Science.gov

Sample records for quantify developmental delay

  1. Delaying Developmental Mathematics: The Characteristics and Costs

    ERIC Educational Resources Information Center

    Johnson, Marianne; Kuennen, Eric

    2004-01-01

    This paper investigates which students delay taking a required developmental mathematics course and the impact of delay on student performance in introductory microeconomics. Analysis of a sample of 1462 students at a large Midwestern university revealed that, although developmental-level mathematics students did not reach the same level of…

  2. 34 CFR 303.10 - Developmental delay.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 34 Education 2 2011-07-01 2010-07-01 true Developmental delay. 303.10 Section 303.10 Education Regulations of the Offices of the Department of Education (Continued) OFFICE OF SPECIAL EDUCATION AND... DISABILITIES General Purpose, Eligibility, and Other General Provisions § 303.10 Developmental delay. As...

  3. A Comparison of Motor Delays in Young Children: Autism Spectrum Disorder, Developmental Delay, and Developmental Concerns

    ERIC Educational Resources Information Center

    Provost, Beth; Lopez, Brian R.; Heimerl, Sandra

    2007-01-01

    This study assessed motor delay in young children 21-41 months of age with autism spectrum disorder (ASD), and compared motor scores in children with ASD to those of children without ASD. Fifty-six children (42 boys, 14 girls) were in three groups: children with ASD, children with developmental delay (DD), and children with developmental concerns…

  4. 34 CFR 303.10 - Developmental delay.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

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

  5. 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.

  6. A comparison of motor delays in young children: autism spectrum disorder, developmental delay, and developmental concerns.

    PubMed

    Provost, Beth; Lopez, Brian R; Heimerl, Sandra

    2007-02-01

    This study assessed motor delay in young children 21-41 months of age with autism spectrum disorder (ASD), and compared motor scores in children with ASD to those of children without ASD. Fifty-six children (42 boys, 14 girls) were in three groups: children with ASD, children with developmental delay (DD), and children with developmental concerns without motor delay. Descriptive analysis showed all children with ASD had delays in gross motor skills, fine motor skills, or both. Children with ASD and children with DD showed significant impairments in motor development compared to children who had developmental concerns without motor delay. Motor scores of young children with ASD did not differ significantly on motor skill measures when compared to young children with DD.

  7. Developmental delays and autism: Screening and surveillance.

    PubMed

    Delahunty, Carol

    2015-11-01

    Screening and surveillance are crucial components to the early detection of developmental disorders in children, which enables early interventions that provide the best chances for improved outcomes. Identifying a developmental disorder is the initial step in evaluating the disorder. Surveillance is a flexible, continuous, longitudinal process aimed at identifying concerns, and it should be performed at every well-child visit. Screening involves administering a brief, standardized tool normalized for specific ages and stages of development to identify any developmental delays or specific concerns such as autism. Screening is recommended at every office visit and whenever a parent expresses a concern. Two general types of screening tests are available: problem-specific screening and broadband developmental screening. For each type, there are multiple different tests available that can be administered by a parent or a health care provider. Factors to consider in the test selection are the age range for which it is intended, time it takes to complete and score, cost, whether the test is paper-based or electronic, and the language availability.

  8. Emplotting children's lives: developmental delay vs. disability.

    PubMed

    Landsman, Gail

    2003-05-01

    While it is increasingly possible to envision "perfect" babies, it is not always the case that reproduction actually proceeds according to individual will; for example, there has been no recent reduction in rates of childhood disability. Nevertheless, in most studies of new reproductive technologies, the birth of those children whom few would actively choose-"defective" or disabled infants-is presented only in hypothetical terms. This paper argues for expanding the domain of reproduction to include research on the parenting of children with disabilities. Based on a qualitative research project carried out at a hospital-based newborn follow-up program that serves as an evaluation site determining eligibility for early intervention services for infants and young children with disabilities, this paper focuses on a particular part of women's experience of acquiring new knowledge about personhood and disability, that is, on the period of time when a woman has recently had confirmed that reproduction has, in her case, gone awry. Disability in many cultures, including the United States, diminishes personhood. I suggest that American mothers' narratives, by utilizing the concept of developmental delay, can assert personhood, or rather, the potential for its future attainment; in doing so, they justify ongoing nurturance of a disabled child in spite of negative attitudes about disability. A particular case of one mother's emplotment of her child's life within a story of developmental delay, in competition with the physician's story of disability, is analyzed. The paper concludes with reflections on how stories of developmental delay told by mothers just encountering a diagnosis of disability may differ from the stories told by those who have experienced mothering a disabled child over time, and on the implications of these differences for the cultural construction of personhood in the United States. PMID:12650731

  9. Global Developmental Delay and Its Relationship to Cognitive Skills

    ERIC Educational Resources Information Center

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

    2009-01-01

    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…

  10. Toddler Developmental Delays After Extensive Hospitalization: Primary Care Practitioner Guidelines.

    PubMed

    Lehner, Dana C; Sadler, Lois S

    2015-01-01

    This review investigated developmental delays toddlers may encounter after a lengthy pediatric hospitalization (30 days or greater). Physical, motor, cognitive, and psychosocial development of children aged 1 to 3 years was reviewed to raise awareness of factors associated with developmental delay after extensive hospitalization. Findings from the literature suggest that neonatal and pediatric intensive care unit (NICU/PICU) graduates are most at risk for developmental delays, but even non-critical hospital stays interrupt development to some extent. Primary care practitioners (PCPs) may be able to minimize risk for delays through the use of formal developmental screening tests and parent report surveys. References and resources are described for developmental assessment to help clinicians recognize delays and to educate families about optimal toddler development interventions. Pediatric PCPs play a leading role in coordinating health and developmental services for the young child following an extensive hospital stay. PMID:26665423

  11. Neuropsychological Testing of Developmentally Delayed Young Children: Problems and Progress.

    ERIC Educational Resources Information Center

    Stone, Nancy W.; Levin, Harvey S.

    1979-01-01

    The study involving 13 developmentally delayed children (36-66 months old) was conducted to determine the applicability of the Peabody Picture Vocabulary Test, the Motor Impersistence Test, Graphesthesia Test, and Stereognosis-Tactile Test with developmentally delayed infants and preschoolers. (SBH)

  12. Measuring Representative Communication in Young Children with Developmental Delay

    PubMed Central

    Yoder, Paul

    2014-01-01

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

  13. Early developmental delays: neuropsychological sequelae and subsequent diagnoses.

    PubMed

    Perna, Robert; Loughan, Ashlee

    2012-01-01

    Developmental delay is a frequent diagnosis given to young children when developmental milestones are not met in an age-expected time frame. Research on early delays in speech and motor milestones is unclear regarding possible long-term cognitive functioning. The purpose of this study was to investigate the neuropsychological profile of children who suffered early developmental delays in speech or motor function. Participants (N = 60) completed the Wechsler Intelligence Scale for Children-Fourth Edition, Wechsler Individual Achievement Test-Second Edition, Wisconsin Card-Sorting Test, Children's Memory Test (CMT), the Delis-Kaplan Executive Function System, and the Child Behavior Checklist/Youth Self-Report. The Delay group had a significantly lower Full-Scale IQ (FSIQ), and when controlling for IQ (analysis of covariance), the Delay group had significantly lower scores on measures of immediate and delayed visual memory skills (CMT). Group scores were not significantly different for any other tests. Neither group had any test scores significantly below FSIQ, a finding suggesting developmental delays may subsequently lead to weaknesses but not impairments. Results appear to support the resiliency of the young brain. Chi-square analysis showed the Delay group was more likely to subsequently be diagnosed with attention-deficit hyperactivity disorder (ADHD) but not learning disorders. Data appear to suggest that early developmental delays may place children as risk for ADHD and perhaps visual memory weaknesses, though not clear impairments. PMID:23428279

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

    PubMed Central

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

    2015-01-01

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

  15. Influences on Maternal Responsiveness to Developmentally Delayed Preschoolers.

    ERIC Educational Resources Information Center

    Lojkasek, Mirek; And Others

    1990-01-01

    Evaluation of maternal responsiveness of 109 preschoolers with disabilities (Down Syndrome, neurological impairment, and developmental delay) in free play situations found that parental age, mother's support, and child responsiveness contributed to maternal responsiveness. (Author/DB)

  16. 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

  17. 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.

  18. 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.

  19. Global developmental delay with sodium valproate-induced gingival hyperplasia.

    PubMed

    Patil, Ravi B; Urs, Pallavi; Kiran, Shital; Bargale, Seema Dinesh

    2014-01-01

    Global developmental delay (GDD) refers to a disturbance in an individual child across one or more developmental domains, which include motor, cognition, daily activities, speech and language. The present case discusses a 5-year-old child with GDD associated with infantile spasms treated with sodium valproate. Delay in the widespread acquisition of skills, epilepsy and poor oral hygiene with gingival enlargement was the main concern to seek medical aid. This case is special as the child was suffering from GDD associated with sodium valproate-induced gingival enlargement.

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

    ERIC Educational Resources Information Center

    Paczkowski, Emilie; Baker, Bruce L.

    2008-01-01

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

  1. 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.

  2. Ocular manifestations in children with developmental delay preliminary report.

    PubMed

    Wu, H J; Tsai, R K

    2000-08-01

    To investigate systemic diseases and ocular problems among children with developmental delay, forty-one children (28 boys and 13 girls with a mean age of 3.53 +/- 2.25 y/o) were enrolled in this study. In addition to ocular examinations, we used centrality, steadiness, fixation and flash visual evoked potentials (VEPs) tests on all of the children. We found that 23 children (56.10%) had ocular problems with optic atrophy and strabismus being the two most common ocular abnormalities. The two major clinical manifestations of developmentally delayed children were mental and motor retardation. The primary test of centrality, steadiness and fixation and visual evoked potentials could be useful tools in evaluating the visual pathway and ocular motility. Preliminary results showed that more than half of the children with developmental delay had certain ocular abnormalities. The high incidence of ocular abnormalities deserves careful attention when these children are brought to seek medical help. Further study of ocular problems among developmentally delayed children and a search for more reliable examination method should be encouraged. PMID:11221546

  3. 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…

  4. Developmental Delay: Establishing Parameters for a Preschool Category of Exceptionality.

    ERIC Educational Resources Information Center

    McLean, Mary; And Others

    This position paper addresses the creation of a new category of eligibility for services under the Individuals with Disabilities Education Act, "Developmental Delay," which would only be applicable to children ages 3 to 5. Such a classification would address concerns about labeling young children, lack of confidence in assessment procedures for…

  5. Tracking Preschool Children with Developmental Delay: Third Grade Outcomes

    ERIC Educational Resources Information Center

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

    2006-01-01

    Educational outcomes were evaluated for 2,046 preschool children identified with developmental delay. Results indicated that at third grade, 26% were in regular education and the remaining 74% were receiving special education services. The most common disability classifications at outcome were specific learning disabilities and educable mentally…

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

    ERIC Educational Resources Information Center

    Miller, Leon K.

    1987-01-01

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

  7. 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…

  8. 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…

  9. The Acquisition of Generalized Matching in Children with Developmental Delays

    ERIC Educational Resources Information Center

    Gaisford, Kristen L.; Malott, Richard W.

    2010-01-01

    The purpose of this study was to assess the extent of a generalized matching repertoire. Three children, ranging from two to four years of age, were selected from an early childhood developmental delay classroom. They were taught identical matching with six objects. After the children mastered those six objects, they were tested for a generalized…

  10. Training Parents of Developmentally Delayed Children in Rural Areas.

    ERIC Educational Resources Information Center

    Hedge, Russell E.; Johnson, Willard L.

    The report describes the program philosophy and accomplishments over the past decade of the Infant and Early Childhood Intervention Program (IECIP) of the Kansas University Affiliated Program (KUAP) at Parsons, Kansas, which has focused solely on delivering information and training to parents of developmentally delayed children. Topics discussed…

  11. Progress toward Developing a Definition for Developmentally Delayed: Report #2.

    ERIC Educational Resources Information Center

    Harbin, Gloria L.; Maxwell, Kelly

    This report describes states' eligibility policies for developmentally delayed and at-risk children, aged birth to 3 years to be served under Part H of the Individuals with Disabilities Education Act (IDEA). The report is based on policy analysis of 49 states' eligibility policy documents. Results indicated that the wording in states' definitions…

  12. Developmental delays at arrival and postmenarcheal Chinese adolescents' adjustment.

    PubMed

    Tan, Tony X; Rice, Jessica L; Mahoney, E Emily

    2015-01-01

    Internationally adopted (IA) children often have delays at adoption and undergo massive catch-up after adoption. Before achieving developmental catch-up, however, delays at adoption present a risk for IA children's adjustment, but it remains unknown whether such delays foreshadow IA children's outcomes after catch-up development has completed or ceased. In the current analysis, we utilized menarche as a practical marker to indicate the cessation of developmental catch-up. We investigated how delays at arrival predicted long-term outcomes in 132 postmenarcheal teens (M = 14.2 years, SD = 1.7) who were adopted from China at 16.6 months (SD = 17.1). In 2005, adoptive parents provided data of medical evaluation results on their children's delay status in gross motor skills, fine motor skills, social development, emotional development, and cognitive development. Six years later in 2011, data on parent-child relationship quality were collected from parents, and data on the adoptees' academic competence and internalizing problems were also collected from both parents and adoptees. We found that gross motor delay at arrival predicted academic performance (parent-report: b = -.34, p < .01) and internalizing problems (self-report: b = .26, p < .05; parent-report: b = .33, p < .01). Other delays were not significant in predicting any of the outcomes. The impact of early nutritional deprivation on gross motor development was discussed.

  13. Entry behavior and emotion regulation abilities of developmentally delayed boys.

    PubMed

    Wilson, B J

    1999-01-01

    This study investigated the social deficits of developmentally delayed children. Participants were 48 five-year-old to eight-year-old boys. Delayed children (n = 20) were compared with nondelayed children of similar chronological age (CA nondelayed; n = 20) and of similar mental age (n = 8). The behavior and emotion regulation strategies of participants were assessed in an analogue entry situation. Delayed children were just as able as nondelayed children to understand the play themes of others but were more intrusive in delivering their entry attempts. Delayed children appeared to have less effective emotion regulation strategies for coping with entry failure and were more likely to increase their use of disruptive entry strategies over time than CA nondelayed children. PMID:9923476

  14. A Copy Number Variation Morbidity Map of Developmental Delay

    PubMed Central

    Cooper, Gregory M.; Coe, Bradley P.; Girirajan, Santhosh; Rosenfeld, Jill A.; Vu, Tiffany; Baker, Carl; Williams, Charles; Stalker, Heather; Hamid, Rizwan; Hannig, Vickie; Abdel-Hamid, Hoda; Bader, Patricia; McCracken, Elizabeth; Niyazov, Dmitriy; Leppig, Kathleen; Thiese, Heidi; Hummel, Marybeth; Alexander, Nora; Gorski, Jerome; Kussmann, Jennifer; Shashi, Vandana; Johnson, Krys; Rehder, Catherine; Ballif, Blake C.; Shaffer, Lisa G.; Eichler, Evan E.

    2011-01-01

    To understand the genetic heterogeneity underlying developmental delay, we compare copy-number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects to 8,329 adult controls. We estimate that ~14.2% of disease in these individuals is due to large CNVs > 400 kbp. We find greater CNV enrichment in patients with craniofacial anomalies and cardiovascular defects than epilepsy or autism. We identify 59 pathogenic CNVs including 14 novel or previously weakly supported candidates. We refine the critical interval for several genomic disorders such as the 17q21.31 microdeletion syndrome and identify 940 candidate dosage-sensitive genes. We also develop methods to opportunistically discover small, disruptive CNVs within the large and growing diagnostic array datasets. This evolving CNV morbidity map combined with exome/genome sequencing will be critical for deciphering the genetic basis of developmental delay, intellectual disability, and autism spectrum disorders. PMID:21841781

  15. 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

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

    PubMed

    Paczkowski, Emilie; Baker, Bruce L

    2008-07-01

    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

  17. 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…

  18. Developmental Aspects of Suicidal Behavior in Children and Developmentally Delayed Adolescents.

    ERIC Educational Resources Information Center

    Carlson, Gabrielle A.; And Others

    1994-01-01

    Examined the relationship between depression rates, IQ, knowledge of the finality of death, exposure to suicidal behavior and knowledge of suicide methods. Found that the effect of these factors differed between suicidal and nonsuicidal psychiatrically hospitalized children and developmentally delayed adolescents. Also found that the factors had…

  19. Assessment of developmental delay in the zebrafish embryo teratogenicity assay.

    PubMed

    Teixidó, E; Piqué, E; Gómez-Catalán, J; Llobet, J M

    2013-02-01

    In this study we analyzed some aspects of the assessment of developmental delay in the zebrafish embryotoxicity/teratogenicity test and explored the suitability of acetylcholinesterase (AChE) activity as a biochemical marker and as a higher throughput alternative to morphological endpoints such as head-trunk angle, tail length and morphological score. Embryos were exposed from 4 to 52 h post-fertilization (hpf) to a selection of known embryotoxic/teratogen compounds (valproic acid, retinoic acid, caffeine, sodium salicylate, glucose, hydroxyurea, methoxyacetic acid, boric acid and paraoxon-methyl) over a concentration range. They were evaluated for AChE activity, head-trunk angle, tail length and several qualitative parameters integrated in a morphological score. In general, the different patterns of the concentration-response curves allowed distinguishing between chemicals that produced growth retardation (valproic and methoxyacetic acid) and chemicals that produced non-growth-delay related malformations. An acceptable correlation between the morphological score, AChE activity and head-trunk angle as markers of developmental delay was observed, being AChE activity particularly sensitive to detect delay in the absence of malformations. PMID:22898132

  20. Perinatal reduction of functional serotonin transporters results in developmental delay.

    PubMed

    Kroeze, Yvet; Dirven, Bart; Janssen, Stefan; Kröhnke, Marijke; Barte, Ramona M; Middelman, Anthonieke; van Bokhoven, Hans; Zhou, Huiqing; Homberg, Judith R

    2016-10-01

    While there is strong evidence from rodent and human studies that a reduction in serotonin transporter (5-HTT) function in early-life can increase the risk for several neuropsychiatric disorders in adulthood, the effects of reduced 5-HTT function on behavior across developmental stages are underinvestigated. To elucidate how perinatal pharmacological and lifelong genetic inactivation of the 5-HTT affects behavior across development, we conducted a battery of behavioral tests in rats perinatally exposed to fluoxetine or vehicle and in 5-HTT(-/-) versus 5-HTT(+/+) rats. We measured motor-related behavior, olfactory function, grooming behavior, sensorimotor gating, object directed behavior and novel object recognition in the first three postnatal weeks and if possible the tests were repeated in adolescence and adulthood. We also measured developmental milestones such as eye opening, reflex development and body weight. We observed that both pharmacological and genetic inactivation of 5-HTT resulted in a developmental delay. Except for hypo-locomotion, most of the observed early-life effects were normalized later in life. In adolescence and adulthood we observed object directed behavior and decreased novel object recognition in the 5-HTT(-/-) rats, which might be related to the lifelong inactivation of 5-HTT. Together, these data provide an important contribution to the understanding of the effects of perinatal and lifelong 5-HTT inactivation on behavior across developmental stages. PMID:27208789

  1. Comparison of Constant Time Delay and the System of Least Prompts in Teaching Preschoolers with Developmental Delays.

    ERIC Educational Resources Information Center

    Doyle, Patricia; And Others

    1990-01-01

    The study compared the effectiveness and efficiency of constant time delay and the system of least prompts in teaching sight words to three developmentally delayed preschoolers. Results indicated that the constant time delay procedure resulted in fewer total trials, errors, percent of errors, and minutes of direct instructional time. (Author/DB)

  2. Unraveling the "new morbidity": adolescent parenting and developmental delays.

    PubMed

    Borkowski, J G; Whitman, T L; Passino, A W; Rellinger, E A; Sommer, K; Keogh, D

    1992-01-01

    Baumeister's concept of the "new morbidity" pertains to the linkages between poverty, adolescent mothers, and a series of developmental delays in their children. Outlined are three possible causes of the mild mental retardation and learning disabilities that are found disproportionately among the offspring of adolescents. First, there may be a direct genetic transmission of mild mental retardation. Second, adolescent mothers are likely to have a lack of support from a social network, be unprepared cognitively and emotionally to assume responsibility for child rearing, and to look to an infant to meet their own needs. Third, the interaction of genetic and environmental deficits leads to a parenting style that deprives the child of stimulation that could potentially overcome these deficits. A secure mother-infant attachment relationship provides the foundation for the development of social, emotional, attentional, and self-regulatory processes. When this attachment relationship is insecure, as a result of the mother's unreadiness to parent, the child cannot proceed to exploration of the environment--a critical component of cognitive development. If the infant has a difficult temperament, the risk of physical and emotional abuse increases, further compromising the child's future development. By 3 years of age, many of these children are showing declines in mental functioning, delays in receptive language skills, and poor motor and social skills. Research is urged to identify events in this chain that can be targeted for early intervention. PMID:12319317

  3. Unraveling the "new morbidity": adolescent parenting and developmental delays.

    PubMed

    Borkowski, J G; Whitman, T L; Passino, A W; Rellinger, E A; Sommer, K; Keogh, D

    1992-01-01

    Baumeister's concept of the "new morbidity" pertains to the linkages between poverty, adolescent mothers, and a series of developmental delays in their children. Outlined are three possible causes of the mild mental retardation and learning disabilities that are found disproportionately among the offspring of adolescents. First, there may be a direct genetic transmission of mild mental retardation. Second, adolescent mothers are likely to have a lack of support from a social network, be unprepared cognitively and emotionally to assume responsibility for child rearing, and to look to an infant to meet their own needs. Third, the interaction of genetic and environmental deficits leads to a parenting style that deprives the child of stimulation that could potentially overcome these deficits. A secure mother-infant attachment relationship provides the foundation for the development of social, emotional, attentional, and self-regulatory processes. When this attachment relationship is insecure, as a result of the mother's unreadiness to parent, the child cannot proceed to exploration of the environment--a critical component of cognitive development. If the infant has a difficult temperament, the risk of physical and emotional abuse increases, further compromising the child's future development. By 3 years of age, many of these children are showing declines in mental functioning, delays in receptive language skills, and poor motor and social skills. Research is urged to identify events in this chain that can be targeted for early intervention.

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  5. 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.…

  6. 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…

  7. 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.

  8. 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

  9. Metabolic evaluation of children with global developmental delay

    PubMed Central

    Hahn, Si Houn

    2015-01-01

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

  10. Microscopy tools for quantifying developmental dynamics in Xenopus embryos

    PubMed Central

    Joshi, Sagar D.; Kim, Hye Young; Davidson, Lance A.

    2013-01-01

    Summary Early Xenopus embryos, and embryonic tissues isolated from them, are excellent model systems to study morphogenesis. Cells migrate, change shape and differentiate to form new tissues as embryos mature and recapitulate those same processes in tissue isolates. Both large-scale and small-scale cell and tissue movements can be visualized with a range of microscopy techniques. Furthermore, protein dynamics, fine scale cell movements, and changes in cell morphology can be observed simultaneously as multi-cellular structures are sculpted. We provide an overview of complementary methods for visualizing macroscopic tissue movements, cell shape changes and sub-cellular protein dynamics. Time-lapse imaging followed by quantitative image analysis aims to provide answers to some of the long standing questions in developmental biology: How do tissues form? How do cells acquire specific shapes? How do proteins localize to specific positions? To address these questions we suggest strategies 1) to visualize whole embryos and tissue isolates using stereoscopes and epifluorescence imaging techniques, and 2) to visualize cell shapes and protein expression using high resolution live imaging using confocal microscopy. These imaging approaches along with simple image analysis tools provide us with ways to understand the complex biology underlying morphogenesis. PMID:22956105

  11. Evaluation of the Affymetrix CytoScan® Dx Assay for Developmental Delay

    PubMed Central

    Webb, Bryn D.; Scharf, Rebecca J.; Spear, Emily A.; Edelmann, Lisa J.; Stroustrup, Annemarie

    2015-01-01

    The goal of molecular cytogenetic testing for children presenting with developmental delay is to identify or exclude genetic abnormalities that are associated with cognitive, behavioral, and/or motor symptoms. Until 2010, chromosome analysis was the standard first-line genetic screening test for evaluation of patients with developmental delay when a specific syndrome was not suspected. In 2010, The American College of Medical Genetics and several other groups recommended chromosomal microarray (CMA) as the first-line test in children with developmental delays, multiple congenital anomalies, and/or autism. This test is able to detect regions of genomic imbalances at a much finer resolution than G-banded karyotyping. Until recently, no CMA testing had been approved by the United States Food and Drug Administration (FDA). This review will focus on the use of the Affymetrix CytoScan® Dx Assay, the first CMA to receive FDA approval for the genetic evaluation of individuals with developmental delay. PMID:25350348

  12. 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…

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

    EPA Science Inventory

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

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

    PubMed

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

    2014-07-01

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

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

    PubMed

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

    2014-07-01

    Environmental exposure to lead or mercury can cause neurodevelopmental damage. Arsenic is another neurotoxicant that can affect intellectual function in children. This study was designed to explore the difference of arsenic methylation capacity indices between with and without developmental delay in preschool children. We also aimed to identify whether blood levels of lead or mercury modify the effect of arsenic methylation capacity indices. A cross sectional study was conducted from August 2010 to March 2012. All participants recruited from the Shin Kong Wu Ho-Su Memorial Teaching Hospital. In all, 63 children with developmental delay and 35 children without developmental delay were recruited. Urinary arsenic species, including arsenite (As(III)), arsenate (As(V)), monomethylarsonic acid (MMA(V)) and dimethylarsinic acid (DMA(V)) were measured with a high-performance liquid chromatography-linked hydride generator and atomic absorption spectrometry. Lead and mercury levels of red blood cells were measured by inductively coupled mass spectrometry. All participants underwent developmental assessments to confirm developmental delays, including evaluations of gross motor, fine motor, speech-language, cognition, social, and emotional domains. Urinary total arsenic and MMA(V) percentage were significantly positively associated and DMA(V) percentage was negatively associated with the risk of developmental delay in a dose-dependent manner after adjustment for blood lead or mercury levels and other risk factors. A multivariate regression analysis indicated that blood lead level and arsenic methylation capacity each independently contributed to the risk of developmental delay. This is the first study to show that arsenic methylation capacity is associated with developmental delay, even without obvious environmental arsenic exposure. PMID:24698386

  16. 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…

  17. 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…

  18. Social responsivity: judging signals of young children with and without developmental delays.

    PubMed

    Walden, T A

    1996-10-01

    This was an experimental study of the ability of adults to detect 1 social signal that is important in social interactions, children's glances or looks at their social partners. Adult judges were either parents of children with developmental delays, parents of nondelayed children, or nonparents with little experience with children. Each participant viewed 120 videotaped episode in which very young children's looks (of 2 types, either a focus on parent's face or nonface focus) occurred or no looking occurred. Half the episodes featured children with documented developmental delays and half featured nondelayed children. Participants made judgments about the occurrence of a look in each episode and rated their confidence in each judgment. Participants made more accurate and quicker responses to social looks by children without than those with developmental delays. Accuracy effects were qualified by interactions with type of look. Participants were more confident of their judgments of looks for nondelayed toddlers than those with delays. Signal detection statistics indicated that looks of delayed toddlers were harder to identify and that judges set a more stringent criterion for responding to those looks. No effects of judges' level of experience with delayed or nondelayed children were found. Implications of these findings for social interaction involving individuals with developmental delays are discussed. PMID:9022230

  19. Magnetic Resonance Imaging (MRI) Evaluation of Developmental Delay in Pediatric Patients

    PubMed Central

    Syed, Naziya P.; Murthy, G.S.N.; Nori, Madhavi; Abkari, Anand; Pooja, B.K.; Venkateswarlu, J.

    2015-01-01

    Introduction: Developmental delay is defined as significant delay in one or more developmental domains. Magnetic Resonance Imaging (MRI) is the best modality to investigate such patients. Evaluation of a child with developmental delay is important not only because it allows early diagnosis and treatment but also helpful for parental counseling regarding the outcome of their child and to identify any possible risk of recurrence in the siblings. Thus this study was undertaken to evaluate the developmental delay in Indian children which will help the clinicians in providing an estimation of the child’s ultimate developmental potential and organize specific treatment requirement and also relieve parental apprehension. Aims and Objectives: To study the prevalence of normal and abnormal MRI in pediatric patients presenting with developmental delay and further categorize the abnormal MRI based on its morphological features. Materials and Methods: It is a prospective, observational & descriptive study of MRI Brain in 81 paediatric patients (46 Males and 35 Females), aged between three months to 12 years; presenting with developmental delay in Deccan College of Medical Sciences, Hyderabad; over a period of three years (Sept 2011 to Sept 2014). MRI brain was done on 1.5T Siemens Magnetom Essenza & 0.35T Magnetom C with appropriate sequences and planes after making the child sleep/sedated/ anesthetized. Various anatomical structures like Ventricles, Corpus callosum, etc were systematically assessed. The MRI findings were divided into various aetiological subgroups. Results: Normal MRI findings were seen in 32% cases and 68% had abnormal findings of which the proportion of Traumatic/ Neurovascular Diseases, Congenital & Developmental, Metabolic and Degenerative, neoplastic and non specific were 31%, 17%, 10%, 2.5% and 7.5% respectively. The ventricles and white matter mainly the corpus callosum were the most commonly affected anatomical structures. The diagnostic yield was

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

    PubMed

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

    2016-10-01

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

  1. 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

  2. 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)

  3. 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…

  4. 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,…

  5. Sleep problems and early developmental delay: implications for early intervention programs.

    PubMed

    Bonuck, Karen; Grant, Roy

    2012-02-01

    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 types are difficulties initiating or maintaining sleep and sleep disordered breathing. To date, attention has been focused on sleep problems in children with specific conditions (e.g., autism, genetic syndromes, prematurity, and seizure disorder). The authors review evidence of sleep problems' broader impact across the range of children screened for early intervention. Eligibility evaluations for early intervention address the five developmental domains: adaptive, motor, cognitive, communication, and socioemotional. Disordered sleep may be symptomatic of socioemotional and adaptive problems. Assessing sleep problems within the evaluation may help establish eligibility for early intervention services and would maximize developmental potential by ensuring timely identification, referral, and treatment.

  6. [Effect of early intervention on the interaction of developmentally delayed infants and their mothers].

    PubMed

    Chen, Y J; Chu, H H

    1995-12-01

    The purpose of this study was (1) to examine the interaction patterns of mothers and their developmentally delayed infants during free play and instructional episodes; (2) to investigate the influence of an early intervention program on the interaction patterns of mothers and their developmentally delayed infants; and (3) to investigate to what extent the maternal perceptions and expectations, perceived stress and involving motivation were associated with maternal behavior while interacting with their developmentally delayed infants. The participants of this study were twenty-one developmentally delayed infants and their mothers. Each mother-child dyad was videotaped in a laboratory playroom for 10-minutes of free play and a 5-minute instructional session. Mental and psychomotor development of the child were measured by Bayley scale. The perception of child development, expectation, and the stress of mothers were measured by a self-report questionnaire which was designed by a researcher in this study. The mothers' motivation of involvement was evaluated by teachers. On year after early intervention, it was found that (1) developmentally delayed infants increased locomotion, (2) mothers demonstrated more positive emotional expression during mother-child interaction, and (3) the score of HOME, mother's involvement, and the quality of mother-child interaction which was evaluated by teachers were significantly increased. Furthermore, the differences between situations indicated that the developmentally delayed infants were more toy-oriented during play than instruction. The mothers tended to be more helpful in attitude while they instructed their children. The mother's perception of child development and stress were found to be the critical factors affecting maternal teaching, controlling, and caring behavior. PMID:8551531

  7. Measuring Representative Communication in Young Children with Developmental Delay

    ERIC Educational Resources Information Center

    Sandbank, Micheal; 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…

  8. 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

  9. Trajectories of Developmental Functioning Among Children of Adolescent Mothers: Factors Associated With Risk for Delay.

    PubMed

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

    2016-07-01

    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 adolescent mothers (N = 204). Three distinct groups emerged: (a) a Delayed/Decreasing Functioning group, (b) an At-Risk/Recovering Functioning group, and (c) a Normative/Stable Functioning group. Children with Delayed/Decreasing Functioning were more likely than those with Normative/Stable Functioning to have families with lower income, fewer learning materials at home, and adolescent mothers with more depressive symptoms and greater coparental conflict with adolescents' mother figures. The results contribute to knowledge about factors associated with risk of delay. PMID:27351701

  10. Trajectories of Developmental Functioning Among Children of Adolescent Mothers: Factors Associated With Risk for Delay.

    PubMed

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

    2016-07-01

    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 adolescent mothers (N = 204). Three distinct groups emerged: (a) a Delayed/Decreasing Functioning group, (b) an At-Risk/Recovering Functioning group, and (c) a Normative/Stable Functioning group. Children with Delayed/Decreasing Functioning were more likely than those with Normative/Stable Functioning to have families with lower income, fewer learning materials at home, and adolescent mothers with more depressive symptoms and greater coparental conflict with adolescents' mother figures. The results contribute to knowledge about factors associated with risk of delay.

  11. Individuals with developmental delay and problematic sexual behaviors.

    PubMed

    Lindsay, William R; Michie, Amanda M

    2013-04-01

    The field of sex offenders with intellectual and developmental disabilities (IDD) has attracted a significant amount of research in the last 5 to 10 years. This research has included theoretical work on the reasons why men with IDD might engage in problematic sexual behaviours, work on the assessment of risk for future incidents, research investigating the pathways into and through services for sex offenders with IDD and a considerable amount of work developing and evaluating effective treatments. This paper will review the recent research on each of these areas in turn. PMID:23471782

  12. 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)…

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

    ERIC Educational Resources Information Center

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

    2010-01-01

    This study characterized early language abilities in toddlers with autism spectrum disorders (n = 257) using multiple measures of language development, compared to toddlers with non-spectrum developmental delay (DD, n = 69). Findings indicated moderate to high degrees of agreement among three assessment measures (one parent report and two direct…

  14. 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…

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

    ERIC Educational Resources Information Center

    Gruber, Deborah J.; Poulson, Claire L.

    2016-01-01

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

  16. 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…

  17. 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)

  18. 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.

  19. Parent Training in Groups: Pilot Study with Parents of Infants with Developmental Delay.

    ERIC Educational Resources Information Center

    Niccols, Alison; Mohamed, Shaheen

    2000-01-01

    Parents actively learned skills in sensitive responding to infant cues in an 8-week training group for parents of infants with developmental delay. Comparison of 12 participants and 5 controls on self-report pre-test/post-test measures indicated the intervention resulted in decreases in dysfunctional parent-child interactions, parental distress,…

  20. 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…

  1. 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…

  2. 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…

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  4. "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…

  5. Children with Developmental Delays Twenty Years Later: Where Are They? How Are They?

    ERIC Educational Resources Information Center

    Keogh, Barbara K.; Bernheimer, Lucinda P.; Guthrie, Donald

    2004-01-01

    Data from parents and young adults were collected as part of a 20-year follow-up of children with developmental delays who had been identified at age 3 years. The young adults and their parents provided information through questionnaires and personal interviews. Findings documented a broad range of outcomes, with some young adults leading…

  6. 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…

  7. 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…

  8. Paternal versus Maternal Coping Styles with Child Diagnosis of Developmental Delay

    ERIC Educational Resources Information Center

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

    2013-01-01

    Parents of children with disabilities vary in their reaction to their children's diagnosis. The current study focused on fathers in addition to mothers and examined their resolution and coping styles when having children diagnosed with developmental delay (DD). Sixty-five fathers and 71 mothers were interviewed using the reaction to the diagnosis…

  9. 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…

  10. 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…

  11. Effects of Vestibular Stimulation on Motor Development and Stereotyped Behavior of Developmentally Delayed Children.

    ERIC Educational Resources Information Center

    MacLean, William E., Jr.; Baumeister, Alfred A.

    1982-01-01

    Four developmentally delayed babies were given semicircular canal stimulation in an effort to facilitate their motor and reflex development. All of the children showed motor and/or reflex changes that were attributable to the vestibular stimulation. In addition, some evidence was obtained linking changes in stereotypic responding to the vestibular…

  12. Concurrent Validities of the Stanford-Binet (Fourth Edition), Leiter, and Vineland with Developmentally Delayed Children.

    ERIC Educational Resources Information Center

    Atkinson, Leslie; And Others

    1992-01-01

    For 24 developmentally delayed children tested, correlations between Stanford-Binet Intelligence Scale, Fourth Edition (SB:4) and Leiter International Performance Scale (LIPS) global scores was high (r=.78). In seven cases, intraindividual discrepancies were large and significant. SB:4 and LIPS global scores correlated with Vineland Adaptive…

  13. Impact of Adult Interaction on Play Behaviors and Emotional Responses of Preschoolers with Developmental Delays.

    ERIC Educational Resources Information Center

    Hupp, Susan C.; And Others

    1992-01-01

    The effects of different patterns of adult social interaction during play on children's exploration of toys and emotional responses was investigated with four preschoolers with moderate developmental delays. Results suggested more positive emotional responses during child-centered play than during the adult-centered condition and the possible…

  14. 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…

  15. Social Routines and Language Play: Developing Communication Responses in Developmentally Delayed Blind Children.

    ERIC Educational Resources Information Center

    Rogow, Sally M.

    1983-01-01

    Social routines, which combined nursery rhymes with carefully planned action sequences, were used to help two young developmentally delayed, visually handicapped children acquire communicative responses. Midway through the 3-year project, one child responded to words for objects, people, and actions. (Author/SEW)

  16. 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…

  17. 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…

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

    ERIC Educational Resources Information Center

    Fenning, Rachel M.; Baker, Bruce L.; Juvonen, Jaana

    2011-01-01

    This study examined parent-child emotion discourse, children's independent social information processing, and social skills outcomes in 146 families of 8-year-olds with and without developmental delays. Children's emergent social-cognitive understanding (internal state understanding, perspective taking, and causal reasoning and problem solving)…

  19. 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…

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

    ERIC Educational Resources Information Center

    Bagner, Daniel M.; Graziano, Paulo A.

    2013-01-01

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

  1. Differences in social signals produced by children with developmental delays of differing etiologies.

    PubMed

    Walden, T A; Blackford, J U; Carpenter, K L

    1997-11-01

    Clarity of referential looks (either a focus on parent's face or other focus) produced by preschool children with delays of differing etiologies and children without delays was examined. Adults (with and without experience with children with delays) viewed videotaped segments in which children's looks did or did not occur. Adults judged whether a look occurred and rated their confidence in each judgment; latency to respond was measured. Adults' experience with children with delays did not influence outcome measures. When viewing looks focusing on parents' faces, participants were more accurate and more confident judging looks by children with typical development, less accurate when viewing face-directed looks of children with developmental delays, and least accurate when viewing children with Down syndrome. Discriminability of social looks differed by etiological group, and judges' decision criteria, confidence, and speed of responding also differed. PMID:9394138

  2. 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

  3. 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.

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

    PubMed Central

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

    2014-01-01

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

  5. 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

  6. 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

  7. 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

  8. Toilet training children with autism and developmental delays: an effective program for school settings.

    PubMed

    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.

  9. Global perspective on early diagnosis and intervention for children with developmental delays and disabilities

    PubMed Central

    SCHERZER, ALFRED L; CHHAGAN, MEERA; KAUCHALI, SHUAIB; SUSSER, EZRA

    2013-01-01

    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, there is an urgent need to recognize that improving the quality of life of the survivors must complement mortality reduction in healthcare practice and programs. The incorporation of early evaluation and intervention programs into routine pediatric care is likely to have the most impact on the quality of life of these children. We therefore call for leadership from practitioners, governments, and international organizations to prioritize regular childhood developmental surveillance for possible delays and disabilities, and to pursue early referral for intervention. PMID:22803576

  10. Global perspective on early diagnosis and intervention for children with developmental delays and disabilities.

    PubMed

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

    2012-12-01

    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, there is an urgent need to recognize that improving the quality of life of the survivors must complement mortality reduction in healthcare practice and programs. The incorporation of early evaluation and intervention programs into routine pediatric care is likely to have the most impact on the quality of life of these children. We therefore call for leadership from practitioners, governments, and international organizations to prioritize regular childhood developmental surveillance for possible delays and disabilities, and to pursue early referral for intervention. PMID:22803576

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

    PubMed Central

    Ashwood, Paul; Van de Water, Judy; Hertz-Picciotto, I.

    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 from Genetics and the Environment (CHARGE) study. Results from conditional logistic regression demonstrated few significant associations overall. Maternal autoimmune disease was significantly associated with a modest increase in odds of developmental disorders (combined ASD + DD; OR = 1.46, 95 % CI 1.01, 2.09) but not of ASD alone. Associations with certain allergens and onset periods were also suggested. These findings suggest maternal autoimmune disease may modestly influence childhood developmental disorders (ASD + DD). PMID:24337796

  12. Father’s Role in Parent Training for Children with Developmental Delay

    PubMed Central

    Bagner, Daniel M.

    2013-01-01

    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. Clinical implications highlight the importance of involving fathers in parent training, particularly when working with children with developmental delay. PMID:23772849

  13. [The pathophysiological analysis of cerebrolysin therapy of children with mental developmental delay caused by ecological factors].

    PubMed

    Govorin, N V; Zlova, T P; Akhmetova, V V; Tarasova, O A

    2008-01-01

    The treatment with cerebrolysin combined with psychological correction was conducted in 24 children, aged 4-6 years, with mental developmental delay. The effect of this drug was compared to placebo (20 patients with mental development delay) and control groups (35 healthy children). After cerebrolysin therapy effect of cerebrolysin (0,1 mg/1kg of body mass during 42 day) was assessed using neuropsychological data and a set of different pathophysiological indices which reflected the biochemical, immunological and neurophysiological status of patients. After cerebrolysin therapy significant improvement of the mental state, including preconditions of intellect, and motor functions specific for mental development delay was found. These changes were correlated with the positive dynamics of some indices - lipid peroxidation, immune status, hormonal shifts and parameters of neurodegeneration-neuroprotection processes.

  14. Polybrominated diphenyl ethers in relation to autism and developmental delay: a case-control study

    PubMed Central

    2011-01-01

    Background Polybrominated diphenyl ethers (PBDEs) are flame retardants used widely and in increasing amounts in the U.S. over the last few decades. PBDEs and their metabolites cross the placenta and studies in rodents demonstrate neurodevelopmental toxicity from prenatal exposures. PBDE exposures occur both via breastfeeding and hand-to-mouth activities in small children. Methods Participants were 100 children from the CHARGE (CHildhood Autism Risk from Genetics and the Environment) Study, a case-control epidemiologic investigation of children with autism/autism spectrum disorder, with developmental delay and from the general population. Diagnoses of autism were confirmed by the Autism Diagnostic Observation Schedule and Autism Diagnostic Inventory-Revised, and of developmental delay using the Mullen's Scales of Early Learning and the Vineland Adaptive Behavior Scales. Typically developing controls were those with no evidence of delay, autism, or autism spectrum disorder. Eleven PBDE congeners were measured by gas chromatography/mass spectrometry from serum specimens collected after children were assessed. Logistic regression was used to evaluate the association between plasma PBDEs and autism. Results Children with autism/autism spectrum disorder and developmental delay were similar to typically developing controls for all PBDE congeners, but levels were high for all three groups. Conclusions Plasma samples collected post-diagnosis in this study may not represent early life exposures due to changes in diet and introduction of new household products containing PBDEs. Studies with direct measurements of prenatal or infant exposures are needed to assess the possible causal role for these compounds in autism spectrum disorders. PMID:21205326

  15. Stage-specific signaling pathways during murine testis development and spermatogenesis: A pathway-based analysis to quantify developmental dynamics.

    PubMed

    Wegner, Susanna H; Yu, Xiaozhong; Pacheco Shubin, Sara; Griffith, William C; Faustman, Elaine M

    2015-01-01

    Shifting the field of developmental toxicology toward evaluation of pathway perturbation requires a quantitative definition of normal developmental dynamics. This project examined a publicly available dataset to quantify pathway dynamics during testicular development and spermatogenesis and anchor toxicant-perturbed pathways within the context of normal development. Genes significantly changed throughout testis development in mice were clustered by their direction of change using K-means clustering. Gene Ontology terms enriched among each cluster were identified using MAPPfinder. Temporal pathway dynamics of enriched terms were quantified based on average expression intensity for all genes associated with a given term. This analysis captured processes that drive development, including the peak in steroidogenesis known to occur around gestational day 16.5 and the increase in meiosis and spermatogenesis-related pathways during the first wave of spermatogenesis. Our analysis quantifies dynamics of pathways vulnerable to toxicants and provides a framework for quantifying perturbation of these pathways. PMID:25463528

  16. 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 screening…

  17. 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. PMID:25109299

  18. Developmental Sentence Scoring: A Method of Quantifying the Development of Syntax and Morphology in Children's Language. Final Report.

    ERIC Educational Resources Information Center

    Lee, Laura L.

    The objectives of the research reported here were (1) to develop and test the Developmental Sentence Scoring (DSS) technique, a method for quantifying the increasing use of syntactic and morphological structures in the spontaneous speech of children between the ages of three and seven, (2) to establish age norms for syntactic and morphological…

  19. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

    PubMed Central

    2014-01-01

    Background The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders. Despite growing evidence, a description of the full phenotypic spectrum of this condition is lacking. Methods We conducted a multicentre study to identify and characterise the clinical features associated with haploinsufficiency of CHD2. Patients with deletions of this gene were identified from among broadly ascertained clinical cohorts undergoing genomic microarray analysis for developmental delay, congenital anomalies and/or autism spectrum disorder. Results Detailed clinical assessments by clinical geneticists showed recurrent clinical symptoms, including developmental delay, intellectual disability, epilepsy, behavioural problems and autism-like features without characteristic facial gestalt or brain malformations observed on magnetic resonance imaging scans. Parental analysis showed that the deletions affecting CHD2 were de novo in all four patients, and analysis of high-resolution microarray data derived from 26,826 unaffected controls showed no deletions of this gene. Conclusions The results of this study, in addition to our review of the literature, support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals. PMID:24834135

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

    PubMed

    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

  1. 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.

  2. 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.

  3. [Developmental delay in breastfed children due to inadequate diet of the mother].

    PubMed

    Baatenburg de Jong, A; Bekhof, J; Zwart, P; Langenhorst, V J; Roorda, R J

    2006-03-01

    Two infant boys of 7 and 12 months respectively who presented with symptoms of failure to thrive and developmental delay were diagnosed with vitamin B12 deficiency. This deficiency is a rare condition in infants living in developed countries. It does occur, however, in infants who are breastfed by mothers with an inadequate diet. Both of the children studied were breastfed by vegetarian mothers. Following vitamin suppletion, both children showed signs of recovery. The importance of considering vitamin deficiencies in similar infants presenting with failure to thrive is emphasized. Moreover, maternal dietary habits in breastfed children should be checked. To prevent irreversible neurological damage, early recognition of any nutritional deficiencies is important.

  4. 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

  5. The Friendships of Young Children with Developmental Delays: A Longitudinal Analysis

    PubMed Central

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

    2007-01-01

    This longitudinal study examined the social interactions of children with mild developmental (cognitive) delays with friends across the early childhood and early elementary years. Results revealed increases in many forms of social exchange with effect sizes in the moderate range, but no changes in sustained interactive play. Social interaction patterns, difficulties in identifying friends to participate in the study, and concerns evident in children’s peer and friendship networks suggest the general absence of reciprocal friendships. These findings are consistent with the hypothesis that children’s limited peer-related social competence constrains all aspects of their development of friendships. Despite these problems, the potential benefits of interventions designed to support relationships at this stage of friendship development for children with delays were noted. PMID:17558442

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

    PubMed

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

    2010-10-01

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

  7. Early developmental delay in children with autism: A study from a developing country.

    PubMed

    Arabameri, Elahe; Sotoodeh, Mohammad Saber

    2015-05-01

    Early diagnosis is appropriate and important for developmental disorders such as autism spectrum disorder. In many less developed countries, unfortunately, diagnosis of this disorder is delayed. The aim of the present study is to determine whether this disorder can be screened using simple strategies such as comparison of the age of acquisition of motor skills. For this purpose, 124 children with autism were chosen to enter the study, and their parents were asked to retrospectively specify the age of achieving milestones of sitting without support, standing alone and walking alone. Information obtained from the parents was compared with World Health Organization standards. Results indicate that participants (male and female) have significantly delayed age of acquisition of all three skills. Based on this result, it can be suggested that existing standards, as a simple means with low cost and easy availability, can be used for early screening of the disease at a younger age so that treatment can be provided more quickly.

  8. 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. PMID:3432383

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

    PubMed Central

    Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández

    2014-01-01

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

  10. 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

  11. [Symptoms, self concept and developmental delay in healthy and chronically ill adolescents with type I diabetes].

    PubMed

    Boeger, A; Seiffge-Krenke, I

    1994-03-01

    In a prospective four-year longitudinal study 108 adolescents with diabetes and 107 healthy adolescents are being compared. In this paper data are presented from the initial assessment, in which psychopathology in the two groups was compared. In addition, the effect of diabetes on psychosocial development was examined. Several questionnaires were administered to assess symptomatology, self-concept and progress on certain developmental tasks. Regarding symptomatology, diabetic youths described themselves as more normal, i.e. having fewer clinical symptoms, than did the healthy controls. In addition, they had remarkably high scores on a scale of social desirability. This latter result points to a defence mechanism. Only the group of males with poorly controlled diabetes openly acknowledged that they had problems. All of the diabetics showed clear delays in psychosocial development compared with their healthy agemates. There were significant delays in developmental areas involving achievement of autonomy from parents and orientation towards member of one's own age group (regardless of sex), and the subjects with diabetes put less emphasis than the healthy controls on the importance of being successful in these areas in the future. PMID:7515210

  12. Genetic Evaluation of Children with Global Developmental Delay--Current Status of Network Systems in Taiwan.

    PubMed

    Foo, Yong-Lin; Chow, Julie Chi; Lai, Ming-Chi; Tsai, Wen-Hui; Tung, Li-Chen; Kuo, Mei-Chin; Lin, Shio-Jean

    2015-08-01

    This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries.

  13. 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.

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

    PubMed

    Avina Fierro, Jorge Arturo; Avina, Daniel Alejandro Hernández

    2014-09-01

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

  15. Continuity and change in the social competence of children with autism, Down syndrome, and developmental delays.

    PubMed

    Sigman, M; Ruskin, E; Arbeile, S; Corona, R; Dissanayake, C; Espinosa, M; Kim, N; López, A; Zierhut, C

    1999-01-01

    The aims of this longitudinal study were: (1) to assess the continuity and change in diagnosis, intelligence, and language skills in children with autism, Down syndrome, and other developmental delays, (2) to specify the deficits in social competence and language skills in these children, and (3) to identify precursors in the preschool period of gains in language skills and of peer engagement in the mid-school years. The initial sample consisted of 70 children with autism, 93 children with Down syndrome, 59 children with developmental delays, and 108 typically developing children, with the first three groups of children studied when they were between 2 and 6 years of age. At follow-up, 51 children with autism, 71 children with Down syndrome, and 33 children with developmental delays were assessed at mean ages around 10-13 years. The long-term follow-up showed little change in the diagnosis of autism but sizeable improvements in intellectual and language abilities within the autistic group, a pattern that was not seen in the children with Down syndrome. Unique deficits in joint attention, some forms of representational play, responsiveness to the emotions of others, and initiation of peer engagement were identified in the autistic children, whereas the children with Down syndrome seemed to have a specific deficit only in language. Joint attention skills were concurrently associated with language abilities in all groups and predicted long-term gains in expressive language for the children with autism. Children with autism, regardless of their level of functioning, were less socially engaged with classmates than the other developmentally disabled children because they infrequently initiated and accepted play bids, not because they were rebuffed by peers. Early nonverbal communication and play skills were predictors of the frequency of initiations of peer play for the children with Down syndrome as well as the extent of peer engagement of the children with autism

  16. A mental health clinic for toddlers with developmental delays and behavior problems.

    PubMed

    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 young children, to train graduate students to work with this population, and to begin to contribute to the limited research available in this area. This paper describes the clinical intake procedures and outcomes for the 81 children served by the clinic over a 2-year period. Referral concerns included tantrums, aggression, oppositional behaviors, hyperactivity, and self-injury. The children came from a diverse group of families living in poverty; single mothers with less than a high school education headed most of the households. The clinical intake included direct observations of parent-child interactions, child behavior assessments, and parental interviews and self-report measures. For the present sample, 77% of the children met the criteria for a developmental disability and nearly 70% also met the criteria for a psychiatric disorder. The most common diagnosis was oppositional defiant disorder. Discussion regarding the challenges inherent in working with families of toddlers with developmental delays and psychiatric disorders living in low-income circumstances is included.

  17. 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.

  18. 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

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

    PubMed Central

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

    2016-01-01

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

  20. Parents as change agents in the management of their developmentally delayed children's noncompliant behaviors: a critical review.

    PubMed

    Breiner, J; Beck, S

    1984-01-01

    The present paper reviews the behavioral parent training literature that has focused on reducing noncompliance with developmentally delayed children. Several factors are identified which may make parental attempts to reduce developmentally delayed children's noncompliance difficult. The 13 studies reviewed are separated into group and single case approaches, and each study was assessed on a number of methodological factors. The studies generally report success in modifying non-compliance; however, the variability in the experimental rigor of the reviewed studies preclude definitive conclusions from being made at this time about the efficacy of training parents to reduce noncompliance with delayed children. As examples, only a few studies have collected parental data and home observational data. Clinical and training considerations are also discussed, such as the need to identify parental and marital characteristics that may influence training success and identify which specific training techniques are most effective in teaching parents contingency management procedures. Finally, suggestions for training parents of delayed children are offered. PMID:6205627

  1. 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.

  2. 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

    2015-05-01

    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.

  3. 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. PMID:27425563

  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. 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.

  6. 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

    2016-01-01

    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. PMID:26812546

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

    PubMed

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

    2010-04-01

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

  8. Sensory Features and Repetitive Behaviors in Children with Autism and Developmental Delays

    PubMed Central

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

    2010-01-01

    This study combined parent and observational measures to examine the association between aberrant sensory features and restricted, repetitive behaviors in children with autism (N = 67) and those with developmental delays (N = 42). Confirmatory factor analysis was used to empirically validate three sensory constructs of interest: hyperresponsiveness, hyporesponsiveness, and sensory seeking. Examining the association between the three derived sensory factor scores and scores on the Repetitive Behavior Scales—Revised revealed the co-occurrence of these behaviors in both clinical groups. Specifically, high levels of hyperresponsive behaviors predicted high levels of repetitive behaviors, and the relationship between these variables remained the same controlling for mental age. We primarily found non-significant associations between hyporesponsiveness or sensory seeking and repetitive behaviors, with the exception that sensory seeking was associated with ritualistic/sameness behaviors. These findings suggest that shared neurobiological mechanisms may underlie hyperresponsive sensory symptoms and repetitive behaviors and have implications for diagnostic classification as well as intervention. PMID:20437603

  9. De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

    PubMed

    Fujita, Atsushi; Isidor, Bertrand; Piloquet, Hugues; Corre, Pierre; Okamoto, Nobuhiko; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi

    2016-09-01

    MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we report a female patient with a de novo nonsense mutation (c.611C>G, p.Ser204*) in MEIS2. She showed severe intellectual disability, moderate motor/verbal developmental delay, cleft palate, cardiac septal defect, hypermetropia, severe feeding difficulties with gastro-esophageal reflux and constipation. By reviewing this patient and previous patients with MEIS2 point mutations, we found that feeding difficulty with gastro-esophageal reflux appears to be one of the core clinical features of MEIS2 haploinsufficiency, in addition to intellectual disability, cleft palate and cardiac septal defect.

  10. Parent Training Outcomes among Young Children with Callous-Unemotional Conduct Problems with or At-Risk for Developmental Delay

    PubMed Central

    Kimonis, Eva R.; Bagner, Daniel M.; Linares, Dainelys; Blake, Clair A.; Rodriguez, Gabriela

    2013-01-01

    School-aged children with conduct problems and high levels of callous-unemotional (i.e., lack of empathy, guilt, and lack of caring behaviors) traits (CP+CU) tend to yield less benefit from traditional interventions than do their low-CU counterparts, particularly with respect to CP outcomes. To date, little is known about treatment response among young children with CP+CU, particularly those with or at risk for developmental delay. Components of Parent-Child Interaction Therapy (PCIT), a parent training program effective at reducing CP in young children, have compelling theoretical support for addressing core deficits unique to children with CP+CU and have been used successfully with young children with developmental delay. Our first aim was to test the psychometric properties of a measure of CU traits in preschool children with and without developmental delay. Our second aim was to test whether CU traits predicted post-treatment CP after controlling for initial levels of CP. Participants were 63 families of young children (mean age = 3.87 years), with or at-risk for developmental delay, who presented with elevated CP and were treated in a hospital-based outpatient clinic. Results indicated that developmentally delayed children with high levels of CU traits, but not children at-risk for delay due to premature birth, showed significantly poorer CP outcomes following treatment with PCIT than did children scoring low on CU traits, even after controlling for initial CP severity. The implications of these findings with regard to treating and preventing severe disruptive behaviors among young children with CP+CU are discussed. PMID:24511217

  11. 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.

  12. 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

  13. Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions.

    PubMed

    Strickler, Alexis; Gallo, Silvanna; King, Alejandra; Rosenzweig, Sergio D

    2015-04-09

    Leucocyte adhesion deficiency (LAD) is a group of rare autosomal recessive (<1:1 000 000 births) inherited disorders characterised by immune deficiency and peripheral neutrophilia. Three types of LAD syndrome have been distinguished. LAD type 1 (LAD-I) is the most common. It results from a mutation in the integrin β 2 (ITGB2) gene that codes the ITGB subunit (CD18 antigen). Since 1970, it has been reported in more than 300 children worldwide. It is characterised by delayed separation of the umbilical cord, recurrent bacterial and fungal infections, defective wound healing, blood neutrophilia and a high mortality rate at an early age. We report the second fatal case of an infant with LAD-I diagnosed in Chile, with developmental delay associated with a congenital cytomegalovirus infection. CD18/CD11 expression was normal. Genetic analysis of CD18 revealed a homozygous mutation in ITGB2, viz.c.1835G>T; p.C612F, and led us to suspect a biological parent other than the legal father and, therefore, an unwanted social situation.

  14. Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions.

    PubMed

    Strickler, Alexis; Gallo, Silvanna; King, Alejandra; Rosenzweig, Sergio D

    2015-01-01

    Leucocyte adhesion deficiency (LAD) is a group of rare autosomal recessive (<1:1 000 000 births) inherited disorders characterised by immune deficiency and peripheral neutrophilia. Three types of LAD syndrome have been distinguished. LAD type 1 (LAD-I) is the most common. It results from a mutation in the integrin β 2 (ITGB2) gene that codes the ITGB subunit (CD18 antigen). Since 1970, it has been reported in more than 300 children worldwide. It is characterised by delayed separation of the umbilical cord, recurrent bacterial and fungal infections, defective wound healing, blood neutrophilia and a high mortality rate at an early age. We report the second fatal case of an infant with LAD-I diagnosed in Chile, with developmental delay associated with a congenital cytomegalovirus infection. CD18/CD11 expression was normal. Genetic analysis of CD18 revealed a homozygous mutation in ITGB2, viz.c.1835G>T; p.C612F, and led us to suspect a biological parent other than the legal father and, therefore, an unwanted social situation. PMID:25858935

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

    PubMed

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

    2010-05-01

    Many children are at risk of not achieving their full potential for development. Epidemiological studies have the advantage of being able to identify a number of associated factors potentially amenable to intervention. Our purpose was to identify risk factors for suspected developmental delay (SDD) at age 2 years among all children born in the city of Pelotas, Brazil, in 2004. This study was part of the 2004 Pelotas Birth Cohort. The Battelle Screening Developmental Inventory (BSDI) was administered to cohort children at age 2 years. A hierarchical model of determination for SDD with confounder adjustment was built including maternal sociodemographic, reproductive and gestational characteristics, as well as child and environmental characteristics. Multivariable analysis was carried out using Poisson regression. Prevalence ratios (PR) and 95% confidence intervals [95% CI] were calculated. In the results, 3.3% of the 3869 children studied screened positive for SDD. After confounder control, children more likely to show SDD were: those with positive BSDI at age 12 months (PR = 5.51 [3.59, 8.47]); with 5-min Apgar <7 (PR = 3.52 [1.70, 7.27]); with mothers who had <4 years of schooling (PR = 3.35 [1.98, 5.66]); from social classes D and E (PR = 3.00 [1.45, 6.19]); with a history of gestational diabetes (PR = 2.77 [1.34, 5.75]); born <24 months after the last sibling (PR = 2.46 [1.42, 4.27]); were not told child stories in the preceding week (PR 2.28 [1.43, 3.63]); did not have children's literature at home (PR = 2.08 [1.27, 3.39]); with low birthweight (PR = 1.75 [1.00, 3.07]); were born preterm (PR = 1.74 [1.07, 2.81]); with <6 antenatal care appointments (PR = 1.70 [1.07, 2.68]); with history of hospitalisation (PR = 1.65 [1.09, 2.50]); and of male sex (PR = 1.43 [1.00, 2.04]). These risk factors may constitute potential targets for intervention by public policies and may provide help to paediatricians in preventing developmental delay.

  16. 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

  17. [Prognosis of three-year-old children with developmental speech delay: reading and writing abilities at eight years of age].

    PubMed

    Koeda, T; Tomita, Y; Takeshita, K

    1990-05-01

    Of 1761 three-year-old children born in 1979-80 and lived at Yonago city, Japan, 28 (1.6%; 25 boys and girls) were diagnosed as developmental speech delay by two pediatric neurologists. Reading and writing skills were evaluated in twelve of the speech delayed children at 8 years by ITPA, Token test and their compositions. Their results showed that reading or writing skill was delayed in many of them, especially in those with behavioral disorders, such as hyperkinetic behavior and poor personal relationship at 3 years.

  18. 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…

  19. 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…

  20. Review of Recent Research Using Constant Time Delay to Teach Chained Tasks to Persons with Developmental Disabilities

    ERIC Educational Resources Information Center

    Dogoe, Maud; Banda, Devender R.

    2009-01-01

    We reviewed twelve studies that used the constant time delay (CTD) procedure to teach chained tasks to individuals with developmental disabilities from years 1996-2006. Variables analyzed include types of tasks that have been taught with the procedure, how effective CTD has been in teaching participants, and whether researchers have investigated…

  1. 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,…

  2. 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…

  3. 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…

  4. 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.

  5. 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…

  6. 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,…

  7. 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…

  8. 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…

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  10. 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)…

  11. 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…

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

    PubMed Central

    2013-01-01

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

  13. 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.

  14. Prenatal SSRI Use and Offspring With Autism Spectrum Disorder or Developmental Delay

    PubMed Central

    Lee, Li-Ching; Crum, Rosa M.; Zimmerman, Andrew W.; Hertz-Picciotto, Irva

    2014-01-01

    OBJECTIVE: To examine associations between prenatal use of selective serotonin reuptake inhibitors (SSRIs) and the odds of autism spectrum disorders (ASDs) and other developmental delays (DDs). METHODS: A total of 966 mother-child pairs were evaluated (492 ASD, 154 DD, 320 typical development [TD]) from the Childhood Autism Risks from Genetics and the Environment (CHARGE) Study, a population-based case-control study. Standardized measures confirmed developmental status. Interviews with biological mothers ascertained prenatal SSRI use, maternal mental health history, and sociodemographic information. RESULTS: Overall, prevalence of prenatal SSRI exposure was lowest in TD children (3.4%) but did not differ significantly from ASD (5.9%) or DD (5.2%) children. Among boys, prenatal SSRI exposure was nearly 3 times as likely in children with ASD relative to TD (adjusted odds ratio [OR]: 2.91; 95% confidence interval [CI]: 1.07–7.93); the strongest association occurred with first-trimester exposure (OR: 3.22; 95% CI: 1.17–8.84). Exposure was also elevated among boys with DD (OR: 3.39; 95% CI: 0.98–11.75) and was strongest in the third trimester (OR: 4.98; 95% CI: 1.20–20.62). Findings were similar among mothers with an anxiety or mood disorder history. CONCLUSIONS: In boys, prenatal exposure to SSRIs may increase susceptibility to ASD or DD. Findings from published studies on SSRIs and ASD continues to be inconsistent. Potential recall bias and residual confounding by indication are concerns. Larger samples are needed to replicate DD results. Because maternal depression itself carries risks for the fetus, the benefits of prenatal SSRI use should be carefully weighed against potential harms. PMID:24733881

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

    PubMed Central

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

    2013-01-01

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

  16. 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.

  17. 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. PMID:26169316

  18. 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.

  19. 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

  20. Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

    PubMed

    Balasubramanian, M; Shield, J P H; Acerini, C L; Walker, J; Ellard, S; Marchand, M; Polak, M; Vaxillaire, M; Crolla, J A; Bunyan, D J; Mackay, D J G; Temple, I K

    2010-02-01

    Congenital pancreatic hypoplasia is a rare cause of neonatal diabetes. We report on a series of three patients with pancreatic agenesis and congenital heart defects. All had abdominal scan evidence of pancreatic agenesis. In addition, Patient 1 had a ventricular septal defect, patent ductus arteriosus and pulmonary artery stenosis; Patient 2 had a truncus arteriosus and Patient 3 had tetralogy of Fallot. Two of the three patients have developmental delay. All three patients were isolated cases within the family. Investigations included sequencing of GCK, ABCC8, IPF1, NEUROD1, PTF1A, HNF1B, INS, ISL1, NGN3, HHEX, G6PC2, TCF7L2, SOX4, FOXP3 (Patients 1 and 2), GATA4 and KCNJ11 genes (all three patients), but no mutations were found. Genetic investigation to exclude paternal UPD 6, methylation aberrations and duplications of 6q24 was also negative in all three. 22q11 deletion was excluded in all three patients. Array CGH in Patient (1) showed a approximately 250 kb, paternally inherited duplication of chromosome 12q [arr cgh 12q24.33 (B35:CHR12:131808577-132057649++) pat], not found in the other two patients. Permanent neonatal diabetes mellitus due to pancreatic hypoplasia with congenital heart defects has been reported before and may represent a distinct condition. We discuss this rare association and review previously reported literature. PMID:20082465

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

    PubMed

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

    2013-06-01

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

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

    PubMed

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

    2013-06-01

    Parents of children with disabilities vary in their reaction to their children's diagnosis. The current study focused on fathers in addition to mothers and examined their resolution and coping styles when having children diagnosed with developmental delay (DD). Sixty-five fathers and 71 mothers were interviewed using the reaction to the diagnosis interview (RDI; Pianta & Marvin, 1992a). Results indicated that the majority of parents were unresolved with their child's diagnosis, with no differences found between fathers' and mothers' rates of resolution. Furthermore, both parents of children that were diagnosed at a later age and parents that were less educated tended to be unresolved, as did fathers of a lower socioeconomic status. Older age of both children and mothers was related to maternal lack of resolution. Finally, an in-depth examination revealed significant differences in the manner in which fathers and mothers cope with their children's diagnosis: whereas mothers were more prone to using an emotional coping style, fathers tended to use a cognitive coping style. The clinical implications of paternal versus maternal coping styles are discussed. PMID:23584184

  3. TGFBR2 Deletion in a 20-Month-Old Female With Developmental Delay and Microcephaly

    PubMed Central

    Campbell, Ian M.; Kolodziejska, Katarzyna E.; Quach, Michael M.; Wolf, Varina Louise; Cheung, Sau Wai; Lalani, Seema R.; Ramocki, Melissa B.; Stankiewicz, Pawel

    2013-01-01

    To date, over 70 mutations in the TGFBR2 gene have been reported in patients with Loeys–Dietz syndrome (LDS), Marfan syndrome type 2 (MFS2), or other hereditary thoracic aortic aneurysms and dissections. Whereas almost all of mutations analyzed thus far are predicted to disrupt the constitutively active C-terminal serine/threonine kinase domain of TGFBR2, mounting evidence suggests that the molecular mechanism underlying these diseases is more complex than simple haploinsufficiency. Using exon-targeted oligonucleotide array comparative genomic hybridization, we identified an ~896 kb deletion of TGFBR2 in a 20-month-old female with microcephaly and global developmental delay, but no stigmata of LDS. FISH analysis showed no evidence of this deletion in the parental peripheral blood samples; however, somatic mosaicism was detected using PCR in the paternal DNA from peripheral blood lymphocytes and lymphoblasts. Our data suggest that TGFBR2 haploinsufficiency may cause a phenotype, which is distinct from LDS. Moreover, we propose that somatic mosaicism below the detection threshold of FISH analysis in asymptomatic parents of children with genomic disorders may be more common than previously recognized. PMID:21567932

  4. Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.

    PubMed

    Utami, Kagistia H; Hillmer, Axel M; Aksoy, Irene; Chew, Elaine G Y; Teo, Audrey S M; Zhang, Zhenshui; Lee, Charlie W H; Chen, Pauline J; Seng, Chan Chee; Ariyaratne, Pramila N; Rouam, Sigrid L; Soo, Lim Seong; Yousoof, Saira; Prokudin, Ivan; Peters, Gregory; Collins, Felicity; Wilson, Meredith; Kakakios, Alyson; Haddad, Georges; Menuet, Arnaud; Perche, Olivier; Tay, Stacey Kiat Hong; Sung, Ken W K; Ruan, Xiaoan; Ruan, Yijun; Liu, Edison T; Briault, Sylvain; Jamieson, Robyn V; Davila, Sonia; Cacheux, Valere

    2014-01-01

    Delineating candidate genes at the chromosomal breakpoint regions in the apparently balanced chromosome rearrangements (ABCR) has been shown to be more effective with the emergence of next-generation sequencing (NGS) technologies. We employed a large-insert (7-11 kb) paired-end tag sequencing technology (DNA-PET) to systematically analyze genome of four patients harbouring cytogenetically defined ABCR with neurodevelopmental symptoms, including developmental delay (DD) and speech disorders. We characterized structural variants (SVs) specific to each individual, including those matching the chromosomal breakpoints. Refinement of these regions by Sanger sequencing resulted in the identification of five disrupted genes in three individuals: guanine nucleotide binding protein, q polypeptide (GNAQ), RNA-binding protein, fox-1 homolog (RBFOX3), unc-5 homolog D (C.elegans) (UNC5D), transmembrane protein 47 (TMEM47), and X-linked inhibitor of apoptosis (XIAP). Among them, XIAP is the causative gene for the immunodeficiency phenotype seen in the patient. The remaining genes displayed specific expression in the fetal brain and have known biologically relevant functions in brain development, suggesting putative candidate genes for neurodevelopmental phenotypes. This study demonstrates the application of NGS technologies in mapping individual gene disruptions in ABCR as a resource for deciphering candidate genes in human neurodevelopmental disorders (NDDs).

  5. Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders

    PubMed Central

    Peabody, John; DeMaria, Lisa; Tamandong-LaChica, Diana; Florentino, Jhiedon; Acelajado, Maria Czarina; Burgon, Trever

    2015-01-01

    To explore the routine and effective use of genetic testing for patients with intellectual disability and developmental delay (ID/DD), we conducted a prospective, randomized observational study of 231 general pediatricians (40%) and specialists (60%), using simulated patients with 9 rare pediatric genetic illnesses. Participants cared for 3 randomly assigned simulated patients, and care responses were scored against explicit evidence-based criteria. Scores were calculated as a percentage of criteria completed. Care varied widely, with a median overall score of 44.7% and interquartile range of 36.6% to 53.7%. Diagnostic accuracy was low: 27.4% of physicians identified the correct primary diagnosis. Physicians ordered chromosomal microarray analysis in 55.7% of cases. Specific gene sequence testing was used in 1.4% to 30.3% of cases. This study demonstrates that genetic testing is underutilized, even for widely available tests. Further efforts to educate physicians on the clinical utility of genetic testing may improve diagnosis and care in these patients. PMID:27335989

  6. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.

    PubMed

    Beck, David B; Cho, Megan T; Millan, Francisca; Yates, Carin; Hannibal, Mark; O'Connor, Bridget; Shinawi, Marwan; Connolly, Anne M; Waggoner, Darrel; Halbach, Sara; Angle, Brad; Sanders, Victoria; Shen, Yufeng; Retterer, Kyle; Begtrup, Amber; Bai, Renkui; Chung, Wendy K

    2016-07-01

    Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous conditions such as developmental delay and intellectual disabilities. Using exome sequencing, we have identified four patients with similar phenotypes of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects who all have the same de novo R331W missense variant in C-terminal binding protein 1 (CTBP1). CTBP1 is a transcriptional regulator critical for development by coordinating different regulatory pathways. The R331W variant found in these patients is within the C-terminal portion of the PLDLS (Pro-Leu-Asp-Leu-Ser) binding cleft, which is the domain through which CTBP1, interacts with chromatin-modifying enzymes and mediates chromatin-dependent gene repression pathways. This is the first report of mutations within CTBP1 in association with any human disease.

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

    PubMed

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

    2012-05-01

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

  8. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

    PubMed

    Van Esch, Hilde; Rosser, Elisabeth M; Janssens, Sandra; Van Ingelghem, Ingrid; Loeys, Bart; Menten, Bjorn

    2010-10-01

    Interstitial deletions of the long arm of chromosome 6 are rare, and most reported cases represent large, cytogenetically detectable deletions. The implementation of array comparative genome hybridisation in the diagnostic work-up of patients presenting with congenital disorders, including developmental delay, has enabled identification of many patients with smaller chromosomal imbalances. In this report, the cases are presented of four patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a common microdeletion of 3.7 Mb. All presented with developmental delay, mild dysmorphism and signs of lax connective tissue. Interestingly, the common deleted region harbours 16 genes, of which COL12A1 is a good candidate for the connective tissue pathology.

  9. 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

  10. 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…

  11. A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

    PubMed

    Fontana, Paolo; Tortora, Cristina; Petillo, Roberta; Falco, Mariateresa; Miniero, Martina; De Brasi, Davide; Pisanti, Maria Antonietta

    2016-09-01

    5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep-set eyes, prominent columella, long philtrum, thin lips). © 2016 Wiley Periodicals, Inc.

  12. 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.

  13. 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

  14. 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. PMID:26763493

  15. 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

  16. 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.

  17. Diapause: delaying the developmental clock in response to a changing environment.

    PubMed

    Schiesari, Luca; O'Connor, Michael B

    2013-01-01

    Seasonal changes can induce organisms to modify their developmental growth. Many holometabolous insects, especially Lepidoptera, trigger diapause, an "actively induced" dormancy, for overwintering. Diapause is an alternative developmental pathway that reversibly blocks developmental growth during specific transitions and enhances the hibernating potential of the organism. Changes in environmental cues, such as light and temperature, trigger modifications in the levels, or in the timing, of developmental hormones. These in turn switch the developmental trajectory (diapause or direct development), strongly altering larval/pupal growth and inducing the appearance of diapause-bound seasonal morphs (polyphenism). We also discuss an example of vertebrate diapause using the killifish embryo as an example where diapause is an environmentally determined developmental switch analogous to that observed in lepidopteran dormancy. Based on the examples discussed here, we propose that the complex physiological responses leading to diapause might evolve quickly by relatively limited genetic changes in the regulation of hormonal signals that program normal developmental transitions.

  18. 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.

  19. Developmental iodine deficiency delays the maturation of newborn granule neurons associated with downregulation of p35 in postnatal rat hippocampus.

    PubMed

    Yu, Fei; Wang, Yi; Xu, Hongde; Dong, Jing; Wei, Wei; Wang, Yuan; Shan, Zhongyan; Teng, Weiping; Xi, Qi; Chen, Jie

    2014-08-01

    We evaluated the role of p35 in the maturation of hippocampal granule neurons in offspring caused by developmental iodine deficiency. Two developmental rat models were established with either an iodine-deficient diet, or propylthiouracil-adulterated water (5 ppm) to impair thyroid function, in pregnant rats from gestational day 6 until postnatal day 28. The protein levels of p35, cyclin-dependent kinase 5, β-catenin, and N-cadherin were assessed on postnatal day 14, 21, and 28. Dendritic morphogenesis of newborn granule neurons in dentate gyrus was examined. Developmental hypothyroidism induced by iodine deficiency and PTU treatment delayed the maturation of hippocampal granule neurons in the offspring and decreased the percentage of Dcx-positive neurons that expressed β-catenin on postnatal day 21 and 28. In addition, downregulation of p35 was observed in dentate gyrus of hypothyroid groups. Developmental hypothyroidism induced by iodine deficiency and PTU treatment could delay the maturation of newborn granule neurons in dentate gyrus, and this deficit may be attributed to the downregulation of p35.

  20. What do you do when they grow up? Approaches to seizures in developmentally delayed adults.

    PubMed

    Devinsky, Orrin

    2002-01-01

    Epilepsy and developmental disabilities (DD) often occur together but affect individuals differently and have a complex causal relationship. Most epilepsy in the population with DD is partial or symptomatic generalized. Seizures and antiepileptic drugs (AEDs) can further delay development, and the DD can complicate treatment and adjustment to epilepsy. Medical care and decision making require careful coordination of health care providers and the family, especially because of the trend for the patients to live in group homes. Behavioral and psychiatric disorders are difficult to diagnose but common in those with DD and epilepsy; psychiatric disorders are perhaps up to sevenfold higher in this group than in the general population. Psychotropic medications-antidepressants, anxiolytics (but use caution with benzodiazepines), antipsychotics, and stimulants-are appropriate for those with psychiatric disorders. Diagnostic difficulties may lead to undertreatment, and the motivation to lessen certain behaviors may lead to overtreatment. Because those with DD may be unusually sensitive to adverse effects of both seizures and AEDs, cognitive and behavioral side effects must be carefully monitored. Few relevant studies exist. For some patients, comorbid psychiatric disorders may be treated with one AED, such as carbamazepine, lamotrigine, or valproate. Phenobarbital and phenytoin may be inappropriate for those with epilepsy and DD. Studies have shown some success with oxcarbazepine (for partial and generalized epilepsy) and with adjunctive lamotrigine. For those on medication regimens, perhaps taking combinations of drugs for numerous years, queries about earlier attempts to reduce AEDs and gradual efforts to substitute less toxic mediations are worthwhile. Vagus nerve stimulation and epilepsy surgery for those with medically refractory epilepsy may be options after careful evaluation.

  1. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

    PubMed

    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

  2. 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

  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. 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.

  5. 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.

  6. 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

  7. Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?

    PubMed Central

    Cundiff, David K; Harris, William

    2006-01-01

    Background Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be malnourished by feeding them all an exclusively raw foods vegan diet. Both parents declined plea bargains and plan to defend themselves in court. Case presentation The fifth child born to a married couple was breast-fed until 2 1/2 months. Subsequently, the parents fed the baby an exclusively raw foods diet prepared in a blender at home. The four older children, ages 18 months – 6 1/2 years also ate an exclusively raw foods vegan diet. None of the four older children had significant previous injuries or serious illnesses. At autopsy, the infant weighed 3180 mg (6.99 pounds) and appeared emaciated. The thymus gland was absent and parathyroid glands were not located. The lungs were "congested." DiGeorge anomaly cannot be ruled out from these findings. Although, the coroner ruled that "malnutrition" was the sole cause of death, malnutrition, according to the World Health Organization definition, cannot be diagnosed in this infant. Compared with standard growth charts, the older children fell 2.1–4.1 standard deviations below the mean for North American children in height and weight. Labs were normal except for a low cholesterol level in all and a low prealbumin in one of three children tested. Therefore, malnutrition cannot be diagnosed in these children. The pediatrician diagnosed rickets in the four-year-old. However, chest x-rays were normal in all and long bone x-rays showed minimal changes in one child – no sign of rickets. The clinical diagnosis of rickets was not confirmed by the Center for Disease Control's criteria. A psychologist diagnosed the 18-month-old as developmentally delayed to the level of a 15-month-old, but this diagnosis is questionable. Conclusion The raw foods vegan diet and possibly inherited small stature from the father's side

  8. Peabody Developmental Motor Scales Gross and Fine Motor Skill Performance of Young Children with Speech and Language Delays versus the National Norms.

    ERIC Educational Resources Information Center

    Reeves, Lynda P.

    This study compared the skills performance of 60 children, ages 3 to 5, with speech and language delays on the Peabody Developmental Motor Scales (PDMS) with that of national norms on the PDMS. It found that the children with speech and language delays performed the PDMS gross motor skills significantly lower than the norm at each age level. The…

  9. Longitudinal analyses of geographic differences in utilization rates of children with developmental delays who participation in early intervention services.

    PubMed

    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 governmental reported early intervention services from year 2003 to 2009 in Taiwan. Results show that, the utilization rate of early intervention services was 9.18‰ (range=6.96-12.09‰) of children in 0-5 years during the past 7 years. Mean utilization rate in age group of 0-2 years was 8.32‰ (range=5.73-10.93‰), and age group of 3-5 years was 9.92‰ (range=7.78-13.78‰). We found that the utilization rate in all children aged 0-5 years (R(2)=0.93; p<0.001), boy group (R(2)=0.93; p<0.001) and girl group (R(2)=0.92; p=0.001) were significant increased gradually. The higher utilization rate of early intervention services (aged 0-5 years) were more likely to locate in the north cities (Keelung City=14.65‰; Taipei City=13.49‰), east areas--Hualien County (14.03‰), Taitung County (11.76‰) and central or south counties such as, Chiayi City (14.05‰), Tainan City (12.47‰), and Miaoli County (12.38‰). Hsinchu County (5.97‰), Kaohsiung City (6.21‰), Taichung County (6.74‰), Taipei County (6.95‰) have lower utilization rates of early intervention in Taiwan. The study highlights that the health care system should close the gaps in geographic disparities of early intervention services for children with developmental delays, and respond timely to the needs of these vulnerable children and their families.

  10. A 20 year review of punishment and alternative methods to treat problem behaviors in developmentally delayed persons.

    PubMed

    Matson, J L; Taras, M E

    1989-01-01

    Relevant journals were reviewed (n = 23) for a 20 year period (1967 to 1987) to assess the status of treatments for severe behavior problems of developmentally delayed persons. A hand search of journals was made; 382 studies were identified. Procedures were analyzed by problem behaviors treated, side effects reported, whether the procedure involved painful stimuli, nonpainful stimuli, food satiation, positive procedures, extinction or combinations of methods. The number of studies reported yearly was also plotted. The implication of these data for federal and state policy makers and for treatment programs dealing with difficult to treat clients is discussed. PMID:2648505

  11. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    PubMed Central

    Lamb, Allen N.; Rosenfeld, Jill A.; Neill, Nicholas J.; Talkowski, Michael E.; Blumenthal, Ian; Girirajan, Santhosh; Keelean-Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay-Loder, Loren; Terespolsky, Deborah; Bader, Patricia; Rosenbaum, Kenneth; Vallee, Stephanie; Moeschler, John B.; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C.; Moran, Rocio; Shealy, Amy; Madan-Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andrée; Heron-Longe, Bénédicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M.; Opheim, Kent E.; Eichler, Evan E.; Morton, Cynthia C.; Gusella, James F.; Schultz, Roger A.; Ballif, Blake C.; Shaffer, Lisa G.

    2013-01-01

    SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint within SOX5, eight individuals with intragenic SOX5 deletions (four are apparently de novo and one inherited from an affected parent), and seven individuals with larger 12p12 deletions encompassing SOX5. Common features in these subjects include prominent speech delay, intellectual disability, behavior abnormalities, and dysmorphic features. The phenotypic impact of the deletions may depend on the location of the deletion and consequently which of the three major SOX5 protein isoforms are affected. One intragenic deletion involving only untranslated exons was present in a more mildly affected subject, was inherited from a healthy parent and grandparent, and is similar to a deletion found in a control cohort. Therefore, some intragenic SOX5 deletions may have minimal phenotypic effect. Based on the location of the deletions in the subjects compared to the controls, the de novo nature of most of these deletions, and the phenotypic similarities among cases, SOX5 appears to be a dosage-sensitive, developmentally important gene. PMID:22290657

  12. 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. PMID:26507407

  13. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

    PubMed Central

    Popp, Bernt; Støve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André

    2015-01-01

    Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we excluded other variants in this gene. This X-linked gene encodes N-alpha-acetyltransferase 10, the catalytic subunit of the NatA complex involved in multiple cellular processes. A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. This rare disorder is characterized by a highly recognizable phenotype, global developmental delay and results in death during infancy. In an attempt to explain the discrepant phenotype, we used in vitro N-terminal acetylation assays which suggested that the severity of the phenotype correlates with the remaining catalytic activity. The variant in the Ogden syndrome patients exhibited a lower activity than the one seen in the boy with intellectual disability, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used. We propose that N-terminal acetyltransferase deficiency is clinically heterogeneous with the overall catalytic activity determining the phenotypic severity. PMID:25099252

  14. 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.

  15. 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.

  16. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.

    PubMed

    Popp, Bernt; Støve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André

    2015-05-01

    Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we excluded other variants in this gene. This X-linked gene encodes N-alpha-acetyltransferase 10, the catalytic subunit of the NatA complex involved in multiple cellular processes. A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. This rare disorder is characterized by a highly recognizable phenotype, global developmental delay and results in death during infancy. In an attempt to explain the discrepant phenotype, we used in vitro N-terminal acetylation assays which suggested that the severity of the phenotype correlates with the remaining catalytic activity. The variant in the Ogden syndrome patients exhibited a lower activity than the one seen in the boy with intellectual disability, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used. We propose that N-terminal acetyltransferase deficiency is clinically heterogeneous with the overall catalytic activity determining the phenotypic severity.

  17. Novel, Compound Heterozygous, Single Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

    PubMed Central

    Webb, Bryn D.; Wheeler, Patricia G.; Hagen, Jacob J.; Cohen, Ninette; Linderman, Michael D.; Diaz, George A.; Naidich, Thomas P.; Rodenburg, Richard J.; Houten, Sander M.; Schadt, Eric E.

    2015-01-01

    Novel, single nucleotide mutations were identified in the mitochondrial methionyl amino-acyl-tRNA synthetase gene (MARS2) via whole exome sequencing in two affected siblings with developmental delay, poor growth, and sensorineural hearing loss. We show that compound heterozygous mutations c.550C>T:p.Gln184* and c.424C>T:p.Arg142Trp in MARS2 lead to decreased MARS2 protein levels in patient lymphoblasts. Analysis of respiratory complex (RC) enzyme activities in patient fibroblasts revealed decreased Complex I and IV activities. Immunoblotting of patient fibroblast and lymphoblast samples revealed reduced protein levels of NDUFB8 and COXII, representing Complex I and IV respectively. Additionally, overexpression of wild-type MARS2 in patient fibroblasts increased NDUFB8 and COXII protein levels. These findings suggest that recessive single nucleotide mutations in MARS2 are causative for a new mitochondrial translation deficiency disorder with a primary phenotype including developmental delay and hypotonia. Identification of additional patients with single nucleotide mutations in MARS2 is necessary to determine if pectus carinatum is also a consistent feature of this syndrome. PMID:25754315

  18. 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

  19. 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…

  20. Controlled Evaluation of Support Groups for Grandparent Caregivers of Children with Developmental Disabilities and Delays

    ERIC Educational Resources Information Center

    McCallion, Philip; Janicki, Matthew P.; Kolomer, Stacey R.

    2004-01-01

    There have been growing reports of older women and men caring for their grandchildren and great grandchildren. Many of these grandparents are caring for children with developmental disabilities. To systematically examine the effectiveness of a support group intervention for such grandparents, we recruited 97 grandparents through three agencies in…

  1. 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.

  2. Effectiveness of Emotion Recognition Training for Young Children with Developmental Delays

    ERIC Educational Resources Information Center

    Downs, Andrew; Strand, Paul

    2008-01-01

    Emotion recognition is a basic skill that is thought to facilitate development of social and emotional competence. There is little research available examining whether therapeutic or instructional interventions can improve the emotion recognition skill of young children with various developmental disabilities. Sixteen preschool children with…

  3. 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…

  4. Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.

    PubMed

    Celestino-Soper, Patrícia Bs; Skinner, Cindy; Schroer, Richard; Eng, Patricia; Shenai, Jayant; Nowaczyk, Malgorzata Mj; Terespolsky, Deborah; Cushing, Donna; Patel, Gayle S; Immken, Ladonna; Willis, Alecia; Wiszniewska, Joanna; Matalon, Reuben; Rosenfeld, Jill A; Stevenson, Roger E; Kang, Sung-Hae L; Cheung, Sau Wai; Beaudet, Arthur L; Stankiewicz, Pawel

    2012-04-05

    Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP) cohort of 97 subjects with autism spectrum disorders (ASDs) and identified an ~ 5.4 Mb deletion on chromosome 6p22.3-p23 in a 15-year-old patient with intellectual disability and ASDs. Subsequent database queries revealed five additional individuals with overlapping submicroscopic deletions and presenting with developmental and speech delay, seizures, behavioral abnormalities, heart defects, and dysmorphic features. The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay.

  5. A boy with developmental delay and a maternally inherited deletion in 15q11q13.

    PubMed Central

    King, M; Hardy, C; Asenbauer, B; Kilpatrick, M; Webb, T

    1996-01-01

    A boy was referred at 8 weeks of age for failure to thrive. Cytogenetic and molecular studies showed that he had a large proximal deletion of the maternally derived chromosome 15q. He did not have Angelman syndrome, but at 2 years of age was severely globally delayed. He died at 2 1/2 years of age. Images PMID:8733057

  6. 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

  7. Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers.

    PubMed Central

    Say, B; Barber, N; Miller, G C; Grogg, S E

    1986-01-01

    Two brothers presented with unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. They both developed eczema in infancy and have had recurrent infections. Additional physical findings in both boys included hypogonadism, flexion contractures, hypoplastic patellae, and scoliosis. Their facial similarity was striking with sloping foreheads, beaked noses, large, protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were present in both boys in infancy. The hypogammaglobulinaemia was transient and improved, reaching normal levels by 3 1/2 years and 15 months, respectively. Defective chemotaxis and recurrent infections have persisted to the present. Both parents were normal. The mode of inheritance was not clear, as both X linked and autosomal recessive patterns were possible. Although patients with congenital malformations who also had immunodeficiency have previously been reported, immune system abnormalities, especially those of a transient nature, may frequently go unrecognised. Images PMID:3746838

  8. 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. PMID:24596481

  9. Global developmental delay, progressive relapsing-remitting parkinsonism, and spinal syrinx in a child with SOX6 mutation.

    PubMed

    Scott, Ori; Pugh, Jeffrey; Kiddoo, Darcie; Sonnenberg, Lyn K; Bamforth, Steven; Goez, Helly R

    2014-11-01

    SOX6, a member of the SOX gene family, plays a key role in the development of several mammalian tissues and organs, including the central nervous system. Specifically, this gene modulates the differentiation and proliferation of interneurons in the medial ganglionic eminence, as well as oligodendrocytes in the spinal cord. We describe the case of a 4-year-old girl with global developmental delay and a spinal cord syrinx who presented with recurrent episodes of parkinsonian symptoms subsequent to febrile illnesses. The symptoms included gait instability, tremor, and dysarthria, with a progressive relapsing-remitting course over the span of 2 years. The patient was later found to have a large deletion-type mutation in the SOX6 gene. This case is the first report in humans implying a role for SOX6 in basal ganglia function, as well as spinal cord development.

  10. 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.

  11. Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.

    PubMed

    Nelson, Marc; Quinonez, Shane; Ackley, Todd; Iyer, Ram K; Innis, Jeffrey W

    2011-03-01

    We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT-proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. Using high resolution chromosomal microarray analysis, we identified a de novo deletion of 555 kb on chromosome 16p13.3, 444 kb telomeric to the CREBBP gene and 623 kb centromeric of PKD1. Review of the literature revealed numerous reports of individuals with deletions involving adjacent regions including CREBBP, but only one overlapping with this isolated region of 16p13.3. Haploinsufficiency for one or more of the 25 candidate genes in the deleted genomic region may be responsible for these clinical features. No copy number variants (CNVs) span the entire region, but several small CNVs within the 555 kb genomic region reduce the likelihood for effects due to haploinsufficiency to 18 genes.

  12. 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.

  13. 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

  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. 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

  16. Nutritional state, maturational delay on electroencephalogram, and developmental outcome in extremely low birth weight infants.

    PubMed

    Okumura, Akihisa; Hayakawa, Masahiro; Oshiro, Makoto; Hayakawa, Fumio; Shimizu, Toshiaki; Watanabe, Kazuyoshi

    2010-09-01

    The aim of this study is to clarify the relation among developmental outcome, nutritional state during the neonatal period, maturational electroencephalographic changes. Thirteen extremely low birth weight infants who completed 6- or 9-year follow-up were a subject of this study. Undernutrition was defined as enteral feeding below 100mL/kg/day at 3 weeks of age. Dysmature patterns were defined as the persistence of EEG patterns 2 weeks or more immature for post-conceptional age. IQ was examined at 6 and 9 years of age. Body height and weight, and head circumference at 6 years of age were stratified by the percentile grades. Full and verbal IQ was significantly lower in infants with undernutrition than those with normal nutrition. Among infants with undernutrition, those with persistent dysmature patterns tended to have lower full and performance IQ than those without persistent dysmature patterns. Head circumference was 50 percentile or larger in all infants with normal nutrition, whereas it was below 50 percentile in six of eight infants with undernutrition. Extremely low birth weight infants with undernutrition had worse neurodevelopmental outcome at 6 or 9 years of age than those with normal nutrition. Among infants with undernutrition, developmental outcome was relatively worse in those with persistent dysmature patterns than those without.

  17. Maternal supportive and interfering control as predictors of adaptive and social development in children with and without developmental delays

    PubMed Central

    Green, S.; Caplan, B.; Baker, B.

    2016-01-01

    Background Parents of children with developmental delays (DD) have been found to use more controlling behaviour with their children than parents of children with typical development (TD). While controlling behaviour is related to poorer developmental outcomes in TD children, there is little research on how it predicts outcomes in DD children. Furthermore, existing research tends to use inconsistent or non-specific definitions of controlling behaviour, often combining parent control which follows the child’s goal (e.g. supportive direction) and that which interferes with the child’s goal (e.g. interference). Methods Participants were 200 mother–child dyads observed at child age 3, with follow-up assessments of adaptive behaviour and social skills administered at child ages 5 and 6, respectively. We coded the frequency of both types of controlling behaviour based on mothers’ interactions with their children with TD (n = 113) or DD (n = 87) at age 3. Results Mothers in the DD group used more interfering but not more supportive directive acts compared to mothers in the TD group. Adaptive behaviour was assessed at child age 5 and social skills were assessed at age 6. Higher frequency of supportive directive acts predicted better adaptive functioning for the TD group and better social skills for the DD group. Higher frequency of interfering acts predicted lower adaptive and social skills for children with DD but not with TD. Conclusions Results are discussed in terms of the differential developmental needs of children with and without DD as well as implications for early intervention. PMID:23865770

  18. 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.

  19. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

    PubMed

    Der Kaloustian, V M; Pelletier, M; Costa, T; Blackston, D R; Oudjhane, K

    2001-04-01

    We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome.

  20. 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

  1. Loss of glial neurofascin155 delays developmental synapse elimination at the neuromuscular junction.

    PubMed

    Roche, Sarah L; Sherman, Diane L; Dissanayake, Kosala; Soucy, Geneviève; Desmazieres, Anne; Lamont, Douglas J; Peles, Elior; Julien, Jean-Pierre; Wishart, Thomas M; Ribchester, Richard R; Brophy, Peter J; Gillingwater, Thomas H

    2014-09-17

    Postnatal synapse elimination plays a critical role in sculpting and refining neural connectivity throughout the central and peripheral nervous systems, including the removal of supernumerary axonal inputs from neuromuscular junctions (NMJs). Here, we reveal a novel and important role for myelinating glia in regulating synapse elimination at the mouse NMJ, where loss of a single glial cell protein, the glial isoform of neurofascin (Nfasc155), was sufficient to disrupt postnatal remodeling of synaptic circuitry. Neuromuscular synapses were formed normally in mice lacking Nfasc155, including the establishment of robust neuromuscular synaptic transmission. However, loss of Nfasc155 was sufficient to cause a robust delay in postnatal synapse elimination at the NMJ across all muscle groups examined. Nfasc155 regulated neuronal remodeling independently of its canonical role in forming paranodal axo-glial junctions, as synapse elimination occurred normally in mice lacking the axonal paranodal protein Caspr. Rather, high-resolution proteomic screens revealed that loss of Nfasc155 from glial cells was sufficient to disrupt neuronal cytoskeletal organization and trafficking pathways, resulting in reduced levels of neurofilament light (NF-L) protein in distal axons and motor nerve terminals. Mice lacking NF-L recapitulated the delayed synapse elimination phenotype observed in mice lacking Nfasc155, suggesting that glial cells regulate synapse elimination, at least in part, through modulation of the axonal cytoskeleton. Together, our study reveals a glial cell-dependent pathway regulating the sculpting of neuronal connectivity and synaptic circuitry in the peripheral nervous system. PMID:25232125

  2. Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

    PubMed Central

    Tayeh, Marwan K; Rocco, Tracy; Ackley, Todd; Ernst, Leslie; Glover, Thomas; Innis, Jeffrey W

    2015-01-01

    Key Clinical Message A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongenetic factors. PMID:26185636

  3. Implementing a Family Centered Program for Physically Impaired/Developmentally Delayed Preschool Children To Bridge the Therapeutic Gap between School and Home.

    ERIC Educational Resources Information Center

    Kluger, Karen P.

    This practicum addresses the problem of limited interaction between physical therapists and families of developmentally delayed/physically impaired preschool-age children. A program was developed in which the physical therapist was videotaped handling and exercising a child, while explaining the purpose of the movements and instructing the parent…

  4. The Differential Effects of the Use of Handwriting without Tears® Modified Gray Block Paper to Teach Two Preschool Students with Developmental Delays Capital Letter Writing Skills

    ERIC Educational Resources Information Center

    Griffith, Jessica; McLaughlin, T. F.; Neyman, Jen; Donica, Denise K.; Robison, Milena

    2013-01-01

    The purpose of this study was to evaluate and measure the effectiveness of Handwriting Without Tears (HWT) modified gray block paper with letter writing on two preschool students diagnosed with developmental delays in pre-academics. Two students were selected from a self-contained special education preschool classroom in the Pacific Northwest. All…

  5. 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…

  6. 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…

  7. Modeling Skills, Signs and Lettering for Children with Down Syndrome, Autism and Other Severe Developmental Delays by Video Instruction in Classroom Setting

    ERIC Educational Resources Information Center

    Biederman, G. B.; Freedman, B.

    2007-01-01

    This paper addresses optimal strategies in teaching essential life and communication skills to children with Down syndrome, autism and other developmental delays. Evidence from the literature concerning the relative efficacy of hand-over-hand (self-modeling) in contrast to passive observational teaching techniques (e.g., video modeling) shows the…

  8. 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;…

  9. 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…

  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. Is Maternal Influenza or Fever During Pregnancy Associated with Autism or Developmental Delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study

    ERIC Educational Resources Information Center

    Zerbo, Ousseny; Iosif, Ana-Maria; Walker, Cheryl; Ozonoff, Sally; Hansen, Robin L.; Hertz-Picciotto, Irva

    2013-01-01

    We analyzed data from case groups of 538 children with autism spectrum disorders (ASD) and 163 with developmental delays (DD), and from 421 typically developing controls to assess associations with maternal influenza or fever during pregnancy. Exposure information was obtained by telephone interviews, and outcomes were clinically confirmed. Though…

  12. 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.…

  13. Status of the States' Progress toward Developing a Definition for Developmentally Delayed as Required by P.L. 99-457, Part H.

    ERIC Educational Resources Information Center

    Harbin, Gloria L.; And Others

    A survey was conducted to determine states' progress towards developing a definition for developmentally delayed infants and toddlers as required by Public Law 99-457, Part H. Results of the survey, conducted in the summer of 1988, indicated that many states had made a great deal of progress toward developing a policy regarding the definition of…

  14. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

    PubMed

    Der Kaloustian, V M; Pelletier, M; Costa, T; Blackston, D R; Oudjhane, K

    2001-04-01

    We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome. PMID:11311002

  15. Developmental hypothyroxinaemia induced by maternal mild iodine deficiency delays hippocampal axonal growth in the rat offspring.

    PubMed

    Wei, W; Wang, Y; Wang, Y; Dong, J; Min, H; Song, B; Teng, W; Xi, Q; Chen, J

    2013-09-01

    Iodine is essential for the biosynthesis of thyroid hormones, including triiodothyronine and thyroxine. Thyroid hormones are important for central nervous system development. Mild maternal iodine deficiency (ID)-induced hypothyroxinaemia causes neurological deficits and mental retardation of the foetus. However, the detailed mechanism underlying these deficits is still largely unknown. Given that the growth-associated protein of 43 kDa (GAP-43), semaphorin 3A (Sema3A) and the glycogen synthase kinase 3β (GSK3β)/collapsin response mediator protein 2 (CRMP2) pathway are essential for axonal development, we hypothesise that hippocampal axonal growth-related proteins may be impaired, which may contribute to hippocampal axonal growth delay in rat offspring exposed to maternal hypothyroxinaemia. To test this hypothesis, maternal hypothyroxinaemia models were established in Wistar rats using a mild ID diet. Besides a negative control group, two maternal hypothyroidism models were created with either a severe ID diet or methimazole in the water. Our results showed that maternal hypothyroxinaemia exposure delayed offspring axonal growth on gestational day 19, postnatal day (PN) 7, PN14 and PN21. Consistent with this, the mean intensity of hippocampal CRMP2 and Tau1 immunofluorescence axonal protein was reduced in the mild ID group. Moreover, maternal hypothyroxinaemia disrupted expressions of GAP-43 and Sema3A. Furthermore, the phosphorylation of GSK3β and CRMP2 was also affected in the treated offspring, implying a potential mechanism by which hypothyroxinaemia-exposure affects neurodevelopment. Taken together, our data support the hypothesis that maternal hypothyroxinaemia may impair axonal growth of the offspring. PMID:23763342

  16. Developmental hypothyroxinaemia induced by maternal mild iodine deficiency delays hippocampal axonal growth in the rat offspring.

    PubMed

    Wei, W; Wang, Y; Wang, Y; Dong, J; Min, H; Song, B; Teng, W; Xi, Q; Chen, J

    2013-09-01

    Iodine is essential for the biosynthesis of thyroid hormones, including triiodothyronine and thyroxine. Thyroid hormones are important for central nervous system development. Mild maternal iodine deficiency (ID)-induced hypothyroxinaemia causes neurological deficits and mental retardation of the foetus. However, the detailed mechanism underlying these deficits is still largely unknown. Given that the growth-associated protein of 43 kDa (GAP-43), semaphorin 3A (Sema3A) and the glycogen synthase kinase 3β (GSK3β)/collapsin response mediator protein 2 (CRMP2) pathway are essential for axonal development, we hypothesise that hippocampal axonal growth-related proteins may be impaired, which may contribute to hippocampal axonal growth delay in rat offspring exposed to maternal hypothyroxinaemia. To test this hypothesis, maternal hypothyroxinaemia models were established in Wistar rats using a mild ID diet. Besides a negative control group, two maternal hypothyroidism models were created with either a severe ID diet or methimazole in the water. Our results showed that maternal hypothyroxinaemia exposure delayed offspring axonal growth on gestational day 19, postnatal day (PN) 7, PN14 and PN21. Consistent with this, the mean intensity of hippocampal CRMP2 and Tau1 immunofluorescence axonal protein was reduced in the mild ID group. Moreover, maternal hypothyroxinaemia disrupted expressions of GAP-43 and Sema3A. Furthermore, the phosphorylation of GSK3β and CRMP2 was also affected in the treated offspring, implying a potential mechanism by which hypothyroxinaemia-exposure affects neurodevelopment. Taken together, our data support the hypothesis that maternal hypothyroxinaemia may impair axonal growth of the offspring.

  17. Delayed diagnosis of developmental dysplasia of the hip in Northern Ireland: can we do better?

    PubMed

    Donnelly, K J; Chan, K W; Cosgrove, A P

    2015-11-01

    Developmental dysplasia of the hip (DDH) should be diagnosed as early as possible to optimise treatment. The current United Kingdom recommendations for the selective screening of DDH include a clinical examination at birth and at six weeks. In Northern Ireland babies continue to have an assessment by a health visitor at four months of age. As we continue to see late presentations of DDH, beyond one year of age, we hypothesised that a proportion had missed an opportunity for earlier diagnosis. We expect those who presented to our service with Tonnis grade III or IV hips and decreased abduction would have had clinical signs at their earlier assessments. We performed a retrospective review of all patients born in Northern Ireland between 2008 and 2010 who were diagnosed with DDH after their first birthday. There were 75 856 live births during the study period of whom 645 children were treated for DDH (8.5 per 1000). The minimum follow-up of our cohort from birth, to detect late presentation, was four years and six months. Of these, 32 children (33 hips) were diagnosed after their first birthday (0.42 per 1000). With optimum application of our selective screening programme 21 (65.6%) of these children had the potential for an earlier diagnosis, which would have reduced the incidence of late diagnosis to 0.14 per 1000. As we saw a peak in diagnosis between three and five months our findings support the continuation of the four month health visitor check. Our study adds further information to the debate regarding selective versus universal screening. PMID:26530663

  18. Delayed diagnosis of developmental dysplasia of the hip in Northern Ireland: can we do better?

    PubMed

    Donnelly, K J; Chan, K W; Cosgrove, A P

    2015-11-01

    Developmental dysplasia of the hip (DDH) should be diagnosed as early as possible to optimise treatment. The current United Kingdom recommendations for the selective screening of DDH include a clinical examination at birth and at six weeks. In Northern Ireland babies continue to have an assessment by a health visitor at four months of age. As we continue to see late presentations of DDH, beyond one year of age, we hypothesised that a proportion had missed an opportunity for earlier diagnosis. We expect those who presented to our service with Tonnis grade III or IV hips and decreased abduction would have had clinical signs at their earlier assessments. We performed a retrospective review of all patients born in Northern Ireland between 2008 and 2010 who were diagnosed with DDH after their first birthday. There were 75 856 live births during the study period of whom 645 children were treated for DDH (8.5 per 1000). The minimum follow-up of our cohort from birth, to detect late presentation, was four years and six months. Of these, 32 children (33 hips) were diagnosed after their first birthday (0.42 per 1000). With optimum application of our selective screening programme 21 (65.6%) of these children had the potential for an earlier diagnosis, which would have reduced the incidence of late diagnosis to 0.14 per 1000. As we saw a peak in diagnosis between three and five months our findings support the continuation of the four month health visitor check. Our study adds further information to the debate regarding selective versus universal screening.

  19. Pericentric inversion of chromosome 11 (p14.3q21) associated with developmental delays, hypopigmented skin lesions and abnormal brain MRI findings - a new case report

    SciTech Connect

    Zachor, D.A.; Lofton, M.

    1994-09-01

    We report 3 year old male, referred for evaluation of developmental delays. Pregnancy was complicated by oligohydramnios, proteinuria and prematurity. Medical history revealed: bilateral inguinal hernia, small scrotal sac, undescended testes, developmental delays and behavioral problems. The child had: microcephaly, facial dysmorphic features, single palmar creases, hypopigmented skin lesions of variable size, intermittent exotropia and small retracted testes. Neurological examination was normal. Cognitive level was at the average range with mild delay in his adaptive behavior. Expressive language delays and severe articulation disorder were noted, as well as clumsiness, poor control and precision of gross and fine motor skills. Chromosomal analysis of peripheral leukocytes indicated that one of the number 11 chromosomes had undergone a pericentric inversion with breakpoints on the short (p) arm at band p14.3 and the long (q) arm at band q21. An MRI of the brain showed mild delay in myelinization pattern of white matter. Chromosome 11 inversion in other sites was associated with Beckwith-Wiedemann syndrome and several malignancies. To our knowledge this is the first description of inv(11)(p14.3q21) that is associated with microcephaly, dysmorphic features, hypopigmented skin lesions and speech delay. This inversion may disrupt the expression of the involved genes. However, additional cases with the same cytogenetic anomaly are needed to explore the phenotypic significance of this disorder.

  20. 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

  1. 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

  2. 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. PMID:27626064

  3. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

    PubMed

    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

    2016-03-01

    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

  4. 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

  5. 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

  6. A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.

    PubMed

    Armstrong, Linlea; Jimenez, Carmencita; Hunter, Alasdair G W

    2003-05-15

    We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa.

  7. Predictors of Developmental Outcomes of High-Risk and Developmentally Delayed Infants and Children Enrolled in a State Early Childhood Intervention Program

    ERIC Educational Resources Information Center

    Giannoni, Peggy P.; Kass, Philip H.

    2012-01-01

    A retrospective cohort study was conducted to identify child, maternal, family, and community factors associated with rate of developmental disability among children enrolled in the California Early Start Program. The cohort included 8,987 children considered at high risk for developmental disability due to medical risks and/or developmental…

  8. Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

    PubMed

    Nakashima, Mitsuko; Takano, Kyoko; Osaka, Hitoshi; Aida, Noriko; Tsurusaki, Yoshinori; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi

    2014-08-01

    We report on a 1-year-old boy with microcephaly with a simplified gyral pattern, early-onset seizures, congenital hearing loss and a severe developmental delay. Trio-based whole-exome sequencing identified candidate compound heterozygous mutations in two genes: c.163G>T (p.Ala55Ser) and c.874G>A (p.Gly292Arg) in polynucleotide kinase 3'-phosphatase gene (PNKP), and c.195G>A (p.Met65Ile) and c.1210A>C (p.Ser404Arg) in PCDH15. PNKP and PCDH15 mutations have been reported in autosomal recessive microcephaly with early-onset seizures and developmental delay syndrome, and Usher syndrome type 1F, respectively. Our patient showed neurological features similar to reported cases of both syndromes that could be explained by the observed mutations in both PNKP and PCDH15, which therefore appear to be pathogenic in this case.

  9. 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.

  10. Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule with Young Children with Developmental Delay: Evaluating Diagnostic Validity

    ERIC Educational Resources Information Center

    Gray, Kylie M.; Tonge, Bruce J.; Sweeney, Deborah J.

    2008-01-01

    Few studies have focused on the validity of the ADI-R and ADOS in the assessment of preschool children with developmental delay. This study aimed to evaluate the diagnostic validity of the ADI-R and the ADOS in young children. Two-hundred and nine children aged 20-55 months participated in the study, 120 of whom received a diagnosis of autism.…

  11. 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

  12. Short-term family-centered workshop for children with developmental delays enhances family functioning and satisfaction: A prospective clinical trial.

    PubMed

    Hsieh, Ru-Lan; Hsieh, Wen-Huei; Lee, Wen-Chung

    2016-08-01

    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

  13. Developmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis.

    PubMed

    Caporali, Paola; Bruno, Francesco; Palladino, Giampiero; Dragotto, Jessica; Petrosini, Laura; Mangia, Franco; Erickson, Robert P; Canterini, Sonia; Fiorenza, Maria Teresa

    2016-01-01

    Niemann-Pick type C1 (NPC1) disease is a lysosomal storage disorder caused by defective intracellular trafficking of exogenous cholesterol. Purkinje cell (PC) degeneration is the main sign of cerebellar dysfunction in both NPC1 patients and animal models. It has been recently shown that a significant decrease in Sonic hedgehog (Shh) expression reduces the proliferative potential of granule neuron precursors in the developing cerebellum of Npc1 (-/-) mice. Pursuing the hypothesis that this developmental defect translates into functional impairments, we have assayed Npc1-deficient pups belonging to the milder mutant mouse strain Npc1 (nmf164) for sensorimotor development from postnatal day (PN) 3 to PN21. Npc1 (nmf164) / Npc1 (nmf164) pups displayed a 2.5-day delay in the acquisition of complex motor abilities compared to wild-type (wt) littermates, in agreement with the significant disorganization of cerebellar cortex cytoarchitecture observed between PN11 and PN15. Compared to wt, Npc1 (nmf164) homozygous mice exhibited a poorer morphological differentiation of Bergmann glia (BG), as indicated by thicker radial shafts and less elaborate reticular pattern of lateral processes. Also BG functional development was defective, as indicated by the significant reduction in GLAST and Glutamine synthetase expression. A reduced VGluT2 and GAD65 expression also indicated an overall derangement of the glutamatergic/GABAergic stimulation that PCs receive by climbing/parallel fibers and basket/stellate cells, respectively. Lastly, Npc1-deficiency also affected oligodendrocyte differentiation as indicated by the strong reduction of myelin basic protein. Two sequential 2-hydroxypropyl-β-cyclodextrin administrations at PN4 and PN7 counteract these defects, partially preventing functional impairment of BG and fully restoring the normal patterns of glutamatergic/GABAergic stimulation to PCs.These findings indicate that in Npc1 (nmf164) homozygous mice the derangement of synaptic

  14. Quantifying familial influences on brain activation during the monetary incentive delay task: An adolescent monozygotic twin study

    PubMed Central

    Silverman, Merav H.; Krueger, Robert F.; Iacono, William G.; Malone, Stephen M.; Hunt, Ruskin H.; Thomas, Kathleen M.

    2014-01-01

    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 forty-six 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. PMID:25101864

  15. 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...

  16. A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.

    PubMed

    Belengeanu, V; Gamage, T H; Farcas, S; Stoian, M; Andreescu, N; Belengeanu, A; Frengen, E; Misceo, D

    2014-04-10

    We report a 20-month-old girl ascertained at the age of 11 months for developmental delay. She presented with hypotonia and delayed motor development. The patient had severe language impairment and showed behaviour consistent with autism spectrum disorder. She was microcephalic with mild dysmorphic features and had joint hyperlaxity. We detected a 2.3 Mb de novo deletion in 2q24.2q24.3 on her paternal chromosome. We compare the clinical features of our patient to six previously published patients with a deletion in 2q24.2q24.3, and one patient reported in the ECARUCA database. Although the clinical presentation of these patients is not highly consistent, likely due to the different deletion size and gene content, the following features seem to be recurrent: disturbance in the central nervous system, poor growth, hypotonia, and joint hyperlaxity. The region deleted in our patient contains 13 genes including PSMD14, TBR1, SLC4A10, DPP4, KCNH7, and FIGN. We briefly review the knowledge of these genes and their possible involvement in the aetiology of this developmental delay syndrome. PMID:24508274

  17. Viability of developmental stages of Schistosoma mansoni quantified with xCELLigence worm real-time motility assay (xWORM)

    PubMed Central

    Rinaldi, Gabriel; Loukas, Alex; Brindley, Paul J.; Irelan, Jeff T.; Smout, Michael J.

    2015-01-01

    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. PMID:26288742

  18. 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.

  19. Teaching basic skills to children with Down syndrome and developmental delays: the relative efficacy of interactive modeling with social rewards for benchmark achievements and passive observation.

    PubMed

    Biederman, G B; Fairhall, J L; Raven, K A; Davey, V A

    1998-01-01

    In interventions attempting to remediate deficiencies in the skills repertoire of developmentally delayed children, no less than in medical interventions, it may be fairly said that less is more. That is, the instructor should intervene as little as possible both from the perspective of efficient instructional practice and from time allotment concerns which modern classrooms face. Evidence from this laboratory has indicated that in skills training for children with severe developmental delays the passive observation of a model demonstrating the target skill is more effective than interactive modeling involving hand-over-hand instruction with verbal prompting. We have considered the role of verbal prompting in interactive modeling and have found that prompts intended to provide typical social reinforcers are counterproductive (e.g., Biederman, Davey, Ryder, & Franchi, 1994). The present study examines the efficacy of hand-over-hand modeling with response-contingent verbal prompts. In such instruction, tasks are divided into identifiable sequential components, and the achievement of each component is marked by the delivery of some form of verbal prompt. In a within-subjects design, children were trained in one skill with response-contingent verbal prompts and in a second skill with simple passive observation. A separate group of children were trained with less rigorous verbal prompting in one skill and with passive observation in a second. Consistent with previous research, we found that passive modeling was overall significantly more effective than hand-over-hand modeling and moreover that passive modeling was significantly more effective than hand-over-hand modeling with response-contingent prompting. Our evidence therefore indicates that current classroom practice in training basic skills to children with severe developmental delays may require reassessment in that simple observation of modeled skills appears to be more effective than more labor

  20. 46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

    PubMed Central

    Brandt, Tracy; Blanchard, Leah; Desai, Khyati; Nimkarn, Saroj; Cohen, Ninette; Edelmann, Lisa; Mehta, Lakshmi

    2013-01-01

    Steroidogenic factor 1 (SF1) is a nuclear receptor encoded by the NR5A1 gene. SF1 affects both sexual and adrenal development through the regulation of target gene expression. Genotypic male and female SF1 knockout mice have adrenal and gonadal agenesis with persistent Müllerian structures and early lethality. There have been several reports of NR5A1 mutations in individuals with 46,XY complete gonadal dysgenesis (CGD) or other disorders of sex development (DSD) with or without an adrenal phenotype. To date microdeletions involving NR5A1 have been reported in only two patients with DSDs. We report a novel microdeletion encompassing NR5A1 in a patient with 46,XY DSD and developmental delay. The phenotypically female patient initially presented with mild developmental delay and dysmorphisms. Chromosome analysis revealed a 46,XY karyotype. A 1.54 Mb microdeletion of chromosome 9q33.3 including NR5A1 was detected by array CGH and confirmed by FISH. Normal maternal FISH results indicated that this was most likely a de novo event. Since most NR5A1 mutations have been ascertained through gonadal or adrenal abnormalities, the additional findings of developmental delay and minor facial dysmorphisms are possibly related to haploinsufficiency of other genes within the 1.54 Mb deleted region. This report further confirms the role of NR5A1 deletions in 46,XY DSD and reinforces the utility of aCGH in the work up of DSDs of unclear etiology. PMID:24056159

  1. 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.

  2. The Effects of Embedded Skill Instruction on the Acquisition of Target and Nontarget Skills in Preschoolers with Developmental Delays.

    ERIC Educational Resources Information Center

    Daugherty, Stefanie; Grisham-Brown, Jennifer; Hemmeter, Mary Louise

    2001-01-01

    In the current study, a constant time delay (CTD) procedure was embedded in classroom activities and routines to teach counting to three preschool children with speech and language delays. CTD was effective in teaching numbers to all three children. One child out of two also was able to acquire non-target information. (Contains references.) (CR)

  3. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

    PubMed

    Chung, Brian H Y; Stavropoulos, James; Marshall, Christian R; Weksberg, Rosanna; Scherer, Stephen W; Yoon, Grace

    2011-02-01

    We report on a female patient with a de novo interstitial deletion of chromosome region 2q23.1-23.3 identified by array-CGH. She had significant global delay with developmental regression at age 6 years. She developed seizures at age 3 years with progressive difficulties with balance, loss of fine motor skills and aggressive behavior. She had short stature, microcephaly, and distinct facial features. Her speech was dysarthric, and she demonstrated repetitive hand movements. In this article, we compare the clinical features of our patient with previously reported cases with a 2q23.1 deletion.

  4. Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.

    PubMed

    Tufano, Maria; Cappuccio, Gerarda; Terrone, Gaetano; Manganelli, Fiore; Pisciotta, Chiara; Geroldi, Alessandro; Capponi, Simona; Del Giudice, Ennio

    2015-12-01

    Charcot-Marie-Tooth (CMT) syndromes are a group of clinically heterogeneous disorders of the peripheral nervous system. Mutations of mitofusin 2 (MFN2) have been recognized to be associated with CMT type 2A (CMT2A). CMT2A is primarily an axonal disorder resulting in motor and sensory neuropathy. We report a male child with psychomotor delay, dysmorphic features, and weakness of lower limbs associated with electrophysiological features of severe, sensory-motor, axonal neuropathy. The patient was diagnosed with early onset CMT2A and severe psychomotor retardation associated with c.310C>T mutation (p.R104W) in MFN2 gene. CMT2A should be considered in patients with both axonal sensory-motor neuropathy and developmental delay.

  5. A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism

    PubMed Central

    Choi, Young-Jin; Shin, Eunsim; Jo, Tae Sik; Lee, Se-Min; Kim, Joo-Hwa; Oh, Jae-Won; Kim, Chang-Ryul; Seol, In Joon

    2016-01-01

    We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1–q44 (copy gain) and 18q21.33–18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18)(q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities. PMID:26958068

  6. Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.

    PubMed

    Koufaris, Costas; Alexandrou, Angelos; Papaevripidou, Ioannis; Alexandrou, Ioanna; Christophidou-Anastasiadou, Violetta; Sismani, Carolina

    2016-09-01

    Prader-Willi syndrome is a rare syndrome characterized by hypotonia, developmental delay and excessive appetite. This syndrome is caused by the loss of function of paternally-expressed genes located in an imprinting centre in 15q11-q13. Here, we report the case of a patient who was referred to us with Prader-Willi syndrome-like symptoms including obesity and developmental delay. Examination of this patient revealed that he was a carrier of a paternally inherited deletion that affected the U1B and U1B* upstream exons of the SNURF-SNRNP gene within the 15q11-q13 imprinted region. Mutations localized within this genomic region have not been previously reported in Prader-Willi syndrome patients. It is possible that disruption of upstream exons of SNURF-SNRNP could contribute to Prader-Willi phenotype by disrupting brain-specific alternative transcripts, although, case reports from further patients with a comparable phenotype are required. PMID:27659333

  7. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

    PubMed Central

    Zahir, Farah; Firth, Helen V; Baross, Agnes; Delaney, Allen D; Eydoux, Patrice; Gibson, William T; Langlois, Sylvie; Martin, Howard; Willatt, Lionel; Marra, Marco A; Friedman, Jan M

    2007-01-01

    Methods and results: We identified de novo submicroscopic chromosome 14q11.2 deletions in two children with idiopathic developmental delay and cognitive impairment. Vancouver patient 5566 has a ∼200 kb deletion and Vancouver patient 8326 has a ∼1.6 Mb deletion. The Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER) revealed a third patient with idiopathic developmental delay and cognitive impairment, DECIPHER patient 126, who has a ∼1.1 Mb deletion of 14q11.2. The deletion of patient 5566 overlaps that of patient 126 and both of these deletions lie entirely within that of patient 8326. All three children have similar dysmorphic features, including widely‐spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip and similar auricular anomalies. Conclusion: The minimal common deletion region on chromosome 14q11.2 is only ∼35 kb (from 20.897 to 20.932, University of California at Santa Cruz (UCSC) Genome Browser; build hg18, March 2006) and includes only two genes, SUPT16H and CHD8, which are good candidate genes for the phenotypes. The non‐recurrent breakpoints of these patients, the presence of normal copy number variants in the region and the local genomic structure support the notion that this region has reduced stability. PMID:17545556

  8. 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.

  9. 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

  10. 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. PMID:21742050

  11. 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…

  12. 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…

  13. Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression

    PubMed Central

    Kim, Hyoung-Mi; Billings, Sara; Nakaya, Kazuhiro; Li, Xiangming; Singh, Ruchira; Sharlin, David S.; Forrest, Douglas; Marcus, Daniel C.; Fong, Peying

    2009-01-01

    Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger located in the cochlea, thyroid, and kidney. The goal of the present study was to determine whether developmental delays, possibly mediated by systemic or local hypothyroidism, contribute to the failure to develop hearing in mice lacking Slc26a4 (Slc26a4−/−). We evaluated thyroid function by voltage and pH measurements, by array-assisted gene expression analysis, and by determination of plasma thyroxine levels. Cochlear development was evaluated for signs of hypothyroidism by microscopy, in situ hybridization, and quantitative RT-PCR. No differences in plasma thyroxine levels were found in Slc26a4−/− and sex-matched Slc26a4+/− littermates between postnatal day 5 (P5) and P90. In adult Slc26a4−/− mice, the transepithelial potential and the pH of thyroid follicles were reduced. No differences in the expression of genes that participate in thyroid hormone synthesis or ion transport were observed at P15, when plasma thyroxine levels peaked. Scala media of the cochlea was 10-fold enlarged, bulging into and thereby displacing fibrocytes, which express Dio2 to generate a cochlear thyroid hormone peak at P7. Cochlear development, including tunnel opening, arrival of efferent innervation at outer hair cells, endochondral and intramembraneous ossification, and developmental changes in the expression of Dio2, Dio3, and Tectb were delayed by 1–4 days. These data suggest that pendrin functions as a HCO3− transporter in the thyroid, that Slc26a4−/− mice are systemically euthyroid, and that delays in cochlear development, possibly due to local hypothyroidism, lead to the failure to develop hearing. PMID:19692489

  14. 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

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

    2016-01-01

    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, 1.2nM) for 20h (4-24h 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

  15. Micronutrient deficiencies and developmental delays among infants: evidence from a cross-sectional survey in rural China

    PubMed Central

    Luo, Renfu; Shi, Yaojiang; Zhou, Huan; Yue, Ai; Zhang, Linxiu; Sylvia, Sean; Medina, Alexis; Rozelle, Scott

    2015-01-01

    Objectives Research increasingly indicates the importance of the nutritional programming that occurs in the first 2–3 years of life. Quality nutrition during this brief window has been shown to have large and significant effects on health and development throughout childhood and even into adulthood. Despite the widespread understanding of this critical window, and the long-term consequences of leaving nutritional deficiencies unaddressed, little is known about the status of infant nutrition in rural China, or about the relationship between infant nutrition and cognitive development in rural China. Design, setting and participants In April 2013 and October 2013, we conducted a survey of 1808 infants aged 6–12 months living in 351 villages across 174 townships in nationally designated poverty counties in rural areas of southern Shaanxi Province, China. Main outcome measures Infants were administered a finger prick blood test for haemoglobin and assessed according to the Bayley Scales of Infant Development. They were also measured for length and weight. Caregivers were administered a survey of demographic characteristics and feeding practices. Results We found that 48.8% of sample infants were anaemic, 3.7% were stunted, 1.2% were underweight and 1.6% were wasted. Approximately 20.0% of the sample infants were significantly delayed in their cognitive development, while just over 32.3% of the sample infants were significantly delayed in their psychomotor development. After controlling for potential confounders, infants with lower haemoglobin counts were significantly more likely to be delayed in both their cognitive (p<0.01) and psychomotor development (p<0.01). Conclusions The anaemia rates that we identify in this study classify anaemia as a ‘severe’ public health problem according to the WHO. In contrast, there is virtually no linear growth failure among this population. We find that low haemoglobin levels among our sample population are associated with

  16. Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

    PubMed

    Sauter, S M; Böhm, Detlef; Bartels, Iris; Burfeind, Peter; Laccone, Franco A; Neesen, Jürgen; Wilken, Bernd; Liehr, Thomas; Zoll, Barbara

    2007-05-15

    We report on a 2 7/12-year-old girl who was referred to us because of psychomotor developmental delay. She is the second child of healthy, non-consanguineous parents. Pregnancy and birth were uneventful. Milestones of motor development were delayed: grasping at 6 months, sitting without support at 16 months, crawling at 16 months and walking at 2 4/12 years of age. She spoke about five words and followed simple instructions. Banding cytogenetics revealed a numerically and structurally normal female karyotype of 46,XX. By quantitative real-time PCR analysis of all subtelomeric regions, a partial trisomy of the subtelomeric region of 19q could be detected. This result was confirmed by FISH-analysis with a subtelomeric probe for 19q. The additional material of chromosome 19q was localized on chromosome 6q. However, a deletion of the subtelomeric region of 6q could not be detected with a subtelomeric FISH probe for 6q. Conventional cytogenetic analysis as well as FISH with subtelomeric probes for 19q and 6q showed normal results in the parents. The detected chromosomal aberration probably occurred de novo. The clinical features are very likely to be caused solely by the partial trisomy 19q.

  17. A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.

    PubMed

    Zhao, Jianhua; Noon, Sarah E; Krantz, Ian D; Wu, Yaning

    2016-06-01

    We report on a 4-year-old female who presented with unilateral sensorineural hearing loss and a concern for developmental delay. A genome-wide SNP array analysis was performed and revealed a de novo 3.2 Mb interstitial deletion of chromosome 7q31.2q31.31. This region contains thirteen protein-encoding genes. It is unknown whether haploinsufficiency of any of these genes is responsible for the clinical features of our patient. We reviewed, the clinical phenotype of a previously published 7q31.3 deletion patient and 18 additional patients with overlapping 7q31 deletions listed in the DECIPHER database. The most consistent feature in these patients and our proband is delayed speech and language development. Hearing loss is presented both in our proband and the published 7q31.3 patient. Our study suggests that a small region on chromosome 7q31.3 encompassing four genes, CFTR, CTTNBP2, NAA38, and ANKRD7, may represent a new locus for congenital hearing loss and/or speech development. © 2016 Wiley Periodicals, Inc. PMID:27075776

  18. 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…

  19. Hypoxia-Induced Developmental Delays of Inhibitory Interneurons Are Reversed by Environmental Enrichment in the Postnatal Mouse Forebrain

    PubMed Central

    Komitova, Mila; Xenos, Dionysios; Salmaso, Natalina; May Tran, Kathy; Brand, Theresa; Schwartz, Michael L.; Ment, Laura

    2013-01-01

    Infants born premature experience hypoxic episodes due to immaturity of their respiratory and central nervous systems. This profoundly affects brain development and results in cognitive impairments. We used a mouse model to examine the impact of hypoxic rearing (9.5–10.5% O2) from postnatal day 3 to 11 (P3–P11) on GABAergic interneurons and the potential for environmental enrichment to ameliorate these developmental abnormalities. At P15 the numbers of cortical interneurons expressing immunohistochemically detectable levels of parvalbumin (PV), somatostatin (SST), and vasoactive intestinal peptide were decreased in hypoxic-reared mice by 59%, 32%, and 38%, respectively, compared with normoxic controls. Hypoxia also decreased total GABA content in frontal neocortex by 31%. However, GAD67-EGFP knock-in mice reared under hypoxic conditions showed no changes in total number of GAD67-EGFP+ cells and no evidence of increased interneuron death, suggesting that the total number of interneurons was not decreased, but rather, that hypoxic-rearing decreased interneuron marker expression in these cells. In adulthood, PV and SST expression levels were decreased in hypoxic-reared mice. In contrast, intensity of reelin (RLN) expression was significantly increased in adult hypoxic-reared mice compared with normoxic controls. Housing mice in an enriched environment from P21 until adulthood normalized phenotypic interneuron marker expression without affecting total interneuron numbers or leading to increased neurogenesis. Our data show that (1) hypoxia decreases PV and SST and increases RLN expression in cortical interneurons during postnatal cortical development and (2) enriched environment has the capacity to normalize the interneuron abnormalities in cortex. PMID:23946395

  20. 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

    2016-02-01

    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.

  1. 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.

  2. 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. PMID:24259184

  3. 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

  4. Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature.

    PubMed

    Sivasankaran, Aswini; Kanakavalli, Murthy K; Anuradha, Deenadayalu; Samuel, Chandra R; Kandukuri, Lakshmi R

    2016-01-01

    Ring chromosomes have been described for all human chromosomes and are typically associated with physical and/or mental abnormalities resulting from a deletion of the terminal ends of both chromosome arms. This report describes the presence of a ring chromosome 9 in a 2-year-old male child associated with developmental delay. The proband manifested a severe phenotype comprising facial dysmorphism, congenital heart defects, and seizures. The child also exhibited multiple cell lines with mosaic patterns of double rings, a dicentric ring and loss of the ring associated with mitotic instability and dynamic tissue-specific mosaicism. His karyotype was 46,XY,r(9)(p22q34)[89]/46,XY,dic r(9; 9)(p22q34;p22q34)[6]/45, XY,-9[4]/47,XY,r(9),+r(9)[1]. However, the karyotypes of his parents and elder brother were normal. FISH using mBAND probe and subtelomeric probes specific for p and q arms for chromosome 9 showed no deletion in any of the regions. Chromosomal microarray analysis led to the identification of a heterozygous deletion of 15.7 Mb from 9p22.3 to 9p24.3. The probable role of the deleted genes in the manifestation of the phenotype of the proband is discussed.

  5. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.

    PubMed

    Eto, Kaoru; Sakai, Norio; Shimada, Shino; Shioda, Mutsuki; Ishigaki, Keiko; Hamada, Yusuke; Shinpo, Michiko; Azuma, Junji; Tominaga, Koji; Shimojima, Keiko; Ozono, Keiichi; Osawa, Makiko; Yamamoto, Toshiyuki

    2013-12-01

    Interstitial deletions of chromosome 3 are rare, and only one patient with a microdeletion of 3p21.31 has been reported to date. We identified two additional cases of patients with microdeletions of 3p21.31. The characteristic clinical features of developmental delay and distinctive facial features (including arched eyebrows, hypertelorism, epicanthus, and micrognathia) were seen both in the previously reported patient and in the two newly identified patients. In these two new cases, additional features, including elevated serum creatine kinase levels and characteristic neuroradiological features with white matter involvement, were seen. These features had not been described in the previous case in which the patient was examined during infancy, suggesting an age-dependent mechanism. The shortest region of overlap among the three deletions narrowed down the candidate genes that may be responsible for the common neurological features to the bassoon (presynaptic cytomatrix protein) gene (BSN), which has an important function in neuronal synapses. In this study, we confirmed common phenotypic features in the patients with microdeletions of 3p21.31 and identified additional features that have not been reported previously. Because the constellation of such characteristic features is quite unique, clinical manifestations of the patients with microdeletions of 3p21.31 would be clinically recognizable as a contiguous gene deletion syndrome.

  6. Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature.

    PubMed

    Sivasankaran, Aswini; Kanakavalli, Murthy K; Anuradha, Deenadayalu; Samuel, Chandra R; Kandukuri, Lakshmi R

    2016-01-01

    Ring chromosomes have been described for all human chromosomes and are typically associated with physical and/or mental abnormalities resulting from a deletion of the terminal ends of both chromosome arms. This report describes the presence of a ring chromosome 9 in a 2-year-old male child associated with developmental delay. The proband manifested a severe phenotype comprising facial dysmorphism, congenital heart defects, and seizures. The child also exhibited multiple cell lines with mosaic patterns of double rings, a dicentric ring and loss of the ring associated with mitotic instability and dynamic tissue-specific mosaicism. His karyotype was 46,XY,r(9)(p22q34)[89]/46,XY,dic r(9; 9)(p22q34;p22q34)[6]/45, XY,-9[4]/47,XY,r(9),+r(9)[1]. However, the karyotypes of his parents and elder brother were normal. FISH using mBAND probe and subtelomeric probes specific for p and q arms for chromosome 9 showed no deletion in any of the regions. Chromosomal microarray analysis led to the identification of a heterozygous deletion of 15.7 Mb from 9p22.3 to 9p24.3. The probable role of the deleted genes in the manifestation of the phenotype of the proband is discussed. PMID:27222354

  7. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

    PubMed

    Noh, Grace J; Graham, John M

    2012-01-01

    We report a 2-year-old female who initially presented with seizures, developmental delay and dysmorphic features and was found to have a 0.3 Mb deletion at chromosome 2q23.1 encompassing the critical seizure gene, MBD5. Her distinct physical features include bifrontal narrowing with brachycephaly, low anterior hairline, hypotonic facial features with short upturned nose, flat nasal bridge, hypertelorism, tented upper lip with everted lower lip, downturned corners of her mouth, and relatively coarse facial features including thickened tongue. She also had a short neck, brachytelephalangy, clinodactyly, and hypertrichosis. At 3½ years she developed progressive ataxia and lost vocabulary at the age of 4. Regression has been reported in one other case of MBD5 deletion. MBD5 is a member of the methyl binding gene family and appears to be responsible for regulating DNA methylation in the central nervous system. Our patient was entirely deleted for the MBD5 gene with partial loss of the EPC2 gene, which suggests that haploinsufficiency of MBD5 is responsible for the distinct phenotype observed. This supports the hypothesis that MBD5 is indeed the critical gene implicated for the findings seen in patients with deletions of chromosome 2q23.1. Further studies are necessary to delineate the role that the MBD5 gene plays in the development of the brain and these specific physical characteristics.

  8. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

    PubMed

    Noh, Grace J; Graham, John M

    2012-05-01

    We report a 2-year-old female who initially presented with seizures, developmental delay and dysmorphic features and was found to have a 0.3 Mb deletion at chromosome 2q23.1 encompassing the critical seizure gene, MBD5. Her distinct physical features include bifrontal narrowing with brachycephaly, low anterior hairline, hypotonic facial features with short upturned nose, flat nasal bridge, hypertelorism, tented upper lip with everted lower lip, downturned corners of her mouth, and relatively coarse facial features including thickened tongue. She also had a short neck, brachytelephalangy, clinodactyly, and hypertrichosis. At 3½ years she developed progressive ataxia and lost vocabulary at the age of 4. Regression has been reported in one other case of MBD5 deletion. MBD5 is a member of the methyl binding gene family and appears to be responsible for regulating DNA methylation in the central nervous system. Our patient was entirely deleted for the MBD5 gene with partial loss of the EPC2 gene, which suggests that haploinsufficiency of MBD5 is responsible for the distinct phenotype observed. This supports the hypothesis that MBD5 is indeed the critical gene implicated for the findings seen in patients with deletions of chromosome 2q23.1. Further studies are necessary to delineate the role that the MBD5 gene plays in the development of the brain and these specific physical characteristics.

  9. [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. PMID:27137828

  10. A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.

    PubMed

    Lebedev, Igor N; Nazarenko, Lyudmila P; Skryabin, Nikolay A; Babushkina, Nadezhda P; Kashevarova, Anna A

    2016-08-01

    The widespread application of array comparative genomic hybridization (aCGH) has provided new insights into the clinical significance of copy number variations (CNVs) in the human genome. Many microdeletion syndromes have recently been linked to corresponding reciprocal microduplication syndromes related to CNVs in the same chromosomal regions. However, the extent of CNVs may not be restricted to only microduplications but may also include microtriplications or even quadruplications. 4q21 microdeletion syndrome is one of these recently described syndromes. The phenotype includes growth restriction, neonatal hypotonia, severe developmental delay, absent or delayed speech, and distinct facial features. The minimal critical deleted region, which is 1.3 Mb in size, contains the PRKG2, RASGEF1B, HNRNPD, HNRPDL, and ENOPH1 genes. Here, we report a 5.4-year-old girl with developmental delay, absence of speech, muscular hypertension, macrocephaly, a broad forehead, frontal bossing, relatively elongated extremities, a vascular malignant hemangioma in anamnesis, and elongated sigmoid colon. aCGH revealed a microtriplication at 4q21.21-q21.22 that was 1.61 Mb in size. This de novo microtriplication included nine genes (BMP3, PRKG2, RASGEF1B, HNRNPD, HNRPDL, ENOPH1, TMEM150C, LINC00575, and SCD5) and overlapped with the minimal critical region for 4q21 microdeletion syndrome. Some clinical features of the patient were similar to those of 4q21 microdeletion (macrocephaly, frontal bossing, developmental delay, absence of speech, and anxiety), whereas others were mirrored (elongated extremities and muscular hypertension). The first identified case of a de novo microtriplication at 4q21.21-q21.22 emphasizes the clinical significance of CNVs at 4q21 for patients with developmental delay and absence of speech. © 2016 Wiley Periodicals, Inc. PMID:27288323

  11. AB086. Chromosomal microarray analysis—detection of both duplication and deletion in patients with multiple congenital anomalies and/or developmental delay

    PubMed Central

    Ee, Hui Jing; Yon, Hui Yi; Tan, Mui Li; Roch, Robin; Brett, Maggie; Yong, Min Hwee; Law, Hai Yang; Lai, Angeline

    2015-01-01

    Background and objective Chromosomal microarray analysis (CMA) is recommended as first-tier genetic testing for patients with multiple congenital anomalies, developmental delay/intellectual disability and/or autism spectrum disorder. It detects chromosomal imbalance at a higher resolution than conventional chromosomal analysis. CMA diagnostic service was launched in our hospital in February 2014. The aim of this report is to review the incidence of detecting both duplication and deletion in patients referred for this test. Methods DNA was extracted using Gentra Puregene Blood Kit. CMA was performed using the Agilent 4×180 K CGH + SNP array and analysed with Agilent CytoGenomics. G-banding analysis was carried out on stimulated lymphocytes culture. Targeted fluorescence in-situ hybridization (FISH) was performed using locus specific probes. Results From 1 February 2014 to 31 May 2015, a total of 205 patients were tested. Seven (3.4%) were identified to have both duplication and deletion of chromosomal segments that were pathogenic [5] or of uncertain clinical significance [2]. We present a case of a 1-day-old Chinese girl with oligohydramnios, prematurity (35+5 weeks) and multiple congenital anomalies including heart defect, cleft palate, ear anomalies, microcephaly, vaginal skin tag, bilateral clinodactyly and wide anterior fontanelle. Karyotyping and FISH analysis for 22q11 deletion were normal. CMA revealed a pathogenic gain of 2.143 Mb at 16p13.3 and a pathogenic loss of 0.271 Mb at 16q24.2q24.3. The gain at 16p13.3 affects 67 genes including CREBBP. The 16p13.3 duplication syndrome is a contiguous gene syndrome characterized by normal to moderate intellectual disability, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs, characteristic facial features and occasionally, developmental defects of the heart, genitalia, palate or eyes. The 0.271 Mb deletion at 16q24.3 affects four genes including ANKRD11 and CDH15. The clinical

  12. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

    PubMed Central

    Reijnders, Margot R.F.; Zachariadis, Vasilios; Latour, Brooke; Jolly, Lachlan; Mancini, Grazia M.; Pfundt, Rolph; Wu, Ka Man; van Ravenswaaij-Arts, Conny M.A.; Veenstra-Knol, Hermine E.; Anderlid, Britt-Marie M.; Wood, Stephen A.; Cheung, Sau Wai; Barnicoat, Angela; Probst, Frank; Magoulas, Pilar; Brooks, Alice S.; Malmgren, Helena; Harila-Saari, Arja; Marcelis, Carlo M.; Vreeburg, Maaike; Hobson, Emma; Sutton, V. Reid; Stark, Zornitza; Vogt, Julie; Cooper, Nicola; Lim, Jiin Ying; Price, Sue; Lai, Angeline Hwei Meeng; Domingo, Deepti; Reversade, Bruno; Gecz, Jozef; Gilissen, Christian; Brunner, Han G.; Kini, Usha; Roepman, Ronald; Nordgren, Ann; Kleefstra, Tjitske

    2016-01-01

    Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Four females from our cohort were identified by targeted genetic testing because their phenotype was suggestive for USP9X mutations. In several females, pigment changes along Blaschko lines and body asymmetry were observed, which is probably related to differential (escape from) X-inactivation between tissues. Expression studies on both mRNA and protein level in affected-female-derived fibroblasts showed significant reduction of USP9X level, confirming the loss-of-function effect of the identified mutations. Given that some features of affected females are also reported in known ciliopathy syndromes, we examined the role of USP9X in the primary cilium and found that endogenous USP9X localizes along the length of the ciliary axoneme, indicating that its loss of function could indeed disrupt cilium-regulated processes. Absence of dysregulated ciliary parameters in affected female-derived fibroblasts, however, points toward spatiotemporal specificity of ciliary USP9X (dys-)function. PMID:26833328

  13. Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication.

    PubMed

    Pope, Kathleen; Samanich, Joy; Ramesh, K H; Cannizzaro, Linda; Pan, Qiulu; Babcock, Melanie

    2012-03-01

    We report on a child with dextrocardia, atrial septal defect (ASD), severe developmental delay, hypotonia, 13 pairs of ribs, left preauricular choristoma, hirsutism, and craniofacial abnormalities. Prenatal cytogenetic evaluation showed karyotype 46,XY,?dup(8p)ish del(8)pter. Postnatal array CGH demonstrated a 6.8 Mb terminal deletion at 8p23.3-p23, an interstitial 31.1 Mb duplication within 8p23.1-p11, and a terminal duplication of 0.24 Mb at 22q13.33, refining the karyotype to 46,XY,der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1).ish der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1) (D8S504-,MS607 + ,ARSA + ,D8Z1 + , RP115713 + +). Previous reports of distal 8p deletion, 8p duplication, and distal 22q duplication have shown similar manifestations, including congenital heart disease, intellectual impairment, and multiple minor anomalies. We correlate the patient's clinical findings with these particular areas of copy number. This case study supports the use of aCGH to identify subtle chromosomal rearrangement in infants with cardiac malformation as their most significant or only apparent birth defect. Additionally, it illustrates why aCGH is essential in the description of chromosome rearrangements, even those seemingly visible via routine karyotype. This method shows that there is often greater complexity submicroscopically, essential to an adequate understanding of a patient's genotype and phenotype.

  14. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    PubMed

    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

    2015-03-01

    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

  15. 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

  16. 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

  17. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    PubMed

    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

    2015-03-01

    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).

  18. 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…

  19. 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

  20. 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.

  1. 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.

  2. Developmental Milestones.

    PubMed

    Scharf, Rebecca J; Scharf, Graham J; Stroustrup, Annemarie

    2016-01-01

    • On the basis of observational studies (level C), preterm birth is a leading cause of neurodevelopmental disabilities in children, and the degree of neurodevelopmental disability is inversely correlated with gestational age at birth. When comparing performance of preterm children to developmental norms, “corrected age” or age from due date rather than birth date should be used for the first 24 to 36 months. • On the basis of observational studies (level C), clinicians should pay specific attention to sensory function in children born preterm because the incidence of visual and hearing impairments is higher in preterm than term children. Due to the elevated risk of cognitive and behavioral disabilities, clinicians caring for children born preterm should be vigilant when performing developmental assessments to improve outcomes. • On the basis of observational studies (level C), early identification of developmental delays allows for referral to therapeutic services, and children referred for early intervention are more likely to make gains in developmental milestones. PMID:26729779

  3. A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.

    PubMed

    Gamage, Thilini H; Misceo, Doriana; Fannemel, Madeleine; Frengen, Eirik

    2013-07-01

    We report a 14 year old male patient ascertained for developmental delay, carrying a de novo pericentric inversion on chr(7)(p14.3q22.3). Sequencing revealed that the breakpoints overlap a LTR sequence on 7q22.3 and a LINE on 7p14.3. A TTTAAA motif was found in proximity of the breakpoints on both arms. In addition the sequencing detected several small micro-rearrangements, deletion, duplication, insertion, at the breakpoints. No significant sequence identity exists between the 7p14.3 and 7q22.3 breakpoints. These features at the breakpoint junctions suggest that the inversion was triggered by the TTTAAA motif, LTR and LINE and healed by a Non Homologous End Joining (NHEJ) mechanism. The genes ATXN7L1 and PDE1C are disrupted by the inversion. PDE1C is responsible for the hydrolysis of the second messenger molecules cAMP and cGMP and is highly expressed in the human heart and certain brain regions. In mice, Pde1c is expressed in migrating neuronal cells within the central nervous system during early embryo development. Although neuronal migration disorder was not seen in our patient, this is the first patient described with haploinsufficiency of PDE1C possibly causing developmental delay.

  4. 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…

  5. 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…

  6. Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.

    PubMed

    Chen, C P; Lin, S P; Chen, M R; Su, Y N; Chern, S R; Liu, Y P; Su, J W; Lee, M S; Wang, W

    2012-01-01

    A 1-year-and-3-month-old girl presented with psychomotor retardation, developmental delay, clinodactyly of the thumb, coarctation of the aorta, patent ductus arteriosus, peripheral pulmonary stenosis, atrial septal defect, microcephaly, brachycephaly, a small oval face, almond-shaped eyes, a down-turned mouth, a widened nasal bridge, hypertelorism, epicanthic folds, long philtrum, low-set large ears and but no craniosynostosis. Oligonucleotide-based array comparative genomic hybridization revealed a -4.79-Mb deletion of 3p26.2 --> pter encompassing CHL1 and CNTN4, and a -19.56-Mb duplication of 5q34 --> qter encompassing MSX2, NKX2-5 and NSD1. The karyotype of the girl was 46,XX,der(3)t(3;5)(p26.2;q34) pat. The present case adds distal 5q duplication to the list of chromosome aberrations associated with coarctation of the aorta. PMID:23072190

  7. A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.

    PubMed

    Chen, Chih-Ping; Lin, Shuan-Pei; Tsai, Fuu-Jen; Chern, Schu-Rern; Lee, Chen-Chi; Wang, Wayseen

    2008-01-01

    We report a male patient with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. Characteristic facial features include low-set ears, a beak-like nose, a prominent nasal bridge, a long philtrum, a narrow forehead, a long face, a pointed chin and dental position abnormalities. Array-comparative genomic hybridization (CGH) analysis demonstrated the presence of a 5.6-Mb deletion in 15q14 (chromosome 15: 3,18,33,000-3,74,77,000bp). The present case provides the evidence that 15q14 deletion outside the region encompassing the CHRNA7 gene can cause generalized epilepsy, and a locus in 15q14 is associated with speech and language disorder.

  8. Delay Discounting and Gambling

    PubMed Central

    Madden, Gregory J.; Francisco, Monica T.; Brewer, Adam T.; Stein, Jeffrey S.

    2011-01-01

    Delay discounting describes the decline in the value of a reinforcer as the delay to that reinforcer increases. A review of the available studies revealed that steep delay discounting is positively correlated with problem or pathological gambling. One hypothesis regarding this correlation derives from the discounting equation proposed by Mazur (1989). According to the equation, steeper discounting renders the difference between fixed-delayed rewards and gambling-like variable-delayed rewards larger; with the latter being more valuable. The present study was designed to test this prediction by first assessing rats’ impulsive choices across four delays to a larger-later reinforcer. A second condition quantified strength of preference for mixed- over fixed-delays, with the duration of the latter adjusted between sessions to achieve indifference. Strength of preference for the mixed-delay alternative is given by the fixed delay at indifference (lower fixed-delay values reflect stronger preferences). Percent impulsive choice was not correlated with the value of the fixed delay at indifference and, therefore, the prediction of the hyperbolic model of gambling was not supported. A follow-up assessment revealed a significant decrease in impulsive choice after the second condition. This shift in impulsive choice could underlie the failure to observe the predicted correlation between impulsive choice and degree of preference for mixed- over fixed delays. PMID:21352902

  9. 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

  10. Best practices in developmental screening and referral for young children.

    PubMed

    Myers, Lynnea

    2014-12-13

    Developmental screening is recommended by the American Academy of Pediatrics as best practice to identify children with developmental delays. Nurse practitioners play a critical role in developmental screening and referral. This article describes best practices in developmental screening and referral resources available to NPs performing developmental screening. PMID:25397740

  11. 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.

  12. ABA may promote or delay peach fruit ripening through modulation of ripening- and hormone-related gene expression depending on the developmental stage.

    PubMed

    Soto, Alvaro; Ruiz, Karina B; Ravaglia, Daniela; Costa, Guglielmo; Torrigiani, Patrizia

    2013-03-01

    Peach (Prunus persica laevis L. Batsch) was chosen as a model to further clarify the physiological role of ABA during fruit ripening. To this aim, branches bearing one fruit at mid-S3, S3/S4 and S4 stages of fruit development and characterized by a different ripening index (I(AD)), as revealed by a non-destructive device called a DA-meter, were treated with ABA (0.02 mM) for 1 and 5 days. Exogenously applied ABA interfered with the progression of ripening leading to less ripe or riper fruit depending on the physiological stage. To better understand the molecular basis of ABA interference with ripening, the time-course changes in the expression of ethylene-, cell wall-, and auxin-related genes as well as other genes (NCED, PIP, LOX, AOS and SOT) was evaluated in the fruit mesocarp. Real-time PCR analyses revealed that in mid-S3 fruit transcript levels of ethylene biosynthesis and signaling (ACS1, ACO1, ETR2, ERF2), cell wall softening-related (PG, PMEI, EXP1, EXP2) and auxin biosynthesis, conjugation, transport and perception (TRPB, IGPS, Aux/IAA, GH3, PIN1 and TIR1) genes were substantially down-regulated on day 5 indicating a ripening delay. On the contrary, in more advanced stages (S3/S4 and S4) the same genes were early (day 1) up-regulated suggesting an acceleration of ripening. Transcript profiling of other ripening-related genes revealed changes that were in accord with a ripening delay (mid-S3) or acceleration (S3/S4 and S4). Thus, in peach fruit, ABA appears to modulate ripening through interference not only with ethylene and cell wall but also with auxin-related genes.

  13. 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.

  14. 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...

  15. 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 ...

  16. 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…

  17. Quantifying contextuality.

    PubMed

    Grudka, A; Horodecki, K; Horodecki, M; Horodecki, P; Horodecki, R; Joshi, P; Kłobus, W; Wójcik, A

    2014-03-28

    Contextuality is central to both the foundations of quantum theory and to the novel information processing tasks. Despite some recent proposals, it still faces a fundamental problem: how to quantify its presence? In this work, we provide a universal framework for quantifying contextuality. We conduct two complementary approaches: (i) the bottom-up approach, where we introduce a communication game, which grasps the phenomenon of contextuality in a quantitative manner; (ii) the top-down approach, where we just postulate two measures, relative entropy of contextuality and contextuality cost, analogous to existent measures of nonlocality (a special case of contextuality). We then match the two approaches by showing that the measure emerging from the communication scenario turns out to be equal to the relative entropy of contextuality. Our framework allows for the quantitative, resource-type comparison of completely different games. We give analytical formulas for the proposed measures for some contextual systems, showing in particular that the Peres-Mermin game is by order of magnitude more contextual than that of Klyachko et al. Furthermore, we explore properties of these measures such as monotonicity or additivity. PMID:24724629

  18. 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

  19. 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

    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

    2015-04-15

    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.

  20. 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...

  1. 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, ...

  2. Developmental Education.

    ERIC Educational Resources Information Center

    Bibb, T. Clifford

    1998-01-01

    Outlines steps developmental educators need to take to win the cooperation of more students. Argues also that developmental educators must include computer literacy in their understanding of literacy. (SR)

  3. Developmental dyscalculia.

    PubMed

    Shalev, R S; Gross-Tsur, V

    2001-05-01

    Developmental dyscalculia is a specific learning disability affecting the acquisition of arithmetic skills in an otherwise-normal child. Although poor teaching, environmental deprivation, and low intelligence have been implicated in the etiology of developmental dyscalculia, current data indicate that this learning disability is a brain-based disorder with a familial-genetic predisposition. The neurologic substrate of developmental dyscalculia is thought to involve both hemispheres, particularly the left parietotemporal areas. Developmental dyscalculia is a common cognitive handicap; its prevalence in the school population is about 5-6%, a frequency similar to those of developmental dyslexia and attention-deficit-hyperactivity disorder. Unlike these, however, it is as common in females as in males. Developmental dyscalculia frequently is encountered in neurologic disorders, examples of which include attention-deficit-hyperactivity disorder, developmental language disorder, epilepsy, and fragile X syndrome. The long-term prognosis of developmental dyscalculia is unknown; it appears, however, to persist, at least for the short-term, in about half of affected preteen children. The consequences of developmental dyscalculia and its impact on education, employment, and psychologic well-being of affected individuals are unknown. PMID:11516606

  4. 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.

  5. [Delayed puberty].

    PubMed

    Antoniazzi, F; Zamboni, G; Tatò, L

    1996-01-01

    Delayed puberty can be defined as the absence of any signs of puberty in subjects that have attained an age at the upper limit (+2DS) for the onset of puberty, that means 13 years in girls and 14 years in boys. The causes of delayed puberty can be classified into three groups, functional temporary impairment in gonadotropin and sex steroid secretion (most frequently constitutional delay of puberty), hypothalamo-pituitary failure with deficiency in gonadotropin secretion, primary gonadal failure with increased gonadotropin levels. The Authors discuss about etiology, diagnostic testing and therapeutic approach in these conditions. The majority of children with delayed puberty are males that have only a constitutional delay of growth and puberty. It is difficult, in teenage years, to distinguish this common and benign condition from true gonadotropin deficiency, in spite of the variety of endocrine tests developed for this purpose. Individuals with constitutional delayed puberty with a bone age greater than 11.5 years, show after triptorelin stimulation an increase in LH capable of distinguishing them from patients with gonadotropin deficiency. In our opinion this could be an important screening test to exclude gonadotropin deficiency in boys with delayed puberty.

  6. 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

  7. Developmental Disabilities

    MedlinePlus

    ... many causes of developmental disabilities, including Genetic or chromosome abnormalities. These cause conditions such as Down syndrome and Rett syndrome. Prenatal exposure to substances. Drinking alcohol when ... also help. NIH: National Institute of Child Health and Human Development

  8. Developmental Trends.

    ERIC Educational Resources Information Center

    Howe, Frederick C.

    1993-01-01

    Explores developmental patterns in children from kindergarten through grade six. Highlights physical development, including height, activity level, motor skills, and health; mental development, including abstract thought, academic focus, learning difficulties, subject preferences, and creativity; psychosocial development, including interpersonal…

  9. 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…

  10. 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

  11. Speech and language delay in children.

    PubMed

    McLaughlin, Maura R

    2011-05-15

    Speech and language delay in children is associated with increased difficulty with reading, writing, attention, and socialization. Although physicians should be alert to parental concerns and to whether children are meeting expected developmental milestones, there currently is insufficient evidence to recommend for or against routine use of formal screening instruments in primary care to detect speech and language delay. In children not meeting the expected milestones for speech and language, a comprehensive developmental evaluation is essential, because atypical language development can be a secondary characteristic of other physical and developmental problems that may first manifest as language problems. Types of primary speech and language delay include developmental speech and language delay, expressive language disorder, and receptive language disorder. Secondary speech and language delays are attributable to another condition such as hearing loss, intellectual disability, autism spectrum disorder, physical speech problems, or selective mutism. When speech and language delay is suspected, the primary care physician should discuss this concern with the parents and recommend referral to a speech-language pathologist and an audiologist. There is good evidence that speech-language therapy is helpful, particularly for children with expressive language disorder. PMID:21568252

  12. 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

  13. 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. PMID:15559892

  14. [Developmental Assessment.

    ERIC Educational Resources Information Center

    Fenichel, Emily, Ed.

    1994-01-01

    This newsletter theme issue contains contributions by parents, practitioners, researchers, administrators, and providers of technical assistance, which explore aspects of the complex process of developmental assessment of infants and young children. They describe what is helpful and what can be harmful in current assessment practice. They offer…

  15. Developmental dyscalculia.

    PubMed

    Shalev, R S; Weirtman, R; Amir, N

    1988-12-01

    We conducted a neurobehavioral evaluation on eleven children with developmental dyscalculia in order to determine which aspects of arithmetic processes are affected in this disorder. Our results indicate that memorization of numerical facts in these children was poor or virtually non-existent and the ability to solve simple arithmetic exercises impaired. By contrast, comprehension and production of number functions were intact. Although all children had been referred for evaluation of selective deficits in arithmetic skills, they also displayed a mild degree of dyslexia, dysgraphia, anomia, and grapho-motor dysfunction. We conclude that cognitive mechanisms underlying arithmetic ability can be dissociated developmentally and suggest that remediation programs be designed only after detailed analyses of arithmetic and associated cognitive skills. PMID:2464456

  16. Improvised Musical Play with Delayed and Nondelayed Children.

    ERIC Educational Resources Information Center

    Gunsberg, Andrew

    1991-01-01

    Describes Improvised Musical Play (IMP), a teaching strategy that uses simple rhythms, chanting, and singing to make participation in social play with nondelayed peers easier for developmentally delayed children. (BB)

  17. Developmental Modes and Developmental Mechanisms can Channel Brain Evolution.

    PubMed

    Charvet, Christine J; Striedter, Georg F

    2011-01-01

    Anseriform birds (ducks and geese) as well as parrots and songbirds have evolved a disproportionately enlarged telencephalon compared with many other birds. However, parrots and songbirds differ from anseriform birds in their mode of development. Whereas ducks and geese are precocial (e.g., hatchlings feed on their own), parrots and songbirds are altricial (e.g., hatchlings are fed by their parents). We here consider how developmental modes may limit and facilitate specific changes in the mechanisms of brain development. We suggest that altriciality facilitates the evolution of telencephalic expansion by delaying telencephalic neurogenesis. We further hypothesize that delays in telencephalic neurogenesis generate delays in telencephalic maturation, which in turn foster neural adaptations that facilitate learning. Specifically, we propose that delaying telencephalic neurogenesis was a prerequisite for the evolution of neural circuits that allow parrots and songbirds to produce learned vocalizations. Overall, we argue that developmental modes have influenced how some lineages of birds increased the size of their telencephalon and that this, in turn, has influenced subsequent changes in brain circuits and behavior.

  18. Developmental Modes and Developmental Mechanisms can Channel Brain Evolution

    PubMed Central

    Charvet, Christine J.; Striedter, Georg F.

    2010-01-01

    Anseriform birds (ducks and geese) as well as parrots and songbirds have evolved a disproportionately enlarged telencephalon compared with many other birds. However, parrots and songbirds differ from anseriform birds in their mode of development. Whereas ducks and geese are precocial (e.g., hatchlings feed on their own), parrots and songbirds are altricial (e.g., hatchlings are fed by their parents). We here consider how developmental modes may limit and facilitate specific changes in the mechanisms of brain development. We suggest that altriciality facilitates the evolution of telencephalic expansion by delaying telencephalic neurogenesis. We further hypothesize that delays in telencephalic neurogenesis generate delays in telencephalic maturation, which in turn foster neural adaptations that facilitate learning. Specifically, we propose that delaying telencephalic neurogenesis was a prerequisite for the evolution of neural circuits that allow parrots and songbirds to produce learned vocalizations. Overall, we argue that developmental modes have influenced how some lineages of birds increased the size of their telencephalon and that this, in turn, has influenced subsequent changes in brain circuits and behavior. PMID:21369349

  19. Delaying obsolescence.

    PubMed

    Lawlor, Rob

    2015-04-01

    This paper argues that those who emphasise that designers and engineers need to plan for obsolescence are too conservative. Rather, in addition to planning for obsolescence, designers and engineers should also think carefully about what they could do in order delay obsolescence. They should so this by thinking about the design itself, thinking of ways in which products could be useful and appealing for longer before becoming obsolete, as well thinking about the wider context in terms of the marketing of products, and also the social and legal. The paper also considers objections that these suggestions are unrealistically idealistic, failing to recognise the economic realities. I respond to these objections appealing to research in advertising, psychology, cognitive linguistics, philosophy, history, and economics, as well as drawing on the Statement of Ethical Principles developed by the Royal Academy of Engineering and the Engineering Council. PMID:24792878

  20. Developmental Surveillance and Screening in the Electronic Health Record.

    PubMed

    Smith, Timothy Ryan

    2016-10-01

    Effective well-child care includes developmental surveillance and screening to identify developmental delays and subsequent interventions. Electronic health records (EHRs) have been widely adopted to improve efficiency and appropriate clinical practice. Developmental surveillance tools have been introduced. This article summarizes a conceptual framework for application and highlights the principles and tools of EHRs applied to developmental assessment, including interoperability, health information exchange, clinical decision support systems, consumer health informatics, dashboards, and patient portals. Further investigation and dedicated resources will be required for successful application to developmental surveillance and screening.

  1. Developmental Surveillance and Screening in the Electronic Health Record.

    PubMed

    Smith, Timothy Ryan

    2016-10-01

    Effective well-child care includes developmental surveillance and screening to identify developmental delays and subsequent interventions. Electronic health records (EHRs) have been widely adopted to improve efficiency and appropriate clinical practice. Developmental surveillance tools have been introduced. This article summarizes a conceptual framework for application and highlights the principles and tools of EHRs applied to developmental assessment, including interoperability, health information exchange, clinical decision support systems, consumer health informatics, dashboards, and patient portals. Further investigation and dedicated resources will be required for successful application to developmental surveillance and screening. PMID:27565369

  2. Injury response checkpoint and developmental timing in insects

    PubMed Central

    Hackney, Jennifer F; Cherbas, Peter

    2014-01-01

    In insects, localized tissue injury often leads to global (organism-wide) delays in development and retarded metamorphosis. In Drosophila, for example, injuries to the larval imaginal discs can retard pupariation and prolong metamorphosis. Injuries induced by treatments such as radiation, mechanical damage and induction of localized cell death can trigger similar delays. In most cases, the duration of the developmental delay appears to be correlated with the extent of damage, but the effect is also sensitive to the developmental stage of the treated animal. The proximate cause of the delays is likely a disruption of the ecdysone signaling pathway, but the intermediate steps leading from tissue injury and/or regeneration to that disruption remain unknown. Here, we review the evidence for injury-induced developmental delays, and for a checkpoint or checkpoints associated with the temporal progression of development and the on-going efforts to define the mechanisms involved. PMID:25833067

  3. 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…

  4. Tissue Damage Disrupts Developmental Progression and Ecdysteroid Biosynthesis in Drosophila

    PubMed Central

    Hackney, Jennifer F.; Zolali-Meybodi, Omid; Cherbas, Peter

    2012-01-01

    In humans, chronic inflammation, severe injury, infection and disease can result in changes in steroid hormone titers and delayed onset of puberty; however the pathway by which this occurs remains largely unknown. Similarly, in insects injury to specific tissues can result in a global developmental delay (e.g. prolonged larval/pupal stages) often associated with decreased levels of ecdysone – a steroid hormone that regulates developmental transitions in insects. We use Drosophila melanogaster as a model to examine the pathway by which tissue injury disrupts developmental progression. Imaginal disc damage inflicted early in larval development triggers developmental delays while the effects are minimized in older larvae. We find that the switch in injury response (e.g. delay/no delay) is coincident with the mid-3rd instar transition – a developmental time-point that is characterized by widespread changes in gene expression and marks the initial steps of metamorphosis. Finally, we show that developmental delays induced by tissue damage are associated with decreased expression of genes involved in ecdysteroid synthesis and signaling. PMID:23166607

  5. Hamlet's delay.

    PubMed

    Dendy, E B

    2001-01-01

    This paper raises a question about Freud's understanding of Hamlet and offers a fresh psychoanalytic perspective on the play, emphasizing the psychological use made of Hamlet by the audience. It suggests Hamlet and Claudius both serve as sacrificial objects, scapegoats, for the audience, embodying, through a mechanism of both identification and disidentification, the fulfillment, punishment, and renunciation of the audience's forbidden (i.e. Oedipal) wishes. The play is thus seen to represent unconsciously a rite of sacrifice in which both Claudius and Hamlet, both the father and the son, are led, albeit circuitously, to the slaughter. The need for delay on the part of Hamlet is thus seen to arise not merely from Hamlet's psychology, whatever the audience may project onto it, but ultimately from the function (both sadistic and defensive) that the sacrificial spectacle, the play as a whole, serves for the audience. The paper also speculates somewhat on the role of tragic heroes and heroines in general, and points to the unconscious collusion that permits author and audience to make use of them. Finally, in an addendum, the paper discusses the work of René Girard, a nonpsychoanalytic thinker whose ideas nonetheless are somewhat similar to those presented here. PMID:12102022

  6. 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…

  7. Developmental and Autism Screening: A Survey across Six States

    ERIC Educational Resources Information Center

    Arunyanart, Wirongrong; Fenick, Ada; Ukritchon, Supak; Imjaijitt, Worarachanee; Northrup, Veronika; Weitzman, Carol

    2012-01-01

    The American Academy of Pediatrics (AAP) recommends screening children for developmental delay and autism. Studies of current screening practice to date have been limited in scope and primarily focused on small, local samples. This study is designed to determine compliance with AAP screening recommendations: (1) developmental screening at 9, 18,…

  8. 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…

  9. Developmental dyslexia.

    PubMed

    Peterson, Robin L; Pennington, Bruce F

    2015-01-01

    This review uses a levels-of-analysis framework to summarize the current understanding of developmental dyslexia's etiology, brain bases, neuropsychology, and social context. Dyslexia is caused by multiple genetic and environmental risk factors as well as their interplay. Several candidate genes have been identified in the past decade. At the brain level, dyslexia is associated with aberrant structure and function, particularly in left hemisphere reading/language networks. The neurocognitive influences on dyslexia are also multifactorial and involve phonological processing deficits as well as weaknesses in other oral language skills and processing speed. We address contextual issues such as how dyslexia manifests across languages and social classes as well as what treatments are best supported. Throughout the review, we highlight exciting new research that cuts across levels of analysis. Such work promises eventually to provide a comprehensive explanation of the disorder as well as its prevention and remediation.

  10. Developmental dyslexia.

    PubMed

    Peterson, Robin L; Pennington, Bruce F

    2015-01-01

    This review uses a levels-of-analysis framework to summarize the current understanding of developmental dyslexia's etiology, brain bases, neuropsychology, and social context. Dyslexia is caused by multiple genetic and environmental risk factors as well as their interplay. Several candidate genes have been identified in the past decade. At the brain level, dyslexia is associated with aberrant structure and function, particularly in left hemisphere reading/language networks. The neurocognitive influences on dyslexia are also multifactorial and involve phonological processing deficits as well as weaknesses in other oral language skills and processing speed. We address contextual issues such as how dyslexia manifests across languages and social classes as well as what treatments are best supported. Throughout the review, we highlight exciting new research that cuts across levels of analysis. Such work promises eventually to provide a comprehensive explanation of the disorder as well as its prevention and remediation. PMID:25594880

  11. 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…

  12. 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…

  13. Wireless quantified reflex device

    NASA Astrophysics Data System (ADS)

    Lemoyne, Robert Charles

    The deep tendon reflex is a fundamental aspect of a neurological examination. The two major parameters of the tendon reflex are response and latency, which are presently evaluated qualitatively during a neurological examination. The reflex loop is capable of providing insight for the status and therapy response of both upper and lower motor neuron syndromes. Attempts have been made to ascertain reflex response and latency, however these systems are relatively complex, resource intensive, with issues of consistent and reliable accuracy. The solution presented is a wireless quantified reflex device using tandem three dimensional wireless accelerometers to obtain response based on acceleration waveform amplitude and latency derived from temporal acceleration waveform disparity. Three specific aims have been established for the proposed wireless quantified reflex device: 1. Demonstrate the wireless quantified reflex device is reliably capable of ascertaining quantified reflex response and latency using a quantified input. 2. Evaluate the precision of the device using an artificial reflex system. 3.Conduct a longitudinal study respective of subjects with healthy patellar tendon reflexes, using the wireless quantified reflex evaluation device to obtain quantified reflex response and latency. Aim 1 has led to the steady evolution of the wireless quantified reflex device from a singular two dimensional wireless accelerometer capable of measuring reflex response to a tandem three dimensional wireless accelerometer capable of reliably measuring reflex response and latency. The hypothesis for aim 1 is that a reflex quantification device can be established for reliably measuring reflex response and latency for the patellar tendon reflex, comprised of an integrated system of wireless three dimensional MEMS accelerometers. Aim 2 further emphasized the reliability of the wireless quantified reflex device by evaluating an artificial reflex system. The hypothesis for aim 2 is that

  14. 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…

  15. Developmental behavior.

    PubMed

    Crowell-Davis, S L

    1986-12-01

    Examination of the developmental changes that occur in the behavior of foals reveals three major periods that can be characterized by certain types of behavior. Although the beginnings and endings of these periods are not definitive, these periods may be conceptually useful in evaluating a foal's behavior. Period of Dependence. During the first 4 weeks of life, a foal is maximally dependent on its mother for sustenance, remains near her, and has little contact with other horses or ponies of any age. Period of Socialization. During the second and third months of life, foals have rapidly increasing contact with ponies and horses other than their mother, especially with other foals. Mutual-grooming peaks during this period, as does snapping, which is probably being carried out as a displacement activity during the stressful period of initial contact with non-mother horses. Period of Stabilization and Developing Independence. From the fourth month onward, foals gradually become more independent, both from their mother and from other herd members as they progress toward adult patterns of spatial relationships, social interactions, and maintenance behaviors. PMID:3492246

  16. 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.

  17. 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…

  18. Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

    PubMed

    Frühmesser, Anne; Erdel, Martin; Duba, Hans-Christoph; Fauth, Christine; Amberger, Albert; Utermann, Gerd; Zschocke, Johannes; Kotzot, Dieter

    2013-07-01

    De novo combined duplications/inversions are very rare chromosomal rearrangements. For chromosome 7 just some dozen cases of duplications of various parts of the long arm have been published. We report on a 12-year-old boy with muscular hypotonia, global developmental delay, short stature, and various facial dysmorphism including frontal bossing, temporal narrowing, slightly down-slanting palpebral fissures, a broad nasal root, a long philtrum, a thin and tented upper lip, a drooping lower lip, micrognathia, prominent ears, a short neck, and a low posterior hairline. Karyotype analysis and molecular investigations revealed a complex de novo chromosomal rearrangement on 7q. FISH analysis with locus specific YACs and BACs and SNP array with the Illumina(®) HumanOmni1-Quad v1.0 BeadChip disclosed a direct duplication in the long arm of chromosome 7 (q22.1→q32.2) and an inversion located at the breakpoint between the two copies of the duplication (q31.31→q31.33). In addition, breakpoint characterization at the molecular level revealed a 386 bp insertion carrying two Alu elements of chromosome 19p13.2 between the two copies of the duplication. By a comparison of the SNP haplotypes of the derivative chromosome of the patient and both parents a two-step formation during spermatogenesis was suggested as the most likely mechanism of formation. PMID:23608969

  19. 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

  20. 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

  1. Developmental Risk and Young Children’s Regulatory Strategies: Predicting Behavior Problems at Age Five

    PubMed Central

    Gerstein, Emily D.; Arbona, Anita Pedersen y; Crnic, Keith A.; Ryu, Ehri; Baker, Bruce L.; Blacher, Jan

    2013-01-01

    Children with early developmental delays are at heightened risk for behavior problems and comorbid psychopathology. This study examined the trajectories of regulatory capabilities and their potentially mediating role in the development of behavior problems for children with and without early developmental delays. A sample of 231 children comprised of 137 typically developing children and 94 children with developmental delays were examined during mildly frustrating laboratory tasks across the preschool period (ages 3–5). Results indicated that children with delays had greater use of maladaptive strategies (distraction, distress venting) and lower use of adaptive strategies (constructive coping) than typically developing children. For both groups, strategies had similar rates of growth across time; maladaptive strategies decreased and adaptive strategies increased. The intercept of strategy use, but not the slope, was found to mediate the relation between developmental risk and externalizing behaviors. Findings support that dysregulation, rather than the developmental risk, may be responsible for the high levels of comorbid psychopathology. PMID:21107675

  2. 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…

  3. Quantifying light pollution

    NASA Astrophysics Data System (ADS)

    Cinzano, P.; Falchi, F.

    2014-05-01

    In this paper we review new available indicators useful to quantify and monitor light pollution, defined as the alteration of the natural quantity of light in the night environment due to introduction of manmade light. With the introduction of recent radiative transfer methods for the computation of light pollution propagation, several new indicators become available. These indicators represent a primary step in light pollution quantification, beyond the bare evaluation of the night sky brightness, which is an observational effect integrated along the line of sight and thus lacking the three-dimensional information.

  4. Intellectual and Developmental Disabilities

    MedlinePlus

    ... Clinical Trials Resources and Publications Intellectual and Developmental Disabilities (IDDs): Overview Skip sharing on social media links Share this: Page Content Intellectual and developmental disabilities (IDDs) are a primary focus of the NICHD’s ...

  5. Ivey's Developmental Therapy.

    ERIC Educational Resources Information Center

    Daniels, Thomas G.

    1993-01-01

    Ivey's Developmental Counseling and Therapy (DCT) is an innovative and comprehensive approach to helping which views client functioning in terms of cognitive-developmental functioning. DCT approximates a metamodel of helping in which treatment strategies are logically derived from and integrated with the cognitive-developmental level of the…

  6. Developmental Academic Advising.

    ERIC Educational Resources Information Center

    Raushi, Thaddeus M.

    1993-01-01

    Describes developmental academic advising as a comprehensive, collaborative, and empowering process designed to maximize students' educational potential. Reviews basic developmental theories (i.e., psychosocial, cognitive-developmental, and person-environmental), and focussed theories dealing with adult learners, women, people of color, and gays…

  7. 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)

  8. Mathematical problems in children with developmental coordination disorder.

    PubMed

    Pieters, Stefanie; Desoete, Annemie; Van Waelvelde, Hilde; Vanderswalmen, Ruth; Roeyers, Herbert

    2012-01-01

    Developmental coordination disorder (DCD) is a heterogeneous disorder, which is often co-morbid with learning disabilities. However, mathematical problems have rarely been studied in DCD. The aim of this study was to investigate the mathematical problems in children with various degrees of motor problems. Specifically, this study explored if the development of mathematical skills in children with DCD is delayed or deficient. Children with DCD performed significantly worse for number fact retrieval and procedural calculation in comparison with age-matched control children. Moreover, children with mild DCD differed significantly from children with severe DCD on both number fact retrieval and procedural calculation. In addition, we found a developmental delay of 1 year for number fact retrieval in children with mild DCD and a developmental delay of 2 years in children with severe DCD. No evidence for a mathematical deficit was found. Diagnostic implications are discussed. PMID:22502838

  9. Speech and Language Delay

    MedlinePlus

    MENU Return to Web version Speech and Language Delay Overview How do I know if my child has speech delay? Every child develops at his or her ... of the same age, the problem may be speech delay. Your doctor may think your child has ...

  10. 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…

  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. 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. PMID:27002960

  13. Transient hypothyroxinaemia associated with developmental delay in very preterm infants.

    PubMed Central

    Meijer, W J; Verloove-Vanhorick, S P; Brand, R; van den Brande, J L

    1992-01-01

    In 563 surviving very preterm (less than 32 weeks gestational age) and/or very low birthweight (less than 1500 g) infants the relationship between neonatal thyroxine concentration and psychomotor development at 2 years of age (corrected for preterm birth) was studied. A significant association was found between low neonatal thyroxine concentration and a negative score on the three milestones of development. These findings do not support the view that transient hypothyroxinaemia in preterm infants is harmless. PMID:1381573

  14. 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…

  15. 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…

  16. Teaching Preschool Children with Autism and Developmental Delays to Write

    ERIC Educational Resources Information Center

    Carlson, Brittany; McLaughlin, T. F.; Derby, K. Mark; Blecher, Jessiana

    2009-01-01

    Introduction: "Handwriting Without Tears"[R] program (Olsen, 1998) has been suggested as an appropriate set of procedures to teach students with and without disabilities skills in written communication. Unfortunately, there has been little research in the peer reviewed literature where the program has been employed to teach children with autism…

  17. Dysgraphia in Children: Lasting Psychomotor Deficiency or Transient Developmental Delay?

    ERIC Educational Resources Information Center

    Smits-Engelsman, Bouwien C. M.; Van Galen, Gerard P.

    1997-01-01

    Used writing tasks recorded on a computer-monitored XY tablet to differentiate between normal variations in psychomotor development and dysgraphia in 16 young children. Found that control of spatial accuracy, not allograph retrieval or size control, discriminated dysgraphic children from others. Poor writers were less accurate than proficient…

  18. 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.

  19. A closed NPZ model with delayed nutrient recycling.

    PubMed

    Kloosterman, Matt; Campbell, Sue Ann; Poulin, Francis J

    2014-03-01

    We consider a closed Nutrient-Phytoplankton-Zooplankton (NPZ) model that allows for a delay in the nutrient recycling. A delay-dependent conservation law allows us to quantify the total biomass in the system. With this, we can investigate how a planktonic ecosystem is affected by the quantity of biomass it contains and by the properties of the delay distribution. The quantity of biomass and the length of the delay play a significant role in determining the existence of equilibrium solutions, since a sufficiently small amount of biomass or a long enough delay can lead to the extinction of a species. Furthermore, the quantity of biomass and length of delay are important since a small change in either can change the stability of an equilibrium solution. We explore these effects for a variety of delay distributions using both analytical and numerical techniques, and verify these results with simulations.

  20. Concurrent schedules: Quantifying the aversiveness of noise

    PubMed Central

    McAdie, Tina M.; Foster, T. Mary; Temple, William

    1996-01-01

    Four hens worked under independent multiple concurrent variable-interval schedules with an overlaid aversive stimulus (sound of hens in a poultry shed at 100dBA) activated by the first peck on a key. The sound remained on until a response was made on the other key. The key that activated the sound in each component was varied over a series of conditions. When the sound was activated by the left (or right) key in one component, it was activated by the right (or left) key in the other component. Bias was examined under a range of different variable-interval schedules, and the applicability of the generalized matching law was examined. It was found that the hens' behavior was biased away from the sound independently of the schedule in effect and that this bias could be quantified using a modified version of the generalized matching law. Behavior during the changeover delays was not affected by the presence of the noise or by changes in reinforcement rate, even though the total response measures were. Insensitivity shown during the delay suggests that behavior after the changeover delay may be more appropriate as a measure of preference (or aversiveness) of stimuli than are overall behavior measures. PMID:16812802

  1. 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.…

  2. 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. PMID:26716453

  3. Uncertainty quantified trait predictions

    NASA Astrophysics Data System (ADS)

    Fazayeli, Farideh; Kattge, Jens; Banerjee, Arindam; Schrodt, Franziska; Reich, Peter

    2015-04-01

    Functional traits of organisms are key to understanding and predicting biodiversity and ecological change, which motivates continuous collection of traits and their integration into global databases. Such composite trait matrices are inherently sparse, severely limiting their usefulness for further analyses. On the other hand, traits are characterized by the phylogenetic trait signal, trait-trait correlations and environmental constraints, all of which provide information that could be used to statistically fill gaps. We propose the application of probabilistic models which, for the first time, utilize all three characteristics to fill gaps in trait databases and predict trait values at larger spatial scales. For this purpose we introduce BHPMF, a hierarchical Bayesian extension of Probabilistic Matrix Factorization (PMF). PMF is a machine learning technique which exploits the correlation structure of sparse matrices to impute missing entries. BHPMF additionally utilizes the taxonomic hierarchy for trait prediction. Implemented in the context of a Gibbs Sampler MCMC approach BHPMF provides uncertainty estimates for each trait prediction. We present comprehensive experimental results on the problem of plant trait prediction using the largest database of plant traits, where BHPMF shows strong empirical performance in uncertainty quantified trait prediction, outperforming the state-of-the-art based on point estimates. Further, we show that BHPMF is more accurate when it is confident, whereas the error is high when the uncertainty is high.

  4. 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.

  5. Quantifying solvated electrons' delocalization.

    PubMed

    Janesko, Benjamin G; Scalmani, Giovanni; Frisch, Michael J

    2015-07-28

    Delocalized, solvated electrons are a topic of much recent interest. We apply the electron delocalization range EDR(r;u) (J. Chem. Phys., 2014, 141, 144104) to quantify the extent to which a solvated electron at point r in a calculated wavefunction delocalizes over distance u. Calculations on electrons in one-dimensional model cavities illustrate fundamental properties of the EDR. Mean-field calculations on hydrated electrons (H2O)n(-) show that the density-matrix-based EDR reproduces existing molecular-orbital-based measures of delocalization. Correlated calculations on hydrated electrons and electrons in lithium-ammonia clusters illustrates how electron correlation tends to move surface- and cavity-bound electrons onto the cluster or cavity surface. Applications to multiple solvated electrons in lithium-ammonia clusters provide a novel perspective on the interplay of delocalization and strong correlation central to lithium-ammonia solutions' concentration-dependent insulator-to-metal transition. The results motivate continued application of the EDR to simulations of delocalized electrons.

  6. Quantifying the Adaptive Cycle

    PubMed Central

    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. PMID:26716453

  7. Secreted peptide Dilp8 coordinates Drosophila tissue growth with developmental timing.

    PubMed

    Colombani, Julien; Andersen, Ditte S; Léopold, Pierre

    2012-05-01

    Little is known about how organ growth is monitored and coordinated with the developmental timing in complex organisms. In insects, impairment of larval tissue growth delays growth and morphogenesis, revealing a coupling mechanism. We carried out a genetic screen in Drosophila to identify molecules expressed by growing tissues participating in this coupling and identified dilp8 as a gene whose silencing rescues the developmental delay induced by abnormally growing tissues. dilp8 is highly induced in conditions where growth impairment produces a developmental delay. dilp8 encodes a peptide for which expression and secretion are sufficient to delay metamorphosis without affecting tissue integrity. We propose that Dilp8 peptide is a secreted signal that coordinates the growth status of tissues with developmental timing.

  8. 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.

  9. 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.

  10. Using Signs to Facilitate Vocabulary in Children with Language Delays

    ERIC Educational Resources Information Center

    Lederer, Susan Hendler; Battaglia, Dana

    2015-01-01

    The purpose of this article is to explore recommended practices in choosing and using key word signs (i.e., simple single-word gestures for communication) to facilitate first spoken words in hearing children with language delays. Developmental, theoretical, and empirical supports for this practice are discussed. Practical recommendations for…

  11. Number development and developmental dyscalculia.

    PubMed

    von Aster, Michael G; Shalev, Ruth S

    2007-11-01

    There is a growing consensus that the neuropsychological underpinnings of developmental dyscalculia (DD) are a genetically determined disorder of 'number sense', a term denoting the ability to represent and manipulate numerical magnitude nonverbally on an internal number line. However, this spatially-oriented number line develops during elementary school and requires additional cognitive components including working memory and number symbolization (language). Thus, there may be children with familial-genetic DD with deficits limited to number sense and others with DD and comorbidities such as language delay, dyslexia, or attention-deficit-hyperactivity disorder. This duality is supported by epidemiological data indicating that two-thirds of children with DD have comorbid conditions while one-third have pure DD. Clinically, they differ according to their profile of arithmetic difficulties. fMRI studies indicate that parietal areas (important for number functions), and frontal regions (dominant for executive working memory and attention functions), are under-activated in children with DD. A four-step developmental model that allows prediction of different pathways for DD is presented. The core-system representation of numerical magnitude (cardinality; step 1) provides the meaning of 'number', a precondition to acquiring linguistic (step 2), and Arabic (step 3) number symbols, while a growing working memory enables neuroplastic development of an expanding mental number line during school years (step 4). Therapeutic and educational interventions can be drawn from this model. PMID:17979867

  12. 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

  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. The developmental sequence of social-communicative skills in young children with autism: a longitudinal study.

    PubMed

    Wu, Chin-Chin; Chiang, Chung-Hsin

    2014-05-01

    To explore the different developmental trajectories of social-communicative skills in children with autism and typically developing infants, two longitudinal studies were conducted. In Study 1, we examined the developmental sequence of social-communicative skills in 26 typically developing infants when they were 9 months old and reexamined them when they were 12 and 15 months old. The results indicated a reliable developmental sequence of social-communicative skills in infants with typical development. In Study 2, we explored the emergence sequence of social-communicative skills of 23 children with autism and 23 children with developmental delay between the ages of 2 and 4 years. The results demonstrated that the developmental sequence of social-communicative skills in young children with autism and children with developmental delays was different.

  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. 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. PMID:25431576

  18. 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…

  19. Speech Perception and Short-Term Memory Deficits in Persistent Developmental Speech Disorder

    ERIC Educational Resources Information Center

    Kenney, Mary Kay; Barac-Cikoja, Dragana; Finnegan, Kimberly; Jeffries, Neal; Ludlow, Christy L.

    2006-01-01

    Children with developmental speech disorders may have additional deficits in speech perception and/or short-term memory. To determine whether these are only transient developmental delays that can accompany the disorder in childhood or persist as part of the speech disorder, adults with a persistent familial speech disorder were tested on speech…

  20. Examining antecedents of caregivers' access to early childhood developmental screening: implications for campaigns promoting use of services in Appalachian Ohio.

    PubMed

    Bates, Benjamin R; Graham, Dawn; Striley, Katie; Patterson, Spencer; Arora, Aarti; Hamel-Lambert, Jane

    2014-05-01

    Although developmental delays are common in the United States, only about one third of developmental delays are identified before a child enters school. As challenging as use of developmental screening is on a national basis, the Appalachian region faces extreme lack of screening, diagnosis, and treatment for developmental delay. Local health care providers attribute this lack to poor parent understanding and have called for communication interventions to educate caregivers. This investigation sought to understand the antecedents of Appalachian caregivers' intentions to access developmental screening and services for their children as formative research for a communication-based intervention. The investigation was grounded by the health belief model. Surveys completed by 366 caregivers were used to model antecedents to behavioral intention. Perceived severity, perceived benefits, and self-efficacy were found to be the strongest predictors of intention to access developmental screening. Implications for a communication-based intervention are provided.

  1. Using Time-Delay to Improve Social Play Skills with Peers for Children with Autism

    ERIC Educational Resources Information Center

    Liber, Daniella B.; Frea, William D.; Symon, Jennifer B. G.

    2008-01-01

    Interventions that teach social communication and play skills are crucial for the development of children with autism. The time delay procedure is effective in teaching language acquisition, social use of language, discrete behaviors, and chained activities to individuals with autism and developmental delays. In this study, three boys with autism,…

  2. 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…

  3. 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.

  4. 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

  5. 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…

  6. 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…

  7. 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.…

  8. 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…

  9. Developmental Status and Intimacy in Adult Survivors of Childhood Cancer.

    ERIC Educational Resources Information Center

    Zevon, Michael A.; Corn, Barbara; Lowrie, Geoffrey; Green, Daniel M.

    Whereas aggressive multimodal therapies are responsible for improved survival rates of children and adolescents diagnosed with cancer, concern has grown regarding the potential for adverse and delayed developmental effects resulting from these treatments. In light of this concern, this study assessed 207 adult survivors of childhood cancer in…

  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. A plea for developmental motor screening in Canadian infants.

    PubMed

    Harris, Susan R

    2016-04-01

    Motor delays during infancy may be the first observable sign of a specific neurodevelopmental disability or of more global developmental delays. The earlier such disorders are identified, the sooner these infants can be referred for early intervention services. Although developmental motor screening is strongly recommended in other Western countries, Canada has yet to provide a developmental surveillance and screening program. Ideally, screening for motor disabilities should occur as part of the 12-month well-baby visit. In advance of that visit, parents can be provided with a parent-screening questionnaire that they can complete and bring with them to their 12-month office visit. Interpretation of the parent-completed questionnaire takes only 2 min to 3 min of the health care professional's time and, based on the results, can either reassure parents that their infant is developing typically, or lead to a referral for standardized motor screening or assessment by a paediatric physical or occupational therapist. PMID:27396842

  12. Transcript length mediates developmental timing of gene expression across Drosophila.

    PubMed

    Artieri, Carlo G; Fraser, Hunter B

    2014-11-01

    The time required to transcribe genes with long primary transcripts may limit their ability to be expressed in cells with short mitotic cycles, a phenomenon termed intron delay. As such short cycles are a hallmark of the earliest stages of insect development, we tested the impact of intron delay on the Drosophila developmental transcriptome. We find that long zygotically expressed genes show substantial delay in expression relative to their shorter counterparts, which is not observed for maternally deposited transcripts. Patterns of RNA-seq coverage along transcripts show that this delay is consistent with their inability to completely transcribe long transcripts, but not with transcriptional initiation-based regulatory control. We further show that highly expressed zygotic genes maintain compact transcribed regions across the Drosophila phylogeny, allowing conservation of embryonic expression patterns. We propose that the physical constraints of intron delay affect patterns of expression and the evolution of gene structure of a substantial portion of the Drosophila transcriptome.

  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. 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

  15. 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

  16. 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. PMID:25912729

  17. 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.

  18. Swept group delay measurement

    NASA Technical Reports Server (NTRS)

    Trowbridge, D. L. (Inventor)

    1978-01-01

    Direct recording of group delay measurements on a system under temperature and stress tests employs modulated carrier frequency sweep over an S or X band. Reference path and test paths to separate detectors utilize a power divider e.g., a directional coupler or a hybrid T junction. An initially balanced phase comparator is swept in frequency by modulated carrier over the band of interest for different conditions of temperature and/or mechanical stress to obtain characteristic group delay curves.

  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. 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

  1. 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 PMID:27110928

  2. Pervasive Developmental Disorders

    MedlinePlus

    ... surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social ... TTY) Fax: 301-984-1473 MAAP Services for Autism, Asperger Syndrome, and PDD P.O. Box 524 ...

  3. Developmental coordination disorder

    MedlinePlus

    Physical causes and other types of learning disabilities must be ruled out before the diagnosis can be confirmed. ... Developmental coordination disorder can lead to: Learning problems ... wanting to participate in physical activities (such as sports)

  4. Facts about Developmental Disabilities

    MedlinePlus

    ... Children with kernicterus are more likely to have cerebral palsy, hearing and vision problems, and problems with their ... developmental disabilities, such as: ADHD , autism spectrum disorder , cerebral palsy , hearing loss , intellectual disability , learning disability, vision impairment , ...

  5. Developmental milestones record

    MedlinePlus

    ... foot Rides tricycle well Starts school Understands size concepts Understands time concepts School-age child -- 6 to 12 years Begins ... and recognition is of vital importance Understands abstract concepts ... topics include: Developmental milestones record - 2 months ...

  6. Delayed voice communication

    NASA Astrophysics Data System (ADS)

    Love, Stanley G.; Reagan, Marcum L.

    2013-10-01

    We present results from simulated deep-space exploration missions that investigated voice communication with significant time delays. The simulations identified many challenges: confusion of sequence, blocked calls, wasted crew time, impaired ability to provide relevant information to the other party, losing track of which messages have reached the other party, weakened rapport between crew and ground, slow response to rapidly changing situations, and reduced situational awareness. These challenges were met in part with additional training; greater attention and foresight; longer, less frequent transmissions; meticulous recordkeeping and timekeeping; and specific alerting and acknowledging calls. Several simulations used both delayed voice and text messaging. Text messaging provided a valuable record of transmissions and allowed messages to be targeted to subsets of the flight and ground crew, but it was a poor choice for high-workload operators such as vehicle drivers and spacewalkers. Even with the foregoing countermeasures, delayed voice communication is difficult. Additional aids such as automatic delay timers and voice-to-text transcription would help. Tests comparing delays of 50 and 300 s unexpectedly revealed that communicating with the shorter delay was just as challenging as with the longer one.

  7. Developmental cholinotoxicants: nicotine and chlorpyrifos.

    PubMed

    Slotkin, T A

    1999-02-01

    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

  8. 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

  9. 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.

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

    PubMed

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

    2016-05-13

    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. PMID:27044991

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

    PubMed

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

    2016-05-13

    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.

  12. 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.

  13. Delayed stochastic control

    NASA Astrophysics Data System (ADS)

    Hosaka, Tadaaki; Ohira, Toru; Lucian, Christian; Milton, John

    2005-03-01

    Time-delayed feedback control becomes problematic in situations in which the time constant of the system is fast compared to the feedback reaction time. In particular, when perturbations are unpredictable, traditional feedback or feed-forward control schemes can be insufficient. Nonethless a human can balance a stick at their fingertip in the presence of fluctuations that occur on time scales shorter than their neural reaction times. Here we study a simple model of a repulsive delayed random walk and demonstrate that the interplay between noise and delay can transiently stabilize an unstable fixed-point. This observation leads to the concept of ``delayed stochastic control,'' i.e. stabilization of tasks, such as stick balancing at the fingertip, by optimally tuning the noise level with respect to the feedback delay time. References:(1)J.L.Cabrera and J.G.Milton, PRL 89 158702 (2002);(2) T. Ohira and J.G.Milton, PRE 52 3277 (1995);(3)T.Hosaka, T.Ohira, C.Lucian, J.L.Cabrera, and J.G.Milton, Prog. Theor. Phys. (to appear).

  14. Quantifying errors without random sampling

    PubMed Central

    Phillips, Carl V; LaPole, Luwanna M

    2003-01-01

    Background All quantifications of mortality, morbidity, and other health measures involve numerous sources of error. The routine quantification of random sampling error makes it easy to forget that other sources of error can and should be quantified. When a quantification does not involve sampling, error is almost never quantified and results are often reported in ways that dramatically overstate their precision. Discussion We argue that the precision implicit in typical reporting is problematic and sketch methods for quantifying the various sources of error, building up from simple examples that can be solved analytically to more complex cases. There are straightforward ways to partially quantify the uncertainty surrounding a parameter that is not characterized by random sampling, such as limiting reported significant figures. We present simple methods for doing such quantifications, and for incorporating them into calculations. More complicated methods become necessary when multiple sources of uncertainty must be combined. We demonstrate that Monte Carlo simulation, using available software, can estimate the uncertainty resulting from complicated calculations with many sources of uncertainty. We apply the method to the current estimate of the annual incidence of foodborne illness in the United States. Summary Quantifying uncertainty from systematic errors is practical. Reporting this uncertainty would more honestly represent study results, help show the probability that estimated values fall within some critical range, and facilitate better targeting of further research. PMID:12892568

  15. 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. PMID:17174709

  16. 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.

  17. 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.

  18. Relation between Time Perspective and Delay Discounting: A Literature Review

    ERIC Educational Resources Information Center

    Teuscher, Ursina; Mitchell, Suzanne H.

    2011-01-01

    In this article, we examine the relation between delay discounting and future time perspective by reviewing how these concepts have been measured and quantified in order to assess their conceptual similarities. The extent to which the different measures are empirically related is reviewed by describing studies that have assessed both constructs…

  19. 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

  20. 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. PMID:27449401

  1. 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…

  2. 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…

  3. Gesture Production in School vs. Clinical Samples of Children with Developmental Coordination Disorder (DCD) and Typically Developing Children

    ERIC Educational Resources Information Center

    Sinani, Charikleia; Sugden, David A.; Hill, Elisabeth L.

    2011-01-01

    Dyspraxia, a difficulty in executing an operationalised act, has been associated with Developmental Coordination Disorder (DCD). However, issues relating to the area such as comparisons across modalities, comparisons of school vs. clinical populations, and developmental delay vs. pathology have not been addressed in the same, comprehensive study.…

  4. 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...

  5. 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…

  6. Stability and Change of Cognitive Attributes in Children with Uneven/Delayed Cognitive Development from Preschool through Childhood

    ERIC Educational Resources Information Center

    Yang, Pinchen; Lung, For-Wey; Jong, Yuh-Jyh; Hsu, Hsiu-Yi; Chen, Cheng-Chung

    2010-01-01

    As part of an ongoing clinical service program for children with developmental delay in an Asian developing country, we analyzed the cognitive attributes of 362 Taiwanese children (average age 48.5 plus or minus 12.9 month-old) with uneven/delayed cognitive development as they were assessed repeatedly with average duration of 39.7 plus or…

  7. 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…

  8. 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)…

  9. READING DEVELOPMENTAL SKILLS.

    ERIC Educational Resources Information Center

    PURDY, ROBERT J.; AND OTHERS

    DEVELOPMENTAL SKILLS IMPORTANT TO READING READINESS ARE PRESENTED WITH SUGGESTIONS TO HELP TEACHERS OFFER EXPERIENCES FOR EACH CHILD ON THE BASIS OF HIS LEVEL OF SUCCESSFUL PERFORMANCE. SUGGESTIONS FOR TEACHER OBSERVATION AND EVALUATION OF THE CHILD'S LEVEL OF VISUAL, MOTOR, SPEECH, AND LANGUAGE SKILLS AND PLANS AND SUGGESTIONS FOR DEVELOPMENTAL…

  10. 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…

  11. Developmental Concept of Idiocy

    ERIC Educational Resources Information Center

    Simpson, Murray

    2007-01-01

    In dominant definitions of mental retardation, researchers have insisted on the diagnosis being restricted to conditions manifested during the developmental period. However, even in the 19th century, this was only one of several conceptual options, some of which did not exclude adult brain injury or dementia. Events in the 19th and early 20th…

  12. 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…

  13. Arguments from Developmental Order.

    PubMed

    Stöckle-Schobel, Richard

    2016-01-01

    In this article, 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.'

  14. 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

  15. Developmental Career Counseling.

    ERIC Educational Resources Information Center

    O'Brien, Michael T.

    This paper outlines a developmental self psychology for use by career counselors with career clients. It offers a definition of a psychological self, draws from the work of Mead, Vygotsky, and Kohut to develop an understanding of the processes involved in the development and internalization of a psychological self, and connects the work of career…

  16. 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…

  17. 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)

  18. 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

  19. A developmental perspective on neuroeconomic mechanisms of contingency management.

    PubMed

    Stanger, Catherine; Budney, Alan J; Bickel, Warren K

    2013-06-01

    This paper provides a developmental overview of relevant theory and research on delay discounting and neuroeconomics, and their implications for contingency management (CM) approaches to treatment. Recent advances in the neuroscience of decision making have the potential to inform treatment development for adolescent substance use in general, and CM treatments in particular. CM interventions may be informed by research on delay discounting, a type of decision making that reflects how individuals value immediate versus delayed rewards. Delay discounting reliably distinguishes substance abusers from nonabusers and is a significant predictor of individual differences in response to substance use treatments. Discounting may also be important in predicting response to CM, as CM attempts to directly influence this decision-making process, shifting the preference from the immediate rewards of use to delayed rewards for choosing not to use. Multiple neural processes underlie decision making, and those processes have implications for adolescent substance abuse. There are significant neurodevelopmental processes that differentiate adolescents from adults. These processes are implicated in delay discounting, suggesting that adolescence may reflect a period of plasticity in temporal decision making. Understanding the neural mechanisms of delay discounting has led to promising working memory interventions directly targeting the executive functions that underlie individual choices. These interventions may be particularly helpful in combination with CM interventions that offer immediate rewards for brief periods of abstinence, and may show particular benefit in adolescence due to the heightened neural plasticity of systems that underlie temporal discounting in adolescence.

  20. A developmental perspective on neuroeconomic mechanisms of contingency management.

    PubMed

    Stanger, Catherine; Budney, Alan J; Bickel, Warren K

    2013-06-01

    This paper provides a developmental overview of relevant theory and research on delay discounting and neuroeconomics, and their implications for contingency management (CM) approaches to treatment. Recent advances in the neuroscience of decision making have the potential to inform treatment development for adolescent substance use in general, and CM treatments in particular. CM interventions may be informed by research on delay discounting, a type of decision making that reflects how individuals value immediate versus delayed rewards. Delay discounting reliably distinguishes substance abusers from nonabusers and is a significant predictor of individual differences in response to substance use treatments. Discounting may also be important in predicting response to CM, as CM attempts to directly influence this decision-making process, shifting the preference from the immediate rewards of use to delayed rewards for choosing not to use. Multiple neural processes underlie decision making, and those processes have implications for adolescent substance abuse. There are significant neurodevelopmental processes that differentiate adolescents from adults. These processes are implicated in delay discounting, suggesting that adolescence may reflect a period of plasticity in temporal decision making. Understanding the neural mechanisms of delay discounting has led to promising working memory interventions directly targeting the executive functions that underlie individual choices. These interventions may be particularly helpful in combination with CM interventions that offer immediate rewards for brief periods of abstinence, and may show particular benefit in adolescence due to the heightened neural plasticity of systems that underlie temporal discounting in adolescence. PMID:22663343

  1. [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.

  2. Delayed coking process

    SciTech Connect

    Dabkowski, M.J.; Malladi, M.

    1987-04-28

    This patent describes a delayed cooking process in which a heavy oil coker feedstock is heated to an elevated coking temperature in a furnace and the heated feedstock is subsequently subjected to delayed coking in a coker drum under superatmospheric pressure and the vaporous coking products are removed from the drum and passed to a coker fractionator from which a bottoms fraction is removed. The improvement comprises coking a feed without the addition of the bottoms fraction from the fractionator and adding to the feed to the coker drum a lower boiling hydrocarbon diluent having an end boiling point of not more than 450/sup 0/C, the lower boiling hydrocarbon diluent being added to the heated feedstock after the feedstock has passed through the furnace.

  3. Delayed skin grafting.

    PubMed

    Ceilley, R I; Bumsted, R M; Panje, W R

    1983-04-01

    The use of skin grafts on granulating wounds is an established practice. Delaying the application of a full- or split-thickness skin graft may be an advantageous alternative method of surgical reconstruction in selected cases. Partial healing by secondary intention is useful for filling in deeper defects and usually produces a wound that is much smaller and of more normal contour than the original defect. Contraction of the graft bed is markedly influenced by location, tissue laxity, surface tension lines, motion, and wound geometry. Proper wound care, correct surgical preparation of the defect, and timing of the graft procedure are all important considerations in maximizing the overall result. Through-and-through defects and wounds produced over areas with little underlying support (eyelids and lip) often need flap reconstruction or immediate grafting to prevent undesirable functional and cosmetic results. By combining delayed healing and conventional reconstructive techniques, major tissue loss can often be restored while minimizing patient morbidity.

  4. Developmental Reinforcement and Special Education.

    ERIC Educational Resources Information Center

    Garris, Raymond P.

    The author uses a developmental model (1) to describe the developmental reinforcement process as it occurs in a child's life, using a hierarchical concept, and (2) to discuss some educational consequences of a reinforcement deficit. The developmental reinforcement process is composed of a hierarchy of four levels. Development takes place in…

  5. Quantifying Poststroke Apathy With Actimeters.

    PubMed

    Goldfine, Andrew M; Dehbandi, Behdad; Kennedy, Juliana M; Sabot, Briana; Semper, Cory; Putrino, David

    2016-01-01

    The authors tested the hypothesis that wrist-worn actimeters can quantify the severity of poststroke apathy. The authors studied 57 patients admitted to an acute rehabilitation unit for ischemic or hemorrhagic stroke. After accounting for motor deficit of the affected arm and accounting for age, each increment of the Apathy Inventory score correlated with 5.6 fewer minutes of moving per hour. The overall statistical model had an R(2) of only 0.34, suggesting unexplained factors for total movement time. Wrist-worn actimeters may serve as an objective, quantifiable measure of poststroke apathy in patients with an intact upper extremity but cannot be used alone to diagnose apathy. PMID:26900735

  6. 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.

  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. [Acromegaly: reducing diagnostic delay].

    PubMed

    Giustina, Andrea

    2016-08-01

    Diagnostic delay of acromegaly is still very relevant (6-8 years on average) without substantial changes in last twenty years. Clinical impact of this diagnostic delay is significant: tumor growth (2/3 of the patients at diagnosis bear a pituitary macroadenoma), development of irreversible complications (arthropathy, sleep apnea) and in all increased mortality. Reasons for this delay are related to the disease itself (facial and acral changes are very slow and subtle) but also to medical unawareness. Simple tools based on a few sufficiently sensitive and specific signs and symptoms which can trigger the diagnostic suspect would be useful in clinical practice. Global evaluation during follow-up (tumor volume, signs and symptoms, complications, circulating levels of growth hormone and its peripheral mediator IGF-I) has become crucial for the therapeutic decision making. In this regard, tools like SAGIT are now under validation and are expected to improve management of acromegaly. In fact, in the last 30 years there has been a relevant growth of the medical options to treat acromegaly and in the near future there will be an expansion of the medical options. This will greatly help the needed personalization of treatment which necessarily should consider patient convenience and preference and control of complications such as diabetes mellitus. PMID:27571562

  9. Infant overweight is associated with delayed motor development

    PubMed Central

    Slining, Meghan; Adair, Linda S.; Goldman, Barbara Davis; Borja, Judith B.; Bentley, Margaret

    2012-01-01

    Objective To examine how infant overweight and high subcutaneous fat relate to infant motor development. Study design Participants are from the Infant Care, Feeding, and Risk of Obesity Project, a prospective, longitudinal study of low-income African American mother-infant dyads assessed from 3 -18 months of age (836 observations on 217 infants). Exposures were overweight (weight-for-length z-score ≥90th percentile of 2000 CDC/NCHS growth reference) and high subcutaneous fat (sum of three skinfold measurements >90th percentile of our sample). Motor development was assessed using Bayley Scales of Infant Development-II. Developmental delay was characterized as a standardized Psychomotor Development Index score <85. Longitudinal models estimated developmental outcomes as functions of time-varying overweight and subcutaneous fat, controlling for age and sex. Alternate models tested concurrent and lagged relationships (prior weight or subcutaneous fat predicting current motor development). Results Motor delay was 1.80 times as likely in overweight compared with non-overweight infants (95% CI:1.09, 2.97), and 2.32 times as likely in infants with high subcutaneous fat compared with lower subcutaneous fat (95% CI:1.26, 4.29). High subcutaneous fat was also associated with delay in subsequent motor development (OR=2.27, 95% CI:1.08, 4.76). Conclusions Pediatric overweight and high subcutaneous fat are associated with delayed infant motor development. PMID:20227724

  10. Assessing delay discounting in mice

    PubMed Central

    Mitchell, Suzanne H.

    2014-01-01

    Delay discounting (also intertemporal choice or impulsive choice) is the process by which delayed outcomes, such as delayed food delivery, are valued less than the same outcomes delivered immediately or with a shorter delay. This process is of interest because many psychopathologies, including substance dependence, pathological gambling, attention deficit hyperactivity disorder and conduct disorder, are characterized by heightened levels of delay discounting. Some of these disorders are heritable, and data indicate that delay discounting also has a genetic component. To identify the genes underlying the delay discounting decision-making process and genetic correlates of heightened discounting, researchers have used mouse models. This unit describes a protocol for generating delay discounting behavior in mice and discusses analysis techniques for such behavior. PMID:24510779

  11. Delayed Speech or Language Development

    MedlinePlus

    ... to Know About Zika & Pregnancy Delayed Speech or Language Development KidsHealth > For Parents > Delayed Speech or Language ... your child is right on schedule. Normal Speech & Language Development It's important to discuss early speech and ...

  12. Tooth formation - delayed or absent

    MedlinePlus

    Delayed or absent tooth formation; Teeth - delayed or absent formation ... The age at which a tooth comes in varies. Most infants get their first tooth between 6 and 9 months, but it may be earlier or later. ...

  13. 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

  14. Exosomes in developmental signalling.

    PubMed

    McGough, Ian John; Vincent, Jean-Paul

    2016-07-15

    In order to achieve coordinated growth and patterning during development, cells must communicate with one another, sending and receiving signals that regulate their activities. Such developmental signals can be soluble, bound to the extracellular matrix, or tethered to the surface of adjacent cells. Cells can also signal by releasing exosomes - extracellular vesicles containing bioactive molecules such as RNA, DNA and enzymes. Recent work has suggested that exosomes can also carry signalling proteins, including ligands of the Notch receptor and secreted proteins of the Hedgehog and WNT families. Here, we describe the various types of exosomes and their biogenesis. We then survey the experimental strategies used so far to interfere with exosome formation and critically assess the role of exosomes in developmental signalling. PMID:27436038

  15. Developmental haemostasis: secondary haemostasis.

    PubMed

    Monagle, Paul; Massicotte, Patricia

    2011-12-01

    The haemostatic system is a complex interaction between the vasculature, cellular components and plasma proteins that interact to maintain haemostasis in the healthy body. The haemostatic system can be further defined as primary, secondary and tertiary haemostasis to better define the interdependent mechanisms that combine to maintain haemostasis. The term 'developmental haemostasis' was first introduced by Maureen Andrews in the 1980s to describe the age-related physiological changes of the coagulation system as it develops progressively over time from fetal, neonatal, paediatric to adult and geriatric systems. This paper will focus on developmental changes in secondary haemostasis, that is, the plasma protein changes that occur with age, particularly during the fetal and neonatal period, when the changes are most marked compared to the adult system.

  16. 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.

  17. 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.

  18. 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.

  19. 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

  20. Transfer Delays From the Neurologic Intensive Care Unit

    PubMed Central

    Batra, Ayush; Biffi, Alessandro; Cohen, Adam B.

    2015-01-01

    Introduction: Neurocritical care beds are a scarce, valuable resource. The purpose of this pilot study was to quantify discharge delays from the neurologic intensive care unit (NICU) at a tertiary-care teaching hospital and to examine the impact on overall hospital length of stay (LOS). Secondary goals were to evaluate (1) the effect of NICU delays on patient physical/occupational therapy services and (2) the accuracy of clinician estimates of NICU discharge date and hospital LOS. Methods: We conducted a prospective cohort study of consecutive patients discharged over 1 month from NICU. A patient was defined to have experienced a delay when deemed medically ready for NICU discharge (ie, floor transfer) but without actual NICU discharge within 8 hours of the ready time. Results: Sixty-five patients were discharged from the NICU with an average delay of 25 hours 51 minutes (median 13 hours 3 minutes), of which 60% (39 of 65) of patients were delayed at least 8 hours, while 25% (16 of 65) were delayed at least 48 hours. The primary reason for delay was lack of floor bed availability. NICU admissions that experienced a delay did not have a significantly longer hospital LOS. Clinician estimates on admission of NICU discharge date were within 24 hours for 63% of admissions. Conclusion: Discharge delays from the NICU were common but did not significantly increase hospital LOS in this cohort. Delays did not have a significant impact on total physical therapy or occupational therapy duration. Clinician estimates of NICU discharge dates were relatively accurate. PMID:27053982