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The diagnosis of autism spectrum disorder (ASD) brings a lifetime of considerations for individuals and their families. The core symptoms of ASD vary in severity and influence behavior and function across all environments. Co-occurring medical, mental health, cognitive, language, learning, and behavioral differences add challenges to those associated with core symptoms. Navigating the preschool, school, and transition ages in the educational setting requires continual reassessment of the strengths, weaknesses, and needs of the student to provide appropriate placement and services.

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INTRODUCTION: There is an extensive body of research regarding neurological outcomes following neonatal hypoxic-ischemic encephalopathy (HIE) treated with therapeutic hypothermia (TH), with limited data on growth outcomes. We examined perinatal characteristics associated with postnatal growth in this population. METHODS: Convenience cohort of 66 infants with HIE who underwent TH and participated in follow-up at 24 months of age were included. Regression modeling including perinatal anthropomorphics, markers of HIE, and systemic injury was used to evaluate growth at 24 months. RESULTS: Birth head circumference was associated with weight (p = 0.036). MRI severity, pH at admission and birth head circumference were associated with height (p = 0.043, p = 0.015 and p = 0.043 respectively). MRI severity and length of intubation were associated with head circumference (p = 0.038 and p < 0.001 respectively). CONCLUSION: There was a significant association between specific early factors and growth at 24 months among infants with HIE treated with TH.

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To support decision-making in the primary care medical home, this clinical report links preterm birth and perinatal complications to early childhood developmental disability risks. It consolidates extensive contemporary outcome research from 2005 onward into an easy-to-use framework and stratifies prematurity and NICU experiences by degree of risk for developmental impairments. This framework informs and prioritizes point-of-care screening and surveillance strategies for pediatricians caring for children born preterm, guides additional assessment and referral for appropriate therapies, and offers opportunities for reassurance (when applicable) in office settings.

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Background: The COVID-19 pandemic uniquely affects patients with neurologic and developmental disabilities at the Kennedy Krieger Institute. These patients are at increased risk of co-morbidities, increasing their risk of contracting COVID-19. Disruptions in their home and school routines, and restrictions accessing crucial healthcare services has had a significant impact. Methods: A Pandemic Intake questionnaire regarding COVID-19 related medical concerns of guardians of patients was distributed using Qualtrics. Data from May-December 2020 were merged with demographic information of patients from 10 clinics (Center for Autism and Related Disorders (CARD), Neurology, Epigenetics, Neurogenetics, Center for Development and Learning (CDL) Sickle Cell, Spinal Cord, Sturge-Weber syndrome (SWS), Tourette's, and Metabolism). A provider feedback survey was distributed to program directors to assess the effectiveness of this intervention. Results: Analysis included responses from 1643 guardians of pediatric patients (mean age 9.5 years, range 0-21.6 years). Guardians of patients in more medically complicated clinics reported perceived increased risk of COVID-19 (p < 0.001) and inability to obtain therapies (p < 0.001) and surgeries (p < 0.001). Guardian responses from CARD had increased reports of worsening behavior (p = 0.01). Providers increased availability of in-person and virtual therapies and visits and made referrals for additional care to address this. In a survey of medical providers, five out of six program directors who received the responses to this survey found this questionnaire helpful in caring for their patients. Conclusion: This quality improvement project successfully implemented a pre-visit questionnaire to quickly assess areas of impact of COVID-19 on patients with neurodevelopmental disorders. During the pandemic, results identified several major areas of impact, including patient populations at increased risk for behavioral changes, sleep and/or disruptions of medical care. Most program directors reported improved patient care as a result.

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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 the degree to which children with disabilities did not receive the special education and related services defined in their individualized education program (IEP). Methods: Patients attending an outpatient tertiary care center for neurodevelopmental disabilities in Maryland were surveyed on the impact of the pandemic on educational services provision. Results: Nearly half (46%) of respondents qualified for special education and related services through an IEP before the start of the COVID-19 pandemic. Among those with IEPs, 48% attested to reduced frequency and/or duration of special education and/or related services during the pandemic. The reduction was greatest in occupational therapy services (47%), followed physical therapy services (46%), and special education services (34%). Conclusion: This survey of children with disabilities observes a substantial reduction in IEP services reported in their completed surveys. To address the observed reduction in IEP services, we sought additional education for clinicians on the rights of students with disabilities in anticipation of students' re-entry to the classroom. A special education law attorney provided an instructional session on compensatory education and recovery services to prepare clinicians to properly inform parents about their rights and advocate for patients with unmet IEP services during the pandemic.

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Attention-deficit/hyperactivity disorder (ADHD) is the most prevalent neurobehavioral disorder in childhood. The major components of this disorder are developmentally inappropriate levels of inattention and hyperactivity/impulsivity, which result in functional impairment in 1 or more areas of academic, social, and emotional function. In addition to the propensity for children to have some compromise of academic and emotional function, children with ADHD also have a higher frequency of co-occurring learning, cognitive, language, motor, and mental health disorders. Similarly, children with developmental disorders have a higher risk of co-occurring ADHD. The diagnosis of ADHD can be ascertained by a review of the risks for the condition, consideration of masquerading conditions, a careful history and physical examination, and the recognition of co-occurring disorders. The signs and symptoms of co-occurring disorders and the management of ADHD differ across early childhood, middle childhood, and adolescence. Management is largely limited to behavioral and pharmacologic interventions, and it favors behavioral strategies in early childhood, pharmacologic and behavioral strategies in middle childhood, and pharmacologic interventions in adolescence. This article offers an approach to the evaluation, presentation, and management of ADHD with a focus on guiding primary care pediatricians.

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This study evaluates the effectiveness of an early childhood tele-education program in preparing community pediatric clinicians to manage developmental and mental health disorders in young children. Community pediatric clinicians from rural, underserved, or school-based health center practices in the mid-Atlantic region participated in a weekly tele-education videoconference. There was a significant knowledge gain evidenced by the percentage of questions answered correctly from pre- to post- didactic exposure (P < .001). Participants reported an increase in knowledge from pre- (P < .001) and in confidence from pre- to post- participation (P < .001). Practice management changes demonstrated an encouraging trend toward managing patients in the Medical Home, as compared with immediately deferring to specialists following participation. This early childhood tele-education videoconferencing program is a promising response to the urgent need to confidently increase the role of pediatricians in the provision of care for childhood developmental and mental health disorders.

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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 and genetic landscape of WASF1-related neurodevelopmental disorder (NDD). In this report, we describe detailed clinical characteristics of six individuals with WASF1-related NDD. We demonstrate a broader spectrum of neurodevelopmental impairment including more mildly affected individuals. Further, we report new variant types, including a copy number variant (CNV), resulting in the partial deletion of WASF1 in monozygotic twins, and three missense variants, two of which alter the same residue, p.W161. This report adds further evidence that de novo variants in WASF1 cause an autosomal dominant NDD.

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Early studies following perinatal hypoxic-ischemic encephalopathy (HIE) suggested expressive language deficits and academic difficulties, but there is only limited detailed study of language development in this population since the widespread adoption of therapeutic hypothermia (TH). Expressive and receptive language testing was performed as part of a larger battery with 45 children with a mean age of 26 months following perinatal HIE treated with TH. Overall cohort outcomes as well as the effects of gender, estimated household income, initial pH and base excess, and pattern of injury on neonatal brain MRI were assessed. The cohort overall demonstrated expressive language subscore, visual-reception subscore, and early learning composite scores significantly below test norms, with relative sparing of receptive language subscores. Poorer expressive language manifested as decreased vocabulary size and shorter utterances. Expressive language subscores showed a significant gender effect, and estimated socioeconomic status showed a significant effect on both receptive and expressive language subscores. Initial blood gas markers and modified Sarnat scoring did not show a significant effect on language subscores. Binarized MRI abnormality predicted a significant effect on both receptive and expressive language subscores; the presence of specific cortical/subcortical abnormalities predicted receptive language deficits. Overall, the language development profile of children following HIE in the era of hypothermia shows a relative strength in receptive language. Gender and socioeconomic status predominantly predict expressive language deficits; abnormalities detectable on MRI predominantly predict receptive language deficits.

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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, and relationships between diffusion tensor imaging and neurodevelopmental outcomes. METHOD: Diffusion tensor imaging was obtained for 31 neonates after hypoxic-ischemic encephalopathy treated with therapeutic hypothermia and 10 clinical controls. A subgroup of patients with hypoxic-ischemic encephalopathy (n = 14) had neurodevelopmental outcomes correlated with diffusion tensor imaging scalars. RESULTS: Group differences in diffusion tensor imaging scalars were observed in the putamen, anterior and posterior centrum semiovale, and the splenium of the corpus callosum. Differences in these regions of interest were correlated with neurodevelopmental outcomes between ages 20 and 32 months. CONCLUSION: Therapeutic hypothermia may not be a complete intervention for hypoxic-ischemic encephalopathy, as neonatal white matter changes may continue to be evident, but further research is warranted. Patterns of white matter change on neonatal diffusion tensor imaging correlated with neurodevelopmental outcomes in this exploratory pilot study.

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Scientific advances over the last century have generated compelling evidence of the primary and secondary effects of gestational, infant, and childhood conditions. These early environmental influences have the potential not only to impact an individual's health outcomes, such as heart disease, type 2 diabetes, and cancer, but also to confer various protections and risks to that individual's descendants. The immediate and extended ramifications of early environmental exposure bring an understanding of epidemiological impact on disease states and a hope for prevention. This review highlights the contributions of several key population studies and briefly explores specific environmental influences, including nutritional deficiencies, exposure to substances and infections, and adverse childhood experiences. Mechanisms of these influences (e.g. stress and epigenetics) are discussed, as well as possible means of mitigating their negative consequences. WHAT THIS PAPER ADDS: Substance exposures in utero are associated with epigenetic changes and negative outcomes. Adverse childhood experiences in early childhood can induce HPA and epigenetic changes.

INFLUENCIAS AMBIENTALES EN LA SALUD Y EL DESARROLLO: NUTRICIÓN, EXPOSICIÓN A SUSTANCIAS Y EXPERIENCIAS ADVERSAS EN LA INFANCIA: Los avances científicos en el último siglo han generado pruebas convincentes de los efectos primarios y secundarios de las condiciones de la gestación, el infante y la infancia. Estas influencias ambientales tempranas tienen el potencial no solo de afectar los resultados de salud de una persona, como la enfermedad cardíaca, la diabetes tipo 2 y el cáncer, sino también para conferir diversas protecciones y riesgos a los descendientes de esa persona. Las ramificaciones inmediatas y prolongadas de la exposición ambiental temprana permiten comprender el impacto epidemiológico en los estados de enfermedad y una esperanza de prevención. Esta revisión destaca las contribuciones de varios estudios de población clave y explora brevemente las influencias ambientales específicas, incluidas las deficiencias nutricionales, la exposición a sustancias e infecciones y las experiencias adversas en la infancia. Se discuten los mecanismos de estas influencias (por ejemplo, estrés y epigenética), así como los posibles medios para mitigar sus consecuencias negativas.

INFLUÊNCIAS AMBIENTAIS NA SAÚDE E DESENVOLVIMENTO: NUTRIÇÃO, EXPOSIÇÃO A SUBSTÂNCIAS, E EXPERIÊNCIAS ADVERSAS NA INFÂNCIA: Avanços científicos no ultimo século geraram evidência convincente de efeitos primários e secundários de condições gestacionais e da infância. Estas influências ambientais precoces tem potencial não apenas de impactar os resultados de saúde de um indivíduos, como doença cardíaca, diabetes tipo 2 e câncer, mas também conferem várias proteções e riscos para os descendentes deste indivíduo. As ramificações imediatas e extendidas da exposição ambiental precoce trazem uma compreensão do impacto epidemiológico nos estados de doença, e uma esperança de prevenção. Esta revisão destaca as contribuições de vários estudos populacionais importantes, e explora brevemente infuências ambientais específicas, incluindo deficiências nutricionais, exposição a substâncias e infecções, e experiências adversas na infância. Os mecanismos destas influências (ex: estresse e epigenética) são discutidos, assim como possíveis formas de mitigar suas consequências negativas.

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Surface protein dynamics dictate synaptic connectivity and function in neuronal circuits. ASTN2, a gene disrupted by copy number variations (CNVs) in neurodevelopmental disorders, including autism spectrum, was previously shown to regulate the surface expression of ASTN1 in glial-guided neuronal migration. Here, we demonstrate that ASTN2 binds to and regulates the surface expression of multiple synaptic proteins in postmigratory neurons by endocytosis, resulting in modulation of synaptic activity. In cerebellar Purkinje cells (PCs), by immunogold electron microscopy, ASTN2 localizes primarily to endocytic and autophagocytic vesicles in the cell soma and in subsets of dendritic spines. Overexpression of ASTN2 in PCs, but not of ASTN2 lacking the FNIII domain, recurrently disrupted by CNVs in patients, including in a family presented here, increases inhibitory and excitatory postsynaptic activity and reduces levels of ASTN2 binding partners. Our data suggest a fundamental role for ASTN2 in dynamic regulation of surface proteins by endocytic trafficking and protein degradation.

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PURPOSE: Across various health conditions and geographic regions, there remains a dearth of clinicians with the expertise and confidence to identify and manage children with disabilities. At the front line of this crisis are clinician-educators, who are tasked with caring for these unique patients and with training the future workforce. Balancing patient care and clinical instruction responsibilities is particularly challenging when trainees of varied educational levels and specialties report simultaneously. The lack of a standard curriculum further compounds the clinician-educator's teaching demands and threatens the consistency of trainees' learning. Recognizing these challenges in their work in a neonatal follow-up clinic, the authors sought a solution through an established curriculum development process. MATERIALS AND METHODS: A needs assessment survey was conducted to gauge medical trainees' knowledge, skills, and experiences. Applying needs assessment findings, the authors developed a curriculum, which was administered online to several trainee cohorts just prior to rotations in the neonatal follow-up clinic. RESULTS: After completing the curriculum, trainees scored significantly higher on neonatal follow-up knowledge tests. CONCLUSIONS: Providing advance exposure helped to ensure that trainees arrived with comparable basal knowledge, which served as a foundation for more advanced instruction. This curricular approach may be useful across teaching venues, especially those with multi-level or multi-discipline learners.

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We examined longitudinal neurodevelopmental outcomes in a series of infants with microcephaly. Retrospective review identified neonatal intensive care unit follow-up clinic patients with a diagnostic code of microcephaly, verified by head circumference less than the fifth precentile (WHO growth curves). Data were collected regarding clinical history and developmental assessments by Capute Scales and gross motor age equivalent. Developmental Quotient (DQ) was age adjusted up until 2 years for preterm infants. Twenty-two infants had microcephaly. At latest follow-up (3-66 months, mean 27.2), 73% had delay (DQ < 70) in ≥1 area of development: gross motor 65% (mean DQ 56.8), visual-motor 59% (mean DQ 62.7), and language 59% (mean DQ 65.9). In this sample, postnatal onset and diagnosis of epilepsy were associated with lower DQs. We conclude that infants with microcephaly are at significant risk for delay across all aspects of development and for long-term disability. Postnatal etiologies of microcephaly and infants with comorbid epilepsy had worse outcomes.

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Parental concerns are useful tools to help pediatric care providers identify the presence of developmental and behavioral problems. This study sought to learn whether specific parental concerns helped predict diagnoses in a tertiary developmental clinic. Parents of preschoolers who attended a preschool developmental clinic (n = 101) were surveyed about behavioral and developmental concerns and their concerns about possible diagnoses. Clinical diagnoses were subsequently obtained on all children and compared with parents' primary concerns. In our sample, approximately 50% of concerns were about language development and 21% about behavior. The most common diagnoses were communication disorder (41%) and developmental delay (42%). Only 30% of children whose parents had concerns about an autism spectrum diagnosis had actually received that diagnosis. Neither parental concerns about development and behavior nor their concerns about specific diagnosis predict clinical diagnosis in our tertiary developmental setting.

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AIMS: This study explores disparities in identification of educationally relevant comorbidities and medication prescribing practices for children with attention-deficit hyperactivity disorder (ADHD) and either comprehensive neurodevelopmental evaluations or evaluations limited by insurance to behavior management with medication. METHODS: This study was a retrospective chart review of 5- to 10-year-old children with ADHD diagnosed at the initial evaluation. Data collected included demographics, rates of comorbid conditions, medication management, and educational interventions. RESULTS: The 2 groups were similar in age, educational supports, and medication management. The group with insurance permitting comprehensive evaluations was more likely to be Caucasian, have higher parental education levels, and have more comorbid conditions identified with academic impact. CONCLUSIONS: School-aged children with ADHD are likely to receive similar educational and medication management despite differences in evaluations. However, our data suggest that children who received comprehensive evaluations had greater identification of comorbid conditions that may influence academic, behavioral, and social outcomes.

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The Capute Scales is a 100-item developmental assessment tool to quantitatively measure expressive and receptive language and nonverbal problem-solving skills in infants from birth to 3 years of age. The present multisite study standardized the instrument on a population of 1055 typically developing children balanced for age, sex, and race and generated normative tables to document the instrument's utility. There were no significant performance differences by race or sex. The achieved age levels for individual test items and for total scores were accurately predicted by the age levels assigned to the test items. The conversion of age levels to standard scores was found to be unnecessary because the developmental quotients derived from age ratios did not differ significantly from the derived scores.

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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) and non IUDE-exposed children (n=33) at age 4 years. Mean IQ or school readiness scores did not significantly differ by IUDE exposure; however, both groups scored approximately 1 standard deviation below the mean for both IQ and school readiness skills. The IUDE group earned a significantly higher mean score (thereby performing poorer) than the nonexposed group on focusing and inattentive behavior. Factors associated with poor school readiness skills for all children (IUDE exposed and nonexposed) were not attending a preschool program and lower caregiver education level. Assuring high-risk children are identified and referred for early intervention services as well as treated for inattention behavior is crucial for their academic success.

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