernando, Cristina; Laverriere, Caroline E.; Liedén, Agne; Villa-Marcos, Olaya; McEntagart, Meriel; Nordgren, Ann; Pantaleoni, Chiara; Pebrel-Richard, Céline; Sarret, Catherine; Sciacca, Francesca L.; Wright, Ronnie; Kerr, Bronwyn; Glasgow, Eric; Banka, Siddharth

    2016-01-01

    Genetic studies of intellectual disability and identification of monogenic causes of obesity in humans have made immense contribution toward the understanding of the brain and control of body mass. The leptin > melanocortin > SIM1 pathway is dysregulated in multiple monogenic human obesity syndromes but its downstream targets are still unknown. In ten individuals from six families, with overlapping 6q16.1 deletions, we describe a disorder of variable developmental delay, intellectual disability, and susceptibility to obesity and hyperphagia. The 6q16.1 deletions segregated with the phenotype in multiplex families and were shown to be de novo in four families, and there was dramatic phenotypic overlap among affected individuals who were independently ascertained without bias from clinical features. Analysis of the deletions revealed a ∼350 kb critical region on chromosome 6q16.1 that encompasses a gene for proneuronal transcription factor POU3F2, which is important for hypothalamic development and function. Using morpholino and mutant zebrafish models, we show that POU3F2 lies downstream of SIM1 and controls oxytocin expression in the hypothalamic neuroendocrine preoptic area. We show that this finding is consistent with the expression patterns of POU3F2 and related genes in the human brain. Our work helps to further delineate the neuro-endocrine control of energy balance/body mass and demonstrates that this molecular pathway is conserved across multiple species. PMID:26833329

  12. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

    PubMed

    Kasher, Paul R; Schertz, Katherine E; Thomas, Megan; Jackson, Adam; Annunziata, Silvia; Ballesta-Martinez, María J; Campeau, Philippe M; Clayton, Peter E; Eaton, Jennifer L; Granata, Tiziana; Guillén-Navarro, Encarna; Hernando, Cristina; Laverriere, Caroline E; Liedén, Agne; Villa-Marcos, Olaya; McEntagart, Meriel; Nordgren, Ann; Pantaleoni, Chiara; Pebrel-Richard, Céline; Sarret, Catherine; Sciacca, Francesca L; Wright, Ronnie; Kerr, Bronwyn; Glasgow, Eric; Banka, Siddharth

    2016-02-04

    Genetic studies of intellectual disability and identification of monogenic causes of obesity in humans have made immense contribution toward the understanding of the brain and control of body mass. The leptin > melanocortin > SIM1 pathway is dysregulated in multiple monogenic human obesity syndromes but its downstream targets are still unknown. In ten individuals from six families, with overlapping 6q16.1 deletions, we describe a disorder of variable developmental delay, intellectual disability, and susceptibility to obesity and hyperphagia. The 6q16.1 deletions segregated with the phenotype in multiplex families and were shown to be de novo in four families, and there was dramatic phenotypic overlap among affected individuals who were independently ascertained without bias from clinical features. Analysis of the deletions revealed a ∼350 kb critical region on chromosome 6q16.1 that encompasses a gene for proneuronal transcription factor POU3F2, which is important for hypothalamic development and function. Using morpholino and mutant zebrafish models, we show that POU3F2 lies downstream of SIM1 and controls oxytocin expression in the hypothalamic neuroendocrine preoptic area. We show that this finding is consistent with the expression patterns of POU3F2 and related genes in the human brain. Our work helps to further delineate the neuro-endocrine control of energy balance/body mass and demonstrates that this molecular pathway is conserved across multiple species.

  13. Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

    PubMed Central

    Chong, Jessica X.; Yu, Joon-Ho; Lorentzen, Peter; Park, Karen M.; Jamal, Seema M.; Tabor, Holly K.; Rauch, Anita; Saenz, Margarita Sifuentes; Boltshauser, Eugen; Patterson, Karynne E.; Nickerson, Deborah A.; Bamshad, Michael J.

    2015-01-01

    Purpose The pace of Mendelian gene discovery is slowed by the “n-of-1 problem” – the difficulty of establishing causality of a putatively pathogenic variant in a single person or family. Identification of an unrelated person with an overlapping phenotype and suspected pathogenic variant in the same gene can overcome this barrier but is often impeded by lack of a convenient or widely-available way to share data on candidate variants / genes among families, clinicians and researchers. Methods Social networking among families, clinicians and researchers was used to identify three children with variants of unknown significance in KDM1A and similar phenotypes. Results De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distinctive facial features. Conclusion Social networking is a potentially powerful strategy to discover genes for rare Mendelian conditions, particularly those with non-specific phenotypic features. To facilitate the efforts of families to share phenotypic and genomic information with each other, clinicians, and researchers, we developed the Repository for Mendelian Genomics Family Portal (RMD-FP). Design and development of a web-based tool, MyGene2, that enables families, clinicians and researchers to search for gene matches based on analysis of phenotype and exome data deposited into the RMD-FP is underway. PMID:26656649

  14. A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.

    PubMed

    Miya, Kazushi; Shimojima, Keiko; Sugawara, Midori; Shimada, Shino; Tsuri, Hiroyuki; Harai-Tanaka, Tomomi; Nakaoka, Sachiko; Kanegane, Hirokazu; Miyawaki, Toshio; Yamamoto, Toshiyuki

    2012-09-10

    The contiguous gene syndrome involving 8p11.2 is recognized as a combined phenotype of both Kallmann syndrome and hereditary spherocytosis, because the genes responsible for these 2 clinical entities, the fibroblast growth factor receptor 1 (FGFR1) and ankyrin 1 (ANK1) genes, respectively, are located in this region within a distance of 3.2Mb. We identified a 3.7Mb deletion of 8p11.2 in a 19-month-old female patient with hereditary spherocytosis. The identified deletion included ANK1, but not FGFR1, which is consistent with the absence of any phenotype or laboratory findings of Kallmann syndrome. Compared with the previous studies, the deletion identified in this study was located on the proximal end of 8p, indicating a pure interstitial deletion of 8p11.21. This patient exhibited mild developmental delay and distinctive facial findings in addition to hereditary spherocytosis. Thus, some of the genes included in the deleted region would be related to these symptoms.

  15. Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay.

    PubMed

    Bose, Divya; Krishnamurthy, Venkatesh; Venkatesh, K S; Aiyaz, Mohamed; Shetty, Mitesh; Rao, Sudha N; Kutty, A V M

    2015-01-01

    This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

  16. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

    PubMed Central

    Tavormina, P L; Bellus, G A; Webster, M K; Bamshad, M J; Fraley, A E; McIntosh, I; Szabo, J; Jiang, W; Jabs, E W; Wilcox, W R; Wasmuth, J J; Donoghue, D J; Thompson, L M; Francomano, C A

    1999-01-01

    We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1). However, three of the four individuals developed extensive areas of acanthosis nigricans beginning in early childhood, suffer from severe neurological impairments, and have survived past infancy without prolonged life-support measures. The FGFR3 mutation (A1949T: Lys650Met) occurs at the nucleotide adjacent to the TD type II (TD2) mutation (A1948G: Lys650Glu) and results in a different amino acid substitution at a highly conserved codon in the kinase domain activation loop. Transient transfection studies with FGFR3 mutant constructs show that the Lys650Met mutation causes a dramatic increase in constitutive receptor kinase activity, approximately three times greater than that observed with the Lys650Glu mutation. We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. PMID:10053006

  17. A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies

    PubMed Central

    Ma, Ruiyu; Deng, Linbei; Xia, Yan; Wei, Xianda; Cao, Yingxi; Guo, Ruolan; Zhang, Rui; Guo, Jing; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Copy number variation (CNV) is of great significance in human evolution and disorders. Through tracing the parent-of-origin of de novo pathogenic CNVs, we are expected to investigate the relative contributions of germline genomic stability on reproductive health. In our study, short tandem repeat (STR) and single nucleotide polymorphism (SNP) were used to determine the parent-of-origin of 87 de novo pathogenic CNVs found in unrelated patients with intellectual disability (ID), developmental delay (DD) and multiple congenital anomalies (MCA). The results shown that there was a significant difference on the distribution of the parent-of-origin for different CNVs types (Chi-square test, p = 4.914 × 10−3). An apparently paternal bias existed in deletion CNVs and a maternal bias in duplication CNVs, indicating that the relative contribution of paternal germline variations is greater than that of maternal to the origin of deletions, and vice versa to the origin of duplications. By analyzing the sequences flanking the breakpoints, we also confirmed that non-allelic homologous recombination (NAHR) served as the major mechanism for the formation of recurrent CNVs whereas non-SDs-based mechanisms played a part in generating rare non-recurrent CNVs and might relate to the paternal germline bias in deletion CNVs. PMID:28322228

  18. Risk of developmental delay of children aged between two and 24 months and its association with the quality of family stimulus

    PubMed Central

    Guimarães, Alessandro Fernandes; de Carvalho, Davi Vilela; Machado, Nathália Ádila A.; Baptista, Regiane Aparecida N.; Lemos, Stela Maris A.

    2013-01-01

    OBJECTIVE: To analyze the association between neurodevelopment and the family environment resources of children from the coverage area of a Basic Health Unit (BHU) of Belo Horizonte, Brazil, using a tool based on the Integrated Management of Childhood Illness (IMCI) strategy. METHODS: Cross-sectional study with a non-probabilistic sample involving 298 children aged between 2-24 months old, who attended a BHU in 2010. The assessment of child development and family resources made at the BHU lasted, in average, 45 minutes and included two tests - an adaptation of the Handbook for Monitoring Child Development in the Context of IMCI and an adapted version of the Family Environment Resource (FER) inventary. The nonparametric tests of Kruskal-Wallis and Mann-Whitney were used for the statistical analysis. RESULTS: The sample included 291 assessments, with 18.2% of children between 18 and 24 months old, 53.6% male gender, and 91.4% who did not attend day care centers. According to IMCI, 31.7% of the children were in the risk group for developmental delay. The total average score in FER was 38.0 points. Although it has been found an association between the IMCI outcome and the total FER score, all groups had low scores in the family environment assessment. CONCLUSIONS: The data indicate the need for childhood development screening in the primary health care and for early intervention programs aimed at this age group. PMID:24473949

  19. Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.

    PubMed

    Dietrich, Paula; Yue, Junming; E, Shuyu; Dragatsis, Ioannis

    2011-01-01

    Familial Dysautonomia (FD) is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population, and leads to death before the age of 40. The disease is characterized by abnormal development and progressive degeneration of the sensory and autonomic nervous system. A single base pair substitution in intron 20 of the Ikbkap gene accounts for 98% of FD cases, and results in the expression of low levels of the full-length mRNA with simultaneous expression of an aberrantly spliced mRNA in which exon 20 is missing. To date, there is no animal model for the disease, and the essential cellular functions of IKAP--the protein encoded by Ikbkap--remain unknown. To better understand the normal function of IKAP and in an effort to generate a mouse model for FD, we have targeted the mouse Ikbkap gene by homologous recombination. We created two distinct alleles that result in either loss of Ikbkap expression, or expression of an mRNA lacking only exon 20. Homozygosity for either mutation leads to developmental delay, cardiovascular and brain malformations, accompanied with early embryonic lethality. Our analyses indicate that IKAP is essential for expression of specific genes involved in cardiac morphogenesis, and that cardiac failure is the likely cause of abnormal vascular development and embryonic lethality. Our results also indicate that deletion of exon 20 abolishes gene function. This implies that the truncated IKAP protein expressed in FD patients does not retain any significant biological function.

  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.

  1. Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)

    PubMed Central

    Mohan, Shruthi; Koshy, Teena; Vekatachalam, Perumal; Nampoothiri, Sheela; Yesodharan, Dhanya; Gowrishankar, Kalpana; Kumar, Jeevan; Ravichandran, Latha; Joseph, Santhosh; Chandrasekaran, Anupama; Paul, Solomon F. D.

    2016-01-01

    Background & objectives: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD). We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD. Methods: One hundred and twenty seven children with idiopathic ID/DD were tested for subtelomeric rearrangements using karyotyping and FISH. Blood samples were cultured, harvested, fixed and GTG-banded using the standard protocols. Results: Rearrangements involving the subtelomeres were observed in 7.8 per cent of the tested samples. Detection of rearrangements visible at the resolution of the karyotype constituted 2.3 per cent, while those rearrangements detected only with FISH constituted 5.5 per cent. Five deletions and five unbalanced translocations were detected. Analysis of parental samples wherever possible was informative regarding the inheritance of the rearrangement. Interpretation & conclusions: The frequency of subtelomeric rearrangements observed in this study was within the reported range of 0-35 per cent. All abnormal genotypes were clinically correlated. Further analysis with array technologies presents a future prospect. Our results suggest the need to test individuals with ID/DD for subtelomeric rearrangements using sensitive methods such as FISH. PMID:27934799

  2. [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].

    PubMed

    Przybylska-Kruszewska, Amanda; Kutkowska-Kaźmierczak, Anna; Krzywdzińska, Amanda; Smyk, Marta; Nowakowska, Beata; Gryglicka, Halina; Obersztyn, Ewa; Hozyasz, Kamil K

    2016-04-01

    17p13.3 duplication is a rare and heterogeneous genetic syndrome. Microdeletions of this region are responsible for the symptoms of Miller-Dieker syndrome. We present a case of 17p13.3 duplication consisting of about 730kb in a patient with psychomotor developmental delay, concerning eye-hand coordination, posture, locomotion and speech. Among other symptoms, we found excessive physical development in relation to age, hypotonia, dysmorphic facial features (high and prominent forehead, low-set ears, hypertelorism, short nose, small upturned nose, narrow lips and pointed chin) and discrete changes in the CNS - enhanced frontal horns of the lateral ventricles and quite narrow corpus callosum. These symptoms overlap with phenotype of previously described patients with 17p13.3 duplication. The aberration has been identified by array comparative genomic hybridization (aCGH) and confirmed by fluorescence in situ hybridization (FISH). This publication presents a detailed, comparative characteristic of clinical fetures expression in discussed patient with 17p13.3 duplication and patients previously described in medical literature. Further cases with different variants of 17p13.3 duplication may contribute to characterise the specific genotypephenotype correlation.

  3. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

    PubMed

    Mikhail, Fady M; Lose, Edward J; Robin, Nathaniel H; Descartes, Maria D; Rutledge, Katherine D; Rutledge, S Lane; Korf, Bruce R; Carroll, Andrew J

    2011-10-01

    Recent studies suggest that copy number variations (CNVs) encompassing several genes involved in neurodevelopmental pathways are associated with a variety of neuropsychiatric phenotypes, including developmental delay (DD), mental retardation (MR), and autism spectrum disorders (ASDs). Here we present eight patients in a cohort of approximately 1,200 patients referred for clinical array CGH testing for various neurodevelopmental phenotypes,whowere identified to carry small (<1.0Mb with the majority <500 kb) either total gene or intragenic deletions encompassing critical synaptic and other neurodevelopmental genes. The presentations of these patients included variable degrees of DD, speech problems, learning disabilities, MR, autistic-like features, and mild non-specific dysmorphic features. These genes belong to four functional categories, including neuronal transcription factor genes (NFIA at 1p31.3, MEF2C at 5q14.3, andCAMAT1at 1p36.23p36.31), neuron-specific splicing factor genes (RBFOX1 at 16p13.2p13.3), genes involved in synapse formation and maintenance (CNTNAP2 at 7q35 and LRFN5 at 14q21.2), and genes involved in neurotransmission (CHRNA7 at 15q13.3 and IL1RAPL1 at Xp21.2p21.3). Our report expands the list of neurodevelopmental genes deleted in various neurobehavioral phenotypes, expands the phenotypes caused by haploinsufficiency of previously reported critical neurodevelopmental genes, and elucidates the clinical relevance and need for careful clinical interpretation of some small CNVs<500 kb. This report also suggests that small clinically relevant deletions encompassing critical synaptic and other neurodevelopmental genes can present clinically with various neurobehavioral phenotypes, which implies the existence of overlapping neuronal pathways in the pathogenesis of these phenotypes.

  4. The fatty acid compositions of erythrocyte and plasma polar lipids in children with autism, developmental delay or typically developing controls and the effect of fish oil intake.

    PubMed

    Bell, John Gordon; Miller, Deborah; MacDonald, Donald J; MacKinlay, Elizabeth E; Dick, James R; Cheseldine, Sally; Boyle, Rose M; Graham, Catriona; O'Hare, Anne E

    2010-04-01

    The erythrocyte and plasma fatty acid compositions of children with autism were compared in a case-control study with typically developing (TD) children and with children showing developmental delay (DD). Forty-five autism subjects were age-matched with TD controls and thirty-eight with DD controls. Fatty acid data were compared using paired t tests. In addition, blood fatty acids from treatment-naive autism subjects were compared with autism subjects who had consumed fish oil supplements by two-sample t tests. Relatively few differences were seen between erythrocyte fatty acids in autism and TD subjects although the former had an increased arachidonic acid (ARA):EPA ratio. This ratio was also increased in plasma samples from the same children. No changes in n-3 fatty acids or ARA:EPA ratio were seen when comparing autism with DD subjects but some SFA and MUFA were decreased in the DD subjects, most notably 24 : 0 and 24 : 1, which are essential components of axonal myelin sheaths. However, if multiple comparisons are taken into account, and a stricter level of significance applied, most of these values would not be significant. Autism subjects consuming fish oil showed reduced erythrocyte ARA, 22 : 4n-6, 22 : 5n-6 and total n-6 fatty acids and increased EPA, 22 : 5n-3, 22 : 6n-3 and total n-3 fatty acids along with reduced n-6:n-3 and ARA:EPA ratios. Collectively, the autism subjects did not have an underlying phospholipid disorder, based on erythrocyte fatty acid compositions, although the increased ARA:EPA ratio observed suggested that an imbalance of essential highly unsaturated fatty acids may be present in a cohort of autism subjects.

  5. Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

    PubMed Central

    Saitsu, Hirotomo; Tohyama, Jun; Kumada, Tatsuro; Egawa, Kiyoshi; Hamada, Keisuke; Okada, Ippei; Mizuguchi, Takeshi; Osaka, Hitoshi; Miyata, Rie; Furukawa, Tomonori; Haginoya, Kazuhiro; Hoshino, Hideki; Goto, Tomohide; Hachiya, Yasuo; Yamagata, Takanori; Saitoh, Shinji; Nagai, Toshiro; Nishiyama, Kiyomi; Nishimura, Akira; Miyake, Noriko; Komada, Masayuki; Hayashi, Kenji; Hirai, Syu-ichi; Ogata, Kazuhiro; Kato, Mitsuhiro; Fukuda, Atsuo; Matsumoto, Naomichi

    2010-01-01

    A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay. Although haploinsufficiency of STXBP1 was involved in early infantile epileptic encephalopathy in a previous different cohort study (group B), no mutations of STXBP1 were found in two of the remaining three subjects of group A (one was unavailable). We assumed that another gene within the deletion might contribute to the phenotype of group A. SPTAN1 encoding α-II spectrin, which is essential for proper myelination in zebrafish, turned out to be deleted. In two subjects, an in-frame 3 bp deletion and a 6 bp duplication in SPTAN1 were found at the initial nucleation site of the α/β spectrin heterodimer. SPTAN1 was further screened in six unrelated individuals with WS and hypomyelination, but no mutations were found. Recombinant mutant (mut) and wild-type (WT) α-II spectrin could assemble heterodimers with β-II spectrin, but α-II (mut)/β-II spectrin heterodimers were thermolabile compared with the α-II (WT)/β-II heterodimers. Transient expression in mouse cortical neurons revealed aggregation of α-II (mut)/β-II and α-II (mut)/β-III spectrin heterodimers, which was also observed in lymphoblastoid cells from two subjects with in-frame mutations. Clustering of ankyrinG and voltage-gated sodium channels at axon initial segment (AIS) was disturbed in relation to the aggregates, together with an elevated action potential threshold. These findings suggest that pathological aggregation of α/β spectrin heterodimers and abnormal AIS integrity resulting from SPTAN1 mutations were involved in pathogenesis of infantile epilepsy. PMID:20493457

  6. De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

    PubMed Central

    Chong, Jessica X.; McMillin, Margaret J.; Shively, Kathryn M.; Beck, Anita E.; Marvin, Colby T.; Armenteros, Jose R.; Buckingham, Kati J.; Nkinsi, Naomi T.; Boyle, Evan A.; Berry, Margaret N.; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C.M.; Kaplan, Paige; Kline, Antonie D.; Mercer, Catherine L.; Nowaczyk, Malgorzata J.M.; Klein Wassink-Ruiter, Jolien S.; McPherson, Elizabeth W.; Moreno, Regina A.; Scheuerle, Angela E.; Shashi, Vandana; Stevens, Cathy A.; Carey, John C.; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K.; Smith, Joshua D.; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; Cooper, Gregory M.; Davis, Colleen P.; Frazar, Christopher; Harrell, Tanya M.; He, Zongxiao; Jain, Preti; Jarvik, Gail P.; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A.; Krumm, Niklas; Leal, Suzanne M.; Luksic, Daniel; Marvin, Colby T.; McMillin, Margaret J.; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W.; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D.; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Staples, Jeffrey C.; Tabor, Holly K.; Tackett, Monica; Underwood, Jason G.; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Yi, Qian; Bamshad, Michael J.

    2015-01-01

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with “DA2A with severe neurological abnormalities” and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with “atypical” forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s). PMID:25683120

  7. Mutations in the Na+/Citrate Cotransporter NaCT (SLC13A5) in Pediatric Patients with Epilepsy and Developmental Delay

    PubMed Central

    Klotz, Jenna; Porter, Brenda E; Colas, Claire; Schlessinger, Avner; Pajor, Ana M

    2016-01-01

    Mutations in the SLC13A5 gene that codes for the Na+/citrate cotransporter, NaCT, are associated with early onset epilepsy, developmental delay and tooth dysplasia in children. In this study, we identify additional SLC13A5 mutations in nine epilepsy patients from six families. To better characterize the syndrome, families with affected children answered questions about the scope of illness and the treatment strategies. Currently, there are no effective treatments, but some antiepileptic drugs targeting the γ-aminobutyric acid system reduce seizure frequency. Acetazolamide, a carbonic anhydrase inhibitor and atypical antiseizure medication, decreases seizures in four patients. In contrast to previous reports, the ketogenic diet and fasting resulted in worsening of symptoms. The effects of the mutations on NaCT transport function and protein expression were examined by transient transfections of COS-7 cells. There was no transport activity from any of the mutant transporters, although some of the mutant transporter proteins were present on the plasma membrane. The structural model of NaCT suggests that these mutations can affect helix packing or substrate binding. We tested various treatments, including chemical chaperones and low temperatures, but none improved transport function in the NaCT mutants. Interestingly, coexpression of NaCT and the mutants results in decreased protein expression and activity of the wild-type transporter, indicating functional interaction. In conclusion, this study has identified additional SLC13A5 mutations in patients with chronic epilepsy starting in the neonatal period, with the mutations producing inactive Na+/citrate transporters. PMID:27261973

  8. Children at Risk for Developmental Delay Can Be Recognised by Stunting, Being Underweight, Ill Health, Little Maternal Schooling or High Gravidity

    ERIC Educational Resources Information Center

    Abubakar, Amina; Holding, Penny; Van de Vijver, Fons J. R.; Newton, Charles; Van Baar, Anneloes

    2010-01-01

    Aims: To investigate markers of risk status that can be easily monitored in resource-limited settings for the identification of children in need of early developmental intervention. Methods: Eighty-five children in Kilifi, Kenya, aged between 2 and 10 months at recruitment, were involved in a 10-month follow-up. Data on developmental outcome were…

  9. Early prediction of typical outcome and mild developmental delay for prioritisation of service delivery for very preterm and very low birthweight infants: a study protocol

    PubMed Central

    Caesar, Rebecca; Boyd, Roslyn N; Colditz, Paul; Cioni, Giovani; Ware, Robert S; Salthouse, Kaye; Doherty, Julie; Jackson, Maxine; Matthews, Leanne; Hurley, Tom; Morosini, Anthony; Thomas, Clare; Camadoo, Laxmi; Baer, Erica

    2016-01-01

    Introduction Over 80% of very preterm (<32 weeks) and very low birthweight (<1500 g) infants will have either typical development (TD) or mild developmental delay (MDD) in multiple domains. As differentiation between TD and MDD can be difficult, infants with MDD often miss opportunities for intervention. For many clinicians, the ongoing challenge is early detection of MDD without over servicing the population. This study aims to: (1) identify early clinical biomarkers for use in this population to predict and differentiate between TD and MDD at 24 months corrected age. (2) Determine the extent to which family and caregiver factors will contribute to neurodevelopmental and behavioural outcomes. Methods and analysis Participants will be a prospective cohort of 90 infants (<32 weeks and/or <1500 g). Between 34 weeks gestational age and 16 weeks post-term, infants will have a series of 5 neurological, neuromotor, neurobehavioural and perceptual assessments including General Movement Assessment at preterm, writhing and fidgety age. Primary caregivers will complete questionnaires to identify social risk, maternal depression and family strain. Extensive perinatal data will be collected from the medical record. At 24 months, corrected age (c.a) infants will be assessed using standardised tools including the Bayley Scales of Infant and Toddler Development—Third Edition (Bayley III). Longitudinal trajectories of early assessment findings will be examined to determine any predictive relationship with motor and cognitive outcomes at 24 months c.a. Published data of a cohort of Australian children assessed with the Bayley III at 24 months c.a will provide a reference group of term-born controls. Ethics Ethical approval has been obtained from the Queensland Children's Health Services Human Research Ethics Committee (HREC/13/QRCH/66), the University of Queensland (2013001019) and the Sunshine Coast Hospital and Health Service, SC-Research Governance (SSA/13

  10. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

    PubMed

    Bremer, Anna; Schoumans, Jacqueline; Nordenskjöld, Magnus; Anderlid, Britt-Marie; Giacobini, Maibritt

    2009-01-01

    Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, short neck, craniofacial malformations, hypotonia, as well as clinodactyly or syndactyly. Here, we report a patient with a 7.1Mb interstitial deletion of chromosome band 6p22.3, detected by genome-wide screening array CGH. The patient is a 4-year-old girl with developmental delay and dysmorphic features including eye abnormalities, short neck, and a ventricular septum defect. The deleted region at 6p22.3 in our patient overlaps with six out of the seven previously reported cases with a 6p22-24 interstitial deletion. This enabled us to further narrow down the critical region for the 6p22 deletion phenotype to 2.2Mb. Twelve genes are mapped to the overlapping deleted region, among them the gene encoding the ataxin-1 protein, the ATXN1 gene. Mice with homozygous deletions in ATXN1 are phenotypically normal but show cognitive delay. Haploinsufficiency of ATXN1 may therefore contribute to the learning difficulties observed in the patients harboring a 6p22 deletion.

  11. Delayed puberty.

    PubMed

    Fenichel, Patrick

    2012-01-01

    Since puberty is a long ongoing developmental process with significant individual and population differences in timing, the definition of delayed puberty for a given individual needs to rest on simple, though arbitrary criteria based on epidemiological data. Although several genes involved in the hypothalamic-pituitary-gonadal maturation cascade have been characterized recently from familial or sporadic cases of primitive isolated hypogonadotropic hypogonadism, many genes regulating puberty onset remain undetermined. In case of delayed puberty and/or primary amenorrhea, a complete clinical examination including a detailed past history will evaluate the development of secondary sex characteristics, verify the association with a growth delay and look for specific indicative features pertaining to the etiological diagnosis. This clinical check-up completed if necessary with biological, ultrasonographic, radiological and genetic investigations will try to determine which girls will have a permanent sexual infantilism of gonadal, hypophyseal or hypothalamic origin, which girls will undergo spontaneous but delayed puberty and which girls have primary amenorrhea with developed secondary sex characteristics. Therapeutic attitude will have to integrate etiological factors, statural prognosis, bone mass preservation and psychological factors.

  12. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.

    PubMed

    Quintela, Ines; Barros, Francisco; Lago-Leston, Ramon; Castro-Gago, Manuel; Carracedo, Angel; Eiris, Jesus

    2015-06-01

    We detail here the clinical description and the family genetic study of a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features and a combination of two rare genetic variants: a maternally inherited 16p13.11-p12.3 duplication and a de novo 12p12.1 deletion affecting SOX5. The 16p13.11 microduplication has been implicated in several neurodevelopmental and behavioral disorders and is characterized by variable expressivity and incomplete penetrance. The causes of this variation in phenotypic expression are not fully clear, representing a challenge in genetic diagnosis and counseling. However, several authors have proposed the two-hit model as one of the underlying mechanisms for this phenotypic heterogeneity. Our data could also support this two-hit model in which the 16p13.11-p12.3 duplication might contribute to the phenotype, not only as a single event but also in association with the SOX5 deletion. The SOX5 gene plays important roles in various developmental processes and has been associated with several neurodevelopmental disorders, mainly intellectual disability, developmental delay and language and/or speech delay as well as with behavior problems and dysmorphic features. However, many of the physical features and behavioral manifestations as well as language deficiencies present in our patient are consistent with those previously reported for SOX5 deletions. Patients carrying multiple genomic variants, as the one presented here, illustrate the difficulty in analyzing genotypes when the contribution of each variant results in overlapping phenotypes and/or, alternatively, in the modification of the clinical manifestations defined by the coexisting variant.

  13. The Effectiveness of the Constant Time Delay Procedure in Teaching Pre-School Academic Skills to Children with Developmental Disabilities in a Small Group Teaching Arrangement

    ERIC Educational Resources Information Center

    Aldemir, Ozgul; Gursel, Oguz

    2014-01-01

    Children with developmental disabilities are trained using different teaching arrangements. One of these arrangements is called small-group teaching. It has been ascertained that a small-group teaching arrangement is more effective than a one-to-one teaching arrangement. In that sense, teaching academic skills to pre-school children in small-group…

  14. Sunshine School's S.O.P.: Sequenced Objectives for Preschoolers. An Evaluation and Instruction Guide for Working with the Developmentally Delayed.

    ERIC Educational Resources Information Center

    Sunshine School, Gainesville, FL.

    Developed by professional educational staff, the curriculum of developmentally sequenced objectives for preschoolers (SOP) is designed for use in infant stimulation programs, for preschool training for all levels of retardation, with severely and profoundly retarded school age children, and for trainable and educable children during the earlier…

  15. Delayed effects of developmental exposure to low levels of the aryl hydrocarbon receptor agonist 3,3′,4,4′,5-pentachlorobiphenyl (PCB126) on adult zebrafish behavior

    PubMed Central

    Glazer, Lilah; Hahn, Mark E.; Aluru, Neelakanteswar

    2015-01-01

    Polychlorinated biphenyls (PCBs) are ubiquitous environmental contaminants. The most toxic PCBs are the non-ortho-substituted (“dioxin-like”) congeners that act through the aryl hydrocarbon receptor (AHR) pathway. In humans, perinatal exposure to dioxin-like PCBs is associated with neurodevelopmental toxicity in children. Yet, the full potential for later-life neurobehavioral effects that result from early-life low level exposure to dioxin-like PCBs is not well understood. The objective of this study was to determine the effects of developmental exposure to low levels of dioxin-like PCBs on early-and later-life behavioral phenotypes using zebrafish as a model system. We exposed zebrafish embryos to either vehicle (DMSO) or low concentrations of PCB126 (0.3, 0.6, 1.2 nM) for 20 hours (4–24 hours post fertilization), and then reared them to adulthood in clean water. Locomotor activity was tested at two larval stages (7 and 14 days post fertilization). Adult fish were tested for anxiety-related behavior using the novel tank and shoaling assays. Adult behavioral assays were repeated several times on the same group of fish and effects on intra-and inter-trial habituation were determined. While there was no effect of PCB126 on larval locomotor activity in response to changes in light conditions, developmental exposure to PCB126 resulted in impaired short-and long-term habituation to a novel environment in adult zebrafish. Cyp1a induction was measured as an indicator for AHR activation. Despite high induction at early stages, cyp1a expression was not induced in the brains of developmentally exposed adult fish that showed altered behavior, suggesting that AHR was not activated at this stage. Our results demonstrate the effectiveness of the zebrafish model in detecting subtle and delayed behavioral effects resulting from developmental exposure to an environmental contaminant. PMID:26616910

  16. Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.

    PubMed

    Moortgat, Stephanie; Verellen-Dumoulin, Christine; Maystadt, Isabelle; Parmentier, Benoit; Grisart, Bernard; Hennecker, Jean-Luc; Destree, Anne

    2011-01-01

    Interstitial deletions of the long arm of chromosome 3 are rare and detailed genotype-phenotype correlations are not well established. We report on the clinical, cytogenetic and molecular findings of a 5-year-old patient with a de novo interstitial deletion from 3q25.1 to 3q25.32. Clinical features include relative microcephaly, developmental delay and facial dysmorphism with a coarse face, ptosis, synophrys, epicanthic folds, broad nasal bridge, long philtrum, large mouth with full lips, dysplastic and low-set ears. Revealed by conventional banding techniques, the deleted region of 8.9 Mb was confirmed by fluorescent in situ hybridization (FISH) analyses and array comparative genomic hybridization (array-CGH). To our knowledge, this is the smallest interstitial deletion reported in the 3q25 region. The phenotype of our patient is compared with the 10 previously reported cases implicating the 3q25 region.

  17. 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

    PubMed

    Sismani, Carolina; Anastasiadou, Violetta; Kousoulidou, Ludmila; Parkel, Sven; Koumbaris, George; Zilina, Olga; Bashiardes, Stavros; Spanou, Elena; Kurg, Ants; Patsalis, Philippos C

    2011-01-01

    We report on a family with syndromic X-linked mental retardation (XLMR) caused by an Xp22.2-22.13 duplication. This family consists of a carrier mother and daughter and four affected sons, presenting with mental retardation, developmental delay, cardiovascular problems and mild dysmorphic facial features. Female carriers have normal intelligence and some common clinical features, as well as different clinical abnormalities. Cytogenetic analysis of the mother showed an Xp22.2 duplication which was passed to all her offspring. Fluorescence In Situ Hybridization (FISH) using whole chromosome paint and Bacterial Artificial Chromosome (BAC) clones covering Xp22.12-Xp22.3 region, confirmed the X chromosome origin and the size of the duplication. Two different targeted microarray methodologies were used for breakpoint confirmation, resulting in the localization of the duplication to approximately 9.75-18.98 Mb. Detailed description of such rare duplications provides valuable data for the investigation of genetic disease etiology.

  18. Functional Analysis Outcomes and Comparison of Direct Observations and Informant Rating Scales in the Assessment of Severe Behavior Problems of Infants and Toddlers At-Risk for Developmental Delays.

    PubMed

    Schroeder, Stephen R; Richman, David M; Abby, Layla; Courtemanche, Andrea B; Oyama-Ganiko, Rosa

    2014-06-01

    Severe problem behaviors, like aggression, self-injury, and repetitive behaviors, in people with intellectual and developmental disabilities often appear during early development and may persist without early intervention. The frequencies of self-injurious behavior, aggression, tantrums, property destruction and stereotyped behavior among 17 infants and toddlers at risk for developmental delays and severe behavior problems were assessed using two methods: 1) direct observation of responses during 10 s partial interval recording during analogue functional analysis and 2) the Behavior Problem Inventory-01 (BPI-01; Rojahn et al, 2001), an informant rating scale. Analogue functional analysis results suggested that the most common function for problem behavior was automatic reinforcement, followed by negative reinforcement in the form of escape from demands. Agreement across the two types of measurement systems as to occurrence of the behaviors reported on the BPI-01 and direct observations during analogue functional analyses was greater than 75% across aggression, self-injury, and stereotyped behavior. Agreement at a more molecular level of the ranking of the most commonly occurring specific behaviors was considerably lower. Results are discussed in terms of future research on identifying conditions that set the occasion for high levels of agreement between indirect and direct measurement systems for severe behavior problems.

  19. Quantifying resilience

    USGS Publications Warehouse

    Allen, Craig R.; Angeler, David G.

    2016-01-01

    Several frameworks to operationalize resilience have been proposed. A decade ago, a special feature focused on quantifying resilience was published in the journal Ecosystems (Carpenter, Westley & Turner 2005). The approach there was towards identifying surrogates of resilience, but few of the papers proposed quantifiable metrics. Consequently, many ecological resilience frameworks remain vague and difficult to quantify, a problem that this special feature aims to address. However, considerable progress has been made during the last decade (e.g. Pope, Allen & Angeler 2014). Although some argue that resilience is best kept as an unquantifiable, vague concept (Quinlan et al. 2016), to be useful for managers, there must be concrete guidance regarding how and what to manage and how to measure success (Garmestani, Allen & Benson 2013; Spears et al. 2015). Ideas such as ‘resilience thinking’ have utility in helping stakeholders conceptualize their systems, but provide little guidance on how to make resilience useful for ecosystem management, other than suggesting an ambiguous, Goldilocks approach of being just right (e.g. diverse, but not too diverse; connected, but not too connected). Here, we clarify some prominent resilience terms and concepts, introduce and synthesize the papers in this special feature on quantifying resilience and identify core unanswered questions related to resilience.

  20. The relationship between mental retardation and developmental delays in children and the levels of arsenic, mercury and lead in soil samples taken near their mother's residence during pregnancy

    PubMed Central

    Liu, Yuan; McDermott, Suzanne; Lawson, Andrew; Aelion, C. Marjorie

    2010-01-01

    This study was designed to evaluate the association between lead, mercury, and arsenic in the soil near maternal residences during pregnancy and mental retardation or developmental disability (MR/DD) in children. The study was conducted using 6,048 mothers who did not move throughout their pregnancies and lived within six strips of land in South Carolina and were insured by Medicaid between January 1, 1997 and December 31, 2002. The mother child pairs were then followed until June 1, 2008, through their Medicaid reimbursement files, to identify children diagnosed with MR/DD. The soil was sampled for mercury (Hg), lead (Pb), and As based on a uniform grid, and the soil concentrations were Kriged to estimate chemical concentration at individual locations. We identified a significant relationship between MR/DD and As, and the form of the relationship was nonlinear, after controlling for other known risk factors. PMID:20045663

  1. Relative leg length as a biological marker to trace the developmental history of individuals and populations: growth delay and increased body fat.

    PubMed

    Frisancho, A Roberto

    2007-01-01

    The purpose of this study was to determine whether differences in leg length index are related to differences in body fat. The study included a cross-sectional sample of 21,021 subjects ranging in age from 2 to 90 years who had anthropometric information and poverty income ratio that participated in the third National Health and Nutrition Survey (NHANES III) of the United Stated conducted during 1988-1994. Of the total 21,021 participants, 7,810 were non-Hispanic white (3,900 men and 3,910, women), 8,134 were African-American black (3,127 men and 2,889 women) and 6,237 were Mexican-American (3,221 and 3,016 women). In both males and females and in all three ethnic groups and across socio-economic status (measured by the poverty income ratio) a low leg length index is associated with increased body fat (measured by skinfold thickness) when compared with those with high leg length index. It is postulated that a low leg length index reflects the consequence of negative environmental conditions leading to growth delay. Previous studies indicate that individuals exposed both during development and adulthood to under-nutrition respond through inter-related physiological mechanisms oriented at improving energetic efficiency and low oxidation of fat. These interrelated compensatory physiological adjustments work together to promote fat storage among growth delayed individuals or populations.

  2. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

    PubMed

    Popp, Susanne; Schulze, Birgit; Granzow, Martin; Keller, Monika; Holtgreve-Grez, Heidi; Schoell, Brigitte; Brough, Michaela; Hager, Hans-Dieter; Tariverdian, Gholamali; Brown, Jill; Kearney, Lyndal; Jauch, Anna

    2002-07-01

    Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis.

  3. Developmental Toxicology##

    EPA Science Inventory

    Developmental toxicology encompasses the study of developmental exposures, pharmacokinetics, mechanisms, pathogenesis, and outcomes potentially leading to adverse health effects. Manifestations of developmental toxicity include structural malformations, growth retardation, functi...

  4. Developmental Milestones in Toddlers with Atypical Development

    ERIC Educational Resources Information Center

    Horovitz, Max; Matson, Johnny L.

    2011-01-01

    The attainment of developmental milestones was examined and compared in 162 infants and toddlers with developmental disabilities, including Down Syndrome (n = 26), Cerebral Palsy (n = 19), Global Developmental Delay (n = 22), Premature birth (n = 66), and Seizure Disorder (n = 29). Toddlers in the Seizures Disorder group began crawling at a…

  5. Quantifying entanglement

    NASA Astrophysics Data System (ADS)

    Thapliyal, Ashish Vachaspati

    Entanglement is an essential element of quantum mechanics. The aim of this work is to explore various properties of entanglement from the viewpoints of both physics and information science, thus providing a unique picture of entanglement from an interdisciplinary point of view. The focus of this work is on quantifying entanglement as a resource. We start with bipartite states, proposing a new measure of bipartite entanglement called entanglement of assistance, showing that bound entangled states of rank two cannot exist, exploring the number of members required in the ensemble achieving the entanglement of formation and the possibility of bound entangled states that are negative under partial transposition (NPT bound entangled states). For multipartite states we introduce the notions of reducibilities and equivalences under entanglement non-increasing operations and we study the relations between various reducibilities and equivalences such as exact and asymptotic LOCC, asymptotic LOCCq, cLOCC, LOc, etc. We use this new language to attempt to quantify entanglement for multiple parties. We introduce the idea of entanglement span and minimal entanglement generating set and entanglement coefficients associated with it which are the entanglement measures, thus proposing a multicomponent measure of entanglement for three or more parties. We show that the class of Schmidt decomposable states have only GHZM or Cat-like entanglement. Further we introduce the class of multiseparable states for quantification of their entanglement and prove that they are equivalent to the Schmidt decomposable states, and thus have only Cat-like entanglement. We further explore the conditions under which LOCO equivalences are possible for multipartite isentropic states. We define Cat-distillability, EPRB-distillability and distillability for multipartite mixed states and show that distillability implies EPRB-distillability. Further we show that all non-factorizable pure states are Cat

  6. Delayed ejaculation

    MedlinePlus

    Ejaculatory incompetence; Sex - delayed ejaculation; Retarded ejaculation; Anejaculation; Infertility - delayed ejaculation ... include: Religious background that makes the person view sex as sinful Lack of attraction for a partner ...

  7. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    PubMed Central

    Hardies, Katia; May, Patrick; Djémié, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer; Afawi, Zaid; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Depienne, Christel; De Kovel, Carolien G.F.; Dimova, Petia; Guerrero-López, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes; Lerche, Holger; Marini, Carla; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose M.; Møller, Rikke S.; Stephani, Ulrich; Striano, Pasquale; Talvik, Tiina; Von Spiczak, Sarah; Weber, Yvonne; Zara, Federico

    2015-01-01

    We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.Gln46Profs*9 and p.Arg97*) was further investigated in a patient's fibroblast cell line. We show that the premature stop mutations in AP4S1 result in a reduction of all AP-4 subunits and loss of AP-4 complex assembly. Recruitment of the AP-4 accessory protein tepsin, to the membrane was also abolished. In retrospect, the clinical phenotype in the family is consistent with previous reports of the AP-4 deficiency syndrome. Our study reports the second family with mutations in AP4S1 and describes the first two patients with loss of AP4S1 and seizures. We further discuss seizure phenotypes in reported patients, highlighting that seizures are part of the clinical manifestation of the AP-4 deficiency syndrome. We also hypothesize that endosomal trafficking is a common theme between heritable spastic paraplegia and some inherited epilepsies. PMID:25552650

  8. Developmental Screening

    MedlinePlus

    Learn More about Your Child’s Development: Developmental Monitoring and Screening Taking a first step, waving “bye-bye,” and pointing to something interesting are all developmental milestones, ...

  9. Developmental Toxicity

    EPA Science Inventory

    This chapter provides an overview the developmental toxicity resulting from exposure to perfluorinated alkyl acids (PFAAs). The majority of studies of PFAA-induced developmental toxicity have examined effects of perfluorooctane sulfonate (PFOS) or perfluorooctanoic acid (PFOA) a...

  10. Viva Delay.

    PubMed

    Yahaghi, Hossein; Sorooshian, Shahryar; Yahaghi, Javad

    2016-06-28

    The time delay between submission of a thesis and Viva Voce is intolerable for students. This letter tries to draw the readers' attention to the effect of choosing the right examiner, in order to reduce the Viva Voce delay.

  11. An acpXL Mutant of Rhizobium leguminosarum bv. phaseoli Lacks 27-Hydroxyoctacosanoic Acid in Its Lipid A and Is Developmentally Delayed during Symbiotic Infection of the Determinate Nodulating Host Plant Phaseolus vulgaris ▿

    PubMed Central

    Brown, Dusty B.; Huang, Yu-Chu; Kannenberg, Elmar L.; Sherrier, D. Janine; Carlson, Russell W.

    2011-01-01

    Rhizobium leguminosarum is a Gram-negative bacterium that forms nitrogen-fixing symbioses with compatible leguminous plants via intracellular invasion and establishes a persistent infection within host membrane-derived subcellular compartments. Notably, an unusual very-long-chain fatty acid (VLCFA) is found in the lipid A of R. leguminosarum as well as in the lipid A of the medically relevant pathogens Brucella abortus, Brucella melitensis, Bartonella henselae, and Legionella pneumophila, which are also able to persist within intracellular host-derived membranes. These bacterial symbionts and pathogens each contain a homologous gene region necessary for the synthesis and transfer of the VLCFA to the lipid A. Within this region lies a gene that encodes the specialized acyl carrier protein AcpXL, on which the VLCFA is built. This study describes the biochemical and infection phenotypes of an acpXL mutant which lacks the VLCFA. The mutation was created in R. leguminosarum bv. phaseoli strain 8002, which forms symbiosis with Phaseolus vulgaris, a determinate nodulating legume. Structural analysis using gas chromatography and mass spectrometry revealed that the mutant lipid A lacked the VLCFA. Compared to the parent strain, the mutant was more sensitive to the detergents deoxycholate and dodecyl sulfate and the antimicrobial peptide polymyxin B, suggesting a compromise to membrane stability. In addition, the mutant was more sensitive to higher salt concentrations. Passage through the plant restored salt tolerance. Electron microscopic examination showed that the mutant was developmentally delayed during symbiotic infection of the host plant Phaseolus vulgaris and produced abnormal symbiosome structures. PMID:21764936

  12. Developmental Delay. NICHCY Disability Fact Sheet #9

    ERIC Educational Resources Information Center

    National Dissemination Center for Children with Disabilities, 2012

    2012-01-01

    Think of all the skills that children have to learn when they come into the world: smiling, turning over, responding to people, communicating, eating solid food, crawling, standing, and on and on. These skills are expected to emerge naturally over time and it is known more or less when they should. This timetable for skills to emerge is commonly…

  13. [Delayed puberty].

    PubMed

    Edouard, T; Tauber, M

    2010-02-01

    Delayed puberty is defined in girls by the absence of breast development beyond 13 years old and in boys by the absence of testicular enlargement (< 4 ml) beyond 14 years old. Simple investigations lead to the diagnosis of central or peripheral hypogonadism and constitutional delay of puberty. In girls, delayed puberty is rare and often organic, and then Turner syndrome should be systematically suspected. In boys, delayed puberty is often constitutional and functional. Treatment is etiologic when possible, hormonal replacement therapy (oestrogen in girls and testosterone in boys) and psychological management.

  14. Delayed growth

    MedlinePlus

    ... ready-to-feed formula. When to Contact a Medical Professional Contact your health care provider if you are concerned about your child's growth. Medical evaluations are important even if you think developmental ...

  15. The Evidence behind Developmental Screening Instruments

    ERIC Educational Resources Information Center

    Macy, Marisa

    2012-01-01

    This research synthesis is a review of the literature on developmental screening measures used to identify young children with delays. Research on 14 commonly used tools to screen infants, toddlers, and preschoolers was examined. Findings may assist users and consumers in identifying developmental screening measures that have a body of evidence.

  16. Developmental Evaluation.

    ERIC Educational Resources Information Center

    Patton, Michael Quinn

    1994-01-01

    Developmental evaluation is proposed as a term to describe certain long-term partnering relationships with clients who are, themselves, engaged in ongoing program development. Rather than a model, developmental evaluation is a relationship founded on a shared purpose and is a way of being useful in innovative settings. (SLD)

  17. Developmental Care Rounds: An Interdisciplinary Approach to Support Developmentally Appropriate Care of Infants Born with Complex Congenital Heart Disease.

    PubMed

    Lisanti, Amy Jo; Cribben, Jeanne; Connock, Erin McManus; Lessen, Rachelle; Medoff-Cooper, Barbara

    2016-03-01

    Newborn infants with complex congenital heart disease are at risk for developmental delay. Developmental care practices benefit prematurely born infants in neonatal intensive care units. Cardiac intensive care units until recently had not integrated developmental care practices into their care framework. Interdisciplinary developmental care rounds in our center have helped in the promotion of developmentally supportive care for infants before and after cardiac surgery. This article discusses basic principles of developmental care, the role of each member of the interdisciplinary team on rounds, common developmental care practices integrated into care from rounds, and impacts to patients, families, and staff.

  18. Developmental effects of dioxins.

    PubMed Central

    Birnbaum, L S

    1995-01-01

    The potent developmental toxicity of dioxin in multiple species has been known for a number of years. However, recent studies have indicated that dioxin also induces functional developmental defects, many of which are delayed. Subtle structural deficits, not detectable at birth, have also been described in multiple species and in both sexes. Certain defects have been reported not only in animals but also in children prenatally exposed to complex mixtures containing dioxinlike compounds. None of the effects can be attributed to modulation of any one endocrine system. For example, dioxin does not bind to the estrogen receptor, but it can cause effects that are both estrogenic and antiestrogenic. However, viewing dioxin and related compounds as endocrine disruptors that may alter multiple pathways sheds some light on the complexities of this potent class of growth dysregulators. PMID:8593882

  19. Modeling Mechanisms of Persisting and Resolving Delay in Language Development

    ERIC Educational Resources Information Center

    Thomas, Michael S. C.; Knowland, V. C. P.

    2014-01-01

    Purpose: In this study, the authors used neural network modeling to investigate the possible mechanistic basis of developmental language delay and to test the viability of the hypothesis that persisting delay and resolving delay lie on a mechanistic continuum with normal development. Method: The authors used a population modeling approach to study…

  20. Early identification of motor delay

    PubMed Central

    Harris, Susan R.

    2016-01-01

    Objective To describe the Harris Infant Neuromotor Test (HINT), an infant neuromotor test using Canadian norms published in 2010 that could be used to screen for motor delay during the first year of life. Quality of evidence Extensive research has been published on the intrarater, interrater, and test-retest reliability and the content, concurrent, predictive, and known-groups validity of the HINT, as well as on the sensitivity, specificity, and positive and negative predictive values of parental concerns, as assessed by the HINT. Most evidence is level II. Main message Diagnosing motor delays during the first year of life is important because these often indicate more generalized developmental delays or specific disabilities, such as cerebral palsy. Parental concerns about their children’s motor development are strongly predictive of subsequent diagnoses involving motor delay. Conclusion Only through early identification of developmental motor delays, initially with screening tools such as the HINT, is it possible to provide referrals for early intervention that could benefit both the infant and the family. PMID:27521388

  1. Delayed puberty.

    PubMed

    Traggiai, Cristina; Stanhope, Richard

    2002-03-01

    Puberty is the acquisition of secondary sexual characteristics associated with a growth spurt and resulting in the attainment of reproductive function. Delayed puberty is diagnosed when there is no breast development by 13.4 years of age in a girl and no testicular enlargement by 14.0 years in a boy. The aetiologies are: (i) pubertal delay, either with constitutional delay of growth and puberty or secondary to chronic illness, and (ii) pubertal failure, with hypogonadotrophic (defect in the hypothalamo-pituitary region) or hypergonadotrophic (secondary to gonadal failure) hypogonadism, or both (secondary to radio/chemotherapy). The investigation includes: history, auxological data and pubertal development examination. Boys usually require treatment and, if they do not respond, investigation. In girls it is appropriate to measure the thyroid function and karyotype first and, if necessary, to offer treatment. If they present with dysmorphic features, or positive familial history, an assessment is required before treatment.

  2. Intron Delays and Transcriptional Timing during Development

    PubMed Central

    Swinburne, Ian A.; Silver, Pamela A.

    2010-01-01

    The time taken to transcribe most metazoan genes is significant because of the substantial length of introns. Developmentally regulated gene networks, where timing and dynamic patterns of expression are critical, may be particularly sensitive to intron delays. We revisit and comment on a perspective last presented by Thummel 16 years ago: transcriptional delays may contribute to timing mechanisms during development. We discuss the presence of intron delays in genetic networks. We consider how delays can impact particular moments during development, which mechanistic attributes of transcription can influence them, how they can be modeled, and how they can be studied using recent technological advances as well as classical genetics. PMID:18331713

  3. Developmental Dependencies.

    ERIC Educational Resources Information Center

    Hochhauser, Mark

    Researchers have long focused upon the problems of student/adolescent drug use; however, such a limited perspective may actually provide inaccurate information as to the actual nature and extent of total drug use. It may be more appropriate to emphasize a lifespan developmental perspective regarding drug abuse behaviors, insofar as drug use must…

  4. Developmental dyscalculia.

    PubMed

    Shalev, Ruth S

    2004-10-01

    Developmental dyscalculia is a specific learning disability affecting the normal acquisition of arithmetic skills. Genetic, neurobiologic, and epidemiologic evidence indicates that dyscalculia, like other learning disabilities, is a brain-based disorder. However, poor teaching and environmental deprivation have also been implicated in its etiology. Because the neural network of both hemispheres comprises the substrate of normal arithmetic skills, dyscalculia can result from dysfunction of either hemisphere, although the left parietotemporal area is of particular significance. The prevalence of developmental dyscalculia is 5 to 6% in the school-aged population and is as common in girls as in boys. Dyscalculia can occur as a consequence of prematurity and low birthweight and is frequently encountered in a variety of neurologic disorders, such as attention-deficit hyperactivity disorder (ADHD), developmental language disorder, epilepsy, and fragile X syndrome. Developmental dyscalculia has proven to be a persisting learning disability, at least for the short term, in about half of affected preteen pupils. Educational interventions for dyscalculia range from rote learning of arithmetic facts to developing strategies for solving arithmetic exercises. The long-term prognosis of dyscalculia and the role of remediation in its outcome are yet to be determined.

  5. Delayed puberty.

    PubMed

    Reiter, Edward O; Lee, Peter A

    2002-02-01

    Normal puberty is a time of life and a process of development that results in full adult maturity of growth, sexual development, and psychosocial achievement. Delayed puberty describes the clinical condition in which the pubertal events start late (usually > +2.5 SD later than the mean) or are attenuated in progression. The differential diagnosis includes syndromes of low gonadotropin production, usually constitutional delay of growth and maturation associated with chronic disease, but also an array of gene-mediated disorders, and syndromes of primary gonadal dysfunction with hypergonadotropic hypogonadism, including Turner and Klinefelter syndromes, and a group of acquired and genetic abnormalities. Diagnostic assessment and varied therapeutic modalities are discussed. The issues of androgen or estrogen therapy are important to assess, and growth hormone treatment remains a difficult dilemma.

  6. Risk Factors for Abnormal Developmental Trajectories in Young Children with Congenital Heart Disease

    PubMed Central

    Mussatto, Kathleen A.; Hoffmann, Raymond; Hoffman, George; Tweddell, James S.; Bear, Laurel; Cao, Yumei; Tanem, Jena; Brosig, Cheryl

    2015-01-01

    Background Children with congenital heart disease (CHD) are at risk for developmental delay (DD). This study sought to identify early risk factors for abnormal developmental trajectories in children with CHD. Methods and Results Children with CHD at high risk for DD, without known genetic abnormality, and with ≥3 assessments using the Bayley Scales of Infant Development-III (BSID-III) were studied. Logistic regression was used to assess the impact of patient and clinical factors on cognitive, language, and motor score trajectories; classified as: “Average or Improved” if all scores were ≥ 85 (< 1SD below mean) or increased to ≥ 85 and never decreased; or “Abnormal” if all scores were < 85, fell to < 85 and never improved, or fluctuated above and below 85. Data on 131 children with 527 BSID-III assessments were analyzed. Subject age was 5.5–37.4 months. Overall, 56% had cognitive, language, and motor development in the average range. Delays occurred in single domains in 23%. Multiple domains were delayed in 21%. More cardiac surgeries, longer hospital stay, poorer linear growth, and tube feeding were associated with worse outcomes in all domains (p<0.05). In the multivariable model, need for tube feeding was a risk factor for having an abnormal developmental trajectory (OR = 5.1–7.9). Minority race and lack of private insurance had significant relationships with individual domains. Conclusions Longitudinal developmental surveillance identified early factors that can help quantify risk of DD over time. Strategies to improve modifiable factors and early therapeutic intervention can be targeted to children at highest risk. PMID:26304667

  7. Developmental milestones in toddlers with atypical development.

    PubMed

    Horovitz, Max; Matson, Johnny L

    2011-01-01

    The attainment of developmental milestones was examined and compared in 162 infants and toddlers with developmental disabilities, including Down Syndrome (n = 26), Cerebral Palsy (n = 19), Global Developmental Delay (n = 22), Premature birth (n = 66), and Seizure Disorder (n = 29). Toddlers in the Seizures Disorder group began crawling at a significantly younger age than toddlers in the Down Syndrome and Cerebral Palsy groups. Additionally, toddlers in the Seizure Disorder group began walking at a younger age than children in the Down Syndrome, Cerebral Palsy, and Global Developmental Delay groups, while toddlers in the Prematurity group began walking at a younger age than children in the Down Syndrome group. No between group differences were found with respect to age at which first words were spoken. Results and their implications are discussed.

  8. Diesel Emissions Quantifier (DEQ)

    EPA Pesticide Factsheets

    .The Diesel Emissions Quantifier (Quantifier) is an interactive tool to estimate emission reductions and cost effectiveness. Publications EPA-420-F-13-008a (420f13008a), EPA-420-B-10-035 (420b10023), EPA-420-B-10-034 (420b10034)

  9. Developmental dyscalculia.

    PubMed

    Price, Gavin R; Ansari, Daniel

    2013-01-01

    Developmental dyscalculia (DD) is a learning disorder affecting the acquisition of school level arithmetic skills present in approximately 3-6% of the population. At the behavioral level DD is characterized by poor retrieval of arithmetic facts from memory, the use of immature calculation procedures and counting strategies, and the atypical representation and processing of numerical magnitude. At the neural level emerging evidence suggests DD is associated with atypical structure and function in brain regions associated with the representation of numerical magnitude. The current state of knowledge points to a core deficit in numerical magnitude representation in DD, but further work is required to elucidate causal mechanisms underlying the disorder.

  10. The Daily Dozen: Strategies for Enhancing Social Communication of Infants with Language Delays

    ERIC Educational Resources Information Center

    Stockall, Nancy; Dennis, Lindsay R.

    2012-01-01

    Approximately 228,000 children from birth to age 3 are affected by a disability. Developmental challenges may include severe, chronic disabilities that can begin at birth and last a lifetime. Delayed speech and language are the most common types of developmental delays among infants and toddlers. Many of these children are at risk for later…

  11. Early Childhood Developmental Screenings: Predictors of Screening Referral Completion

    ERIC Educational Resources Information Center

    Jennings, Danielle J.

    2012-01-01

    Developmental screening programs identify young children with delayed skill growth or challenging behaviors and refer them to community agencies for evaluation or other services. This research studied the predictive impact of developmental screening results and child and family characteristics on the completion of these referrals for evaluation. A…

  12. Engaging Pediatricians in Developmental Screening: The Effectiveness of Academic Detailing

    ERIC Educational Resources Information Center

    Honigfeld, Lisa; Chandhok, Laura; Spiegelman, Kenneth

    2012-01-01

    Use of formal developmental screening tools in the pediatric medical home improves early identification of children with developmental delays and disorders, including Autism Spectrum Disorders. A pilot study evaluated the impact of an academic detailing module in which trainers visited 43 pediatric primary care practices to provide education about…

  13. [Developmental dyslexia].

    PubMed

    Galaburda, A M; Cestnick, L

    2003-02-01

    Developmental dyslexia makes up an important proportion of the known learning disorders. Until the late 1970s most research on dyslexia was carried out by educators and educational psychologists, but soon after the publication of some dyslexic cases with focal disorders of neuronal migration to the cerebral cortex, interest in the neurobiological and neurocognitive underpinnings of dyslexia grew, especially in Europe and North America. There are at least two types of developmental dyslexia--phonological and surface. Surface dyslexia refers to a disorder in which the difficulty lies in reading irregular words, whereas phonological dyslexia is characterized by difficulty with pseudowords. Phonological dyslexia is the more common of the two types. Surface dyslexia does not present a major problem in a language such as Spanish, where the number of irregular words is indeed very small. Still, in languages such as English, where irregular words are common, the phonological type of developmental dyslexia is much more common. Phonologic dyslexics have problems with phonological awareness, that is, the conscious knowledge and manipulation of speech sounds, which is the most proximate explanation for their difficulty in reading pseudowords. Many, but not all, phonologic dyslexics also have problems processing rapidly changing sounds, even if not linguistic, and some slow sounds, too. The same group tends to have visual problems, especially involving the so-called magnocellular pathway of the visual system, which, among others, has the role of analyzing movement. Accompanying these perceptual and cognitive deficits, phonologic dyslexics also show abnormal brain activation to phonological tasks, as shown in functional magnetic resonance studies (figure). In addition, dyslexic brains show focal malformations, ectopias and microgyria, of the cerebral cortex, involving mainly the left perisylvian region and the word form area in the temporo-occipital junction. There are also

  14. UAVs and Control Delays

    DTIC Science & Technology

    2005-09-01

    Transport Delay itI tl2 s2+(tl +t2tI2)s+ 1 Delay Figure 17 A Matlab Simulink model used to compare a simple delayed system , in this case an integrator...23 3 Control of tim e-delay system s...discuss the various sources of delays, leading to an assessment of typical delays to be expected in a few example systems . Sources of delay that will

  15. Developmental Changes in Auditory Temporal Perception.

    ERIC Educational Resources Information Center

    Morrongiello, Barbara A.; And Others

    1984-01-01

    Infants, preschoolers, and adults were tested to determine the shortest time interval at which they would respond to the precedence effect, an auditory phenomenon produced by presenting the same sound through two loudspeakers with the input to one loudspeaker delayed in relation to the other. Results revealed developmental differences in threshold…

  16. Sonoma Developmental Curriculum: Instructional Programs. Volume II.

    ERIC Educational Resources Information Center

    Adams, Patrick, Ed.; And Others

    The guide presents instructional materials for teaching developmentally delayed children from birth to 6 years old. The following five instructional areas are covered (with sample activities in parentheses): gross motor (demonstrates a tonic-neck reflex, demonstrates ability to bear almost full weight, and crawls backward down three steps); fine…

  17. Chronic Disease and Perceived Developmental Progression in Adolescence.

    ERIC Educational Resources Information Center

    Seiffge-Krenke, Inge

    1998-01-01

    Examined whether chronic illness causes delays in adolescents' perceived developmental status, using annually-completed questionnaires from insulin-dependent and healthy adolescents. Found that, in first year of study, diabetic adolescents reported delays in physical maturity and an independent lifestyle compared with healthy peers. Overall…

  18. Quantifying Faculty Workloads.

    ERIC Educational Resources Information Center

    Archer, J. Andrew

    Teaching load depends on many variables, however most colleges define it strictly in terms of contact or credit hours. The failure to give weight to variables such as number of preparations, number of students served, committee and other noninstructional assignments is usually due to the lack of a formula that will quantify the effects of these…

  19. Catalysis: Quantifying charge transfer

    NASA Astrophysics Data System (ADS)

    James, Trevor E.; Campbell, Charles T.

    2016-02-01

    Improving the design of catalytic materials for clean energy production requires a better understanding of their electronic properties, which remains experimentally challenging. Researchers now quantify the number of electrons transferred from metal nanoparticles to an oxide support as a function of particle size.

  20. Delayed childbearing.

    PubMed

    Francis, H H

    1985-06-01

    In many Western nations, including England and Wales, Sweden, and the US, there is a current trend towards delayed childbearing because of women's pursuit of a career, later marriage, a longer interval between marriage and the 1st birth, and the increasing number of divorcees having children in a 2nd marriage. Wives of men in social classes I and II in England and Wales are, on average, having their 1st child at 27.9 years, 1.6 years later than in 1973, and in social classes IV and V, 1.0 years later than in 1973, at a mean age of 23.7 years. Consequently, the total period fertility rate for British women aged 30-34 years, 35-39 years, and 40 and over increased by 4%, 2%, and 4%, respectively, between 1982-83, in contrast to reductions of 2% and 3%, respectively, in the 15-19 year and 20-24 year age groups, with the 25-29-year-olds remaining static. The average maternal mortality for all parties in England and Wales during 1976-78 was 106/million for adolescents, 70.4/million for 20-24 year-olds, and 1162/million for those aged 40 years and older. The specific obstetric and allied conditions which increase with age are the hypertensive diseases of pregnancy, hemorrhage, pulmonary embolism, abortion, cardiac disease, caesarean section, ruptured uterus, and amniotic fluid embolism. The Swedish Medical Birth Registry of all live births and perinatal deaths since 1973 has shown that the risk of late fetal death is significantly greater in women aged 30-39 years than in those of the same parity and gravidity aged 20-24 years. The risk of giving birth to low birth weight babies preterm and at term and of premature labor are similarly increased. The early neonatal death rate also was increased for primigravidas and nulliparas in the 30-39 year age group but not in parous women. This is, in part, due to the rise in incidence of fetal abnormalities with advancing maternal age because of chromosomal and nonchromosomal anomalies. These also appear to be the cause of the

  1. Quantifiers more or less quantify online: ERP evidence for partial incremental interpretation

    PubMed Central

    Urbach, Thomas P.; Kutas, Marta

    2010-01-01

    Event-related brain potentials were recorded during RSVP reading to test the hypothesis that quantifier expressions are incrementally interpreted fully and immediately. In sentences tapping general knowledge (Farmers grow crops/worms as their primary source of income), Experiment 1 found larger N400s for atypical (worms) than typical objects (crops). Experiment 2 crossed object typicality with non-logical subject-noun phrase quantifiers (most, few). Off-line plausibility ratings exhibited the crossover interaction predicted by full quantifier interpretation: Most farmers grow crops and Few farmers grow worms were rated more plausible than Most farmers grow worms and Few farmers grow crops. Object N400s, although modulated in the expected direction, did not reverse. Experiment 3 replicated these findings with adverbial quantifiers (Farmers often/rarely grow crops/worms). Interpretation of quantifier expressions thus is neither fully immediate nor fully delayed. Furthermore, object atypicality was associated with a frontal slow positivity in few-type/rarely quantifier contexts, suggesting systematic processing differences among quantifier types. PMID:20640044

  2. Psychosocial developmental milestones in men with classic galactosemia.

    PubMed

    Gubbels, Cynthia Sophia; Maurice-Stam, Heleen; Berry, Gerard Thomas; Bosch, Annet Maria; Waisbren, Susan; Rubio-Gozalbo, Maria Estela; Grootenhuis, Martha Alexandra

    2011-04-01

    Patients with classic galactosemia suffer from several long term effects of their disease. Research in a group of mainly female patients has shown that these patients may also have a developmental delay with regard to their social aptitude. To study if male galactosemia patients achieve psychosocial developmental milestones more slowly than male peers from the general Dutch population, we assessed their development with the Course of Life Questionnaire (CoLQ). A total of 18 male galactosemia patients participated in this study (response rate 69%): 11 Dutch patients and seven American patients. We found severe delays in the social and psychosexual scales of this questionnaire, but not on the autonomy axis. These results are comparable to an earlier study with a limited number of male patients. The observed delays could be secondary to less developed social skills, cognitive dysfunction, or disrupted language development. We strongly recommend screening of galactosemia patients for developmental delays, to ensure early intervention through social skills training.

  3. Quantifying Ubiquitin Signaling

    PubMed Central

    Ordureau, Alban; Münch, Christian; Harper, J. Wade

    2015-01-01

    Ubiquitin (UB)-driven signaling systems permeate biology, and are often integrated with other types of post-translational modifications (PTMs), most notably phosphorylation. Flux through such pathways is typically dictated by the fractional stoichiometry of distinct regulatory modifications and protein assemblies as well as the spatial organization of pathway components. Yet, we rarely understand the dynamics and stoichiometry of rate-limiting intermediates along a reaction trajectory. Here, we review how quantitative proteomic tools and enrichment strategies are being used to quantify UB-dependent signaling systems, and to integrate UB signaling with regulatory phosphorylation events. A key regulatory feature of ubiquitylation is that the identity of UB chain linkage types can control downstream processes. We also describe how proteomic and enzymological tools can be used to identify and quantify UB chain synthesis and linkage preferences. The emergence of sophisticated quantitative proteomic approaches will set a new standard for elucidating biochemical mechanisms of UB-driven signaling systems. PMID:26000850

  4. How to quantify ripple

    NASA Astrophysics Data System (ADS)

    Geib, H.; Kuehne, C.; Morgenbrod, E.

    In the present attempt to render the small area errors in large telescope mirror manufacture, known as 'ripple', numerically quantifiable, two-dimensional regularity is omitted, yielding greater clarity and comparability of results. In the measurement of the interference fringe, the central fringe is photometered in equidistant steps. Application of Fourier analysis to the average value obtained is followed by a power spectrum calculation. The test method is evaluated through the numerical examination of a ripple structure of known size and period length.

  5. Developmental milestones among Aboriginal children in Canada

    PubMed Central

    Findlay, Leanne; Kohen, Dafna; Miller, Anton

    2014-01-01

    BACKGROUND: Windows of achievement provide age ranges for the attainment of early developmental skills. Group-specific research is warranted given that development may be influenced by social or cultural factors. OBJECTIVES: To examine developmental milestones for Inuit, Métis and off-reserve First Nation children in Canada, based on developmental domains collected from the 2006 Aboriginal Children’s Survey. Sociodemographic and health predictors of risk for developmental delay were also examined. RESULTS: The ranges in which children achieve certain developmental milestones are presented. Gross motor and self-help skills were found to be achieved earlier (across the three Aboriginal groups), whereas language skills were achieved slightly later than in Canadian children in general. Furthermore, health factors (eg, low birth weight, chronic health conditions) were associated with late achievement of developmental outcomes even when sociodemographic characteristics were considered. CONCLUSIONS: Findings suggest that the timing of milestone achievement may differ for Aboriginal children, highlighting the importance of establishing culturally specific norms and standards rather than relying on those derived from general populations. This information may be useful for practitioners and parents interested in identifying the age ranges for development, as well as age ranges indicating potential for developmental risk and opportunities for early intervention among Aboriginal children. PMID:24855426

  6. Quantifying concordance in cosmology

    NASA Astrophysics Data System (ADS)

    Seehars, Sebastian; Grandis, Sebastian; Amara, Adam; Refregier, Alexandre

    2016-05-01

    Quantifying the concordance between different cosmological experiments is important for testing the validity of theoretical models and systematics in the observations. In earlier work, we thus proposed the Surprise, a concordance measure derived from the relative entropy between posterior distributions. We revisit the properties of the Surprise and describe how it provides a general, versatile, and robust measure for the agreement between data sets. We also compare it to other measures of concordance that have been proposed for cosmology. As an application, we extend our earlier analysis and use the Surprise to quantify the agreement between WMAP 9, Planck 13, and Planck 15 constraints on the Λ CDM model. Using a principle component analysis in parameter space, we find that the large Surprise between WMAP 9 and Planck 13 (S =17.6 bits, implying a deviation from consistency at 99.8% confidence) is due to a shift along a direction that is dominated by the amplitude of the power spectrum. The Planck 15 constraints deviate from the Planck 13 results (S =56.3 bits), primarily due to a shift in the same direction. The Surprise between WMAP and Planck consequently disappears when moving to Planck 15 (S =-5.1 bits). This means that, unlike Planck 13, Planck 15 is not in tension with WMAP 9. These results illustrate the advantages of the relative entropy and the Surprise for quantifying the disagreement between cosmological experiments and more generally as an information metric for cosmology.

  7. Quantifying uncertainty in state and parameter estimation.

    PubMed

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

    2014-05-01

    Observability of state variables and parameters of a dynamical system from an observed time series is analyzed and quantified by means of the Jacobian matrix of the delay coordinates map. For each state variable and each parameter to be estimated, a measure of uncertainty is introduced depending on the current state and parameter values, which allows us to identify regions in state and parameter space where the specific unknown quantity can(not) be estimated from a given time series. The method is demonstrated using the Ikeda map and the Hindmarsh-Rose model.

  8. Hypothalamic hamartoma in an unusual case with delayed puberty.

    PubMed

    Nakhaeimoghadam, Maryam; Rostami, Parastoo; Zare-Shahabadi, Ameneh; Mehdizadeh, Mehrzad; Rabbani, Ali; Rezaei, Nima

    2013-01-01

    Hypothalamic hamartoma (HH) is a rare intracranial lesion that usually presents with classic triad of central precocious puberty, gelastic epilepsy, and developmental delay. Herein, a 14-year old boy is presented in whom the diagnosis of HH was made by magnetic resonance imaging. While he did not have any complain of precocious puberty, he surprisingly suffered from delay in puberty. The definite diagnosis of HH can only be made by appropriate imaging, in a case with atypical feature of delay in puberty and in the absence of gelastic epilepsy. To our best knowledge, this is the first case of HH who is presented with delay in puberty as of first manifestation.

  9. Quantifying surface normal estimation

    NASA Astrophysics Data System (ADS)

    Reid, Robert B.; Oxley, Mark E.; Eismann, Michael T.; Goda, Matthew E.

    2006-05-01

    An inverse algorithm for surface normal estimation from thermal polarimetric imagery was developed and used to quantify the requirements on a priori information. Building on existing knowledge that calculates the degree of linear polarization (DOLP) and the angle of polarization (AOP) for a given surface normal in a forward model (from an object's characteristics to calculation of the DOLP and AOP), this research quantifies the impact of a priori information with the development of an inverse algorithm to estimate surface normals from thermal polarimetric emissions in long-wave infrared (LWIR). The inverse algorithm assumes a polarized infrared focal plane array capturing LWIR intensity images which are then converted to Stokes vectors. Next, the DOLP and AOP are calculated from the Stokes vectors. Last, the viewing angles, θ v, to the surface normals are estimated assuming perfect material information about the imaged scene. A sensitivity analysis is presented to quantitatively describe the a priori information's impact on the amount of error in the estimation of surface normals, and a bound is determined given perfect information about an object. Simulations explored the impact of surface roughness (σ) and the real component (n) of a dielectric's complex index of refraction across a range of viewing angles (θ v) for a given wavelength of observation.

  10. Using Developmental Trajectories to Understand Developmental Disorders

    ERIC Educational Resources Information Center

    Thomas, Michael S. C.; Annaz, Dagmara; Ansari, Daniel; Scerif, Gaia; Jarrold, Chris; Karmiloff-Smith, Annette

    2009-01-01

    Purpose: In this article, the authors present a tutorial on the use of developmental trajectories for studying language and cognitive impairments in developmental disorders and compare this method with the use of matching. Method: The authors assess the strengths, limitations, and practical implications of each method. The contrast between the…

  11. On quantifying insect movements

    SciTech Connect

    Wiens, J.A.; Crist, T.O. ); Milne, B.T. )

    1993-08-01

    We elaborate on methods described by Turchin, Odendaal Rausher for quantifying insect movement pathways. We note the need to scale measurement resolution to the study insects and the questions being asked, and we discuss the use of surveying instrumentation for recording sequential positions of individuals on pathways. We itemize several measures that may be used to characterize movement pathways and illustrate these by comparisons among several Eleodes beetles occurring in shortgrass steppe. The fractal dimension of pathways may provide insights not available from absolute measures of pathway configuration. Finally, we describe a renormalization procedure that may be used to remove sequential interdependence among locations of moving individuals while preserving the basic attributes of the pathway.

  12. Quantifying knee mechanics during balance training exercises.

    PubMed

    Benson, Lauren C; Almonroeder, Thomas G; O'Connor, Kristian M

    2017-01-01

    Patellofemoral pain (PFP) is common among runners and those recovering from anterior cruciate ligament reconstruction. Training programs designed to prevent or treat injuries often include balance training, although balance interventions have been reported to coincide with more knee injuries. Knowledge of the effect of balance exercises on knee mechanics may be useful when designing training programs. High knee abduction moment has been implicated in the development of PFP, and imbalance between vastus lateralis (VL) and vastus medialis oblique (VMO) may contribute to patellofemoral stress. The purpose was to quantify knee abduction moment and vasti muscle activity during balance exercises. Muscle activity of VMO and VL, three-dimensional lower-extremity kinematics, and ground reaction forces of healthy recreational athletes (12M, 13F) were recorded during five exercises. Peak knee abduction moment, ratio of VMO:VL activity, and delay in onset of VMO relative to VL were quantified for each exercise. The influence of sex and exercise on each variable was determined using a mixed-model ANOVA. All analyses indicated a significant main effect of exercise, p<0.05. Follow-up comparisons showed low peak knee abduction moment and high VMO:VL ratio for the task with anterior-posterior motion. Delay of VMO relative to VL was similar among balance board tasks.

  13. The Domain of Developmental Psychopathology.

    ERIC Educational Resources Information Center

    Sroufe, L. Alan; Rutter, Michael

    1984-01-01

    Describes how developmental psychopathology differs from related disciplines, including abnormal psychology, psychiatry, clinical child psychology, and developmental psychology. Points out propositions underlying a developmental perspective and discusses implications for research in developmental psychopathology. (Author/RH)

  14. Signaling Delays Preclude Defects in Lateral Inhibition Patterning.

    PubMed

    Glass, David S; Jin, Xiaofan; Riedel-Kruse, Ingmar H

    2016-03-25

    Lateral inhibition represents a well-studied example of biology's ability to self-organize multicellular spatial patterns with single-cell precision. Despite established biochemical mechanisms for lateral inhibition (e.g., Delta-Notch), it remains unclear how cell-cell signaling delays inherent to these mechanisms affect patterning outcomes. We investigate a compact model of lateral inhibition highlighting these delays and find, remarkably, that long delays can ensure defect-free patterning. This effect is underscored by an interplay with synchronous oscillations, cis interactions, and signaling strength. Our results suggest that signaling delays, though previously posited as a source of developmental defects, may in fact be a general regulatory knob for tuning developmental robustness.

  15. Quantifier Comprehension in Corticobasal Degeneration

    ERIC Educational Resources Information Center

    McMillan, Corey T.; Clark, Robin; Moore, Peachie; Grossman, Murray

    2006-01-01

    In this study, we investigated patients with focal neurodegenerative diseases to examine a formal linguistic distinction between classes of generalized quantifiers, like "some X" and "less than half of X." Our model of quantifier comprehension proposes that number knowledge is required to understand both first-order and higher-order quantifiers.…

  16. Developmental Profiles of Infants and Toddlers with Autism Spectrum Disorders Identified Prospectively in a Community-Based Setting

    ERIC Educational Resources Information Center

    Barbaro, Josephine; Dissanayake, Cheryl

    2012-01-01

    This prospective, longitudinal, study charted the developmental profiles of young children with Autism Spectrum Disorders (ASD) identified through routine developmental surveillance. 109 children with Autistic Disorder (AD), "broader" ASD, and developmental and/or language delays (DD/LD) were assessed using the Mullen Scales of Early Learning…

  17. Memory Abilities in Williams Syndrome: Dissociation or Developmental Delay Hypothesis?

    ERIC Educational Resources Information Center

    Sampaio, Adriana; Sousa, Nuno; Fernandez, Montse; Henriques, Margarida; Goncalves, Oscar F.

    2008-01-01

    Williams syndrome (WS) is a neurodevelopmental genetic disorder often described as being characterized by a dissociative cognitive architecture, in which profound impairments of visuo-spatial cognition contrast with relative preservation of linguistic, face recognition and auditory short-memory abilities. This asymmetric and dissociative cognition…

  18. Auditory spatial localization: Developmental delay in children with visual impairments.

    PubMed

    Cappagli, Giulia; Gori, Monica

    2016-01-01

    For individuals with visual impairments, auditory spatial localization is one of the most important features to navigate in the environment. Many works suggest that blind adults show similar or even enhanced performance for localization of auditory cues compared to sighted adults (Collignon, Voss, Lassonde, & Lepore, 2009). To date, the investigation of auditory spatial localization in children with visual impairments has provided contrasting results. Here we report, for the first time, that contrary to visually impaired adults, children with low vision or total blindness show a significant impairment in the localization of static sounds. These results suggest that simple auditory spatial tasks are compromised in children, and that this capacity recovers over time.

  19. Determinants of Activity and Participation in Preschoolers with Developmental Delay

    ERIC Educational Resources Information Center

    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…

  20. Delayed recombination and standard rulers

    SciTech Connect

    De Bernardis, Francesco; Melchiorri, Alessandro; Bean, Rachel; Galli, Silvia; Silk, Joseph I.; Verde, Licia

    2009-02-15

    Measurements of baryonic acoustic oscillations (BAOs) in galaxy surveys have been recognized as a powerful tool for constraining dark energy. However, this method relies on the knowledge of the size of the acoustic horizon at recombination derived from cosmic microwave background (CMB) anisotropy measurements. This estimate is typically derived assuming a standard recombination scheme; additional radiation sources can delay recombination altering the cosmic ionization history and the cosmological inferences drawn from CMB and BAO data. In this paper we quantify the effect of delayed recombination on the determination of dark energy parameters from future BAO surveys such as the Baryon Oscillation Spectroscopic Survey and the Wide-Field Multi-Object Spectrograph. We find the impact to be small but still not negligible. In particular, if recombination is nonstandard (to a level still allowed by CMB data), but this is ignored, future surveys may incorrectly suggest the presence of a redshift-dependent dark energy component. On the other hand, in the case of delayed recombination, adding to the analysis one extra parameter describing deviations from standard recombination does not significantly degrade the error bars on dark energy parameters and yields unbiased estimates. This is due to the CMB-BAO complementarity.

  1. Quantifying the adaptive cycle

    USGS Publications Warehouse

    Angeler, David G.; Allen, Craig R.; Garmestani, Ahjond S.; Gunderson, Lance H.; Hjerne, Olle; Winder, Monika

    2015-01-01

    The adaptive cycle was proposed as a conceptual model to portray patterns of change in complex systems. Despite the model having potential for elucidating change across systems, it has been used mainly as a metaphor, describing system dynamics qualitatively. We use a quantitative approach for testing premises (reorganisation, conservatism, adaptation) in the adaptive cycle, using Baltic Sea phytoplankton communities as an example of such complex system dynamics. Phytoplankton organizes in recurring spring and summer blooms, a well-established paradigm in planktology and succession theory, with characteristic temporal trajectories during blooms that may be consistent with adaptive cycle phases. We used long-term (1994–2011) data and multivariate analysis of community structure to assess key components of the adaptive cycle. Specifically, we tested predictions about: reorganisation: spring and summer blooms comprise distinct community states; conservatism: community trajectories during individual adaptive cycles are conservative; and adaptation: phytoplankton species during blooms change in the long term. All predictions were supported by our analyses. Results suggest that traditional ecological paradigms such as phytoplankton successional models have potential for moving the adaptive cycle from a metaphor to a framework that can improve our understanding how complex systems organize and reorganize following collapse. Quantifying reorganization, conservatism and adaptation provides opportunities to cope with the intricacies and uncertainties associated with fast ecological change, driven by shifting system controls. Ultimately, combining traditional ecological paradigms with heuristics of complex system dynamics using quantitative approaches may help refine ecological theory and improve our understanding of the resilience of ecosystems.

  2. Quantifying T Lymphocyte Turnover

    PubMed Central

    De Boer, Rob J.; Perelson, Alan S.

    2013-01-01

    Peripheral T cell populations are maintained by production of naive T cells in the thymus, clonal expansion of activated cells, cellular self-renewal (or homeostatic proliferation), and density dependent cell life spans. A variety of experimental techniques have been employed to quantify the relative contributions of these processes. In modern studies lymphocytes are typically labeled with 5-bromo-2′-deoxyuridine (BrdU), deuterium, or the fluorescent dye carboxy-fluorescein diacetate succinimidyl ester (CFSE), their division history has been studied by monitoring telomere shortening and the dilution of T cell receptor excision circles (TRECs) or the dye CFSE, and clonal expansion has been documented by recording changes in the population densities of antigen specific cells. Proper interpretation of such data in terms of the underlying rates of T cell production, division, and death has proven to be notoriously difficult and involves mathematical modeling. We review the various models that have been developed for each of these techniques, discuss which models seem most appropriate for what type of data, reveal open problems that require better models, and pinpoint how the assumptions underlying a mathematical model may influence the interpretation of data. Elaborating various successful cases where modeling has delivered new insights in T cell population dynamics, this review provides quantitative estimates of several processes involved in the maintenance of naive and memory, CD4+ and CD8+ T cell pools in mice and men. PMID:23313150

  3. Quantifying the Adaptive Cycle.

    PubMed

    Angeler, David G; Allen, Craig R; Garmestani, Ahjond S; Gunderson, Lance H; Hjerne, Olle; Winder, Monika

    2015-01-01

    The adaptive cycle was proposed as a conceptual model to portray patterns of change in complex systems. Despite the model having potential for elucidating change across systems, it has been used mainly as a metaphor, describing system dynamics qualitatively. We use a quantitative approach for testing premises (reorganisation, conservatism, adaptation) in the adaptive cycle, using Baltic Sea phytoplankton communities as an example of such complex system dynamics. Phytoplankton organizes in recurring spring and summer blooms, a well-established paradigm in planktology and succession theory, with characteristic temporal trajectories during blooms that may be consistent with adaptive cycle phases. We used long-term (1994-2011) data and multivariate analysis of community structure to assess key components of the adaptive cycle. Specifically, we tested predictions about: reorganisation: spring and summer blooms comprise distinct community states; conservatism: community trajectories during individual adaptive cycles are conservative; and adaptation: phytoplankton species during blooms change in the long term. All predictions were supported by our analyses. Results suggest that traditional ecological paradigms such as phytoplankton successional models have potential for moving the adaptive cycle from a metaphor to a framework that can improve our understanding how complex systems organize and reorganize following collapse. Quantifying reorganization, conservatism and adaptation provides opportunities to cope with the intricacies and uncertainties associated with fast ecological change, driven by shifting system controls. Ultimately, combining traditional ecological paradigms with heuristics of complex system dynamics using quantitative approaches may help refine ecological theory and improve our understanding of the resilience of ecosystems.

  4. Quantifying Anderson's fault types

    USGS Publications Warehouse

    Simpson, R.W.

    1997-01-01

    Anderson [1905] explained three basic types of faulting (normal, strike-slip, and reverse) in terms of the shape of the causative stress tensor and its orientation relative to the Earth's surface. Quantitative parameters can be defined which contain information about both shape and orientation [Ce??le??rier, 1995], thereby offering a way to distinguish fault-type domains on plots of regional stress fields and to quantify, for example, the degree of normal-faulting tendencies within strike-slip domains. This paper offers a geometrically motivated generalization of Angelier's [1979, 1984, 1990] shape parameters ?? and ?? to new quantities named A?? and A??. In their simple forms, A?? varies from 0 to 1 for normal, 1 to 2 for strike-slip, and 2 to 3 for reverse faulting, and A?? ranges from 0?? to 60??, 60?? to 120??, and 120?? to 180??, respectively. After scaling, A?? and A?? agree to within 2% (or 1??), a difference of little practical significance, although A?? has smoother analytical properties. A formulation distinguishing horizontal axes as well as the vertical axis is also possible, yielding an A?? ranging from -3 to +3 and A?? from -180?? to +180??. The geometrically motivated derivation in three-dimensional stress space presented here may aid intuition and offers a natural link with traditional ways of plotting yield and failure criteria. Examples are given, based on models of Bird [1996] and Bird and Kong [1994], of the use of Anderson fault parameters A?? and A?? for visualizing tectonic regimes defined by regional stress fields. Copyright 1997 by the American Geophysical Union.

  5. Maturational delay in ADHD: evidence from CPT

    PubMed Central

    Berger, Itai; Slobodin, Ortal; Aboud, Merav; Melamed, Julia; Cassuto, Hanoch

    2013-01-01

    While data from behavioral, neuropsychological, and brain studies suggested that Attention-Deficit/Hyperactivity Disorder (ADHD) is related to a developmental lag that reduces with age, other studies have proposed that ADHD represents a deviant brain function. The present study used a cross-sectional approach to examine whether ADHD children show a developmental delay in cognitive performance measured by continuous performance test (CPT). We thus, compared six age groups of ADHD children (N = 559) and their unaffected peers (N = 365), aged 6–11, in four parameters of MOXO-CPT performance: Attention, Timing, Hyperactivity and Impulsivity. Results have shown that despite improvement in CPT performance with age, ADHD children continued to demonstrate impaired performance as compared to controls. In most parameters, CPT performance of ADHD children matched that of 1–3 years younger normal controls, with a delay most prominent in older children. However, in the Hyperactivity parameter, ADHD children's performance resembled that of much younger healthy children, with almost no evidence for a developmental catch up. This study suggests that while some cognitive functions develop slower but normally, other functions (e.g., inhibitory control) show a different trajectory. PMID:24298243

  6. CGI delay compensation

    NASA Technical Reports Server (NTRS)

    Mcfarland, Richard E.

    1986-01-01

    Computer-generated graphics in real-time helicopter simulation produces objectionable scene-presentation time delays. In the flight simulation laboratory at Ames Research Center, it has been determined that these delays have an adverse influence on pilot performance during aggressive tasks such as nap-of-the-earth (NOE) maneuvers. Using contemporary equipment, computer-generated image (CGI) time delays are an unavoidable consequence of the operations required for scene generation. However, providing that magnitide distortions at higher frequencies are tolerable, delay compensation is possible over a restricted frequency range. This range, assumed to have an upper limit of perhaps 10 or 15 rad/sec, conforms approximately to the bandwidth associated with helicopter handling qualities research. A compensation algorithm is introduced here and evaluated in terms of tradeoffs in frequency responses. The algorithm has a discrete basis and accommodates both a large, constant transport delay interval and a periodic delay interval, as associated with asynchronous operations.

  7. Intolerance to Delayed Reward in Girls with Multiple Suicide Attempts

    ERIC Educational Resources Information Center

    Mathias, Charles W.; Dougherty, Donald M.; James, Lisa M.; Richard, Dawn M.; Dawes, Michael A.; Acheson, Ashley; Hill-Kapturczak, Nathalie

    2011-01-01

    Impulsivity has been conceptualized as influencing the expression of suicidal behavior. Adolescence is a developmental period characterized both by a relatively high rate of suicide attempts and a high level of impulsivity. The current study examined two behavioral measures (delay reward and disinhibition) and one self-report measure of…

  8. Listening Behavior in Children at Risk for Communication Delay.

    ERIC Educational Resources Information Center

    Hugo, Rene; Louw, Brenda; Kritzinger, A.; Smit, G. J.

    2000-01-01

    A study evaluated the use of a clinical tool developed to determine the listening behavior of young children at risk for developmental communication delays. The evaluation procedure was developed and successfully applied to 66 children (ages birth to 3) attending an early intervention program over a period of 3 years. (Contains six references.)…

  9. Screening for Developmental Disabilities

    PubMed Central

    Foster, Carol; Duran-Flores, Deborah; Dumars, Kenneth W.; Stills, Stanley

    1985-01-01

    Developmental disabilities are responsible for a combination of severe physical, mental, psychological and social deficits. They develop before age 22 years and involve a little more than 1% of the population. Screening for developmental disabilities is the first step in their prevention. Various screening instruments are available for use throughout the developmental years that are designed to detect the wide variety of developmental problems that interfere with a developing person's optimal adaptation to his or her environment. The screening instruments must be inexpensive, reproducible, widely available and cost effective to the child, family and society. PMID:2413633

  10. Environmentally Benign Pyrotechnic Delays

    DTIC Science & Technology

    2012-06-01

    jay.poret@us.army.mil † School of Mechanical Engineering, Purdue University, West Lafayette, Indiana, USA ABSTRACT Pyrotechnic delays are used in...benign formulations are described. The delay time of the new system is easily tunable. These compositions will consistently function in aluminum ...tunable. These compositions will consistently function in aluminum housings which is generally difficult for delay compositions due to extreme thermal

  11. Delayed Orgasm and Anorgasmia

    PubMed Central

    Jenkins, Lawrence C.; Mulhall, John P.

    2016-01-01

    Delayed orgasm/anorgasmia defined as the persistent or recurrent difficulty, delay in, or absence of attaining orgasm after sufficient sexual stimulation, which causes personal distress. Delayed orgasm and anorgasmia are associated with significant sexual dissatisfaction. A focused medical history can shed light on the potential etiologies; which include: medications, penile sensation loss, endocrinopathies, penile hyperstimulation and psychological etiologies, amongst others. Unfortunately, there are no excellent pharmacotherapies for delayed orgasm/anorgasmia, and treatment revolves largely around addressing potential causative factors and psychotherapy. PMID:26439762

  12. Delayed emergence after anesthesia.

    PubMed

    Tzabazis, Alexander; Miller, Christopher; Dobrow, Marc F; Zheng, Karl; Brock-Utne, John G

    2015-06-01

    In most instances, delayed emergence from anesthesia is attributed to residual anesthetic or analgesic medications. However, delayed emergence can be secondary to unusual causes and present diagnostic dilemmas. Data from clinical studies is scarce and most available published material is comprised of case reports. In this review, we summarize and discuss less common and difficult to diagnose reasons for delayed emergence and present cases from our own experience or reference published case reports/case series. The goal is to draw attention to less common reasons for delayed emergence, identify patient populations that are potentially at risk and to help anesthesiologists identifying a possible cause why their patient is slow to wake up.

  13. VARIABLE TIME DELAY MEANS

    DOEpatents

    Clemensen, R.E.

    1959-11-01

    An electrically variable time delay line is described which may be readily controlled simuitaneously with variable impedance matching means coupied thereto such that reflections are prevented. Broadly, the delay line includes a signal winding about a magnetic core whose permeability is electrically variable. Inasmuch as the inductance of the line varies directly with the permeability, the time delay and characteristic impedance of the line both vary as the square root of the permeability. Consequently, impedance matching means may be varied similariy and simultaneously w:th the electrically variable permeability to match the line impedance over the entire range of time delay whereby reflections are prevented.

  14. Delayed puberty and amenorrhea.

    PubMed

    Hoffman, Barbara; Bradshaw, Karen D

    2003-11-01

    The ability to diagnose and manage disorders that cause delayed puberty requires a thorough understanding of the physical and hormonal events of puberty. Wide variation exists within normal pubertal maturation, but most adolescent girls in the United States have begun to mature by the age of 13. Delayed puberty, a rare condition in girls, occurs in only approximately 2.5% of the population. Constitutional delay, genetic defects, or hypothalamic-pituitary disorders are common causes. Amenorrhea, often found as a symptom of delayed puberty, may be due to congenital genital tract anomalies, ovarian failure, or chronic anovulation with estrogen presence or with estrogen absence.

  15. Live imaging of developmental processes in a living meristem of Davidia involucrata (Nyssaceae)

    PubMed Central

    Jerominek, Markus; Bull-Hereñu, Kester; Arndt, Melanie; Claßen-Bockhoff, Regine

    2014-01-01

    Morphogenesis in plants is usually reconstructed by scanning electron microscopy and histology of meristematic structures. These techniques are destructive and require many samples to obtain a consecutive series of states. Unfortunately, using this methodology the absolute timing of growth and complete relative initiation of organs remain obscure. To overcome this limitation, an in vivo observational method based on Epi-Illumination Light Microscopy (ELM) was developed and tested with a male inflorescence meristem (floral unit) of the handkerchief tree Davidia involucrata Baill. (Nyssaceae). We asked whether the most basal flowers of this floral unit arise in a basipetal sequence or, alternatively, are delayed in their development. The growing meristem was observed for 30 days, the longest live observation of a meristem achieved to date. The sequence of primordium initiation indicates a later initiation of the most basal flowers and not earlier or simultaneously as SEM images could suggest. D. involucrata exemplarily shows that live-ELM gives new insights into developmental processes of plants. In addition to morphogenetic questions such as the transition from vegetative to reproductive meristems or the absolute timing of ontogenetic processes, this method may also help to quantify cellular growth processes in the context of molecular physiology and developmental genetics studies. PMID:25431576

  16. Live imaging of developmental processes in a living meristem of Davidia involucrata (Nyssaceae).

    PubMed

    Jerominek, Markus; Bull-Hereñu, Kester; Arndt, Melanie; Claßen-Bockhoff, Regine

    2014-01-01

    Morphogenesis in plants is usually reconstructed by scanning electron microscopy and histology of meristematic structures. These techniques are destructive and require many samples to obtain a consecutive series of states. Unfortunately, using this methodology the absolute timing of growth and complete relative initiation of organs remain obscure. To overcome this limitation, an in vivo observational method based on Epi-Illumination Light Microscopy (ELM) was developed and tested with a male inflorescence meristem (floral unit) of the handkerchief tree Davidia involucrata Baill. (Nyssaceae). We asked whether the most basal flowers of this floral unit arise in a basipetal sequence or, alternatively, are delayed in their development. The growing meristem was observed for 30 days, the longest live observation of a meristem achieved to date. The sequence of primordium initiation indicates a later initiation of the most basal flowers and not earlier or simultaneously as SEM images could suggest. D. involucrata exemplarily shows that live-ELM gives new insights into developmental processes of plants. In addition to morphogenetic questions such as the transition from vegetative to reproductive meristems or the absolute timing of ontogenetic processes, this method may also help to quantify cellular growth processes in the context of molecular physiology and developmental genetics studies.

  17. Cross-Linguistic Relations between Quantifiers and Numerals in Language Acquisition: Evidence from Japanese

    ERIC Educational Resources Information Center

    Barner, David; Libenson, Amanda; Cheung, Pierina; Takasaki, Mayu

    2009-01-01

    A study of 104 Japanese-speaking 2- to 5-year-olds tested the relation between numeral and quantifier acquisition. A first study assessed Japanese children's comprehension of quantifiers, numerals, and classifiers. Relative to English-speaking counterparts, Japanese children were delayed in numeral comprehension at 2 years of age but showed no…

  18. Assessing the Developmental Neurotoxicity of 27 ...

    EPA Pesticide Factsheets

    Assessing the Developmental Neurotoxicity of 27 Organophosphorus Pesticides Using a Zebrafish Behavioral Assay, Waalkes, M., Hunter, D.L., Jarema, K., Mundy, W., and S. Padilla. The U.S. Environmental Protection Agency is evaluating methods to screen and prioritize organophosphorus pesticides for developmental neurotoxicity. As such, we are exploring a behavioral testing paradigm that can assess the effects of sublethal and subteratogenic concentrations of developmental neurotoxicants on zebrafish (Danio rerio). This in vivo assay quantifies the locomotor response to light stimuli under tandem light and dark conditions in a 96-well plate using a video tracking system on 6 day post fertilization zebrafish larvae. Each of twenty-seven organophosphorus pesticides was tested for their developmental neurotoxic potential by exposing zebrafish embryos/larvae to the pesticide at several concentrations (≤ 100 μM nominal concentration) during the first five days of development, followed by 24 hours of depuration and then behavioral testing. Approximately 22% of the chemicals (Acephate, Dichlorvos, Diazoxon, Bensulide,Tribufos, Tebupirimfos) did not produce any behavioral changes after developmental exposure, while many (Malaoxon Fosthiazate, Dimethoate, Dicrotophos, Ethoprop, Malathion, Naled, Diazinon, Methamidophos, Terbufos, Trichlorfon, Phorate, Pirimiphos-methyl, Profenofos, Z-Tetrachlorvinphos, Chlorpyrifos, Coumaphos, Phosmet, Omethoate) produced changes in swi

  19. Developmental Changes in Cognitive and Behavioural Functioning of Adolescents with Fragile-X Syndrome

    ERIC Educational Resources Information Center

    Frolli, A.; Piscopo, S.; Conson, M.

    2015-01-01

    Background: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural…

  20. Speech and Language Delay

    MedlinePlus

    ... the child just doesn't want to talk)Cerebral palsy (a movement disorder caused by brain damage)Why ... contributed by: familydoctor.org editorial staff Tags: autism, cerebral palsy, developmental disability, Early Language Milestone Scale, elective mutism, ...

  1. Genetics and Developmental Psychology

    ERIC Educational Resources Information Center

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  2. Digital time delay

    DOEpatents

    Martin, A.D.

    1986-05-09

    Method and apparatus are provided for generating an output pulse following a trigger pulse at a time delay interval preset with a resolution which is high relative to a low resolution available from supplied clock pulses. A first lumped constant delay provides a first output signal at predetermined interpolation intervals corresponding to the desired high resolution time interval. Latching circuits latch the high resolution data to form a first synchronizing data set. A selected time interval has been preset to internal counters and corrected for circuit propagation delay times having the same order of magnitude as the desired high resolution. Internal system clock pulses count down the counters to generate an internal pulse delayed by an internal which is functionally related to the preset time interval. A second LCD corrects the internal signal with the high resolution time delay. A second internal pulse is then applied to a third LCD to generate a second set of synchronizing data which is complementary with the first set of synchronizing data for presentation to logic circuits. The logic circuits further delay the internal output signal with the internal pulses. The final delayed output signal thereafter enables the output pulse generator to produce the desired output pulse at the preset time delay interval following input of the trigger pulse.

  3. Time Delay Estimation

    DTIC Science & Technology

    2006-01-01

    investigate the possibility of exploiting the properties of a detected Low Probability of Intercept (LPI) signal waveform to estimate time delay, and by...ratios, namely 10 dB and less. We also examine the minimum time –delay estimate error – the Cramer–Rao bound. The results indicate that the method

  4. Developmental Outcome in a Tracheostomized Child: A Case Study.

    ERIC Educational Resources Information Center

    Vaivre-Douret, Laurence; And Others

    1995-01-01

    Reports developmental outcomes of a child who experienced a tracheostomy and had prolonged hospitalization and psychomotor therapy in an intensive care unit. Found a pattern of delay in speech and language production with no hearing loss, no cognitive impairment, an average level of fine motor disorders, no behavioral disorders, and normal…

  5. Training Vision Screening Behavior to Children with Developmental Disabilities

    ERIC Educational Resources Information Center

    Simer, Nancy; Cuvo, Anthony J.

    2009-01-01

    The American Academy of Pediatrics recommends vision screening of all children between 3 and 5 years of age, and states have mandated vision screening for all school children. Participants were three 4-6-year old school children with either a developmental delay or autism who scored "could not test" on the state required vision screening.…

  6. Romantic Relationship Patterns in Young Adulthood and Their Developmental Antecedents

    ERIC Educational Resources Information Center

    Rauer, Amy J.; Pettit, Gregory S.; Lansford, Jennifer E.; Bates, John E.; Dodge, Kenneth A.

    2013-01-01

    The delayed entry into marriage that characterizes modern society raises questions about young adults' romantic relationship trajectories and whether patterns found to characterize adolescent romantic relationships persist into young adulthood. The current study traced developmental transitions into and out of romantic relationships from age…

  7. A Comprehensive Cost/Benefit Model: Developmental Student Success Impact

    ERIC Educational Resources Information Center

    Gallard, Alejandro J.; Albritton, Frank; Morgan, Mark W.

    2010-01-01

    Colleges are facing an increasing population of students who begin their college experience in developmental education classes in reading, math, and/or English. Many of these students are unsuccessful in attaining a degree, sometimes because they are deterred by their lack of preparation and the delay of two or more semesters before they begin…

  8. DEVELOPMENTAL DIVERSITY OF AMPHIBIANS

    PubMed Central

    Elinson, Richard P.; del Pino, Eugenia M.

    2011-01-01

    The current model amphibian, Xenopus laevis, develops rapidly in water to a tadpole which metamorphoses into a frog. Many amphibians deviate from the X. laevis developmental pattern. Among other adaptations, their embryos develop in foam nests on land or in pouches on their mother’s back or on a leaf guarded by a parent. The diversity of developmental patterns includes multinucleated oogenesis, lack of RNA localization, huge non-pigmented eggs, and asynchronous, irregular early cleavages. Variations in patterns of gastrulation highlight the modularity of this critical developmental period. Many species have eliminated the larva or tadpole and directly develop to the adult. The wealth of developmental diversity among amphibians coupled with the wealth of mechanistic information from X. laevis permit comparisons that provide deeper insights into developmental processes. PMID:22662314

  9. Prothoracicotropic hormone regulates developmental timing and body size in Drosophila

    PubMed Central

    McBrayer, Zofeyah; Ono, Hajime; Shimell, MaryJane; Parvy, Jean-Philippe; Beckstead, Robert B.; Warren, James T.; Thummel, Carl S.; Dauphin-Villemant, Chantal; Gilbert, Lawrence I.; O’Connor, Michael B.

    2008-01-01

    Summary In insects, control of body size is intimately linked to nutritional quality as well as environmental and genetic cues that regulate the timing of developmental transitions. Prothoracicotropic hormone (PTTH) has been proposed to play an essential role in regulating the production and/or release of ecdysone, a steroid hormone that stimulates molting and metamorphosis. In this report we examine the consequences on Drosophila development of ablating the PTTH-producing neurons. Surprisingly, PTTH production is not essential for molting or metamorphosis. Instead, loss of PTTH results in delayed larval development and eclosion of larger flies with more cells. Prolonged feeding, without changing the rate of growth, causes the developmental delay and is a consequence of low ecdysteroid titers. These results indicate that final body size in insects is determined by a balance between growth rate regulators such as insulin and developmental timing cues such as PTTH that set the duration of the feeding interval. PMID:18061567

  10. Developmental neurotoxicology of polychlorinated biphenyls and related compounds

    SciTech Connect

    Tilson, H.A.; Harry, G.J.

    1992-01-01

    Polychlorinated biphenyls are stable, lipophilic industrial compounds that are present in residue levels in human tissue, wildlife and freshwater sediment. They are toxic and are known to pass the placenta and intoxicate the fetus. Two large outbreaks of poisoning have occurred in Asia and women pregnant at or after the exposures had children who were developmentally impaired. Laboratory experiments in rhesus monkeys and rodents designed to assess neural or developmental neurotoxic effects show altered activity levels, impaired learning, and delayed ontogeny of reflexes. Children exposed transplacentally to PCBs in North America have been reported to display hypotonia and hyporeflexia at birth, delay in psychomotor development at 6 and 12 months of age and poorer visual recognition at 7 months. PCBs appear to be developmental neurotoxicants in both humans and animals and may pose a significant health risk, particularly to pregnant women and their offspring.

  11. Children's interpretations of general quantifiers, specific quantifiers, and generics

    PubMed Central

    Gelman, Susan A.; Leslie, Sarah-Jane; Was, Alexandra M.; Koch, Christina M.

    2014-01-01

    Recently, several scholars have hypothesized that generics are a default mode of generalization, and thus that young children may at first treat quantifiers as if they were generic in meaning. To address this issue, the present experiment provides the first in-depth, controlled examination of the interpretation of generics compared to both general quantifiers ("all Xs", "some Xs") and specific quantifiers ("all of these Xs", "some of these Xs"). We provided children (3 and 5 years) and adults with explicit frequency information regarding properties of novel categories, to chart when "some", "all", and generics are deemed appropriate. The data reveal three main findings. First, even 3-year-olds distinguish generics from quantifiers. Second, when children make errors, they tend to be in the direction of treating quantifiers like generics. Third, children were more accurate when interpreting specific versus general quantifiers. We interpret these data as providing evidence for the position that generics are a default mode of generalization, especially when reasoning about kinds. PMID:25893205

  12. Delayed neutron detection with an integrated differential die-away and delayed neutron instrument

    SciTech Connect

    Blanc, Pauline; Tobin, Stephen J; Lee, Taehoon; Hu, Jianwei S; Hendricks, John; Croft, Stephen

    2010-01-01

    The Next Generation Safeguards Initiative (NGSI) of the U.S. Department of Energy (DOE) has funded a multilab/university collaboration to quantify the plutonium (Pu) mass and detect the diversion of pins from spent nuclear fuel. The first two years of this NGSI effort was focused on quantifying the capability of a range of nondestructive assay (NDA) techniques with Monte Carlo (MCNPX) modeling and the second current phase involves measuring Spent Fuel. One of the techniques of interest in this paper involves measuring delayed neutrons. A delayed neutron instrument using 36 fission chambers and a 14 MeV neutron generator so called DT generator (Deuterium + Tritium) surrounding the fuel was previously studied as part of the NGSI effort. This paper will quantify the capability of a standalone delayed neutron instrument using 4 {sup 3}He gas filled tubes and a DT generator with significant spectrum tailoring, located far from the fuel. So that future research can assess how well a delayed neutron instrument will function as part of an integrated NDA system. A new design is going to be used to respond to the need of the techniques. This design has been modeled for a water media and is currently being optimized for borated water and air media as part of ongoing research. This new design was selected in order to minimize the fission of {sup 238}U, to use a more realistic neutron generator design in the model, to reduce cost and facilitate the integration of a delayed neutron (DN) with a differential die-away (DDA) instrument. Since this paper will focus on delayed neutron detection, the goal is to quantify the signal from {sup 235}U, {sup 239}Pu and {sup 241}Pu, which are the isotopes present in Spent Fuel that respond significantly to a neutron interrogation. This report will quantify the capability of this new delayed neutron design to measure the combined mass of {sup 235}U, {sup 239}Pu and {sup 241}Pu for 16 of the 64 assemblies of the NGSI Spent Fuel library in one

  13. Recall Memory in Children with Down Syndrome and Typically Developing Peers Matched on Developmental Age

    ERIC Educational Resources Information Center

    Milojevich, H.; Lukowski, A.

    2016-01-01

    Background: Whereas research has indicated that children with Down syndrome (DS) imitate demonstrated actions over short delays, it is presently unknown whether children with DS recall information over lengthy delays at levels comparable with typically developing (TD) children matched on developmental age. Method: In the present research, 10…

  14. Simple method of measuring delay time in manufacturing delay lines

    NASA Astrophysics Data System (ADS)

    Kasahara, Yukio; Mikoda, Masanari

    1982-07-01

    A simple method for measuring delay time in an operational frequency range is required in manufacturing delay lines used for video tape recorders and television receiver sets. This paper describes a simple method of measuring and adjusting the delay time of such delay lines. The delay time is obtained by measuring a phase difference ϑ between the signals at the input and output transducers of the delay line with frequencies under test. The delay time is more precisely obtained by measuring the ϑ at a constant frequency within the bandwidth of the delay line. A delay-time tolerance of a polished glass medium at 3.58 MHz was found to be within 100 ns. The delay time was found to be shortened by 30 ns by attaching the medium on polishing powder and oil. Also shown is a simple method for adjusting the delay time by polishing a delay medium while measuring the phase difference.

  15. Molecular Mechanisms of Midfacial Developmental Defects

    PubMed Central

    Suzuki, Akiko; Sangani, Dhruvee R.; Ansari, Afreen; Iwata, Junichi

    2015-01-01

    The morphogenesis of midfacial processes requires the coordination of a variety of cellular functions of both mesenchymal and epithelial cells to develop complex structures. Any failure or delay in midfacial development as well as any abnormal fusion of the medial and lateral nasal and maxillary prominences will result in developmental defects in the midface with a varying degree of severity, including cleft, hypoplasia, and midline expansion. In spite of the advances in human genome sequencing technology, the causes of nearly 70 percent of all birth defects, which include midfacial development defects, remain unknown. Recent studies in animal models have highlighted the importance of specific signaling cascades and genetic-environmental interactions in the development of the midfacial region. This review will summarize the current understanding of the morphogenetic processes and molecular mechanisms underlying midfacial birth defects based on mouse models with midfacial developmental abnormalities. PMID:26562615

  16. Choice and reinforcement delay

    SciTech Connect

    Gentry, G.D.; Marr, M.J.

    1980-01-01

    Previous studies of choice between two delayed reinforcers have indicated that the relative immediacy of the reinforcer is a major determinant of the relative frequency of responding. Parallel studies of choice between two interresponse times have found exceptions to this generality. The present study looked at the choice by pigeons between two delays, one of which was always four times longer than the other, but whose absolute durations were varied across conditions. The results indicated that choice is not uniquely determined by the relative immediacy of reinforcement, but that absolute delays are also involved. Models for concurrent chained schedules appear to be more applicable to the present data than the matching relation; however, these too failed to predict choice for long delays.

  17. Developmental trajectories for children with dyslexia and low IQ poor readers.

    PubMed

    Kuppen, Sarah E A; Goswami, Usha

    2016-05-01

    Reading difficulties are found in children with both high and low IQ and it is now clear that both groups exhibit difficulties in phonological processing. Here, we apply the developmental trajectories approach, a new methodology developed for studying language and cognitive impairments in developmental disorders, to both poor reader groups. The trajectory methodology enables identification of atypical versus delayed development in datasets gathered using group matching designs. Regarding the cognitive predictors of reading, which here are phonological awareness, phonological short-term memory (PSTM) and rapid automatized naming (RAN), the method showed that trajectories for the two groups diverged markedly. Children with dyslexia showed atypical development in phonological awareness, while low IQ poor readers showed developmental delay. Low IQ poor readers showed atypical PSTM and RAN development, but children with dyslexia showed developmental delay. These divergent trajectories may have important ramifications for supporting each type of poor reader, although all poor readers showed weakness in all areas. Regarding auditory processing, the developmental trajectories were very similar for the two poor reader groups. However, children with dyslexia demonstrated developmental delay for auditory discrimination of Duration, while the low IQ children showed atypical development on this measure. The data show that, regardless of IQ, poor readers have developmental trajectories that differ from typically developing children. The trajectories approach enables differences in trajectory classification to be identified across poor reader group, as well as specifying the individual nature of these trajectories. (PsycINFO Database Record

  18. Developmental Trajectories for Children With Dyslexia and Low IQ Poor Readers

    PubMed Central

    2016-01-01

    Reading difficulties are found in children with both high and low IQ and it is now clear that both groups exhibit difficulties in phonological processing. Here, we apply the developmental trajectories approach, a new methodology developed for studying language and cognitive impairments in developmental disorders, to both poor reader groups. The trajectory methodology enables identification of atypical versus delayed development in datasets gathered using group matching designs. Regarding the cognitive predictors of reading, which here are phonological awareness, phonological short-term memory (PSTM) and rapid automatized naming (RAN), the method showed that trajectories for the two groups diverged markedly. Children with dyslexia showed atypical development in phonological awareness, while low IQ poor readers showed developmental delay. Low IQ poor readers showed atypical PSTM and RAN development, but children with dyslexia showed developmental delay. These divergent trajectories may have important ramifications for supporting each type of poor reader, although all poor readers showed weakness in all areas. Regarding auditory processing, the developmental trajectories were very similar for the two poor reader groups. However, children with dyslexia demonstrated developmental delay for auditory discrimination of Duration, while the low IQ children showed atypical development on this measure. The data show that, regardless of IQ, poor readers have developmental trajectories that differ from typically developing children. The trajectories approach enables differences in trajectory classification to be identified across poor reader group, as well as specifying the individual nature of these trajectories. PMID:27110928

  19. An investigation of the factors affecting flatfoot in children with delayed motor development.

    PubMed

    Chen, Kun-Chung; Tung, Li-Chen; Tung, Chien-Hung; Yeh, Chih-Jung; Yang, Jeng-Feng; Wang, Chun-Hou

    2014-03-01

    This study investigated the prevalence of flatfoot in children with delayed motor development and the relevant factors affecting it. In total, 121 preschool-aged children aged 3-6 with delayed motor development (male: 81; female: 40) were enrolled in the motor-developmentally delayed children group, and 4 times that number, a total of 484 children (male: 324; female: 160), of gender- and age-matched normal developmental children were used as a control group for further analyses. The age was from 3.0 to 6.9 years old for the participants. The judgment criterion of flatfoot was the Chippaux-Smirak index >62.70%, in footprint measurement. The results showed that the prevalence of flatfoot in children with motor developmental delay was higher than that in normal developmental children, approximately 58.7%, and that it decreased with age from 62.8% of 3-year-olds to 50.0% of 6-year-olds. The results also showed that motor-developmentally delayed children with flatfoot are at about 1.5 times the risk of normal developmental children (odds ratio=1.511, p=0.005). In addition, the prevalence of flatfoot is relatively higher in overweight children with delayed motor development, and that in obese children is even as high as 95.8% (23/24). Children with both excessive joint laxity and delayed development are more likely to suffer from flatfoot. The findings of this study can serve as a reference for clinical workers to deal with foot issues in children with delayed motor development.

  20. Time delay spectrum conditioner

    DOEpatents

    Greiner, Norman R.

    1980-01-01

    A device for delaying specified frequencies of a multiple frequency laser beam. The device separates the multiple frequency beam into a series of spatially separated single frequency beams. The propagation distance of the single frequency beam is subsequently altered to provide the desired delay for each specific frequency. Focusing reflectors can be utilized to provide a simple but nonadjustable system or, flat reflectors with collimating and focusing optics can be utilized to provide an adjustable system.

  1. Developmental coordination disorder

    MedlinePlus

    ... with visual or fine motor coordination (for example, writing, using scissors, tying shoelaces, or tapping one finger ... take notes may help children who have trouble writing. Children with developmental coordination disorder are more likely ...

  2. Developmental milestones record

    MedlinePlus

    ... in the early years is to follow your child's development. Most parents also watch for different milestones. Talk ... child's provider if you have concerns about your child's development. Closely watching a "checklist" or calendar of developmental ...

  3. Plants: Novel Developmental Processes.

    ERIC Educational Resources Information Center

    Goldberg, Robert B.

    1988-01-01

    Describes the diversity of plants. Outlines novel developmental and complex genetic processes that are specific to plants. Identifies approaches that can be used to solve problems in plant biology. Cites the advantages of using higher plants for experimental systems. (RT)

  4. Engaging pediatricians in developmental screening: the effectiveness of academic detailing.

    PubMed

    Honigfeld, Lisa; Chandhok, Laura; Spiegelman, Kenneth

    2012-06-01

    Use of formal developmental screening tools in the pediatric medical home improves early identification of children with developmental delays and disorders, including Autism Spectrum Disorders. A pilot study evaluated the impact of an academic detailing module in which trainers visited 43 pediatric primary care practices to provide education about implementing developmental screening tools in well-child services. Attendees responded to a post presentation survey stating that they planned to implement screening in their practices. Medicaid billing data showed an increase in the state's overall rate of screening. An audit of medical charts in five practices that received the training and five that did not showed higher screening rates in practices that received the training as well as higher rates after the training than before. These pilot study results indicate the potential of academic detailing as an effective strategy for improving rates of developmental screening.

  5. Developmental cholinotoxicants: nicotine and chlorpyrifos.

    PubMed Central

    Slotkin, T A

    1999-01-01

    The stimulation of cholinergic receptors in target cells during a critical developmental period provides signals that influence cell replication and differentiation. Accordingly, environmental agents that promote cholinergic activity evoke neurodevelopmental damage because of the inappropriate timing or intensity of stimulation. Nicotine evokes mitotic arrest in brain cells possessing high concentrations of nicotinic cholinergic receptors. In addition, the cholinergic overstimulation programs the expression of genes that evoke apoptosis and delayed cell loss. Effects of cholinesterase inhibitors exhibit many similarities to those of nicotine. Chlorpyrifos administered to developing rats in doses that do not evoke signs of overt toxicity decreased DNA synthesis and caused shortfalls in cell numbers in brain regions enriched in cholinergic innervation. In embryo cultures, chlorpyrifos also evoked apoptosis during neurulation. However, chlorpyrifos also evokes noncholinergic disruption of cell development by interfering with cell signaling via adenylyl cyclase, leading to widespread disruption that is not limited to cholinergic systems. We have tested this hypothesis in vitro with PC12 cells, which lack the enzymes necessary to produce chlorpyrifos oxon, the metabolite that inhibits cholinesterase. Chlorpyrifos inhibited DNA synthesis in undifferentiated PC12 cells, which have relatively few cholinergic receptors. Furthermore, chlorpyrifos was more effective than nicotine and its effects were not blocked by cholinergic antagonists. When cells were allowed to differentiate in the presence of chlorpyrifos, cell replication was inhibited even more profoundly and cell acquisition was arrested. At higher concentrations, chlorpyrifos also inhibited neuritic outgrowth. Thus, chlorpyrifos elicits damage by both noncholinergic and cholinergic mechanisms extending from early stages of neural cell replication through late stages of axonogenesis and terminal differentiation

  6. Delay-correlation landscape reveals characteristic time delays of brain rhythms and heart interactions

    NASA Astrophysics Data System (ADS)

    Lin, Aijing; Liu, Kang K. L.; Bartsch, Ronny P.; Ivanov, Plamen Ch.

    2016-05-01

    Within the framework of `Network Physiology', we ask a fundamental question of how modulations in cardiac dynamics emerge from networked brain-heart interactions. We propose a generalized time-delay approach to identify and quantify dynamical interactions between physiologically relevant brain rhythms and the heart rate. We perform empirical analysis of synchronized continuous EEG and ECG recordings from 34 healthy subjects during night-time sleep. For each pair of brain rhythm and heart interaction, we construct a delay-correlation landscape (DCL) that characterizes how individual brain rhythms are coupled to the heart rate, and how modulations in brain and cardiac dynamics are coordinated in time. We uncover characteristic time delays and an ensemble of specific profiles for the probability distribution of time delays that underly brain-heart interactions. These profiles are consistently observed in all subjects, indicating a universal pattern. Tracking the evolution of DCL across different sleep stages, we find that the ensemble of time-delay profiles changes from one physiologic state to another, indicating a strong association with physiologic state and function. The reported observations provide new insights on neurophysiological regulation of cardiac dynamics, with potential for broad clinical applications. The presented approach allows one to simultaneously capture key elements of dynamic interactions, including characteristic time delays and their time evolution, and can be applied to a range of coupled dynamical systems.

  7. Developmental outcome of children with enlargement of the cisterna magna identified in utero.

    PubMed

    Dror, Raheli; Malinger, Gustavo; Ben-Sira, Liat; Lev, Dorit; Pick, Chaim G; Lerman-Sagie, Tally

    2009-12-01

    An enlarged cisterna magna can be identified during routine ultrasound screening in the second half of pregnancy. It is important to be able to give an accurate prognosis. We evaluated the developmental outcome of these children. A total of 29 fetuses with a large cisterna magna identified in utero were compared to 35 children with a normal fetal ultrasound. The children were evaluated by the Gesell Developmental Schedules and the Peabody Developmental Motor Scale. The study group showed a significantly worse performance in the Gesell test. However, the overall performance for both groups was within normal limits. Four children in the study group had a borderline developmental quotient. Both groups performed similarly in the Peabody test. Walking age was significantly delayed in the study group. Children with an enlarged cisterna magna may be at risk for mild developmental delay. In cases of nonisolated enlargement of the cisterna magna, the outcome may be guarded.

  8. Quantifying aggregation dynamics during Myxococcus xanthus development.

    PubMed

    Zhang, Haiyang; Angus, Stuart; Tran, Michael; Xie, Chunyan; Igoshin, Oleg A; Welch, Roy D

    2011-10-01

    Under starvation conditions, a swarm of Myxococcus xanthus cells will undergo development, a multicellular process culminating in the formation of many aggregates called fruiting bodies, each of which contains up to 100,000 spores. The mechanics of symmetry breaking and the self-organization of cells into fruiting bodies is an active area of research. Here we use microcinematography and automated image processing to quantify several transient features of developmental dynamics. An analysis of experimental data indicates that aggregation reaches its steady state in a highly nonmonotonic fashion. The number of aggregates rapidly peaks at a value 2- to 3-fold higher than the final value and then decreases before reaching a steady state. The time dependence of aggregate size is also nonmonotonic, but to a lesser extent: average aggregate size increases from the onset of aggregation to between 10 and 15 h and then gradually decreases thereafter. During this process, the distribution of aggregates transitions from a nearly random state early in development to a more ordered state later in development. A comparison of experimental results to a mathematical model based on the traffic jam hypothesis indicates that the model fails to reproduce these dynamic features of aggregation, even though it accurately describes its final outcome. The dynamic features of M. xanthus aggregation uncovered in this study impose severe constraints on its underlying mechanisms.

  9. Downhole delay assembly for blasting with series delay

    DOEpatents

    Ricketts, Thomas E.

    1982-01-01

    A downhole delay assembly is provided which can be placed into a blasthole for initiation of explosive in the blasthole. The downhole delay assembly includes at least two detonating time delay devices in series in order to effect a time delay of longer than about 200 milliseconds in a round of explosions. The downhole delay assembly provides a protective housing to prevent detonation of explosive in the blasthole in response to the detonation of the first detonating time delay device. There is further provided a connection between the first and second time delay devices. The connection is responsive to the detonation of the first detonating time delay device and initiates the second detonating time delay device. A plurality of such downhole delay assemblies are placed downhole in unfragmented formation and are initiated simultaneously for providing a round of explosive expansions. The explosive expansions can be used to form an in situ oil shale retort containing a fragmented permeable mass of formation particles.

  10. CHEMICAL PRIORITIZATION FOR DEVELOPMENTAL ...

    EPA Pesticide Factsheets

    Defining a predictive model of developmental toxicity from in vitro and high-throughput screening (HTS) assays can be limited by the availability of developmental defects data. ToxRefDB (www.epa.gov/ncct/todrefdb) was built from animal studies on data-rich environmental chemicals, and has been used as an anchor for predictive modeling of ToxCast™ data. Scaling to thousands of untested chemicals requires another approach. ToxPlorer™ was developed as a tool to query and extract specific facts about defined biological entities from the open scientific literature and to coherently synthesize relevant knowledge about relationships, pathways and processes in toxicity. Here, we investigated the specific application of ToxPlorer to weighting HTS assay targets for relevance to developmental defects as defined in the literature. First, we systemically analyzed 88,193 Pubmed abstracts selected by bulk query using harmonized terminology for 862 developmental endpoints (www.devtox.net) and 364,334 dictionary term entities in our VT-KB (virtual tissues knowledgebase). We specifically focused on entities corresponding to genes/proteins mapped across of >500 ToxCast HTS assays. The 88,193 devtox abstracts mentioned 244 gene/protein entities in an aggregated total of ~8,000 occurrences. Each of the 244 assays was scored and weighted by the number of devtox articles and relevance to developmental processes. This score was used as a feature for chemical prioritization by Toxic

  11. Developmental neurotoxicity of industrial chemicals.

    PubMed

    Grandjean, P; Landrigan, P J

    2006-12-16

    Neurodevelopmental disorders such as autism, attention deficit disorder, mental retardation, and cerebral palsy are common, costly, and can cause lifelong disability. Their causes are mostly unknown. A few industrial chemicals (eg, lead, methylmercury, polychlorinated biphenyls [PCBs], arsenic, and toluene) are recognised causes of neurodevelopmental disorders and subclinical brain dysfunction. Exposure to these chemicals during early fetal development can cause brain injury at doses much lower than those affecting adult brain function. Recognition of these risks has led to evidence-based programmes of prevention, such as elimination of lead additives in petrol. Although these prevention campaigns are highly successful, most were initiated only after substantial delays. Another 200 chemicals are known to cause clinical neurotoxic effects in adults. Despite an absence of systematic testing, many additional chemicals have been shown to be neurotoxic in laboratory models. The toxic effects of such chemicals in the developing human brain are not known and they are not regulated to protect children. The two main impediments to prevention of neurodevelopmental deficits of chemical origin are the great gaps in testing chemicals for developmental neurotoxicity and the high level of proof required for regulation. New, precautionary approaches that recognise the unique vulnerability of the developing brain are needed for testing and control of chemicals.

  12. Developmental neurotoxicity of polybrominated biphenyls.

    PubMed

    Henck, J W; Mattsson, J L; Rezabek, D H; Carlson, C L; Rech, R H

    1994-01-01

    Female F0 generation Sprague-Dawley rats received daily oral doses of 0, 0.2, or 2 mg/kg polybrominated biphenyls (PBB) as fireMaster BP-6 from Day 6 of gestation through Day 24 postpartum. Maternal parameters were assessed, and F1 generation offspring were evaluated for growth and survival, as well as physical and behavioral development. No adverse maternal effects were observed nor were there PBB-related effects on survival of the F1 generation or acquisition of developmental landmarks. Crown-rump length of 0.2 and 2 mg/kg male offspring was significantly less than that of controls and 2 mg/kg male and female offspring gained significantly less weight than did controls for the entire 60-day postnatal observation period. An overall evaluation of behavior by multivariate analysis of variance revealed significant PBB-related effects for acquisition of forward locomotion, cliff avoidance, cage emergence, and open-field activity of male and female offspring from dams administered 2 mg/kg. Delays in acquisition of forward locomotion and suppressed open-field activity were the most prominent effects. These indications of growth retardation and neurobehavioral toxicity occurred at concentrations of PBB in offspring body fat in the range of those which have been reported for highly exposed human subjects with neurological sequelae.

  13. Apomixis: a developmental perspective.

    PubMed

    Koltunow, Anna M; Grossniklaus, Ueli

    2003-01-01

    The term apomixis encompasses a suite of processes whereby seeds form asexually in plants. In contrast to sexual reproduction, seedlings arising from apomixis retain the genotype of the maternal parent. The transfer of apomixis and its effective utilization in crop plants (where it is largely absent) has major advantages in agriculture. The hallmark components of apomixis include female gamete formation without meiosis (apomeiosis), fertilization-independent embryo development (parthenogenesis), and developmental adaptations to ensure functional endosperm formation. Understanding the molecular mechanisms underlying apomixis, a developmentally fascinating phenomenon in plants, is critical for the successful induction and utilization of apomixis in crop plants. This review draws together knowledge gained from analyzing ovule, embryo, and endosperm development in sexual and apomictic plants. It consolidates the view that apomixis and sexuality are closely interrelated developmental pathways where apomixis can be viewed as a deregulation of the sexual process in both time and space.

  14. Infantile-onset saccade initiation delay (congenital ocular motor apraxia).

    PubMed

    Salman, Michael S

    2015-05-01

    Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defective slow phases of the optokinetic response are commonly associated with brain MRI abnormalities. Isolated defect of vertical saccade initiation may indicate supratentorial brain abnormalities on MRI. Joubert syndrome, a developmental midbrain-hindbrain malformation, and ataxia telangiectasia are both commonly associated with defective volitional and reflexive saccade initiation, saccade hypometria, and head thrusts. Both horizontal and vertical saccades are impaired in these two disorders.

  15. Developmental disorders of vision.

    PubMed

    Galaburda, Albert M; Duchaine, Bradley C

    2003-08-01

    This review of developmental disorders of vision focuses on only a few of the many disorders that disrupt visual development. Given the enormity of the human visual system in the primate brain and complexity of visual development, however, there are likely hundreds or thousands of types of disorders affecting high-level vision. The rapid progress seen in developmental dyslexia and WMS demonstrates the possibilities and difficulties inherent in researching such disorders, and the authors hope that similar progress will be made for congenital prosopagnosia and other disorders in the near future.

  16. Annotation: Early Intervention and Prevention of Self-Injurious Behaviour Exhibited by Young Children with Developmental Disabilities

    ERIC Educational Resources Information Center

    Richman, D. M.

    2008-01-01

    The ontogeny of self-injurious behaviour exhibited by young children with developmental delays or disabilities is due to a complex interaction between neurobiological and environmental variables. In this manuscript, the literature on emerging self-injury in the developmental disability population is reviewed with a focus on an operant conceptual…

  17. Differentiating between Autism Spectrum Disorders and Other Developmental Disabilities in Children Who Failed a Screening Instrument for ASD

    ERIC Educational Resources Information Center

    Ventola, Pamela; Kleinman, Jamie; Pandey, Juhi; Wilson, Leandra; Esser, Emma; Boorstein, Hilary; Dumont-Mathieu, Thyde; Marshia, Gail; Barton, Marianne; Hodgson, Sarah; Green, James; Volkmar, Fred; Chawarska, Katarzyna; Babitz, Tammy; Robins, Diana; Fein, Deborah

    2007-01-01

    This study compared behavioral presentation of toddlers with autistic spectrum disorders (ASD) and toddlers with global developmental delay (DD) or developmental language disorder (DLD) who display some characteristics of ASD using the diagnostic algorithm items from the Autism Diagnostic Observation Schedule, Generic (ADOS), the Childhood Autism…

  18. 'No delays achiever'.

    PubMed

    2007-05-01

    The latest version of the NHS Institute for Innovation and Improvement's 'no delays achiever', a web based tool created to help NHS organisations achieve the 18-week target for GP referrals to first treatment, is available at www.nodelaysachiever.nhs.uk.

  19. Contingencies promote delay tolerance.

    PubMed

    Ghaemmaghami, Mahshid; Hanley, Gregory P; Jessel, Joshua

    2016-09-01

    The effectiveness of functional communication training as treatment for problem behavior depends on the extent to which treatment can be extended to typical environments that include unavoidable and unpredictable reinforcement delays. Time-based progressive delay (TBPD) often results in the loss of acquired communication responses and the resurgence of problem behavior, whereas contingency-based progressive delay (CBPD) appears to be effective for increasing tolerance for delayed reinforcement. No direct comparison of TBPD and CBPD has, however, been conducted. We used single-subject designs to compare the relative efficacy of TBPD and CBPD. Four individuals who engaged in problem behavior (e.g., aggression, vocal and motor disruptions, self-injury) participated. Results were consistent across all participants, and showed lower rates of problem behavior and collateral responses during CBPD than during TBPD. The generality of CBPD treatment effects, including optimal rates of communication and compliance with demands, was demonstrated across a small but heterogeneous group of participants, reinforcement contingencies, and contexts.

  20. Delayed traumatic diaphragmatic hernia

    PubMed Central

    Lu, Jing; Wang, Bo; Che, Xiangming; Li, Xuqi; Qiu, Guanglin; He, Shicai; Fan, Lin

    2016-01-01

    Abstract Background: Traumatic diaphragmatic hernias (TDHs) are sometimes difficult to identify at an early stage and can consequently result in diagnostic delays with life-threatening outcomes. It is the aim of this case study to highlight the difficulties encountered with the earlier detection of traumatic diaphragmatic hernias. Methods: Clinical data of patients who received treatment for delayed traumatic diaphragmatic hernias in registers of the First Affiliated Hospital of Xi’an Jiaotong University from 1998 to 2014 were analyzed retrospectively. Results: Six patients were included in this study. Left hemidiaphragm was affected in all of them. Most of the patients had a history of traffic accident and 1 a stab-penetrating injury. The interval from injury to developing symptoms ranged from 2 to 11 years (median 5 years). The hernial contents included the stomach, omentum, small intestine, and colon. Diaphragmatic injury was missed in all of them during the initial managements. All patients received operations once the diagnosis of delayed TDH was confirmed, and no postoperative mortality was detected. Conclusions: Delayed TDHs are not common, but can lead to serious consequences once occurred. Early detection of diaphragmatic injuries is crucial. Surgeons should maintain a high suspicion for injuries of the diaphragm in cases with abdominal or lower chest traumas, especially in the initial surgical explorations. We emphasize the need for radiographical follow-up to detect diaphragmatic injuries at an earlier stage. PMID:27512848

  1. Developmental Exposure to an Environmental PCB Mixture ...

    EPA Pesticide Factsheets

    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 6 mg/kg/day of the PCB mixture dissolved in corn oil vehicle during the perinatal period. On postnatal day (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 200 µA 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 an attenuated focal (amygdala) excitability. A delay in kindling progression from a focally stimulated limbic site stands in contrast to our previous finding of increase

  2. Developmental Neurotoxicology: History and Outline of Developmental Neurotoxicity Study Guidelines.

    EPA Science Inventory

    The present work provides a brief review of basic concepts in developmental neurotoxicology, as well as current representative testing guidelines for evaluating developmental neurotoxicity (DNT) of xenobiotics. Historically, DNT was initially recognized as a “functional” teratoge...

  3. Delayed fluorescence in photosynthesis.

    PubMed

    Goltsev, Vasilij; Zaharieva, Ivelina; Chernev, Petko; Strasser, Reto J

    2009-01-01

    Photosynthesis is a very efficient photochemical process. Nevertheless, plants emit some of the absorbed energy as light quanta. This luminescence is emitted, predominantly, by excited chlorophyll a molecules in the light-harvesting antenna, associated with Photosystem II (PS II) reaction centers. The emission that occurs before the utilization of the excitation energy in the primary photochemical reaction is called prompt fluorescence. Light emission can also be observed from repopulated excited chlorophylls as a result of recombination of the charge pairs. In this case, some time-dependent redox reactions occur before the excitation of the chlorophyll. This delays the light emission and provides the name for this phenomenon-delayed fluorescence (DF), or delayed light emission (DLE). The DF intensity is a decreasing polyphasic function of the time after illumination, which reflects the kinetics of electron transport reactions both on the (electron) donor and the (electron) acceptor sides of PS II. Two main experimental approaches are used for DF measurements: (a) recording of the DF decay in the dark after a single turnover flash or after continuous light excitation and (b) recording of the DF intensity during light adaptation of the photosynthesizing samples (induction curves), following a period of darkness. In this paper we review historical data on DF research and recent advances in the understanding of the relation between the delayed fluorescence and specific reactions in PS II. An experimental method for simultaneous recording of the induction transients of prompt and delayed chlorophyll fluorescence and decay curves of DF in the millisecond time domain is discussed.

  4. Interferometric Propagation Delay

    NASA Technical Reports Server (NTRS)

    Goldstein, Richard

    1999-01-01

    Radar interferometry based on (near) exact repeat passes has lately been used by many groups of scientists, worldwide, to achieve state of the art measurements of topography, glacier and ice stream motion, earthquake displacements, oil field subsidence, lava flows, crop-induced surface decorrelation, and other effects. Variations of tropospheric and ionospheric propagation delays limit the accuracy of all such measurements. We are investigating the extent of this limitation, using data from the Shuttle radar flight, SIR-C, which is sensitive to the troposphere, and the Earth Resources Satellites, ERS-1/2, which are sensitive to both the troposphere and the ionosphere. We are presently gathering statistics of the delay variations over selected, diverse areas to determine the best accuracy possible for repeat track interferometry. The phases of an interferogram depend on both the topography of the scene and variations in propagation delay. The delay variations can be caused by movement of elements in the scene, by changes in tropospheric water vapor and by changes of the charge concentrations in the ionosphere. We plan to separate these causes by using the data from a third satellite visit (three-pass interferometry). The figure gives the geometry of the three-pass observations. The page of the figure is taken to be perpendicular to the spacecraft orbits. The three observational locations are marked on the figure, giving baselines B-12 and B-13, separated by the angle alpha. These parameters are almost constant over the whole scene. However, each pixel has an individual look angle, theta, which is related to the topography, rho is the slant range. A possible spurious time delay is shown. Additional information is contained in the original.

  5. Quantifying PV power Output Variability

    SciTech Connect

    Hoff, Thomas E.; Perez, Richard

    2010-10-15

    This paper presents a novel approach to rigorously quantify power Output Variability from a fleet of photovoltaic (PV) systems, ranging from a single central station to a set of distributed PV systems. The approach demonstrates that the relative power Output Variability for a fleet of identical PV systems (same size, orientation, and spacing) can be quantified by identifying the number of PV systems and their Dispersion Factor. The Dispersion Factor is a new variable that captures the relationship between PV Fleet configuration, Cloud Transit Speed, and the Time Interval over which variability is evaluated. Results indicate that Relative Output Variability: (1) equals the inverse of the square root of the number of systems for fully dispersed PV systems; and (2) could be further minimized for optimally-spaced PV systems. (author)

  6. An Evaluation of Constant Time Delay and Simultaneous Prompting Procedures in Skill Acquisition for Young Children with Autism

    ERIC Educational Resources Information Center

    Brandt, Julie A. Ackerlund; Weinkauf, Sara; Zeug, Nicole; Klatt, Kevin P.

    2016-01-01

    Previous research has shown that various prompting procedures are effective in teaching skills to children and adults with developmental disabilities. Simultaneous prompting includes proving a prompt immediately following an instruction; whereas constant time-delay procedures include a set time delay (i.e., 5 s or 10 s) prior to delivering a…

  7. Quantifying and measuring cyber resiliency

    NASA Astrophysics Data System (ADS)

    Cybenko, George

    2016-05-01

    Cyber resliency has become an increasingly attractive research and operational concept in cyber security. While several metrics have been proposed for quantifying cyber resiliency, a considerable gap remains between those metrics and operationally measurable and meaningful concepts that can be empirically determined in a scientific manner. This paper describes a concrete notion of cyber resiliency that can be tailored to meet specific needs of organizations that seek to introduce resiliency into their assessment of their cyber security posture.

  8. Oculomotor Impairments in Developmental Dyspraxia.

    PubMed

    Gaymard, B; Giannitelli, M; Challes, G; Rivaud-Péchoux, S; Bonnot, O; Cohen, D; Xavier, J

    2017-04-01

    Children with developmental dyspraxia (DD) express impairments in the acquisition of various motor skills and in the development of their social cognition abilities. Although the neural bases of this condition are not fully understood, they are thought to involve frontal cortical areas, subcortical structures, and the cerebellum. Although cerebellar dysfunction is typically difficult to assess and quantify using traditional neurophysiological methods, oculomotor analysis may provide insight into specific cerebellar patterns. The aim of the present study was to investigate, in dyspraxic and typically developing subjects, various oculomotor saccade tasks specifically designed to reveal frontal and cerebellar dysfunction. In addition to evidence supporting prefrontal dysfunction, our results revealed increased variability of saccade accuracy consistent with cerebellar impairments. Furthermore, we found that dyspraxic patients showed decreased velocities of non-visually guided saccades. A closer analysis revealed significant differences in saccade velocity profiles with slightly decreased maximum saccade velocities but markedly prolonged deceleration phases. We show that this pattern was not related to a decreased state of alertness but was suggestive of cerebellar dysfunction. However, the clear predominance of this pattern in non-visually guided saccades warrants alternative hypotheses. In light of previous experimental and anatomical studies, we propose that this unusual pattern may be a consequence of impaired connections between frontal areas and cerebellar oculomotor structures.

  9. Trends in Developmental Education.

    ERIC Educational Resources Information Center

    Arendale, David

    This paper contains an overview of policy decisions being made at the state and national levels about learning assistance activities in higher education and developmental education. The principles driving those decisions are also outlined. Some policymakers want to fine the high schools from which under prepared students have graduated; others…

  10. Proposal: Developmental Education Program.

    ERIC Educational Resources Information Center

    Helm, Phoebe

    Three program objectives are articulated for establishing a developmental education program to increase retention and graduation rates among academically disadvantaged students at Triton College: (1) instituting horizontal (teaching basic skills) and vertical (assisting in the transfer of basic skills to students' total educational programs)…

  11. Evolutionary Developmental Psychology.

    ERIC Educational Resources Information Center

    Geary, David C.; Bjorklund, David F.

    2000-01-01

    Describes evolutionary developmental psychology as the study of the genetic and ecological mechanisms that govern the development of social and cognitive competencies common to all human beings and the epigenetic (gene-environment interactions) processes that adapt these competencies to local conditions. Outlines basic assumptions and domains of…

  12. Alcoholism: A Developmental Disorder.

    ERIC Educational Resources Information Center

    Tarter, Ralph E.; Vanyukov, Michael

    1994-01-01

    Alcoholism etiology is discussed from developmental behavior genetic perspective. Temperament features that appear to be associated with heightened risk for alcoholism are examined. Their interactions with the environment during course of development are considered within epigenetic framework and, as discussed, have ramifications for improving…

  13. Handbook of Developmental Disabilities

    ERIC Educational Resources Information Center

    Odom, Samuel L., Ed.; Horner, Robert H., Ed.; Snell, Martha E., Ed.; Blacher, Jan, Ed.

    2007-01-01

    This authoritative handbook reviews the breadth of current knowledge about developmental disabilities: neuroscientific and genetic foundations; the impact on health, learning, and behavior; and effective educational and clinical practices. Leading authorities analyze what works in intervening with diverse children and families, from infancy…

  14. Standardized Developmental Ratings.

    ERIC Educational Resources Information Center

    Dirlam, David; Byrne, Maureen

    The feasibility of standardized assessment of features of children's organization of knowledge and the demonstration of differences in organization between stages of development were investigated. It was possible to standardize developmentally derived instruments, in the same way as empirically derived tests because such evaluations concern the…

  15. Developmental Composition in College.

    ERIC Educational Resources Information Center

    Vik, Gretchen Nadeen

    This thesis was a descriptive study of developmental writing programs in two- and four-year colleges. The following areas were investigated: identifying students who need extra language skills help; placing students in flexible programs so they can learn what they individually need to know; evaluating materials to teach skills; evaluating…

  16. Arguments from Developmental Order

    PubMed Central

    Stöckle-Schobel, Richard

    2016-01-01

    In this article1, I investigate a special type of argument regarding the role of development in theorizing about psychological processes and cognitive capacities. Among the issues that developmental psychologists study, discovering the ontogenetic trajectory of mechanisms or capacities underpinning our cognitive functions ranks highly. The order in which functions are developed or capacities are acquired is a matter of debate between competing psychological theories, and also philosophical conceptions of the mind – getting the role and the significance of the different steps in this order right could be seen as an important virtue of such theories. Thus, a special kind of strategy in arguments between competing philosophical or psychological theories is using developmental order in arguing for or against a given psychological claim. In this article, I will introduce an analysis of arguments from developmental order, which come in two general types: arguments emphasizing the importance of the early cognitive processes and arguments emphasizing the late cognitive processes. I will discuss their role in one of the central tools for evaluating scientific theories, namely in making inferences to the best explanation. I will argue that appeal to developmental order is, by itself, an insufficient criterion for theory choice and has to be part of an argument based on other core explanatory or empirical virtues. I will end by proposing a more concerted study of philosophical issues concerning (cognitive) development, and I will present some topics that also pertain to a full-fledged ‘philosophy of development.’ PMID:27242648

  17. Learning Developmental Coaching

    ERIC Educational Resources Information Center

    Hunt, James M.; Weintraub, Joseph R.

    2004-01-01

    This article describes an educational intervention designed to promote the ability and willingness of MBA students to lead through coaching. MBA leadership students are trained to serve as coaches for undergraduate business students in a developmental assessment center. In this compelling context, their main source of influence is the ability to…

  18. Developmental Purposes of Commercial Games.

    ERIC Educational Resources Information Center

    Practical Pointers, 1977

    1977-01-01

    Listed are 45 table, target, manipulative, active, and creative games with such developmental purposes as associative learning, tactile discrimination, and visual motor integration. Information includes the name of the item, distributor, price, description, and developmental purpose. (JYC)

  19. Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients)

    PubMed Central

    KARIMZADEH, Parvaneh; JAFARI, Narjes; NEJAD BIGLARI, Habibeh; JABBEHDARI, Sayena; KHAYAT ZADEH, Simin; AHMAD ABADI, Farzad; LOTFI, Azra

    2016-01-01

    Objective We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones. Materials & Methods The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests. The patients who completed our inclusion criteria as neuro metabolic disorders were evaluated in terms of metabolic and genetic study in referral lab. Results Overall, 213 patients with neurometabolic disorders were diagnosed. 54.3% of patients were male. The average age of patients was 41 +-46.1 months. 71.4% of parent’s patients had consanguinity of marriages. Eighty seven percent of patients had developmental delay (or/and) regression. 55.5% of them had different type of seizures. Overall, 213 patients with 34 different neurometabolic disorders were diagnosed and classified in the 7 sub classes, consisting of: 1- organic acidemia and aminoacidopathy (122 patients), 2-storage disease (37 patients) 3- eukodystrophy (27 patients), other classes consisted: lipid oxidation disorders, urea cycle disorders, progressive myoclonic epilepsy; and peroxizomal disorders (27 patients). Conclusion In patients with developmental delay or regression, with or without seizure, abnormal neurologic exam along with positive family history of similar disorder or relative parents, abnormal brain imaging with specific patterns, neurometabolic disorders should be considered as one of the important treatable diseases PMID:27375759

  20. Developmental and reproductive toxicity testing of vaccines.

    PubMed

    Barrow, Paul

    2012-03-01

    The majority of new preventative and therapeutic vaccines are now assessed for developmental toxicity according to guidelines issued by the FDA in 2006. Despite the absence of confirmed effects in humans, vaccines are frequently suspected of having adverse side-effects on the development of children. Such suspicions are perhaps unavoidable considering the extremely widespread use of vaccines. The preclinical developmental toxicology studies are designed to assess possible influences of each component of the vaccine formulation-and the induced antibodies-on the development of the conceptus, neonate and suckling organism. Immune modulation by a vaccine or an adjuvant could, for instance, affect the outcome of pregnancy by interfering with the natural shift in immune balance of the mother during gestation. Maternal immunoglobulins are transferred from the mother to the offspring in order to confer passive immunity during early life. This maternal antibody transport is prenatal in humans and monkeys, but tends to be delayed until after birth in other species. Therefore, a suitable model species needs to be chosen for preclinical studies in order to ensure exposure of the foetus to the induced maternal antibodies following vaccination. Rabbits are the best laboratory model for prenatal immunoglobulin transfer, but rodents are more practical for the necessary postnatal investigations. Non-human primates are the only appropriate models for the testing of vaccines that are not immunogenic in lower species. It is advisable to test new adjuvants separately according to the ICH S5(R2) guidelines. Preclinical paediatric investigations are not currently required for vaccines, even though most vaccines are given to children. Other areas of regulatory concern include developmental immunotoxicity and effects on the preimplantation embryo. Because of the limitations of the available animal models for developmental toxicity testing, pharmacovigilance is essential.

  1. Developmental Dysplasia of the Hip

    MedlinePlus

    ... to 2-Year-Old Developmental Dysplasia of the Hip KidsHealth > For Parents > Developmental Dysplasia of the Hip A A A What's in this article? What ... Symptoms Diagnosis Treatment Outlook Developmental dysplasia of the hip (DDH) is a problem with the way a ...

  2. [Diagnosis of delayed puberty].

    PubMed

    Busiah, K; Belien, V; Dallot, N; Fila, M; Guilbert, J; Harroche, A; Leger, J

    2007-09-01

    Puberty is the phenomenon that conducts once to reproductive maturation. Delayed puberty (DP) is defined by the absence of testicular development in boys beyond 14 years old (or a testicular volume lower than 4 ml) and by the absence of breast development in girls beyond 13 years old. DP occurs in approximatively 3% of cases. Most cases are functional DP, with a large amount of constitutional delay of puberty. Others etiologies are hypogonadotrophic hypogonadism like Kallmann syndrome, or hypergonadotrophic hypogonadism. Turner syndrome is a diagnostic one should not forget by its frequency. Treatment is hormonal replacement therapy and of the etiology. During the last decade, many genes have been identified and elucidated the etiological diagnosis of some hypogonadotrophic hypogonadism syndrome. Further studies are required in collaboration with molecular biologists to better understand the mechanism of hypothalamic pituitary gonadal axis abnormalities and of the neuroendocrine physiology of the onset of puberty.

  3. Delayed visual maturation.

    PubMed Central

    Cole, G F; Hungerford, J; Jones, R B

    1984-01-01

    Sixteen blind babies who were considered to be showing the characteristics of delayed visual maturation were studied prospectively. The diagnosis was made on clinical grounds, and the criteria for this are discussed. All of these infants developed visual responses between 4 and 6 months of age and had normal or near normal visual acuities by 1 year of age. Long term follow up, however, has shown neurological abnormalities in some of these children. PMID:6200080

  4. Theoretical Delay Time Distributions

    NASA Astrophysics Data System (ADS)

    Nelemans, Gijs; Toonen, Silvia; Bours, Madelon

    2013-01-01

    We briefly discuss the method of population synthesis to calculate theoretical delay time distributions of Type Ia supernova progenitors. We also compare the results of different research groups and conclude that, although one of the main differences in the results for single degenerate progenitors is the retention efficiency with which accreted hydrogen is added to the white dwarf core, this alone cannot explain all the differences.

  5. Delayed coking process

    SciTech Connect

    Shigley, J.K.; Roussel, K.M.; Harris, S.D.

    1991-07-02

    This patent describes improvement in a delayed premium coking process in which an aromatic mineral oil feedstock is heated to elevated temperature and introduced continuously to a coking drum under delayed coking conditions wherein the heated feedstock soaks in its contained heat to convert the feedstock to cracked vapors and premium coke at lower than normal coking temperatures in the range of about 780{degrees} F. to about 895{degrees} F. and in which the introduction of feedstock to the coking drum is discontinued after the coking drum is filled to a desired level. The improvement comprises: introducing additional aromatic mineral oil capable of forming coke admixed with a non-coking material to the coking drum under delayed coking conditions for a sufficient period of time to convert unconverted liquid material to coke wherein the concentration of aromatic mineral oil in the admixture is from 5 to 90 percent, and thereafter subjecting the contents of the coke drum to a heat soak at a temperature greater than the initial coking temperature whereby a premium coke having improved CTE and reduced fluff is obtained.

  6. Autism Spectrum Disorder, Intellectual Disability, and Delayed Walking

    PubMed Central

    Bishop, Somer L.; Thurm, Audrey; Farmer, Cristan; Lord, Catherine

    2016-01-01

    Objective Delayed onset of independent walking is common in Intellectual disability (ID). However, in children with autism spectrum disorders (ASD), delayed walking has not been reported as frequently, despite the high rate of concurrent ID in ASD. This study directly examined the relationship between delayed walking and severity of ID in children with ASD vs. other developmental disabilities (non-ASD). Method Participants were 1,185 individuals (ASD, n=903; non-ASD, n=282) who received an assessment between the ages of 4–12 years (6.89±2.25) that yielded an estimate of nonverbal IQ (NVIQ) and retrospectively reported age of walking from the Autism Diagnostic Interview-Revised. The relationship between diagnostic group and delayed walking (defined as occurring at or after 16 months), as a function of NVIQ was explored using the Cox proportional hazards model. Results Children with ASD were less likely to exhibit delayed walking than those with non-ASD diagnoses, and this difference was larger at lower levels of NVIQ, Χ2 (p)=9.55 (0.002). For example, rates of delayed walking for ASD and non-ASD were 13% and 19%, respectively, in those with NVIQ above 85, but were 31% and 60% in children with NVIQ less than 70. History of seizures was not related to delayed walking, but female sex was found to heighten risk for delayed walking overall. Conclusions While lower IQ scores were associated with increased rates of late walking in both ASD and non-ASD groups, children with low IQ were more likely to show delayed walking in the absence of ASD. This raises the possibility of separate etiological pathways to ID in children with and without ASD. PMID:26908679

  7. Developmental dilatation of Virchow-Robin spaces: a genetic disorder?

    PubMed

    Bruna, Anne-Laure; Martins, Ilda; Husson, Beatrice; Landrieu, Pierre

    2009-10-01

    In childhood, widening of Virchow-Robin spaces is rarely secondary to specific progressive disorders, but more often appears in poorly characterized developmental conditions. From data collected in a neuropediatric department, we examined whether clinical data associated with "constitutional widening of Virchow-Robin spaces" allowed delineation of recognizable entities. Signs in 10 patients, mostly boys, suggested nonspecific cerebral dysfunctions, e.g., developmental delay, nonspecific epilepsy, headaches, or benign macrocephaly. Spaces were sometimes round, subsequently mimicking microcystic malacic lesions. In two patients, abnormal magnetic resonance imaging signals were evident in white matter contiguous to widened perivascular spaces, suggesting a broader disorder of fluid exchanges. Four cases occurred in two sibships. In two families, other patients exhibited early developmental difficulties. Long-term clinical and magnetic resonance imaging surveillance will clarify which cases of primary Virchow-Robin space dilatation imply a benign prognosis. Performance of magnetic resonance imaging on any relative exhibiting minor neuropsychologic handicaps would permit estimations of real genetic incidence.

  8. Application of Sholl analysis to quantify changes in growth and development in rat mammary gland whole mounts.

    PubMed

    Stanko, Jason P; Easterling, Michael R; Fenton, Suzanne E

    2015-07-01

    Studies that utilize the rodent mammary gland (MG) as an endpoint for assessing the developmental toxicity of chemical exposures typically employ either basic dimensional measurements or developmental scoring of morphological characteristics as a means to quantify MG development. There are numerous means by which to report these developmental changes, leading to inconsistent translation across laboratories. The Sholl analysis is a method historically used for quantifying neuronal dendritic patterns. The present study describes the use of the Sholl analysis to quantify MG branching characteristics. Using this method, we were able to detect significant differences in branching density in MG of peripubertal female Sprague Dawley rats that had been exposed to vehicle or a potent estrogen. These data suggest the Sholl analysis can be an effective tool for quantitatively measuring an important characteristic of MG development and for examining associations between MG growth and density and adverse effects in the breast.

  9. Rethinking Developmental Science

    PubMed Central

    Aldwin, Carolyn M.

    2014-01-01

    The articles in this issue are all based on the invited addresses given by the authors at the 2013 biennial meeting of the Society for the Study of Human Development. All of the authors address the unfolding paradigm shift in developmental sciences, from reductionism to relational developmental system theories. This theoretical stance involves the recognition of Individual ↔ context transactions, with multiple co-acting partners existing in dynamic relationships across the lifespan and life course. The articles address not only theoretical issues, but also methodological advances and their applications. While acknowledging the importance of new data collection and analytical techniques that permit the testing of more complex theoretical models, the articles demonstrate that well-designed questions from this theoretical perspective can also yield novel findings which are highly relevant to current real-world problems and social policy issues. PMID:25598750

  10. Developmental Gerstmann's syndrome.

    PubMed

    PeBenito, R; Fisch, C B; Fisch, M L

    1988-09-01

    The tetrad of finger agnosia, dysgraphia, dyscalculia, and right-left disorientation make up Gerstmann's syndrome. The tetrad has been infrequently described in children with learning disability and has been called developmental Gerstmann's syndrome (DGS). Developmental Gerstmann's syndrome may occur in brain-damaged and apparently normal children. Five children in whom DGS occurred in association with brain abnormalities underwent long-term observation, which indicated persistence of the deficits. The identification of these cases suggests that DGS may not be as rare as previously thought and may often be unrecognized. Testing for the Gerstmann elements in learning-disabled children may identify otherwise undiagnosed cases of DGS and should be routinely employed in the neurologic examination. Until appropriate teaching methods for DGS are found, "bypassing" the deficits and utilizing the child's strengths, plus counseling, seem to offer an effective treatment approach.

  11. Motor and Cognitive Developmental Profiles in Children With Down Syndrome

    PubMed Central

    2017-01-01

    Objective To investigate motor and cognitive developmental profiles and to evaluate the correlation between two developmental areas and assess the influencing factors of the developmental process in children with Down syndrome (DS). Methods Seventy-eight children with DS participated in this study. The medical history was taken and motoric milestone achievements recorded. The Korean Wechsler Preschool and Primary Scale of Intelligence (K-WPPSI) and Bayley Scales of Infant Development-II (BSID-II) were administered. Subjects were divided into severe motor delay group (severe group) and typical motor delay group (typical group). Results Children with DS follow the same sequence of motor development and generally displayed double times of acquisition of developmental milestones compared with healthy children. Furthermore, having surgery for associated complications showed negative influence to the motor development. Almost of all children with DS showed moderate degree of intellectual disability and motor and cognitive development do not seem to correlate one another. Conclusion Surgery of associated complications can be negatively related to motor development. However, early motor development did not have any significant effects on the achievement of later cognitive functioning. PMID:28289641

  12. Quantitative developmental transcriptomes of the Mediterranean sea urchin Paracentrotus lividus.

    PubMed

    Gildor, Tsvia; Malik, Assaf; Sher, Noa; Avraham, Linor; Ben-Tabou de-Leon, Smadar

    2016-02-01

    Embryonic development progresses through the timely activation of thousands of differentially activated genes. Quantitative developmental transcriptomes provide the means to relate global patterns of differentially expressed genes to the emerging body plans they generate. The sea urchin is one of the classic model systems for embryogenesis and the models of its developmental gene regulatory networks are of the most comprehensive of their kind. Thus, the sea urchin embryo is an excellent system for studies of its global developmental transcriptional profiles. Here we produced quantitative developmental transcriptomes of the sea urchin Paracentrotus lividus (P. lividus) at seven developmental stages from the fertilized egg to prism stage. We generated de-novo reference transcriptome and identified 29,817 genes that are expressed at this time period. We annotated and quantified gene expression at the different developmental stages and confirmed the reliability of the expression profiles by QPCR measurement of a subset of genes. The progression of embryo development is reflected in the observed global expression patterns and in our principle component analysis. Our study illuminates the rich patterns of gene expression that participate in sea urchin embryogenesis and provide an essential resource for further studies of the dynamic expression of P. lividus genes.

  13. Programmable Differential Delay Circuit With Fine Delay Adjustment

    DOEpatents

    DeRyckere, John F.; Jenkins, Philip Nord; Cornett, Frank Nolan

    2002-07-09

    Circuitry that provides additional delay to early arriving signals such that all data signals arrive at a receiving latch with same path delay. The delay of a forwarded clock reference is also controlled such that the capturing clock edge will be optimally positioned near quadrature (depending on latch setup/hold requirements). The circuitry continuously adapts to data and clock path delay changes and digital filtering of phase measurements reduce errors brought on by jittering data edges. The circuitry utilizes only the minimum amount of delay necessary to achieve objective thereby limiting any unintended jitter. Particularly, this programmable differential delay circuit with fine delay adjustment is designed to allow the skew between ASICS to be minimized. This includes skew between data bits, between data bits and clocks as well as minimizing the overall skew in a channel between ASICS.

  14. Evolutionary and Developmental Modules

    PubMed Central

    Lacquaniti, Francesco; Ivanenko, Yuri P.; d’Avella, Andrea; Zelik, Karl E.; Zago, Myrka

    2013-01-01

    The identification of biological modules at the systems level often follows top-down decomposition of a task goal, or bottom-up decomposition of multidimensional data arrays into basic elements or patterns representing shared features. These approaches traditionally have been applied to mature, fully developed systems. Here we review some results from two other perspectives on modularity, namely the developmental and evolutionary perspective. There is growing evidence that modular units of development were highly preserved and recombined during evolution. We first consider a few examples of modules well identifiable from morphology. Next we consider the more difficult issue of identifying functional developmental modules. We dwell especially on modular control of locomotion to argue that the building blocks used to construct different locomotor behaviors are similar across several animal species, presumably related to ancestral neural networks of command. A recurrent theme from comparative studies is that the developmental addition of new premotor modules underlies the postnatal acquisition and refinement of several different motor behaviors in vertebrates. PMID:23730285

  15. Developmental letter position dyslexia.

    PubMed

    Friedmann, Naama; Rahamim, Einav

    2007-09-01

    Letter position dyslexia (LPD) is a peripheral dyslexia that causes errors of letter order within words. So far, only cases of acquired LPD have been reported. This study presents selective LPD in its developmental form, via the testing of II Hebrew-speaking individuals with developmental dyslexia. The study explores the types of errors and effects on reading in this dyslexia, using a variety of tests: reading aloud, lexical decision, same-different decision, definition and letter naming. The findings indicate that individuals with developmental LPD have a deficit in the letter position encoding function of the orthographic visual analyser, which leads to underspecification of letter position within words. Letter position errors occur mainly in adjacent middle letters, when the error creates another existing word. The participants did not show an output deficit or phonemic awareness deficit. The selectivity of the deficit, causing letter position errors but no letter identity errors and no migrations between words, supports the existence of letter position encoding function as separate from letter identification and letter-to-word binding.

  16. Copper in developmental stuttering.

    PubMed

    Alm, Per A

    2005-01-01

    It has previously been reported that men with developmental stuttering showed reduced concentration of copper in the blood, and a negative correlation between the copper level and the severity of stuttering. Disorders of copper metabolism may result in dysfunction of the basal ganglia system and dystonia, a motor disorder sharing some traits of stuttering. It has been shown that copper ions affect the dopamine and the GABA systems. With this background we investigated the plasma level of copper, the copper binding protein ceruloplasmin, and the estimated level of free copper in stuttering adults. Sixteen men with developmental stuttering were compared with 16 men without speech problems. The samples were assayed in one batch in a pseudorandom and counterbalanced order. No significant differences were found between stuttering men and the control group in any of the biological variables, and no negative correlation between copper and the general severity of stuttering was shown. On the contrary, an explorative analysis resulted in a positive correlation between high plasma copper and superfluous muscular activity during stuttering (r=0.51, p=0.04). This result indicates that there is no relation between developmental stuttering and low plasma copper in the main population of stuttering adults.

  17. Evolutionary developmental psychology.

    PubMed

    King, Ashley C; Bjorklund, David F

    2010-02-01

    The field of evolutionary developmental psychology can potentially broaden the horizons of mainstream evolutionary psychology by combining the principles of Darwinian evolution by natural selection with the study of human development, focusing on the epigenetic effects that occur between humans and their environment in a way that attempts to explain how evolved psychological mechanisms become expressed in the phenotypes of adults. An evolutionary developmental perspective includes an appreciation of comparative research and we, among others, argue that contrasting the cognition of humans with that of nonhuman primates can provide a framework with which to understand how human cognitive abilities and intelligence evolved. Furthermore, we argue that several aspects of childhood (e.g., play and immature cognition) serve both as deferred adaptations as well as imparting immediate benefits. Intense selection pressure was surely exerted on childhood over human evolutionary history and, as a result, neglecting to consider the early developmental period of children when studying their later adulthood produces an incomplete picture of the evolved adaptations expressed through human behavior and cognition.

  18. Delay Choice vs. Delay Maintenance: Different Measures of Delayed Gratification in Capuchin Monkeys (Cebus apella)

    PubMed Central

    Addessi, Elsa; Paglieri, Fabio; Beran, Michael J.; Evans, Theodore A.; Macchitella, Luigi; De Petrillo, Francesca; Focaroli, Valentina

    2013-01-01

    Delaying gratification involves two components: (i) delay choice (selecting a delayed reward over an immediate one), and (ii) delay maintenance (sustaining the decision to delay gratification even if the immediate reward is available during the delay). In primates, two tasks most commonly have explored these components, the Intertemporal choice task and the Accumulation task. It is unclear whether these tasks provide equivalent measures of delay of gratification. Here, we compared the performance of the same capuchin monkeys, belonging to two study populations, between these tasks. We found only limited evidence of a significant correlation in performance. Consequently, in contrast to what is often assumed, our data provide only partial support to the hypothesis that these tasks provide equivalent measures of delay of gratification. PMID:23544770

  19. Vehicle barrier with access delay

    DOEpatents

    Swahlan, David J; Wilke, Jason

    2013-09-03

    An access delay vehicle barrier for stopping unauthorized entry into secure areas by a vehicle ramming attack includes access delay features for preventing and/or delaying an adversary from defeating or compromising the barrier. A horizontally deployed barrier member can include an exterior steel casing, an interior steel reinforcing member and access delay members disposed within the casing and between the casing and the interior reinforcing member. Access delay members can include wooden structural lumber, concrete and/or polymeric members that in combination with the exterior casing and interior reinforcing member act cooperatively to impair an adversarial attach by thermal, mechanical and/or explosive tools.

  20. Adaptive Phase Delay Generator

    NASA Technical Reports Server (NTRS)

    Greer, Lawrence

    2013-01-01

    There are several experimental setups involving rotating machinery that require some form of synchronization. The adaptive phase delay generator (APDG) the Bencic-1000 is a flexible instrument that allows the user to generate pulses synchronized to the rising edge of a tachometer signal from any piece of rotating machinery. These synchronized pulses can vary by the delay angle, pulse width, number of pulses per period, number of skipped pulses, and total number of pulses. Due to the design of the pulse generator, any and all of these parameters can be changed independently, yielding an unparalleled level of versatility. There are two user interfaces to the APDG. The first is a LabVIEW program that has the advantage of displaying all of the pulse parameters and input signal data within one neatly organized window on the PC monitor. Furthermore, the LabVIEW interface plots the rpm of the two input signal channels in real time. The second user interface is a handheld portable device that goes anywhere a computer is not accessible. It consists of a liquid-crystal display and keypad, which enable the user to control the unit by scrolling through a host of command menus and parameter listings. The APDG combines all of the desired synchronization control into one unit. The experimenter can adjust the delay, pulse width, pulse count, number of skipped pulses, and produce a specified number of pulses per revolution. Each of these parameters can be changed independently, providing an unparalleled level of versatility when synchronizing hardware to a host of rotating machinery. The APDG allows experimenters to set up quickly and generate a host of synchronizing configurations using a simple user interface, which hopefully leads to faster results.

  1. Quantifying Aggressive Behavior in Zebrafish.

    PubMed

    Teles, Magda C; Oliveira, Rui F

    2016-01-01

    Aggression is a complex behavior that influences social relationships and can be seen as adaptive or maladaptive depending on the context and intensity of expression. A model organism suitable for genetic dissection of the underlying neural mechanisms of aggressive behavior is still needed. Zebrafish has already proven to be a powerful vertebrate model organism for the study of normal and pathological brain function. Despite the fact that zebrafish is a gregarious species that forms shoals, when allowed to interact in pairs, both males and females express aggressive behavior and establish dominance hierarchies. Here, we describe two protocols that can be used to quantify aggressive behavior in zebrafish, using two different paradigms: (1) staged fights between real opponents and (2) mirror-elicited fights. We also discuss the methodology for the behavior analysis, the expected results for both paradigms, and the advantages and disadvantages of each paradigm in face of the specific goals of the study.

  2. Quantifying protein by bicinchoninic Acid.

    PubMed

    Simpson, Richard J

    2008-08-01

    INTRODUCTIONThis protocol describes a method of quantifying protein that is a variation of the Lowry assay. It uses bicinchoninic acid (BCA) to enhance the detection of Cu(+) generated under alkaline conditions at sites of complexes between Cu(2+) and protein. The resulting chromophore absorbs at 562 nm. This technique is divided into three parts: Standard Procedure, Microprocedure, and 96-Well Microtiter Plate Procedure. For each procedure, test samples are assayed in parallel with protein standards that are used to generate a calibration curve, and the exact concentration of protein in the test samples is interpolated. The standard BCA assay uses large volumes of both reagents and samples and cannot easily be automated. If these issues are important, the Microprocedure is recommended. This in turn can be adapted for use with a microplate reader in the 96-Well Microtiter Plate Procedure. If the microplate reader is interfaced with a computer, more than 1000 samples can be read per hour.

  3. DELAYED REINFORCEMENT OF OPERANT BEHAVIOR

    PubMed Central

    Lattal, Kennon A

    2010-01-01

    The experimental analysis of delay of reinforcement is considered from the perspective of three questions that seem basic not only to understanding delay of reinforcement, but, also, by implication, the contributions of temporal relations between events to operant behavior. The first question is whether effects of the temporal relation between responses and reinforcers can be isolated from other features of the environment that often accompany delays, such as stimuli or changes in the temporal distribution or rate of reinforcement. The second question is that of the effects of delays on operant behavior. Beyond the common denominator of a temporal separation between reinforcers and the responses that produce them, delay of reinforcement procedures differ from one another along several dimensions, making delay effects circumstance dependent. The final question is one of interpreting delay of reinforcement effects. It centers on the role of the response–reinforcer temporal relation in the context of other, concurrently operating behavioral processes. PMID:20676272

  4. Quantifying Shape Changes and Tissue Deformation in Leaf Development.

    PubMed

    Rolland-Lagan, Anne-Gaëlle; Remmler, Lauren; Girard-Bock, Camille

    2014-06-01

    The analysis of biological shapes has applications in many areas of biology, and tools exist to quantify organ shape and detect shape differences between species or among variants. However, such measurements do not provide any information about the mechanisms of shape generation. Quantitative data on growth patterns may provide insights into morphogenetic processes, but since growth is a complex process occurring in four dimensions, growth patterns alone cannot intuitively be linked to shape outcomes. Here, we present computational tools to quantify tissue deformation and surface shape changes over the course of leaf development, applied to the first leaf of Arabidopsis (Arabidopsis thaliana). The results show that the overall leaf shape does not change notably during the developmental stages analyzed, yet there is a clear upward radial deformation of the leaf tissue in early time points. This deformation pattern may provide an explanation for how the Arabidopsis leaf maintains a relatively constant shape despite spatial heterogeneities in growth. These findings highlight the importance of quantifying tissue deformation when investigating the control of leaf shape. More generally, experimental mapping of deformation patterns may help us to better understand the link between growth and shape in organ development.

  5. Epidemiology of delayed ejaculation

    PubMed Central

    Di Sante, Stefania; Mollaioli, Daniele; Gravina, Giovanni Luca; Ciocca, Giacomo; Limoncin, Erika; Carosa, Eleonora; Lenzi, Andrea

    2016-01-01

    A large body of literature on diminished ejaculatory disorders has been generated without the use of a clear diagnostic definition. Many studies have not distinguished between the orgasm and ejaculation disorders leading to doubtful results. Delayed ejaculation (DE) is one of the diminished ejaculatory disorders, which range from varying delays in ejaculatory latency to a complete inability to ejaculate. The present review is aimed at providing a comprehensive overview of the current knowledge on the definition and epidemiology of diminished ejaculatory disorders. We focus on the acquired diseases, such as benign prostatic hyperplasia (BPH) and specific drug regimens that may cause an iatrogenic form of ejaculatory disorder. In addition, the impact of aging is discussed since the prevalence of DE appears to be moderately but positively related to age. Finally, we also focus on the importance of the hormonal milieu on male ejaculation. To date, evidence on the endocrine control of ejaculation is derived from small clinical trials, but the evidence suggests that hormones modulate the ejaculatory process by altering its overall latency. PMID:27652226

  6. Quantifying Evaporation in a Permeable Pavement System

    EPA Science Inventory

    Studies quantifying evaporation from permeable pavement systems are limited to a few laboratory studies and one field application. This research quantifies evaporation for a larger-scale field application by measuring the water balance from lined permeable pavement sections. Th...

  7. Phenotypic Dichotomy Following Developmental Exposure to Perfluorooctanic Acid (PFOA) Exposure in CD-1 Mice: Low Doses Induce Elevated Serum, Leptin, Insulin, and Overweight in Mid-Life.

    EPA Science Inventory

    The synthetic surfactant, perfluorooctanoic acid (PFOA) is a proven developmental toxicant in mice, causing prenatal pregnancy loss, increased neonatal mortality, delayed eye opening, and abnormal mammary gland growth in animals exposed during fetal life. PFOA is found in the ser...

  8. Developmental inflexibility of larval tapeworms in response to resource variation.

    PubMed

    Benesh, Daniel P

    2010-03-15

    The timing of habitat switching in organisms with complex life cycles is an important life history characteristic that is often influenced by the larval growth environment. Under starvation, longer developmental times are frequently observed, probably as a consequence of developmental thresholds, but prolonged ontogeny sometimes also occurs under good conditions, as organisms may take advantage of the large potential gains in body size. I investigated whether variation in growth conditions affects the larval development time of a complex life cycle tapeworm (Schistocephalus solidus) in its copepod first host. Moreover, I reviewed patterns of developmental plasticity in larval tapeworms to assess the generality of my findings. Copepod starvation weakly retarded parasite growth but did not affect development. Worms grew bigger in larger copepods, but they developed at a similar rate in large and small hosts. Thus, S. solidus does not delay ontogeny under good conditions nor does it fail to reach a developmental threshold under poor conditions. Although unusual in comparison to free-living organisms, such inflexibility is common in tapeworms. Plasticity, namely prolonged ontogeny, has been mainly observed at high infection intensities. For S. solidus, there were large cross-environment genetic correlations for development, suggesting there may be genetic constraints on the evolution of developmental plasticity.

  9. Cardiovascular regulation during sleep quantified by symbolic coupling traces

    NASA Astrophysics Data System (ADS)

    Suhrbier, A.; Riedl, M.; Malberg, H.; Penzel, T.; Bretthauer, G.; Kurths, J.; Wessel, N.

    2010-12-01

    Sleep is a complex regulated process with short periods of wakefulness and different sleep stages. These sleep stages modulate autonomous functions such as blood pressure and heart rate. The method of symbolic coupling traces (SCT) is used to analyze and quantify time-delayed coupling of these measurements during different sleep stages. The symbolic coupling traces, defined as the symmetric and diametric traces of the bivariate word distribution matrix, allow the quantification of time-delayed coupling. In this paper, the method is applied to heart rate and systolic blood pressure time series during different sleep stages for healthy controls as well as for normotensive and hypertensive patients with sleep apneas. Using the SCT, significant different cardiovascular mechanisms not only between the deep sleep and the other sleep stages but also between healthy subjects and patients can be revealed. The SCT method is applied to model systems, compared with established methods, such as cross correlation, mutual information, and cross recurrence analysis and demonstrates its advantages especially for nonstationary physiological data. As a result, SCT proves to be more specific in detecting delays of directional interactions than standard coupling analysis methods and yields additional information which cannot be measured by standard parameters of heart rate and blood pressure variability. The proposed method may help to indicate the pathological changes in cardiovascular regulation and also the effects of continuous positive airway pressure therapy on the cardiovascular system.

  10. Cancer and developmental exposure to endocrine disruptors.

    PubMed Central

    Birnbaum, Linda S; Fenton, Suzanne E

    2003-01-01

    Developing organisms have increased susceptibility to cancer if they are exposed to environmental toxicants during rapid growth and differentiation. Human studies have demonstrated clear increases in cancer after prenatal exposure to ionizing radiation, and there is suggestive evidence that brain tumors and leukemia are associated with parental exposures to chemicals. Animal experiments have demonstrated increased tumor formation induced by prenatal or neonatal exposure to a variety of chemicals, including direct-acting carcinogens and drugs. Recently, natural estrogens have been classified as known human carcinogens. Prenatal exposure to natural and synthetic estrogens is associated with increases in breast and vaginal tumors in humans as well as uterine tumors in animals. Synthetic halogenated chemicals increase liver tumors after early life-stage exposure. Recently, a prototypical endocrine-disrupting compound, 2,3,7,8-tetrachlorodibenzo-p-dioxin, has been shown to be a developmental toxicant of the mammary gland in rodents. Dioxin alters multiple endocrine systems, and its effects on the developing breast involve delayed proliferation and differentiation of the mammary gland, as well as an elongation of the window of sensitivity to potential carcinogens. Implications of these new findings suggest that causes of endocrine-related cancers or susceptibility to cancer may be a result of developmental exposures rather than exposures existing at or near the time of tumor detection. PMID:12676588

  11. Developmental Outcomes of Internationally Adopted Children

    PubMed Central

    Welsh, Janet A.; Viana, Andres G.

    2013-01-01

    This study followed the development of a sample of 106 (67 girls) internationally adopted children over a period of 18 months. Children were adopted from five birth regions, including China, Korea, Latin America, Eastern Europe, and other Asian countries. Mean age at adoption was 11 months. Mothers completed the Ages and Stages Questionnaire (ASQ) at 6, 12, and 24 months post-adoption, assessing children's gross and fine motor, communicative, personal-social, and problem solving skills. Results revealed that the sample as a whole demonstrated linear improvement over time in most developmental domains, but children with initially low scores remained significantly lower than other children at the 18-month follow-up. At the first time point, communication was the domain where children most commonly experienced delays. Children with medical problems had significantly lower developmental scores than those without medical diagnoses. ASQ scores were unrelated to age at adoption, but significant differences by birth country region were found. Across most domains, children adopted from Eastern Europe showed generally lower scores than children adopted from other birth regions. PMID:23908583

  12. BRAIN MYELINATION IN PREVALENT NEUROPSYCHIATRIC DEVELOPMENTAL DISORDERS

    PubMed Central

    BARTZOKIS, GEORGE

    2008-01-01

    Current concepts of addiction focus on neuronal neurocircuitry and neurotransmitters and are largely based on animal model data, but the human brain is unique in its high myelin content and extended developmental (myelination) phase that continues until middle age. The biology of our exceptional myelination process and factors that influence it have been synthesized into a recently published myelin model of human brain evolution and normal development that cuts across the current symptom-based classification of neuropsychiatric disorders. The developmental perspective of the model suggests that dysregulations in the myelination process contribute to prevalent early-life neuropsychiatric disorders, as well as to addictions. These disorders share deficits in inhibitory control functions that likely contribute to their high rates of comorbidity with addiction and other impulsive behaviors. The model posits that substances such as alcohol and psychostimulants are toxic to the extremely vulnerable myelination process and contribute to the poor outcomes of primary and comorbid addictive disorders in susceptible individuals. By increasing the scientific focus on myelination, the model provides a rational biological framework for the development of novel, myelin-centered treatments that may have widespread efficacy across multiple disease states and could potentially be used in treating, delaying, or even preventing some of the most prevalent and devastating neuropsychiatric disorders. PMID:18668184

  13. Cancer and developmental exposure to endocrine disruptors.

    PubMed

    Birnbaum, Linda S; Fenton, Suzanne E

    2003-04-01

    Developing organisms have increased susceptibility to cancer if they are exposed to environmental toxicants during rapid growth and differentiation. Human studies have demonstrated clear increases in cancer after prenatal exposure to ionizing radiation, and there is suggestive evidence that brain tumors and leukemia are associated with parental exposures to chemicals. Animal experiments have demonstrated increased tumor formation induced by prenatal or neonatal exposure to a variety of chemicals, including direct-acting carcinogens and drugs. Recently, natural estrogens have been classified as known human carcinogens. Prenatal exposure to natural and synthetic estrogens is associated with increases in breast and vaginal tumors in humans as well as uterine tumors in animals. Synthetic halogenated chemicals increase liver tumors after early life-stage exposure. Recently, a prototypical endocrine-disrupting compound, 2,3,7,8-tetrachlorodibenzo-p-dioxin, has been shown to be a developmental toxicant of the mammary gland in rodents. Dioxin alters multiple endocrine systems, and its effects on the developing breast involve delayed proliferation and differentiation of the mammary gland, as well as an elongation of the window of sensitivity to potential carcinogens. Implications of these new findings suggest that causes of endocrine-related cancers or susceptibility to cancer may be a result of developmental exposures rather than exposures existing at or near the time of tumor detection.

  14. Quantifying periodicity in omics data

    PubMed Central

    Amariei, Cornelia; Tomita, Masaru; Murray, Douglas B.

    2014-01-01

    Oscillations play a significant role in biological systems, with many examples in the fast, ultradian, circadian, circalunar, and yearly time domains. However, determining periodicity in such data can be problematic. There are a number of computational methods to identify the periodic components in large datasets, such as signal-to-noise based Fourier decomposition, Fisher's g-test and autocorrelation. However, the available methods assume a sinusoidal model and do not attempt to quantify the waveform shape and the presence of multiple periodicities, which provide vital clues in determining the underlying dynamics. Here, we developed a Fourier based measure that generates a de-noised waveform from multiple significant frequencies. This waveform is then correlated with the raw data from the respiratory oscillation found in yeast, to provide oscillation statistics including waveform metrics and multi-periods. The method is compared and contrasted to commonly used statistics. Moreover, we show the utility of the program in the analysis of noisy datasets and other high-throughput analyses, such as metabolomics and flow cytometry, respectively. PMID:25364747

  15. Quantifying the seismicity on Taiwan

    NASA Astrophysics Data System (ADS)

    Wu, Yi-Hsuan; Chen, Chien-Chih; Turcotte, Donald L.; Rundle, John B.

    2013-07-01

    We quantify the seismicity on the island of Taiwan using the frequency-magnitude statistics of earthquakes since 1900. A break in Gutenberg-Richter scaling for large earthquakes in global seismicity has been observed, this break is also observed in our Taiwan study. The seismic data from the Central Weather Bureau Seismic Network are in good agreement with the Gutenberg-Richter relation taking b ≈ 1 when M < 7. For large earthquakes, M ≥ 7, the seismic data fit Gutenberg-Richter scaling with b ≈ 1.5. If the Gutenberg-Richter scaling for M < 7 earthquakes is extrapolated to larger earthquakes, we would expect a M > 8 earthquake in the study region about every 25 yr. However, our analysis shows a lower frequency of occurrence of large earthquakes so that the expected frequency of M > 8 earthquakes is about 200 yr. The level of seismicity for smaller earthquakes on Taiwan is about 12 times greater than in Southern California and the possibility of a M ≈ 9 earthquake north or south of Taiwan cannot be ruled out. In light of the Fukushima, Japan nuclear disaster, we also discuss the implications of our study for the three operating nuclear power plants on the coast of Taiwan.

  16. Quantifying Uncertainty in Epidemiological Models

    SciTech Connect

    Ramanathan, Arvind; Jha, Sumit Kumar

    2012-01-01

    Modern epidemiology has made use of a number of mathematical models, including ordinary differential equation (ODE) based models and agent based models (ABMs) to describe the dynamics of how a disease may spread within a population and enable the rational design of strategies for intervention that effectively contain the spread of the disease. Although such predictions are of fundamental importance in preventing the next global pandemic, there is a significant gap in trusting the outcomes/predictions solely based on such models. Hence, there is a need to develop approaches such that mathematical models can be calibrated against historical data. In addition, there is a need to develop rigorous uncertainty quantification approaches that can provide insights into when a model will fail and characterize the confidence in the (possibly multiple) model outcomes/predictions, when such retrospective analysis cannot be performed. In this paper, we outline an approach to develop uncertainty quantification approaches for epidemiological models using formal methods and model checking. By specifying the outcomes expected from a model in a suitable spatio-temporal logic, we use probabilistic model checking methods to quantify the probability with which the epidemiological model satisfies the specification. We argue that statistical model checking methods can solve the uncertainty quantification problem for complex epidemiological models.

  17. Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement.

    PubMed

    Paul, Lynn K

    2011-03-01

    This review provides an overview of the involvement of the corpus callosum (CC) in a variety of developmental disorders that are currently defined exclusively by genetics, developmental insult, and/or behavior. I begin with a general review of CC development, connectivity, and function, followed by discussion of the research methods typically utilized to study the callosum. The bulk of the review concentrates on specific developmental disorders, beginning with agenesis of the corpus callosum (AgCC)-the only condition diagnosed exclusively by callosal anatomy. This is followed by a review of several genetic disorders that commonly result in social impairments and/or psychopathology similar to AgCC (neurofibromatosis-1, Turner syndrome, 22q11.2 deletion syndrome, Williams yndrome, and fragile X) and two forms of prenatal injury (premature birth, fetal alcohol syndrome) known to impact callosal development. Finally, I examine callosal involvement in several common developmental disorders defined exclusively by behavioral patterns (developmental language delay, dyslexia, attention-deficit hyperactive disorder, autism spectrum disorders, and Tourette syndrome).

  18. Quantifying groundwater’s role in delaying improvements to Chesapeake Bay water quality

    USGS Publications Warehouse

    Sanford, Ward E.; Pope, Jason P.

    2013-01-01

    A study has been undertaken to determine the time required for the effects of nitrogen-reducing best management practices (BMPs) implemented at the land surface to reach the Chesapeake Bay via groundwater transport to streams. To accomplish this, a nitrogen mass-balance regression (NMBR) model was developed and applied to seven watersheds on the Delmarva Peninsula. The model included the distribution of groundwater return times obtained from a regional groundwater-flow (GWF) model, the history of nitrogen application at the land surface over the last century, and parameters that account for denitrification. The model was (1) able to reproduce nitrate concentrations in streams and wells over time, including a recent decline in the rate at which concentrations have been increasing, and (2) used to forecast future nitrogen delivery from the Delmarva Peninsula to the Bay given different scenarios of nitrogen load reduction to the water table. The relatively deep porous aquifers of the Delmarva yield longer groundwater return times than those reported earlier for western parts of the Bay watershed. Accordingly, several decades will be required to see the full effects of current and future BMPs. The magnitude of this time lag is critical information for Chesapeake Bay watershed managers and stakeholders.

  19. Delayed cure bismaleimide resins

    DOEpatents

    Adams, Johnnie E.; Jamieson, Donald R.

    1984-08-07

    Polybismaleimides prepared by delayed curing of bis-imides having the formula ##STR1## wherein R.sub.1 and R.sub.2 each independently is H, C.sub.1-4 -alkyl, C.sub.1-4 -alkoxy, Cl or Br, or R.sub.1 and R.sub.2 together form a fused 6-membered hydrocarbon aromatic ring, with the proviso that R.sub.1 and R.sub.2 are not t-butyl or t-butoxy; X is O, S or Se; n is 1-3; and the --(CH.sub.2).sub.n -- group, optionally, is substituted by 1-3 methyl groups or by fluorine.

  20. Soviet delays raise prices

    SciTech Connect

    Young, I.

    1992-01-15

    The breakup of the Soviet Union is causing massive disruptions to methanol exports. The changeover to a Commonwealth of independent States has created logistical problems which have led some shipments of Russian methanol to be cancelled and delayed other deliveries by up to two weeks. In recent years the Soviet Union has exported 700,000 m.t./year-900,000 m.t./year of methanol, mainly to Western Europe. The product is made at 750,000-m.t./year plants at Tomsk and Gubakha in Russia and transported by rail for shipment from the ports of Ventspils, Latvia, on the Baltic Sea and Yuzhnyy in Ukraine, on the Black Sea. The exports were handled by state export agency Soyuzagrochim, mainly under contract to West European traders and consumers in areas like Scandinavia and France.

  1. Phenotypic Dichotomy Following Developmental Exposure to ...

    EPA Pesticide Factsheets

    The synthetic surfactant, perfluorooctanoic acid (PFOA) is a proven developmental toxicant in mice, causing prenatal pregnancy loss, increased neonatal mortality, delayed eye opening, and abnormal mammary gland growth in animals exposed during fetal life. PFOA is found in the sera of wildlife and humans throughout the world, but is especially high in the sera of children. These studies in CD-1 mice aim to determine the latent health effects of PFOA following an in utero exposure, a developmental exposure followed by ovariectomy (ovx), or exposure as an adult. Mice were exposed to 0, 0.01, 0.1, 0.3, 1, 3, or 5 mg PFOA/kg BW for 17 days of pregnancy or as an adult. Body weight was reduced in the highest doses on postnatal day (PND) 1 and at weaning. However, the lowest exposures (0.01-0.3 mg/kg) induced excessive weight gain between 20-40 weeks, as well as a significant increase in serum leptin (0.01-0.1 mg/kg). Although body weight was significantly increased due to ovx, there was no longer a body weight effect of PFOA in ovx animals. Further, there was no effect of adult exposure to PFOA on body weight gain. At 18 months of age, the effects of PFOA on body weight were no longer detected. The white adipose tissue and spleen weights were decreased at high doses of PFOA in intact developmentally exposed mice, and spleen weight was reduced in ovx mice. But, brown adipose tissue weight was significantly increased in both ovx and intact mice at high doses. Liver weigh

  2. Neurobehavioral effects of developmental methylmercury exposure

    SciTech Connect

    Gilbert, S.G.; Grant-Webster, K.S.

    1995-09-01

    Methylmercury (MeHg) is a global environmental problem and is listed by the International Program of Chemical Safety as one of the six most dangerous chemicals in the world`s environment. Human exposure to MeHg primarily occurs through the consumption of contaminated food such as fish, although catastrophic exposures due to industrial pollution have occurred. The fetus is particularly sensitive to MeHg exposure and adverse effects on infant development have been associated with levels of exposure that result in few, if any, signs of maternal clinical illness or toxicity. High levels of prenatal exposure in humans result in neurobehavioral effects such as cerebral palsy and severe mental retardation. Prenatal exposure to MeHg in communities with chronic low-level exposure is related to decreased birthweight and early sensorimotor dysfunction such as delayed onset of walking. Neurobehavioral alterations have also been documented in studies with non human primates and rodents. Available information on the developmental neurotoxic effects of MeHg, particularly the neurobehavioral effects, indicates that the fetus and infant are more sensitive to adverse effects of MEHg. It is therefore recommended that pregnant women and women of childbearing age be strongly advised to limit their exposure to potential sources of MeHg. Based on results from human and animal studies on the developmental neurotoxic effects of methylmercury, the accepted reference dose should be lowered to 0.025 to 0.06 MeHg {mu}g/kg/day. Continued research on the neurotoxic effects associated with low level developmental exposure is needed. 107 refs., 3 tabs.

  3. Neurobehavioral effects of developmental methylmercury exposure.

    PubMed Central

    Gilbert, S G; Grant-Webster, K S

    1995-01-01

    Methylmercury (MeHg) is a global environmental problem and is listed by the International Program of Chemical Safety as one of the six most dangerous chemicals in the world's environment. Human exposure to MeHg primarily occurs through the consumption of contaminated food such as fish, although catastrophic exposures due to industrial pollution have occurred. The fetus is particularly sensitive to MeHg exposure and adverse effects on infant development have been associated with levels of exposure that result in few, if any, signs of maternal clinical illness or toxicity. High levels of prenatal exposure in humans result in neurobehavioral effects such as cerebral palsy and severe mental retardation. Prenatal exposure to MeHg in communities with chronic low-level exposure is related to decreased birthweight and early sensorimotor dysfunction such as delayed onset of walking. Neurobehavioral alterations have also been documented in studies with nonhuman primates and rodents. Available information on the developmental neurotoxic effects of MeHg, particularly the neurobehavioral effects, indicates that the fetus and infant are more sensitive to adverse effects of MeHg. It is therefore recommended that pregnant women and women of childbearing age be strongly advised to limit their exposure to potential sources of MeHg. Based on results from human and animal studies on the developmental neurotoxic effects of methylmercury, the accepted reference dose should be lowered to 0.025 to 0.06 MeHg microgram/kg/day. Continued research on the neurotoxic effects associated with low level developmental exposure is needed. PMID:8549462

  4. Developmental programming and hypertension

    PubMed Central

    Nuyt, Anne Monique; Alexander, Barbara T.

    2009-01-01

    Purpose of review There is a growing body of evidence linking adverse events or exposures during early life and adult-onset diseases. After important epidemiological studies from many parts of the world, research now focuses on mechanisms of organ dysfunction and on refining the understanding of the interaction between common elements of adverse perinatal conditions, such as nutrition, oxidants, and toxins exposures. This review will focus on advances in our comprehension of developmental programming of hypertension. Recent findings Recent studies have unraveled important mechanisms of oligonephronia and impaired renal function, altered vascular function and structure as well as sympathetic regulation of the cardiovascular system. Furthermore, interactions between prenatal insults and postnatal conditions are the subject of intensive research. Prematurity vs. intrauterine growth restriction modulate differently programming of high blood pressure. Along with antenatal exposure to glucocorticoids and imbalanced nutrition, a critical role for perinatal oxidative stress is emerging. Summary While the complexity of the interactions between antenatal and postnatal influences on adult blood pressure is increasingly recognized, the importance of postnatal life in (positively) modulating developmental programming offers the hope of a critical window of opportunity to reverse programming and prevent or reduce related adult-onset diseases. PMID:19434052

  5. Associations among Maternal Behavior, Delay of Gratification, and School Readiness across the Early Childhood Years

    ERIC Educational Resources Information Center

    Razza, Rachel A.; Raymond, Kimberly

    2013-01-01

    This study examined the developmental pathways from maternal behavior to school readiness within a sample of 1007 children, with a specific focus on the mediating role of delay of gratification (DoG). Maternal behavior across the first 36 months of age was explored as a predictor of children's DoG at 54 months as well as their behavioral and…

  6. Can Early Years Professionals Determine Which Preschoolers Have Comprehension Delays? A Comparison of Two Screening Tools

    ERIC Educational Resources Information Center

    Seager, Emily; Abbot-Smith, Kirsten

    2017-01-01

    Language comprehension delays in pre-schoolers are predictive of difficulties in a range of developmental domains. In England, early years practitioners are required to assess the language comprehension of 2-year-olds in their care. Many use a format based on the Early Years Foundation Stage Unique Child Communication Sheet (EYFS:UCCS) in which…

  7. Modeling delay in genetic networks: From delay birth-death processes to delay stochastic differential equations

    SciTech Connect

    Gupta, Chinmaya; López, José Manuel; Azencott, Robert; Ott, William; Bennett, Matthew R.; Josić, Krešimir

    2014-05-28

    Delay is an important and ubiquitous aspect of many biochemical processes. For example, delay plays a central role in the dynamics of genetic regulatory networks as it stems from the sequential assembly of first mRNA and then protein. Genetic regulatory networks are therefore frequently modeled as stochastic birth-death processes with delay. Here, we examine the relationship between delay birth-death processes and their appropriate approximating delay chemical Langevin equations. We prove a quantitative bound on the error between the pathwise realizations of these two processes. Our results hold for both fixed delay and distributed delay. Simulations demonstrate that the delay chemical Langevin approximation is accurate even at moderate system sizes. It captures dynamical features such as the oscillatory behavior in negative feedback circuits, cross-correlations between nodes in a network, and spatial and temporal information in two commonly studied motifs of metastability in biochemical systems. Overall, these results provide a foundation for using delay stochastic differential equations to approximate the dynamics of birth-death processes with delay.

  8. Ontogeny of septohippocampal modulation of delay eyeblink conditioning.

    PubMed

    Harmon, Thomas C; Freeman, John H

    2015-03-01

    The current study investigated the effects of disrupting the septohippocampal theta system on the developmental emergence of delay eyeblink conditioning. Theta oscillations are defined as electroencephalographic (EEG) waveforms with a frequency between 3-8 Hz. Hippocampal theta oscillations are generated by inputs from the entorhinal cortex and the medial septum. Theta activity has been shown to facilitate learning in a variety of paradigms, including delay eyeblink conditioning. Lesions of the medial septum disrupt theta activity and slow the rate at which delay eyeblink conditioning is learned (Berry & Thompson, [1979] Science 200:1298-1300). The role of the septohippocampal theta system in the ontogeny of eyeblink conditioning has not been examined. In the current study, infant rats received an electrolytic lesion of the medial septum on postnatal day (P) 12. Rats were later given eyeblink conditioning for 6 sessions with an auditory conditioned stimulus on P17-19, P21-23, or P24-26. Lesions impaired eyeblink conditioning on P21-23 and P24-26 but not on P17-19. The results suggest that the septohippocampal system comes online to facilitate acquisition of eyeblink conditioning between P19 and P21. Developmental changes in septohippocampal modulation of the cerebellum may play a significant role in the ontogeny of eyeblink conditioning.

  9. Time Delay of CGM Sensors

    PubMed Central

    Schmelzeisen-Redeker, Günther; Schoemaker, Michael; Kirchsteiger, Harald; Freckmann, Guido; Heinemann, Lutz; del Re, Luigi

    2015-01-01

    Background: Continuous glucose monitoring (CGM) is a powerful tool to support the optimization of glucose control of patients with diabetes. However, CGM systems measure glucose in interstitial fluid but not in blood. Rapid changes in one compartment are not accompanied by similar changes in the other, but follow with some delay. Such time delays hamper detection of, for example, hypoglycemic events. Our aim is to discuss the causes and extent of time delays and approaches to compensate for these. Methods: CGM data were obtained in a clinical study with 37 patients with a prototype glucose sensor. The study was divided into 5 phases over 2 years. In all, 8 patients participated in 2 phases separated by 8 months. A total number of 108 CGM data sets including raw signals were used for data analysis and were processed by statistical methods to obtain estimates of the time delay. Results: Overall mean (SD) time delay of the raw signals with respect to blood glucose was 9.5 (3.7) min, median was 9 min (interquartile range 4 min). Analysis of time delays observed in the same patients separated by 8 months suggests a patient dependent delay. No significant correlation was observed between delay and anamnestic or anthropometric data. The use of a prediction algorithm reduced the delay by 4 minutes on average. Conclusions: Prediction algorithms should be used to provide real-time CGM readings more consistent with simultaneous measurements by SMBG. Patient specificity may play an important role in improving prediction quality. PMID:26243773

  10. PRECISION TIME-DELAY CIRCUIT

    DOEpatents

    Creveling, R.

    1959-03-17

    A tine-delay circuit which produces a delay time in d. The circuit a capacitor, an te back resistance, connected serially with the anode of the diode going to ground. At the start of the time delay a negative stepfunction is applied to the series circuit and initiates a half-cycle transient oscillatory voltage terminated by a transient oscillatory voltage of substantially higher frequency. The output of the delay circuit is taken at the junction of the inductor and diode where a sudden voltage rise appears after the initiation of the higher frequency transient oscillations.

  11. Quantifying uncertainty from material inhomogeneity.

    SciTech Connect

    Battaile, Corbett Chandler; Emery, John M.; Brewer, Luke N.; Boyce, Brad Lee

    2009-09-01

    Most engineering materials are inherently inhomogeneous in their processing, internal structure, properties, and performance. Their properties are therefore statistical rather than deterministic. These inhomogeneities manifest across multiple length and time scales, leading to variabilities, i.e. statistical distributions, that are necessary to accurately describe each stage in the process-structure-properties hierarchy, and are ultimately the primary source of uncertainty in performance of the material and component. When localized events are responsible for component failure, or when component dimensions are on the order of microstructural features, this uncertainty is particularly important. For ultra-high reliability applications, the uncertainty is compounded by a lack of data describing the extremely rare events. Hands-on testing alone cannot supply sufficient data for this purpose. To date, there is no robust or coherent method to quantify this uncertainty so that it can be used in a predictive manner at the component length scale. The research presented in this report begins to address this lack of capability through a systematic study of the effects of microstructure on the strain concentration at a hole. To achieve the strain concentration, small circular holes (approximately 100 {micro}m in diameter) were machined into brass tensile specimens using a femto-second laser. The brass was annealed at 450 C, 600 C, and 800 C to produce three hole-to-grain size ratios of approximately 7, 1, and 1/7. Electron backscatter diffraction experiments were used to guide the construction of digital microstructures for finite element simulations of uniaxial tension. Digital image correlation experiments were used to qualitatively validate the numerical simulations. The simulations were performed iteratively to generate statistics describing the distribution of plastic strain at the hole in varying microstructural environments. In both the experiments and simulations, the

  12. Constructivist developmental theory is needed in developmental neuroscience

    NASA Astrophysics Data System (ADS)

    Arsalidou, Marie; Pascual-Leone, Juan

    2016-12-01

    Neuroscience techniques provide an open window previously unavailable to the origin of thoughts and actions in children. Developmental cognitive neuroscience is booming, and knowledge from human brain mapping is finding its way into education and pediatric practice. Promises of application in developmental cognitive neuroscience rests however on better theory-guided data interpretation. Massive amounts of neuroimaging data from children are being processed, yet published studies often do not frame their work within developmental models—in detriment, we believe, to progress in this field. Here we describe some core challenges in interpreting the data from developmental cognitive neuroscience, and advocate the use of constructivist developmental theories of human cognition with a neuroscience interpretation.

  13. Comparison of the validity of direct pediatric developmental evaluation versus developmental screening by parent report

    Technology Transfer Automated Retrieval System (TEKTRAN)

    To compare the validity of direct pediatric developmental evaluation with developmental screening by parent report, parents completed a developmental screen (the Child Development Review), a pediatrician performed a direct developmental evaluation (Capute Scales), and a psychologist administered the...

  14. The Role of Developmental Screening Practices in Early Diagnosis of Autism Spectrum Disorders: An Analysis of All-Payer Claims Data in New Hampshire

    ERIC Educational Resources Information Center

    Humphreys, Betsy P.

    2013-01-01

    Universal developmental screening during pediatric well child care detects early delays in development and is a critical gateway to early intervention for young children at risk for Autism Spectrum Disorders (ASD). Developmental screening practices are highly variable, and few studies have examined screening utilization for children at risk for…

  15. Holistic face training enhances face processing in developmental prosopagnosia

    PubMed Central

    Cohan, Sarah; Nakayama, Ken

    2014-01-01

    Prosopagnosia has largely been regarded as an untreatable disorder. However, recent case studies using cognitive training have shown that it is possible to enhance face recognition abilities in individuals with developmental prosopagnosia. Our goal was to determine if this approach could be effective in a larger population of developmental prosopagnosics. We trained 24 developmental prosopagnosics using a 3-week online face-training program targeting holistic face processing. Twelve subjects with developmental prosopagnosia were assessed before and after training, and the other 12 were assessed before and after a waiting period, they then performed the training, and were then assessed again. The assessments included measures of front-view face discrimination, face discrimination with view-point changes, measures of holistic face processing, and a 5-day diary to quantify potential real-world improvements. Compared with the waiting period, developmental prosopagnosics showed moderate but significant overall training-related improvements on measures of front-view face discrimination. Those who reached the more difficult levels of training (‘better’ trainees) showed the strongest improvements in front-view face discrimination and showed significantly increased holistic face processing to the point of being similar to that of unimpaired control subjects. Despite challenges in characterizing developmental prosopagnosics’ everyday face recognition and potential biases in self-report, results also showed modest but consistent self-reported diary improvements. In summary, we demonstrate that by using cognitive training that targets holistic processing, it is possible to enhance face perception across a group of developmental prosopagnosics and further suggest that those who improved the most on the training task received the greatest benefits. PMID:24691394

  16. Holistic face training enhances face processing in developmental prosopagnosia.

    PubMed

    DeGutis, Joseph; Cohan, Sarah; Nakayama, Ken

    2014-06-01

    Prosopagnosia has largely been regarded as an untreatable disorder. However, recent case studies using cognitive training have shown that it is possible to enhance face recognition abilities in individuals with developmental prosopagnosia. Our goal was to determine if this approach could be effective in a larger population of developmental prosopagnosics. We trained 24 developmental prosopagnosics using a 3-week online face-training program targeting holistic face processing. Twelve subjects with developmental prosopagnosia were assessed before and after training, and the other 12 were assessed before and after a waiting period, they then performed the training, and were then assessed again. The assessments included measures of front-view face discrimination, face discrimination with view-point changes, measures of holistic face processing, and a 5-day diary to quantify potential real-world improvements. Compared with the waiting period, developmental prosopagnosics showed moderate but significant overall training-related improvements on measures of front-view face discrimination. Those who reached the more difficult levels of training ('better' trainees) showed the strongest improvements in front-view face discrimination and showed significantly increased holistic face processing to the point of being similar to that of unimpaired control subjects. Despite challenges in characterizing developmental prosopagnosics' everyday face recognition and potential biases in self-report, results also showed modest but consistent self-reported diary improvements. In summary, we demonstrate that by using cognitive training that targets holistic processing, it is possible to enhance face perception across a group of developmental prosopagnosics and further suggest that those who improved the most on the training task received the greatest benefits.

  17. "Developmental Review's" Most Influential Articles

    ERIC Educational Resources Information Center

    Brainerd, C. J.

    2006-01-01

    "Developmental Review" is a journal of literature reviews and theoretical analyses for developmental scientists. During its first quarter-century of publication, the quality of those articles resulted in a journal whose level of impact on the scientific literature is extremely high, currently in the top 10% of all journals indexed by "Social…

  18. Developmental Math: What's the Answer?

    ERIC Educational Resources Information Center

    Cafarella, Brian

    2016-01-01

    Developmental mathematics has been under the radar within higher education for some time. The reality is that there are many proven best practices in developmental math. Unfortunately, there are many obstacles that prevent student success. Moreover, the high rates of attrition and failure have led state legislators and college administrators to…

  19. Developmental Sentence Scoring for Japanese

    ERIC Educational Resources Information Center

    Miyata, Susanne; MacWhinney, Brian; Otomo, Kiyoshi; Sirai, Hidetosi; Oshima-Takane, Yuriko; Hirakawa, Makiko; Shirai, Yasuhiro; Sugiura, Masatoshi; Itoh, Keiko

    2013-01-01

    This article reports on the development and use of the Developmental Sentence Scoring for Japanese (DSSJ), a new morpho-syntactical measure for Japanese constructed after the model of Lee's English Developmental Sentence Scoring model. Using this measure, the authors calculated DSSJ scores for 84 children divided into six age groups between 2;8…

  20. [Developmental Placement.] Collected Research References.

    ERIC Educational Resources Information Center

    Bjorklund, Gail

    Drawing on information and references in the ERIC system, this literature review describes research related to a child's developmental placement. The issues examined include school entrance age; predictive validity, reliability, and features of Gesell School Readiness Assessment; retention; and the effectiveness of developmental placement. A…