Journal of Autism and Developmental Disorders

, Volume 18, Issue 3, pp 343–354 | Cite as

Fragile X syndrome: genetic predisposition to psychopathology

  • Joel D. Bregman
  • James F. Leckman
  • Sharon I. Ort
Article

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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Achenbach, T. M. (1978). The Child Behavior Profile I. Boys ages 6 thgouth 11.Journal of Consulting Clinical Psychology, 46, 478–488.Google Scholar
  2. American Psychiatric Association. (1980).Diagnostic and statistical manual of mental disorders (3rd ed.). Washington, DC: Author.Google Scholar
  3. 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.PubMedGoogle Scholar
  4. 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.PubMedGoogle Scholar
  5. 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.PubMedGoogle Scholar
  6. Chudley, A. E., & Hagerman, R. J. (1987). Fragile X syndrome.Journal of Pediatrics, 110, 821–831.PubMedGoogle Scholar
  7. 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
  8. Dykens, E. M., Hodapp, R. M., & Leckman, J. F. (submitted). Adaptive and maladaptive functioning in institutionalized and noninstutionalized fragile X males.Google Scholar
  9. 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
  10. 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.PubMedGoogle Scholar
  11. 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.PubMedGoogle Scholar
  12. 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.PubMedGoogle Scholar
  13. Krug, D. A., Arick, J. R., & Almond, P. J. (1980). Autism Behavior Checklist.Autism screening instrument for educational planning. Portland: AISEP ed.Google Scholar
  14. Largo, R. H., & Schinzel, A. (1985). Developmental and behavioral disturbances in 13 boys with Fragile-X syndrome.European Journal of Pediatrics, 143, 269–275.PubMedGoogle Scholar
  15. 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
  16. 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.PubMedGoogle Scholar
  17. 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.PubMedGoogle Scholar
  18. 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
  19. Sparrow, S., Balla, D., & Cicchetti, D. (1984).Vineland scales of adaptive behavior. Circle Pines, MN: American Guidance Service.Google Scholar
  20. 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.PubMedGoogle Scholar

Copyright information

© Plenum Publishing Corporation 1988

Authors and Affiliations

  • Joel D. Bregman
    • 1
  • James F. Leckman
    • 1
  • Sharon I. Ort
    • 1
  1. 1.Child Study CenterYale University School of MedicineNew Haven

Personalised recommendations