Pervasive developmental disorders in Prader-Willi syndrome: The Leuven experience in 59 subjects and controls
Pervasive developmental disorders in Prader-Willi syndrome: The Leuven experience in 59 subjects and controls
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DOI：
10.1002/ajmg.a.31235
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发表时间：
2006-06-01
影响因子：
2
通讯作者：
Fryns, JP
中科院分区：
文献类型：
--
作者：
Descheemaeker, MJ;Govers, V;Fryns, JP
在本研究中，我们调查了 59 名普瑞德-威利综合征 (PWS) 个体和 59 名非特异性智障对照者的普遍性发育障碍 (PDD) 共病情况，并进行了匹配的智商、性别和年龄。 “广泛性发育障碍精神发育迟滞量表”（PDD-MRScale）是一种基于 DSM-III-R PDD 标准的筛查问卷，已应用于 PWS 组和对照组。本研究的结果揭示了大多数 PWS 个体具有惊人的类似自闭症的行为表型，特别是语言和沟通质量以及想象力和兴趣方面的缺陷。这种与自闭症症状学的交叉是 PWS 人群行为表型的重要补充。第一种方法是描述 PWS 人群中自闭症症状的亚型。 PWS 组中 19% 的患者确实符合 DSM-III-R PDD 的完整诊断标准，而对照组的这一比例为 15%。结果显示，PWS 中较高的智商并不能防止发生真正的 PDD，并且作为遗传起源的单亲二倍体/印记突变似乎是发生真正的 PDD 的另一个危险因素。本研究的结果表明，在更广泛的自闭症障碍范围内，重新考虑 PWS 人群普遍认可的强迫性行为的重要性。 (c) 2006 年 Wiley-Liss, Inc.
In the present study we investigated the co-morbidity of pervasive developmental disorder (PDD) in 59 Prader-Willi syndrome (PWS) individuals and in 59 non-specific mentally retarded controls, matched for IQ, gender, and age. The 'Pervasive Developmental Disorder Mentally Retardation Scale' (PDD-MRScale), a screening questionnaire based on the DSM-III-R criteria for PDD, has been applied in the PWS group and in the control group. Results of the present study revealed a striking autistic-like behavioral phenotype in the majority of the PWS individuals, particularly deficits in the quality of language and communication and of imagination and interests. This intersection with autistic symptomatology is an important addition to the behavioral phenotype in PWS persons. A first approach to delineate subtypes of autistic symptomalogy among PWS persons was performed. Nineteen percent of the PWS group did meet the full diagnostic DSM-III-R criteria for PDD in comparison with 15% in the control group. Results revealed that a higher IQ in PWS does not protect to develop genuine PDD and that uniparental disomy/imprinting mutation as genetic origin seems to be an additional risk factor for developing genuine PDD. The results of the present study suggest the importance of reconsidering the commonly recognized obsessive-compulsive like behavior in PWS persons within the broader spectrum of autism disorders. (c) 2006 Wiley-Liss, Inc.