RESUMO
Objective:To explore the value and influencing factors of behavioral audiometry in subjective hearing assessment of children. Methods:The results of behavioral audiometryï¼visual reinforcement audiometry or play audiometryï¼ of 1944 childrenï¼3888 earsï¼ in the outpatient department from January 2012 to December 2015 were retrospectively analyzed. The subjective performanceï¼" good ", "moderate", "poor", " unfinished "ï¼ was compared according to age and hearing level. SPSS 27.0 software was used for statistical analysis. Results:The subjective performance of children was "good" in 2791 earsï¼71.8%ï¼, "moderate" in 411 earsï¼10.6%ï¼, "poor" in 309 earsï¼7.9%ï¼ and " unfinished " in 377 earsï¼9.7%ï¼. In visual reinforcement audiometry, the proportion of children who subjectively performed as "good" gradually increased with age, reaching the peak at 2 years old, and decreased with age after 2 years old. In play audiometry, the proportion of children who subjectively performed as "good" gradually increased with age, peaking at 4-5 years of age. The children who did not finish the test were mainly 1-3 years old. The reasons included uncooperation for 148 ears, crying for 95 ears, refusing to wear headphones for 57 ears, fatigue for 42 ears, lack of interest for 20 ears, not understanding for 14 ears, and distraction for 1 ear. Conclusion:Behavioral audiometry was helpful to assess children's subjective hearing, and children's subjective performance was good. In clinical work, more novel and attractive test materials and methods should be adopted or developed according to the physical and mental characteristics of young children.
Assuntos
Audiometria , Testes Auditivos , Criança , Humanos , Pré-Escolar , Lactente , Estudos Retrospectivos , Limiar Auditivo , Audição , Audiometria de Tons Puros/métodosRESUMO
A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a customized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagnosis (PGD), noninvasive prenatal testing (NIPT), and noninvasive prenatal diagnosis (NIPD) into the strategy. Auditory and genetic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a singleton pregnancy. At the 13th week of gestation, genomic DNA (gDNA) from the trio family and cell-free DNA (cfDNA) from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by invasive procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing impairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders.