Adult Phenotypes in Angelman- and Rett-Like Syndromes

Molecular Syndromology

M.H. Willemsen¹  T. Kleefstra¹  B.C.J. Hamel¹  J.H.M. Rensen¹  H.M.J. van Schrojenstein-Lantman de Valk¹ 

[1] aDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

关键词: Adult phenotypes;    Angelman- and Rett-like syndromes;    CDKL5;    Dravet syndrome;    Kleefstra syndrome;    Male MECP2;    Phelan-McDermid syndrome;    Pitt Hopkins syndrome;   

DOI  :  10.1159/000335661

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Angelman- and Rett-like syndromes share a range of clinical characteristics, including intellectual disability (ID) with or without regression, epilepsy, infantile encephalopathy, postnatal microcephaly, features of autism spectrum disorder, and variable other neurological symptoms. The phenotypic spectrum generally has been well studied in children; however, evolution of the phenotypic spectrum into adulthood has been documented less extensively. To obtain more insight into natural course and prognosis of these syndromes with respect to developmental, medical, and socio-behavioral outcomes, we studied the phenotypes of 9 adult patients who were recently diagnosed with 6 different Angelman- and Rett-like syndromes.

【 授权许可】

Unknown