Speech production and sensory impairment in mild Parkinson's disease.

Little is known about speech-related sensory systems and the link to speech in Parkinson's disease (PD). This study investigates auditory and somatosensory acuity and their association to speech in PD, using /s/ and /ʃ/ as speech targets. Ten adults with mild PD and ten age- and gender-matched healthy participants performed three tasks. In the auditory task, participants discriminated three aperiodic sounds acoustically modified from /s/ and /ʃ/ and differing in spectral shapes. In the tactile task, they judged the orientation of a dome-shaped grating probe gently touching their tongue tip. Measures of auditory and tactile acuity were determined based on participants' responses. For the production task, participants read a passage and eight sentences with /s/- and /ʃ/-initial words; acoustic contrast between the two sibilants was measured using difference between the average first spectral moments of /s/ and /ʃ/. The PD participants showed reduced auditory acuity of spectral sibilant contrast and reduced tactile acuity of the tongue tip. For speech production, the PD group showed smaller sibilant contrast in the sentence readings, but the difference was not statistically significant. Correlation analyses showed significant correlations between tactile acuity and sibilant contrast for the PD group, but not for auditory task.

Mutations in TBL1X Are Associated With Central Hypothyroidism.

CONTEXT: Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. We identified a missense mutation in the transducin ß-like protein 1, X-linked (TBL1X) gene in three relatives diagnosed with isolated CeH. TBL1X is part of the thyroid hormone receptor-corepressor complex. OBJECTIVE: The objectives of the study were the identification of TBL1X mutations in patients with unexplained isolated CeH, Sanger sequencing of relatives of affected individuals, and clinical and biochemical characterization; in vitro investigation of functional consequences of mutations; and mRNA expression in, and immunostaining of, human hypothalami and pituitary glands. DESIGN: This was an observational study. SETTING: The study was conducted at university medical centers. PATIENTS: Nineteen individuals with and seven without a mutation participated in the study. MAIN OUTCOME MEASURES: Outcome measures included sequencing results, clinical and biochemical characteristics of mutation carriers, and results of in vitro functional and expression studies. RESULTS: Sanger sequencing yielded five additional mutations. All patients (n = 8; six males) were previously diagnosed with CeH (free T4 [FT4] concentration below the reference interval, normal thyrotropin). Eleven relatives (two males) also carried mutations. One female had CeH, whereas 10 others had low-normal FT4 concentrations. As a group, adult mutation carriers had 20%-25% lower FT4 concentrations than controls. Twelve of 19 evaluated carriers had hearing loss. Mutations are located in the highly conserved WD40-repeat domain of the protein, influencing its expression and thermal stability. TBL1X mRNA and protein are expressed in the human hypothalamus and pituitary. CONCLUSIONS: TBL1X mutations are associated with CeH and hearing loss. FT4 concentrations in mutation carriers vary from low-normal to values compatible with CeH.

The effects of fundamental frequency contour manipulations on speech intelligibility in background noise.

Previous studies have documented that speech with flattened or inverted fundamental frequency (F0) contours is less intelligible than speech with natural variations in F0. The purpose of this present study was to further investigate how F0 manipulations affect speech intelligibility in background noise. Speech recognition in noise was measured for sentences having the following F0 contours: unmodified, flattened at the median, natural but exaggerated, inverted, and sinusoidally frequency modulated at rates of 2.5 and 5.0 Hz, rates shown to make vowels more perceptually salient in background noise. Five talkers produced 180 stimulus sentences, with 30 unique sentences per F0 contour condition. Flattening or exaggerating the F0 contour reduced key word recognition performance by 13% relative to the naturally produced speech. Inverting or sinusoidally frequency modulating the F0 contour reduced performance by 23% relative to typically produced speech. These results support the notion that linguistically incorrect or misleading cues have a greater deleterious effect on speech understanding than linguistically neutral cues.