Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
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DOI：
10.1186/1866-1955-6-39
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发表时间：
2014
影响因子：
4.9
通讯作者：
Buxbaum JD
中科院分区：
文献类型：
--
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
自闭症谱系障碍（ASD）和智力残疾（ID）可以由大量基因突变引起。一个例子是染色体22 q末端的SHANK 3。SHANK 3的一个功能性拷贝的丢失导致22 q13缺失综合征或M-M综合征（PMS），并导致ASD和/或ID的单基因形式，其发生率为0.5%至2%。SHANK 3是这种综合征的关键基因，它的缺失导致突触功能的破坏。随着染色体微阵列分析现在成为评估ASD和发育迟缓的标准护理，并且随着全外显子组和全基因组测序在此背景下的出现，在常规临床环境中识别PMS将显着增加。然而，经前综合症仍然是一种罕见的疾病，大多数医生从未见过病例。虽然对经前综合征的核心缺陷有一致的看法，但还没有确定的参数来指导对该综合征的评估和医学监测。评估必须包括全面的病史、体格检查和畸形学检查。应评估神经功能缺损，包括癫痫发作和脑结构异常的存在以及运动缺损。内分泌、肾脏、心脏和胃肠道问题都需要评估和监测，此外还有复发感染、牙齿和视力问题以及水肿的风险。最后，所有患者都应该进行认知，行为和ASD评估。本文的目的是解决文献中的这一空白，并建立建议，以评估经前综合征的医学，遗传和神经学特征。
Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of ASD and/or ID with a frequency of 0.5% to 2% of cases. SHANK3 is the critical gene in this syndrome, and its loss results in disruption of synaptic function. With chromosomal microarray analyses now a standard of care in the assessment of ASD and developmental delay, and with the emergence of whole exome and whole genome sequencing in this context, identification of PMS in routine clinical settings will increase significantly. However, PMS remains a rare disorder, and the majority of physicians have never seen a case. While there is agreement about core deficits of PMS, there have been no established parameters to guide evaluation and medical monitoring of the syndrome. Evaluations must include a thorough history and physical and dysmorphology examination. Neurological deficits, including the presence of seizures and structural brain abnormalities should be assessed as well as motor deficits. Endocrine, renal, cardiac, and gastrointestinal problems all require assessment and monitoring in addition to the risk of recurring infections, dental and vision problems, and lymphedema. Finally, all patients should have cognitive, behavioral, and ASD evaluations. The objective of this paper is to address this gap in the literature and establish recommendations to assess the medical, genetic, and neurological features of PMS.
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影响因子：
30.8
作者：
Durand, Christelle M.;Betancur, Catalina;Bourgeron, Thomas
通讯作者：
Bourgeron, Thomas
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
影响因子：
6.2
作者：
Bozdagi O;Tavassoli T;Buxbaum JD
通讯作者：
Buxbaum JD
影响因子：
2
作者：
Aldinger, Kimberly A.;Kogan, Jillene;Dobyns, William B.
通讯作者：
Dobyns, William B.
影响因子：
5.2
作者：
Boccuto, Luigi;Lauri, Maria;Schwartz, Charles E.
通讯作者：
Schwartz, Charles E.