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Clin Genet. 1987 Sep;32(3):179-86.

Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients.


In this study a further analysis of the psychological profile in the prepubertal fragile (X) (fra(X] male was performed. The results of the psycho-diagnostic examination of 23 fra(X) boys were compared to a control group of 17 males of the same age with 'non-specific' mental retardation. A number of important quantitative and qualitative differences were observed between the two groups. In the preschool age group the majority of fra(X) boys was mildly mentally retarded. In the school-age group, however, most boys were moderately to severely mentally retarded. This indication of a decline in intellectual performance with age in the fra(X) syndrome was confirmed by a longitudinal individual follow-up of seven fra(X) boys in this age group. In contrast to intellectual performance, appearance of the attention deficit disorder (or hyperkinesis), with its attendent overactivity and impulsiveness, decreases with age, and is independent of the intellectual level. Autistic behaviour was more frequently observed in the youngest fra(X) males, and was more pronounced in the moderately mentally retarded. In more than 50% of the boys of preschool age the association of hyperkinesis and autistic features was found. Language and speech development in the fra(X) syndrome is both symptomatic and specific. Beside a severe, global speech retardation, there are some distinct speech characteristics in the young fra(X) males such as rapid speech rhythm, speech impulsiveness and perseverative speech.

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