Speech communication strategies in older children: acoustic-phonetic and linguistic adaptations to a hearing-impaired peer

This thesis examines the communication strategies used by both hearing (NH) and hearing-impaired (HI) children when interacting with a peer with hearing loss, focusing on the acoustic-phonetic and linguistic properties of their speech. To elicit frequent repetitions of segmental contrasts in HI children’s spontaneous speech in interaction, a new task was developed using minimal pair keywords in a communicative game context. In addition, another referential communication task, the ‘spot the difference’ Diapix task (Van Engen et al., 2010), was used. Eighteen NH and eighteen HI children between 9 and 15 years of age performed the two tasks in pairs, once with a friend with normal hearing (NH-directed speech) and once with a friend with a hearing-impairment (HI-directed speech). Task difficulty increased in interactions involving a HI interlocutor, implying a need for speaker- listener adaptations. Participants’ global acoustic-phonetic (articulation rate, F0 median and range, speech intensity and pausing), segmental (/p/-/b/, /s/- /ʃ/, and /i/-/ɪ/) and linguistic (phrase length, lexical frequency, lexical diversity and speech overlap) adaptations to a HI interlocutor were explored. Although HI speakers were found to differ from NH speakers in many aspects of their speech and language, the two groups used similar, mostly global and linguistic, strategies to adapt to the needs of their HI friend – and the HI children’s ability to adapt did not seem to be related to their own speech level. Only a subset of speakers was found to increase the discriminability of phonetic contrasts in speech, perhaps partly due to speakers using segmental and linguistic strategies as alternative methods in adaptation. Both NH and HI speakers appeared to adjust the extent of adaptations made to the specific needs of their HI interlocutor, therefore implying surprising sensitivity to listener needs. Implications to models of speech communication are discussed

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

dentification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous and quantitative DKD phenotypes: the principal dichotomous analysis involved 5,717 T2D subjects, 3,345 with DKD. Promising association signals were evaluated in up to 26,827 subjects with T2D (12,710 with DKD). A combined T1D+T2D GWAS was performed using complementary data available for subjects with T1D, which, with replication samples, involved up to 40,340 subjects with diabetes (18,582 with DKD). Analysis of specific DKD phenotypes identified a novel signal near GABRR1 (rs9942471, P = 4.5 x 10(-8)) associated with microalbuminuria in European T2D case subjects. However, no replication of this signal was observed in Asian subjects with T2D or in the equivalent T1D analysis. There was only limited support, in this substantially enlarged analysis, for association at previously reported DKD signals, except for those at UMOD and PRKAG2, both associated with estimated glomerular filtration rate. We conclude that, despite challenges in addressing phenotypic heterogeneity, access to increased sample sizes will continue to provide more robust inference regarding risk variant discovery for DKD.Peer reviewe

Characterization of the enhancer and promoter landscape of inflammatory bowel disease from human colon biopsies

Many SNPs associated with inflammatory bowel disease are located in non-coding genomic regions. Here, the authors perform CAGE-sequencing on descending colon biopsies of Crohn’s disease and ulcerative colitis patients to map transcription start sites and enhancer activity for analysis of regulatory regions