Environmental influences on health and development: nutrition, substance exposure, and adverse childhood experiences.

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.

Teaching to varied disciplines and educational levels simultaneously: An innovative approach in a neonatal follow-up clinic.

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.

Addressing Pediatric Developmental and Mental Health in Primary Care Using Tele-Education.

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.

Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemic.

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.

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.

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.