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Identification and Evaluation of Mental Retardation

American Family Physician, Feb 15, 2000 by Donna K. Daily, Holly H. Ardinger, Grace E. Holmes

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Within a given family, the risk of recurrence of mental retardation in future siblings or other relatives of the patient depends on the specific diagnosis. The recurrence risk for mental retardation cannot be given to the family until a diagnosis has been made, although a general discussion with a geneticist may be of benefit. The family physician is a valuable resource in periodically reviewing the recurrence risk for the family.

Practice guidelines for primary care of children with certain conditions (Down syndrome, fragile X syndrome) are also available,19-21 as are special somatic growth charts for some syndromes. There are also guidelines for the management of adults with mental retardation who have been deinstitutionalized.22 Table 4 lists Internet resources that may be valuable to the family physician.

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All physicians who care for children with mental retardation or developmental disabilities should remember that these patients quickly outgrow their childhoods. As they become adolescents and young adults, most of them will need professional intervention to help them become their own advocates in the health care system. Families should be supported as they encourage independent functioning on the part of their adolescent or young-adult son or daughter.23 Issues relating to sexuality, family planning, custodial care, estate planning and guardianship are highly important but are beyond the scope of this article.

REFERENCES

1. Coplan J. Three pitfalls in the early diagnosis of mental retardation. Clin Pediatr 1982;21:308-10.

2. Pelegano JP, Healy A. Mental retardation. Part II. Seeing the child within. Fam Pract Recertification 1992;14:58-71.

3. American Association on Mental Retardation. Mental retardation. Definition, classification and systems of supports. 9th ed. Washington, D.C.: the Association, 1993.

4. Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: recommendations of a consensus conference: American College of Medical Genetics. Am J Med Genet 1997;72(4):468-77.

5. Schaefer GB, Bodensteiner JB. Evaluation of the child with idiopathic mental retardation. Pediatr Clin North Am 1992;39(4):929-43.

6. Piecuch RE, Leonard CH, Cooper BA, Sehring SA. Outcome of extremely low birth weight infants (500 to 999 grams) over a 12-year period. Pediatrics 1997;100:633-9.

7. Dimauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993;50:1197-1208.

8. Jones KL, Smith DW. Smith's recognizable patterns of human malformation. 5th ed. Philadelphia: Saunders, 1997.

9. Baraitser M, Winter RM. London dysmorphology database [CD-ROM]. New York: Oxford University Press, 1996. Retrieved June 1999, from World Wide Web: http://www.personal.monash.edu. au/~hofman/medcd/GEN1.htm.

10. Frankenburg WK, Fandal AW, Sciarillo W, Burgess D. The newly abbreviated and revised Denver developmental screening test. J Pediatr 1981;99:995-9.

11. Frankenburg WK, Dodds JB. The Denver developmental screening test. J Pediatr 1967;71:181-91.

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Identification and Evaluation of Mental Retardation

American Family Physician, Feb 15, 2000 by Donna K. Daily, Holly H. Ardinger, Grace E. Holmes

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