A5085475507- Neonatal and fetal brain pathology
- Neonatal Respiratory Health Research
- Infant Development and Preterm Care
- Child and Adolescent Psychosocial and Emotional Development
- Fetal and Pediatric Neurological Disorders
- Family and Disability Support Research
- Prenatal Substance Exposure Effects
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Child and Adolescent Health
- Cerebral Palsy and Movement Disorders
- Neonatal Health and Biochemistry
- Neuroscience of respiration and sleep
- Infant Health and Development
- Dialysis and Renal Disease Management
- Adolescent and Pediatric Healthcare
- Children's Physical and Motor Development
- Birth, Development, and Health
- Maternal Mental Health During Pregnancy and Postpartum
- Diverse Education Studies and Reforms
- Chronic Kidney Disease and Diabetes
- Attention Deficit Hyperactivity Disorder
- Cellular transport and secretion
- Long-Term Effects of COVID-19
- Language Development and Disorders
Johns Hopkins Medicine
2014-2025
Kennedy Krieger Institute
2015-2025
Johns Hopkins University
2014-2025
Significance Neurogenetic studies demonstrate that copy number variations (CNVs) in the ASTN2 gene occur patients with neurodevelopmental disorders (NDDs), including autism spectrum. Here, we show associates recycling and degradative vesicles cerebellar neurons, binds to promotes endocytic trafficking degradation of synaptic proteins. Overexpression neurons increases activity reduces levels binding partners, an effect dependent on its FNIII domain, which is recurrently perturbed by CNVs...
Long COVID affects a significant number of children, yet clinician knowledge gaps and limited access to specialized care hinder effective management. With fewer than 20 pediatric long clinics in the United States, many families must travel distances for care. To address these challenges, ECHO (Extension Community Healthcare Outcomes) program was developed educate health professionals on evidence-based The engaged 94 participants from States Canada via weekly tele-education sessions,...
Early studies following perinatal hypoxic-ischemic encephalopathy (HIE) suggested expressive language deficits and academic difficulties, but there is only limited detailed study of development in this population since the widespread adoption therapeutic hypothermia (TH). Expressive receptive testing was performed as part a larger battery with 45 children mean age 26 months HIE treated TH. Overall cohort outcomes well effects gender, estimated household income, initial pH base excess,...
We describe the clinical phenotype in four males from three families with duplication (X)(qter→q27::p22.3→qter). This is an unusual of distal long arm segment, Xq27-qter, onto short X chromosome at Xp22.3, as shown by fluorescent situ hybridization analysis multiple X-specific probes. The patients are young male offspring unrelated, phenotypically normal carrier women. affected have similar manifestations including severe growth retardation and developmental delay, axial hypotonia, minor...
We examined longitudinal neurodevelopmental outcomes in a series of infants with microcephaly. Retrospective review identified neonatal intensive care unit follow-up clinic patients diagnostic code microcephaly, verified by head circumference less than the fifth precentile (WHO growth curves). Data were collected regarding clinical history and developmental assessments Capute Scales gross motor age equivalent. Developmental Quotient (DQ) was adjusted up until 2 years for preterm infants....
In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum genetic landscape WASF1-related neurodevelopmental disorder (NDD). this report, we describe detailed clinical characteristics six individuals with NDD. We demonstrate a broader impairment...
Purpose The COVID-19 pandemic created novel challenges for school systems and students, particularly students with disabilities. In the shift to remote/distance learning, this report explores degree which children disabilities did not receive special education related services defined in their individualized program (IEP). Methods Patients attending an outpatient tertiary care center neurodevelopmental Maryland were surveyed on impact of educational provision. Results Nearly half (46%)...
Data are presented on 157 newborn infants followed sequentially in a randomized home-based nursing-intervention trial for drug-exposed with follow up at 3 (N=118), 6 (N=124), and 12 months (N=77). The objectives of this study were to describe the longitudinal neurodevelopmental status cohort children intrauterine exposure illicit drugs during their gestation, characterize evolution early tone abnormalities polydrug-exposed cohort, determine whether neuromotor outcome is associated...
Aim: Hypoxic-ischemic encephalopathy is associated with damage to deep gray matter; however, white matter involvement has become recognized. This study explored differences between patients and clinical controls on diffusion tensor imaging, relationships imaging neurodevelopmental outcomes. Method: Diffusion was obtained for 31 neonates after hypoxic-ischemic treated therapeutic hypothermia 10 controls. A subgroup of (n = 14) had outcomes correlated scalars. Results: Group in scalars were...
The early identification of communication disorders and mental retardation necessitates an assessment measure that differentiates these two in infancy childhood. Cognitive Adaptive Test/Clinical Linguistic Auditory Milestone Scale (CAT/CLAMS) was devised to diagnose global cognitive delay language by evaluating problem-solving skills independently. It does so efficient accurate manner type degree delay. use CAT/CLAMS is well established populations children thought be either delayed or at...
The Capute Scales is a 100-item developmental assessment tool to quantitatively measure expressive and receptive language nonverbal problem-solving skills in infants from birth 3 years of age. present multisite study standardized the instrument on population 1055 typically developing children balanced for age, sex, race generated normative tables document instrument's utility. There were no significant performance differences by or sex. achieved age levels individual test items total scores...
Parental concerns are useful tools to help pediatric care providers identify the presence of developmental and behavioral problems. This study sought learn whether specific parental helped predict diagnoses in a tertiary clinic. Parents preschoolers who attended preschool clinic (n = 101) were surveyed about their possible diagnoses. Clinical subsequently obtained on all children compared with parents' primary concerns. In our sample, approximately 50% language development 21% behavior. The...
This study evaluates the effectiveness of an early childhood tele-education program in preparing community pediatric clinicians to manage developmental and mental health disorders young children. Community from rural, underserved, or school-based center practices mid-Atlantic region participated a weekly videoconference. There was significant knowledge gain evidenced by percentage questions answered correctly pre- post- didactic exposure ( P < .001). Participants reported increase .001)...
AIM: Reliable and valid screening assessment tools are necessary to identify children at risk for neurodevelopmental disabilities who may require additional services. This study evaluated the test-retest reliability of Capute Scales in a high-risk sample, hypothesizing adequate across 6- 12-month intervals. METHODS: scores (N = 66) were collected via retrospective chart review from NICU follow-up clinic within large urban medical center spanning three age-ranges: 12–18, 19–24, 25–36 months....
Aims. This study explores disparities in identification of educationally relevant comorbidities and medication prescribing practices for children with attention-deficit hyperactivity disorder (ADHD) either comprehensive neurodevelopmental evaluations or limited by insurance to behavior management medication. Methods. was a retrospective chart review 5- 10-year-old ADHD diagnosed at the initial evaluation. Data collected included demographics, rates comorbid conditions, management,...
Children with in-utero drug exposure (IUDE) may be at risk for poor neurodevelopmental outcomes. The objective of this study was to determine the association between IQ school readiness skills, and self-regulation behavior in IUDE children (n=103) non IUDE-exposed (n=33) age 4 years. Mean or scores did not significantly differ by exposure; however, both groups scored approximately 1 standard deviation below mean skills. group earned a higher score (thereby performing poorer) than nonexposed...
ABSTRACT Previous studies of children with in-utero drug exposure (IUDE) raise concerns that decreased head circumference (HC) at birth increases the child's risk for later compromised cognitive functioning. The purpose this study was to determine if HC and growth change are associated functioning (IQ) 36 months age in IUDE. In-utero exposed infants (N = 204) identified following delivery two urban hospitals were compared a group non-exposed 34) matched maternal age, gestational...