Rational Diagnostic Evaluation of the Child With Mental Deficiency FREE

David W. Smith, MD; F. Estelle R. Simons, MD

Received for publication Aug 5, 1974; accepted Nov 4.

Reprint requests to Department of Pediatrics, University of Washington School of Medicine, RR234 Health Sciences RD-20, Seattle, WA 98195 (Dr Smith).

Am J Dis Child. 1975;129(11):1285-1290. doi:10.1001/archpedi.1975.02120480015006.

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ABSTRACT

ABSTRACT | REFERENCES

• Evaluation of a mentally deficient child should be individualized, using findings from an appropriate history and physical examination. Depending on these findings the patient may be assigned to one of four subcategories, as determined by clinical indications and the patient's age at onset of the problem. These categories are (1) prenatal problem of morphogenesis, (2) perinatal insult to brain, (3) postnatal onset of brain dysfunction, and (4) undecided age at onset. This subcategorization has relevance to the type of diagnostic studies that may be indicated.

Using this approach, a retrospective study of the diagnostic evaluations of 98 mentally deficient children was performed. Ninety percent of these children were considered to have had "nonrational" laboratory tests, and of these, none contributed to elucidation of the basic diagnosis. The only tests that were valuable had been indicated by a specific historical or physical finding in addition to mental deficiency.

(Am J Dis Child 129:1285-1290, 1975)

REFERENCES

ABSTRACT | REFERENCES

Kaveggia EG, Durkin MV, Pendleton E, et al: Diagnostic genetic studies on 1,224 patients with severe mental retardation. Read before the Third Congress of the International Association for Scientific Study of Mental Deficiency, The Hague, Sept 4-12, 1973.

Jones KL, Smith DW, Harvey MA, et al: Older paternal age and presumed fresh mutant gene disorders: Additional data . J Pediatr 86:84-88, 1975;.

Perry TL, Hansen S, Tischler B, et al: Unrecognized adult phenylketonuria . N Engl J Med 289:395-398, 1973;.

Menkes JH, Aeberhard E: Maternal phenylketonuria . J Pediatr 74:924-931, 1969;.

Jones KL, Smith DW, Ulleland CN, et al: Pattern of malformation in offspring of chronic alcoholic mothers . Lancet 1:1267-1271, 1973;.

Smith DW, Gong BT: Scalp hair patterning as a clue to early fetal brain development . J Pediatr 83:374-378, 1973;.

Smith DW, Gong BT: Scalp-hair patterning: Its origin and significance relative to early brain and upper facial development . Teratology 9:17-34, 1974;.

Holmes LB, Moser HW, Halldórsson S, et al: Mental Retardation: An Atlas of Diseases With Associated Physical Abnormalities . New York, Macmillan Co, 1972;.

Caldwell PD, Smith DW: The XXY (Klinefelter's) syndrome in childhood: Detection and treatment . J Pediatr 80:250-258, 1972;.

Smith DW, Popich G: Large fontanels in congenital hypothyroidism: A potential clue toward earlier recognition . J Pediatr 80:753-756, 1972;.

Smith DW, Bostian KD: Congenital anomalies associated with idiopathic mental retardation . J Pediatr 65:189-196, 1964;.

Crome L: The brain and mental retardation . Br Med J 1:897-904, 1960;.

Carson NAJ, Neill DW: Metabolic abnormalities detected in a survey of mentally backward individuals in northern Ireland . Arch Dis Child 37:505-513, 1962;.

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