ArticleIndian journal of psychological medicine
Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study.
Article in Indian journal of psychological medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 5 citations in OpenAlex.
- Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick disease.BMJ case reports · 2021Article
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3 authors at 1 institution in 1 country.
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Abstract
purposeInborn 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.
methodsData 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.
resultsThe 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.
conclusionsThe 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.
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