PSYCHIATRIC AND AUTISTIC COMORBIDITY IN FRAGILE X SYNDROME ACROSS AGES

Background: Fragile X syndrome (FXS) is the most common form, known today, of inherited mental retardation. The syndrome is caused by an unstable expansion of CGG trinucleotide repeat, within the promoter region of the human FMR1 (Fragile X Mental Retardation) gene on the X chromosome. This mutation can change sizes over generations, becoming more unstable, and thus the conditions may occur more frequently or severely in subsequent generations. Children with FXS have a typical psychiatric and behavioral profile. In addition to mental deficit manifested in language, cognitive and motor delay, high prevalence of psychiatric comorbidity, sensory sensitivity and hyper-arousal are also common along lifespan. Moreover, 90% of all children with FXS show some autistic characteristics. About a third of these children meet the criteria for pervasive developmental disorder (PDD), what makes FXS the most common known single gene cause of autism. Objectives: To characterize psychiatric and autistic comorbidities in children and adolescents with fragile X syndrome. Methods: Subjects were recruited from a cohort of families that are part of the Israeli parents' non-profit organization for fragile X syndrome. Results: Initial results (N=18) show a change in psychiatric comorbidity prevalence across ages. While attention deficits, specific and social phobias and dysthymia show great reduction, obsessive-compulsive behaviors, motor and vocal tics remain relatively the same or even increase. In addition, our results show that autistic-like behaviors decrease with age. Conclusions: The typical profile of children with FXS changes with age. Awareness to these characteristics can help understanding and treating the child with FXS.