An analysis of autism in fifty males with the fragile X syndrome

Abstract

Fifty males with the fragile X [fra(X)] syndrome, which we consider synonymous with the Martin-Bell syndrome, were identified by a chromosome analysis of patients with developmental delays or mental retardation and family studies of known fra(X) pedigrees. These males were evaluated for autism using three criteria: 1) the DSM III diagnostic criteria for Infantile Autism; 2) the Autism Behavior Checklist (ABC); and 3) the Diagnostic Checklist for Behavior Disturbed Children, Form E2. Sixteen percent of patients fulfilled all of the DSM III criteria for Infantile Autism and an additional 30% fulfilled criteria for Infantile Autism Residual State. Thirty-one percent of patients had autism using the ABC checklist but none of the patients fit the classical Kanner syndrome as described by the E2 questionnaire. Some autistic traits were seen in almost all of the 50 fra(X) patients, including eye avoidance in 90%, handflapping, handbiting or handstereotypies in 88%, and language delays with language peculiarities, usually echolalic speech, in 96%. A pervasive lack of responsiveness was seen in 18% at their present age and in 44% in earlier childhood only. Autistic symptoms are common in the fra(X) syndrome. Therefore, any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fra(X) examination.

An analysis of challenging behavior, comorbid psychopathology, and Attention-Deficit/Hyperactivity Disorder in Fragile X Syndrome

“…The rates of stereotypy reported in the present study are in keeping with those reported in previous research (e.g. Hagerman et al, 1986). However, it is of note that the rates of SIB and aggression reported in this study are far higher than rates cited in previous research (e.g.…”

“…Research has investigated the impact of comorbid ASD in FRAX by comparing individuals with comorbid ASD to those with FRAX only. Such research has reported lower IQ (Hagerman et al, 1986), greater deficits in adaptive functioning (Turk & Graham, 1997), and greater deficits in socialisation (Hernandez et al, 2009) in those with comorbid ASD when compared to those with FRAX only. This research suggests that presence of comorbid ASD in FRAX may result in a poorer prognosis.…”

“…Repetitive and stereotyped behavior has also been noted as posing a significant issue in FRAX. A study examining repetitive and stereotyped behavior in FRAX was conducted by Hagerman et al (1986). This study, consisting of a sample of 50 males, found that 88% of participants engaged in repetitive and stereotyped behavior.…”

Advances in behavioral genetics: mouse models of autism

“…48 The Fmrp (fragile X mental retardation protein)-deficient mouse, a model for FXS, exhibits marked susceptibility to audiogenic seizures [49][50][51] and evidences the enlarged testes, although not the facial dysmorphology, characteristic of the human disease. [51][52][53][54] Most studies report that the loss of Fmrp in mice does not lead to overt motor impairment, severe learning deficiencies, or a lack of social approach.…”

Chromosomal fragility and human genetic disorders

“…Among these, fragile X linked mental retardation is the most common. The incidence of the association of fragile-X with autism ranges from 14% or less to 47% (14,15).…”