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Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome.
Molecular Syndromology ( IF 1.1 ) Pub Date : 2019-11-05 , DOI: 10.1159/000503840
Gilles Droogmans 1 , Ann Swillen 1, 2 , Griet Van Buggenhout 1, 2
Affiliation  

Phelan-McDermid syndrome (PMS; also referred to as 22q13.3 deletion syndrome) is a congenital condition due to a microdeletion in the SHANK3 gene. Cognitive and communicative deficits as well as behaviour in the autism spectrum are often noticed in affected individuals. The aim of the present study was to obtain a detailed phenotype of the development, communication, and behaviour of 15 individuals with PMS by using both quantitative (questionnaires) and qualitative methods (interviews and observations). In addition, data from the patients' medical records were included. In a subgroup of participants (n = 5), data from a previous study were incorporated to enable a comparison over 2 points in time (longitudinal course). Results indicate a severe to profound level of intellectual disability in all participants, impaired adaptive behaviour, a low level of speech and language, a high incidence of features of autism spectrum disorder (ASD), and a high sensory threshold. Younger individuals (age <18 years) exhibited more challenging behaviour and features of ASD. In older individuals with PMS, a regression across many developmental and adaptive domains was frequently reported and observed. We did not find a relation between the deletion size and the severity of the phenotype. Implications of the findings and recommendations for clinical practice and future research are discussed.

中文翻译:

Phelan-McDermid综合征的发育,沟通和行为的深表型。

由于SHANK3基因的微缺失,Phelan-McDermid综合征(PMS;也称为22q13.3缺失综合征)是先天性疾病。经常在受影响的个体中发现自闭症谱系中的认知和沟通缺陷以及行为。本研究的目的是通过定量(问卷调查)和定性方法(访谈和观察)来获得15名PMS个体的发育,交流和行为的详细表型。此外,还包括来自患者病历的数据。在参与者的一个子组(n = 5)中,纳入了先前研究的数据,以进行2个时间点的比较(纵向过程)。结果表明,所有参与者的智力障碍都达到了严重至深远的水平,适应行为受到损害,语音和语言水平低,自闭症谱系障碍(ASD)的特征发生率高以及感觉阈值高。年龄小于18岁的年轻人表现出更具挑战性的行为和自闭症特征。在患有PMS的老年人中,经常报告和观察到跨越许多发展和适应领域的回归。我们没有发现删除大小和表型的严重性之间的关系。讨论的发现和建议对临床实践和未来研究的影响。经常报告和观察到许多发展和适应领域的回归。我们没有发现删除大小和表型的严重性之间的关系。讨论的发现和建议对临床实践和未来研究的影响。经常报告和观察到许多发展和适应领域的回归。我们没有发现删除大小和表型的严重性之间的关系。讨论的发现和建议对临床实践和未来研究的影响。
更新日期:2019-11-05
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