A newly published paper describes a study conducted by Bouchereau and colleagues on neurocognitive development in 21 children with MSUD in France. All of the children had classical MSUD and were diagnosed in the neonatal period. The children underwent neuropsychological testing between the ages of 6 and 12 years.

All but 3 of the children had IQ scores within the normal range. The 3 who scored a low IQ were diagnosed later and had poorer metabolic control. Almost all of the children had attention deficit disorder and hyperactivity. Testing showed impaired mental flexibility and inhibitory control with impulsivity. Verbal abilities were higher than performance abilities for some of the children.

The authors concluded that it is important for children with MSUD to undergo neurological testing so that appropriate interventions can be initiated.

J Inherit Metab Dis. 2017 Mar 21. doi: 10.1007/s10545-017-0033-7.
[Epub ahead of print]

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