筛查兄弟姐妹中自闭症谱系障碍的症状和体征

T. Mecca, R. Bravo, Renata de Lima Velloso, J. S. Schwartzman, D. Brunoni, M. Teixeira
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引用次数: 1

摘要

广泛性发育障碍(PDD)的特点是影响三个发展领域的全面和定性异常:互惠的社会互动,沟通和重复的,刻板的行为,有限的兴趣。遗传学研究已经确定PDD在同一家族中复发。本研究旨在追踪PDD患者的兄弟姐妹的体征和症状的发生。这项研究包括来自19个家庭的25名研究对象。使用巴西版自闭症筛查问卷(ASQ)进行数据收集。兄弟姐妹中确诊2例PDD(10.52%的病例):一个同卵双胞胎兄弟和一个诊断为阿斯伯格综合征的先证兄弟。我们的数据表明兄弟姐妹中PDD的发生率比文献中描述的要高(2-6%),接近于异卵双胞胎家族复发率为10%的发现。这一结果为可能的神经遗传因素提供了证据,解释了被评估先证者亲属中PDD的发生,并强调了不仅需要对被评估的儿童进行筛查,还需要对他们的兄弟姐妹进行筛查。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Screening for signs and symptoms of autism spectrum disorders in siblings
Pervasive developmental disorders (PDD) are characterized by comprehensive and qualitative abnormalities affecting three areas of development: reciprocal social interaction, communication, and a repetitive, stereotyped behavioral repertoire, of limited interests. Genetic studies have identified the recurrence of PDD in the same family. The present study aimed to trace the occurrence of signs and symptoms of PDD in the siblings of patients with this diagnosis. The study included 25 subjects from 19 families. Data collection was performed using the Brazilian version of the Autism Screening Questionnaire (ASQ). Two cases of PDD in siblings were confirmed (10.52% of cases): a monozygotic twin brother and the brother of a proband with a diagnosis of Asperger syndrome. Our data indicate higher rates of PDD in siblings than described in the literature (2-6%), close to the findings that suggest a 10% rate of familial recurrence in dizygotic twins. This result provides evidence of possible neurogenetic factors to explain the occurrence of PDD in relatives of the probands assessed and underscores the need to screen not only the child under evaluation, but also their siblings.
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