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Sample records for quantify developmental delay

  1. Developmental delay

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Nutrition support is essential for the care of the child with developmental delay. After a thorough evaluation, an individualized intervention plan that accounts for the child’s nutrition status, feeding ability, and medical condition may be determined. Nutrition assessments may be performed at leas...

  2. 34 CFR 303.10 - Developmental delay.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 34 Education 2 2013-07-01 2013-07-01 false Developmental delay. 303.10 Section 303.10 Education Regulations of the Offices of the Department of Education (Continued) OFFICE OF SPECIAL EDUCATION AND... DISABILITIES General Definitions Used in This Part § 303.10 Developmental delay. Developmental delay, when...

  3. 34 CFR 303.10 - Developmental delay.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 34 Education 2 2014-07-01 2013-07-01 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 Definitions Used in This Part § 303.10 Developmental delay. Developmental delay, when...

  4. 34 CFR 303.10 - Developmental delay.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 34 Education 2 2012-07-01 2012-07-01 false Developmental delay. 303.10 Section 303.10 Education Regulations of the Offices of the Department of Education (Continued) OFFICE OF SPECIAL EDUCATION AND... DISABILITIES General Definitions Used in This Part § 303.10 Developmental delay. Developmental delay, when...

  5. Literacy Activities for Developmentally Delayed Adults.

    ERIC Educational Resources Information Center

    Giordano, Gerard; D'Alonzo, Bruno J.

    1993-01-01

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

  6. 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…

  7. 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...

  8. 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…

  9. 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...

  10. 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. PMID:26161471

  11. 34 CFR 303.111 - State definition of developmental delay.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 34 Education 2 2014-07-01 2013-07-01 true State definition of developmental delay. 303.111 Section... System Minimum Components of A Statewide System § 303.111 State definition of developmental delay. Each system must include the State's rigorous definition of developmental delay, consistent with §§ 303.10...

  12. 34 CFR 303.161 - State definition of developmental delay.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 34 Education 2 2010-07-01 2010-07-01 false State definition of developmental delay. 303.161...-Application Requirements § 303.161 State definition of developmental delay. Each application must include the State's definition of “developmental delay,” as described in § 303.300. (Approved by the Office...

  13. 34 CFR 303.161 - State definition of developmental delay.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 34 Education 2 2011-07-01 2010-07-01 true State definition of developmental delay. 303.161 Section...-Application Requirements § 303.161 State definition of developmental delay. Each application must include the State's definition of “developmental delay,” as described in § 303.300. (Approved by the Office...

  14. 34 CFR 303.111 - State definition of developmental delay.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 34 Education 2 2013-07-01 2013-07-01 false State definition of developmental delay. 303.111... System Minimum Components of A Statewide System § 303.111 State definition of developmental delay. Each system must include the State's rigorous definition of developmental delay, consistent with §§ 303.10...

  15. 34 CFR 303.111 - State definition of developmental delay.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 34 Education 2 2012-07-01 2012-07-01 false State definition of developmental delay. 303.111... System Minimum Components of A Statewide System § 303.111 State definition of developmental delay. Each system must include the State's rigorous definition of developmental delay, consistent with §§ 303.10...

  16. 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. PMID:26555812

  17. 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

  18. 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…

  19. Genetic Insights May Help Kids Battling Developmental Delays

    MedlinePlus

    ... page: https://medlineplus.gov/news/fullstory_159026.html Genetic Insights May Help Kids Battling Developmental Delays DNA ... delays, with a new study showing that extensive genetic analysis may help determine the cause of their ...

  20. Genetic Insights May Help Kids Battling Developmental Delays

    MedlinePlus

    ... nlm.nih.gov/medlineplus/news/fullstory_159026.html Genetic Insights May Help Kids Battling Developmental Delays DNA ... delays, with a new study showing that extensive genetic analysis may help determine the cause of their ...

  1. 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

  2. Social Skills and Their Correlates: Preschoolers with Developmental Delays.

    ERIC Educational Resources Information Center

    Kopp, Claire B.; And Others

    1992-01-01

    Fifteen preschool children with mild mental retardation (developmental delays) were observed during play with nondisabled peers. Children with delays showed less social play, more disruptive entry, more regressive behaviors, and less positive affect; their level of social play related to developmental age and communication ability but not to…

  3. 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

  4. 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

  5. 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

  6. The child with developmental delay: An approach to etiology

    PubMed Central

    Meschino, Wendy S

    2003-01-01

    OBJECTIVE: To describe an approach to history, physical examination and investigation for the developmentally delayed child. METHODS: A review of electronic databases from 1997 to 2001 was done searching for articles relating to the approach to or investigations of children with developmental delay. Five studies, including a review of a consensus conference on evaluation of mental retardation, were chosen because of their general approaches to developmental delay and/or mental retardation, or specific evaluations of a particular laboratory investigation. CONCLUSIONS: A diagnosis or cause of mental retardation can be identified in 20% to 60% of cases. Evaluation of the developmentally delayed child should include a detailed history and physical examination, taking special care to record a three-generation pedigree, as well as to look for dysmorphic features. If no other cause is apparent, routine investigations should include a chromosome study and fragile X studies. Further investigations are warranted depending on the clinical features. PMID:20011550

  7. When Something Isn't Right: Developmental Delays and Disabilities.

    ERIC Educational Resources Information Center

    Hardie, Ann

    1999-01-01

    Presents strategies for early childhood educators and child caregivers for identifying potential developmental delays and disabilities among the children they work with. Suggests using a developmental checklist, documenting actual activities, talking with the director, meeting with the parents, and referring parents to the appropriate agency. (KB)

  8. Toddlers with Developmental Delays and Challenging Behaviors

    ERIC Educational Resources Information Center

    Keller, Kathryn M.; Fox, Robert A.

    2009-01-01

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

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

    ERIC Educational Resources Information Center

    Miller, Leon K.

    1987-01-01

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

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

    SciTech Connect

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

    1995-07-03

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

  11. 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…

  12. Developmental Delay as an Eligibility Category. Concept Paper

    ERIC Educational Resources Information Center

    Division for Early Childhood, Council for Exceptional Children, 2009

    2009-01-01

    This concept paper was developed to address policies and practices for using developmental delay as a category of eligibility for young children. These policies and practices have evolved in response to changes in federal legislation and recommended practices in the field of early intervention and early childhood special education. The purpose of…

  13. Preschool Children With Developmental Delays and Limited English Proficiency

    ERIC Educational Resources Information Center

    Rodriguez, Cathi Draper; Higgins, Kyle

    2005-01-01

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

  14. 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…

  15. 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…

  16. 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…

  17. 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…

  18. 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. PMID:25642657

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  20. Effects of Child Age and Level of Developmental Delay on Family Practice Physicians' Diagnostic Impressions.

    ERIC Educational Resources Information Center

    Epps, Susan; Kroeker, Rose

    1995-01-01

    This study of the effects of child age (20 and 40 months) and level of developmental delay (mild and severe) on identification of developmental disorders by 155 family practice physicians provided evidence that identification of developmental delay was generally high across conditions, with mild delay being less likely to be detected. (Author/JDD)

  1. 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

  2. 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

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

    ERIC Educational Resources Information Center

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

    2016-01-01

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

  4. 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

  5. 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

  6. Prevention of Developmental Delays in a Down Syndrome Mouse Model

    PubMed Central

    Toso, Laura; Cameroni, Irene; Roberson, Robin; Abebe, Daniel; Bissell, Stephanie; Spong, Catherine Y.

    2009-01-01

    Objective To estimate whether prenatal treatment with neuroprotective peptides prevent the developmental delay and the glial deficit in the Ts65Dn mouse model for Down syndrome, and to explore the peptides effects on achievement of normal development. Methods Pregnant Ts65Dn females were randomly assigned to NAPVSIPQ+ SALLRSIPA or control and were treated by investigators blinded to treatment and genotype on gestational days 8–12. Offspring were tested from postnatal day (P) 5 to 21 for motor and sensory milestones with standardized tests by operators blinded to the pup’s treatment and genotype. The pup’s genotype was determined after completion of all tests. Activity-dependent-neurotrophic-factor, glial fibrillary acidic protein, and vasoactive intestinal peptide expression were determined using real time polymerase chain reaction. Results Trisomic (Ts) mice achieved milestones with a significant delay in 4 of 5 motor and sensory milestones. Ts mice that were prenatally exposed to NAPVSIPQ+SALLRSIPA achieved developmental milestones at the same time as the controls in 3 of 4 motor and 1 of 4 sensory milestones (p<0.01). Euploid pups prenatally treated with NAPVSIPQ+SALLRSIPA achieved developmental milestones significantly earlier than the euploid pups prenatally treated with placebo. Activity-dependent-neurotrophic-factor, expression was significantly downregulated in the Ts65Dn brains versus the controls, prenatal treatment with NAPVSIPQ+SALLRSIPA prevented the activity-dependent-neurotrophic-factor, decrease in the Ts65Dn brains, and the expression was not different from the controls. The glial marker glial fibrillary acidic protein demonstrated the known glial deficit in the Ts65Dn mice, and treatment with NAPVSIPQ+SALLRSIPA prevented its downregulation. Lastly, vasoactive intestinal peptide levels were increased in the Ts brains, while treatment with NAPVSIPQ+SALLRSIPA did not prevent its upregulation. Conclusions Prenatal treatment with NAPVSIPQ and

  7. Developmental profiles of preschool children with delayed language development

    PubMed Central

    Eun, Jeong Ji; Lee, Hyung Jik

    2014-01-01

    Purpose This study examines changes in developmental profiles of children with language delay over time and the clinical significance of assessment conducted at age 2-3 years. Methods We retrospectively reviewed the medical records of 70 children (62 male, 8 female), who had visited the hospital because of delayed language development at 2-3 years, and were reassessed at ages 5-6. Language and cognitive abilities were assessed using multiple scales at the initial and follow-up visits. Results At the initial test, 62 of the 70 children had mental development index (MDI) below 70 of Bayley Scales of Infant Development Test II. Of the 62 children in the follow-up assessment, 30 children (48.4%) remained within the same cognitive range (full-scale intelligence quotient, FSIQ<70 of Wechsler preschool and primary scale of intelligence), 12 had borderline intellectual functioning (FSIQ, 70-85), 6 improved to average intellectual functioning (FSIQ>85), and 5 had specific language impairment, 9 had autism spectrum disorders. At the initial test, 38 of the 70 children had cognitive developmental quotients (C-DQ) below 70. Of the 38 children in the follow-up assessment, 23 children (60.5%) remained within the same cognitive range (FSIQ<70). The correlation coefficient for MDI and FSIQ was 0.530 (P<0.0001) and that for C-DQ and FSIQ was 0.727 (P<0.0001). There was a strong correlation between C-DQ and FSIQ, and a moderate correlation between MDI and FSIQ. Conclusion Low MDI scores reflect a specific delay in cognitive abilities, communication skills, or both. The C-DQ, receptive language development quotient, and social maturity quotient also help to distinguish between children with isolated language delay and children with cooccurring cognitive impairment. Moreover, changes in the developmental profile during preschool years are not unusual in children with language delay. Follow-up reassessments prior to the start of school are required for a more accurate diagnosis and

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

    PubMed Central

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

    1987-01-01

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

  9. 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

  10. 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…

  11. 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…

  12. 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

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

    PubMed

    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 σ(66)-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

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

    PubMed

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

    2016-07-01

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

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

    PubMed Central

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

    2016-01-01

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

  16. 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

  17. Stress, Depression, and Support Group Participation in Mothers of Developmentally Delayed Children.

    ERIC Educational Resources Information Center

    Shapiro, Johanna

    1989-01-01

    Examined mothers (N=56) of children with a variety of developmental delays. Found support group participation and meaning attribution were associated with decreased levels of stress and depression as well as with specific coping strategies. (Author/ABL)

  18. 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

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

    ERIC Educational Resources Information Center

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

    2016-01-01

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

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  1. A Longitudinal Examination of Father Involvement with Children with Developmental Delays: Does Timing of Diagnosis Matter?

    ERIC Educational Resources Information Center

    Dyer, W. Justin; McBride, Brent A.; Jeans, Laurie M.

    2009-01-01

    With a representative sample of U.S. children born in 2001, growth curve modeling was used to investigate the association between father-child involvement and the developmental status of the child. Three groups of children, which varied by timing of developmental delay diagnosis, were compared for father involvement trajectories. These groups of…

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

    ERIC Educational Resources Information Center

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

    2010-01-01

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

  3. 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...

  4. 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…

  5. 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…

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

    PubMed Central

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

    2013-01-01

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

  7. 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

  8. 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. PMID:26527587

  9. 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

  10. 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,…

  11. 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…

  12. 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

  13. 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

  14. 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…

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  17. 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)…

  18. Preschool Children with and without Developmental Delay: Risk, Parenting, and Child Demandingness

    ERIC Educational Resources Information Center

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

    2011-01-01

    Although past literature has established relations between early child risk factors, negative parenting, and problematic child behavior, the nature of these interrelations and pathways of influence over time remains largely unknown, especially in children with developmental delays or disabilities. In the current study, data were drawn from the…

  19. 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…

  20. 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…

  1. Stability, Change, and Correlates of the Peer Relationships of Young Children with Mild Developmental Delays

    ERIC Educational Resources Information Center

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

    2006-01-01

    The peer relationships of young children with mild developmental (cognitive) delays recruited at 4--6 years of age were examined in a longitudinal study across a 2-year period. Results revealed only modest increases in children's peer interactions, a high degree of intraindividual stability, and the existence of a poorly organized and…

  2. 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…

  3. The Adaptive Project of Parenting: South Asian Families with Children with Developmental Delays.

    ERIC Educational Resources Information Center

    Raghavan, Chemba; Weisner, Thomas S.; Patel, Devindra

    1999-01-01

    This study compared patterns of family adaptation to children with developmental delays of South Asian families living in California with similar Euro-American families. Analysis of parent interviews found differences in family support, spousal relations, gender roles, cultural identity, and spirituality. Similarities were found in hope for…

  4. Stereotyped Behavior in Developmentally Delayed or Autistic Populations: Rhythmic or Nonrhythmic?

    ERIC Educational Resources Information Center

    Ross, Linda L.; Yu, Dickie; Kropla, William C.

    1998-01-01

    Examines various stereotypy with developmentally delayed and autistic individuals (N=9) and used spectral methods to detect existence of periodicities. Participants who engaged in stereotypic rocking showed peaks in their power spectra; participants who engaged in other topographies of stereotypy did not show peaks. Results suggest that…

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

    ERIC Educational Resources Information Center

    Valentini, Nadia; Rudisill, Mary E.

    2004-01-01

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

  6. 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…

  7. 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…

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

    ERIC Educational Resources Information Center

    Trakadis, Yannis; Shevell, Michael

    2011-01-01

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

  9. 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…

  10. Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features

    PubMed Central

    BERTOK, Sara; ŽERJAV TANŠEK, Mojca; KOTNIK, Primož; BATTELINO, Tadej; VOLK, Marija; PECILE, Vanna; CLEVA, Lisa; GASPARINI, Paolo; KOVAČ, Jernej; HOVNIK, Tinka

    2015-01-01

    Introduction Developmental delay and dysmorphic features affect 1 – 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice for clinical diagnostics of developmental delay and dysmorphic features. Methods and results In the present article we describe the clinical advantages of molecular cytogenetic approach (comparative genomic hybridization arrays and single nucleotide polymorphism arrays) in the diagnostic procedure of two children with developmental delay, dysmorphic features and additional morphological phenotypes. Additionally, we demonstrate the necessity of fluorescent in situ hybridization utilisation to identify the localisation and underlying mechanism of detected chromosomal rearrangement. Conclusions Two types of chromosomal abnormalities were identified and confirmed using different molecular genetic approaches. Comparative genomic hybridization arrays and single nucleotide polymorphism arrays are hereby presented as important methods to identify chromosomal imbalances in patients with developmental delay and dysmorphic features. We emphasize the importance of molecular genetic testing in patients’ parents for the demonstration of the origin and clinical importance of the aberrations prior determined in the patients. The results obtained using molecular cytogenetic high resolution techniques methods are the cornerstone for proper genetic counselling to the affected families.

  11. 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…

  12. Conversational Behaviour of Children with Developmental Language Delay and Their Caretakers

    ERIC Educational Resources Information Center

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

    2010-01-01

    Background: A subset of children with Developmental Language Delay (DLD) encountered difficulties with the regulation of spoken discourse. In the conversations of caretakers with DLD children, several studies report difficulties with turn-taking, a proneness to use the non-verbal register, child and caretaker problems with topic management.…

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

    ERIC Educational Resources Information Center

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

    2010-01-01

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

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

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

    ERIC Educational Resources Information Center

    Nihira, Kazuo; And Others

    1993-01-01

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

  16. Subtypes of Nonsocial Play: Comparisons between Young Children with and without Developmental Delays.

    ERIC Educational Resources Information Center

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

    2003-01-01

    Subtypes of nonsocial play were examined for matched groups of young typically developing children and children with mild developmental (cognitive) delays. Findings indicated that the nonsocial play of these children can be characterized as multidimensional in a manner similar to that of typically developing children. However, context did not…

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

    ERIC Educational Resources Information Center

    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…

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

  19. 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.

  20. 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…

  1. The Administrative Population Report on Children with Developmental Delays in Taiwan, 2003 through 2007

    ERIC Educational Resources Information Center

    Lin, Jin-Ding; Yen, Chia-Feng; Wu, Jia-Ling; Kang, Shih-Wan

    2009-01-01

    This paper was a population study with developmental delays and it included an examination of the trends the overtime change trend and reported channels of this group of people in Taiwan. We analyzed data for the present study mainly from the Department of Statistics, Ministry of the Interiors, Taipei, Taiwan: "Number of early intervention for…

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

    ERIC Educational Resources Information Center

    Niccols, Alison; Feldman, Maurice

    2006-01-01

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

  3. 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…

  4. 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)…

  5. 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…

  6. 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…

  7. 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,…

  8. Vacuolated lymphocytes signifying a metabolic disorder in an infant with developmental delay.

    PubMed

    Salama, Rasha; Zhou, Jiehao

    2016-01-01

    Metabolic disorders sometimes cause accumulation of metabolic byproducts which are manifested as cytoplasmic vacuoles in lymphocytes. We report the case of an infant with final diagnosis of GM1 gangliosidosis who initially presented with developmental delay and peripheral blood vacuolated lymphocytes. Blood film review is recommended in children suspicious for metabolic disorders. PMID:26783448

  9. 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…

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

    ERIC Educational Resources Information Center

    Robinson, Merideth; Neece, Cameron L.

    2015-01-01

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

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

    ERIC Educational Resources Information Center

    Sigman, Marian; Ruskin, Ellen

    1999-01-01

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

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

    ERIC Educational Resources Information Center

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

    2003-01-01

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

  13. 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…

  14. 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)

  15. 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…

  16. 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…

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  19. 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

  20. 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

  1. Functional Outcome of School Children With History of Global Developmental Delay.

    PubMed

    Dornelas, Lílian F; Duarte, Neuza M C; Morales, Nívea M O; Pinto, Rogério M C; Araújo, Renata R H; Pereira, Sílvia A; Magalhães, Lívia C

    2016-07-01

    This study aimed to investigate the functional and developmental outcomes in school age children diagnosed with global developmental delay before 2 years old and to verify the association between their final diagnosis and environmental and biological factors. Forty-five Brazilian children (26 boys), mean age 95.84 (7.72) months, who attended regular school and were diagnosed with global developmental delay before they were 2 years old had their functions evaluated. Children with global developmental delay were diagnosed with several conditions at school age. Students with greater chances of receiving a diagnosis were those whose mothers were younger at the time their children were born (OR = 1.47, CI = 1.04-2.09, P = .03), who had impaired motor performance, specially balance (OR = 1.33, CI = 1.01-1.75, P = .04), and who needed help during cognitive and behavioral tasks at school (OR = 1.08, CI = 1.00-1.17, P = .048). Interdisciplinary evaluation contributed to defining the specific diagnosis and to identifying the necessity of specialized support. PMID:26936059

  2. 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

  3. 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

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

    PubMed

    Gruber, Deborah J; Poulson, Claire L

    2016-03-01

    We evaluated the effects of a parent-implemented intervention to teach yoga poses to 3 children with developmental delays. Graduated guidance, provided by the participants' mothers, was introduced in a multiple baseline design across the participants. With the introduction of intervention, imitation of the response chains increased over baseline for all participants. Generalization to novel and live models occurred for 2 participants. Results are discussed in terms of using behavior-analytic procedures to teach physical fitness activities to individuals with developmental disabilities. PMID:26404416

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

    PubMed Central

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

    2012-01-01

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

  6. An analysis of a developmentally delayed young girl. Coordinating analytic and developmental processes.

    PubMed

    Olesker, Wendy

    2003-01-01

    Clinical material is presented from a multi-year treatment of a five-year-old girl with a variety of developmental interferences, making it necessary to consider whether standard technique would suffice. History includes the fact that she was adopted five days after birth and told as early as possible about her adoption; she was placed in a restrictive brace from four months to twenty months because of congenital hip displasia. Sandy's ability to let in the outside world was limited by her intense denial, not looking, not taking in, and by her detachment. Her passivity--whether a defense (modeled on her experience of physical restraint) or an arrest--was a formidable obstacle to the development of active transference moments. I use this case as an opportunity to look at the role of developmental sequences in the context of the analytic process. While I consciously did not do anything different than I would with any child analytic patient, I intuitively stressed certain kinds of interventions. PMID:14982015

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

    PubMed Central

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

    2010-01-01

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

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

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

    PubMed

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

    2015-10-01

    Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited genetic multisystem developmental condition with considerable phenotypic and allelic heterogeneity. Missense and in-frame deletions within the SMC1A gene can be associated with epilepsy and milder craniofacial features. We report two females who presented with developmental delay and developed isolated medically refractory seizures with unrevealing initial laboratory, imaging and genetic evaluations. Whole exome sequencing (WES) analyses were performed and were instrumental in uncovering the genetic etiology for their conditions. WES identified two novel de novo heterozygous frameshift mutations in the SMC1A gene [c.2853_2856delTCAG (p.Ser951Argfs*12) and c.3549_3552dupGGCC (p.Ile1185Glyfs*23)]. We also observed marked skewing of X-inactivation in one patient. The individual with the p.Ser951Argfs*12 mutation represents an extreme on the CdLS phenotypic spectrum, with prominent neurological involvement of severe developmental delay and refractory epilepsy, with mild craniofacial features. Both individuals eventually had incomplete clinical responses to therapy with valproic acid. We review previous reports of SMC1A mutations with epilepsy. SMC1A should be included in clinical gene panels for early infantile and early childhood epileptic encephalopathy. PMID:26386245

  10. 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

  11. 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.

  12. Idiopathic lactic acidemia with developmental delay and type 1 muscle fiber atrophy: report of two patients.

    PubMed

    Iso, A; Murakami, N; Yoneyama, H; Hanaoka, S; Kurokawa, T; Nonaka, I

    1993-01-01

    Two infants with generalized muscle hypotonia with mild muscle weakness and markedly delayed developmental milestones, had high lactate levels in serum and cerebrospinal fluid from early infancy. Biochemical and morphologic studies of biopsied muscles disclosed no abnormality except for type 1 fiber atrophy, which was quite different from patients with central nervous involvement with type 2 fiber atrophy. In both patients, the disease was not progressive and lactate levels gradually decreased. Although no metabolic defect was found, these patients probably shared common pathogenetic mechanism. PMID:8279656

  13. 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

  14. 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

  15. 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.

  16. 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

  17. Refining analyses of copy number variation identifies specific genes associated with developmental delay.

    PubMed

    Coe, Bradley P; Witherspoon, Kali; Rosenfeld, Jill A; van Bon, Bregje W M; Vulto-van Silfhout, Anneke T; Bosco, Paolo; Friend, Kathryn L; Baker, Carl; Buono, Serafino; Vissers, Lisenka E L M; Schuurs-Hoeijmakers, Janneke H; Hoischen, Alex; Pfundt, Rolph; Krumm, Nik; Carvill, Gemma L; Li, Deana; Amaral, David; Brown, Natasha; Lockhart, Paul J; Scheffer, Ingrid E; Alberti, Antonino; Shaw, Marie; Pettinato, Rosa; Tervo, Raymond; de Leeuw, Nicole; Reijnders, Margot R F; Torchia, Beth S; Peeters, Hilde; O'Roak, Brian J; Fichera, Marco; Hehir-Kwa, Jayne Y; Shendure, Jay; Mefford, Heather C; Haan, Eric; Gécz, Jozef; de Vries, Bert B A; Romano, Corrado; Eichler, Evan E

    2014-10-01

    Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Follow-up of a subset of affected individuals identified new clinical subtypes of pediatric disease and the genes responsible for disease-associated CNVs. These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. This combined CNV and SNV approach facilitates the rapid discovery of new syndromes and genes involved in neuropsychiatric disease despite extensive genetic heterogeneity. PMID:25217958

  18. 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. PMID:26333423

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

    PubMed Central

    Grønhøj Larsen, Christian; Charabi, Birgitte

    2015-01-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  2. 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

  3. 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. PMID:25902518

  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. PMID:27425563

  6. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

    PubMed

    Chakraborty, Pranesh K; Schmitz-Abe, Klaus; Kennedy, Erin K; Mamady, Hapsatou; Naas, Turaya; Durie, Danielle; Campagna, Dean R; Lau, Ashley; Sendamarai, Anoop K; Wiseman, Daniel H; May, Alison; Jolles, Stephen; Connor, Philip; Powell, Colin; Heeney, Matthew M; Giardina, Patricia-Jane; Klaassen, Robert J; Kannengiesser, Caroline; Thuret, Isabelle; Thompson, Alexis A; Marques, Laura; Hughes, Stephen; Bonney, Denise K; Bottomley, Sylvia S; Wynn, Robert F; Laxer, Ronald M; Minniti, Caterina P; Moppett, John; Bordon, Victoria; Geraghty, Michael; Joyce, Paul B M; Markianos, Kyriacos; Rudner, Adam D; Holcik, Martin; Fleming, Mark D

    2014-10-30

    Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Here we demonstrate that SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs. Using budding yeast lacking the TRNT1 homolog, CCA1, we confirm that the patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy. PMID:25193871

  7. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

    PubMed Central

    Schmitz-Abe, Klaus; Kennedy, Erin K.; Mamady, Hapsatou; Naas, Turaya; Durie, Danielle; Campagna, Dean R.; Lau, Ashley; Sendamarai, Anoop K.; Wiseman, Daniel H.; May, Alison; Jolles, Stephen; Connor, Philip; Powell, Colin; Heeney, Matthew M.; Giardina, Patricia-Jane; Klaassen, Robert J.; Kannengiesser, Caroline; Thuret, Isabelle; Thompson, Alexis A.; Marques, Laura; Hughes, Stephen; Bonney, Denise K.; Bottomley, Sylvia S.; Wynn, Robert F.; Laxer, Ronald M.; Minniti, Caterina P.; Moppett, John; Bordon, Victoria; Geraghty, Michael; Joyce, Paul B. M.; Markianos, Kyriacos; Rudner, Adam D.; Holcik, Martin

    2014-01-01

    Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Here we demonstrate that SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs. Using budding yeast lacking the TRNT1 homolog, CCA1, we confirm that the patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy. PMID:25193871

  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. Current practices in sensory motor programming with developmentally delayed infants and young children.

    PubMed

    Pothier, P C; Cheek, K

    1984-01-01

    This study examined the current practices of sensory motor programming with developmentally delayed infants and young children. A survey was conducted of facilities listed as serving this population group. There were 625 facilities which responded (response rate 84%). The responses of these facilities showed that each modal facility served between 21-50 children in day settings, and that 95% of the facilities offered individualized sensory motor programmes. Responses indicated that the way sensory motor programming was developed, the activities used, and the expected benefits had a high degree of similarity. Differences, however, were reported in the professional background of the programme directors, in their theoretical orientation, and in the assessment instruments used for developing and evaluating sensory motor programmes. There are implications for future study. PMID:6085290

  10. Body Weight Support Treadmill Training for Children With Developmental Delay Who Are Ambulatory

    PubMed Central

    Lowe, Leah; McMillan, Amy Gross; Yates, Charlotte

    2015-01-01

    Purpose To examine the effect of body weight supported treadmill training (BWSTT) on gait and gross motor skill development in children (2–5 years old) with developmental delay who are ambulatory. Methods Twenty-four subjects (12 control, 12 BWSTT) were enrolled in this randomized control trial. All subjects continued to receive physical therapy. Subjects were tested at baseline, 4 weeks, 6 weeks, and at 6 weeks following completion of BWSTT. Outcomes were assessed using the 10 Meter Walk Test (10MWT) and Gross Motor Function Measure- D and E. Results Significant improvements were seen in gait velocity and gross motor skill attainment. With positive interactions in both the 10MWT and GMFM-E, the BWSTT group as compared to the control group demonstrated functional gains in gait velocity and gross motor skills, P = .033 and.017, respectively. Conclusions A 6-week high intensity BWSTT program can improve gait velocity and influence functional gains. PMID:26397083

  11. 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

  12. Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.

    PubMed

    de Vries, B B; van'tHoff, W G; Surtees, R A; Winter, R M

    2001-04-01

    We present four cases with nephrotic syndrome, microcephaly and severe developmental delay. In the differential diagnosis the Galloway-Mowat syndrome, PEHO syndrome, ARC syndrome and the carbohydrate-deficient glycoprotein (CDG) syndrome are considered and discussed. One case may fall into the Galloway-Mowat spectrum and another case was diagnosed with the CDG syndrome. This case is the third report of a nephrotic syndrome as a part of the CDG syndrome. Two remaining cases with cerebellar and brain stem atrophy, and without major histopathological changes in the kidney were left without a definite unifying diagnosis and may well represent a different unknown condition. Although microcephaly and nephrotic syndrome with or without hiatus hernia has been equated with Galloway-Mowat syndrome in the literature, the brain and renal pathology in these reported cases has been very variable. It is likely that this group as a whole is aetiologically heterogeneous. PMID:11310991

  13. 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

  14. 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

  15. 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…

  16. 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…

  17. 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…

  18. 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…

  19. Conversational Roles of Children with Developmental Delays and Their Mothers in Natural and Semi-Structured Situations.

    ERIC Educational Resources Information Center

    Hecht, Barbara Frant; And Others

    1993-01-01

    This study of the pragmatic characteristics of conversations between mothers and their 30 preschool children with developmental delays found significant differences between naturally occurring and researcher-introduced semistructured situations in the proportions of conversational turns taken and the pragmatic functions of mothers' and children's…

  20. 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,…

  1. 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.

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

    ERIC Educational Resources Information Center

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

    2009-01-01

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

  3. 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…

  4. The Effects of Teacher Planning and Error Analysis on Simple Verbal Labeling by Developmentally Delayed Preschool Children.

    ERIC Educational Resources Information Center

    Cavallaro, Claire C.; Young, Clifford C.

    Examined were the effects of four teachers' use of a data-based behaviorally oriented planning technique on the verbal labeling performance of eight developmentally delayed children (2-5 years old). Teachers were introduced to a 10-tactic planning technique that included behaviors ranging from simply counting the number of correct and incorrect…

  5. 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)…

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

    ERIC Educational Resources Information Center

    Kouri, Theresa A.

    2005-01-01

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

  7. 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…

  8. 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,…

  9. 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…

  10. 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…

  11. 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…

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

    NASA Astrophysics Data System (ADS)

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

    2013-12-01

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

  13. 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

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

    PubMed

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

    2016-08-01

    Triadimefon (TDF) is a triazole-derivative fungicide that is detectable in the environment and target agricultural products, prompting concern over its risk to wildlife and human health. In our study, Nieuwkoop & Faber stage 51 Xenopus laevis tadpoles were exposed to different nominal concentrations TDF (0, 0.112, and 1.12mg/L) for 21 days while the tadpoles were undergoing pre-morphological development. Developmental condition, bioaccumulation and thyroid hormone levels, and mRNA expression of genes involved in the hypothalamic-pituitary-thyroid (HPT) axis were examined. Exposure to TDF caused a reduction in developmental rates on pre-metamorphosis of X. laevis. TDF exposure significantly decreased thyroid hormone (T4 and T3) concentrations, indicating thyroid endocrine disruption. The downregulation of thyroglobulin and upregulation of genes related to thyroid hormone metabolism (ugt1ab) might be responsible for the decreased thyroid hormone concentrations. Treatment with TDF also significantly increased mRNA expression of genes involved in thyroid-stimulating hormone as a compensatory mechanism response to decreased thyroid hormone concentrations. Gene expression and in silico ligand docking studies were combined to study the interaction between TDF and thyroid hormone receptor. Results showed that TDF could consequently affect the HPT axis signaling pathway. In addition, bioconcentration of TDF was observed in tadpoles, indicating the bioactivity of this compound. Taken together, the results suggest that TDF alters the HPT axis-related genes and changes thyroid hormone contents in X. laevis tadpoles, thus causing thyroid endocrine disruption and consequently delaying thyroid hormones-dependent metamorphic development. PMID:27289584

  15. 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

  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. PMID:26169316

  17. Reduced Cortical Complexity in Children with Prader-Willi Syndrome and Its Association with Cognitive Impairment and Developmental Delay

    PubMed Central

    Lukoshe, Akvile; Hokken-Koelega, Anita C.; van der Lugt, Aad; White, Tonya

    2014-01-01

    Background Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. Methods High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL), 12 with maternal uniparental disomy (mUPD)) and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI) was obtained using the FreeSurfer software suite. Results Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. Conclusions These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to alterations in gene

  18. Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities.

    PubMed

    Damnjanovic, Tatjana; Cuturilo, Goran; Maksimovic, Nela; Dimitrijevic, Nikola; Mitic, Vesna; Jekic, Biljana; Lukovic, Ljiljana; Bunjevacki, Vera; Varljen, Tatjana; Dobricic, Valerija; Jovanovic, Ida; Kostic, Vladimir; Novakovic, Ivana

    2015-01-01

    Developmental delay and intellectual disabilities (DD/ID) are significant health problems affecting 3% of the human population. Submicroscopic chromosomal rearrangements involving subtelomeric regions are often considered to be the cause of unexplained DD/ID. Screening of subtelomeric regions was performed in 80 unrelated patients with DD/ID and normal GTG-banded chromosomes using the MLPA method with two kits (SALSA P070-B1 and P036-E1). The MLPA screening revealed subtelomeric chromosome aberrations in four cases (5%). The aberrations detected were: 1p deletion, 1p deletion combined with 12q duplication, 4p deletion, and 9p deletion combined with 15q duplication. The deletions detected were classified as causative for the patients' observed phenotypes. This study confirms the high frequency of subtelomeric rearrangements in unexplained DD/ID and reinforces the argument for routine subtelomeric screening in order to get a correct diagnosis, establish genotype-phenotype correlations and offer accurate genetic counseling. PMID:26690596

  19. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

    PubMed

    Fukai, Ryoko; Saitsu, Hirotomo; Tsurusaki, Yoshinori; Sakai, Yasunari; Haginoya, Kazuhiro; Takahashi, Kazumasa; Hubshman, Monika Weisz; Okamoto, Nobuhiko; Nakashima, Mitsuko; Tanaka, Fumiaki; Miyake, Noriko; Matsumoto, Naomichi

    2016-05-01

    The voltage-gated Kv10.1 potassium channel, also known as ether-a-go-go-related gene 1, encoded by KCNH1 (potassium voltage-gated channel, subfamily H (eag related), member 1) is predominantly expressed in the central nervous system. Recently, de novo missense KCNH1 mutations have been identified in six patients with Zimmermann-Laband syndrome and in four patients with Temple-Baraitser syndrome. These syndromes were historically considered distinct. Here we report three de novo missense KCNH1 mutations in four patients with syndromic developmental delay and epilepsy. Two novel KCNH1 mutations (p.R357Q and p.R357P), found in three patients, were located at the evolutionally highly conserved arginine in the channel voltage-sensor domain (S4). Another mutation (p.G496E) was found in the channel pore domain (S6) helix, which acts as a hinge in activation gating and mainly conducts non-inactivating outward potassium current. A previously reported p.G496R mutation was shown to produce no voltage-dependent outward current in CHO cells, suggesting that p.G496E may also disrupt the proper function of the Kv channel pore. Our report confirms that KCNH1 mutations are associated with syndromic neurodevelopmental disorder, and also support the functional importance of the S4 domain. PMID:26818738

  20. 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

  1. 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

  2. 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

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

    PubMed Central

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

    2015-01-01

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

  4. 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

  5. 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

  6. 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

  7. 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. PMID:27094857

  8. 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. PMID:27374896

  9. 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…

  10. 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

  11. 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

  12. 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

  13. 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. PMID:23188886

  14. 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

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

    PubMed Central

    Bagner, Daniel M.; Graziano, Paulo A.

    2015-01-01

    The purpose of this study was to examine the effect of cumulative risk on dropout and treatment outcome in parent training. Participants were 44 families of young children (mean age of 49.59 months) who presented with elevated externalizing behavior problems and developmental delay or borderline developmental delay. All families were offered to receive Parent–Child Interaction Therapy (PCIT), an evidence-based, behavioral parent-training intervention, at a hospital-based outpatient clinic. Cumulative risk was calculated as a sum of risk variables, including socioeconomic disadvantage (poverty, low maternal education), family structure (single-parent household), and maternal risk characteristics (minority status, lower intelligence, and parental distress). Families with higher cumulative risk scores, especially those with three or more risks, were more likely to drop out of treatment and display diminished treatment response in child behavior and parenting skills compared with families with lower cumulative risk scores. However, only two individual risk factors (i.e., minority status and family structure) predicted dropout, and one individual risk factor (i.e., maternal education) predicted outcome. These findings suggest that it can be useful to conceptualize risk factors as having a cumulative, in addition to individual, influence on parent-training interventions for children with developmental delay and have significant implications for clinical practice. It is important for clinicians to regularly assess for risk factors, and future research should examine ways in which clinicians can improve retention and outcome of parent training in the presence of multiple risk factors. PMID:23188886

  16. EMOTIONAL AVAILABILITY IN EARLY MOTHER-CHILD INTERACTIONS FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS, OTHER PSYCHIATRIC DISORDERS, AND DEVELOPMENTAL DELAY.

    PubMed

    Gul, Hesna; Erol, Nese; Pamir Akin, Duygu; Ustun Gullu, Belgin; Akcakin, Melda; Alpas, Başak; Öner, Özgür

    2016-03-01

    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, ). 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, ; Z. Biringen, J.L. Robinson, & R.N. Emde, ) 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. PMID:26891759

  17. 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. PMID:22987596

  18. Hyporesponsiveness to social and nonsocial sensory stimuli in children with autism, children with developmental delays, and typically developing children.

    PubMed

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

    2013-05-01

    This cross-sectional study seeks to (a) describe developmental correlates of sensory hyporesponsiveness to social and nonsocial stimuli, (b) determine whether hyporesponsiveness is generalized across contexts in children with autism relative to controls, and (c) test the associations between hyporesponsiveness and social communication outcomes. Three groups of children ages 11-105 months (N = 178; autism = 63, developmental delay = 47, typical development = 68) are given developmental and sensory measures including a behavioral orienting task (the Sensory Processing Assessment). Lab measures are significantly correlated with parental reports of sensory hyporesponsiveness. Censored regression models show that hyporesponsiveness decreased across groups with increasing mental age (MA). Group differences are significant but depend upon two-way interactions with MA and context (social and nonsocial). At a very young MA (e.g., 6 months), the autism group demonstrates more hyporesponsiveness to social and nonsocial stimuli (with larger effects for social) than developmental delay and typically developing groups, but at an older MA (e.g., 60 months) there are no significant differences. Hyporesponsiveness to social and nonsocial stimuli predicts lower levels of joint attention and language in children with autism. Generalized processes in attention disengagement and behavioral orienting may have relevance for identifying early risk factors of autism and for facilitating learning across contexts to support the development of joint attention and language. PMID:23627946

  19. 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

  20. Are clusters of mental retardation correlated with clusters of developmental delay?

    PubMed

    Zhen, Huiling; McDermott, Suzanne; Lawson, Andrew B; Aelion, Marjorie

    2009-11-01

    Mental retardation (MR) is a subset of developmental delay (DD), a broader classification of childhood disability. The purpose of this study was to determine if clusters of these two conditions were statistically significantly correlated. The residential addresses of 81,935 Medicaid insured pregnant women during each month of pregnancy were used to identify clusters of MR and DD in their children. Correlations between MR and DD were computed based on the sets of P-value surface from selected centroid points, where the P-value for cumulative relative risk of MR and DD was known. The correlations are quite small for all the 10 gestational months for which maternal addresses were available, but they are all statistically significant. This indicates MR and DD are correlated, but they are not linear. When MR was used as the centroid point to identify a cluster the only correlations that were statistically significant were for gestational month 5 and 6 with correlation 0.14 (P = 0.007) for both months. When the centroid points were selected based on the significance of risk of DD, the correlations between MR and DD are not statistically significant for any month. Correlation between MR and DD based on the sets of P-value surfaces from 4 MR clusters are significant in gestational month 5, 6 and 7 with correlation 0.17 (P = 0.047), 0.16 (P = 0.060) and 0.17 (P = 0.044), respectively. Our finding suggests that locations of high risk for the more severe condition, MR, also identify a spatial area where less severe cases of DD might be present, however the reverse is not the case. PMID:19908187

  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. 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

  3. 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.

  4. 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

  5. A randomized controlled trial of routines-based early intervention for children with or at risk for developmental delay.

    PubMed

    Hwang, Ai-Wen; Chao, Mei-Yuan; Liu, Shu-Wen

    2013-10-01

    Routines-based early intervention (RBEI) for children with or at risk for developmental delay encourages collaboration between professionals and families to enhance children's participation in family routines with family-selected goals. We conducted the first single-blinded randomized control trial to examine the effectiveness of a 6-month RBEI vs. traditional home visiting (THV), which uses a curriculum focused on children's developmental domains. Thirty-one families with children aged 5-30 months (mean age 17.4 months) with or at risk for developmental delay were randomly assigned to an RBEI group (n=15) or a THV group (n=16). The enrolled children were evaluated using the Chinese version of Pediatric Evaluation of Disability Inventory (PEDI-C) and the Comprehensive Development Inventory for Infants and Toddlers (CDIIT) at 5 time points. Two-way mixed analysis of variance (ANOVA) was used to examine the group by stage interactions. Goal Attainment Scaling (GAS) and the Canadian Occupational Performance Measure (COPM) were applied to explore between-group differences on individualized goal achievement. PEDI-C showed that the RBEI group had a faster progress rate in self-care functions and independence in social functions in the first 3 months of intervention and at the 6-month follow-up. The RBEI group also scored higher on the GAS in the first 3 months of intervention. However, between-group differences in changes in the developmental domains on the CDIIT were not significant. Thus, RBEI was more effective than THV in promoting functional outcomes and reaching family-selected goals, while both interventions allowed equal improvement in developmental domains. PMID:23886756

  6. WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

    PubMed

    Hoffjan, Sabine; Ibisler, Aysegül; Tschentscher, Anne; Dekomien, Gabriele; Bidinost, Carla; Rosa, Alberto L

    2016-02-01

    Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed by a secondary neurological decline with parkinsonism and/or dementia in adolescence or early adulthood. Recent reports suggest that WDR45 mutations are associated with a broader phenotypic spectrum. We identified a novel splice site mutation (c.440-2 A > G) in a 5-year-old Argentinian patient with Rett-like syndrome, exhibiting developmental delay, microcephaly, seizures and stereotypic hand movements, and discuss this finding, together with a review of the literature. Additional patients with a clinical diagnosis of Rett (-like) syndrome were also found to carry WDR45 mutations before (or without) clinical decline or signs of iron accumulation by magnetic resonance imaging (MRI). This information indicates that WDR45 mutations should be added to the growing list of genetic alterations linked to Rett-like syndrome. Further, clinical symptoms associated with WDR45 mutations ranged from early-onset epileptic encephalopathy in a male patient with a deletion of WDR45 to only mild cognitive delay in a female patient, suggesting that analysis of this gene should be considered more often in patients with developmental delay, regardless of severity. The increasing use of next generation sequencing technologies as well as longitudinal follow-up of patients with an early diagnosis will help to gain additional insight into the phenotypic spectrum associated with WDR45 mutations. PMID:26790960

  7. Neuropsychological Functioning of Siblings of Children with Autism, Siblings of Children with Developmental Language Delay, and Siblings of Children with Mental Retardation of Unknown Genetic Etiology

    ERIC Educational Resources Information Center

    Pilowsky, Tammy; Yirmiya, Nurit; Gross-Tsur, Varda; Shalev, Ruth S.

    2007-01-01

    Neuropsychological functioning of 30 siblings of children with autism (AU-S), 28 siblings of children with mental retardation of (MR-S), and 30 siblings of children with developmental language delay (DLD-S) was compared. Two siblings, both AU-S, received diagnoses of pervasive developmental disorder (PDD). More siblings with cognitive disabilities…

  8. Chronic Lung Disease and Developmental Delay at 2 Years of Age in Children Born Before 28 Weeks' Gestation

    PubMed Central

    Laughon, Matthew; O'Shea, Michael T.; Allred, Elizabeth N.; Bose, Carl; Kuban, Karl; Van Marter, Linda J.; Ehrenkranz, Richard A.; Leviton, Alan

    2009-01-01

    Introduction Extremely low gestational age newborns (ELGANs) are at increased risk of chronic lung disease (CLD) and of developmental delay. Some studies have suggested that CLD contributes to developmental delay. Patients and Methods We examined data collected prospectively on 915 infants born before the 28th week of gestation in 2002–2004 who were assessed at 24 months of age with the Bayley Scales of Infant Development-2nd Edition or the Vineland Adaptive Behavior Scales. We excluded infants who were not able to walk independently (Gross Motor Function Classification System score < 1) and, therefore, more likely to have functionally important fine motor impairments. We defined CLD as receipt of oxygen at 36 weeks' postmenstrual age and classified infants as either not receiving mechanical ventilation (MV) (CLD without MV) or receiving MV (CLD with MV). Results Forty-nine percent of ELGANs had CLD; of these, 14% were receiving MV at 36 weeks' postmenstrual age. ELGANs without CLD had the lowest risk of a Mental Developmental Index (MDI) or a Psychomotor Developmental Index (PDI) of <55, followed by ELGANs with CLD not receiving MV, and ELGANs with CLD receiving MV (9%, 12%, and 18% for the MDI and 7%, 10%, and 20% for the PDI, respectively). In time-oriented multivariate models, the risk of an MDI of <55 was associated with the following variables: gestational age of <25 weeks; single mother; late bacteremia; pneumothorax; and necrotizing enterocolitis. The risk of a PDI of <55 was associated with variables such as single mother, a complete course of antenatal corticosteroids, early and persistent pulmonary dysfunction, pulmonary deterioration during the second postnatal week, pneumothorax, and pulmonary interstitial emphysema. CLD, without or with MV, was not associated with the risk of either a low MDI or a low PDI. However, CLD with MV approached, but did not achieve, nominal statistical significance (odds ratio: 1.9 [95% confidence interval: 0.97–3

  9. 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

  10. Promoting the peer-related social development of young children with mild developmental delays: effectiveness of a comprehensive intervention.

    PubMed

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

    2006-09-01

    To address the unusual peer-related social competence difficulties characteristic of young children with mild developmental delays, we conducted a randomized clinical trial to evaluate the effectiveness of a comprehensive, developmentally oriented, highly individualized intervention extending over a 2-year period. Outcome measures emphasized generalization of peer interactions in unfamiliar playgroups. Results revealed modest effects of the intervention, with children who had lower cognitive levels benefiting most. Intervention effects were best conceptualized as preventative, minimizing the negative features and atypical patterns of children's social play with peers. Our discussion of future work was focused on alternative implementation models to enhance intervention intensity, inclusion of specific subgroups of children, and direct measurement of children engaging in social tasks. PMID:16968142

  11. Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

    PubMed Central

    Amouroux, Cyril; Vincent, Marie; Blanchet, Patricia; Puechberty, Jacques; Schneider, Anouck; Chaze, Anne Marie; Girard, Manon; Tournaire, Magali; Jorgensen, Christian; Morin, Denis; Sarda, Pierre; Lefort, Geneviève; Geneviève, David

    2012-01-01

    Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity. DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes such as Goldenhar or Wildervanck syndrome and chromosomal anomalies such as 12q12 deletion. We report on the case of a patient with DRS, developmental delay and particular facial features (horizontal and flared eyebrows, long and smooth philtrum, thin upper lip, full lower lip and full cheeks). We identified a duplication of the long arm of chromosome 8 (8q12) with SNP-array. This is the third case of a patient with common clinical features and 8q12 duplication described in the literature. The minimal critical region is 1.2 Mb and encompasses four genes: CA8, RAB2, RLBP1L1 and CHD7. To our knowledge, no information is available in the literature regarding pathological effects caused by to overexpression of these genes. However, loss of function of the CHD7 gene leads to CHARGE syndrome, suggesting a possible role of the overexpression of this gene in the phenotype observed in 8q12 duplication patients. We have observed that patients with 8q12 duplication share a common recognizable phenotype characterized by DRS, developmental delay and facial features. Such data combined to the literature strongly suggest that this entity may define a novel syndrome. We hypothesize that CHD7 duplication is responsible for a part of the features observed in 8q12.2 duplication. PMID:22258531

  12. Communicative Interactions of Mildly Delayed and Normally Developing Preschool Children: Effects of Listener's Developmental Level.

    ERIC Educational Resources Information Center

    Guralnick, Michael J.; Paul-Brown, Diane

    1986-01-01

    The communicative interactions of 32 mildly delayed and normally developing preschoolers were recorded during free play in a mainstreamed program. Analyses of syntactic complexity, semantic diversity, functional aspects of speech, and the use of selected discourse devices indicated that mildly delayed children adjusted important characteristics of…

  13. De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

    PubMed Central

    2013-01-01

    Background Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others. In the present study, we discuss the mechanism of triplications that are not embedded within duplications and potential genes which may contribute to the phenotype. Results The identified triplication of 11q12.3 was 557 kb long and not embedded within the duplicated regions. The aberrant region was overlapped with the segment reported to be duplicated in 2 other patients. The common phenotypic features in the present patient and the previously reported patient were brain developmental delay, finger abnormalities (including arachnodactuly, camptodactyly, brachydactyly, clinodactyly, and broad thumbs), and preauricular pits. Conclusions Triplications that are not embedded within duplicated regions are rare and sometimes observed as the consequence of non-allelic homologous recombination. The de novo triplication identified in the present study is novel and not embedded within the duplicated region. In the 11q12.3 region, many copy number variations were observed in the database. This may be the trigger of this rare triplication. Because the shortest region of overlap contained 2 candidate genes, STX5 and CHRM1, which show some relevance to neuronal functions, we believe that the genomic copy number gains of these genes may be responsible for the neurological features seen in these patients. PMID:23552394

  14. 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

  15. An examination of Anglo and Latino parenting practices: relation to behavior problems in children with or without developmental delay.

    PubMed

    Marquis, Willa A; Baker, Bruce L

    2014-02-01

    The transactional model of development has received empirical support in research on at-risk children. However, little is known about the role of ethnicity or child delay status (i.e., developmental delay [DD] or typical cognitive development [TD]) in the process of parents adapting to their child's behavior problems and special needs. We examined whether Latina (N=44) and Anglo (N=147) mothers of 3-year-old children with or without DD differed in their use of two parenting practices, maternal scaffolding and sensitivity. We also examined how the status and ethnic groups differed in child behavior problems at ages 3 and 5 and whether parenting predicted change in behavior problems over time in the ethnic and status groups. Analyses generally supported previous research on status group differences in behavior problems (DD higher) and parenting practices (TD higher). Parenting practices predicted a decrease in externalizing problems from child age 3 to 5 years among Latino families only. Child developmental status was not associated with change in behavior problems. Cultural perspectives on the transactional model of development and implications for intervention are discussed. PMID:24334227

  16. 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

  17. De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

    PubMed

    Pajusalu, Sander; Reimand, Tiia; Uibo, Oivi; Vasar, Maire; Talvik, Inga; Zilina, Olga; Tammur, Pille; Õunap, Katrin

    2015-01-01

    We report a female patient with a complex phenotype consisting of failure to thrive, developmental delay, congenital bronchiectasis, gastroesophageal reflux and bilateral inguinal hernias. Chromosomal microarray analysis revealed a 230 kilobase deletion in chromosomal region 17q21.32 (arr[hg19] 17q21.32(46 550 362-46 784 039)×1) encompassing only 9 genes - HOXB1 to HOXB9. The deletion was not found in her mother or father. This is the first report of a patient with a HOXB gene cluster deletion involving only HOXB1 to HOXB9 genes. By comparing our case to previously reported five patients with larger chromosomal aberrations involving the HOXB gene cluster, we can suppose that HOXB gene cluster deletions are responsible for growth retardation, developmental delay, and specific facial dysmorphic features. Also, we suppose that bilateral inguinal hernias, tracheo-esophageal abnormalities, and lung malformations represent features with incomplete penetrance. Interestingly, previously published knock-out mice with targeted heterozygous deletion comparable to our patient did not show phenotypic alterations. PMID:25907420

  18. 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.

  19. 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…

  20. 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…

  1. Families' Resources and Accommodations: Toddlers with Down Syndrome, Cerebral Palsy, and Developmental Delay

    ERIC Educational Resources Information Center

    Diamond, Karen E.; Kontos, Susan

    2004-01-01

    Constructing and maintaining a supportable daily routine is an important task for families with young children, particularly when the child has a disability. In this study, we examined relationships between children's developmental needs, disability diagnosis, and families' resources and accommodations. Participants included families with infants…

  2. Parenting Stress and Psychological Functioning among Mothers of Preschool Children with Autism and Developmental Delay

    ERIC Educational Resources Information Center

    Estes, Annette; Munson, Jeffrey; Dawson, Geraldine; Koehler, Elizabeth; Zhou, Xiao-Hua; Abbott, Robert

    2009-01-01

    Parents of children with developmental disabilities, particularly autism spectrum disorders (ASDs), are at risk for high levels of distress. The factors contributing to this are unclear. This study investigated how child characteristics influence maternal parenting stress and psychological distress. Participants consisted of mothers and…

  3. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

    PubMed

    Boyle, Lia; Wamelink, Mirjam M C; Salomons, Gajja S; Roos, Birthe; Pop, Ana; Dauber, Andrew; Hwa, Vivian; Andrew, Melissa; Douglas, Jessica; Feingold, Murray; Kramer, Nancy; Saitta, Sulagna; Retterer, Kyle; Cho, Megan T; Begtrup, Amber; Monaghan, Kristin G; Wynn, Julia; Chung, Wendy K

    2016-06-01

    Whole-exome sequencing (WES) is increasingly being utilized to diagnose individuals with undiagnosed disorders. Developmental delay and short stature are common clinical indications for WES. We performed WES in three families, using proband-parent trios and two additional affected siblings. We identified a syndrome due to an autosomal-recessively inherited deficiency of transketolase, encoded by TKT, on chromosome 3p21. Our series includes three families with a total of five affected individuals, ranging in age from 4 to 25 years. Two families of Ashkenazi Jewish ancestry were homozygous for an 18 base pair in-frame insertion in TKT. The third family was compound heterozygous for nonsense and missense variants in TKT. All affected individuals had short stature and were developmentally delayed. Congenital heart defects were noted in four of the five affected individuals, and there was a history of chronic diarrhea and cataracts in the older individuals with the homozygous 18 base pair insertion. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth. NADPH is also critical for maintaining cerebral glutathione, which might contribute to the neurodevelopmental delays. Transketolase deficiency is one of a growing list of inborn errors of metabolism in the non-oxidative part of the pentose phosphate pathway. PMID:27259054

  4. Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.

    PubMed

    Nimmo, Graeme A M; Guerin, Andrea; Badilla-Porras, Ramses; Stavropoulos, Dimitri J; Yoon, Grace; Carter, Melissa T

    2016-03-01

    The 16p12 region is particularly prone to genomic disorders due to the large number of low copy repeats [Martin et al., 2004; Nature 432:988-994]. We report two unrelated patients with de novo triplication of 16p12.1p12.3 who had developmental delay and similar facial features. Patient 1 is a 4-year-old male with a congenital heart anomaly, bilateral cryptorchidism, chronic constipation, and developmental delay. Patient 2 is a 12-year-old female with prenatally diagnosed hydronephrosis, hepatobiliary disease, failure to thrive, and developmental delay. Distinctive facial features common to both patients include short palpebral fissures, bulbous nose, thin upper vermillion border, apparently lowset ears, and large ear lobes. We compare the clinical manifestations of our patients with a previously reported patient with triplication of 16p12.2. © 2015 Wiley Periodicals, Inc. PMID:26647099

  5. Parental Accounts of Home-Based Literacy Processes: Contexts for Infants and Toddlers with Developmental Delays

    ERIC Educational Resources Information Center

    Goin, Robin P.; Nordquist, Vey M.; Twardosz, Sandra

    2004-01-01

    The early childhood years are critical for literacy development, and there is evidence that the home environments of young children with delays or disabilities are not as rich in literacy opportunities as those of their typically developing peers. The purpose of this study was to obtain information about how parents of infants and toddlers with…

  6. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: a case report.

    PubMed

    Tos, T; Alp, M Y; Karacan, C D; Andiran, N; Colakoglu, E Y

    2014-01-01

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial deletion of 9q associated with q32-q34 is found extremely rare. Common features of seven previously reported cases are mental retardation, developmental delay, short stature, a distinct cranial and facial phenotype (brachycephaly, low midface, low and prominent forehead, and low set malformed ears). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before. PMID:25059019

  7. Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.

    PubMed

    Smyk, Marta; Poluha, Anna; Jaszczuk, Ilona; Bartnik, Magdalena; Bernaciak, Joanna; Nowakowska, Beata

    2016-05-01

    Neurodevelopmental disorders have long been associated with chromosomal abnormalities, including microdeletions and microduplications. Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developmental delay (DD)/intellectual disability (ID) or autism spectrum disorders (ASDs) and/or macrocephaly. Recently, disruptive CHD8 mutations were described in patients with similar phenotypes further showing pivotal role of CHD8 gene in the pathogenesis of DD/ID or ASDs. We report here the first case of ∼445 kb de novo microduplication, encompassing the minimal critical 14q11.2 deletion region, in 8-year-old boy showing DD, cognitive impairment and facial dysmorphism. Our results suggest that gain of the chromosomal region 14q11.2 is causative for clinical findings present in the patient. © 2016 Wiley Periodicals, Inc. PMID:26834018

  8. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

    PubMed Central

    Whibley, Annabel; Urquhart, Jill; Dore, Jonathan; Willatt, Lionel; Parkin, Georgina; Gaunt, Lorraine; Black, Graeme; Donnai, Dian; Raymond, F Lucy

    2010-01-01

    Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3–p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypotonia and stereotypical hand movements. The clinical features accord with published reports of larger microdeletions and selective MAO-A and MAO-B deficiencies in humans and mouse models and suggest considerable functional compensation between MAO-A and MAO-B under normal conditions. PMID:20485326

  9. 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.

  10. 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

  11. Cilostazol Improves Developmental Competence of Pig Oocytes by Increasing Intraoocyte Cyclic Adenosine Monophosphate Level and Delaying Meiotic Resumption.

    PubMed

    Elahi, F; Lee, H; Lee, Y; Park, B; Lee, J; Hyun, S-H; Lee, E

    2016-04-01

    Cilostazol (CLZ) is a cyclic adenosine monophosphate (cAMP) modulator that influences the steady state of the meiotic stage. This study was conducted to determine the effects of CLZ treatment during in vitro maturation (IVM) on developmental competence of pig oocytes. Immature oocytes were exposed to 0 (control), 0.5, 2 and 4 μm CLZ during the first 22 h of IVM. Nuclear maturation, intraoocyte glutathione content and embryo cleavage after parthenogenesis (PA) and somatic cell nuclear transfer (SCNT) were not influenced by CLZ at any concentrations. However, 4 μm CLZ significantly (p < 0.05) improved blastocyst formation after PA (52.1% vs 38.7-46.0%) and SCNT relative to other concentrations (40.8% vs 25.0-30.7%). The mean cell numbers of SCNT blastocysts were significantly increased by 4 μm CLZ compared to the control (42.6 cells vs 35.3 cells/blastocyst). CLZ treatment significantly increased the intraoocyte cAMP level and effectively arrested oocytes at the germinal vesicle (GV) and GV break down stages compared to the control (74.5% vs 45.4%). Our results demonstrated that improved developmental competence of PA and SCNT pig embryos occurred via better synchronization of nuclear and cytoplasmic maturation induced by increased cAMP and delayed meiotic resumption after CLZ treatment. PMID:26834044

  12. 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

  13. 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

  14. 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

  15. Percent Infarct Mapping for Delayed Contrast Enhancement MR Imaging to Quantify Myocardial Viability by Gd(DTPA)

    PubMed Central

    Simor, Tamás; Surányi, Pál; Ruzsics, Balázs; Tóth, Attila; Tóth, Levente; Kiss, Pál; Brott, Brigitta C.; Varga-Szemes, Ákos; Elgavish, Ada; Elgavish, Gabriel A.

    2010-01-01

    Purpose To demonstrate the advantages of Signal Intensity Percent-Infarct-Mapping (SI-PIM) using the standard delayed enhancement (DE) acquisition in assessing viability following myocardial infarction (MI). SI-PIM quantifies MI density with a voxel-by-voxel resolution in clinically used DE images. Materials and Methods In canines (n=6), 96h after reperfused MI and administration of 0.2mmol/kg Gd(DTPA), ex-vivo DE images were acquired and SI-PIMs calculated. SI-PIM data were compared with data from DE images analyzed with several thresholding levels using SIremote+2SD, SIremote+6SD, SI full width half maximum (SIFWHM), and with triphenyl-tetrazolium-chloride (TTC) staining. SI-PIM was also compared to R1 percent infarct mapping (R1-PIM). Results Left ventricular infarct volumes (IV) in DE images, IVSIremote+2SD and IVSIremote+6SD overestimated (p<0.05) TTC by medians of 13.21ml [10.2; 15.2] and 6.2ml [3.79; 8.23], respectively. SIFWHM, SI-PIM and R1-PIM, however, only non-significantly underestimated TTC, by medians of −0.10ml [−0.12, −0.06], −0.86ml [−1.04; 1.54] and −1.30ml [−4.99; −0.29], respectively. The Infarct-Involved Voxel Volume (IIVV) of SI-PIM, 32.4ml [21.2, 46.3] is higher (p<0.01) than IIVVs of SIFWHM 8.3ml [3.79, 19.0]. SI-PIMFWHM, however, underestimates TTC (−5.74ml [−11.89; −2.52] (p<0.01)). Thus SI-PIM outperforms SIFWHM because larger IIVVs are obtained, and thus PIs both in the rim and the core of the infarcted tissue are characterized, in contradistinction from DE-SIFWHM which shows mainly the infarct core. Conclusion We have shown here, ex vivo, that SI-PIM has the same advantages as R1-PIM, but it is based on the scanning sequences of DE imaging, and thus it is obtainable within the same short scanning time as DE. This makes it a practical method for clinical studies. PMID:20882616

  16. 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…

  17. 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…

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

    ERIC Educational Resources Information Center

    Favez, Nicolas; Metral, Eric; Govaerts, Patrice

    2008-01-01

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

  19. Assessing the Effects of the "McGraw Hill Phonemic Awareness" Program with Preschool Children with Developmental Delays: A Case Study

    ERIC Educational Resources Information Center

    Isakson, Lisa; Marchand-Martella, Nancy; Martella, Ronald C.

    2011-01-01

    This study assessed the effects of "McGraw Hill Phonemic Awareness" on the phonemic awareness skills of 5 preschool children with developmental delays. The children received 60 of the 110 lessons included in this program over 5 months. They were pre- and posttested using the kindergarten level Initial Sound Fluency and Phoneme Segmentation Fluency…

  20. 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…

  1. 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;…

  2. 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.…

  3. Salivary Alpha Amylase and Cortisol Levels in Children with Global Developmental Delay and Their Relation with the Expectation of Dental Care and Behavior during the Intervention

    ERIC Educational Resources Information Center

    dos Santos, Marcio Jose Possari; Bernabe, Daniel Galera; Nakamune, Ana Claudia de Melo Stevanato; Perri, Silvia Helena Venturoli; de Aguiar, Sandra Maria Herondina Coelho Avila; de Oliveira, Sandra Helena Penha

    2012-01-01

    The purpose of this study was to analyze the alpha-amylase (sAA) and cortisol levels in children with Global developmental delay (GDD) before and after dental treatment and its association with the children's behavior during treatment. The morning salivary cortisol levels and activity of sAA of 33 children with GDD were evaluated before and after…

  4. 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

  5. The Effects of Fading, Modeling, Prompting, and Direct Instruction on Letter Legibility for Two Preschool Students with Physical and Developmental Delays

    ERIC Educational Resources Information Center

    Parks, Christine; Weber, Kimberly P.; McLaughlin, T. F.

    2007-01-01

    The purpose of this study was to determine the effectiveness of the model, lead, and test procedure, as well as a fading procedure with prompts and Direct Instruction with two preschool developmentally delayed students. These procedures were implemented to teach a class of preschoolers to write their names in preparation for their kindergarten…

  6. 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…

  7. The Effects of Constant Time Delay Embedded into Teaching Activities for Teaching the Names of Clothes for Preschool Children with Developmental Disabilities

    ERIC Educational Resources Information Center

    Odluyurt, Serhat

    2011-01-01

    The general purpose of this study was to examine the effectiveness of constant time delay embedded in activities for teaching clothes name for preschool children with developmental disabilities. This study included four participants having Down syndrome with an age range of 43-46 months. All experimental sessions were conducted in one to one…

  8. 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

  9. 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

  10. 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

  11. A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

    PubMed

    Puffenberger, Erik G; Jinks, Robert N; Wang, Heng; Xin, Baozhong; Fiorentini, Christopher; Sherman, Eric A; Degrazio, Dominick; Shaw, Calvin; Sougnez, Carrie; Cibulskis, Kristian; Gabriel, Stacey; Kelley, Richard I; Morton, D Holmes; Strauss, Kevin A

    2012-12-01

    We studied a unique phenotype of cognitive delay, autistic behavior, and gait instability segregating in three separate sibships. We initiated genome-wide mapping in two sibships using Affymetrix 10K SNP Mapping Arrays and identified a homozygous 8.2 Mb region on chromosome 15 common to five affected children. We used exome sequencing of two affected children to assess coding sequence variants within the mapped interval. Four novel homozygous exome variants were shared between the two patients; however, only two variants localized to the mapped interval on chromosome 15. A third sibship in an Ohio Amish deme narrowed the mapped interval to 2.6 Mb and excluded one of the two novel homozygous exome variants. The remaining variant, a missense change in HERC2 (c.1781C>T, p.Pro594Leu), occurs in a highly conserved proline residue within an RCC1-like functional domain. Functional studies of truncated HERC2 in adherent retinal pigment epithelium cells suggest that the p.Pro594Leu variant induces protein aggregation and leads to decreased HERC2 abundance. The phenotypic correlation with the mouse Herc1 and Herc2 mutants as well as the phenotypic overlap with Angelman syndrome provide further evidence that pathogenic changes in HERC2 are associated with nonsyndromic intellectual disability, autism, and gait disturbance. Hum Mutat 33:1639-1646, 2012. © 2012 Wiley Periodicals, Inc. PMID:23065719

  12. 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.

  13. 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

  14. 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

  15. Change in prevalence status for children with developmental delay in Taiwan: a nationwide population-based retrospective study

    PubMed Central

    Kuo, Huang-Tsung; Muo, Chih-Hsin; Chang, Yu-Tzu; Lin, Chin-Kai

    2015-01-01

    The purpose of this study was to estimate the prevalence of children aged 0–6 years with developmental delay (DD) and to examine age-period trends in the prevalence of DD diagnosis in Taiwan. For the study population, we selected children aged <6 years at baseline (in 1997–2002, N=2,308,790) from the National Health Insurance Research Database (a longitudinal database with annual medical records of children in Taiwan) to estimate the prevalence of DD. All study subjects were followed up until they were 5 years old; the study period was from 1997 to 2008. The prevalence of DD by year gradually increased from 0.16% to 3.25% from 1997 to 2008 with an increasing ratio of prevalence of 20% over the 12-year study period. The prevalence of DD in boys was 2.13 times (2.09–2.18 from 1997 to 2008) that in girls. The prevalence of DD increased by year of study. The effect of sex on the prevalence of DD was significant. Understanding the trend of prevalence in the study period and the gap between the rate of early treatment and DD prevalence are critical concerns for future research. PMID:26203248

  16. 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

  17. Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.

    PubMed

    Ji, Taoyun; Wu, Ye; Wang, Huifang; Wang, Jingmin; Jiang, Yuwu

    2010-08-01

    Jacobsen syndrome (JBS) is a haploinsufficiency syndrome caused by partial deletion of the long arm of chromosome 11. It is characterized by developmental delay (DD)/mental retardation (MR), physical growth retardation, facial dysmorphism, visceral malformations and thrombocytopenia. We report two JBS patients from China out of a total of 451 patients with unexplained DD/MR. The genotypes of these patients were compared with earlier reported patients in North America and Europe. Both patients presented with severe DD, microcephaly and facial dysmorphism; one patient had a low birth weight, congenital heart disease and structural brain abnormalities. Neither patient was thrombocytopenic at the time of diagnosis. The two deletions were 4.1 and 12.8 Mb. The 4.1 Mb deletion is the smallest of all pathogenic regions earlier reported in JBS. Therefore, the critical region underlying DD/MR might be located in the distal portion of the chromosomal segment within 4.1 Mb of the telomere. Candidate genes for DD/MR in this region include SNX19, THYN1, OPCML, NCAPD3 and NTM. One of the critical regions for craniofacial abnormalities may be within 130.3-134.4 Mb in chromosome 11q. Further analysis of Chinese JBS patients would elucidate the relation of phenotype to genotype further. PMID:20520618

  18. 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

  19. Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.

    PubMed

    Al-Amri, Ahmed; Saegh, Abeer Al; Al-Mamari, Watfa; El-Asrag, Mohammed E; Ivorra, Jose L; Cardno, Alastair G; Inglehearn, Chris F; Clapcote, Steven J; Ali, Manir

    2016-07-01

    Intellectual disability (ID) is the term used to describe a diverse group of neurological conditions with congenital or juvenile onset, characterized by an IQ score of less than 70 and difficulties associated with limitations in cognitive function and adaptive behavior. The condition can be inherited or caused by environmental factors. The genetic forms are heterogeneous, with mutations in over 500 known genes shown to cause the disorder. We report a consanguineous Omani family in which multiple individuals have ID and developmental delay together with some variably present features including short stature, microcephaly, moderate facial dysmorphism, and congenital malformations of the toes or hands. Homozygosity mapping combined with whole exome next generation sequencing identified a novel homozygous single base pair deletion in TUSC3, c.222delA, p.R74 fs. The mutation segregates with the disease phenotype in a recessive manner and is absent in 60,706 unrelated individuals from various disease-specific and population genetic studies. TUSC3 mutations have been previously identified as causing either syndromic or non-syndromic ID in patients from France, Italy, Iran and Pakistan. This paper supports the previous clinical descriptions of the condition caused by TUSC3 mutations and describes the seventh family with mutations in this gene, thus contributing to the genetic spectrum of mutations. This is the first report of a family from the Arabian peninsula with this form of ID. © 2016 Wiley Periodicals, Inc. PMID:27148795

  20. The developmental inter-relationships between activity, novelty preferences, and delay discounting in male and female rats.

    PubMed

    Lukkes, Jodi L; Thompson, Britta S; Freund, Nadja; Andersen, Susan L

    2016-03-01

    Increased locomotion, novelty-seeking, and impulsivity are risk factors associated with substance use. In this study, the inter-relationships between activity, novelty preferences, and delay discounting, a measure of impulsivity, were examined across three stages: juvenile/early adolescence (postnatal Day [P] 15, 19, and 42 for activity, novelty, and impulsivity, respectively), adolescent/late adolescent (P28, 32, 73), and adult (P90, 94, 137) in male and female rats. Our estimates of impulsive choice, where animals were trained to criterion, revealed an age × sex interaction where early adolescent females had the lowest levels of impulsivity. The relationships of activity and novelty to impulsivity significantly changed across age within each sex. Early adolescent males with high activity, but low novelty preferences, were more impulsive; however, low activity and high novelty preferences were related to high impulsivity in adult males. Female activity gradually increased across age, but did not show a strong relationship with impulsivity. Novelty preferences are moderately related to impulsivity into adulthood in females. These data show that males and females have different developmental trajectories for these behaviors. Males show greater sensation-seeking (e.g., activity) and risky behavior (e.g., novelty preferences) earlier in life, whereas these behaviors emerge during adolescence in females. PMID:26419783

  1. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.

    PubMed

    Gawrych, Elzbieta; Bińczak-Kuleta, Agnieszka; Janiszewska-Olszowska, Joanna; Ciechanowicz, Andrzej

    2013-01-01

    Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) results from a simultaneous developmental abnor-caused by mutations of the tp63 gene. Five mutations: 204, 227, 279, 280, and 304 account for most cases of this syndrome. A case with R304W mutation, characterized by the presence of all major (ectrodactyly, ectodermal dysplasia, cleft lip and palate) and two minor (lacrimal duct obstruction, developmental delay) clinical symptoms of the syndrome is presented. This severe case improves the existing knowledge concerning the genotype-phenotype correlations in EEC syndrome. PMID:24734328

  2. 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…

  3. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

    PubMed

    Vanlerberghe, Clémence; Petit, Florence; Malan, Valérie; Vincent-Delorme, Catherine; Bouquillon, Sonia; Boute, Odile; Holder-Espinasse, Muriel; Delobel, Bruno; Duban, Bénédicte; Vallee, Louis; Cuisset, Jean-Marie; Lemaitre, Marie-Pierre; Vantyghem, Marie-Christine; Pigeyre, Marie; Lanco-Dosen, Sandrine; Plessis, Ghislaine; Gerard, Marion; Decamp, Matthieu; Mathieu, Michèle; Morin, Gilles; Jedraszak, Guillaume; Bilan, Frédéric; Gilbert-Dussardier, Brigitte; Fauvert, Delphine; Roume, Joëlle; Cormier-Daire, Valérie; Caumes, Roseline; Puechberty, Jacques; Genevieve, David; Sarda, Pierre; Pinson, Lucie; Blanchet, Patricia; Lemeur, Nathalie; Sheth, Frenny; Manouvrier-Hanu, Sylvie; Andrieux, Joris

    2015-03-01

    Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated with developmental delay and atypical psychological patterns. This region contains four highly-conserved and non-imprinted genes: NIPA1, NIPA2, CYFIP1, TUBGCP5. Our goal was to investigate the phenotypes associated with this microdeletion in a cohort of 52 patients. This copy number variation (CNV) was prevalent in 0.8% patients presenting with developmental delay, psychological pattern issues and/or multiple congenital malformations. This was studied by array-CGH at six different French Genetic laboratories. We collected data from 52 unrelated patients (including 3 foetuses) after excluding patients with an associated genetic alteration (known CNV, aneuploidy or known monogenic disease). Out of 52 patients, mild or moderate developmental delay was observed in 68.3%, 85.4% had speech impairment and 63.4% had psychological issues such as Attention Deficit and Hyperactivity Disorder, Autistic Spectrum Disorder or Obsessive-Compulsive Disorder. Seizures were noted in 18.7% patients and associated congenital heart disease in 17.3%. Parents were analysed for abnormalities in the region in 65.4% families. Amongst these families, 'de novo' microdeletions were observed in 18.8% and 81.2% were inherited from one of the parents. Incomplete penetrance and variable expressivity were observed amongst the patients. Our results support the hypothesis that 15q11.2 (BP1-BP2) microdeletion is associated with developmental delay, abnormal behaviour, generalized epilepsy and congenital heart disease. The later feature has been rarely described. Incomplete penetrance and variability of expression demands further assessment and studies. PMID:25596525

  4. 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

  5. A Comparison of Receptive-Expressive Language Profiles between Toddlers with Autism Spectrum Disorder and Developmental Language Delay

    PubMed Central

    Seol, Kyeong In; Song, Seung Ha; Kim, Ka Lim; Oh, Seung Taek; Kim, Young Tae; Im, Woo Young; Song, Dong Ho

    2014-01-01

    Purpose It is well known that expressive language impairment is commonly less severe than receptive language impairment in children with autism spectrum disorder (ASD). However, this result is based on experiments in Western countries with Western language scales. This study tries to find whether the result above is applicable for toddlers in a non-Western country; more specifically, in Korea with non-Western language scales. Materials and Methods The participants were 166 toddlers aged between 20 months and 50 months who visited the clinic from December 2010 to January 2013. The number of toddlers diagnosed as ASD and developmental language delay (DLD) was 103 and 63, respectively. Language development level was assessed using Sequenced Language Scale for Infants (SELSI), a Korean language scale. Using SELSI, each group was divided into 3 sub-groups. Moreover, the group difference by age was observed by dividing them into three age groups. Chi-square test and linear-by-linear association was used for analysis. Results Receptive language ability of the DLD group was superior to that of the ASD group in all age groups. However, expressive language ability in both groups showed no difference in all age groups. A greater proportion of expressive dominant type was found in ASD. The 20-29 months group in ASD showed the largest proportion of expressive language dominant type in the three age groups, suggesting that the younger the ASD toddler is, the more severe the receptive language impairment is. Conclusion These findings suggest that receptive-expressive language characteristics in ASD at earlier age could be useful in the early detection of ASD. PMID:25323912

  6. 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

  7. Vision screening in children with developmental delay can be improved: analysis of a screening programme outside the ophthalmic clinic.

    PubMed

    Nielsen, Lisbeth Sandfeld; Skov, Liselotte; Jensen, Hanne

    2007-07-01

    The purpose of the present study was to evaluate the effectiveness of a new vision-screening programme in detecting ophthalmic disorders in children with developmental delay (DD; IQ< or =80) and in children with normal IQ. A group of 467 children with an IQ< or =80 (272 males, 195 females; age range 4-15y; mean age 10y 4mo [SD 2y 10mo]) and 123 children with an IQ>80 (85 males, 38 females; age range 3-16y; mean age 10y 5mo [SD 3y 2mo]) had an examination that included new vision-screening items: distance and near visual acuity and stereopsis for near objects (Lang stereo test II). A full ophthalmological examination was also conducted to determine the effectiveness of the new screening items. The previous screening programme consisted of only monocular visual acuity at distance. Sensitivity, specificity, the positive predictive value (PPV), and negative predictive value (NPV) of the tests were calculated with regard to the following ophthalmic disorders: hyperopia, myopia, astigmatism, anistometropia, amblyopia, low vision, and strabismus. Overall, the prevalence of ophthalmic disorders was 33.4% in children with DD and 11.4% in typically developing children. With the use of the new programme, the effectiveness of vision screening in both groups of children was improved. In children with DD, sensitivity increased from 49.4 to 80.1%, specificity decreased from 98.1 to 83.3%, PPV decreased from 92.8 to 70.6%, and NPV increased from 79.4 to 89.3%. In typically developing children, sensitivity improved from 50.0 to 85.7%, specificity declined from 98.2 to 87.2%, PPV decreased from 77.8 to 46.2%, and NPV increased from 93.9 to 97.9%. We conclude that the currently used vision-screening programme can be significantly improved. The speed and simplicity of the proposed screening programme makes it suitable for use by school nurses. The improvements were most prominent in children with DD. PMID:17593122

  8. De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

    PubMed Central

    Arboleda, Valerie A.; Lee, Hane; Dorrani, Naghmeh; Zadeh, Neda; Willis, Mary; Macmurdo, Colleen Forsyth; Manning, Melanie A.; Kwan, Andrea; Hudgins, Louanne; Barthelemy, Florian; Miceli, M. Carrie; Quintero-Rivera, Fabiola; Kantarci, Sibel; Strom, Samuel P.; Deignan, Joshua L.; Grody, Wayne W.; Vilain, Eric; Nelson, Stanley F.

    2015-01-01

    Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase (HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell differentiation, metabolism, and apoptosis. Nonsense mutations in genes that are involved in histone acetylation and deacetylation result in multiple congenital anomalies with most individuals displaying significant developmental delay, microcephaly and dysmorphism. Here, we report a syndrome caused by de novo heterozygous nonsense mutations in KAT6A (a.k.a., MOZ, MYST3) identified by clinical exome sequencing (CES) in four independent families. The same de novo nonsense mutation (c.3385C>T [p.Arg1129∗]) was observed in three individuals, and the fourth individual had a nearby de novo nonsense mutation (c.3070C>T [p.Arg1024∗]). Neither of these variants was present in 1,815 in-house exomes or in public databases. Common features among all four probands include primary microcephaly, global developmental delay including profound speech delay, and craniofacial dysmorphism, as well as more varied features such as feeding difficulties, cardiac defects, and ocular anomalies. We further demonstrate that KAT6A mutations result in dysregulation of H3K9 and H3K18 acetylation and altered P53 signaling. Through histone and non-histone acetylation, KAT6A affects multiple cellular processes and illustrates the complex role of acetylation in regulating development and disease. PMID:25728775

  9. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

    PubMed

    Arboleda, Valerie A; Lee, Hane; Dorrani, Naghmeh; Zadeh, Neda; Willis, Mary; Macmurdo, Colleen Forsyth; Manning, Melanie A; Kwan, Andrea; Hudgins, Louanne; Barthelemy, Florian; Miceli, M Carrie; Quintero-Rivera, Fabiola; Kantarci, Sibel; Strom, Samuel P; Deignan, Joshua L; Grody, Wayne W; Vilain, Eric; Nelson, Stanley F

    2015-03-01

    Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase (HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell differentiation, metabolism, and apoptosis. Nonsense mutations in genes that are involved in histone acetylation and deacetylation result in multiple congenital anomalies with most individuals displaying significant developmental delay, microcephaly and dysmorphism. Here, we report a syndrome caused by de novo heterozygous nonsense mutations in KAT6A (a.k.a., MOZ, MYST3) identified by clinical exome sequencing (CES) in four independent families. The same de novo nonsense mutation (c.3385C>T [p.Arg1129∗]) was observed in three individuals, and the fourth individual had a nearby de novo nonsense mutation (c.3070C>T [p.Arg1024∗]). Neither of these variants was present in 1,815 in-house exomes or in public databases. Common features among all four probands include primary microcephaly, global developmental delay including profound speech delay, and craniofacial dysmorphism, as well as more varied features such as feeding difficulties, cardiac defects, and ocular anomalies. We further demonstrate that KAT6A mutations result in dysregulation of H3K9 and H3K18 acetylation and altered P53 signaling. Through histone and non-histone acetylation, KAT6A affects multiple cellular processes and illustrates the complex role of acetylation in regulating development and disease. PMID:25728775

  10. De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

    PubMed Central

    Carter, Jennifer; Zombor, Melinda; Máté, Adrienn; Sztriha, László; Waters, Jonathan J.

    2016-01-01

    A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development. This is consistent with previously reported duplications of this region in patients with a similar phenotype. PMID:26955491

  11. De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.

    PubMed

    Carter, Jennifer; Zombor, Melinda; Máté, Adrienn; Sztriha, László; Waters, Jonathan J

    2016-01-01

    A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development. This is consistent with previously reported duplications of this region in patients with a similar phenotype. PMID:26955491

  12. 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

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

    PubMed

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

    2015-12-01

    Infection with helminth parasites causes morbidity and mortality in billions of people and livestock worldwide. Where anthelmintic drugs are available, drug resistance is a major problem in livestock parasites, and a looming threat to public health. Monitoring the efficacy of these medicines and screening for new drugs has been hindered by the lack of objective, high-throughput approaches. Several cell monitoring technologies have been adapted for parasitic worms, including video-, fluorescence-, metabolism enzyme- and impedance-based tools that minimize the screening bottleneck. Using the xCELLigence impedance-based system we previously developed a motility-viability assay that is applicable for a range of helminth parasites. Here we have improved substantially the assay by using diverse frequency settings, and have named it the xCELLigence worm real-time motility assay (xWORM). By utilizing strictly standardized mean difference analysis we compared the xWORM output measured with 10, 25 and 50 kHz frequencies to quantify the motility of schistosome adults (human blood flukes) and hatching of schistosome eggs. Furthermore, we have described a novel application of xWORM to monitor movement of schistosome cercariae, the developmental stage that is infectious to humans. For all three stages, 25 kHz was either optimal or near-optimal for monitoring and quantifying schistosome motility. These improvements in methodology sensitivity should enhance the capacity to screen small compound libraries for new drugs both for schistosomes and other helminth pathogens at large. PMID:26288742

  14. 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)

  15. 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

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

    PubMed

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

    2016-02-01

    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

  17. 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

    PubMed

    Noor, Abdul; Dupuis, Lucie; Mittal, Kirti; Lionel, Anath C; Marshall, Christian R; Scherer, Stephen W; Stockley, Tracy; Vincent, John B; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J

    2015-07-01

    Duplications of chromosome region 15q11-q13 with the maternal imprint are associated with a wide spectrum of neuropsychiatric disorders, including autism spectrum disorders, developmental delay, learning difficulties, schizophrenia, and seizures. These observations suggest there is a dosage-sensitive imprinted gene or genes within this region that explains the increased risk for neuropsychiatric phenotypes. We present a female patient with developmental delay in whom we identified a maternally inherited 129-Kb duplication in chromosome region 15q11.2 encompassing only the UBE3A gene. Expression analysis in cultured fibroblasts confirmed overexpression of UBE3A in the proband, compared with age- and sex-matched controls. We further tested segregation of this duplication in four generations and found it segregated with neuropsychiatric phenotypes. Our study shows for the first time clinical features associated with overexpression of UBE3A in humans and underscores the significance of this gene in the phenotype of individuals with 15q11-q13 duplication. PMID:25884337

  18. 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

  19. The Parental Concerns Questionnaire: A Brief Screening Instrument for Potentially Severe Behavior Problems in Infants and Toddlers At-Risk for Developmental Delays

    PubMed Central

    Rojahn, Johannes; An, Xiaozhu; Mayo-Ortega, Liliana; Oyama-Ganiko, Rosao; LeBlanc, Judith

    2013-01-01

    The Parental Concerns Questionnaire (PCQ) was designed as a parent-interview screening instrument for young children with developmental concerns at risk for potentially severe behavior problems (SBDs). Parents of 262 young children (4 to 48 months) answered to the 15 dichotomous PCQ items interviewed by trained staff. Cluster analysis for items revealed three item clusters, which we labeled Developmental/Social (8 items), Biomedical (3 items), and Behavior Problems (3 items). This paper discussed primarily the Behavior Problems cluster, with items referring to self-injurious, aggressive, and destructive behaviors. Parents' concerns about behavior problems were high, with item-endorsements of the Behavior Problems cluster ranging from 41.8 % to 68.8 %. The Behavior Problems cluster was significantly correlated with all three subscales of the Behavior Problems Inventory (BPI-01), with select subscales of the Aberrant Behavior Checklist (ABC), and with the Repetitive Behavior Scale-Revised (RBS-R) providing some evidence for concurrent validity. Sensitivity and specificity data were computed for the three PCQ items as well as for the cluster score in comparison with the BPI-01, ABC, and RBS-R showing strong sensitivity. The PCQ Behavior Problems cluster is a useful screening checklist with high sensitivity for potential SBDs in young children at-risk for developmental delays. PMID:24659900

  20. Early Intervention Approaches to Enhance the Peer-Related Social Competence of Young Children With Developmental Delays

    PubMed Central

    Guralnick, Michael J.

    2010-01-01

    This article presents a framework for future research and program development designed to support children’s peer-related social competence. Intervention research is examined within a historical perspective culminating with a discussion of contemporary translational approaches capable of integrating models of normative development, developmental models of risk and disability, and intervention science. PMID:20526420

  1. 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…

  2. Adapting Webster-Stratton's Incredible Years Parent Training for Children with Developmental Delay: Findings from a Treatment Group Only Study

    ERIC Educational Resources Information Center

    McIntyre, L. L.

    2008-01-01

    Background: Children with intellectual or developmental disabilities (ID/DD) are more likely than typically developing children to experience behaviour problems. Parent training, such as the Incredible Years Parent Training (IYPT) series, has been a widely used intervention to support families with children with or at-risk for behaviour problems;…

  3. 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…

  4. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.

    PubMed

    Balemans, Monique C M; Ansar, Muhammad; Oudakker, Astrid R; van Caam, Arjan P M; Bakker, Brenda; Vitters, Elly L; van der Kraan, Peter M; de Bruijn, Diederik R H; Janssen, Sanne M; Kuipers, Arthur J; Huibers, Manon M H; Maliepaard, Eliza M; Walboomers, X Frank; Benevento, Marco; Nadif Kasri, Nael; Kleefstra, Tjitske; Zhou, Huiqing; Van der Zee, Catharina E E M; van Bokhoven, Hans

    2014-02-15

    Haploinsufficiency of Euchromatin histone methyltransferase 1 (EHMT1), a chromatin modifying enzyme, is the cause of Kleefstra syndrome (KS). KS is an intellectual disability (ID) syndrome, with general developmental delay, hypotonia, and craniofacial dysmorphisms as additional core features. Recent studies have been focused on the role of EHMT1 in learning and memory, linked to the ID phenotype of KS patients. In this study we used the Ehmt1(+/-) mouse model, and investigated whether the core features of KS were mimicked in these mice. When comparing Ehmt1(+/-) mice to wildtype littermates we observed delayed postnatal growth, eye opening, ear opening, and upper incisor eruption, indicating a delayed postnatal development. Furthermore, tests for muscular strength and motor coordination showed features of hypotonia in young Ehmt1(+/-) mice. Lastly, we found that Ehmt1(+/-) mice showed brachycephalic crania, a shorter or bent nose, and hypertelorism, reminiscent of the craniofacial dysmorphisms seen in KS. In addition, gene expression analysis revealed a significant upregulation of the mRNA levels of Runx2 and several other bone tissue related genes in P28 Ehmt1(+/-) mice. Runx2 immunostaining also appeared to be increased. The mRNA upregulation was associated with decreased histone H3 lysine 9 dimethylation (H3K9me2) levels, the epigenetic mark deposited by Ehmt1, in the promoter region of these genes. Together, Ehmt1(+/-) mice indeed recapitulate KS core features and can be used as an animal model for Kleefstra syndrome. The increased expression of bone developmental genes in the Ehmt1(+/-) mice likely contributes to their cranial dysmorphisms and might be explained by diminished Ehmt1-induced H3K9 dimethylation. PMID:24362066

  5. 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

  6. Nosema pyrausta and Cry1Ab-incorporated Diet Led to Decreased Survival and Developmental Delays in European Corn Borer

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The high dose/refuge strategy for delaying evolution of resistance to Bacillus thuringiensis (Bt) corn relies on random mating between heterozygous-resistant European corn borers, Ostrinia nubilalis (Hubner) (Lepidoptera: Crambidae), and susceptible O. nubilalis from the refuge. However, difference...

  7. Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

    PubMed Central

    Nagamani, Sandesh Chakravarthy Sreenath; Erez, Ayelet; Eng, Christine; Ou, Zhishuo; Chinault, Craig; Workman, Laura; Coldwell, James; Stankiewicz, Pawel; Patel, Ankita; Lupski, James R; Cheung, Sau Wai

    2009-01-01

    Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. We determined the size, extent and genomic content of the deletions using high-density array-comparative genomic hybridization (a-CGH), and found that a common segment spanning 3.52 Mb within the 6q25.2–q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing. PMID:19034313

  8. Inherited duplication of the short arm of chromosome 18p11.32-p11.31 associated with developmental delay/intellectual disability.

    PubMed

    Balasubramanian, Meena; Sithambaram, Sivagamy; Smith, Kath

    2016-01-01

    Duplications of 18p have been reported in the literature associated with a range of different abnormalities and also in patients with normal phenotypes. The majority of these reports are based solely on G-banded cytogenetic evaluation. The use of arrayCGH characterization has improved the ability to define regions of imbalance and is helping to identify potential underlying triplosufficiency of any duplicated genes. We report on a family where the father and his two daughters all have a duplication 18p11.32-p11.31 characterized by microarray. They present with variable levels of intellectual disability/developmental delay and behavioural difficulties without any physical anomalies. This family contributes toward the growing knowledge of pure duplications of 18p and provides information on interpretation of novel array findings in the context of family history. It also reiterates the importance of elucidating a detailed learning and developmental phenotype and family pedigree in aiding interpretation of genetic testing results. PMID:26287558

  9. A brief review of risk-factors for growth and developmental delay among preschool children in developing countries

    PubMed Central

    Ali, Syed Sadat

    2013-01-01

    The purpose of this article is to provide an overview of the highly prevalent risk factors influencing growth and development among pre-school children in rural population of developing countries. A child's brain during the first 3 years of life is rapidly developing through generation of neurons, synaptogenesis, axonal, and dendric growth and synaptic pruning each of which build upon each other. Any interruption in this process, such as trauma, stress, under-nutrition or lack of nutrients can have long-term effects on the brain's structure and on the child's socio-emotional development. Children's development is essentially cumulative in nature and hence, the early years of life are the foundation for later development. A Med-line search was done to review relevant articles in English literature on evaluation of risk factors influencing child development. Data were constructed and issues were reviewed from there. Influences upon children's development tend to be specific in nature and developmental influences rarely operate in isolation from each other. Developmental risk factors tend to cluster together thereby, interventions designed to facilitate development must be multifocal in nature, integrating influences from different domains. PMID:24520553

  10. A brief review of risk-factors for growth and developmental delay among preschool children in developing countries.

    PubMed

    Ali, Syed Sadat

    2013-01-01

    The purpose of this article is to provide an overview of the highly prevalent risk factors influencing growth and development among pre-school children in rural population of developing countries. A child's brain during the first 3 years of life is rapidly developing through generation of neurons, synaptogenesis, axonal, and dendric growth and synaptic pruning each of which build upon each other. Any interruption in this process, such as trauma, stress, under-nutrition or lack of nutrients can have long-term effects on the brain's structure and on the child's socio-emotional development. Children's development is essentially cumulative in nature and hence, the early years of life are the foundation for later development. A Med-line search was done to review relevant articles in English literature on evaluation of risk factors influencing child development. Data were constructed and issues were reviewed from there. Influences upon children's development tend to be specific in nature and developmental influences rarely operate in isolation from each other. Developmental risk factors tend to cluster together thereby, interventions designed to facilitate development must be multifocal in nature, integrating influences from different domains. PMID:24520553

  11. 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

  12. 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

  13. The Efficacy of Parent Counseling and Support Groups on the Stress Levels, Self-Esteem and Degree of Coping of Parents of Developmentally Delayed or Handicapped Children Who Are Involved in an Infant Intervention Program.

    ERIC Educational Resources Information Center

    La Fountain, Rebecca; Geoffroy, Kevin

    This study was conducted to investigate the effect that a parent support group and a counseling group had on the stress levels, self-esteem, and degree of coping of parents (N=48) of developmentally delayed or handicapped infants enrolled in an infant intervention program. It was hypothesized that, compared to parents in the control group, parents…

  14. Delayed effects of methylmercury on the mitochondria of dopaminergic neurons and developmental toxicity in zebrafish larvae (Danio rerio).

    PubMed

    Huang, Susie S Y; Noble, Sandra; Godoy, Rafael; Ekker, Marc; Chan, Hing Man

    2016-06-01

    Methylmercury (MeHg) is a known neurotoxicant affecting the central nervous system but effects on dopaminergic (DA) neurons are not well understood. Wild-type zebrafish (Danio rerio) and two transgenic lines: Tg(dat:eGFP) expressing enhanced green fluorescent protein (eGFP) in DA neuron clusters and Tg(dat:tom20 MLS-mCherry) expressing red fluorescence (mCherry) targeted to mitochondria of DA neurons were used to evaluate the effects of micromolar MeHg exposure on DA neuron and whole animal motor function during early development. Three-day-old larvae were exposed to micromolar concentrations of MeHg (0.03, 0.06, and 0.3μM) in system water. Exposure to 0.3μM MeHg caused mortality and significant morphological abnormalities including edema, curvature of the spine, and hemorrhages in zebrafish larvae after a 48h exposure period. At 0.06μM MeHg, the appearance of morphological abnormalities was delayed for 72h and far less severe, whereas 0.03μM MeHg did not cause any morphological defects or mortalities. A delayed but significant reduction in locomotor ability and mCherry fluorescence in specific brain regions in the 0.06μM MeHg exposed larvae suggests that DA neuron function rather than neuron numbers was compromised. Double immunolabeling with tyrosine hydroxylase and pan neural staining showed no effect of MeHg exposure. We have established Tg(dat:tom20 MLS-mCherry) zebrafish larvae as a model which can be used to assess MeHg neurotoxicity and that exposure to low dose MeHg (0.06μM) during development may predispose DA neurons to impairment caused by changes in mitochondrial dynamics. PMID:26994370

  15. A Novel Method for Quantifying Smooth Regional Variations in Myocardial Contractility Within an Infarcted Human Left Ventricle Based on Delay-Enhanced Magnetic Resonance Imaging.

    PubMed

    Genet, Martin; Chuan Lee, Lik; Ge, Liang; Acevedo-Bolton, Gabriel; Jeung, Nick; Martin, Alastair; Cambronero, Neil; Boyle, Andrew; Yeghiazarians, Yerem; Kozerke, Sebastian; Guccione, Julius M

    2015-08-01

    Heart failure is increasing at an alarming rate, making it a worldwide epidemic. As the population ages and life expectancy increases, this trend is not likely to change. Myocardial infarction (MI)-induced adverse left ventricular (LV) remodeling is responsible for nearly 70% of heart failure cases. The adverse remodeling process involves an extension of the border zone (BZ) adjacent to an MI, which is normally perfused but shows myofiber contractile dysfunction. To improve patient-specific modeling of cardiac mechanics, we sought to create a finite element model of the human LV with BZ and MI morphologies integrated directly from delayed-enhancement magnetic resonance (DE-MR) images. Instead of separating the LV into discrete regions (e.g., the MI, BZ, and remote regions) with each having a homogeneous myocardial material property, we assumed a functional relation between the DE-MR image pixel intensity and myocardial stiffness and contractility--we considered a linear variation of material properties as a function of DE-MR image pixel intensity, which is known to improve the accuracy of the model's response. The finite element model was then calibrated using measurements obtained from the same patient--namely, 3D strain measurements-using complementary spatial modulation of magnetization magnetic resonance (CSPAMM-MR) images. This led to an average circumferential strain error of 8.9% across all American Heart Association (AHA) segments. We demonstrate the utility of our method for quantifying smooth regional variations in myocardial contractility using cardiac DE-MR and CSPAMM-MR images acquired from a 78-yr-old woman who experienced an MI approximately 1 yr prior. We found a remote myocardial diastolic stiffness of C(0) = 0.102 kPa, and a remote myocardial contractility of T(max) = 146.9 kPa, which are both in the range of previously published normal human values. Moreover, we found a normalized pixel intensity range of 30% for the BZ, which is consistent with

  16. Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study123

    PubMed Central

    Schmidt, Rebecca J; Tancredi, Daniel J; Ozonoff, Sally; Hansen, Robin L; Hartiala, Jaana; Allayee, Hooman; Schmidt, Linda C; Tassone, Flora; Hertz-Picciotto, Irva

    2012-01-01

    Background: Periconceptional folate is essential for proper neurodevelopment. Objective: Maternal folic acid intake was examined in relation to the risk of autism spectrum disorder (ASD) and developmental delay (DD). Design: Families enrolled in the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study from 2003 to 2009 were included if their child had a diagnosis of ASD (n = 429), DD (n = 130), or typical development (TD; n = 278) confirmed at the University of California Davis Medical Investigation of Neurodevelopmental Disorders Institute by using standardized clinical assessments. Average daily folic acid was quantified for each mother on the basis of dose, brands, and intake frequency of vitamins, supplements, and breakfast cereals reported through structured telephone interviews. Results: Mean (±SEM) folic acid intake was significantly greater for mothers of TD children than for mothers of children with ASD in the first month of pregnancy (P1; 779.0 ± 36.1 and 655.0 ± 28.7 μg, respectively; P < 0.01). A mean daily folic acid intake of ≥600 μg (compared with <600 μg) during P1 was associated with reduced ASD risk (adjusted OR: 0.62; 95% CI: 0.42, 0.92; P = 0.02), and risk estimates decreased with increased folic acid (P-trend = 0.001). The association between folic acid and reduced ASD risk was strongest for mothers and children with MTHFR 677 C>T variant genotypes. A trend toward an association between lower maternal folic acid intake during the 3 mo before pregnancy and DD was observed, but not after adjustment for confounders. Conclusions: Periconceptional folic acid may reduce ASD risk in those with inefficient folate metabolism. The replication of these findings and investigations of mechanisms involved are warranted. PMID:22648721

  17. 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

  18. 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

  19. 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. PMID:26833329

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

    PubMed Central

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

    2016-01-01

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

  1. The frequency and distribution of spontaneous attention shifts between social and nonsocial stimuli in autistic, typically developing, and nonautistic developmentally delayed infants.

    PubMed

    Swettenham, J; Baron-Cohen, S; Charman, T; Cox, A; Baird, G; Drew, A; Rees, L; Wheelwright, S

    1998-07-01

    Spontaneous shifts of attention were observed in autistic, typically developing, and nonautistic developmentally delayed infants. Three types of attention shifting behaviour were observed; (1) between an object and another object, (2) between an object and a person, and (3) between a person and another person. The two control groups shifted attention more frequently between an object and a person than between an object and another object or between a person and another person. The infants with autism showed a different pattern, shifting attention between an object and another object more than any other type of shift. Furthermore, infants with autism showed fewer shifts of attention between an object and a person, and between person and person, than did the two control groups. They also spent less time overall looking at people and looked more briefly at people and for longer durations at objects, compared to the two control groups. These results indicate an abnormality in social orientation in autism even at the early age of 20 months. PMID:9690937

  2. Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.

    PubMed

    Verrotti, Alberto; Palka, Chiara; Prezioso, Giovanni; Alfonsi, Melissa; Calabrese, Giuseppe; Palka, Giandomenico; Chiarelli, Francesco

    2015-01-01

    We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with epilepsy. Among these, TGIF1 is expressed in the fetal and adult nervous system, and its deletion has been related to central nervous system diseases. TGIF1 deletions have previously been reported in patients with a comparable phenotype as seen in our case and in children whose neurological signs and symptoms were considerable, but not epileptiform. Mutations and deletions involving the TGIF1 gene have been described in patients with HPE in an autosomal dominant model of inheritance. However, TGIF1 mutations have also been reported in normal individuals and in patients with mental retardation or showing a very mild phenotype, suggesting the characteristic of incomplete penetrance and variable expressivity. Therefore, a TGIF1 deletion may not be always related to HPE, and it may have a link to the development of epilepsy. PMID:26278570

  3. An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

    PubMed

    Hartill, Verity L; Tysoe, Carolyn; Manning, Nigel; Dobbie, Angus; Santra, Saikat; Walter, John; Caswell, Richard; Koster, Janet; Waterham, Hans; Hobson, Emma

    2014-04-01

    We report on a family in which four males over three generations are affected with X-linked recessive developmental delay, learning difficulties, severe behavioral difficulties and mild dysmorphic features. Plasma sterol analysis in three of the four affected males demonstrated increased concentrations of 8-dehydrocholesterol (8-DHC) and cholest-8(9)-enol. All four affected males had a novel hemizygous missense mutation, p.W47R (c.139T>C), in EBP. Functional studies showed raised levels of cholest-8(9)-enol in patient's cultured fibroblast cells, which were suppressed when the cells were incubated with simvastatin. EBP encodes 3β-hydroxysteroid-delta8, delta7-isomerase, a key enzyme involved in the cholesterol biosynthesis pathway. Mutations in EBP have previously been associated with Conradi-Hunermann-Happle syndrome (CHH), an X-linked dominant disorder characterized by skeletal dysplasia, skin, and ocular abnormalities, which is usually lethal in males. Four previous reports describe X-linked recessive multiple anomaly syndromes associated with non-mosaic EBP mutations in males, two at the same amino acid position, p.W47C. This phenotype has previously been described as "MEND" syndrome (male EBP disorder with neurological defects). The family reported herein represent either a novel phenotype, or an expansion of the MEND phenotype, characterized by extreme behavioral difficulties and a scarcity of structural anomalies. Simvastatin therapy is being evaluated in two males from this family. PMID:24459067

  4. 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. PMID:22659271

  5. 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. PMID:22085995

  6. 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

  7. 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

  8. [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

  9. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

    PubMed Central

    2012-01-01

    Background Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic features associated with PAFAH1B1 or YWHAE duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication. Methods We analyze the proband and his family by classical cytogenetic and array-CGH analyses. The putative rearrangement was confirmed by fluorescence in situ hybridization. Results We have identified a family segregating a 17p13.3 duplication extending 329.5 kilobases by FISH and array-CGH involving the YWHAE gene, but not PAFAH1B1, affected by a mild dysmorphic phenotype with associated autism and mental retardation. We propose that BHLHA9, YWHAE, and CRK genes contribute to the phenotype of our patient. The small chromosomal duplication was inherited from his mother who was affected by a bipolar and borderline disorder and was alcohol addicted. Conclusions We report an additional familial case of small 17p13.3 chromosomal duplication including only BHLHA9, YWHAE, and CRK genes. Our observation and further cases with similar microduplications are expected to be diagnosed, and will help better characterise the clinical spectrum of phenotypes associated with 17p13.3 microduplications. PMID:23035971

  10. Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.

    PubMed

    Sharma, Pankaj; Gupta, Neerja; Chowdhury, Madhumita Roy; Sapra, Savita; Ghosh, Manju; Gulati, Sheffali; Kabra, Madhulika

    2016-09-15

    Intellectual disability (ID)/Global developmental delay (GDD) is a diverse group of disorders in terms of cognitive and non-cognitive functions and can occur with or without associated co-morbidities. It affects 1-3% of individuals globally and in at least 30-50% of cases the etiology remains unexplained. The widespread use of chromosomal microarray analysis (CMA) in a clinical setting has allowed the identification of submicroscopic copy number variations (CNVs), throughout the genome, associated with neurodevelopmental phenotypes including ID/GDD. In this study we investigated the utility of CMA in the detection of CNVs in 106 patients with unexplained ID/DD, dysmorphism with or without multiple congenital anomalies (MCA). CMA study was carried out using Agilent 8×60K chips and Illumina Human CytoSNP-12 chips. Pathogenic CNVs were found in 15 (14.2%) patients. In these patients, CNVs on single chromosome were detected in 10 patients while 5 patients showed co-occurrence CNVs on two chromosomes. The size of these CNVs ranged between 322kb to 13Mb. The yield of pathogenic CNVs was similar for both mild and severe ID/GDD cases. One patient described in this paper is considered to harbour a likely pathogenic CNV with deletion in 17q22 region. Only few cases have been described in literature for 17q22 deletion and patient reported here was found to have an atypical deletion in 17q22 region (Case 90). This study re-affirms the view point that CMA is a powerful diagnostic tool in the evaluation of idiopathic ID/GDD patients irrespective of the degree of severity. Identifying pathogenic CNVs helps in counseling and prenatal diagnosis if desired. PMID:27291820

  11. 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

  12. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.

    PubMed

    Volodarsky, Michael; Lichtig, Hava; Leibson, Tom; Sadaka, Yair; Kadir, Rotem; Perez, Yonatan; Liani-Leibson, Keren; Gradstein, Libe; Shaco-Levy, Ruthy; Shorer, Zamir; Frank, Dale; Birk, Ohad S

    2015-11-15

    Siblings of non-consanguineous Jewish-Ethiopian ancestry presented with congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects. Homozygosity mapping identified a single disease-associated locus of 3.5 Mb on chromosome 3. Studies of a Bedouin consanguineous kindred affected with a similar recessive phenotype identified a single disease-associated 18 Mb homozygosity locus encompassing the entire 3.5 Mb locus. Whole exome sequencing demonstrated only two homozygous mutations within a shared identical haplotype of 0.6 Mb, common to both Bedouin and Ethiopian affected individuals, suggesting an ancient common founder. Only one of the mutations segregated as expected in both kindreds and was not found in Bedouin and Jewish-Ethiopian controls: c.1404A>G, p.[*468Trpext*6] in CCDC174. We showed that CCDC174 is ubiquitous, restricted to the cell nucleus and co-localized with EIF4A3. In fact, yeast-two-hybrid assay demonstrated interaction of CCDC174 with EIF4A3, a component of exon junction complex. Knockdown of the CCDC174 ortholog in Xenopus laevis embryos resulted in poor neural fold closure at the neurula stage with later embryonic lethality. Knockdown embryos exhibited a sharp reduction in expression of n-tubulin, a marker for differentiating primary neurons, and of hindbrain markers krox20 and hoxb3. The Xenopus phenotype could be rescued by the human normal, yet not the mutant CCDC174 transcripts. Moreover, overexpression of mutant but not normal CCDC174 in neuroblastoma cells caused rapid apoptosis. In line with the hypotonia phenotype, the CCDC174 mutation caused depletion of RYR1 and marked myopathic changes in skeletal muscle of affected individuals. PMID:26358778

  13. Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay.

    PubMed

    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 the present 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 treatment strategies. There are currently no effective treatments, but some anti-epileptic drugs targeting the GABA system reduce seizure frequency. Acetazolamide, a carbonic anhydrase inhibitor and atypical anti-seizure medication decreases seizures in 4 patients. In contrast to previous reports, the ketogenic diet and fasting produce 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 improve 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, our 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

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

    PubMed

    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

    2016-02-01

    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

  15. 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…

  16. 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

  17. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

    PubMed

    Hochstenbach, Ron; van Binsbergen, Ellen; Engelen, John; Nieuwint, Aggie; Polstra, Abeltje; Poddighe, Pino; Ruivenkamp, Claudia; Sikkema-Raddatz, Birgit; Smeets, Dominique; Poot, Martin

    2009-01-01

    Anomalies of chromosome number and structure are considered to be the most frequent cause of unexplained, non-syndromic developmental delay and mental retardation (DD/MR). High-resolution, genome-wide, array-based segmental aneusomy profiling has emerged as a highly sensitive technique for detecting pathogenic genomic imbalances. A review of 29 array-based studies of DD/MR patients showed that a yield of at least approximately 19% pathogenic aberrations is attainable in unselected, consecutive DD/MR referrals if array platforms with 30-70 kb median probe spacing are used as an initial genetic testing method. This corresponds to roughly twice the rate of classical cytogenetics. This raises the question whether chromosome banding studies, combined with targeted approaches, such as fluorescence in situ hybridisation for the detection of microdeletions, still hold substantial relevance for the clinical investigation of these patients. To address this question, we reviewed the outcome of cytogenetic studies in all 36,325 DD/MR referrals in the Netherlands during the period 1996-2005, a period before the advent of array-based genome investigation. We estimate that in a minimum of 0.78% of all referrals a balanced chromosomal rearrangement would have remained undetected by array-based investigation. These include familial rearrangements (0.48% of all referrals), de novo reciprocal translocations and inversions (0.23% of all referrals), de novo Robertsonian translocations (0.04% of all referrals), and 69,XXX triploidy (0.03% of all referrals). We conclude that karyotyping, following an initial array-based investigation, would give only a limited increase in the number of pathogenic abnormalities, i.e. 0.23% of all referrals with a de novo, apparently balanced, reciprocal translocation or inversion (assuming that all of these are pathogenic), and 0.03% of all referrals with 69,XXX triploidy. We propose that, because of its high diagnostic yield, high-resolution array

  18. A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

    PubMed Central

    Upadhyaya, M; Roberts, S H; Maynard, J; Sorour, E; Thompson, P W; Vaughan, M; Wilkie, A O; Hughes, H E

    1996-01-01

    We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in size. Our findings highlight the importance of conducting a detailed cytogenetic and FISH analysis in patients with NF1 who have additional dysmorphic features or particularly severe learning difficulties. Images PMID:8929953

  19. Quantifying lip-read-induced suppression and facilitation of the auditory N1 and P2 reveals peak enhancements and delays.

    PubMed

    Baart, Martijn

    2016-09-01

    Lip-read speech suppresses and speeds up the auditory N1 and P2 peaks, but these effects are not always observed or reported. Here, the robustness of lip-read-induced N1/P2 suppression and facilitation in phonetically congruent audiovisual speech was assessed by analyzing peak values that were taken from published plots and individual data. To determine whether adhering to the additive model of AV integration (i.e., A+V ≠ AV, or AV-V ≠ A) is critical for correct characterization of lip-read-induced effects on the N1 and P2, auditory data was compared to AV and to AV-V. On average, the N1 and P2 were consistently suppressed and sped up by lip-read information, with no indication that AV integration effects were significantly modulated by whether or not V was subtracted from AV. To assess the possibility that variability in observed N1/P2 amplitudes and latencies may explain why N1/P2 suppression and facilitation are not always found, additional correlations between peak values and size of the AV integration effects were computed. These analyses showed that N1/P2 peak values correlated with the size of AV integration effects. However, it also became apparent that a portion of the AV integration effects was characterized by lip-read-induced peak enhancements and delays rather than suppressions and facilitations, which, for the individual data, seemed related to particularly small/early A-only peaks and large/late AV(-V) peaks. PMID:27295181

  20. 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…

  1. 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…

  2. 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

  3. 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

  4. Delayed early developmental trajectories of white matter tracts of functional pathways in preterm-born infants: Longitudinal diffusion tensor imaging data

    PubMed Central

    Chang, Linda; Akazawa, Kentaro; Yamakawa, Robyn; Hayama, Sara; Buchthal, Steven; Alicata, Daniel; Andres, Tamara; Castillo, Deborrah; Oishi, Kumiko; Skranes, Jon; Ernst, Thomas; Oishi, Kenichi

    2016-01-01

    Probabilistic maps of white matter pathways related to motor, somatosensory, auditory, visual, and limbic functions, and major white matter tracts (the corpus callosum, the inferior fronto-occipital fasciculus, and the middle cerebellar peduncle) were applied to evaluate the developmental trajectories of these tracts, using longitudinal diffusion tensor imaging (DTI) obtained in term-born and preterm-born healthy infants. Nineteen term-born and 30 preterm-born infants completed MR scans at three time points: Time-point 1, 41.6±2.7 postmenstrual weeks; Time-point 2, 46.0±2.9 postmenstrual weeks; and Time-point 3, 50.8±3.7 postmenstrual weeks. The DTI-derived scalar values (fractional anisotropy, eigenvalues, and radial diffusivity) of the three time points are available in this Data article. PMID:26958632

  5. Detecting points as developmental delay based on the life-history development and urosome deformity of the harpacticoid copepod, Tigriopus japonicus sensu lato, following exposure to benzo(a)pyrene.

    PubMed

    Bang, Hyun Woo; Lee, Wonchoel; Kwak, Inn-Sil

    2009-09-01

    To identify ecotoxicological responses to an endocrine disrupter, benzo(a)pyrene, we examined the life-history of the harpacticoid copepod, Tigriopus japonicus sensu lato. Based on the life-history of copepods, survival rate of nauplii (NSR) and copepodites (CSR), copepodite emergence day (CED) and adult male emergence day (AMED), sex ratio (MER), brooding success rate (BSR), and first brooding day of adult females (FBD) were measured. Significant differences were observed in the survival and development of nauplii (NSR and CED) and sex ratio (MER) of exposed and non-exposed copepods. Moreover, high concentration of BaP can be lethal to copepodite and exhibited a delay of growth. In this study, the CED and AMED among ecotoxicological response based on life-history developments were delayed and the body characteristics decreased in response to exposure to benzo(a)pyrene. The dwarfism and urosome deformity of the T. japonicus s.l. was exhibited in response to chemical exposure. Specifically, the body characteristics and biomass of dwarf copepods that had been exposed to benzo(a)pyrene were 30% and 50% lower than the control group, respectively. The incidence of abnormal urosomes was divided into two types. The first deformity type was signs of shrinkage in the middle of the urosome or the entire urosome was narrower than those of the control organisms. In the second type, the anal somite and the distal side of the urosome had abnormally swelled. Taken together, the nauplii and copepodid development of T. japonicus s.l. can be used as a useful biomaker for detecting developmental delay based on their entire life-history. In addition, the urosome deformity was used a good potential monitoring tool invading various chemicals and environmental contamination into water system. PMID:19560185

  6. L'emergence de la lecture chez des enfants presentant des retards de developpement: Programme de stimulation en milieu familial a l'intention des parents (The Emergence of Reading in Children with Developmental Delays: Stimulation Program in the Family Environment Guided by Parents).

    ERIC Educational Resources Information Center

    Saint-Laurent, Lise; And Others

    1994-01-01

    This booklet presents a reading and writing intervention program for French Canadian preschool children with developmental delays, to be implemented by parents or collaboratively by parents and teachers. The program calls for children to have frequent contacts with written language, in order to facilitate the development of a positive attitude…

  7. 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...

  8. 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. PMID:12136233

  9. 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.

  10. 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…

  11. Partial trisomy 3p and partial monosomy 11q associated with atrial septal defect, cleft palate, and developmental delay: a case report.

    PubMed

    Tan, E-C; Lim, E; Cham, B; Knight, L; Ng, I

    2011-01-01

    Unbalanced translocation involving both chromosome 3p duplication and 11q deletion in the same patient is extremely rare; only 1 live-born case was reported previously. This karyotype was also detected during prenatal diagnosis of 2 different pregnancies in a Taiwanese family which were both terminated. In all 3 cases, only standard karyotyping was done to detect the abnormal karyotypes. Here, we report a 4-year-old boy with cleft palate, atrial septal defect, and hypotonia with gross and fine motor delay. Oligonucleotide-based array comparative genomic hybridization showed copy number gain from 3pter to 3p24.2 (approximately 24.5 Mb) and copy number loss from 11q25 to 11qter (approximately 5.8 Mb). This de novo unbalanced translocation event involving a terminal 3p duplication and a terminal 11q deletion provides candidate genes for further investigation of dosage effect leading to the patient's multiple phenotypic abnormalities. Genotype-phenotype correlation is difficult to make in this case due to the large number of genes involved. However, the description of such cases together with precise gene-level mapping of chromosomal breakpoints will add to further refinement of candidate genes to be investigated for terminal imbalances in 3p and 11q when more similar cases are reported. PMID:21654159

  12. 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 ...

  13. 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. PMID:25552650

  14. Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy– Report of the Second Family with B3GAT3 mutation and Expansion of the Phenotype

    PubMed Central

    von Oettingen, Julia E.; Tan, Wen-Hann; Dauber, Andrew

    2015-01-01

    As a major component of the extracellular matrix, proteoglycans influence the mechanical properties of connective tissue and play an important role in cell-cell and cell-matrix interactions. Genetic defects of proteoglycan biosynthesis lead to multi-system disorders, often most prominently affecting the skeletal system and skin. Specific deficiencies in the enzymes involved in the biosynthesis of the linkage region between the core of the proteoglycan protein and its glycosaminoglycan side chains are known as linkeropathies. We report on a patient from a second family with a homozygous c.830 G>A (p.Arg277Gln) mutation in the B3GAT3 gene. The clinical features expand the previously reported phenotype of B3GAT3 mutations and of linkeropathies in general. This patient has short stature, facial dysmorphisms, skeletal findings, joint laxity, and cardiac manifestations similar to those previously associated with B3GAT3 mutations. However, he also has developmental delay, a visual refractory defect, dental defects, pectus carinatum, and skin abnormalities that have only been associated with linkeropathies caused by mutations in B4GALT6 and B4GALT7. He has bilateral inguinal hernias and atlanto-axial as well as atlanto-occipital instability that have not been previously associated with B3GAT3 mutations. We provide a detailed clinical report and a comparative overview of the phenotypic features of the linkeropathies caused by mutations in B3GAT3, B4GALT6 and B4GALT7. PMID:24668659

  15. Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

    PubMed Central

    Lalani, Seema R; Sahoo, Trilochan; Sanders, Merideth E; Peters, Sarika U; Bejjani, Bassem A

    2006-01-01

    Background Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have common features of growth retardation, hypotonia and moderate to severe mental retardation. Congenital heart disease has been described in three individuals with interstitial deletion involving this region of chromosome 15. Case presentation We report a child with coarctation of the aorta, partial agenesis of corpus callosum and mild to moderate developmental delay, with a de novo deletion of 15q21.1q22.2, detected by the array Comparative Genomic Hybridization (CGH). We utilized chromosome 15-specific microarray-based CGH to define the chromosomal breakpoints in this patient. Conclusion This is the first description of mapping of an interstitial deletion involving the chromosome 15q21q22 segment using the chromosome 15-specific array-CGH. The report also expands the spectrum of clinical phenotype associated with 15q21q22 deletion. PMID:16472378

  16. 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

  17. Quantifying entanglement

    NASA Astrophysics Data System (ADS)

    Thapliyal, Ashish Vachaspati

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

  18. 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...

  19. 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, ...

  20. Developmental Disabilities

    MedlinePlus

    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, ... everyday living. There are many causes of developmental disabilities, including Genetic or chromosome abnormalities. These cause conditions ...

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

    PubMed Central

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

    2011-01-01

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

  2. Delayed ejaculation

    MedlinePlus

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

  3. 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.

  4. 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

  5. Delayed discharge.

    PubMed

    Allen, Daniel

    2016-07-01

    Essential facts Delays in discharging older peo ple from hospital cost the NHS £820 million a year, according to a report from the National Audit Office (NAO). Last year in acute hospitals, 1.15 million bed days were lost to delayed transfers of care, an increase of 31% since 2013. The NAO says rising demand for NHS services is compounded by reduced local authority spending on adult social care - down by 10% since 2009-10. PMID:27380673

  6. 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…

  7. 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

  8. 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

  9. 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

  10. 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

  11. [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…

  12. Developmental decisions

    PubMed Central

    Tobin, David V.; Saito, Richard Mako

    2012-01-01

    The small nematode C. elegans is characterized by developing through a highly coordinated, reproducible cell lineage that serves as the basis of many studies focusing on the development of multi-lineage organisms. Indeed, the reproducible cell lineage enables discovery of developmental defects that occur in even a single cell. Only recently has attention been focused on how these animals modify their genetically programmed cell lineages to adapt to altered environments. Here, we summarize the current understanding of how C. elegans responds to food deprivation by adapting their developmental program in order to conserve energy. In particular, we highlight the AMPK-mediated and insulin-like growth factor signaling pathways that are the principal regulators of induced cell cycle quiescence. PMID:22510569

  13. 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

  14. 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

  15. 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

  16. 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…

  17. 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…

  18. 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…

  19. 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,…

  20. Quantifying Gender Differences in Physical Performance: A Developmental Perspective.

    ERIC Educational Resources Information Center

    Smoll, Frandk L.; Schutz, Robert W.

    1990-01-01

    When 2,142 students in Grades 3, 7, and 11 were tested on 6 motor tasks, performance decrements resulting from fatness were found for boys and girls equally and constantly across the grades. Boys exhibited progressively greater performance superiority across grades. However, for specific tasks, an age-related decrease was found in degree to which…

  1. Comparison of Progressive Prompt Delay with and without Instructive Feedback

    ERIC Educational Resources Information Center

    Reichow, Brian; Wolery, Mark

    2011-01-01

    We examined the effectiveness and efficiency of 2 instructional arrangements using progressive prompt delay (PPD) with 3 young children with autism and 1 child with developmental delays. Specifically, we compared PPD with instructive feedback (IF) to PPD without IF in an adapted alternating treatment design. The results suggested that (a) children…

  2. The Effect of Cognitive Restructuring on Delay of Gratification.

    ERIC Educational Resources Information Center

    Nisan, Mordecai; Koriat, Asher

    1984-01-01

    Two experiments evaluated predictions derived from a cognitive-developmental approach to delay of gratification. In the first, kindergarten children were asked to make a choice between a small immediate and a large delayed reward. In the second, children were presented with either an objective-rational or a subjective-emotional argument…

  3. 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…

  4. 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…

  5. 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

  6. Developmental dyslexia.

    PubMed

    Démonet, Jean-François; Taylor, Margot J; Chaix, Yves

    2004-05-01

    Developmental dyslexia, or specific reading disability, is a disorder in which children with normal intelligence and sensory abilities show learning deficits for reading. Substantial evidence has established its biological origin and the preponderance of phonological disorders even though important phenotypic variability and comorbidity have been recorded. Diverse theories have been proposed to account for the cognitive and neurological aspects of dyslexia. Findings of genetic studies show that different loci affect specific reading disability although a direct relation has not been established between symptoms and a given genomic locus. In both children and adults with dyslexia, results of neuroimaging studies suggest defective activity and abnormal connectivity between regions crucial for language functions--eg, the left fusiform gyrus for reading--and changes in brain activity associated with performance improvement after various remedial interventions. PMID:15121410

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

    ERIC Educational Resources Information Center

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

    2011-01-01

    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…

  8. 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…

  9. Early Symptoms and Recognition of Pervasive Developmental Disorders in Germany

    ERIC Educational Resources Information Center

    Noterdaeme, Michele; Hutzelmeyer-Nickels, Anna

    2010-01-01

    Pervasive developmental disorders are characterised by the presence of abnormalities in social interaction and communication as well as repetitive patterns of behaviours. Although early symptoms of the disorder often appear during the first two years of life, its diagnosis is often delayed. The purpose of this study is to analyse the delay between…

  10. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

    PubMed Central

    Yang, Hui; Douglas, Ganka; Monaghan, Kristin G.; Retterer, Kyle; Cho, Megan T.; Escobar, Luis F.; Tucker, Megan E.; Stoler, Joan; Rodan, Lance H.; Stein, Diane; Marks, Warren; Enns, Gregory M.; Platt, Julia; Cox, Rachel; Wheeler, Patricia G.; Crain, Carrie; Calhoun, Amy; Tryon, Rebecca; Richard, Gabriele; Vitazka, Patrik; Chung, Wendy K.

    2015-01-01

    Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or neurodevelopmental delay who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif–containing protein 1 (AHDC1). The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors. Additional common clinical features include dysmorphic facial features and feeding difficulties associated with failure to thrive and short stature. The AHDC1 gene has only one coding exon, and the protein contains conserved regions including AT-hook motifs and a PDZ binding domain. We postulate that all seven variants detected in these patients result in a truncated protein missing critical functional domains, disrupting interactions with other proteins important for brain development. Our study demonstrates that truncating variants in AHDC1 are associated with ID and are primarily associated with a neurodevelopmental phenotype. PMID:27148574

  11. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.

    PubMed

    Yang, Hui; Douglas, Ganka; Monaghan, Kristin G; Retterer, Kyle; Cho, Megan T; Escobar, Luis F; Tucker, Megan E; Stoler, Joan; Rodan, Lance H; Stein, Diane; Marks, Warren; Enns, Gregory M; Platt, Julia; Cox, Rachel; Wheeler, Patricia G; Crain, Carrie; Calhoun, Amy; Tryon, Rebecca; Richard, Gabriele; Vitazka, Patrik; Chung, Wendy K

    2015-10-01

    Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or neurodevelopmental delay who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif-containing protein 1 (AHDC1). The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors. Additional common clinical features include dysmorphic facial features and feeding difficulties associated with failure to thrive and short stature. The AHDC1 gene has only one coding exon, and the protein contains conserved regions including AT-hook motifs and a PDZ binding domain. We postulate that all seven variants detected in these patients result in a truncated protein missing critical functional domains, disrupting interactions with other proteins important for brain development. Our study demonstrates that truncating variants in AHDC1 are associated with ID and are primarily associated with a neurodevelopmental phenotype. PMID:27148574

  12. Developmental dyspraxia and developmental coordination disorder.

    PubMed

    Miyahara, M; Möbs, I

    1995-12-01

    This article discusses the role developmental dyspraxia plays in developmental coordination disorder (DCD), based upon a review of literature on apraxia, developmental dyspraxia, and DCD. Apraxia and dyspraxia have often been equated with DCD. However, it is argued that apraxia and dyspraxia primarily refer to the problems of motor sequencing and selection, which not all children with DCD exhibit. The author proposes to distinguish developmental dyspraxia from DCD. Other issues discussed include the assessment, etiology, and treatment of developmental dyspraxia and DCD, and the relationship between DCD and learning disabilities. A research agenda is offered regarding future directions to overcome current limitation. PMID:8866511

  13. 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

  14. Modeling mechanisms of persisting and resolving delay in language development.

    PubMed

    Thomas, Michael S C; Knowland, V C P

    2014-04-01

    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 individual rates of development in 1,000 simulated individuals acquiring a notional language domain (in this study, represented by English past tense). Variation was caused by differences in internal neurocomputational learning parameters as well as the richness of the language environment. An early language delay group was diagnosed, and individual trajectories were then traced. RESULTS Quantitative variations in learning mechanisms were sufficient to produce persisting delay and resolving delay subgroups in similar proportions to empirical observations. In the model, persisting language delay was caused by limitations in processing capacity, whereas resolving delay was caused by low plasticity. Richness of the language environment did not predict the emergence of persisting delay but did predict the final ability levels of individuals with resolving delay. CONCLUSION Mechanistically, it is viable that persisting delay and resolving delay are only quantitatively different. There may be an interaction between environmental factors and outcome groups, with individuals who have resolving delay being influenced more by the richness of the language environment. PMID:24129016

  15. 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

  16. 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…

  17. 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.

  18. 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

  19. 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…

  20. 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 ...

  1. Quantifying Health Across Populations.

    PubMed

    Kershnar, Stephen

    2016-07-01

    In this article, I argue that as a theoretical matter, a population's health-level is best quantified via averagism. Averagism asserts that the health of a population is the average of members' health-levels. This model is better because it does not fall prey to a number of objections, including the repugnant conclusion, and because it is not arbitrary. I also argue that as a practical matter, population health-levels are best quantified via totalism. Totalism asserts that the health of a population is the sum of members' health-levels. Totalism is better here because it fits better with cost-benefit analysis and such an analysis is the best practical way to value healthcare outcomes. The two results are compatible because the theoretical and practical need not always align, whether in general or in the context of population health. PMID:26766584

  2. 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

  3. Quantifying concordance in cosmology

    NASA Astrophysics Data System (ADS)

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

    2016-05-01

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

  4. Developmental Science and Counseling

    ERIC Educational Resources Information Center

    Geidner, James M.

    2009-01-01

    Developmental counseling is a promising model integrating theory and practice. A. E. Ivey's (2000; A. E. Ivey & O. F. Goncalves, 1988) work is discussed as a template for proposing a more comprehensive developmental perspective. Where A. E. Ivey's model renders a case for cognition, the current article encompasses other developmental systems…

  5. 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)

  6. 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…

  7. Signaling Delays Preclude Defects in Lateral Inhibition Patterning

    NASA Astrophysics Data System (ADS)

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

    2016-03-01

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

  8. 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.

  9. What is developmental dyspraxia?

    PubMed

    Dewey, D

    1995-12-01

    The idea of developmental dyspraxia has been discussed in the research literature for almost 100 years. However, there continues to be a lack of consensus regarding both the definition and description of this disorder. This paper presents a neuropsychologically based operational definition of developmental dyspraxia that emphasizes that developmental dyspraxia is a disorder of gesture. Research that has investigated the development of praxis is discussed. Further, different types of gestural disorders displayed by children and different mechanisms that underlie developmental dyspraxia are compared to and contrasted with adult acquired apraxia. The impact of perceptual-motor, language, and cognitive impairments on children's gestural development and the possible associations between these developmental disorders and developmental dyspraxia are also examined. Also, the relationship among limb, orofacial, and verbal dyspraxia is discussed. Finally, problems that exist in the neuropsychological assessment of developmental dyspraxia are discussed and recommendations concerning what should be included in such an assessment are presented. PMID:8838385

  10. Delayed orgasm and anorgasmia.

    PubMed

    Jenkins, Lawrence C; Mulhall, John P

    2015-11-01

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

  11. 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…

  12. Deficit or Delay: Neuropsychological Models of Developmental Dyslexia.

    ERIC Educational Resources Information Center

    Dalby, J. Thomas

    1979-01-01

    The review examines issues and research relating to the involvement of the central nervous system in reading disorders. Questions regarding subtypes, pre- and perinatal influences, genetics, sex differences, and early identification are briefly surveyed along with a summary of major research findings in neuropsychology and neurology. (Author)

  13. 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…

  14. 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…

  15. 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

  16. 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…

  17. 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 ...

  18. Quantifying surface normal estimation

    NASA Astrophysics Data System (ADS)

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

    2006-05-01

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

  19. 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.

  20. Developmental effects of dioxins and related endocrine disrupting chemicals.

    PubMed

    Birnbaum, L S

    1995-12-01

    Alteration of hormones has long been known to affect development. TCDD and related PHAHs modulate the levels of many hormonal systems. Dioxins cause a spectrum of morphological and functional developmental deficits. Fetotoxicity, thymic atrophy, and structural malformations are often noted. Delayed genitourinary tract effects have been observed, and recent studies reported behavioral effects. Highly exposed human offspring have exhibited developmental problems as well. Recently, hormonal and neurological abnormalities have been reported in infants from the general population. The complex alteration of multiple endocrine systems is likely associated with the spectrum of adverse developmental effects caused by dioxin and related compounds. PMID:8597137

  1. 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.

  2. 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

  3. 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

  4. 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.…

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  6. 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…

  7. 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. PMID:25994586

  8. 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.

  9. 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

  10. Quantifying Loopy Network Architectures

    PubMed Central

    Katifori, Eleni; Magnasco, Marcelo O.

    2012-01-01

    Biology presents many examples of planar distribution and structural networks having dense sets of closed loops. An archetype of this form of network organization is the vasculature of dicotyledonous leaves, which showcases a hierarchically-nested architecture containing closed loops at many different levels. Although a number of approaches have been proposed to measure aspects of the structure of such networks, a robust metric to quantify their hierarchical organization is still lacking. We present an algorithmic framework, the hierarchical loop decomposition, that allows mapping loopy networks to binary trees, preserving in the connectivity of the trees the architecture of the original graph. We apply this framework to investigate computer generated graphs, such as artificial models and optimal distribution networks, as well as natural graphs extracted from digitized images of dicotyledonous leaves and vasculature of rat cerebral neocortex. We calculate various metrics based on the asymmetry, the cumulative size distribution and the Strahler bifurcation ratios of the corresponding trees and discuss the relationship of these quantities to the architectural organization of the original graphs. This algorithmic framework decouples the geometric information (exact location of edges and nodes) from the metric topology (connectivity and edge weight) and it ultimately allows us to perform a quantitative statistical comparison between predictions of theoretical models and naturally occurring loopy graphs. PMID:22701593

  11. Quantifying T Lymphocyte Turnover

    PubMed Central

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

    2013-01-01

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

  12. 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.

  13. 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

  14. 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

  15. 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…

  16. 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…

  17. Parent Training for Young Children with Developmental Disabilities: Randomized Controlled Trial

    ERIC Educational Resources Information Center

    McIntyre, Laura Lee

    2008-01-01

    A randomized controlled trial was used to evaluate a parent training intervention for caregivers with preschool-age children with developmental disabilities. The 21 families in the experimental group received usual care plus the 12-week Incredible Years Parent Training Program with developmental delay modifications. Families in the control group…

  18. 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.

  19. 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.

  20. Developmental Programs: Survival Techniques.

    ERIC Educational Resources Information Center

    Binder, F. Eugene; Kinsey, Richard H.

    1978-01-01

    Describes major program elements of the College Assistance Migrant Program (CAMP)--a developmental education program at St. Edward's University, Texas, serving a population of migrant and seasonal farmworker families. Outlines steps necessary to receive funding and legislative support for developmental education programs. (DR)

  1. Genetics and Developmental Psychology

    ERIC Educational Resources Information Center

    Plomin, Robert

    2004-01-01

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

  2. Developmental Program Evaluation.

    ERIC Educational Resources Information Center

    Chesapeake Public Schools, VA. Office of Program Evaluation.

    The Developmental Program of the Chesapeake Public School Division (Virginia) is designed to provide a year between kindergarten and first grade for the academically able student who is not ready for the structure of the regular first grade because of physical, emotional, or social (developmental) immaturity. It is an all-day, full-year program…

  3. 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.…

  4. 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…

  5. 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…

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

  7. 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

  8. 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

  9. 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.

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

    PubMed Central

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

    2008-01-01

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

  11. 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.

  12. 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…

  13. The Social Behavior of Preschool Children at Different Developmental Levels: Effects of Group Composition.

    ERIC Educational Resources Information Center

    Guralnick, Michael J.

    1981-01-01

    Observations were made of the social participation, constructiveness of play, and communicative interactions of developmentally delayed and non-delayed preschool children as they interacted in heterogeneous groups. The only significant effect of heterogeneous group composition on the children was reduced inappropriate play by severely delayed…

  14. Limitations of self-phase-modulation-based tunable delay system for all-optical buffer design.

    PubMed

    Pant, Ravi; Stenner, Michael D; Neifeld, Mark A

    2008-09-20

    The distortion, noise, and bit-delay performance of a self-phase-modulation-based tunable delay system are analyzed. The pulse amplification required for achieving large spectral broadening results in large amplifier noise. We quantify the resulting delay versus signal-to-noise ratio trade-off. We demonstrate that for high bit rates it is difficult to achieve both large bit delay and good data fidelity. We find that for a given bit rate, reducing the duty cycle improves the fractional bit delay. For a duty cycle of 16%, a maximum bit delay of 15 bits is achieved. PMID:18806867

  15. 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

  16. 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

  17. 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

  18. 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 ...

  19. 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)

  20. Plants: Novel Developmental Processes.

    ERIC Educational Resources Information Center

    Goldberg, Robert B.

    1988-01-01

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

  1. 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 , ...

  2. Developmental milestones record

    MedlinePlus

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

  3. Computing using delayed feedback systems: towards photonics

    NASA Astrophysics Data System (ADS)

    Appeltant, L.; Soriano, M. C.; Van der Sande, G.; Danckaert, J.; Massar, S.; Dambre, J.; Schrauwen, B.; Mirasso, C. R.; Fischer, I.

    2012-06-01

    Reservoir computing has recently been introduced as a new paradigm in the eld of machine learning. It is based on the dynamical properties of a network of randomly connected nodes or neurons and shows to be very promising to solve complex classication problems in a computationally ecient way. The key idea is that an input generates nonlinearly transient behavior rendering transient reservoir states suitable for linear classication. Our goal is to study up to which extent systems with delay, and especially photonic systems, can be used as reservoirs. Recently an new architecture has been proposed1 , based on a single nonlinear node with delayed feedback. An electronic1 and an opto-electronic implementation2, 3 have been demonstrated and both have proven to be very successful in terms of performance. This simple conguration, which replaces an entire network of randomly connected nonlinear nodes with one single hardware node and a delay line, is signicantly easier to implement experimentally. It is no longer necessary to construct an entire network of hundreds or even thousands of circuits, each one representing a node. With this approach one node and a delay line suce to construct a computational unit. In this manuscript, we present a further investigation of the properties of delayed feedback congurations used as a reservoir. Instead of quantifying the performance as an error obtained for a certain benchmark, we now investigate a task-independent property, the linear memory of the system.

  4. 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

  5. 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.

  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. 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

  8. 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

  9. Systemic delay propagation in the US airport network.

    PubMed

    Fleurquin, Pablo; Ramasco, José J; Eguiluz, Victor M

    2013-01-01

    Technologically driven transport systems are characterized by a networked structure connecting operation centers and by a dynamics ruled by pre-established schedules. Schedules impose serious constraints on the timing of the operations, condition the allocation of resources and define a baseline to assess system performance. Here we study the performance of an air transportation system in terms of delays. Technical, operational or meteorological issues affecting some flights give rise to primary delays. When operations continue, such delays can propagate, magnify and eventually involve a significant part of the network. We define metrics able to quantify the level of network congestion and introduce a model that reproduces the delay propagation patterns observed in the U.S. performance data. Our results indicate that there is a non-negligible risk of systemic instability even under normal operating conditions. We also identify passenger and crew connectivity as the most relevant internal factor contributing to delay spreading. PMID:23362459

  10. 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.

  11. The Vernier delay unit

    SciTech Connect

    Pierce, W.B.

    1985-02-01

    One of the most critical timing specifications for the SLC machine occurs at the injector and ejector magnets for the Damping Ring. It has been determined that the trigger pulses to the magnets must be controlled to 0.1 ns. The primary source for all trigger pulses for the SLC machine is the Programmable Delay Unit (PDU). The PDU generates a 67.2 ns wide pulse with delay increments of 8.7 ns. The gap between the required accuracy and that available from the PDU requires the design of a new module that is called the Vernier Delay Unit (VDU). This module accepts the 67.2 ns pulse from the PDU and is capable of increasing the delay in steps of 0.1 ns from 0 to 10.7 ns plus the minimum 9 ns delay. The module has two totally independent channels. The pulse input to the module is software selectable from either the auxiliary backplane or a front panel Lemo connector. The auxiliary backplane pulses are to be the 67 ns differential ECL pulses from the PDU. The front panel input is to be a NIM level (-0.7 V 50 termination).

  12. Pitfalls in developmental diagnosis.

    PubMed Central

    Illingworth, R S

    1987-01-01

    I have never seen a paper or chapter of a book devoted to pitfalls and mistakes in developmental diagnosis. This paper is designed to try to fill the gap. It concerns the avoidance of mistakes in developmental diagnosis and is based entirely on mistakes that I have made myself and now learned to try to avoid and on mistakes that I have seen, most of them repeatedly. I have made no mention of mistakes that could theoretically be made but that I have not personally seen. I believe that most assessment errors are due to overconfidence and to the view that developmental diagnosis is easy. Many other mistakes are due to reliance on purely objective tests with consequent omission of a detailed history and physical examination, so that factors that profoundly affect development but are not directly related to the child's mental endowment are not weighed up before an opinion is reached. PMID:2444167

  13. 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…

  14. 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.…

  15. Feature Analysis of Singleton Consonant Errors in Developmental Verbal Dyspraxia (DVD).

    ERIC Educational Resources Information Center

    Thoonen, G.; And Others

    1994-01-01

    This study attempted to quantify diagnostic characteristics related to consonant production of developmental verbal dyspraxia (DVD) in 11 Dutch children (ages 6 and 7). The study was able to quantify diagnostic characteristics but found very few qualitative differences in error patterns between children with DVD and 11 age-matched children with…

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

    PubMed

    Salman, Michael S

    2015-05-01

    Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defective slow phases of the optokinetic response are commonly associated with brain MRI abnormalities. Isolated defect of vertical saccade initiation may indicate supratentorial brain abnormalities on MRI. Joubert syndrome, a developmental midbrain-hindbrain malformation, and ataxia telangiectasia are both commonly associated with defective volitional and reflexive saccade initiation, saccade hypometria, and head thrusts. Both horizontal and vertical saccades are impaired in these two disorders. PMID:25783597

  17. 29 CFR 1952.221 - Developmental schedule.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Tennessee § 1952.221 Developmental schedule. The Tennessee state plan is developmental. The following is the developmental schedule...

  18. 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...

  19. Isolating the delay component of impulsive choice in adolescent rats

    PubMed Central

    McClure, Jesse; Podos, Jeffrey; Richardson, Heather N.

    2014-01-01

    Impulsive choice—the preference for small immediate rewards over larger delayed rewards—has been linked to various psychological conditions ranging from behavioral disorders to addiction. These links highlight the critical need to dissect the various components of this multifaceted behavioral trait. Delay discounting tasks allow researchers to study an important factor of this behavior: how the subjective value of a rewards changes over a delay period. However, existing methods of delay discounting include a confound of different reward sizes within the procedure. Here we present a new approach of using a single constant reward size to assess delay discounting. A complementary approach could hold delay constant and assess the utility of changing quantities of a reward. Isolating these behavioral components can advance our ability to explore the behavioral complexity of impulsive choice. We present in detail the methods for isolating delay, and further capitalize on this method by pairing it with a standard peak interval task to test whether individual variation in delay discounting can be explained by differences in perception of time in male and female adolescent rats. We find that rats that were more precise in discriminating time intervals were also less impulsive in their choice. Our data suggest that differences in timing and delay discounting are not causally related, but instead are more likely influenced by a common factor. Further, the mean-level change in our measure between post-natal day 28 and 42 suggests this test may be capturing a developmental change in this factor. In summary, this new method of isolating individual components of impulsive choice (delay or quantity) can be efficiently applied in either adolescent or adult animal models and may help elucidate the mechanisms underlying impulsivity and its links to psychological disorders. PMID:24478644

  20. 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…

  1. 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…

  2. 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

  3. 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

  4. Estimating Delays In ASIC's

    NASA Technical Reports Server (NTRS)

    Burke, Gary; Nesheiwat, Jeffrey; Su, Ling

    1994-01-01

    Verification is important aspect of process of designing application-specific integrated circuit (ASIC). Design must not only be functionally accurate, but must also maintain correct timing. IFA, Intelligent Front Annotation program, assists in verifying timing of ASIC early in design process. This program speeds design-and-verification cycle by estimating delays before layouts completed. Written in C language.

  5. Quantifying Electron Delocalization in Electrides.

    PubMed

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

    2016-01-12

    Electrides are ionic solids whose anions are electrons confined to crystal voids. We show that our electron delocalization range function EDR(r;d), which quantifies the extent to which an electron at point r in a calculated wave function delocalizes over distance d, provides useful insights into electrides. The EDR quantifies the characteristic delocalization length of electride electrons and provides a chemically intuitive real-space picture of the electrons' distribution. It also gives a potential diagnostic for whether a given formula unit will form a solid electride at ambient pressure, quantifies the effects of electron-electron correlation on confined electrons' interactions, and highlights analogies between covalent bonding and the interaction of interstitial quasi-atoms in high-pressure electrides. These results motivate adding the EDR to the toolbox of theoretical methods applied to electrides. PMID:26652208

  6. 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.' PMID:27242648

  7. 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)…

  8. Developmental Assessment: New Directions.

    ERIC Educational Resources Information Center

    Bergan, John R.; Feld, Jason K.

    1993-01-01

    Discusses the Management and Planning System (MAPS), a developmental assessment system initiated in Head Start. The system consists of instruments which assess preschoolers' and kindergartners' development of math, science, literacy, and social skills and children's motor development. Describes the use and benefits of MAPS observational…

  9. Mammary Glands: Developmental Changes

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The mammary gland progresses from the accumulation of a few cells in the embryonic ectoderm to a highly arborescent tubulo-alveolar gland capable of secreting a highly nutritious product for consumption. Throughout this progression, various changes occur during each developmental stage: prenatal, pr...

  10. Developmental Guidance Program Implementation.

    ERIC Educational Resources Information Center

    Vernon, Ann; Strub, Richard

    This packet of materials was developed for workshops provided to teams of school counselors and administrators for the purpose of developing knowledge and competencies in the delivery of a comprehensive, sequential, developmental guidance program. Section I contains a rationale, definition, and description of program components. In section II…

  11. Developmental Algorithms Have Meaning!

    ERIC Educational Resources Information Center

    Green, John

    1997-01-01

    Adapts Stanic and McKillip's ideas for the use of developmental algorithms to propose that the present emphasis on symbolic manipulation should be tempered with an emphasis on the conceptual understanding of the mathematics underlying the algorithm. Uses examples from the areas of numeric computation, algebraic manipulation, and equation solving…

  12. Developmental Courses Are Creditable

    ERIC Educational Resources Information Center

    Erickson, Michael E.; Rosica, Anthony D.

    1978-01-01

    Expresses position that the development of academic and interpersonal skills through developmental programs is a legitimate function of any comprehensive community/junior college and that the granting of college credit for time spent acquiring skills legitimizes learning. Also deals with objections to granting college credit for remedial courses.…

  13. Handbook of Developmental Disabilities

    ERIC Educational Resources Information Center

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

    2007-01-01

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

  14. 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. 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…

  16. 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…

  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. Interferometric Propagation Delay

    NASA Technical Reports Server (NTRS)

    Goldstein, Richard

    1999-01-01

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

  19. 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. PMID:22233769

  20. Positive Parenting Practices, Health Disparities, and Developmental Progress

    PubMed Central

    Sobotka, Sarah A.; Chen, Yi-Fan; Msall, Michael E.

    2015-01-01

    OBJECTIVE: To describe interactive activities between parents and young children in a nationally representative sample. We hypothesized that the frequency of participation in interactive activities would be different across economic strata and would be associated with developmental delay. METHODS: Children 4 to 36 months of age were identified by using The National Survey of Children’s Health 2011–2012. Interactive caregiving practices were reported by poverty status. Developmental concerns were derived from caregiver responses and scoring of the Parents Evaluation of Developmental Status. Multivariable logistic regressions with weighting were used to explore the effect of interactive practices on risk for developmental delay across poverty levels. Covariates including age, gender, insurance type, maternal education, parenting stress, and ethnicity were adjusted in the models. RESULTS: In our sample (n = 12 642), caregivers with the lowest income versus highest income reported lower participation in reading (33% vs 64%; P < .0001), singing or telling stories (52% vs 77%, P < .0001), and taking their child on an outing (13% vs 22%, P < .0001). Less frequent participation in interactive activities during the week were associated with increased risk of developmental delay among low-income families (Reading odds ratio [OR] 1.57, 95% confidence interval [CI] 1.15–2.13; Singing songs/Telling Stories OR 1.66, 95% CI 1.15–2.40; Outings OR 1.48, 95% CI 1.11–1.97). CONCLUSIONS: Despite evidence emphasizing the protective effects of supportive parenting practices on early child development, our work demonstrates significant disparities in parenting practices that promote early child development between economically advantaged and disadvantaged parents. Innovative population-level strategies that enrich parenting practices for vulnerable children in early childhood are needed. PMID:26216325

  1. Developmental amnesia and its relationship to degree of hippocampal atrophy

    PubMed Central

    Isaacs, E. B.; Vargha-Khadem, F.; Watkins, K. E.; Lucas, A.; Mishkin, M.; Gadian, D. G.

    2003-01-01

    Two groups of adolescents, one born preterm and one with a diagnosis of developmental amnesia, were compared with age-matched normal controls on measures of hippocampal volume and memory function. Relative to control values, the preterm group values showed a mean bilateral reduction in hippocampal volume of 8–9% (ranging to 23%), whereas the developmental amnesic group values showed a reduction of 40% (ranging from 27% to 56%). Despite equivalent IQ and immediate memory scores in the two study groups, there were marked differences between them on a wide variety of verbal and visual delayed memory tasks. Consistent with their diagnosis, the developmental amnesic group was impaired relative to both other groups on nearly all delayed memory measures. The preterm group, by contrast, was significantly impaired relative to the controls on only a few memory measures, i.e., route following and prospective memory. We suggest that early hippocampal pathology leads to the disabling memory impairments associated with developmental amnesia when the volume of this structure is reduced below normal by ≈20–30% on each side. Whether this is a sufficient condition for the disorder or whether abnormality in other brain regions is also necessary remains to be determined. PMID:14555756

  2. 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. PMID:26671332

  3. [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

  4. Time-Delay Interferometry

    NASA Astrophysics Data System (ADS)

    Dhurandhar, Sanjeev V.; Tinto, Massimo

    2005-07-01

    Equal-arm interferometric detectors of gravitational radiation allow phase measurements many orders of magnitude below the intrinsic phase stability of the laser injecting light into their arms. This is because the noise in the laser light is common to both arms, experiencing exactly the same delay, and thus cancels when it is differenced at the photo detector. In this situation, much lower level secondary noises then set the overall performance. If, however, the two arms have different lengths (as will necessarily be the case with space-borne interferometers), the laser noise experiences different delays in the two arms and will hence not directly cancel at the detector. In order to solve this problem, a technique involving heterodyne interferometry with unequal arm lengths and independent phase-difference readouts has been proposed. It relies on properly time-shifting and linearly combining independent Doppler measurements, and for this reason it has been called Time-Delay Interferometry (TDI). This article provides an overview of the theory and mathematical foundations of TDI as it will be implemented by the forthcoming space-based interferometers such as the Laser Interferometer Space Antenna (LISA) mission. We have purposely left out from this first version of our "Living Review" article on TDI all the results of more practical and experimental nature, as well as all the aspects of TDI that the data analysts will need to account for when analyzing the LISA TDI data combinations. Our forthcoming "second edition" of this review paper will include these topics.

  5. 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

  6. 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

  7. The domain of developmental psychopathology.

    PubMed

    Sroufe, L A; Rutter, M

    1984-02-01

    It is the "developmental" component of developmental psychopathology that distinguishes this discipline from abnormal psychology, psychiatry, and even clinical child psychology. At the same time, the focus on individual patterns of adaptation and maladaptation distinguishes this field from the larger discipline of developmental psychology. In this essay a developmental perspective is presented, and the implications of this perspective for research in developmental psychopathology are discussed. A primary consideration is the complexity of the adaptational process, with developmental transformation being the rule. Thus, links between earlier adaptation and later pathology generally will not be simple or direct. It will be necessary to understand both individual patterns of adaptation with respect to salient issues of a given developmental period and the transaction between prior adaptation, maturational change, and subsequent environmental challenges. Some examples are discussed, with special attention to the case of depression. PMID:6705619

  8. 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

  9. 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 ...

  10. Tooth formation - delayed or absent

    MedlinePlus

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

  11. Quantifying tumour heterogeneity with CT

    PubMed Central

    Miles, Kenneth A.

    2013-01-01

    Abstract Heterogeneity is a key feature of malignancy associated with adverse tumour biology. Quantifying heterogeneity could provide a useful non-invasive imaging biomarker. Heterogeneity on computed tomography (CT) can be quantified using texture analysis which extracts spatial information from CT images (unenhanced, contrast-enhanced and derived images such as CT perfusion) that may not be perceptible to the naked eye. The main components of texture analysis can be categorized into image transformation and quantification. Image transformation filters the conventional image into its basic components (spatial, frequency, etc.) to produce derived subimages. Texture quantification techniques include structural-, model- (fractal dimensions), statistical- and frequency-based methods. The underlying tumour biology that CT texture analysis may reflect includes (but is not limited to) tumour hypoxia and angiogenesis. Emerging studies show that CT texture analysis has the potential to be a useful adjunct in clinical oncologic imaging, providing important information about tumour characterization, prognosis and treatment prediction and response. PMID:23545171

  12. 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.

  13. Programmable Differential Delay Circuit With Fine Delay Adjustment

    DOEpatents

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

    2002-07-09

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

  14. Adaptive Phase Delay Generator

    NASA Technical Reports Server (NTRS)

    Greer, Lawrence

    2013-01-01

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

  15. Vehicle barrier with access delay

    DOEpatents

    Swahlan, David J; Wilke, Jason

    2013-09-03

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

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

    EPA Science Inventory

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

  17. Delayed rule following

    PubMed Central

    Schmitt, David R.

    2001-01-01

    Although the elements of a fully stated rule (discriminative stimulus [SD], some behavior, and a consequence) can occur nearly contemporaneously with the statement of the rule, there is often a delay between the rule statement and the SD. The effects of this delay on rule following have not been studied in behavior analysis, but they have been investigated in rule-like settings in the areas of prospective memory (remembering to do something in the future) and goal pursuit. Discriminative events for some behavior can be event based (a specific setting stimulus) or time based. The latter are more demanding with respect to intention following and show age-related deficits. Studies suggest that the specificity with which the components of a rule (termed intention) are stated has a substantial effect on intention following, with more detailed specifications increasing following. Reminders of an intention, too, are most effective when they refer specifically to both the behavior and its occasion. Covert review and written notes are two effective strategies for remembering everyday intentions, but people who use notes appear not to be able to switch quickly to covert review. By focusing on aspects of the setting and rule structure, research on prospective memory and goal pursuit expands the agenda for a more complete explanation of rule effects. PMID:22478363

  18. PARAMETERS FOR QUANTIFYING BEAM HALO

    SciTech Connect

    C.K. ALLEN; T.P. WANGLER

    2001-06-01

    Two different parameters for the quantitative description of beam halo are introduced, both based on moments of the particle distribution. One parameter is a measure of spatial halo formation and has been defined previously by Wangler and Crandall [3], termed the profile parameter. The second parameter relies on kinematic invariants to quantify halo formation in phase space; we call it the halo parameter. The profile parameter can be computed from experimental beam profile data. The halo parameter provides a theoretically more complete description of halo in phase space, but is difficult to obtain experimentally.

  19. Negative regulation and developmental competence in Aspergillus

    PubMed Central

    Lee, Mi-Kyung; Kwon, Nak-Jung; Lee, Im-Soon; Jung, Seunho; Kim, Sun-Chang; Yu, Jae-Hyuk

    2016-01-01

    Asexual development (conidiation) in the filamentous fungus Aspergillus nidulans is governed by orchestrated gene expression. The three key negative regulators of conidiation SfgA, VosA, and NsdD act at different control point in the developmental genetic cascade. Here, we have revealed that NsdD is a key repressor affecting the quantity of asexual spores in Aspergillus. Moreover, nullifying both nsdD and vosA results in abundant formation of the development specific structure conidiophores even at 12 h of liquid culture, and near constitutive activation of conidiation, indicating that acquisition of developmental competence involves the removal of negative regulation exerted by both NsdD and VosA. NsdD’s role in repressing conidiation is conserved in other aspergilli, as deleting nsdD causes enhanced and precocious activation of conidiation in Aspergillus fumigatus or Aspergillus flavus. In vivo NsdD-DNA interaction analyses identify three NsdD binding regions in the promoter of the essential activator of conidiation brlA, indicating a direct repressive role of NsdD in conidiation. Importantly, loss of flbC or flbD encoding upstream activators of brlA in the absence of nsdD results in delayed activation of brlA, suggesting distinct positive roles of FlbC and FlbD in conidiation. A genetic model depicting regulation of conidiation in A. nidulans is presented. PMID:27364479

  20. Cancer and developmental exposure to endocrine disruptors.

    PubMed Central

    Birnbaum, Linda S; Fenton, Suzanne E

    2003-01-01

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