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The authors examined how the COVID-19 pandemic affected the behavioral health of people with intellectual and developmental disabilities (IDD).A modified version of the Coronavirus Health Impact Survey-Adapted for Autism and Related Neurodevelopmental Conditions was sent to the authors' clinical networks and IDD-affiliated organizations from March to June 2021.In total, 437 people with IDD or their caregivers responded to the survey. Diagnoses included intellectual disability (51%) and autism spectrum disorder (48%). More than half (52%) of respondents reported worsened mental health. Losing access to services correlated with declining mental health. Interventions suggested to improve behavioral health included more time with friends and family (68%), more time outdoors (61%), and access to community activities (59%).COVID-19 affected the behavioral health of individuals with IDD. Survey results highlight the opportunity to leverage physical activity and pandemic-safe social supports as accessible means to mitigate gaps in services.

Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single-gene disorders is under-characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP.We performed comprehensive phenotyping and WES on a prospective cohort of individuals with cryptogenic CP (who meet criteria for CP; have no risk factors), non-cryptogenic CP (who meet criteria for CP; have at least one risk factor), and CP masqueraders (who could be diagnosed with CP, but have regression/progressive symptoms). We characterized motor phenotypes, ascertained medical comorbidities, and classified brain MRIs. We analyzed WES data using an institutional pipeline.We included 50 probands in this analysis (20 females, 30 males). Twenty-four had cryptogenic CP, 20 had non-cryptogenic CP, five had CP masquerader classification, and one had unknown classification. Hypotonic-ataxic subtype showed a difference in prevalence across the classification groups (p = 0.01). Twenty-six percent of participants (13/50) had a pathogenic/likely pathogenic variant in 13 unique genes (ECHS1, SATB2, ZMYM2, ADAT3, COL4A1, THOC2, SLC16A2, SPAST, POLR2A, GNAO1, PDHX, ACADM, ATL1), including one patient with two genetic disorders (ACADM, PDHX) and two patients with a SPAST-related disorder. The CP masquerader category had the highest diagnostic yield (n = 3/5, 60%), followed by the cryptogenic CP category (n = 7/24, 29%). Fifteen percent of patients with non-cryptogenic CP (n = 3/20) had a Mendelian disorder on WES.WES demonstrated a significant prevalence of Mendelian disorders in individuals clinically diagnosed with CP, including in individuals with known CP risk factors.

Background and ObjectivesIndividuals with intellectual and/or developmental disabilities (IDD) experience worse health outcomes compared with peers without a disability partly due to difficulties accessing age-appropriate health care. Provider discomfort with interacting and caring for individuals with IDD is a primary barrier to accessing care. The objectives of this study were to describe resident physicians' education, experiences, and comfort levels regarding individuals with IDD and to identify predictors of higher comfort levels with this patient population.MethodsIn this cross-sectional study, we surveyed medical trainees in 7 residency programs in Boston, Massachusetts on their education, experiences, and comfort levels regarding individuals with IDD. The comfort level was assessed directly on a 6-point Likert scale. The relationship between comfort regarding people with IDD and several candidate explanatory variables was explored with Spearman and partial Spearman correlations (rs).ResultsThe estimated survey response rate was 49%. Of 423 resident physicians included in the study, 96% reported they had treated a patient with IDD, while only 25% reported having formal education on caring for this population. On a scale of 1–6, with higher numbers corresponding to greater comfort, the mean comfort level treating individuals with IDD was 3.73 (CI 3.61–3.85). In bivariant analyses, the amount of prior experience with people with IDD had a moderate, positive correlation with increased comfort levels treating individuals with IDD (rs= 0.42,p< 0.01). The following characteristics had a weak, positive correlation with increased comfort levels: training in a pediatric-focused residency specialty (rs= 0.18,p< 0.01), number of hours of formal education on caring for people with IDD (rs= 0.15,p< 0.01), and age (rs= 0.12,p= 0.03). Only the amount of prior experience with this patient population remained positively correlated with higher comfort levels when the other variables were controlled for (rs= 0.38,p< 0.01).DiscussionPrior experience with individuals with IDD predicted higher comfort levels with this population. This study supports the need for increased opportunities for medical trainees to engage with people with IDD to improve resident physicians' comfort caring for this patient population.

Purposeof Review: Etiological investigations for adults with intellectual disability (ID) pose a special challenge to many adult neurologists. The adaptability of pediatric guidelines for workup of ID to adult populations has not been clearly established. We review the current recommendations on etiological workup of ID in children and adults and provide initial guidance for adult neurologists who care for people with ID of unknown etiology.Recent Findings:Etiological workup, including genetic testing, is recommended in people with ID of unknown origin. Workup should be guided by a thoughtful history and physical exam, which can help identify certain causes of ID.Summary:Specific diagnoses may help guide management and surveillance of comorbid conditions in people with ID. Etiological investigations of adults with ID include genetic and metabolic testing, and brain imaging in the appropriate clinical setting.

Individuals with intellectual and developmental disabilities (IDDs) are among our most medically vulnerable neurologic patient population. As such, they are at particular risk of psychosocial and medical harm during the coronavirus disease 2019 (COVID-19) pandemic. Here, we highlight strategies to decrease potential infectious exposures and ensure continued optimal neurologic care for individuals with IDD during the COVID-19 pandemic. Finally, in a climate of potential medical resource restriction, we offer some suggestions for advocacy on behalf of individuals with IDD.