RESUMEN
BACKGROUND: Infants who do not pass their newborn hearing screen require diagnostic follow-up visits but often face access barriers such as travel distance and shortage of pediatric audiologists. Telemedicine (tele-audiology) is a potential solution to provide diagnostic hearing evaluations for families of infants facing access barriers. We determined the feasibility and impact of a tele-audiology program that provided comprehensive diagnostic evaluations to a region with a high lost to follow-up rate among newborns who did not pass their newborn hearing screen. MATERIALS AND METHODS: We evaluated the tele-audiology program using parent and provider surveys to determine the perception of quality and satisfaction of care. We also compared the lost to follow-up rate of the tele-audiology program with the loss to follow-up in the region before the implementation of the program. RESULTS: Twenty-two infants who did not pass their newborn hearing screen were referred to the tele-audiology program for diagnostic evaluation. Among these infants, 59.1% were diagnosed with some form of hearing loss. The mean quality score rated by both parents and providers on the telemedicine interaction was over 6.5 on a 7-point Likert scale. All parents rated the importance of tele-audiology as 7 (extremely important) for their family, whereas the provider rated the mean importance as 6.4 (95% confidence interval, 5.9, 6.9) on a 7-point Likert scale. Almost all parents actively participated or were engaged during history taking and counseling and were comfortable in discussing their child's hearing status remotely over telemedicine. All infants completed their diagnostic evaluation with no loss to follow-up compared with 22% loss to follow-up in the region before the implementation of the program. CONCLUSIONS: Tele-audiology is a feasible solution that reduces the loss to follow-up among infants who do not pass their newborn hearing screen and have access barriers to qualified audiologists for diagnostic evaluations.
RESUMEN
OBJECTIVES: Autosomal recessive long QT syndrome (LQTS), or Jervell and Lange-Nielsen syndrome (JLNS), can be associated with sensorineural hearing loss. We aimed to explore newborn hearing screening combined with electrocardiograms (ECGs) for early JLNS detection. STUDY DESIGN: In California, we conducted statewide, prospective ECG screening of children ≤ 6 years of age with unilateral or bilateral, severe or profound, sensorineural or mixed hearing loss. Families were identified through newborn hearing screening and interviewed about medical and family histories. Twelve-lead ECGs were obtained. Those with positive histories or heart rate corrected QT (QTc) intervals ≥ 450 ms had repeat ECGs. DNA sequencing of 12 LQTS genes was performed for repeat QTc intervals ≥ 450 ms. RESULTS: We screened 707 subjects by ECGs (number screened/number of responses = 91%; number of responses/number of families who were mailed invitations = 54%). Of these, 73 had repeat ECGs, and 19 underwent gene testing. No subject had homozygous or compound heterozygous LQTS mutations, as in JLNS. However, 3 individuals (with QTc intervals of 472, 457, and 456 ms, respectively) were heterozygous for variants that cause truncation or missplicing: 2 in KCNQ1 (c.1343dupC or p.Glu449Argfs*14; c.1590+1G>A or p.Glu530sp) and 1 in SCN5A (c.5872C>T or p.Arg1958*). CONCLUSIONS: In contrast to reports of JLNS in up to 4% of children with sensorineural hearing loss, we found no examples of JLNS. Because the 3 variants identified were unrelated to hearing, they likely represent the prevalence of potential LQTS mutations in the general population. Further studies are needed to define consequences of such mutations and assess the overall prevalence.