Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease

التفاصيل البيبلوغرافية
العنوان: Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
المؤلفون: Jeng-Yi Shieh, Ni-Chung Lee, Yin-Ting Zeng, Pao-Chuan Torng, Yin-Hsiu Chien, Wuh-Liang Hwu, Lu Lu
المصدر: European Journal of Paediatric Neurology. 21:485-493
بيانات النشر: Elsevier BV, 2017.
سنة النشر: 2017
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Disease, Speech Therapy, 030105 genetics & heredity, Audiology, Speech Disorders, Speech therapy, 03 medical and health sciences, 0302 clinical medicine, Early Medical Intervention, otorhinolaryngologic diseases, medicine, Humans, Enzyme Replacement Therapy, Child, Newborn screening, Glycogen Storage Disease Type II, alpha-Glucosidases, General Medicine, Enzyme replacement therapy, Pediatrics, Perinatology and Child Health, Female, Speech disorder, Neurology (clinical), Infantile onset, medicine.symptom, Articulation (phonetics), Psychology, Range of motion, 030217 neurology & neurosurgery, Follow-Up Studies
الوصف: 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.
تدمد: 1090-3798
DOI: 10.1016/j.ejpn.2016.12.004
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7766ee40d62b6f933a665916510de893
https://doi.org/10.1016/j.ejpn.2016.12.004
Rights: CLOSED
رقم الانضمام: edsair.doi.dedup.....7766ee40d62b6f933a665916510de893
قاعدة البيانات: OpenAIRE
الوصف
تدمد:10903798
DOI:10.1016/j.ejpn.2016.12.004