2008
DOI: 10.1352/2008.113:427-438
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Autism Profiles of Males With Fragile X Syndrome

Abstract: Autism is common in individuals with fragile X syndrome and it is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with FXS. Overall, 30% of the subjects met criteria for Autistic Disorder and 30% met criteria for PDD-NOS. The classifications on the ADOS and DSM-IV-TR were most similar, whereas the ADI-R classified subjects as autistic much more frequently. We further investigated the r… Show more

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Cited by 361 publications
(304 citation statements)
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“…Unfortunately, little is known about the impact of FXS on synaptic function in the amygdala. This lack of knowledge, in turn, limits our ability to interpret earlier behavioral studies on anxiety and fear in the Fmr1 KO mouse, which have yielded mixed results that are not consistent with the enhanced emotional symptoms observed in the human disease (17)(18)(19)(20). Furthermore, whether or not synaptic abnormalities in the amygdala are consistent with the mGluR theory also remains unexplored.…”
mentioning
confidence: 98%
“…Unfortunately, little is known about the impact of FXS on synaptic function in the amygdala. This lack of knowledge, in turn, limits our ability to interpret earlier behavioral studies on anxiety and fear in the Fmr1 KO mouse, which have yielded mixed results that are not consistent with the enhanced emotional symptoms observed in the human disease (17)(18)(19)(20). Furthermore, whether or not synaptic abnormalities in the amygdala are consistent with the mGluR theory also remains unexplored.…”
mentioning
confidence: 98%
“…Although prevalence estimates vary across studies, there is agreement that the risk of autism spectrum disorders (ASD) is higher in FXS than in many other neuro-developmental disorders. From recent studies, *2% to 6% of children with ASD have FXS (Li et al, 1993;Wassink et al, 2001;Estecio et al, 2002;Hagerman, 2002;Reddy, 2005), and *30% of children with FXS have ASD (see Appendix in Rogers et al, 2001;Kaufmann et al, 2004); Pervasive Developmental Disorder-Not Otherwise Specified is seen in an additional 30% (Harris et al, 2008). In fact, FXS is characterized by a broad spectrum of behavioral and emotional impairment, psychological problems, and learning disabilities in those without mental retardation or ID.…”
mentioning
confidence: 99%
“…In FXS about 60% of males have an ASD (51,52). About 80% of males and 30% of females with FXS have symptoms of attention deficit hyperactivity disorder (ADHD) (53).…”
Section: Behavioral Phenotypementioning
confidence: 99%
“…This behavior leads to the characteristic "Fragile X handshake"; where the individuals may shake the interviewer's hand or acknowledge his/her presence but will avoid eye contact until the interviewer looks away (56). Additional behavioral features include stereotypies such as hand-flapping and hand-biting, shyness, perseveration, mood instability, aggression and impaired speech (52). Cross-sectional analyses suggest that dimensions of problem behavior, anxiety, and hyperactivity are age-related; thus, age should serve as an important control variable in behavioral studies in FXS.…”
Section: Behavioral Phenotypementioning
confidence: 99%