Navegando por Palavras-chave "Phenylketonurias"

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    Alterações auditivas e fenilcetonúria: uma revisão sistemática
    (CEFAC Saúde e Educação, 2010-02-01) Mancini, Patrícia Cotta [UNIFESP]; Starling, Ana Lúcia Pimenta; Alves, Cláudia Fernanda Tolentino; Martins, Thaís Maria da Mata; Iorio, Maria Cecilia Martinelli [UNIFESP]; Universidade Federal de Minas Gerais Curso de Graduação em Fonoaudiologia; Universidade Federal de Minas Gerais Faculdade de Medicina Departamento de Pediatria; Universidade Federal de São Paulo (UNIFESP)
    BACKGROUND: phenylketonuria is a genetic disorder that causes biochemical alterations, leading to a deficiency in the synthesis of proteins and neurotransmitters and thereby hindering the myelination process. Structural and functional changes in myelin can alter neural conductivity patterns and or reduce synaptic connection in individuals with phenylketonuria. Essentially, a dietary treatment should be implemented in the first weeks of life in order to avoid clinical and biochemical manifestations of the disease. When diet is continually maintained, children with phenylketonuria show normal development. However, deficits in executive functions, interhemispherical interaction, language and memory have been observed even in children with early treatment and appropriate diet. Some researches were carried out for investigating the relationship between phenylketonuria and alterations in the hearing function. PURPOSE: to systematically review articles dedicated to the research of relationship between hearing disorders and hyperphenylalaninaemias, highlighting the classic phenylketonuria. The bibliographical references were obtained through research in the databases: Lilacs, Medline, Cochrane Library and Scielo and through search in the reference list of the identified and selected articles. CONCLUSION: the relationship among hyperphenylalaninaemias, including phenylketonuria, and hearing alterations is still controversial in the literature. It is suggested that more investigations as for the hearing function are necessary on those individuals in order to elucidate this possible relationship.
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    Crianças com fenilcetonúria: avaliação audiológica básica e supressão das otoemissões
    (Sociedade Brasileira de Fonoaudiologia, 2012-01-01) Ribeiro, Patrícia Souza; Torres, Tatiana Lopes; Starling, Ana Lúcia Pimenta; Iorio, Maria Cecilia Martinelli [UNIFESP]; Mancini, Patrícia Cotta [UNIFESP]; Universidade Federal de Minas Gerais; Universidade Federal de São Paulo (UNIFESP)
    PURPOSE: To evaluate the auditory pathways of children with early-treated phenylketonuria through audiometry, immitance tests, and suppression of transient otoacoustic emissions. METHODS: Prospective cross-sectional study with sample composed by 28 children: 12 with phenylketonuria and 16 without the disease. Participants underwent auditory evaluations composed of air- and bone-conduction pure-tone audiometry, speech audiometry, immittance tests and suppression of transient otoacoustic emissions. RESULTS: All participants presented normal results in pure-tone and speech audiometry; however, speech discrimination scores were lower on the phenylketonuria group. Immitance tests revealed normal tympanograms for all children, but stapedial reflex thresholds demonstrated higher thresholds in 2 and 4 kHz for children with phenylketonuria. The suppresion of transient otoacoustic emissions did not show difference in the comparison between groups. CONCLUSION: The basic audiologic assessment do not identify hearing disorders in children with phenylketonuria; however, speech discrimination scores were lower and stapedial reflexes were higher in these children, which may indicate auditory processing disorders. The study of the suppression of transient otoacoustic emissions demonstrated integrity of the olivocochlear efferent system in children with phenylketonuria.