Division of Developmental Medicine, Children's Hospital Boston, Boston, MA 02115, USA.
J Dev Behav Pediatr. 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed.
To describe cognitive and behavioral features of patients with chromosome 16p11.2 deletion syndrome, a recently identified and common genetic cause of neurodevelopmental disability, especially autism spectrum disorder (ASD).
Twenty-one patients with 16p11.2 deletion were evaluated by medical record review. A subset of 11 patients consented to detailed cognitive, behavioral, and autism diagnostic assessment.
Patients with 16p11.2 deletion had varying levels of intellectual disability, variable adaptive skills, and a high incidence of language delay. Attention issues were not as frequent as had been reported in previous clinical reports. Atypical language, reduced social skills, and maladaptive behaviors were common, as was diagnosis of ASD. Based on medical record review, 7 of 21 patients (33%) had an ASD diagnosis. Among patients receiving detailed phenotyping, 3 of 11 (27%) met full criteria (met cutoff scores on both Autism Diagnostic Observation Schedule and Autism Diagnostic Interview) for an ASD diagnosis, whereas 6 other patients (55%) met criteria for ASD on either the Autism Diagnostic Observation Schedule or the Autism Diagnostic Interview, but not both measures.
Rates of ASD were similar to previous reports that are based on medical record reviews, but formal assessment revealed that a majority of patients with 16p11.2 deletion demonstrate features of ASD beyond simple language impairment. All patients with 16p11.2 deletion should receive formal neurodevelopmental evaluation including measures to specifically assess cognitive, adaptive, language, and psychiatric/behavioral issues. Clinical evaluation of this patient population should always include assessment by Autism Diagnostic Interview and Autism Diagnostic Observation Schedule to detect behaviors related to ASD and possible ASD diagnosis.
描述染色体 16p11.2 缺失综合征患者的认知和行为特征，该综合征是一种新发现的常见神经发育障碍遗传病因，尤其是自闭症谱系障碍（ASD）。
通过病历回顾评估 21 名 16p11.2 缺失患者。11 名患者中有一部分同意进行详细的认知、行为和自闭症诊断评估。
16p11.2 缺失患者的智力残疾程度不同，适应性技能不同，语言发育迟缓的发生率较高。注意力问题并不像以前的临床报告中那样频繁。异常语言、社交技能减少和适应不良行为很常见，ASD 的诊断也很常见。根据病历回顾，21 名患者中有 7 名（33%）有 ASD 诊断。在接受详细表型评估的患者中，11 名中有 3 名（27%）符合 ASD 全面标准（孤独症诊断观察量表和孤独症诊断访谈均达到 cutoff 分数），而另外 6 名患者（55%）在孤独症诊断观察量表或孤独症诊断访谈中符合 ASD 标准，但不符合两种测量标准。
ASD 的发生率与基于病历回顾的先前报告相似，但正式评估显示，大多数 16p11.2 缺失患者表现出 ASD 的特征，不仅仅是单纯的语言障碍。所有 16p11.2 缺失患者均应接受正式的神经发育评估，包括专门评估认知、适应性、语言和精神/行为问题的评估。对该患者群体的临床评估应始终包括孤独症诊断访谈和孤独症诊断观察量表的评估，以检测与 ASD 相关的行为和可能的 ASD 诊断。
