Browsing by Subject "Speech Disorders"

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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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    Multidisciplinary assessment and diagnosis of conversion disorder in a patient with foreign accent syndrome.
    (Behavioural neurology, 2011-01) Jones, Harrison N; Story, Tyler J; Collins, Timothy A; Dejoy, Daniel; Edwards, Christopher L
    Multiple reports have described patients with disordered articulation and prosody, often following acute aphasia, dysarthria, or apraxia of speech, which results in the perception by listeners of a foreign-like accent. These features led to the term foreign accent syndrome (FAS), a speech disorder with perceptual features that suggest an indistinct, non-native speaking accent. Also correctly known as psuedoforeign accent, the speech does not typically match a specific foreign accent, but is rather a constellation of speech features that result in the perception of a foreign accent by listeners. The primary etiologies of FAS are cerebrovascular accidents or traumatic brain injuries which affect cortical and subcortical regions critical to expressive speech and language production. Far fewer cases of FAS associated with psychiatric conditions have been reported. We will present the clinical history, neurological examination, neuropsychological assessment, cognitive-behavioral and biofeedback assessments, and motor speech examination of a patient with FAS without a known vascular, traumatic, or infectious precipitant. Repeated multidisciplinary examinations of this patient provided convergent evidence in support of FAS secondary to conversion disorder. We discuss these findings and their implications for evaluation and treatment of rare neurological and psychiatric conditions.
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    The emerging phenotype of long-term survivors with infantile Pompe disease.
    (Genetics in medicine : official journal of the American College of Medical Genetics, 2012-09) Prater, Sean N; Banugaria, Suhrad G; DeArmey, Stephanie M; Botha, Eleanor G; Stege, Erin M; Case, Laura E; Jones, Harrison N; Phornphutkul, Chanika; Wang, Raymond Y; Young, Sarah P; Kishnani, Priya S

    Purpose

    Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors.

    Methods

    Inclusion criteria included ventilator-free status and age ≤6 months at treatment initiation, and survival to age ≥5 years. Clinical outcome measures included invasive ventilator-free survival and parameters for cardiac, pulmonary, musculoskeletal, gross motor, and ambulatory status; growth; speech, hearing, and swallowing; and gastrointestinal and nutritional status.

    Results

    Eleven of 17 patients met study criteria. All were cross-reactive immunologic material-positive, alive, and invasive ventilator-free at most recent assessment, with a median age of 8.0 years (range: 5.4-12.0 years). All had marked improvements in cardiac parameters. Commonly present were gross motor weakness, motor speech deficits, sensorineural and/or conductive hearing loss, osteopenia, gastroesophageal reflux, and dysphagia with aspiration risk. Seven of 11 patients were independently ambulatory and four required the use of assistive ambulatory devices. All long-term survivors had low or undetectable anti-alglucosidase alfa antibody titers.

    Conclusion

    Long-term survivors exhibited sustained improvements in cardiac parameters and gross motor function. Residual muscle weakness, hearing loss, risk for arrhythmias, hypernasal speech, dysphagia with risk for aspiration, and osteopenia were commonly observed findings.