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American Family Physician, Feb 15, 2000 by Donna K. Daily, Holly H. Ardinger, Grace E. Holmes
Referral may be made to a tertiary-level child development unit that can provide interdisciplinary evaluations (developmental pediatrics, genetics, neurology, ophthalmology) as well as functional assessments (occupational and physical therapy, speech/language pathology, audiology, psychology). Families will usually welcome such a referral and comprehensive evaluation, especially if the mental retardation is unexplained. Evaluations by a nutritionist and a child psychiatrist may also be appropriate for some patients.
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The family physician should expect complete information on the findings from this type of team evaluation. The family should expect to be referred back to their local community for ongoing primary care and, in some instances, subspecialty care. Information about early intervention resources in the local community should be shared with the family, and appropriate support services should be identified.
If the child with mental retardation has a head circumference that falls below the 5th percentile (microcephaly) or above the 95th percentile (macrocephaly), a magnetic resonance imaging scan of the brain should be considered. This is usually preferable to computed tomographic scanning because of the enhanced visualization of developmental abnormalities of the cerebral cortex, such as pachygyria, polymicrogyria and schizencephaly. These disorders reflect an abnormality during the first 25 weeks of gestation in the early migration of the neurons into the normally six-layered cortex.
A consultation with a medical geneticist/ dysmorphologist is invaluable. This would include a review of a three-generation pedigree and records of pertinent relatives, evaluation for subtle dysmorphic features and assessment for a pattern to the patient's presenting characteristics.
Most mentally retarded patients who visit a genetics office undergo chromosome analysis. While this testing could be done by the referring physician, there are different levels of test quality, and it is usually best performed by a good cytogenetics laboratory associated with a university hospital or children's hospital. This allows for ease in interpretation of the results to the patient's family in the event an abnormality is found. DNA testing for fragile X syndrome should be done instead of cytogenetic testing, which can miss up to 7 percent of those who are affected.18 Metabolic testing in the absence of a history suggestive of metabolic disease is probably of little value.4
Diagnosis may require several periodic visits to a geneticist, because a phenotype may evolve slowly, and new syndromes are constantly being reported. The importance of making a diagnosis in a child with mental retardation cannot be overemphasized. An accurate diagnosis allows for anticipatory guidance for the patient, recurrence risk information and genetic counseling for the parents, and opportunities for the family to become involved in specific support groups. An uncertain diagnosis should be conveyed as such; no diagnosis is preferable to an incorrect one.
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