Assessing Autism in Deaf/Hard-of-Hearing Youths: Interdisciplinary Teams, COVID Considerations, and Future Directions.

Autism spectrum disorders are more prevalent in children who are Deaf or Hard of Hearing (D/HH) than in the general population. This potential for diagnostic overlap underscores the importance of understanding the best approaches for assessing autism spectrum disorder in D/HH youths. Despite the recognition of clinical significance, youths who are D/HH are often identified as autistic later than individuals with normal hearing, which results in delayed access to appropriate early intervention services. Three primary barriers to early identification include behavioral phenotypic overlap, a lack of "gold-standard" screening and diagnostic tools for this population, and limited access to qualified clinicians. In the current article, we seek to address these barriers to prompt an appropriate identification of autism by providing recommendations for autism assessment in children who are D/HH from an interdisciplinary hearing and development clinic, including virtual service delivery during COVID-19. Strengths, gaps, and future directions for implementation are addressed.

A Hearing Screening Pilot Study With Students With Significant Cognitive Disabilities.

Purpose Many children with severe intellectual and developmental disabilities are at a higher risk for hearing loss than their peers who are typically developing. Unfortunately, they do not consistently participate in routine school-based hearing screenings. The current study investigated the feasibility of increasing their participation using an otoacoustic emissions protocol and documented results relative to student educational profiles. Method A total of 43 students with significant cognitive disabilities enrolled at a public school exclusively serving this population participated in the study. All but 9, who were excluded because of known hearing loss, were screened by a licensed audiologist assisted by audiology doctoral students. The protocol included otoscopy, tympanometry, distortion product otoacoustic emissions (DPOAEs), and teacher surveys. Results DPOAE screening was attempted on 33 students without previously diagnosed hearing loss and successfully completed for 26 (78.8%). Two students (4.6%) with absent otoacoustic emissions and normal tympanograms were referred for further assessment due to concerns about possible sensorineural hearing loss in one or both ears, and 10 (23.3%) had abnormal tympanograms in one or both ears. Conclusions Considering the high risk of sensorineural hearing loss for children with significant disabilities, it is important for them to be included in school hearing screenings. The results of this study demonstrate the feasibility of using DPOAEs for school-based hearing screenings with this population with an interprofessional team of licensed audiologists, educators, and speech-language pathologists. The results further suggest that students with significant disabilities and hearing loss may be unidentified and underserved. Given the complex needs of this population, an interprofessional practice model for hearing screenings and intervention services is recommended.

Growth hormone treatment does not affect incidences of middle ear disease or hearing loss in infants and toddlers with Turner syndrome.

CONTEXT: No randomized, controlled, prospective study has evaluated the effect of growth hormone (GH) on the rates of middle ear (ME) disease and hearing loss in girls with Turner syndrome (TS). DESIGN: A 2-year, prospective, randomized, controlled, open-label, multicenter, clinical trial ('Toddler Turner Study'; August 1999 to August 2003) was carried out. SETTING: The study was conducted at 11 US pediatric endocrine centers. SUBJECTS: Eighty-eight girls with TS, aged 9 months to 4 years, were enrolled. INTERVENTION: The interventions comprised recombinant GH (50 microg/kg/day, n = 45) or no treatment (n = 43) for 2 years. MAIN OUTCOME MEASURES: The outcome measures included occurrence rates of ear-related problems, otitis media (OM) and associated antibiotic treatments, tympanometric assessment of ME function and hearing assessment by audiology. RESULTS: At baseline, 57% of the girls (mean age = 1.98 +/- 1.00 years) had a history of recurrent OM, 33% had undergone tympanostomy tube (t-tube) insertion and 27% had abnormal hearing. There was no significant difference between the treatment groups for annual incidence of OM episodes (untreated control: 1.9 +/- 1.4; GH-treated: 1.5 +/- 1.6, p = 0.17). A quarter of the subjects underwent ear surgeries (mainly t-tube insertions) during the study. Recurrent or persistent abnormality of ME function on tympanometry was present in 28-45% of the girls without t-tubes at the 6 postbaseline visits. Hearing deficits were found in 19-32% of the girls at the annual postbaseline visits. Most of these were conductive deficits, however, 2 girls had findings consistent with sensorineural hearing loss, which was evident before 3 years of age. CONCLUSIONS: Ear and hearing problems are common in infants and toddlers with TS and are not significantly influenced by GH treatment. Girls with TS need early, regular and thorough ME monitoring by their primary care provider and/or otolaryngologist, and at least annual hearing evaluations by a pediatric audiologist.

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective.

UNLABELLED: Lysosomal storage diseases and related disorders (LSRDs) are a heterogeneous group of rare diseases caused by genetic mutations that result in deficiencies of specific lysosomal enzymes. Some of these enzymes are necessary for normal development of the central and peripheral nervous systems. Because of the heterogeneity in clinical presentation and complexity of these disorders, evaluation of disease progression poses unique challenges. In recent years, recombinant enzyme replacement therapy and haematopoietic stem cell transplantation have been developed to treat some of these diseases. With the development of specific therapies and screening programmes, there is a need to systematically follow the natural course and effects of treatment in these disorders with standardized and validated tools. This review describes the limitations of currently available neurobehavioural tools in longitudinally tracking disease outcomes in patients with neurodegenerative LSRDs. A multidisciplinary team reviewed over 750 evaluations in 274 patients. These patients were found to have neurological, sensory and somatic problems that considerably influence the results of neurobehavioural testing. CONCLUSION: Treatment effects in patients with neurodegenerative LSRDs are best evaluated by repeated measures and longitudinal analysis of each domain of function.

Early otitis media with effusion, hearing loss, and auditory processes at school age.

OBJECTIVES: To examine the effect of conductive hearing loss (HL) secondary to otitis media with effusion (OME) in the first 3 years of life on physiologic, peripheral, and higher-order behavioral auditory measures examined at school age. METHODS: Peripheral hearing sensitivity for conventional and extended high-frequency audiometric ranges, physiologic (distortion product otoacoustic emissions, contralateral and ipsilateral acoustic middle ear muscle reflexes), auditory brain stem response (ABR), and higher-order auditory processing measures (masking level difference; Virtual Auditory Localization, Speech Intelligibility Gain; adaptive Pediatric Speech Intelligibility task) were examined at the end of the second grade of elementary school in two cohorts (North Carolina, N = 73, and New York, N = 59). All participants (mean age, 8 years) were followed prospectively in infancy and early childhood (7 to 39 months) for middle ear status and hearing loss (using pneumatic otoscopy/tympanometry and repeated conditioned behavioral audiometric response procedures). Multivariate analyses were conducted to address whether early OME and early conductive HL were related to physiologic, peripheral, and higher-order auditory processes. RESULTS: Early hearing loss and OME were significantly associated with peripheral hearing at school age; extended high-frequency thresholds accounted for the result. Similarly, hearing loss in early life and OME were significantly associated with the acoustic middle ear muscle reflex: The contralateral stimulation condition accounted for the association. Significant associations with both early OME and early HL were also found for the auditory brain stem response measure and were explained by the correlations between early hearing loss and the ABR Wave V latency but not other ABR indices. There were no reliable associations between either early OME or early HL on any other auditory processes evaluated at the end of second grade. CONCLUSIONS: Extended high-frequency hearing and brain stem auditory pathway measures in childhood were significantly associated with children's experiences with OME and hearing loss from 7 to 39 months of age. However, no significant associations were found for psychoacoustic measures of binaural processing or a behavioral adaptive speech-in-noise test at school age.

Auditory brainstem responses in young males with Fragile X syndrome.

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation resulting in developmental delays in males. Atypical outer ear morphology is characteristic of FXS and may serve as a marker for abnormal auditory function. Despite this abnormality, studies of the hearing of young males with FXS are generally lacking. A few studies have suggested that a significant proportion of individuals with FXS demonstrate prolonged auditory brainstem response (ABR) latencies. The purpose of this study was to determine whether young males with FXS display atypical auditory brainstem function compared to typically developing males when conductive and sensorineural hearing loss are ruled out as possible contributors to atypical findings. Participants were 23 males with FXS, 21 typically developing males who were matched for developmental age, and 17 typically developing males who were matched for chronological age. A battery of tests to assess peripheral hearing, cochlear function, and auditory pathway integrity through the level of the brainstem was completed. Males with FXS were similar to typically developing males who were matched for developmental age level or chronological age level on all measures. They had normal hearing sensitivity and middle ear function and scored similar to the typically developing children on the measures of auditory brainstem pathway integrity. In summary, ABRs in young males with FXS were within normal limits.

Trends in age of identification and intervention in infants with hearing loss.

OBJECTIVE: In 1993, 11 hospitals in the United States were known to screen more than 90% of newborns for hearing loss. By 2000, approximately 1,000 hospitals reported screening at least 90% of their babies. This study was designed to identify trends in the age of identification and intervention for infants and young children with hearing loss in light of expanded implementation of newborn hearing screening. DESIGN: Parents of children under 6 yr of age with a confirmed hearing loss were surveyed. The survey instrument was designed to investigate three questions: 1) is the age of identification and intervention earlier for babies whose hearing is screened at birth compared with those whose hearing is not screened; 2) when hearing is screened at birth, do ages of diagnosis of hearing loss and intervention meet the guide-lines established in 2000, by the Joint Committee on Infant Hearing (Reference Note 1), and 3) what are the barriers to timely identification and intervention? Six hundred fifty-seven parents received the mailing. RESULTS: Responses of 151 parents of children with hearing loss, born between 1996 and 2000, were analyzed. Parents from 41 states provided information. Approximately half the children reported on were screened for hearing loss at birth. Age of identification and hearing aid fitting varied substantially based on degree of hearing loss and whether the cause of hearing loss was known or unknown; however, diagnosis and intervention occurred at an earlier age for infants screened at birth. Findings indicate that when hearing is screened at birth, infants with more severe degrees of hearing loss and an unknown cause tend to be identified and receive intervention within the 2000 timelines proposed by the Joint Committee on Infant Hearing. Barriers to timely identification and intervention are discussed. CONCLUSIONS: Before widespread implementation of newborn hearing screening, age of identification and intervention were consistently reported to exceed 2 yr of age. The results reported here indicate a trend toward earlier identification and hearing aid fitting with the implementation of newborn hearing screening. Although limited to literate and English speaking respondents, the study provides supporting evidence that newborn hearing screening lowers the ages of identification and intervention.