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Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism

Mariana Germano Gejão1, Amanda Tragueta Ferreira, Greyce Kelly Silva

  • 1Department of Speech-Language Pathology and Audiology, Bauru School of Dentistry, University of São Paulo, Bauru, SP, Brazil.

Journal of Applied Oral Science : Revista FOB
|April 19, 2011
PubMed

Insights

Congenital hypothyroidism (CH) and phenylketonuria (PKU) can impact children's development and communication skills. Early speech and language therapy is crucial for social integration and learning in affected children.

Area of Science:

  • Medical Genetics
  • Developmental Pediatrics
  • Speech-Language Pathology

Background:

  • Neonatal screening programs identify infants with inborn errors of metabolism like congenital hypothyroidism (CH) and phenylketonuria (PKU).
  • Early diagnosis and intervention are critical for managing CH and PKU to mitigate developmental impacts.
  • A partnership between a neonatal screening program and a university's speech-language pathology department was established to research developmental outcomes.

Purpose of the Study:

  • To describe the communicative and psycholinguistic abilities of children diagnosed with CH and PKU.
  • To identify potential developmental risks and alterations in these children.

Main Methods:

  • Sixty-eight children (25 with PKU, 43 with CH) aged 1-120 months participated.
  • A battery of standardized tests assessed communication behavior, language milestones, vocabulary, developmental level, and psycholinguistic abilities.
  • Instruments were selected based on children's age and developmental stage.

Main Results:

  • Children with PKU and CH are at risk for alterations in motor, cognitive, linguistic, adaptive, and personal-social abilities, particularly in early childhood.
  • Psycholinguistic alterations were noted, especially post-preschool age.
  • CH was associated with attention deficits, language, and cognitive issues; PKU with attention deficits, hyperactivity, and personal-social/motor adaptive challenges.

Conclusions:

  • CH and PKU can lead to significant communicative and psycholinguistic deficits.
  • These deficits can impair social integration and learning.
  • Speech and language pathology intervention is essential for individuals with CH and PKU to address these challenges.
Abstract

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