scholarly journals The Impact of Maxillary Osteotomy on Fricatives in Cleft Lip and Palate: A Perceptual Speech and Acoustic Study

2021 ◽  
Author(s):  
Joy M.K. Tsang ◽  
Wilson S. Yu ◽  
Jyrki Tuomainen ◽  
Debbie Sell ◽  
Kathy Y.S. Lee ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Maxillary Osteotomy ◽  
Acoustic Study ◽  
The Impact

Are Vowels Normalized After Maxillary Osteotomy? An Acoustic Study in Cleft Lip and Palate

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Choco H.Y. Ho ◽  
Wilson S. Yu ◽  
Jryki Tuomainen ◽  
Debbie Sell ◽  
Kathy Y.-S. Lee ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Maxillary Osteotomy ◽  
Acoustic Study

scholarly journals MOLECULAR GENETIC STUDY OF THE IMPACT OF SNP C677T OF THE GENE MTHFR IN THE DEVELOPMENT OF CONGENITAL ISOLATED CLEFT LIP AND PALATE

2018 ◽  
Vol 25 (5) ◽  
pp. 104-110
Author(s):  
V. S. Uchaeva ◽  
Yu. A. Vasiliev ◽  
A. S. Gracheva ◽  
O. V. Gulenko ◽  
I. G. Udina
Keyword(s):  
Genetic Study ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Control Group ◽  
Population Genetic Study ◽  
Molecular Genetic Study ◽  
Increased Risk ◽  
Significant Difference ◽  
Congenital Cleft ◽  
The Impact

Aim. This research was designed to conduct an associative population genetic study for the consideration of the impact of SNP C677T of the gene MTHFR in the congenital maxillofacial developmental anomalies (CMDA): congenital cleft lip (CCL), congenital cleft palate (CCP), congenital cleft lip and palate (CCLP) in the Krasnodar territory. The aim of the study is to establish the associations between SNP C677T of the gene MTHFR and the development of congenital cleft lip and/ or palate.Materials and methods. In this research, the peculiarities of distribution of SNP C667T of the gene MTHFR in children with congenital cleft lip and/or palate (n=223) and their mothers (n=78) in comparison with the control group (n=124) were studied in the Krasnodar territory. The genetic demographic questionnaires were gathered for children with CMDA, the information about diagnosis was obtained from the medical records. The biological samples, including blood or scrapings of oral mucosa, were collected from children with the pathology and their mothers. The DNA was extracted from the samples by the standard method. The study of the peculiarities of distribution of alleles of SNP C677T of the gene MTHFR was performed by PCR-PFLP with endonuclease Hinf I or by tetra-primer ARMS-PCR method in children with CCL, CCP, CCLP, their mothers and the control group. Statistical processing of the obtained data was performed by the algorithms of the “Statistica” program.Results. While comparing the profiles of frequencies of SNP C677T in children with CCL, CCP and CCLP with the control group, there were identified no significant differences in the frequency of this SNP and no peculiarities of genotypes distribution. There was identified a significant difference in the peculiarities of genotypes distribution with the control group (G=19,5232, d.f.=1, p<0,001) as well as united genotypes (С/C и С/T) in accordance to T/T (G=10,4657, d.f.=1; p<0,001) and united genotypes (C/T и T/T) in accordance to C/C (G=15,1896, d.f.=1, p<0,001) for the mothers of children with CCL, CCP and CCLP.Conclusion. As a result of the study, we established the association of SNP C677T of the MTHFR gene with the development of congenital cleft lip and/or palate: mothers’ T/T genotype is associated with the increased risk of giving birth to a child with CCL, CCP and CCLP (in comparison with mothers with C/C+C/T genotype): odds ratio [OR]=16,63, 95% CI: 3,86-71,71; p=0,0003 and also for mothers with genotypes (C/T+T/T) in comparison with mothers with genotypes C/C: OR=3,22, CI:1,71-6,08; p=0,0002. The amount of risk is not significant in children with CMDA for T/T genotype. So it is possible to make a conclusion about the impact of C677T of the gene MTHFR in the development of CCL, CCP and CCLP only in mother’s genotype. 

Sociodemographic Predictors of Missed Appointments Among Patients With Cleft Lip and Palate

2018 ◽  
Vol 55 (10) ◽  
pp. 1440-1446 ◽  
Author(s):  
Jeremy V. Lynn ◽  
Kavitha Ranganathan ◽  
Matthew H. Bageris ◽  
Tami Hart-Johnson ◽  
Steven R. Buchman ◽  
...  
Keyword(s):  
At Risk ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Child Protective Services ◽  
Social Background ◽  
Missed Appointments ◽  
Protective Services ◽  
Ann Arbor ◽  
Average Patient ◽  
The Impact

Objective: To identify disparities in compliance of and care for patients with cleft lip and/or palate (CL/P) by determining the impact of sociodemographic variables on the rate of missed appointments and Child Protective Services (CPS) involvement. Design: A retrospective, noninterventional quality assessment and quality improvement study were designed. Setting: This institutional study was performed at the University of Michigan in Ann Arbor, Michigan. Patients: All patients born between January 1, 2011, and December 31, 2014, who underwent surgical CL/P repair, excluding those with fewer than 5 appointments (n = 178). Main Outcome Measure: The rate of missed appointments, calculated as the total number of no-show appointments divided by the total number of scheduled appointments. All appointments from CL/P diagnosis to data collection were considered, including those outside of plastic surgery. Results: The average patient was 4.5 years of age and had 49 total scheduled appointments. The overall rate of missed appointments was 9.6%, with 66.8% of patients missing at least 1 scheduled visit. Patients who were black ( P = .04), not affiliated with a religion ( P = .01), Medicaid users ( P = .01), from an unstable social background ( P = .01), or received need-based financial assistance ( P = .00) were significantly more likely to miss appointments. Child Protective Services was involved with 3.9% of patients. Conclusions: Disparities exist in attendance rates among patients with CL/P, and at-risk patient populations have been identified. The allocation of cleft care resources must be efficiently planned in order to enhance the quality of care for at-risk individuals.

Greater Palatal Cleft Width Predicts an Increased Risk for Unfavorable Outcomes in Cleft Palate Repair

2021 ◽  
pp. 105566562110295
Author(s):  
Åsa C. Okhiria ◽  
Fatemeh Jabbari ◽  
Malin M. Hakelius ◽  
Monica M. Blom Johansson ◽  
Daniel J. Nowinski
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
University Hospital ◽  
Velopharyngeal Insufficiency ◽  
Secondary Surgery ◽  
Increased Risk ◽  
Cleft Palate Repair ◽  
The Impact ◽  
Nasal Emission

Objective: To investigate the impact of cleft width and cleft type on the need for secondary surgery and velopharyngeal competence from a longitudinal perspective. Design: Retrospective, longitudinal study. Setting: A single multidisciplinary craniofacial team at a university hospital. Patients: Consecutive patients with unilateral or bilateral cleft lip and palate and cleft palate only (n = 313) born from 1984 to 2002, treated with 2-stage palatal surgery, were reviewed. A total of 213 patients were included. Main Outcome Measures: The impact of initial cleft width and cleft type on secondary surgery. Assessment of hypernasality, audible nasal emission, and glottal articulation from routine follow-ups from 3 to 16 years of age. The assessments were compared with reassessments of 10% of the recordings. Results: Cleft width, but not cleft type, predicted the need for secondary surgery, either due to palatal dehiscence or velopharyngeal insufficiency. The distribution of cleft width between the scale steps on a 4-point scale for hypernasality and audible nasal emission differed significantly at 5 years of age but not at any other age. Presence of glottal articulation differed significantly at 3 and 5 years of age. No differences between cleft types were seen at any age for any speech variable. Conclusions: Cleft width emerged as a predictor of the need for secondary surgery as well as more deviance in speech variables related to velopharyngeal competence during the preschool years. Cleft type was not related to the need for secondary surgery nor speech outcome at any age.

Duration of Surgery, Ventilation, and Length of Hospital Stay Do Not Affect Breastfeeding in Newborns After Early Cleft Lip Repair

2020 ◽  
pp. 105566562094911
Author(s):  
Iva Burianova ◽  
Milos Cerny ◽  
Jiri Borsky ◽  
Kristyna Zilinska ◽  
Jana Dornakova ◽  
...  
Keyword(s):  
Hospital Stay ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Surgical Repair ◽  
Artificial Ventilation ◽  
Duration Of Hospital Stay ◽  
Duration Of Surgery ◽  
Ventilation Support ◽  
Cleft Lip Repair ◽  
The Impact

Objective: There are minimal data available on nutrition after early repair of cleft lip and the factors influencing initiation of breastfeeding. This study assessed the impact of the length of surgery, length of ventilation support, and duration of hospital stay on breastfeeding rates after early cleft lip surgery. Design: This is a prospective observational cohort study comparing 2 hospitals providing early surgical repair of facial clefts from January 2014 to December 2016. Both hospitals are designated as Baby-Friendly Hospitals. Demographic and anthropometric data from mothers and newborns were recorded. Setting: Tertiary neonatal and pediatric surgery center. Patients: Hospital A: 61 newborns, Hospital B: 157 newborns. Interventions: Early (day 5 to 14) cheiloplasty in newborns with cleft lip or cleft lip and palate. Main Outcome Measures: Influence of duration of hospital stay, length of operation, and artificial ventilation on the rate of breastfeeding. Results: Significantly, more newborns were breastfed following early surgical repair of an isolated cleft lip compared to those with both cleft lip and palate, in both hospitals (hospital A 82% vs 0%, P = .0001, hospital B 66% vs 5%, P = .0001). Duration of hospital stay, length of operation, and duration of artificial ventilation did not significantly affect the rate of breastfeeding. Conclusions: The factors associated with early cleft lip repair (length of operation, length of ventilation support, and duration of hospital stay) do not affect breastfeeding rate.

Prenatal Diagnosis of Cleft Lip and Palate

2003 ◽  
Vol 40 (2) ◽  
pp. 186-189 ◽  
Author(s):  
N. Johnson ◽  
Jonathan R. Sandy
Keyword(s):  
Prenatal Diagnosis ◽  
Early Diagnosis ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Reliability And Validity ◽  
Review Article ◽  
Ultrasound Diagnosis ◽  
Orofacial Clefting ◽  
The Impact

Objective The use of ultrasound for the prenatal diagnosis of cleft lip and palate has aided considerably in the early diagnosis of orofacial clefting. The impact and consequences of this need to be considered as the reliability and validity of ultrasound diagnosis increases. This review article considers a number of these issues as well as up-to-date information on the quality of the technique.

Internationally Adopted Children With Unilateral Cleft Lip and Palate—Consonant Proficiency and Perceived Velopharyngeal Competence at the Age of 5

2020 ◽  
Vol 57 (7) ◽  
pp. 849-859 ◽  
Author(s):  
AnnaKarin Larsson ◽  
Carmela Miniscalco ◽  
Hans Mark ◽  
Johnna Sahlsten Schölin ◽  
Radi Jönsson ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tertiary Hospital ◽  
Speech Disorders ◽  
Adopted Children ◽  
Daily Lives ◽  
Speech Characteristics ◽  
The Impact ◽  
Percentage Correct ◽  
Internationally Adopted

Objective: To compare consonant proficiency, consonant errors, and the perceived velopharyngeal (VP) competence in internationally adopted (IA) children with unilateral cleft lip and palate (UCLP) and nonadopted (NA) children with the same cleft–palate type at age 5. Design: Case–control study based on phonetic transcriptions of standardized speech recordings of 5-year-olds at a tertiary hospital. Participants: Twenty-five IA children were compared to 20 NA children. All consecutive patients at a cleft lip and palate center participated. Main Outcome Measure(s): Consonant proficiency was measured using percentage consonants correct, percentage consonants correct–adjusted for age, percentage correct place, percentage correct manner, and consonant inventory. Cleft speech characteristics (CSCs), developmental speech characteristics (DSCs), and the perceived VP competence were also measured. Results: The IA children had significantly lower values for all consonant proficiency variables ( p < .05) and a smaller consonant inventory ( p = .001) compared to the NA children. The IA children had a higher frequency of CSCs (IA = 84%, NA = 50%, p < .05) and DSCs (IA = 92%, NA = 65%, p = .057), and twice as many IA children as NA children had perceived VP incompetence (IA = 52%, NA = 25%, p = .17). Conclusions: Severe speech disorder was more common in IA children than in NA children at age 5. Most importantly, the speech disorders seem to be not only cleft-related. More detailed speech assessments with a broader focus are needed for IA children with UCLP. Longitudinal studies are recommended to further investigate the impact of speech difficulties in IA children’s daily lives.

Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy

2020 ◽  
pp. jmedgenet-2020-106833
Author(s):  
Valeria Morbidoni ◽  
Emanuele Agolini ◽  
Kevin C Slep ◽  
Luca Pannone ◽  
Daniela Zuccarello ◽  
...  
Keyword(s):  
Sensory Neurons ◽  
Developmental Disorders ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Missense Variant ◽  
Causative Role ◽  
Biallelic Mutations ◽  
The Impact

BackgroundDysfunction in non-motile cilia is associated with a broad spectrum of developmental disorders characterised by clinical heterogeneity. While over 100 genes have been associated with primary ciliopathies, with wide phenotypic overlap, some patients still lack a molecular diagnosis.ObjectiveTo investigate and functionally characterise the molecular cause of a malformation disorder observed in two sibling fetuses characterised by microphthalmia, cleft lip and palate, and brain anomalies.MethodsA trio-based whole exome sequencing (WES) strategy was used to identify candidate variants in the TOGARAM1 gene. In silico, in vitro and in vivo (Caenorhabditis elegans) studies were carried out to explore the impact of mutations on protein structure and function, and relevant biological processes.ResultsTOGARAM1 encodes a member of the Crescerin1 family of proteins regulating microtubule dynamics. Its orthologue in C. elegans, che-12, is expressed in a subset of sensory neurons and localises in the dendritic cilium where it is required for chemosensation. Nematode lines harbouring the corresponding missense variant in TOGARAM1 were generated by CRISPR/Cas9 technology. Although chemotaxis ability on a NaCl gradient was not affected, che-12 point mutants displayed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. Finally, in vitro analysis of microtubule polymerisation in the presence of wild-type or mutant TOG2 domain revealed a faster polymerisation associated with the mutant protein, suggesting aberrant tubulin binding.ConclusionsOur data are in favour of a causative role of TOGARAM1 variants in the pathogenesis of this novel disorder, connecting this gene with primary ciliopathy.

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