Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).

Background: Chromatin Modifying Disorders (CMD) have emerged as one of the most rapidly expanding genetic disorders associated with autism spectrum disorders (ASD). Motor impairments are also prevalent in CMD and may play a role in the neurodevelopmental phenotype. Evidence indicates that neurodevelopmental outcomes in CMD may be treatable postnatally; thus deep phenotyping of these conditions can improve clinical screening while improving the development of treatment targets for pharmacology and for clinical trials.

Facilitators and Barriers to Care for Patients with Disabilities in Primary Pediatrics.

Nearly 20% of children in the United States have special health care needs, and they often experience disparities in health outcomes. This article reviews barriers to and facilitators of primary pediatric care for children within four defined categories of disability: (1) physical disabilities, both temporary and permanent; (2) chronic conditions requiring accommodations, including mental health conditions; (3) sensory disabilities and conditions; and (4) cognitive, educational, neurodevelopmental, and social disabilities. Primary care facilitators include interventions for both providers and patients that focus on time as a valued resource, provide psychosocial support, coordinate interdisciplinary teams of care, and provide training for providers.