School-age children with specific language impairment (SLI) and age-matched controls were tested for immediate recall of digits presented visually, auditorily, or audiovisually. Recall tasks compared speaking and pointing response modalities. Each participant was tested at a level that was consistent with her or his auditory short-term memory span. Traditional effects of primacy, recency, and modality (an auditory recall advantage) were obtained for both groups. The groups performed similarly when audiovisual stimuli were paired with a spoken response, but children with SLI had smaller recency effects together with an unusually poor recall when visually presented items were paired with a pointing response. Such results cannot be explained on the basis of an auditory or speech deficit per se, and suggest that children with SLI have difficulty either retaining or using phonological codes, or both, during tasks that require multiple mental operations. Capacity limitations, involving the rapid decay of phonological representations and/or performance limitations related to the use of less demanding and less effective coding and retrieval strategies, could have contributed to the working memory deficiencies in the children with SLI.

Williams syndrome (WS) is a genetic neurodevelopmental disorder, most often accompanied by mild-to-moderate mental retardation. Individuals with WS show unique communication strengths and impairments that are challenging to treat in community, educational, and vocational settings. Many issues regarding characteristics of auditory sensitivity in WS remain to be resolved. Our purpose was to obtain behavioral (screening and pure-tone audiometry) and objective (distortion product otoacoustic emission-DPOAE) measures of auditory system function from a group of 27 individuals with WS, 6-48 years of age. These measures were gathered both at an international professional conference (n = 19) and in a clinic setting (n = 8). In the behavioral screening conditions, 16/19 (84%) of the individuals failed the hearing screening; and in the behavioral diagnostic hearing condition, 6/8 (75%) demonstrated sensorineural hearing loss (SNHL) and 1/8 demonstrated a hearing loss of undetermined type. In the objective DPOAE testing, 19/25 (76%) had DPOAE absolute amplitudes below the 5th percentile for ears with normal hearing [Gorga et al. (1997); Ear Hear 18(6):440-455]. We report SNHL in 14/18 (78%) of school-age children with WS. Post hoc analyses revealed a significant effect for age, suggesting a pattern of progressive hearing loss. An effect size analysis indicated a clinically meaningful difference in the hearing sensitivity between school-aged children and adults in the high frequencies (4,000 and 8,000 Hz). Similar hearing loss phenotype was observed in patients with familial nonsyndromic supravalvular aortic stenosis (SVAS), suggesting that molecular defects in the elastin gene in the pathogenesis of SNHL in WS. This study highlights the importance of early and regular hearing testing for WS patients and suggests that elastin may have a previously unappreciated function in maintaining hearing sensitivity.

Hearing loss is common in school-age individuals with Williams syndrome (WS) and extensive in adults. Prior studies with relatively small sample sizes suggest that hearing loss in WS has an early onset and may be progressive, yet the auditory phenotype and the scope of the hearing loss have not been adequately characterized. We used standard audiometric tools: Otoscopy, tympanometry, air-conduction (bone conduction when available) behavioral testing, and distortion product otoacoustic emissions (DPOAEs) to measure hearing sensitivity and outer hair cell function. We tested 81 individuals with WS aged 5.33 to 59.50 years. 63% of the school-age and 92% of the adult participants had mild to moderately-severe hearing loss. The hearing loss in at least 50% was sensorineural. DPOAE testing corroborated behavioral results. Strikingly, 12 of 14 participants with hearing within normal limits bilaterally had 4000-Hz DPOAE input/output (DPOAE IO) functions indicative of outer hair cell damage and impaired cochlear compression. Our results indicate that hearing loss is very common in WS. Furthermore, individuals with WS who have “normal” hearing as defined by behavioral thresholds may actually have sub-clinical impairments or undetected cochlear pathology. Our findings suggest outer hair cell dysfunction in otherwise normal hearing individuals. The DPOAE IO in this same group revealed growth functions typically seen in groups with noise-induced damage. Given this pattern of findings, individuals with WS may be at increased risk of noise-induced hearing loss. Recommendations regarding audiological testing for individuals with WS and accommodations for these individuals in both academic and nonacademic settings are provided.

This study was designed to investigate early auditory memory and its possible contribution to an auditory processing deficit shown by some children with language impairment. Ten children with language impairment and 10 age-matched controls participated in a series of simultaneous and backward masking tasks. The same backward masking stimulus was then used to elicit a mismatch negativity response. In the behavioral conditions, children in the language impairment group had significantly higher (poorer) signal thresholds than their nonimpaired controls in backward masking, but their thresholds in simultaneous masking were not significantly different. In the mismatch-negativity conditions, latency was prolonged and the amplitude was diminished in the children with language impairment. Taken together, these psychoacoustic and electrophysiological data suggest that in a group of children with language impairment, underlying the nonsensory language disorder, there is a neurophysiological impairment in auditory memory for complex, nonlinguistic sounds.