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Chromosomal abnormalities in a psychiatric population

K E Lewis1, M J Lubetsky, S L Wenger

  • 1University of Pittsburgh Medical Center, Pennsylvania, USA.

American Journal of Medical Genetics
|February 27, 1995
PubMed
Summary

Cytogenetic studies in psychiatric patients found 3% had chromosomal abnormalities, including fragile X syndrome. Increased awareness for genetic testing is crucial for diagnosing developmental disturbances.

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Area of Science:

  • Genetics
  • Psychiatry
  • Developmental Biology

Background:

  • Cytogenetic evaluation is essential for diagnosing undiagnosed mental retardation and autism.
  • Psychiatric patients often present with complex developmental and behavioral issues.
  • Understanding the genetic underpinnings of these conditions is critical for effective treatment.

Purpose of the Study:

  • To evaluate the prevalence of chromosomal abnormalities in hospitalized psychiatric patients.
  • To identify specific genetic markers associated with undiagnosed mental retardation and autism.
  • To emphasize the importance of cytogenetic testing in this patient population.

Main Methods:

  • A 3.5-year cytogenetic evaluation of 345 hospitalized psychiatric patients.
  • Patient population: 76% males, 94% children (mean age 12 years).

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  • Testing criteria: undiagnosed etiology for mental retardation and/or autism.

    • Main Results:

    • 11 patients (3%) had abnormal karyotypes.
    • 4 individuals were fragile X positive (2 males, 2 females).
    • 8 individuals had chromosomal aneuploidy, rearrangements, or deletions.

    Conclusions:

    • Chromosomal abnormalities were identified in 3% of psychiatric patients with undiagnosed developmental issues.
    • Fragile X syndrome and other chromosomal abnormalities warrant consideration in this population.
    • Increased awareness and ordering of chromosomal analysis and fragile X testing are recommended for individuals with combined behavioral, psychiatric, learning, communication, or cognitive disturbances.