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Fragile X syndrome: genetic predisposition to psychopathology

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Abstract

Fragile X syndrome is a newly recognized X-linked disorder which has been associated with a high prevalence of psychiatric disturbance, particularly attention deficit disorder and autism. The present study involved the neuropsychiatric evaluation of 14 males with the disorder who were between the ages of 3 to 27 years. Pervasive hyperactivity, impulsivity, and attentional deficits were found among all of the subjects, while a significant degree of anxiety was manifested by more than half. Although the majority of subects exhibited poor eye contact, atypical speech and language functioning, and stereotyped behavior, only one met DSM-III diagnostic criteria for a persistent pervasive developmental disorder. Gaze aversion, noted among half of the subjects, was attributed to underlying anxiety rather than to autistic social dysfunction because of the otherwise socially engaged and affectionate behavior exhibited by the subjects. Failure to make this distinction in the context of cognitive and linguistic impairments associated with fragile X syndrome may account for the high rates of autism reported by other investigators.

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References

  • Achenbach, T. M. (1978). The Child Behavior Profile I. Boys ages 6 thgouth 11.Journal of Consulting Clinical Psychology, 46, 478–488.

    Google Scholar 

  • American Psychiatric Association. (1980).Diagnostic and statistical manual of mental disorders (3rd ed.). Washington, DC: Author.

    Google Scholar 

  • Bregman, J. D., Dykens, E., Watson, M., Ort, S. I., & Leckman, J. F. (1987). Fragile-X syndrome: Variability of phenotypic expression.Journal of the American Academy of Child and Adolescent Psychiatry, 26, 463–471.

    PubMed  Google Scholar 

  • Brown, W. T., Jenkins, E. C., Friedman, E., Brooks, J., Wisniewski, K., Ragatha, S., & French, J. (1982). Autism is associated with the fragile X syndrome.Journal of Autism and Developmental Disorders, 12, 303–307.

    PubMed  Google Scholar 

  • Brown, W. T., Jenkins, E. C., Cohen, I. L., Fisch, G. S., Wolf-Schein, E. G., Gross, A., Waterhouse, L., Fein, D., Mason-Brothers, A., Ritvo, E., Ruttenberg, B. A., Bentley, W., & Castells, S. (1986). Fragile X and Autism.American Journal of Medical Genetics, 23, 341–352.

    PubMed  Google Scholar 

  • Chudley, A. E., & Hagerman, R. J. (1987). Fragile X syndrome.Journal of Pediatrics, 110, 821–831.

    PubMed  Google Scholar 

  • Dykens, E., Leckman, J., Paul, R., & Watson, M. (1988). Cognitive, behavioral and adaptive functioning in fragile X and non-fragile X retarded men.Journal of Autism Developmental Disorders, 18, 41–52.

    Google Scholar 

  • Dykens, E. M., Hodapp, R. M., & Leckman, J. F. (submitted). Adaptive and maladaptive functioning in institutionalized and noninstutionalized fragile X males.

  • Finelli, P., Pueschel, S. M., Padre-Mendoza, T., & O'Brien, M. (1985). Neurological findings in patients with the fragile-X syndrome.Journal of Neurology, Neurosurgery, and Psychiatry, 48, 150–153.

    Google Scholar 

  • Fryns, J. P., Jacobs, J., Kleczkowska, A., & Van den Berghe, H. (1984). The psychological profile of the fragile X syndrome.Clinical Genetics, 25, 131–134.

    PubMed  Google Scholar 

  • Goyette, C. H., Connors, C. K., & Ulrich, R. F. (1978). Normative data on revised Connors Parent and Teacher Rating Scales.Journal of Abnormal Child Psychology, 6, 221–236.

    PubMed  Google Scholar 

  • Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B., & Braden, M. (1986). An analysis of autism in fifty males with the fragile-X syndrome.American Journal of Medical Genetics, 23: 359–374.

    PubMed  Google Scholar 

  • Krug, D. A., Arick, J. R., & Almond, P. J. (1980). Autism Behavior Checklist.Autism screening instrument for educational planning. Portland: AISEP ed.

    Google Scholar 

  • Largo, R. H., & Schinzel, A. (1985). Developmental and behavioral disturbances in 13 boys with Fragile-X syndrome.European Journal of Pediatrics, 143, 269–275.

    PubMed  Google Scholar 

  • Levitas, A., McBogg, P., & Hagerman, R. (1983). Behavioral dysfunction in the fragile X syndrome. In R. Hagerman & P. M. McBogg (Eds.),The fragile X syndrome: Diagnosis, biochemistry, and intervention (pp. 153–173). Dillon, CO: Spectra.

    Google Scholar 

  • Lubs, H., Watson, M., Breg, W. R., & Lujan, E. (1984). Restudy of the original marker X family.American Journal of Medical Genetics, 17, 133–134.

    PubMed  Google Scholar 

  • Paul, R., Dykens, E., Leckman, J., Watson, M., Breg, R., & Cohen, D. (1987). A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism.Journal of Autism and Developmental Disorders, 17, 457–468.

    PubMed  Google Scholar 

  • Rutter, M. (1978). Diagnosis and definition. In M. Rutter & E. Schopler (Eds.),Autism: A reappraisal of concepts and treatment. New York: Plenum Press.

    Google Scholar 

  • Sparrow, S., Balla, D., & Cicchetti, D. (1984).Vineland scales of adaptive behavior. Circle Pines, MN: American Guidance Service.

    Google Scholar 

  • Volkmar, F. R., Sparrow, S. S., Goudreau, D., Cicchetti, D. V., Paul, R., & Cohen, D. J. (1987). Social deficits in autism: An operational approach using the Vineland Adaptive Behavior Scales.Journal of the American Academy of Child and Adolescent Psychiatry, 26, 156–165.

    PubMed  Google Scholar 

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This research was supported in part by the John Merck Fund, NICHD Grant HD03008, CCRC Grant RR00125, and MHCRC Grant MH30929. The authors thank Fred Volkmar, Elisabeth Dykens, Robert Hodapp, and Wendy Marans for their comments and suggestions during the preparation of this manuscript.

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Bregman, J.D., Leckman, J.F. & Ort, S.I. Fragile X syndrome: genetic predisposition to psychopathology. J Autism Dev Disord 18, 343–354 (1988). https://doi.org/10.1007/BF02212191

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