Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based Study.

This study aims to identify potential variants in the TP63-IRF6 pathway and GREM1 for the etiology of non-syndromic orofacial cleft (NSOFC) among the Vietnamese population. By collecting 527 case-parent trios and 527 control samples, we conducted a stratified analysis based on different NSOFC phenotypes, using allelic, dominant, recessive and over-dominant models for case-control analyses, and family-based association tests for case-parent trios. Haplotype and linkage disequilibrium analyses were also conducted. IRF6 rs2235375 showed a significant association with an increased risk for non-syndromic cleft lip and palate (NSCLP) and cleft lip with or without cleft palate (NSCL/P) in the G allele, with pallele values of 0.0018 and 0.0003, respectively. Due to the recessive model (p = 0.0011) for the NSCL/P group, the reduced frequency of the GG genotype of rs2235375 was associated with a protective effect against NSCL/P. Additionally, offspring who inherited the G allele at rs2235375 had a 1.34-fold increased risk of NSCL/P compared to the C allele holders. IRF6 rs846810 and a G-G haplotype at rs2235375-rs846810 of IRF6 impacted NSCL/P, with p-values of 0.0015 and 0.0003, respectively. In conclusion, our study provided additional evidence for the association of IRF6 rs2235375 with NSCLP and NSCL/P. We also identified IRF6 rs846810 as a novel marker associated with NSCL/P, and haplotypes G-G and C-A at rs2235375-rs846810 of IRF6 associated with NSOFC.

Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies.

Since telepractice regulation does not yet exist in Japan, we assessed telepractice efficacy and the level of satisfaction with telepractice versus that with face-to-face practice (FTFP) in speech therapy to establish effective telepractice in Japan. Changes in the number of therapy sessions and therapy levels were compared between telepractice and FTFP sessions conducted during the study period. Additionally, the patients' parents completed a questionnaire survey regarding telepractice. The mean number of sessions was not significantly different between the two types of therapy; the therapy levels, according to stepwise speech therapy, either increased or remained unchanged. The survey showed satisfaction with telepractice among all parents. Telepractice for cleft palate speech was delivered successfully with complete parental satisfaction.

Normative Nasalance Values in Vietnamese With Southern Dialect: Vowel and Tone Effects.

Purpose The purpose of the current study was to examine normative nasalance values in Vietnamese adult speakers with Southern dialect and to investigate the effects of vowels and tones on nasalance. Previous studies examining nasalance have been mainly conducted with Indo-European languages. Limited information on nasalance is available in tone languages other than Chinese. Furthermore, tone and vowel effects on nasalance scores in tone languages have not been fully examined. Method Nasalance scores of various speech stimuli including passages, syllables, and prolonged vowels were obtained from Vietnamese-speaking adults with Southern dialect (M age = 23 years) using a nasometer (KayPENTAX 6450). Results The average nasalance scores of Southern Vietnamese adult speakers were 24.16%, 38.17%, and 70.03% for the oral, oral-nasal, and nasal passages, respectively. Southern Vietnamese speakers produced the highest nasalance scores on the vowel /a/, followed by /i/ and /u/. Nasalance scores of stimuli produced with the falling and restricted tone were significantly lower than those produced with the other tones. Conclusions The normative nasalance values of the current study will contribute as a reference index for the Vietnamese language. The effects of vowels and tones can also provide insight into the development of nasalance testing stimuli and for characterizing nasalance values across languages.

Diagnostic/genetic sreening - approach for genetic diagnoses and prevention of cleft lip and/or palate.

The treatment, research and volunteer work for cleft lip and/or palate (CL/P) has been led for over 30 years by our team. Within this period, more than 4,000 cases of CL/P were treated and at the same time, and approximately 400 papers were published as the first or partner researcher in Nature Genetics, New England Journal of Medicine and others. In addition, with $20 million that was donated from companies and laypeople, and the grant from the Japanese government, CL/P centres in many countries and in Japan, the oral and craniofacial congenital anomaly gene bank in our CL/P centre was established by our leadership. In the bank there are genes from approximately more than 8,000 cases. The genes were mapped with Professor Jeffery Murray of Iowa University in the United States, the findings about genetic syndromes such as Van der Woude Syndrome and basal cell nevus syndrome were applied in clinical settings. The genetic counselling section that specialises in the oral and maxillofacial field was established by our effort for the first time in Japan. In this review, our clinical experience and approach for genetic diagnoses and prevention of cleft lip and/or palate will be discussed.

Perception of Cleft Palate Speech by Japanese Listeners-an Assessment of Palatalized Articulations.

To examine how people react to palatalized articulation, we used one cleft palate speech (CPS) sample of palatalized articulation that was purchased in Japan and one recorded sample of speech from a non-cleft palate individual. Study design The two speech samples were rated by 137 native listeners. Each participant rated the set of speech samples for 10 features using a 10-point scale. Alpha factor analysis was performed. Results Two factors were extracted from the entire set of features with alpha factor analysis. Conclusions Although native listeners could not distinguish between CPS and non-CPS using the psychometrical measurements applied in this study, this method of analyzing speech represents a useful technique for planning treatments in cleft disorder patients.

Epidemiological Analysis of Cleft Lip and/or Palate by Cleft Pattern.

OBJECTIVES: To analyze gender differences in cleft pattern by the clinical statistical study of Japanese patients with cleft lip and/or cleft palate. STUDY DESIGN: Cleft pattern modeling was used to analyze 782 patients with cleft lip and/or cleft palate (417 males and 365 females) who had been examined at the Cleft Lip and Palate Center, Aichi-Gakuin University Hospital, and whose details could be confirmed. Relationships between gender and cleft type were analyzed with chi-squared test. RESULTS: A comparison of gender differences by cleft type revealed that a greater percentage of males had milder cleft lip, cleft lip and palate, or cleft palate, whereas the percentage of females tended to be greater as cleft severity increased. CONCLUSIONS: Modeling of cleft patterns enables more detailed classification of cleft lip and palate, and can lead to a greater understanding of pathology.