Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond.

BACKGROUND: Newborn screening (NBS) identifies infants with severe, early-onset diseases, enabling early diagnosis and treatment. In Canada, decisions regarding disease inclusion in NBS programs occur at the provincial level, which leads to variability in patient care. We aimed to determine whether important differences exist in NBS programs across provinces and territories. Given that spinal muscular atrophy (SMA) is the most recent disease added to NBS programs, we hypothesized that its inclusion would show interprovincial variability and be more likely in provinces already screening for a greater number of diseases. METHODS: We conducted a cross-sectional survey of all NBS labs in Canada to understand: 1) what conditions were included in their program; 2) what genetic-based testing was performed and; 3) if SMA was included. RESULTS: All NBS programs (N = 8) responded to this survey by June 2022. There was a 2.5-fold difference in the number of conditions screened (N = 14 vs N = 36) and a 9-fold difference in the number of conditions screened by gene-based testing. Only nine conditions were common to all provincial NBS programs. NBS for SMA was performed in four provinces at the time of our survey, with BC recently becoming the fifth province to add SMA to their NBS on October 1, 2022. Currently, 72% of Canadian newborns are screened for SMA at birth. CONCLUSION: Although healthcare in Canada is universal, its decentralization gives rise to regional differences in NBS programs which creates inequity in the treatment, care, and potential outcomes of affected children across provincial jurisdictions.

An analysis of error patterns in children's backward digit recall in noise.

The purpose of the study was to determine whether perceptual masking or cognitive processing accounts for a decline in working memory performance in the presence of competing speech. The types and patterns of errors made on the backward digit span in quiet and multitalker babble at -5 dB signal-to-noise ratio (SNR) were analyzed. The errors were classified into two categories: item (if digits that were not presented in a list were repeated) and order (if correct digits were repeated but in an incorrect order). Fifty five children with normal hearing were included. All the children were aged between 7 years and 10 years. Repeated measures of analysis of variance (RM-ANOVA) revealed the main effects for error type and digit span length. In terms of listening condition interaction, it was found that the order errors occurred more frequently than item errors in the degraded listening condition compared to quiet. In addition, children had more difficulty recalling the correct order of intermediate items, supporting strong primacy and recency effects. Decline in children's working memory performance was not primarily related to perceptual difficulties alone. The majority of errors was related to the maintenance of sequential order information, which suggests that reduced performance in competing speech may result from increased cognitive processing demands in noise.

The limitation of risk factors as a means of prognostication in auditory neuropathy spectrum disorder of perinatal onset.

OBJECTIVE: The management of hearing loss due to auditory neuropathy spectrum disorder (ANSD) in neonates and infants is challenging because speech and language development prognosis cannot be directly inferred from early audiometric hearing thresholds. Consequently, appropriate intervention with hearing aids or cochlear implantation (CI) can be delayed. Our objective was to determine whether any features of patient history could be used to identify CI candidates with ANSD at an earlier age. METHOD: A database was maintained over 11 years to monitor cases of perinatal onset ANSD. Risk factors associated with the perinatal time period considered pertinent to hearing outcomes were assessed, including prematurity, birth weight, APGAR score, ototoxic drugs, and hyperbilirubinemia. Children with cochlear nerve aplasia and genetic mutations were excluded. Hearing outcome was determined according to mode of auditory rehabilitation beyond 30 months of age: A) no hearing device; B) hearing aid; C) CI. RESULTS: Of twenty-eight children with ANSD, nine (32%) had behavioural thresholds and language development sufficient to require no assistive device, 9 (32%) were fitted with hearing aids and 10 (36%) had CIs. The average age at CI (3.45 ± 2.07 years) was significantly older than the age at CI of other children in our program with prelingual hearing loss (2.05 ± 1.14 years; p = 0.01 Mann-Witney U Test). None of the putative risk factors for hearing loss reliably predicted the need for subsequent CI. CONCLUSION: The small sample size in this study is sufficient to confirm that clinical history alone does not reliably predict which young children with perinatal-onset ANSD will require CI. Consequently, timing for CI remains delayed in these children, potentially affecting speech and language outcome. The pathogenesis of perinatal-onset ANSD remains undetermined and novel means of assessment are required for prognostication in affected infants.

The Effect of Noise on the Relationship Between Auditory Working Memory and Comprehension in School-Age Children.

PURPOSE: The objectives of the current study were to examine the effect of noise (-5 dB SNR) on auditory comprehension and to examine its relationship with working memory. It was hypothesized that noise has a negative impact on information processing, auditory working memory, and comprehension. METHOD: Children with normal hearing between the ages of 8 and 10 years were administered working memory and comprehension tasks in quiet and noise. The comprehension measure comprised 5 domains: main idea, details, reasoning, vocabulary, and understanding messages. RESULTS: Performance on auditory working memory and comprehension tasks were significantly poorer in noise than in quiet. The reasoning, details, understanding, and vocabulary subtests were particularly affected in noise (p < .05). The relationship between auditory working memory and comprehension was stronger in noise than in quiet, suggesting an increased contribution of working memory. CONCLUSIONS: These data suggest that school-age children's auditory working memory and comprehension are negatively affected by noise. Performance on comprehension tasks in noise is strongly related to demands placed on working memory, supporting the theory that degrading listening conditions draws resources away from the primary task.

Children's auditory working memory performance in degraded listening conditions.

PURPOSE: The objectives of this study were to determine (a) whether school-age children with typical hearing demonstrate poorer auditory working memory performance in multitalker babble at degraded signal-to-noise ratios than in quiet; and (b) whether the amount of cognitive demand of the task contributed to differences in performance in noise. It was hypothesized that stressing the working memory system with the presence of noise would impede working memory processes in real time and result in poorer working memory performance in degraded conditions. METHOD: Twenty children with typical hearing between 8 and 10 years old were tested using 4 auditory working memory tasks (Forward Digit Recall, Backward Digit Recall, Listening Recall Primary, and Listening Recall Secondary). Stimuli were from the standardized Working Memory Test Battery for Children. Each task was administered in quiet and in 4-talker babble noise at 0 dB and -5 dB signal-to-noise ratios. RESULTS: Children's auditory working memory performance was systematically decreased in the presence of multitalker babble noise compared with quiet. Differences between low-complexity and high-complexity tasks were observed, with children performing more poorly on tasks with greater storage and processing demands. There was no interaction between noise and complexity of task. All tasks were negatively impacted similarly by the addition of noise. CONCLUSIONS: Auditory working memory performance was negatively impacted by the presence of multitalker babble noise. Regardless of complexity of task, noise had a similar effect on performance. These findings suggest that the addition of noise inhibits auditory working memory processes in real time for school-age children.