Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease

Jones, Hilary; Fernandes, Samuela A.; Hannah, William B.; Kansagra, Sujay; Raynor, Eileen M.; Kishnani, Priya S.

doi:10.1016/j.ymgmr.2020.100574

Cited by 2 publications

(2 citation statements)

References 12 publications

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“…Additional acoustic parameters such as the normalized amplitude quotient (NAQ), peak slope (PS), cepstral peak prominence (CPP), and harmonic richness factor (HRF) have shown value in prior research investigating the effects of Pompe disease on voice function and should be included in future research to better differentiate and describe dysphonic voices [9,56]. Hypernasality is widely reported to be the most commonly occurring deviant speech feature in children with Pompe disease [5,7,8,73] and the relationship between disorders of resonance and reduced speech intelligibility in other populations is well documented [30,74]. Quantifying the relative impact of deficits in individual speech subsystems in children with Pompe disease who exhibit dysarthria and dysphonia might allow clinicians to focus their interventions to maximize benefit from therapy and achieve optimal clinical outcomes.…”

Section: Discussionmentioning

confidence: 99%

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

Crisp

Neel

Amarasekara

et al. 2021

JCM

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Bulbar and respiratory weakness occur commonly in children with Pompe disease and frequently lead to dysarthria. However, changes in vocal quality associated with this motor speech disorder are poorly described. The goal of this study was to characterize the vocal function of children with Pompe disease using auditory-perceptual and physiologic/acoustic methods. High-quality voice recordings were collected from 21 children with Pompe disease. The Grade, Roughness, Breathiness, Asthenia, and Strain (GRBAS) scale was used to assess voice quality and ratings were compared to physiologic/acoustic measurements collected during sustained phonation tasks, reading of a standard passage, and repetition of a short phrase at maximal volume. Based on ratings of grade, dysphonia was present in 90% of participants and was most commonly rated as mild or moderate in severity. Duration of sustained phonation tasks was reduced and shimmer was increased in comparison to published reference values for children without dysphonia. Specific measures of loudness were found to have statistically significant relationships with perceptual ratings of grade, breathiness, asthenia, and strain. Our data suggest that dysphonia is common in children with Pompe disease and primarily reflects impairments in respiratory and laryngeal function; however, the primary cause of dysphonia remains unclear. Future studies should seek to quantify the relative contribution of deficits in individual speech subsystems on voice quality and motor speech performance more broadly.

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Section: Discussionmentioning

confidence: 99%

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

Crisp

Neel

Amarasekara

et al. 2021

JCM

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“…A palatal lift prosthesis may be necessary for these patients, but no study has demonstrated the effectiveness of such prostheses in improving the speech function of children with IOPD. In addition, surgical intervention such as adenotonsillectomy may worsen hypernasality and should be avoided 23 . CPAP training is safe for children with IOPD and should be the first intervention considered for reducing their hypernasality and improving their speech intelligibility if the availability of those specialized equipment for CPAP training is not an issue.…”

Section: Discussionmentioning

confidence: 99%

A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease

Zeng

Torng

et al. 2021

Sci Rep

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Children with infantile-onset Pompe disease (IOPD) demonstrate hypernasality. This study aimed to evaluate whether continuous positive airway pressure (CPAP) training may reduce hypernasality in children with IOPD. Five children with IOPD were enrolled in a single-subject experimental design of type A-B-A′. The intervention comprised an 8-week, 6-day-per-week regimen of CPAP training at home. Participants continued traditional speech therapy once per week throughout the 24-week study duration. The outcome measurements included the degree of hypernasality (DH), the percentage of consonants correct (PCC), and the speech intelligibility score (SIS). C-statistic analysis with an α of 0.05 was used along with visual analysis to assess speech changes. Three patients completed the study. During the CPAP training phase, the DH, PCC, and SIS were significantly improved compared with the baseline (p < 0.05). At the follow-up phase, both DH and SIS were improved compared with the baseline (p < 0.05), but the PCC had returned to the baseline level. CPAP training demonstrated effectiveness in reducing nasal sounds in IOPD patients. Further studies training younger children with normal hearing may help elucidate the persistence of the effects in children with IOPD.

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Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease

Cited by 2 publications

References 12 publications

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods

A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease

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