title: Audiological and genetics studies in high-risk infants.
abstract: Hearing is one of the main ways with which one person can contact the external world; it plays a key role in their integration with society.
  
  
  OBJECTIVE
  The objective of this study was to analyze the results of the hearing, medical and genetic evaluation of high-risk infants who failed the newborn hearing screening.
  
  
  METHODS
  Clinical and experimental study. We assessed thirty-eight neonates, with ages between one and six months. The infants underwent the following procedures: medical interview; immittance testing; Brainstem Auditory Evoked Potential; Transient Evoked Otoacoustic Emission and otorhinolaryngological evaluation. DNA extraction from the oral mucosa was performed for genetic studies using the protocol method adapted from the Human Genetics Lab of the CBMEG/UNICAMP.
  
  
  RESULTS
  Regarding gender and presence of risk factors, significant statistically differences were not found in normal hearing infants and in those with hearing loss. Concerning gestational age, term infants were more affected by hearing loss. Hearing loss was identified in 58% of the sample, conduction hearing loss represented 31.5% (12/38) and neurossensory 28.9% of cases. There were none of the genetic mutations most commonly seen in cases with a genetic etiology.
  
  
  CONCLUSIONS
  Hearing loss was identified in the majority of High-risk infants.
authors.affiliation: Curso de Fonoaudiologia, Faculdade de Ciências Médicas, Unicamp.
authors.forename: Maria Francisca
authors.initials: MF
authors.lastname: Colella-Santos
authors.forename: Maria de Fátima de Campos
authors.initials: Mde F
authors.lastname: Françozo
authors.forename: Christiane Marques
authors.initials: CM
authors.lastname: do Couto
authors.forename: Maria Cecilia Marconi Pinheiro
authors.initials: MC
authors.lastname: Lima
authors.forename: Tatiana Guilhermino
authors.initials: TG
authors.lastname: Tazinazzio
authors.forename: Arthur Menino
authors.initials: AM
authors.lastname: Castilho
authors.forename: Edi Lucia
authors.initials: EL
authors.lastname: Sartorato
mesh_terms: D001300:Audiometry, Evoked Response; D003430:Cross-Sectional Studies; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology*; D005260:Female; D005865:Gestational Age; D006314:Hearing Loss, Conductive / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology*; D012307:Risk Factors; D012720:Severity of Illness Index; D012737:Sex Factors