Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.

A Brown, L Crowe, Brage Storstein Andresen, V Anderson, A Boneh

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


Background: Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder of fatty acid oxidation with an estimated incidence of between 1:31,500 and 1:125,000. There is limited information regarding neurodevelopmental outcomes, probably because the disorder is perceived as affecting the skeletal and heart muscles, and many children are deemed asymptomatic. The aim of this study was to utilise a comprehensive neuropsychological assessment battery that assessed IQ, language, attention, memory, executive functioning, motor skills, behaviour, and social skills in children 4 to 10. years old diagnosed with VLCAD deficiency through newborn screening. Method: Seven children completed neuropsychological assessment and one child was only involved in part of the study (2 female, 6 male). Parents completed questionnaires regarding executive functioning, behaviour and social skills. Results: IQ scores ranged from average to the superior range. No deficits were found in fine or gross motor skills. One patient had a mild language deficit, and two patients had previously required speech therapy. Verbal memory, attention and executive functioning skills were generally average or above. Visual memory scores were mostly above average. Parents' questionnaires identified one child as having social skills deficits, and two as having behavioural problems such as hyperactivity. One child rated high on an autism spectrum subscale another was formally diagnosed with autism spectrum disorder-both children were symptomatic at birth. Conclusions: VLCAD deficiency does not have a significant impact on cognitive or motor skills. Some children may be vulnerable to speech, social and behavioural issues.

TidsskriftMolecular Genetics and Metabolism
Udgave nummer4
Sider (fra-til)278-282
StatusUdgivet - dec. 2014


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