Resumo

RODRIGUEZ RAMOS, FERNANDA; DELGADO LUENGO, WILMER  e  GONZALEZ FERRER, SANDRA. CLINICAL ASPECTS RETT SYNDROME IN VENEZUELAN PATIENTS . Saber [online]. 2016, vol.28, n.4, pp.726-735. ISSN 1315-0162.

Rett  syndrome  (RS)  is  a  neurodevelopmental  disorder  that  affects  all  ethnic  groups.  It  is  characterized  by psychomotor regression, autistic behavior, slowing growth of the head (postnatal microcephaly), seizures, loss of manual  propositional  functions  and  stereotyped  repetitive  hand  movements.  The  worldwide  prevalence  is  1: 10,000 to 1: 15,000 for females and 1: 100,000 for males. It is caused, in 90 to 95% of cases, by mutations in the MECP2 gene. In Venezuela, just one case of classic RS has been reported in a 5 year-old girl who was diagnoses by Baden 2001 criteria. The objective of this study was to classify, according to the clinical phenotype, the patients diagnosed  with  RS  who  were  referred  to  the  Genetics  Investigations  Institute  at  the  University  of  Zulia.  The genetic medical history, diagnostic criteria proposed by Neul et al. (2010) and Kerr severity scale were recorded from each patient. A total of 24 patients were evaluated and 48% of them had atypical SR, a finding consistent with studies in Israel and Malaysia. Patients with atypical SR had higher overall clinical severity compared with patients with typical SR (p < 0.05). A significant difference was also evident in the mood disorder, being more severe in patients with atypical SR. The clinical severity increases in the age group of 7-12 years compared to the less than 7 years group.

Palavras-chave : Clinical phenotype; Kerr severity scale; diagnostic criteria.

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