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Voice Characteristics and Parent-Reported Voice Handicap in Children With Mucopolysaccharidosis: A Pilot Case-Control
Shamkhal Jafarov1, Tuğçe Karahan Tığrak2, Ayşe Nur Demirci3
1Acıbadem Altunizade Hospital, İstanbul, Türkiye.
Summary
Children with mucopolysaccharidoses (MPS) have poorer voice quality and longer voice handicap. Routine voice assessments are crucial for managing MPS patients.
Area of Science:
- Otolaryngology
- Genetics
- Speech-Language Pathology
Background:
- Mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders with multisystem involvement.
- Early and common ear, nose, and throat manifestations occur in MPS.
- Pediatric voice characteristics in MPS are under-described.
Purpose of the Study:
- Compare acoustic and cepstral voice measures, maximum phonation time (MPT), and parent-reported voice handicap (Pediatric Voice Handicap Index-pVHI) between children with MPS and controls.
- Describe upper-airway and laryngeal mucosal alterations using videoendoscopy.
- Explore differences between MPS type IV and MPS type VI.
Main Methods:
- Seventeen children with MPS (type IV, n=10; type VI, n=7) and 17 age/sex-matched controls were included.
- Acoustic analysis (MDVP, cepstral-spectral analysis [CPP]), MPT, and pVHI were assessed.
- Flexible upper-airway and laryngeal videoendoscopy was performed and analyzed using a disease-specific system.
Main Results:
- Children with MPS had reduced MPT and increased noise-to-harmonics ratio, voice turbulence index, and CPP compared to controls.
- No significant differences were found for fundamental frequency, jitter, shimmer, or CPP variability.
- Children with MPS reported substantially higher voice-related handicap; no meaningful differences were observed between MPS types IV and VI.
Conclusions:
- This study highlights the significant voice handicap and acoustic alterations in children with MPS.
- Combining parent-reported handicap and acoustic analysis is vital.
- Routine voice assessments should be integrated into the multidisciplinary management of MPS.
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