Características da comunicação em indivíduos com a síndrome do X frágil

Abstract

RESUMO -O objetivo deste estudo foi, a partir da avaliação de linguagem de um grupo de 10 meninos com idades variando entre 6 e 13 anos e com a síndrome do cromossomo X frágil (SXF), caracterizar o nível de comunicação desses indivíduos a partir de escalas de desenvolvimento normal. Constatou-se que dentro desta amostra, os indivíduos apresentaram predominantemente forma de comunicação linguística (80%), atingindo o nível máximo de até 3 anos de idade. Concluiu-se que os dados obtidos confirmam o significativo atraso na aquisição e desenvolvimento da comunicação, necessitando, portanto, de intervenção precoce e especializada.PALAVRAS-CHAVE: síndrome do X frágil, fala, linguagem, comunicação. Characteristics of the communication in individuals with fragile X syndromeABSTRACT -The aim of this study was to make a characterization of the communication in a group with fragile X syndrome (FXS), based on normal development scale. The sample has 10 boys, between 6 and 13 years and with FXS. All of them were submitted to language evaluation. The most part of them had the communication in linguistic form (80%), until 3 years old. It was considered that the data confirmed the significant delay in the acquisition and development of the communication, being necessary an early and specialized intervention.

Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas

“…In his discourse, hesitations were identified, with broken phrases and unintelligible episodes, corroborating the literature (2,3,5,6) . Individuals with the Fragile X syndrome present not only deficiencies related to syntax, but also to semantics, such as the difficulty to evoke words and little ability to choose target words from the mental lexicon when trying to produce a well structured, significant thought.…”

“…In the case presented, the genetic-clinical characteristics with reference to the facial dysmorphisms (elongated face, arched palate and prognathism), anomalies of the auricular pavillion (large, protruding ears), macroorchidism and flaccid ligaments, in conjunction with complete mutation in gene FMR1, confirmed the diagnosis of Fragile X syndrome (1)(2)(3)(4)(5)(6)(7)(8) .…”

“…During the evaluation, several maladaptive behaviors were observed, such as biting his hands, persistent behaviors, poor eye contact, repetitive speech, and fixation on a conversational topic. The literature has shown that in the Fragile X syndrome, behavior is extremely varied, and there may be characteristics of the autistic spectrum associated with this entity (3,5,6,8) .…”

“…It is related to the presence of a fragile region that is more prone to breaks or failures, or of a fragile site in the distal portion of the long arm of chromosome X, more specifically at Xq27.3. This chromosomal fragility it not the cause, but the cytogenetic expression of the mutation of a gene located in this region, designated FMR-1 (3) . As general characteristics are various degrees of intellectual disability, behaviors in the autistic spectrum, language alterations, convulsions, strabismus, hypotonia, flaccid joints, increased cephalic perimeter, flat feet, narrow face, high forehead, thin lips, macrodontia, macro-orchidia, long and large nose, arched and narrow palate, prognathism, anomalies of the auricular pavillion and cardiac malformations , particularly prolapse of the mitral valve (4,5) .…”

“…It mentions the occurrence of hyperactivity, attention deficit, hypersensitivity to stimuli, behavioral disorders, anguish in unknown situations, shyness, repetitive discourse, avoidance of eye contact and stereotyping, difficulty with socialization and difficulty in acquiring independence in daily life activities, particularly in the male gender (3,(5)(6)(7)(8) .…”