Abstract

FERNANDEZ LOZANO, Mª Paz; PUENTE FERRERAS, Aníbal; BARAHONA GOMARIZ, Mª José  and  PALAFOX BOGDANOVITCH, Aurelio. Cognitive and behavioural features of the deseases rett, CRI-DU-CHAT, X-FRÁGIL and WILLIAMS. liber. [online]. 2010, vol.16, n.1, pp.39-50. ISSN 1729-4827.

The work aims to analyze the behavioural and cognitive characteristics of four rare diseases (Rett, Cri du Chat, Williams and X-Fragile syndromes) and its impact on education and clinical context. For each of the syndromes we explore common and distinct traits by following a basic scheme: a brief history of the disease, etiology, prevalence, diagnosis, prognosis, genotype and phenotype, intellectual-linguists-psychomotor disabilities, diagnosis instruments, and their impact within the school and family. Recently there is a large scientific production of the medical community related to the subject; however, there is not rigorous and adapted information for families, associations and professionals who work with these populations such as: occupational therapists special education teachers, language therapists, psychologists. There is a felt need among these professionals to translate scientific languages into effective intervention activities.

Keywords : Syndromes; Rett; Cri-du-Chat; Williams; X-Fragile; Genotype; Phenotype.

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