Developmental Disabilities

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  Subject Areas on Research

  • 10-year research update review: the epidemiology of child and adolescent psychiatric disorders: II. Developmental epidemiology. 
  • A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. 
  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 
  • A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. 
  • A construct validity study of the Missouri Children's Behavior Checklist with developmentally disabled children. 
  • A copy number variation morbidity map of developmental delay. 
  • A model interdisciplinary diagnostic and treatment nursery. 
  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. 
  • A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. 
  • ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. 
  • Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. 
  • Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. 
  • Affecting the planning and implementation of developmental services for children and adults with HIV infection. 
  • Aggressive vs. conservative phototherapy for infants with extremely low birth weight. 
  • Alternating hemiplegia of childhood. 
  • Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. 
  • Amygdalar volume and behavioral development in autism. 
  • An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. 
  • Angelman syndrome: are the estimates too low? 
  • Are outcomes of extremely preterm infants improving? Impact of Bayley assessment on outcomes. 
  • Association of antenatal corticosteroids with mortality and neurodevelopmental outcomes among infants born at 22 to 25 weeks' gestation. 
  • Associations between child disabilities and caregiver discipline and violence in low- and middle-income countries. 
  • Associations between parental broader autism phenotype and child autism spectrum disorder phenotype in the Study to Explore Early Development. 
  • Autism and developmental disability caused by KCNQ3 gain-of-function variants. 
  • Autism or a related developmental disability. 
  • Automated Detection of Repetitive Motor Behaviors as an Outcome Measurement in Intellectual and Developmental Disabilities. 
  • Before viability: a geographically based outcome study of infants weighing 500 grams or less at birth. 
  • Behavior classification system for children with developmental, psychiatric, and chronic medical problems. 
  • Behavioral Problems and Socioemotional Competence at 18 to 22 Months of Extremely Premature Children. 
  • Behavioral characteristics of very-low-birth-weight infants of varying biologic risk at 6, 15, and 24 months of age. 
  • Behavioral problems are associated with cognitive and language scores in toddlers born extremely preterm. 
  • Behavioral side effects of gabapentin in children. 
  • Between-hospital variation in treatment and outcomes in extremely preterm infants. 
  • Biotin-responsive basal ganglia disease: case report and review of the literature. 
  • Birth asphyxia survivors in a developing country. 
  • Brain malformation and infantile spasms in a SCAD deficiency patient. 
  • Brain research to ameliorate impaired neurodevelopment--home-based intervention trial (BRAIN-HIT). 
  • Cerebellar vermal volumes and behavioral correlates in children with autism spectrum disorder. 
  • Childhood outcomes after hypothermia for neonatal encephalopathy. 
  • Choroid plexus-ventricular wall separation in fetuses with normal-sized cerebral ventricles at sonography: postnatal outcome. 
  • Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. 
  • Clinical experience with array CGH: case presentations from nine months of practice. 
  • Clinical seizures in neonatal hypoxic-ischemic encephalopathy have no independent impact on neurodevelopmental outcome: secondary analyses of data from the neonatal research network hypothermia trial. 
  • Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 
  • Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. 
  • Closing the gaps: developmental psychopathology as a training model for clinical child psychology. 
  • Cognitive and social cognitive development of depressed children and adolescents. 
  • Consensus on postnatal deficits: comparability of human and animal findings. 
  • Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study. 
  • Corpus callosum morphometrics in young children with autism spectrum disorder. 
  • Correlates of mother-premature infant interactions. 
  • Critical prenatal and postnatal periods for persistent effects of dexamethasone on serotonergic and dopaminergic systems. 
  • DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD DC:0-5: SELECTIVE REVIEWS FROM A NEW NOSOLOGY FOR EARLY CHILDHOOD PSYCHOPATHOLOGY. 
  • De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 
  • De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 
  • De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 
  • De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay. 
  • De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23). 
  • Delineation of children's behavior problems: a basis for assessment and intervention. 
  • Demographics, family history, premorbid functioning, developmental characteristics, and course of patients with deteriorated affective disorder. 
  • Developmental Delays in Executive Function from 3 to 5 Years of Age Predict Kindergarten Academic Readiness. 
  • Developmental and neurologic sequelae of neonatal hyperviscosity syndrome. 
  • Developmental care for premature infants: a state of mind. 
  • Developmental change in the ERP responses to familiar faces in toddlers with autism spectrum disorders versus typical development. 
  • Developmental outcome of very low birth weight infants at four years of age as a function of biological risk and psychosocial risk. 
  • Developmental outcomes of extremely preterm infants born to adolescent mothers. 
  • Developmental outcomes of infants with bronchopulmonary dysplasia: comparison with other medically fragile infants. 
  • Developmental problems and interactions between mothers and prematurely born children. 
  • Developmental psychopathology and public health: past, present, and future. 
  • Developmental trajectories of executive functions in young males with fragile X syndrome. 
  • Developmental trajectories of externalizing and internalizing behaviors: factors underlying resilience in physically abused children. 
  • Developmental transitions to psychopathology: are there prodromes of substance use disorders? 
  • Developmental traumatology: the psychobiological development of maltreated children and its implications for research, treatment, and policy. 
  • Disengagement of visual attention in infancy is associated with emerging autism in toddlerhood. 
  • Does labor influence neonatal and neurodevelopmental outcomes of extremely-low-birth-weight infants who are born by cesarean delivery? 
  • Dose of early intervention treatment during children's first 36 months of life is associated with developmental outcomes: an observational cohort study in three low/low-middle income countries. 
  • Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome. 
  • Early childhood growth and development in rural Guatemala. 
  • Early developmental outcome in children with hypoplastic left heart syndrome and related anomalies: the single ventricle reconstruction trial. 
  • Early social attention impairments in autism: social orienting, joint attention, and attention to distress. 
  • Editorial: Developmental neuroscience comes of age. 
  • Effect of Therapeutic Hypothermia Initiated After 6 Hours of Age on Death or Disability Among Newborns With Hypoxic-Ischemic Encephalopathy: A Randomized Clinical Trial. 
  • Effect of depth and duration of cooling on deaths in the NICU among neonates with hypoxic ischemic encephalopathy: a randomized clinical trial. 
  • Effect of inborn vs. outborn delivery on neurodevelopmental outcomes in infants with hypoxic-ischemic encephalopathy: secondary analyses of the NICHD whole-body cooling trial. 
  • Elaboration on premorbid intellectual performance in schizophrenia: premorbid intellectual decline and risk for schizophrenia. 
  • Epidemiology of psychiatric disability in childhood and adolescence. 
  • Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families. 
  • Evidence for early-childhood, pan-developmental impairment specific to schizophreniform disorder: results from a longitudinal birth cohort. 
  • Evolution of encephalopathy during whole body hypothermia for neonatal hypoxic-ischemic encephalopathy. 
  • Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 
  • Eye Tracking Reveals Impaired Attentional Disengagement Associated with Sensory Response Patterns in Children with Autism. 
  • Factors associated with neurodevelopment for children with single ventricle lesions. 
  • Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect. 
  • Feasibility of autologous cord blood cells for infants with hypoxic-ischemic encephalopathy. 
  • First, do no harm. 
  • Food allergies affect growth in children. 
  • Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. 
  • Further clinical and molecular delineation of the 15q24 microdeletion syndrome. 
  • Gender, ethnicity, and the interactions of prematurely born children and their mothers. 
  • Genes, environments, and developmental research: methods for a multi-site study of early substance abuse. 
  • Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 
  • Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 
  • Gray and white matter brain chemistry in young children with autism. 
  • Guidelines for developmental neurotoxicity and their impact on organophosphate pesticides: a personal view from an academic perspective. 
  • HOME inventory and NCATS: relation to mother and child behaviors during naturalistic observations. Home Observation for Measurement of the Environment. Nursing Child Assessment Teaching Scale. 
  • Head circumference as an early predictor of autism symptoms in younger siblings of children with autism spectrum disorder. 
  • Head growth and developmental outcome in very low-birth-weight infants. 
  • High-risk preterm infants at 3 years of age: parental response to the presence of developmental problems. 
  • Home surveillance program prevents interstage mortality after the Norwood procedure. 
  • How to target infants at highest risk for developmental delay. 
  • Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. 
  • Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome. 
  • Improved neurodevelopmental outcomes following long-term high-dose oral acyclovir therapy in infants with central nervous system and disseminated herpes simplex disease. 
  • Improved survival and neurodevelopmental outcomes among extremely premature infants born near the limit of viability. 
  • Influence of acidosis, hypoxemia, and hypotension on neurodevelopmental outcome in very low birth weight infants. 
  • Influence of gestational age on death and neurodevelopmental outcome in premature infants with severe intracranial hemorrhage. 
  • Influenza vaccination practices of physicians and caregivers of children with neurologic and neurodevelopmental conditions - United States, 2011-12 influenza season. 
  • Intelligence and adaptive function in children diagnosed with brain tumour during infancy. 
  • Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. 
  • Language ability predicts the development of behavior problems in children. 
  • Long-term morbidities associated with vocal cord paralysis after surgical closure of a patent ductus arteriosus in extremely low birth weight infants. 
  • Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series. 
  • Maternal metabolic risk factors for autism spectrum disorder-An analysis of electronic medical records and linked birth data. 
  • Missouri Children's Behavior Checklist profiles with developmentally disabled children: construct validity. 
  • Motor developmental delay in a healthy 11-month-old infant. 
  • Multidimensional problems and findings in developmentally disabled children. 
  • Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. 
  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 
  • Necrotizing enterocolitis in infants with periventricular hemorrhagic infarction: associations and outcomes. 
  • Neonatal candidiasis among extremely low birth weight infants: risk factors, mortality rates, and neurodevelopmental outcomes at 18 to 22 months. 
  • Neurodevelopment in children with single-suture craniosynostosis and plagiocephaly without synostosis. 
  • Neurodevelopmental Impairment Among Extremely Preterm Infants in the Neonatal Research Network. 
  • Neurodevelopmental delays in children with deformational plagiocephaly. 
  • Neurodevelopmental outcome of extremely low birth weight infants with Candida infection. 
  • Neurodevelopmental outcome of infants with unilateral or bilateral periventricular hemorrhagic infarction. 
  • Neurodevelopmental outcomes after cardiac surgery in infancy. 
  • Neurodevelopmental outcomes among extremely premature infants with linear growth restriction. 
  • Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. 
  • Neurodevelopmental outcomes in infants requiring resuscitation in developing countries. 
  • Neurodevelopmental outcomes in the early CPAP and pulse oximetry trial. 
  • Neurodevelopmental screening in toddlers and early preschoolers with sickle cell disease. 
  • Neuroimaging and neurodevelopmental outcome in extremely preterm infants. 
  • Neurologic sequelae in the survivors of neonatal intraventricular hemorrhage. 
  • New functions and signaling mechanisms for the class of adhesion G protein-coupled receptors. 
  • Outcome in children with fetal mild ventriculomegaly: a case series. 
  • Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age. 
  • Outcome of extremely preterm infants (<1,000 g) with congenital heart defects from the National Institute of Child Health and Human Development Neonatal Research Network. 
  • Outcomes of preterm infants treated with hypothermia for hypoxic-ischemic encephalopathy. 
  • PaCO2 in surfactant, positive pressure, and oxygenation randomised trial (SUPPORT). 
  • Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient. 
  • Parent preferences for neurodevelopmental screening in the neonatal intensive care unit. 
  • Parenting stress and psychological functioning among mothers of preschool children with autism and developmental delay. 
  • Parenting the prematurely born child. 
  • Patterns of behavioral disturbance in developmentally disabled and psychiatrically referred children: a cluster analytic approach. 
  • Patterns of behavioral disturbance in developmentally disabled children: a replicated cluster analysis. 
  • Poorer neurodevelopmental outcomes associated with cystoid macular edema identified in preterm infants in the intensive care nursery. 
  • Postnatal developmental delay and chromosomal abnormalities. 
  • Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. 
  • Predicting outcomes of neonates diagnosed with hypoxemic-ischemic encephalopathy. 
  • Prediction of lower developmental performances of healthy neonates by neonatal EEG-sleep measures. 
  • Preterm Neuroimaging and School-Age Cognitive Outcomes. 
  • Professional perceptions of children with developmental difficulties: the influence of race and socioeconomic status. 
  • Prospective treatment of urea cycle disorders. 
  • Provision of rehabilitation services for children with disabilities living in low- and middle-income countries: a scoping review. 
  • Public behavioral health care reform in North Carolina: will we get it right this time around? 
  • Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. 
  • RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 
  • Randomized trial of early developmental intervention on outcomes in children after birth asphyxia in developing countries. 
  • Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. 
  • Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. 
  • Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 
  • Regional brain chemical alterations in young children with autism spectrum disorder. 
  • Repeated autologous umbilical cord blood infusions are feasible and had no acute safety issues in young babies with congenital hydrocephalus. 
  • Risk of neonatal and childhood morbidity among preterm infants exposed to marijuana. 
  • Rule learning in autism: the role of reward type and social context. 
  • SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 
  • SSADH deficiency in an adult: Venturing outside of the diagnostic box and inside of the registry. 
  • Screening for autism spectrum disorders in extremely preterm infants. 
  • Second-hand tobacco smoke: early insights. 
  • Social-cognitive, physiological, and neural mechanisms underlying emotion regulation impairments: understanding anxiety in autism spectrum disorder. 
  • Socioeconomic Factors, Perioperative Complications, and 30-Day Readmission Rates Associated With Delayed Cranial Vault Reconstruction for Craniosynostosis. 
  • Spatial analysis of learning and developmental disorders in upper Cape Cod, Massachusetts using generalized additive models. 
  • Static and dynamic cognitive deficits in childhood preceding adult schizophrenia: a 30-year study. 
  • TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. 
  • The Broader Autism Phenotype in Mothers is Associated with Increased Discordance Between Maternal-Reported and Clinician-Observed Instruments that Measure Child Autism Spectrum Disorder. 
  • The Use of Whole Body Cooling in the Treatment of Hypoxic-Ischemic Encephalopathy. 
  • The clinical syndrome of early-life bilateral hippocampal sclerosis. 
  • The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. 
  • The link between harsh home environments and negative academic trajectories is exacerbated by victimization in the elementary school peer group. 
  • The multifaceted impact of peer relations on aggressive-disruptive behavior in early elementary school. 
  • The new look of behavioral genetics in developmental psychopathology: gene-environment interplay in antisocial behaviors. 
  • The psychobiology of neglect. 
  • Trajectories of early brain volume development in fragile X syndrome and autism. 
  • Treatment outcomes of necrotizing enterocolitis for preterm infants. 
  • Two Children with macrocephaly, developmental delay, and PTEN mutation. 
  • Two Sides of the Same Coin: Pediatric-Onset and Adult-Onset Common Variable Immune Deficiency. 
  • Tympanostomy tube outcomes in children at-risk and not at-risk for developmental delays. 
  • Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement. 
  • Use of urine alarms in toilet training children with intellectual and developmental disabilities: A review. 
  • Use of videotaped interactions during pediatric well-child care: impact at 33 months on parenting and on child development. 
  • Validation of association of the apolipoprotein E ε2 allele with neurodevelopmental dysfunction after cardiac surgery in neonates and infants. 
  • Variation in early developmental course in autism and its relation with behavioral outcome at 3-4 years of age. 
  • What is Childhood Disintegrative Disorder, how is it different from autism, and what is believed to be its cause? 
  • Whole-body hypothermia for neonates with hypoxic-ischemic encephalopathy. 
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  Keywords of People

  • Charles, Hal Cecil, Associate Professor of Radiology, Radiology
  • Dodge, Kenneth A., William McDougall Distinguished Professor of Public Policy Studies, Duke Science & Society
  • Kearney, Hutton Moore, Assistant Consulting Professor in the Department of Pathology, Pathology