EVALUATION OF MENTAL-RETARDATION - RECOMMENDATIONS OF A CONSENSUS CONFERENCE

A Consensus Conference utilizing available literature and expert opini on sponsored by the American College of Medical Genetics in October 19 95 evaluated the rational approach to the individual with mental retar dation. Although no uniform protocol replaces individual clinician jud gement, the consensus recommendations were as follows: 1. The individu al with mental retardation, the family, and medical care providers ben efit from a focused clinical, and laboratory evaluation aimed at estab lishing causation and in providing counseling, prognosis, recurrence r isks, and guidelines for management. 2. Essential elements of the eval uation include a three-generation pedigree: pre-, peri-, and post-nata l history, complete physical examination focused an the presence of mi nor anomalies, neurologic examination, and assessment: of the behavior al phenotype. 3. Selective laboratory testing should, in most patients , include a banded karyotype. Fragile X testing should be strongly con sidered 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 abn ormalities. Metabolic testing should be initialed in the presence of s uggestive clinical and physical findings. Neuroimaging should be consi dered 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 cho ice. 4. Sequential evaluation of the patient, occasionally over severa l years, is often necessary for diagnosis, allowing for delineation of the physical and behavioral phenotype, a logical approach to ancillar y testing and appropriate prognostic and reproductive counseling. (C) 1997 Wiley-Liss, Inc.