Children With Phenylketonuria Treated Early: Basic Audiological and Electrophysiological Evaluation

Children With Phenylketonuria Treated Early: Basic Audiological and Electrophysiological Evaluation

Author Mancini, Patrcia Cotta Google Scholar
Durrant, John D. Google Scholar
Pimenta Starling, Ana Lucia Google Scholar
Iorio, Maria Cecilia Martinelli Autor UNIFESP Google Scholar
Institution Universidade Federal de Minas Gerais (UFMG)
Univ Pittsburgh
Universidade Federal de São Paulo (UNIFESP)
Abstract Objectives: Individuals with phenylketonuria (PKU) can exhibit deficits in executive functions, intelligence, attention, visual-spatial processing abilities, and efficiency stemming presumably from deficient neurotransmitter synthesis, even when the disorder is diagnosed and treated early. Basic audiological and electrophysiological evaluations were used to examine the peripheral and central auditory pathways of children with early-treated PKU, who followed adequate versus inadequate diets. Results were compared with those of age-matched children without PKU.Design: the control group included 35 children aged 5 to 16 years, and the experimental group included 25 children with classic PKU, all of whom were diagnosed and treated early. the experimental group comprised children of two subgroups, divided according to their dietary control, as follows: 8 children aged 6 to 13 years with adequate diets (group A); 17 children ages 6 to 15 years demonstrating inadequate diets (group B). All participants underwent auditory evaluations, including otoscopy, pure-tone and speech audiometry, immittance testing (tympanometry and assessment of contralateral stapedial reflex thresholds), and evaluations of auditory brainstem and middle latency responses. the demographic variables and audiological examination results were analyzed for all groups. Results among groups and subgroups were compared using analysis of variance with repeated measures to test statistical significance across factors and measures at the p = 0.05 level.Results: Audiometric evaluation revealed results within normal limits for all groups, except for one child from the inadequate diet group, who showed a mild bilateral conductive hearing loss. Results of speech and immittance audiometry suggested the children in group B as having poorer average speech-discrimination scores and higher stapedial reflex thresholds at 4000 Hz. Auditory brainstem response results revealed longer average latencies for waves III and V and greater interaural differences for wave V in group B, although both groups A and B showed longer average latencies for the interpeak interval I-V, compared with the control group. Middle latency responses showed no significant differences in the latencies of the Na and Pa waves or the Na-Pa amplitude for the experimental group, but electrode or ear effects were present in 87.5% of group A and 58.8% of group B.Conclusions: Overall, differences observed tended to be small (by clinical diagnostic standards), yet suggest that children with PKU exhibit some effect of this disorder on the pontine auditory pathway, even when diagnosed/treated early and independent of the appropriateness of diet. It thus seems prudent to follow PKU children with auditory processing assessments to evaluate functional implications of these findings. (Ear & Hearing 2013;34;236-244)
Language English
Sponsor Center for Action and Research in Diagnosis Support (Nucleo de Pesquisa em Apoio Diagnostico [NUPAD]) of the Medical School of the Federal University of Minas Gerais, Brazil
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Grant number CAPES: 1023/07-1
Date 2013-03-01
Published in Ear and Hearing. Philadelphia: Lippincott Williams & Wilkins, v. 34, n. 2, p. 236-244, 2013.
ISSN 0196-0202 (Sherpa/Romeo, impact factor)
Publisher Lippincott Williams & Wilkins
Extent 236-244
Access rights Closed access
Type Article
Web of Science ID WOS:000315574200014

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