Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study.

Purpose: Inborn Errors of Metabolism (IEMs) are a group of complex genetic conditions, predominantly affecting the pediatric population. While the understanding and identification of various IEMs has significantly improved over recent times, not much is known about the communication disorders in this population. The present study focused on identification and profiling of communication impairments in children diagnosed with IEMs.

Methods: Data was obtained retrospectively from medical records of children visiting a tertiary care hospital over a period of ten years (2005 - 2014). Selected data was reviewed to obtain demographic details, clinical signs/manifestations, laboratory findings, risk factors, developmental disorders and reported communication impairments.

Results: The findings of the study showed a variety of clinical signs and laboratory findings in children with inborn errors of metabolism. A few of the risk factors observed in the group were consanguinity, sibling death and family history of other disorders. Many children with IEM displayed communication disorders, most common as the delay in speech and language development.

Conclusions: The results of this study showed that various communication disorders were seen in almost half of the children with a diagnosis of IEM. Findings are discussed with implications for future research in this direction.