SCIENCE: Speech phenotyping in unaffected family members of individuals with nonsyndromic cleft lip with or without palate


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.


Clinically unaffected (ie, with no overt cleft) first-degree relatives of a proband with nonsyndromic CL ± P (n = 189) and noncleft controls (n = 207).


Perceptual measures of VPI encompassing resonance, nasal emission, and articulation were evaluated using the Great Ormond Street Speech Assessment. Quantitative measures of VPI were obtained from the Nasometer II using standardized adult and pediatric speech stimuli.


Both perceptual and instrumental measures showed no significant difference ( P > .01) between the VPI in unaffected relatives and the noncleft comparison group. Mean nasalance scores for both groups were calculated and reported according to speech stimuli, age, and sex.


Results suggest that VPI, measured through speech, is not a significant subclinical phenotype of nonsyndromic CL ± P. Therefore, further familial genetic investigations exploring VPI may not yield meaningful results. Exploration across multiple subclinical phenotypes in larger cohorts may enable researchers to better understand the multifaceted nature of this complex and heterogeneous anomaly.


Click here for more details.

Related Post

  • Posted on 30 May, 2024
    Join Redenlab at the upcoming Huntington’s Disease Society of America (HDSA) National Convention, starting on the 30th of May 2024...
    • Posted on 31 March, 2024
      Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. The speech, language and cognitive profile...
      • Posted on 25 January, 2024
        Exposing healthy adults to extended periods of wakefulness is known to induce changes in psychomotor functioning. The effect of fatigue...