Browsing by Author "Mahler, Leslie"

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    Auditory-Perceptual Speech Features in Children With Down Syndrome.
    (American journal on intellectual and developmental disabilities, 2019-07) Jones, Harrison N; Crisp, Kelly D; Kuchibhatla, Maragatha; Mahler, Leslie; Risoli, Thomas; Jones, Carlee W; Kishnani, Priya
    Speech disorders occur commonly in individuals with Down syndrome (DS), although data regarding the auditory-perceptual speech features are limited. This descriptive study assessed 47 perceptual speech features during connected speech samples in 26 children with DS. The most severely affected speech features were: naturalness, imprecise consonants, hyponasality, speech rate, inappropriate silences, irregular vowels, prolonged intervals, overall loudness level, pitch level, aberrant oropharyngeal resonance, hoarse voice, reduced stress, and prolonged phonemes. These findings suggest that speech disorders in DS are due to distributed impairments involving voice, speech sound production, fluency, resonance, and prosody. These data contribute to the development of a profile of impairments in speakers with DS to guide future research and inform clinical assessment and treatment.
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    Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.
    (Journal of pediatric rehabilitation medicine, 2014-01) Jones, Harrison N; Crisp, Kelly D; Moss, Tronda; Strollo, Katherine; Robey, Randy; Sank, Jeffrey; Canfield, Michelle; Case, Laura E; Mahler, Leslie; Kravitz, Richard M; Kishnani, Priya S

    Purpose

    Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe disease; both demonstrated marked increases in inspiratory and expiratory muscle strength in response to RMT. However, the use of RMT in pediatric survivors of infantile Pompe disease has not been previously reported.

    Method

    We report the effects of an intensive RMT program on maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) using A-B-A (baseline-treatment-posttest) single subject experimental design in two pediatric survivors of infantile Pompe disease. Both subjects had persistent respiratory muscle weakness despite long-term treatment with alglucosidase alfa.

    Results

    Subject 1 demonstrated negligible to modest increases in MIP/MEP (6% increase in MIP, d=0.25; 19% increase in MEP, d=0.87), while Subject 2 demonstrated very large increases in MIP/MEP (45% increase in MIP, d=2.38; 81% increase in MEP, d=4.31). Following three-month RMT withdrawal, both subjects maintained these strength increases and demonstrated maximal MIP and MEP values at follow-up.

    Conclusion

    Intensive RMT may be a beneficial treatment for respiratory muscle weakness in pediatric survivors of infantile Pompe disease.