Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD.
Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD.
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DOI：
10.3390/genes12070977
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发表时间：
2021-06-26
期刊：
影响因子：
3.5
通讯作者：
Siper PM
中科院分区：
文献类型：
--
作者：
Tavassoli T;Layton C;Levy T;Rowe M;George-Jones J;Zweifach J;Lurie S;Buxbaum JD;Kolevzon A;Siper PM
M-M综合征（PMS）是自闭症谱系障碍（ASD）最常见的遗传形式之一。虽然感觉反应性症状在特发性ASD（iASD）中被广泛报道，但很少有研究检查PMS的感觉症状。目前的研究描绘了感觉反应表型，并在一个大样本的PMS儿童检查基因型-表型的相互作用。使用神经发育障碍感觉评估（SAND）对52名PMS儿童、132名iASD儿童和54名典型发育（TD）儿童的感觉反应进行了测量。SAND是临床医生管理的观察和相应的护理人员访谈，其基于ASD的DSM-5标准捕获感觉症状。与iASD和TD对照儿童相比，PMS儿童表现出明显更大的低反应性症状和更少的高反应性和寻求症状。具有I类缺失或序列变体的那些与具有较大II类缺失的那些之间没有差异，这表明SHANK 3的单倍不足是PMS中观察到的感觉表型的主要驱动因素。在这项研究中确定的综合征特异性感觉表型不同于其他单基因形式的ASD，并提供了深入了解SHANK 3缺陷在感觉反应性中的潜在作用。了解PMS中的感觉反应异常，在已知的神经元功能失调的背景下，可能会为该综合征的未来临床试验提供信息。
Phelan–McDermid syndrome (PMS) is one of the most common genetic forms of autism spectrum disorder (ASD). While sensory reactivity symptoms are widely reported in idiopathic ASD (iASD), few studies have examined sensory symptoms in PMS. The current study delineates the sensory reactivity phenotype and examines genotype–phenotype interactions in a large sample of children with PMS. Sensory reactivity was measured in a group of 52 children with PMS, 132 children with iASD, and 54 typically developing (TD) children using the Sensory Assessment for Neurodevelopmental Disorders (SAND). The SAND is a clinician-administered observation and corresponding caregiver interview that captures sensory symptoms based on the DSM-5 criteria for ASD. Children with PMS demonstrated significantly greater hyporeactivity symptoms and fewer hyperreactivity and seeking symptoms compared to children with iASD and TD controls. There were no differences between those with Class I deletions or sequence variants and those with larger Class II deletions, suggesting that haploinsufficiency of SHANK3 is the main driver of the sensory phenotype seen in PMS. The syndrome-specific sensory phenotype identified in this study is distinct from other monogenic forms of ASD and offers insight into the potential role of SHANK3 deficiency in sensory reactivity. Understanding sensory reactivity abnormalities in PMS, in the context of known glutamatergic dysregulation, may inform future clinical trials in the syndrome.
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影响因子：
4.9
作者：
Kolevzon A;Angarita B;Bush L;Wang AT;Frank Y;Yang A;Rapaport R;Saland J;Srivastava S;Farrell C;Edelmann LJ;Buxbaum JD
通讯作者：
Buxbaum JD
影响因子：
6.2
作者：
Bozdagi O;Sakurai T;Papapetrou D;Wang X;Dickstein DL;Takahashi N;Kajiwara Y;Yang M;Katz AM;Scattoni ML;Harris MJ;Saxena R;Silverman JL;Crawley JN;Zhou Q;Hof PR;Buxbaum JD
通讯作者：
Buxbaum JD
DOI：
10.1523/jneurosci.6107-11.2012
发表时间：
2012-05-09
期刊：
The Journal of neuroscience : the official journal of the Society for Neuroscience
影响因子：
--
作者：
Yang M;Bozdagi O;Scattoni ML;Wöhr M;Roullet FI;Katz AM;Abrams DN;Kalikhman D;Simon H;Woldeyohannes L;Zhang JY;Harris MJ;Saxena R;Silverman JL;Buxbaum JD;Crawley JN
通讯作者：
Crawley JN
影响因子：
6.2
作者：
Tavassoli, Teresa;Auyeung, Bonnie;Chakrabarti, Bhismadev
通讯作者：
Chakrabarti, Bhismadev
影响因子：
4.7
作者：
Siper, Paige M.;Kolevzon, Alexander;Tavassoli, Teresa
通讯作者：
Tavassoli, Teresa