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

Shivani Tiwari1, Divya Kallianpur1, Kelly Ann DeSilva1

  • 1Department of Speech and Hearing, School of Allied Health Sciences, Manipal University, Manipal, Karnataka, India.

Indian Journal of Psychological Medicine
|May 19, 2017
PubMed

Insights

Communication disorders are common in children with Inborn Errors of Metabolism (IEMs), with speech and language delays being the most frequent. This study highlights the need for early identification and intervention in this vulnerable pediatric population.

Area of Science:

  • Pediatric Genetics
  • Neurodevelopmental Disorders
  • Communication Sciences

Background:

  • Inborn Errors of Metabolism (IEMs) are genetic conditions primarily affecting children.
  • While IEM diagnosis has advanced, communication impairments in affected children remain understudied.
  • Understanding these communication challenges is crucial for comprehensive patient care.

Purpose of the Study:

  • To identify and characterize communication impairments in children diagnosed with IEMs.
  • To profile the types and prevalence of communication disorders within this specific pediatric group.
  • To raise awareness of communication deficits associated with IEMs.

Main Methods:

  • Retrospective analysis of medical records from a tertiary care hospital (2005-2014).
  • Review of demographic data, clinical manifestations, and laboratory findings.
  • Identification of reported communication impairments and associated developmental disorders.

Main Results:

  • Children with IEMs presented with diverse clinical and laboratory findings.
  • Risk factors such as consanguinity and family history were noted.
  • Delayed speech and language development were the most prevalent communication disorders observed in nearly half of the children with IEMs.

Conclusions:

  • Communication disorders are a significant concern in children with IEMs.
  • The findings underscore the importance of screening for communication impairments in pediatric IEM cases.
  • Further research is warranted to explore the specific mechanisms and effective interventions for these disorders.
Abstract

Keywords:
CommunicationIndianinborn errors of metabolismretrospective

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