Resumo

GARCIA ALONSO, M. Isabel  e  MEDINA GOMEZ, M. Begoña. Phenotypic characterization of adult men diagnosed with fragile X syndrome. Psychosocial Intervention [online]. 2008, vol.17, n.2, pp.201-214. ISSN 2173-4712.

Fragile X syndrome (FXS) is the first known cause of hereditary intellectual disability. Although one of the most common alterations, it is not always well known by health professionals, educators and society in general. This lack of knowledge means that a significant percentage of those affected are not diagnosed. Major differences among autonomous communities exist; in some of them, the syndrome is under diagnosed, due to non-detection, lack of genetic counselling or adequate educational intervention. After reviewing the general characteristics of FXS, we hereby present the study conducted in the province of Burgos, where data was gathered from 273 males with intellectual disability. 57 of them were genetically studied, resulting in the detection of 13 new cases of FXS. The data collection sheet (HRD-1) was the basis for selecting the participants to be studied; this, after undergoing the necessary modifications, resulted in HRD-2. We believe that this sheet can be used as a protocol to facilitate the pre-selection of possible affected adult males. At least 9.5% of males treated at the centres for the intellectually disabled in the province of Burgos, who have not been diagnosed with syndromes or exclusive disabilities, suffer from FXS.

Palavras-chave : Intellectual disabilities; Fragile X syndrome; Phenotypic characteristics.

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