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◆ Psychiatric genetics2026-08-18

Severe self-injury in a young girl with autism spectrum disorder and Helsmoortel-van der Aa syndrome responding to naltrexone.

Gökçe Nur Durmaz, Nefise Kahrama N, Murat Coşkun

原始摘要(英文原文)· Original abstract
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition frequently complicated by severe self-injurious behavior (SIB), which may be particularly challenging in children with rare genetic syndromes such as Helsmoortel-van der Aa syndrome. We describe a 10-year-old nonverbal girl with ASD and Helsmoortel-van der Aa syndrome who presented with chronic, severe SIB resulting in ocular rupture. Previous trials with multiple antipsychotics and benzodiazepines provided limited benefit. Following the introduction of naltrexone, the frequency and severity of SIB declined by more than 50% within 4 weeks, accompanied by improvements in irritability and sleep and no reported adverse effects. Clinical ratings supported this response, with Clinical Global Impression-Severity decreasing from 7 to 4 and Clinical Global Impression-Improvement rated as 2. This case suggests that naltrexone may be a useful adjunctive option for treatment-resistant SIB and warrants further systematic investigation.
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Severe self-injury in a young girl with autism spectrum disorder and Helsmoortel-van der Aa syndrome responding to naltrexone. — 科研速览 Science Skim