Evaluation of mental retardation: Recommendations of a consensus conference

Cynthia J. Curry, Roger E. Stevenson, David Aughton, Janice Byrne, John C. Carey, Suzanne Cassidy, Christopher Cunniff, John M. Graham, Marilyn C. Jones, Michael M. Kaback, John Moeschler, G. Bradley Schaefer, Stuart Schwartz, Jack Tarleton, John Opitz

Research output: Contribution to journalArticlepeer-review

376 Scopus citations


A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with mental retardation. Although no uniform protocol replaces individual clinician judgement, the consensus recommendations were as follows: 1. The individual with mental retardation, the family, and medical care providers benefit from a focused clinical and laboratory evaluation aimed at establishing causation and in providing counseling, prognosis, recurrence risks, and guidelines for management. 2. Essential elements of the evaluation include a three- generation pedigree: pre-, peri-, and post-natal history, complete physical examination focused on the presence of minor anomalies, neurologic examination, and assessment of the behavioral phenotype. 3. Selective laboratory testing should, in most patients, include a banded karyotype. Fragile X testing should be strongly considered in both males and females with unexplained mental retardation, especially in the presence of a positive family history, a consistent physical and behavioral phenotype and absence of major structural abnormalities. Metabolic testing should be initialed in the presence of suggestive clinical and physical findings. Neuroimaging should be considered in patients without a known diagnosis especially in the presence of neurologic symptoms, cranial contour abnormalities, microcephaly, or macrocephaly. In most situations MRI is the testing modality of choice. 4. Sequential evaluation of the patient, occasionally over several years, is often necessary for diagnosis, allowing for delineation of the physical and behavioral phenotype, a logical approach to ancillary testing and appropriate prognostic and reproductive counseling.

Original languageEnglish (US)
Pages (from-to)468-477
Number of pages10
JournalAmerican journal of medical genetics
Issue number4
StatePublished - Nov 12 1997


  • Chromosome testing
  • Fragile X
  • Mental retardation
  • Metabolic testing
  • Neuroimaging

ASJC Scopus subject areas

  • Genetics(clinical)


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