Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia

Objective: The prevalence of cleft lip and/or palate (CL/P) in Northern Ireland (NI) was last reported for 1980 through 1990. This study was undertaken to update the prevalence of CL/P in NI for the 20-year period 1981 to 2000, to determine the pattern of prevalence, and to report the proportion of different cleft types and sex distribution. Design: Retrospective, population-based analysis. Patients/participants: All live born children with CL/P in NI from 1981 to 2000 were included. A total of 750 cases were identified. Resident births outside NI, stillbirths, abortuses, and children born with atypical orofacial clefts were excluded. Those with syndromes and submucous clefts were included in the study. Results: The overall prevalence of children born with CL/P within NI for the period 1981 to 2000 was 1.47 per 1000 live births, or 1:682. This was consistent with the findings reported by other U.K. studies. There were no significant changes in the prevalence rates over any 5-year period. No significant seasonality trends were noted. Clefts of the palate only were always in the majority. More boys than girls were affected by cleft lip with or without cleft palate. There was a significant left-sided predilection for unilateral clefting of the lip. Conclusions: There have been no significant changes in the birth prevalence of children born with CL/P or the distribution or laterality of cleft type in the NI population during the past 20 years.

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Immediate rehabilitation with feeding appliance of a three day old neonate with cleft lip and palate- a case report

Journal of College of Medical Sciences-Nepal ◽

10.3126/jcmsn.v13i2.17122 ◽

2017 ◽

Vol 13 (2) ◽

pp. 293-295

Author(s):

Deepika Kapoor ◽

Deepanshu Garg

Keyword(s):

Case Report ◽

Cleft Lip ◽

Multidisciplinary Approach ◽

Cleft Lip And Palate ◽

Facial Growth ◽

Orofacial Clefts ◽

High Incidence ◽

Negative Effect ◽

Growth Development ◽

Very High

Orofacial clefts (OFC) are one of the most common congenital problems seen with a very high incidence. It imparts a negative effect on the overall health of the child by hindering in his feeding practices, normal facial growth, development of dentition and hence speech. Infants born with orofacial clefts have oronasal communication which creates a problem with the creation of negative pressure inside the oral cavity required for suckling.The treatment for such patients is with the multidisciplinary approach but the preliminary concern for the neonate is to help with the feeding for which a feeding appliance is given. This case report presents a case of a 3-day old infant to whom a feeding appliance was given to aid in suckling.

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Case–Parent Trio Studies in Cleft Lip and Palate

Global Medical Genetics ◽

10.1055/s-0040-1722097 ◽

2020 ◽

Vol 07 (03) ◽

pp. 075-079

Author(s):

Mahamad Irfanulla Khan ◽

Prashanth CS

Keyword(s):

Genetic Variants ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Association Studies ◽

Geographical Location ◽

Genetic Association Studies ◽

Population Based ◽

Genome Wide Association Studies ◽

Family Based ◽

Study Designs

AbstractCleft lip with or without cleft palate (CL/P) is one of the most common congenital malformations in humans involving various genetic and environmental risk factors. The prevalence of CL/P varies according to geographical location, ethnicity, race, gender, and socioeconomic status, affecting approximately 1 in 800 live births worldwide. Genetic studies aim to understand the mechanisms contributory to a phenotype by measuring the association between genetic variants and also between genetic variants and phenotype population. Genome-wide association studies are standard tools used to discover genetic loci related to a trait of interest. Genetic association studies are generally divided into two main design types: population-based studies and family-based studies. The epidemiological population-based studies comprise unrelated individuals that directly compare the frequency of genetic variants between (usually independent) cases and controls. The alternative to population-based studies (case–control designs) includes various family-based study designs that comprise related individuals. An example of such a study is a case–parent trio design study, which is commonly employed in genetics to identify the variants underlying complex human disease where transmission of alleles from parents to offspring is studied. This article describes the fundamentals of case–parent trio study, trio design and its significances, statistical methods, and limitations of the trio studies.

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Morphological Presentation of Orofacial Clefts: An Epidemiological Study of 5004 Patients in a Tertiary Care Hospital of Central India

The Cleft Palate-Craniofacial Journal ◽

10.1177/10556656211057739 ◽

2021 ◽

pp. 105566562110577

Author(s):

Jaideep Singh Chauhan ◽

Sarwpriya Sharma

Keyword(s):

Cleft Palate ◽

Epidemiological Study ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Tertiary Care ◽

Central India ◽

Care Hospital ◽

Orofacial Clefts ◽

Chi Square ◽

The Right

Objective: To analyse the morphological presentation of orofacial clefts, gender, syndromes and systemic anomalies associated with them. Design: This was an epidemiological study performed in the patients who were registered for cleft lip and palate surgeries in our centre. The data was evaluated both retrospectively as well as prospectively. Patients/ Participants: The patients registered from November 2006 to April 2021 were studied. Out of 5276 patients, data of 5004 cases were analysed, rest 272 patients were excluded due to lack of information. Statistical analysis and Chi square test were applied. Results: Cleft deformities were more common in males than females. Cleft lip with palate was the commonest phenotype (52.2%). It was followed by isolated cleft lip (22.9%), isolated cleft palate (22.1%), rare clefts (1.62%) and syndromic clefts (1.18%). Unilateral variants were more frequent than bilateral. In unilateral, left side was more common than the right side. Among bilateral, most of the cases had premaxillary protrusion. In the present study, 3.46% of all the patients had associated anomalies affecting their other organs. Less common cleft phenotypes like microform cleft lip and submucous cleft palate ± bifid uvula showed frequency of 0.62% and 0.64% respectively. Conclusion: Thorough examination of cleft deformity should be done as it may appear as an isolated deformity or part of a syndrome and have associated systemic anomalies. This may help us to deliver comprehensive care to the patients and can prevent potential operative complications.

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Atuação Fonoaudiológica e Fisioterápica nas Fissuras Orofaciais não Sindrômicas

UNICIÊNCIAS ◽

10.17921/1415-5141.2020v24n2p205-210 ◽

2021 ◽

Vol 24 (2) ◽

pp. 205-210

Author(s):

Carla Meliso Rodrigues Silvestre ◽

Ana Clara Giraldeli ◽

Luana Borges Estevão ◽

Eliane Gomes Fernandes de Oliveira ◽

Cristhiane Almeida Leite da Silva ◽

...

Keyword(s):

Quality Of Life ◽

Cleft Lip ◽

Speech Therapy ◽

Cleft Lip And Palate ◽

Functional Independence ◽

Oral Feeding ◽

Orofacial Clefts ◽

Long Term Treatment ◽

Speech Therapist

A fissura de lábio e ou de palato não sindrômicas são anomalias congênitas craniofaciais mais frequentes. Elas ocasionam problemas estéticos e funcionais que requerem tratamento em longo prazo, envolvendo reabilitação multidisciplinar incluindo a fonoaudiologia e fisioterapia. Este estudo propõem apresentar alguns dos princípios de atuação do fonoaudiólogo e do fisioterapeuta nas fissuras orofaciais não sindrômicas. Realizou-se uma revisão de literatura narrativa com busca na Bireme e Scielo e nas bases Lilacs, Pedro e PubMed em outubro de 2020, envolvendo a atuação do fonoaudiólogo e do fisioterapeuta nas fissuras orofaciais não sindrômica, no idioma inglês e português, sem recorte temporal. Os estudos encontrados observaram que a intervenção fonoaudiológica e fisioterapêutica deve ser mais precoce e de acordo com a disfunção apresentada. De modo geral, a atuação do fonoaudiólogo favorece a alimentação oral e o desenvolvimento global referente à linguagem, a fala, audição e neuropsicomotor, para evitar atrasos e favorecer o melhor desenvolvimento infantil. A atuação fisioterapêutica visa diminuir a hospitalização prolongada, melhorar a qualidade de vida e funcionalidade, bem como assistir as crianças que cursarem com problemas motores, posturais e respiratórios. Conclui-se que a atuação fonoaudiológica nas diferentes fases da reabilitação de indivíduos com fissuras labiopalatinas contribui para alimentação e inteligibilidade da fala, beneficiando assim a comunicação verbal e consequentemente a interação com o meio social; e a assistência fisioterapêutica ajuda e melhorar a sintomatologia e as disfunções respiratórias apresentadas, prevenindo e tratando complicações de forma a melhorar a qualidade de vida e restabelecer a independência funcional. Palavras-chave: Fissura Palatina. Fenda Labial. Aleitamento Materno. Fala. Fisioterapia. Abstract Non-syndromic cleft lip and or palate are the most frequent congenital craniofacial anomalies. They cause aesthetic and functional problems that require long-term treatment, involving rehabilitation including speech therapy and physiotherapy. This study proposes to present some of the principles of performance of the speech therapist and physiotherapist in non-syndromic orofacial clefts. A narrative literature review was carried out with searches in Bireme and Scielo and in the Lilacs, Pedro and PubMed databases in October 2020, involving the performance of the speech therapist and physiotherapist in non-syndromic orofacial clefts, in English and Portuguese, with no time frame. The studies observed that speech therapy and physiotherapy intervention should be as earlier and in accordance with the presented dysfunction. In general, the performance of the speech therapist favors oral feeding and the global development related to language, speech, hearing and neuropsychomotor, to avoid delays and favor best child development. Physiotherapeutic action aims to reduce the prolonged hospitalization, improve quality of life and functionality, as well as assist children who are experiencing motor, postural and respiratory problems. It is concluded that the speech therapy performance in the different phases of rehabilitation of individuals with cleft lip and palate contributes to feeding and speech intelligibility, thus benefiting verbal communication and consequently the interaction with the social environment; and physiotherapeutic assistance helps and improves the symptoms and respiratory disorders presented, preventing and treating complications in order to improve the quality of life and restore functional independence. Keywords: Cleft Palate. Cleft Lip. Breast Feeding. Speech. Physiotherapy.

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School performance for children with cleft lip and palate: a population-based study

Child Care Health and Development ◽

10.1111/cch.12388 ◽

2016 ◽

Vol 43 (2) ◽

pp. 222-231 ◽

Cited By ~ 5

Author(s):

J. C. Bell ◽

C. Raynes-Greenow ◽

R. Turner ◽

C. Bower ◽

A. Dodson ◽

...

Keyword(s):

School Performance ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Population Based ◽

Population Based Study

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Socioeconomic Status and Orofacial Clefts in Scotland, 1989 to 1998

The Cleft Palate-Craniofacial Journal ◽

10.1597/1545-1569_2003_040_0481_ssaoci_2.0.co_2 ◽

2003 ◽

Vol 40 (5) ◽

pp. 481-485 ◽

Cited By ~ 29

Author(s):

J. D. Clark ◽

P. A. Mossey ◽

L. Sharp ◽

J. Little

Keyword(s):

Risk Factors ◽

Socioeconomic Status ◽

Cleft Lip ◽

Population Based ◽

Orofacial Clefts ◽

Smoking During Pregnancy ◽

Live Births ◽

Strong Positive Relationship ◽

The Relationship ◽

Deprived Areas

Objective The purpose of this study was to investigate the association between socioeconomic status and orofacial clefts (OFC) in Scotland. Design Study of prevalence at birth over a 10-year period using an area-based measure of material deprivation. Setting Population-based study throughout Scotland. Participants Eight hundred thirty-four live births with OFC born between January 1, 1989, and December 31, 1998, ascertained from the nationwide register of the Cleft Service in Scotland, compared with the total 603,825 live births in Scotland in this period. Results There was a strong positive relationship whereby the prevalence of OFC at birth increased with increasing deprivation. This trend was statistically significant for cleft lip and/or palate (CL[P]: p = .016) but not for cleft palate (CP; p = .078). For each type of cleft, the relative risk among those resident in the most deprived areas, compared with those resident in the least deprived areas, was 2.33. Conclusions The association between OFC and socioeconomic status is consistent with a report for an earlier period in a smaller part of Scotland. Unlike the earlier study, this pattern appears to be stronger for CL(P) than for CP. These observations do not appear to be an artifact of recording. It is possible that they reflect the association between deprivation and risk factors for OFC, most likely tobacco smoking during pregnancy. Because the relationship between OFC and socioeconomic status appears to have been virtually unstudied in other populations, it would be valuable to investigate this relationship elsewhere and determine whether known risk factors account for the relationship.

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Surgical Repair of Orofacial Clefts in North Kivu Province of Eastern Democratic Republic of Congo (DRC)

The Cleft Palate-Craniofacial Journal ◽

10.1177/1055665620947604 ◽

2020 ◽

Vol 57 (11) ◽

pp. 1314-1319

Author(s):

Luc Malemo Kalisya ◽

Jacques Fadhili Bake ◽

Bake Elisee ◽

Kavira Nyavandu ◽

Robert Perry ◽

...

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Democratic Republic ◽

Cleft Lip And Palate ◽

Surgical Repair ◽

Democratic Republic Of Congo ◽

Orofacial Clefts ◽

Republic Of Congo ◽

General Surgeons ◽

North Kivu

Background: There is a high prevalence of orofacial clefts in low- and middle-income countries with significant unmet need, despite having 50% of the population younger than 18 years in countries such as the Democratic Republic of Congo (DRC). The purpose of this article is to report on the experience of general surgeons with orofacial clefts at a single institution. Methods: This is a retrospective study of patients treated for cleft lip/palate in the province of North Kivu, DRC between 2008 and 2017. Results: A total of 1112 procedures (122/year) were performed. All procedures were performed by general surgeons following training by an international nongovernmental aid organization. A total of 59.2% of patients were male and the median age was 3.4 years (interquartile range: 0.7-13 years). Average distance from surgical center to patient location was 242.6 km (range: 2-1375 km) with outreach performed for distances >200 kms. A majority (82.1%) of patients received general anesthesia (GA) with significant differences in use of GA, age, weight, and length of stay by major orofacial cleft category. Of the 1112 patients, 86.1% were reported to have cleft lip alone, 10.5% had cleft lip and palate, and 3.4% cleft palate alone. Despite this, only 5.3% of patients underwent surgical repair of cleft palate. Conclusions: Multiple factors including malnutrition, risk of bleeding, procedural complexity, and cosmetic results may contribute to the distribution of procedures performed where most cleft palates are not treated. Based on previously published estimates, unmet needs and social burden of cleft lip and palate are high in the DRC.

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Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study

Journal of Medical Science ◽

10.20883/medical.78 ◽

2016 ◽

Vol 83 (3) ◽

pp. 265-268 ◽

Cited By ~ 3

Author(s):

Adrianna Mostowska ◽

Kamil K. Hozyasz ◽

Piotr Wójcicki ◽

Barbara Biedziak ◽

Joanna Wesoły ◽

...

Keyword(s):

Association Study ◽

Cleft Lip ◽

Genome Wide Association Study ◽

Cleft Lip And Palate ◽

Genome Wide Association ◽

Polish Population ◽

Orofacial Clefts ◽

New Genes ◽

Genome Wide ◽

History Of

The project “Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study” is a case-control study in a group of unrelated subjects with non-syndromic cleft lip with or without cleft palate (NSCL/P) and healthy individuals with no family history of clefting or other congenital disorders. The overall goal of this grant proposal is to identify novel genetic factors, which can play a significant role in the pathogenesis of orofacial clefts in the Polish population. To accomplish the proposed aim, a two stage genome-wide association study will be performed. In the first stage, Illumina's HumanOmni Express BeadChips arrays will be used to genotype over 700,000 polymorphisms in NSCL/P patients and controls. In the second stage, SNPs showing the most compelling association with the risk of orofacial clefts will be tested in an independent sample set using standard genotyping methods. This research project is expected to be completed in July 2015.

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