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Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
Yin-Ting Zeng1, Wuh-Liang Hwu2, Pao-Chuan Torng3
1Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Physical Medicine and Rehabilitation, National Taiwan University Hospital, Taipei, Taiwan.
Insights
Early treatment for infantile-onset Pompe disease (IOPD) improves survival but speech disorders persist. Aggressive speech therapy and high-dose enzyme replacement therapy (rhGAA) can significantly improve articulation and speech intelligibility in these patients.
Area of Science:
- Neurology
- Genetics
- Speech Pathology
Background:
- Infantile-onset Pompe disease (IOPD) requires early intervention with recombinant human acid alpha-glucosidase (rhGAA) enzyme replacement therapy.
- Despite successful treatment, speech disorders remain a common challenge for patients with IOPD.
Observation:
- This study followed seven early-treated IOPD patients for six years, assessing speech disorders like hypernasal resonance, articulation, and intelligibility.
- Speech-language pathologists evaluated auditory perception of speech samples over the study period.
Findings:
- All patients exhibited hypernasality, articulation deficits, and impaired speech intelligibility by age three.
- Aggressive speech therapy combined with high-dose rhGAA significantly improved articulation in 86% of patients, enhancing speech intelligibility.
- Hypernasality severity decreased notably in only 29% of patients.
Implications:
- Speech disorders are prevalent in early-treated IOPD patients, necessitating targeted interventions.
- Intensified speech therapy and higher rhGAA doses show promise in improving speech outcomes for IOPD patients.
Background:
Patients with infantile-onset Pompe disease (IOPD) can be treated by recombinant human acid alpha glucosidase (rhGAA) replacement beginning at birth with excellent survival rates, but they still commonly present with speech disorders. This study investigated the progress of speech disorders in these early-treated patients and ascertained the relationship with treatments.
Methods:
Speech disorders, including hypernasal resonance, articulation disorders, and speech intelligibility, were scored by speech-language pathologists using auditory perception in seven early-treated patients over a period of 6 years. Statistical analysis of the first and last evaluations of the patients was performed with the Wilcoxon signed-rank test.
Results:
A total of 29 speech samples were analyzed. All the patients suffered from hypernasality, articulation disorder, and impairment in speech intelligibility at the age of 3 years. The conditions were stable, and 2 patients developed normal or near normal speech during follow-up. Speech therapy and a high dose of rhGAA appeared to improve articulation in 6 of the 7 patients (86%, p = 0.028) by decreasing the omission of consonants, which consequently increased speech intelligibility (p = 0.041). Severity of hypernasality greatly reduced only in 2 patients (29%, p = 0.131).
Conclusion:
Speech disorders were common even in early and successfully treated patients with IOPD; however, aggressive speech therapy and high-dose rhGAA could improve their speech disorders.
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