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Abstract
Children with medium chain acyl coenzyme A dehydrogenase deficiency (MCADD) have been reported to be at high risk for neurocognitive deficits. However this has not been systematically studied and little is known about the exact nature of neuropsychological sequelae or of the impact of early diagnosis and screening on outcome. We examined cognitive and adaptive outcome in children with MCADD (N = 38, age range: 2 years, 2 months – 10 years, 3 months) diagnosed either through a newborn screening program (tandem mass spectrometry/MSMS) or upon clinical presentation. There was no evidence of overall intellectual impairment in either groups but there was some suggestion of poorer verbal and specific executive functioning (i.e., planning) abilities in the unscreened cohorts. Adaptive functioning was relatively intact with the exception of reduced Daily Living Skills in both our screened and unscreened groups. Early diagnosis and greater number of hospitalizations were related to higher verbal, communication, and socialization skills. Overall, our results highlight the importance of early diagnosis and management for children with MCADD.
Acknowledgments
This study was supported by a grant from The National Health and Medical Research Council of Australia.
Notes
1Socioeconomic status (SES) measures were not included. The study sample represents a significant proportion of the surviving population (25/52) of all children born in Australia with this condition from April 1994 to April 2002. MSMS screening is a population-based screening program available universally to all newborns, and any SES differences in the unscreened group are unlikely due to the fact that children who are diagnosed with MCADD clinically present with severe, if not life-threatening, illness.