Aging in Persons with Rett Syndrome: An Updated Review

被引：17

作者：

Lotan, Meir ^{[1
,2
,3
]}

Merrick, Joav ^{[1
,4
]}

Kandel, Isack ^{[2
]}

Morad, Mohammed ^{[2
,5
]}

机构：

[1] Minist Social Affairs, Div Mental Retardat, Off Med Director, Natl Inst Child Hlth & Human Dev, Jerusalem, Israel

[2] Ariel Univ, Ctr Samaria, Dept Phys Therapy, Ariel, Israel

[3] Chaim Sheba Med Ctr, Natl Rett Syndrome Clin, Natl Evaluat Team, Israeli Rett Syndrome Assoc, Ramat Gan, Israel

[4] Univ Kentucky, Kentucky Childrens Hosp, Lexington, KY 40506 USA

[5] Ben Gurion Univ Negev, Fac Hlth Sci, Dept Family Med, Beer Sheva, Israel

来源：

THESCIENTIFICWORLDJOURNAL | 2010年 / 10卷

关键词：

Rett syndrome; adults; aging; CLINICAL CHARACTERISTICS; INTELLECTUAL DISABILITY; LIFE EXPECTANCY; MUTATIONS; INDIVIDUALS; OSTEOPENIA; PEOPLE;

D O I：

10.1100/tsw.2010.79

中图分类号：

X [环境科学、安全科学];

学科分类号：

08 ; 0830 ;

摘要：

Rett syndrome (RS) is a neurological disease affecting mainly females, characterized by an arrest of brain development caused by an X-linked mutation. Rett syndrome is the first human disease found to be caused by defects in a protein involved in regulating gene expression through its interaction with methylated DNA. The disease has been traced to a defective gene called MECP2. The case stories presented here and recent findings show that females with RS are able to live into old age. Due to the observed longevity of individuals with RS, and the fact that individuals with RS present the therapist/physician with specific clinical challenges, it is suggested that proper, long-term, and individually tailored, intensive care should be provided at all ages in the hope to prevent or at least reduce the age-related deterioration that is typical of this population.

引用

页码：778 / 787

页数：10

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