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首页> 外文期刊>American journal of medical genetics, Part A >Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls.
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Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls.

机译：Prader-Willi综合征中的普遍性发育障碍：鲁汶在59位受试者和对照组中的经历。

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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.
机译：在本研究中，我们调查了59名Prader-Willi综合征（PWS）个体和59名非特异性智障对照中普遍存在的发育障碍（PDD）的合并症，并与智商，性别和年龄相匹配。 PWS组和对照组均采用了基于PDD的DSM-III-R标准的筛查问卷“普遍性发育障碍精神发育迟缓量表”（PDD-MRScale）。本研究结果显示，大多数PWS个体具有惊人的自闭症行为表型，尤其是语言和沟通质量以及想象力和兴趣方面的缺陷。自闭症症状的这种交集是PWS人行为表型的重要补充。进行了描述PWS患者自闭症症状亚型的第一种方法。 PWS组中有19％的确满足了PDD的完全诊断DSM-III-R诊断标准，而对照组中只有15％。结果表明，PWS的智商较高并不能保护其发展为真正的PDD，而单亲二体性/印记突变是遗传起源，似乎是发展为真正PDD的另一个危险因素。本研究的结果表明，在更广泛的自闭症患者中重新考虑PWS患者普遍公认的强迫性行为的重要性。

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