Nutrition Assessment and Intervention in a Pediatric Patient with Angelman Syndrome: A Case Presentation Highlighting Clinical Challenges and Evidence-Based Solutions

Abstract

Background: Angelman syndrome (AS) is a rare disorder of genetic imprinting which results in intellectual and developmental disability. It meets criteria of a disorder of neurologic impairment. A deletion in the long arm of chromosome 15 (del 15q11.2-q13) is responsible for about 70% of cases of AS (deletion genotype). Summary: There is a paucity of evidence to allow algorithmic nutrition assessment and intervention in pediatric patients with AS. Therefore, our objective is to use a case presentation to provide an example of nutrition assessment and intervention in a pediatric patient with the deletion genotype of AS and then highlight common challenges to providing evidenced-based nutrition care. For the highlighted challenges, we suggest evidence-based solutions to provide a resource for clinicians who may encounter similar challenges in clinical practice. Key Messages: There are genotype-phenotype correlations in AS that can help guide clinicians regarding nutritionally relevant clinical characteristics and corresponding interventions that are patient specific. The deletion genotype in AS is associated with multiple characteristics that are relevant to nutrition care and may also be different and/or more severe than characteristics seen in other AS genetic mechanisms. There is also overlap in certain nutritionally relevant clinical characteristics between AS and other conditions, including Prader-Willi syndrome, autism spectrum disorders, and disorders of neurological impairment like cerebral palsy. Clinicians can utilize nutrition resources related to these conditions to expand the scope of relevant resources available.