Inborn error metabolic screening in nonsyndromic autism spectrum disorders.

Abstract

This commentary is on the original article by Campistol et al. on pages 842–847 of this issue. Kanner's original paper on autism was published in 1943,1 in which he summarized that children with autism have a disturbance as innate as those born with ‘physical or intellectual handicaps’. Since that time, the search to determine the etiologies of what is now known as autism spectrum disorder (ASD) has continued. Providers and carers are approached by parents who want answers pertaining to the cause of ASD, treatment possibilities, and the impact on quality of life of their child. In the participants they studied, Campistol et al.2 have made a paramount distinction between those with a primary autism phenotype and those with a higher likelihood of comorbidities, known syndromes, or genetic explanations for their autism. The consideration of inborn errors of metabolism (IEM) as causative for autism has been crucial since therapeutic options are defined and effective for some of these disorders.3 Furthermore, the diagnosis of an IEM has lifelong implications which need careful surveillance and medical management.4 Because genetic screening has yielded relevant and useful information which helps explain autism,2 it is logical that IEM may also be considered as potentially beneficial for those with ASDs since there are often overlapping characteristics. Campistol et al. concur with previous researchers who have critically analyzed whether screening for IEM should become a standard of care for patients with ASD, but have concluded that general screening for IEM in the autism population is neither cost-effective nor beneficial in the non-syndromic autism population.5 Being able to cite current research is an effective tool for clinicians and scientists who continue to empathize with parents in the ongoing search for what remains largely mysterious: the cause, effective treatments, and long-term implications of ASDs.