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首页> 外文期刊>Journal of communication disorders >Expressive and receptive language in Prader-Willi syndrome: Report on genetic subtype differences
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Expressive and receptive language in Prader-Willi syndrome: Report on genetic subtype differences

机译：普拉德-威利综合症中的表达和接受语言：遗传亚型差异的报告

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Prader-Willi syndrome (PWS), most recognized for the hallmark hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the q11-13 region of chromosome 15. Since the recognition of PWS as a genetic disorder, most research has focused primarily on the medical, genetic, and behavioral aspects of the syndrome. Extensive research has not been conducted on the cognitive, speech, and language abilities in PWS. In addition, language differences with regard to genetic mechanism of PWS have not been well investigated. To date, research indicates overall language ability is markedly below chronological age with expressive language more impaired than receptive language in people with PWS. Thus, the aim of the present study was to further characterize expressive and receptive language ability in 35 participants with PWS and compare functioning by genetic subtype using the Clinical Evaluation of Language Fundamentals-4 (CELF-IV). Results indicate that core language ability is significantly impaired in PWS and both expressive and receptive abilities are significantly lower than verbal intelligence. In addition, participants with the maternal uniparental disomy (mUPD) genetic subtype exhibit discrepant language functioning with higher expressive vs. receptive language abilities. Future research is needed to further examine language functioning in larger genetic subtype participant samples using additional descriptive measures. Further work should also delineate findings with respect to size of the paternal deletion (Type 1 and Type 2 deletions) and explore how overexpression of maternally expressed genes in the 15q11-13 region may relate to verbal ability.Learning outcomes: After reading this article, the reader will be able to: (1) summarize primary characteristics of Prader-Willi syndrome (PWS), (2) describe differentiating characteristics for the PWS genetic subtypes, (3) recall limited research regarding language functioning in PWS to date, (4) summarize potential genetic variations of language ability in Prader-Willi syndrome, and (5) summarize language ability in PWS with respect to adaptive functioning.
机译：普拉德-威利综合症（PWS）最常被视为标志性食欲过高和饮食偏爱，是由15号染色体第11-13位区域中没有父系活性基因的表达引起的。由于PWS被视为一种遗传疾病，大多数研究主要集中在该综合征的医学，遗传和行为方面。尚未对PWS的认知，言语和语言能力进行过广泛的研究。另外，关于PWS遗传机制的语言差异还没有得到很好的研究。迄今为止，研究表明，在PWS患者中，总体语言能力明显低于按时间顺序排列的年龄，表达语言比接受语言受到的损害更大。因此，本研究的目的是进一步表征35名PWS参与者的表达和接受语言能力，并使用《语言基础4临床评估》（CELF-IV）比较遗传亚型的功能。结果表明，PWS中的核心语言能力明显受损，表达能力和接受能力均显着低于口头智力。此外，具有母体单亲二体性（mUPD）遗传亚型的参与者表现出差异性语言功能，具有较高的表达能力和接受能力。需要进行进一步的研究，以使用其他描述性措施进一步检查较大的遗传亚型参与者样本中的语言功能。进一步的工作还应该描述有关父亲缺失大小（类型1和类型2缺失）的发现，并探讨15q11-13区域中母亲表达的基因的过表达如何与言语能力相关。学习成果：阅读本文后，读者将能够：（1）总结Prader-Willi综合征（PWS）的主要特征，（2）描述PWS遗传亚型的区别特征，（3）回顾迄今为止有关PWS语言功能的有限研究，（4 ）总结了Prader-Willi综合征语言能力的潜在遗传变异，（5）总结了PWS在适应功能方面的语言能力。

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