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.

中文翻译：

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Angelman 综合征儿科患者的营养评估和干预：突出临床挑战和循证解决方案的案例展示

背景：Angelman 综合征 (AS) 是一种罕见的遗传印记疾病，可导致智力和发育障碍。它符合神经功能障碍疾病的标准。大约 70% 的 AS（缺失基因型）病例是由 15 号染色体长臂缺失（del 15q11.2-q13）引起的。总结：缺乏证据支持对 AS 儿科患者进行算法营养评估和干预。因此，我们的目标是通过一个案例展示，为一名患有 AS 缺失基因型的儿科患者提供营养评估和干预的例子，然后强调提供循证营养护理的常见挑战。对于突出的挑战，我们建议以证据为基础的解决方案，为在临床实践中可能遇到类似挑战的临床医生提供资源。关键信息：AS 中存在基因型-表型相关性，可帮助指导临床医生了解与营养相关的临床特征和针对患者的相应干预措施。AS 中的缺失基因型与多种与营养保健相关的特征相关，并且也可能与其他 AS 遗传机制中的特征不同和/或更严重。AS 与其他疾病在某些营养相关的临床特征上也存在重叠，包括 Prader-Willi 综合征、自闭症谱系障碍和脑瘫等神经功能障碍。