Developmental and behavioural disturbances in 13 boys with fragile X syndrome

Abstract

Developmental and behavioural aspects were studied in 13 boys aged 2.6-12.5 years from three families with the fragile X syndrome. The following observations were made. Moderate to severe retardation was present in all boys; non-verbal IQs ranged between 25 and 67 (mean 46 +/- 14); IQ and age were negatively correlated (P less than 0.01). Language development was grossly delayed in all boys; most had severe articulation problems. Imitative and symbolic play (e.g. doll play) were strikingly retarded as compared to abstract play (e.g. block design). Autistic features such as no use of eye contact, stereotyped movements and echolalia were found in 9/13 boys; the same number showed aggressive behaviour. General activity was reduced during the 1st year of life; most boys became very hyperactive during the second year; and short attention span and increased distractability were observed in all. Motor development was mildly delayed; all boys were clumsy and moderately hypotonic. The fragile X syndrome ought to be considered in retarded boys with a dissociated developmental pattern, in particular a striking delay in language and play development, and autistic features.

The Psychiatric Presentation of Fragile X: Evolution of the Diagnosis and Treatment of the Psychiatric Comorbidities of Fragile X Syndrome

“…Fryns [1984] went on to study a larger population of fragile X males in which he confirmed the previously described behavioral phenotype of hyperactivity and impaired attention, marked anxiety with poor eye contact, affective lability, aggression, self-injurious behavior, and autistic features such as repetitive/perseverative/stereotypic behaviors. This basic formulation of the fragile X behavioral phenotype has remained intact to the present day, with substantial confirmation of these basic findings in subsequent studies [Largo and Schinzel, 1985;Gillberg et al, 1986;Veenema et al 1987;Bregman et al, 1988]. Also confirmed was the observation that the marked hyperactivity seen in young males with fragile X appeared to follow a distinct developmental course: boys with FXS actually appeared hypoactive early in life, but became markedly hyperactive in the preschool years.…”

Cognitive profiles of boys with the fragile X syndrome

“…The classical physical findings include large or prominent ears, an elongated face, macroorchidism, and hyperextensible joints Hagerman, 19871. Some of these findings may be much more subtle or absent in prepubertal boys [Largo and Schinzel, 1985;Hagerman, 19871, and for this reason, K-ABC scores may be particularly helpful. Behavioral characteristics include attentional problems, impulsivity, hyperactivity, and autistic-like behaviors, such as poor eye contact or hand-flapping [Levitas et al, 1983a, b;Fryns et al, 1984;Kerbeshian et al, 1984;Hagerman et al, 1985;Largo and Schinzel, 1985;Varley et al, 1985;Hagerman et al, 1986;Hagerman, 19871.…”

Fragile X syndrome: Growth, development, and intellectual function

“…Disordered speech and language have been commonly described among patients with the fra(X) syndrome [Jacobs et al, 1980; Paul et al, 1984; Renier et al, 1983;Turner et al, 1980;Howard-Peebles et al, 1979;J+rgensen et al, 1984; Kerbeshian et al, 1984;Largo and Schinzel, 1985;Carpenter et al, 1982; Newell et al, 1983; Hanson et al, 19861. Some authors are of the opinion that patients with the fra(X) syndrome have such distinctive speech that they may be identified by their speech alone [Jacobs et al, 19801, whereas others state that the speech is not easily analyzed and is simply reflective of the amount of mental retardation present [Howard-Peebles et al, 19791. Nielsen 119831 has shown that fra(X) patients who are mildly retarded do not manifest a specific speech disorder, whereas those who are mentally deficient appear to have greater speech impairment than impairment of motor function.…”

“…One subject, a 21-year-old man with an IQ of 51, had no articulation errors. Kerbeshian et a1 [1984], and Largo and Schinzel (1985) have shown delayed and disordered language in fra(X) individuals. All subjects in this study exhibited a language delay.…”