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• W2076880368 abstract "National guidelines for aetiologic investigation of childhood deafness were developed as the Newborn Hearing Screening Program (NHSP) was being implemented in the United Kingdom. This guidance document was expected to be incorporated into the operational procedure of the NHSP.This criterion-based audit compared local care set against developed guidelines that can be used to assess the appropriateness of specific investigations, services and outcomes. Data on children diagnosed to have sensorineural deafness from March 2002-2004 were extracted from an established computerized database for analysis.Forty-seven children were included; 17 have bilateral severe to profound hearing loss, 25 have bilateral mild to moderate loss and 5 with unilateral loss. A high proportion of Pakistani children were from consanguineous marriages with a family history of deafness. Total 29.8% of children were diagnosed through newborn screening and 70.2% detected through hearing surveillance programmes. For children with bilateral severe to profound deafness, 53.0% accepted, 5.9% declined and 41.2% were not offered imaging of their inner ears. A total of 47.1% accepted and 52.9% declined electrocardiograph (ECG) evaluation. Total 70.6% accepted and 29.4% declined connexin mutations testing. Parental requests were required for those with lesser degree of hearing loss. Total 24% accepted, 28% declined and 48% were not offered connexin testing. None were offered ECG and imaging. Testing for congenital infections was inappropriate for children over 1 year old. Ten subjects accepted and five declined this investigation. In the total group, 63.8% accepted, 17.0% declined and 19.1% were not offered referral to the ophthalmic service. Total 46.8% accepted, 44.7% declined and 8.5% were not offered referral to genetics service. Investigations resulted in two connexin-positive children with moderate loss.Our study identified key areas where guidelines were not followed. These were related to lack of funding and parental choice. This sample has a higher connexin 'hit' rate for lesser degree deafness." @default.
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• W2076880368 date "2005-11-01" @default.
• W2076880368 modified "2023-10-18" @default.
• W2076880368 title "Audit of local performance compared with standards recommended by the national guidelines for aetiologic investigation of permanent childhood hearing impairment" @default.
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• W2076880368 doi "https://doi.org/10.1111/j.1365-2214.2005.00558.x" @default.
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