Neurological manifestation and genetic diagnosis of Angelman, Rett and Fragile-X syndromes
نویسندگان
چکیده
منابع مشابه
[Neurological manifestation and genetic diagnosis of Angelman, Rett and Fragile-X syndromes]
OBJECTIVE: To discuss clinical and electroencephalographic aspects and the genetic mechanisms of three neurogenic syndromes that can be related to nosologic entities in the heterogenic pathological group presenting symptoms of mental retardation and autism. SOURCES: The authors carried out a bibliographic review on each syndrome involved, correlating and characterizing the neurological manifest...
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BACKGROUND: 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 phenot...
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rett syndrome is a neurodevelopmental disorder with a unique clinical presentation that occurs almost exclusively in females. angelman syndrome (happy-puppet syndrome) presents with a characteristic face, severe mental retardation, and epilepsy in 80 to 90 percent of cases. rett and angelman syndromes are both part of the spectrum of neurologic disorders associated with autism. their clinical p...
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Autism spectrum disorders (ASDs) are genetically and clinically heterogeneous and lack effective medications to treat their core symptoms. Studies of syndromic ASDs caused by single gene mutations have provided insights into the pathophysiology of autism. Fragile X and Rett syndromes belong to the syndromic ASDs in which preclinical studies have identified rational targets for drug therapies fo...
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ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 2002
ISSN: 0021-7557
DOI: 10.2223/jped.851