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Permanent Childhood Hearing Impairment: Aetiological Evaluation of Infants identified through the Irish Newborn

A Smith1, A O'Connor2, S Hennessy3

  • 1Department of Paediatrics, Cork University Hospital, Cork, Ireland.

Irish Medical Journal
|February 22, 2018
PubMed

Insights

The Newborn Hearing Screening Programme identified 42 infants with permanent childhood hearing impairment (PCHI). Etiological workups revealed genetic mutations and congenital infections as causes, highlighting areas for service improvement in Ireland.

Area of Science:

  • Pediatrics
  • Genetics
  • Audiology

Background:

  • The Newborn Hearing Screening Programme (NHSP) was implemented at Cork University Maternity Hospital (CUMH) in 2011.
  • Between 2011 and 2014, 42 infants were diagnosed with Permanent Childhood Hearing Impairment (PCHI).

Purpose of the Study:

  • To review the aetiological workup findings for infants diagnosed with PCHI.
  • To assess the effectiveness of diagnostic protocols in identifying the causes of PCHI.

Main Methods:

  • Retrospective chart review of infants diagnosed with PCHI.
  • Data collected from the eSP database, a web-based information system for tracking screening and referrals.

Main Results:

  • 38% of infants (16/42) had bilateral sensorineural hearing loss.
  • Identified causes included congenital CMV infection (2 infants), Connexin 26 gene mutation (1 infant), Waardenburg syndrome (2 infants), Pendred syndrome (1 infant), and Pfeiffer syndrome (1 infant).
  • Five infants underwent cochlear implantation.

Conclusions:

  • Adherence to recommended protocols can help determine the cause of PCHI.
  • The study identified areas for future improvement within the Irish newborn hearing screening and diagnostic services.

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