Search

BackgroundMany physicians feel uncomfortable caring for patients with intellectual and developmental disabilities (IDD). While some residency training programs include lecture content on IDD, few provide structured experiences with individuals with IDD. One strategy for improving comfort is “contact theory:” increasing interactions with “dissimilar” people can lead to decreased negative attitudes toward that population.ObjectiveEvaluate the impact of an interactive session on resident physicians’ comfort with adults with IDD.MethodsSmall groups of resident physicians and artists with IDD collaborated on art projects during the noon conference. A prospective pre-post-intervention survey, including the validated Interaction with Disabled Persons Scale (IDP), evaluated residents’ comfort with patients with IDD before and after the session.Results53 residents completed both pre- and post-conference surveys. Mean IDP scores decreased from 78.7 (10.9) to 75.8 (9.5; p

Aim: To describe the complex roles of and crucial support provided by caregivers to young adults with cerebral palsy (CP) during the transition to adulthood. Method: This was a qualitative study. We conducted 20 semi-structured interviews (13 caregiver; 7 patient/caregiver dyad) and analyzed data using a qualitative descriptive approach informed by phenomenological principles. Results: We identified four major themes related to the roles that caregivers play during the transition to adulthood for young adults with CP: 1) caregivers as care coordinators; 2) navigating logistic and insurance barriers; 3) adjusting to adulthood and planning for an uncertain future; and 4) supporting maintenance of health, function, and quality of life. Overall, caregivers shared the many different ways that they act as advocates for young adults with CP. Many participants identified the extensive amount of time, energy, and financial resources required to appropriately provide care. Conclusions: The transition to adulthood for young adults with CP is a challenging, uncertain, complex process for both adults with CP and their caregivers. Throughout this transition, caregivers also prioritize the happiness and quality of life of their adult children with CP. Our findings could be used by clinicians and researchers to develop and study patient- and family-centered transition processes for individuals with CP that attend to the struggles and priorities of youth with CP and caregivers alike.

Objective: Pilot a clinical model and study to learn more about how employment impacts health in children and young adults with intellectual and developmental disabilities. Background: As young individuals transition into adulthood, milestones such as independent living and gainful employment become paramount. However, for those with intellectual and developmental disabilities (IDD), these milestones can diverge notably from those of typically developing peers. They often confront distinct challenges, especially during shifts from pediatric to adult health care and transitioning from school to employment. Despite the positive influence of employment on quality of life, fragmented support systems create barriers to achieving this outcome. Employment is an important aspect of overall health and wellness, and more research is needed to determine how employment supports can be integrated with health care to improve certain health outcomes. Design: Self-determination theory and social ecological theory highlight the need for a comprehensive approach that considers both the internal needs and motivations of the individual with IDD and the external factors that influence their transition to adulthood. Based in these theories, our intervention offers an innovative blend of vocational support within a transition services framework at a large academic hospital. Our study introduces vocational support tailored for IDD youths within three health clinics. Results: Initial results demonstrate the technical and scheduling feasibility of integrating the intervention within existing healthcare services. The study has enrolled several participants, showing potential in technical, scheduling, economic, and operational domains. However, upcoming long-term data and comprehensive evaluation are required for a conclusive understanding of the intervention's impact. Conclusions: The program integrates vocational support into transitioning individuals with IDD from childhood to adult health care services. This intervention has potential to improve the health outcomes and quality of life for individuals with IDD, which could drive broader interdisciplinary interventions.

Abstract Objectives 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. Methods 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. Results 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. Interpretation WES demonstrated a significant prevalence of Mendelian disorders in individuals clinically diagnosed with CP, including in individuals with known CP risk factors.

Objective: The authors examined how the COVID-19 pandemic affected the behavioral health of people with intellectual and developmental disabilities (IDD).Methods: 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.Results: 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%).Conclusions: 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. [ABSTRACT FROM AUTHOR]

Objectives: 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. Methods: 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. Results: 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. Interpretation: WES demonstrated a significant prevalence of Mendelian disorders in individuals clinically diagnosed with CP, including in individuals with known CP risk factors. [ABSTRACT FROM AUTHOR]

The Neuroatypical Conditions Expert Consultative Panel composed of numerous clinical and academic experts was convened to examine barriers to the examination of cognitive impairment in adults with a variety of neuroatypical conditions. Neuroatypical conditions affect normative intellectual development and function (such as intellectual disability and intellectual disability with conjoint psychiatric conditions), thought, moods, and cognition (such as severe mental illness), communication functions (such as the autism spectrum and hearing/vision impairments), and brain and motor function (such as cerebral palsy and acquired or traumatic brain injury). The panel concluded that current federal guidance for the assessment of cognitive impairment for mild cognitive impairment (MCI) or dementia does not sufficiently include information as to how to assess such adults. In addition, it concluded that adults with these conditions (1) challenge clinicians when attempting to discern current behavior and function from that which was pre‐existing; (2) often have inherent comprehension and oral communication difficulties, motor task performance impediments, and difficulty with visuals; and (3) pose difficulties when assessed with standardized dementia measures and can benefit from the use of specialized instruments. The panel recommended that federal guidance be broadened to include adaptations of assessment practices to accommodate neuroatypical conditions; that educational packs be developed for clinicians about such conditions and on detecting and diagnosing MCI or dementia; and that research be expanded to produce more evidence‐based information on both assessing adults with neuroatypical conditions for later‐life adult cognitive diseases/disorders and planning post‐diagnostic care. [ABSTRACT FROM AUTHOR]