Metabolic correlates of learning disability.
To summarize, the neuropsychologic findings in MSUD and MMA children in both groups demonstrated deficits in cognitive/language areas, but interesting individual differences existed. For example, a marked contrast in abilities existed between NT and GV, even taking into account the age difference between these children with MSUD. While NT's general intellectual functioning was within the low-average range, GV was severely impaired. In more specific areas of cognitive functioning, NT had an uneven performance profile with areas of strengths and weaknesses, while GV evidenced a flat profile with significant impairment in all areas. NT demonstrated mild delay in visual-spatial processing, articulation development, motor-speech abilities, and selective attention and concentration; however, his language and psychosocial development were within the broad range of normality. In contrast, GV exhibited severe dysfunction in speech, language, and perceptual/conceptual development. The three children with MMA also exhibited a range of disabilities in cognitive functioning. TJ and SH contrasted in the degree of developmental delay across language and cognitive domains. Both were distractible and exhibited very short attention spans but there was a measurable difference in the extent of their speech, language, visual-spatial development. CH was markedly delayed in all areas of cognitive development, which is consistent with global retardation. The severity of her disease and its probable impact on brain development were undoubtedly related to her intellectual impairment. These datasets illustrate the challenges we face, because within each group we see a range of impairment. Nevertheless, we are optimistic that our efforts to relate metabolic, anatomic and neuropsychologic findings for such children will lead to a better understanding of these disorders. We are hopeful that this will result in new advances in diagnosis and intervention, which will ultimately improve the prognosis for cognitive development. In summary, a multidisciplinary center has been established at UCSD to study the neurologic basis of disorders of language, learning and behavior in infants and children. The center draws together a group of researchers from many fields including neurology, biochemistry, pediatrics, cognitive and developmental neuropsychology, psycholinguistics, neurophysiology and communicative disorders. Because of the diverse interests and expertise of our group, it is hoped to forge a synthesis of the behavioral and neurosciences to study populations of children with a variety of neurologic, metabolic, and language/learning disorders. Disorders currently under study include Lesch-Nyhan disease, oculocutaneous tyrosinemia, propionic acidemia, carnitine palmityl transferase deficiency, Schwachman-Diamond syndrome, histidinemia, Hartnup disease, citrullinemia, galactosemia, maple syrup urine disease, and methylmalonic acidemia.(ABSTRACT TRUNCATED AT 400 WORDS)
Nyhan
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Department of Pediatrics, University of California, San Diego, La Jolla 92093-0609.
Wulfeck
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Tallal
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Marsden
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D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007805:Language Development Disorders / Q000378:metabolism* / Q000503:physiopathology / Q000523:psychology; D007807:Language Tests; D007859:Learning Disabilities / Q000378:metabolism* / Q000503:physiopathology / Q000523:psychology; D008297:Male; D008375:Maple Syrup Urine Disease / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000378:metabolism* / Q000503:physiopathology / Q000523:psychology; D008764:Methylmalonic Acid / Q000652:urine; D009483:Neuropsychological Tests; D011597:Psychomotor Performance
D008764:Methylmalonic Acid