Vowel Intelligibility in Children With and Without Dysarthria: An Exploratory Study

Children with dysarthria due to cerebral palsy (CP) present with decreased vowel space area and reduced word intelligibility. Although a robust relationship exists between vowel space and word intelligibility, little is known about the intelligibility of vowels in this population. This exploratory study investigated the intelligibility of American-English vowels produced by children with dysarthria and typically-developing children (TD). Three CP and five TD repeated words with contrastive vowels /i-ɪ/,/æ-ɛ/,/ɑ-ʌ/,/o-u/ produced by a native American-English adult. Adult listeners transcribed the utterances orthographically and rated their ease of understanding. Overall, CP presented with less-intelligible vowels than TD. For CP, a trend was found with the lowest intelligibility for /ɑ/ (CP=7%,TD=66%), /ɪ/ (CP=30%,TD=82%), and /ʌ/ (CP=38%,TD=99%), and more heterogeneous vowel confusions; however, intelligibility differences between vowels did not reach statistical significance. Clinical implications include that, unless further studies show vowel-specific effects, treatment targeting the entire vowel system may be warranted for increasing intelligibility

Study of the Association between ITPKC Genetic Polymorphisms and Calcium Nephrolithiasis

Nephrolithiasis is a multifactorial disease caused by environmental, hormonal, and genetic factors. Genetic polymorphisms of ORAI1, which codes for the main subunit of the store-operated calcium (SOC) channel, were reported to be associated with the risk and recurrence of calcium nephrolithiasis. Inositol 1,4,5-trisphosphate (IP3) 3-kinase C (ITPKC) is a negative regulator of the SOC channel-mediated signaling pathway. We investigated the association between calcium containing nephrolithiasis and genetic variants of ITPKC gene in Taiwanese patients. 365 patients were recruited in this study. Eight tagging single nucleotide polymorphisms of ITPKC were selected for genotyping. ITPKC genotypes were determined by TaqMan assay. ITPKC plasmids were transfected into cells to evaluate the intracellular calcium mobilization. Our results indicated that rs2607420 CC genotype in the intron region of the ITPKC gene is associated with a lower eGFR by both Modification of Diet in Renal Diseases (P=0.0405) and Cockcroft-Gault (P=0.0215) equations in patients with calcium nephrolithiasis. Our results identify a novel polymorphism for renal function and highlight the importance of ITPKC as a key molecule to regulate calcium signaling