Specific Neurological Phenotypes in Autism Spectrum Disorders Are Associated with Sex Representation
Specific Neurological Phenotypes in Autism Spectrum Disorders Are Associated with Sex Representation
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DOI：
10.1002/aur.1319
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发表时间：
2013-12-01
期刊：
影响因子：
4.7
通讯作者：
Zachor, Ditza A.
中科院分区：
文献类型：
--
作者：
Ben-Itzchak, Esther;Ben-Shachar, Shay;Zachor, Ditza A.
自闭症谱系障碍（ASD）是一种主要发生在男性的遗传性疾病。本研究的目的是比较ASD中常见的特定神经表型患病率的性别差异。该研究包括663名年龄在18个月至15岁之间的被诊断为ASD的参与者。使用标准化测试进行神经和行为评估，并从父母那里获得医疗，发育和家族史。研究中的表型为大头畸形和小头畸形、发育退化、轻微神经和肌肉骨骼缺陷（MNMD）和癫痫发作。ASD组的男女比例为6.7：1。自闭症的严重程度、认知能力和适应功能没有性别差异。男性的平均头围百分位数（50.1 +/- 25.6）显著大于女性（43.4 +/- 30.2）。ASD中的小头畸形和大头畸形比预期更常见（分别为5.9%; 18.1%）。女性小头畸形（15.1%）的患病率明显高于男性（4.5%）。两性中大头畸形的患病率没有显著差异。ASD女性患者中30.2%的患者出现退行性变，显著高于男性患者（18.9%）。MNMD在女性中占73.8%，显著高于男性（57.1%）。在具有两种或两种以上表型的组中，M：F比率降低（3.6：1），而在无表型的组中，男性优势更显著（13.6：1）。与ASD相关的神经表型在女性中比男性更普遍，导致女性的临床和神经表现更复杂。因此，不同的病因参与表明在ASD的女性。Autism Res 2013，6：596-604. (c)2013年国际自闭症研究学会，Wiley Periodicals，Inc。
Autism spectrum disorder (ASD) is a heritable disorder occurring predominantly in males. The aim of this study was to compare sex differences in the prevalence of specific neurological phenotypes commonly described in ASD. The study included 663 participants, aged 18 months to 15 years, diagnosed with ASD. Neurological and behavioral assessments were performed using standardized tests, and obtaining medical, developmental, and familial histories from the parents. Phenotypes under investigation were macro- and microcephaly, developmental regression, minor neurological and musculoskeletal deficits (MNMD), and seizures. Male:female ratio in the ASD group was 6.7:1. No sex differences in autism severity, cognitive ability, and adaptive functioning were noted. Mean head circumference percentile for males (50.1 +/- 25.6) was significantly larger than females (43.4 +/- 30.2). Micro- and macrocephaly were more frequent in ASD than expected (5.9%; 18.1%, respectively). Microcephaly in females (15.1%) was significantly more prevalent than in males (4.5%). The prevalence of macrocephaly in both sexes did not differ significantly. Regression was noted in 30.2% of the females with ASD, significantly higher than in males (18.9%). MNMD was documented in 73.8% of the females, significantly higher than in males (57.1%). M:F ratio decreased in a group with two or more phenotypes (3.6:1), while male predominance was more significant in the group without phenotypes (13.6:1). Neurological phenotypes associated with ASD are more prevalent in females than in males, resulting in more complex clinical and neurological manifestations in females. Therefore, involvement of different etiologies is suggested in ASD in females. Autism Res 2013, 6: 596-604. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.