Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate
Jessica O Boyce, Supriya Raj, Katherine Sanchez, Mary L Marazita, Angela T Morgan, Icky Kilpatrick
CLEFT PALATE-CRANIOFACIAL JOURNAL | ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS | Published : 2019
OBJECTIVE: Subclinical phenotypes of nonsyndromic cleft lip with or without cleft palate (CL ± P) may be identified from clinically "unaffected" relatives and could be associated with specific cleft-related gene mutations. It has been hypothesized that velopharyngeal insufficiency (VPI) may be a subclinical phenotype of interest in this population, but this has not been explored quantitatively with appropriate control cohorts. The aim of this case-control study was to compare VPI in at-risk clinically unaffected relatives of individuals with nonsyndromic CL ± P with a low-risk matched normative Australian cohort. PARTICIPANTS: Clinically unaffected (ie, with no overt cleft) first-degree rela..View full abstract
Awarded by National Health and Medical Research Council (NHMRC) Practitioner Fellowship
Awarded by Centre of Research Excellence (CRE) in Speech and Language (SLANG)
Awarded by NHMRC
The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by a National Health and Medical Research Council (NHMRC) Practitioner Fellowship #1105008 and Centre of Research Excellence (CRE) in Speech and Language (SLANG) #1116976 awarded to A.T.M., a NHMRC funded project, OzCleft (#607396) awarded to N.K., a Speech Pathology Australia Nadia Verrall Memorial Research Grant and Murdoch Children's Research Institute Postgraduate Health Research Scholarship awarded to J.O.B. This work was also supported by the Victorian Government's Operational Infrastructure Support Programme.