RESUMEN
Introduction: the objective of this study was to determine the quality of life (QoL) of the patient with a cleft lip or palate scheduled for surgery. Methods: this analytic multicenter cross-sectional study involved six participating Smile Train Partner Hospitals from five geopolitical zones of the country and three major ethnic groups. Patients with cleft lip or cleft palate aged between 8 to 29 years scheduled for repair were recruited. The main outcome measure was quality of life scores as measured by cleft Q. Results: thirty-four (females 18, males 16) patients were scheduled for surgery of either cleft lip n=7 (20.6%) or cleft palate n=27 (79.4). Patients scheduled for primary surgeries were more than those for secondary surgeries, 23 (68.7%) vs 10 (30.3%). Of the QoL scales, the speech distress score was the least (56.0 ± 22.6) and the psychological score highest (73.9 ± 15.8). All QoL mean scores except the psychological score fell below normative cleft Q scores. The psychological scores in males (80.9 ± 16.2) were significantly higher than in females (67.7 ± 12.9, p=0.01). Patients for lip repair had lower psychological scores than those for palatal repair (median=59 vs 73, p=0.01). Patients for palate repair demonstrated significantly lower speech function and distress scores than those for lip repair (p=0.01, p<0.01 respectively). Conclusion: most of the QoL measures in patients with cleft lip and palate in this study fell below normative values. Gender and cleft type affect the quality of life. A larger study is recommended to establish national normative data.
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Labio Leporino , Fisura del Paladar , Calidad de Vida , Humanos , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Estudios Transversales , Masculino , Femenino , Proyectos Piloto , Adolescente , Nigeria , Niño , Adulto , Adulto Joven , Factores Sexuales , Periodo PreoperatorioRESUMEN
Cleft palate presents multifaceted challenges impacting speech, hearing, appearance, and cognition, significantly affecting patients' quality of life (QoL). While surgical advancements aim to restore function and improve appearance, traditional clinical measures often fail to comprehensively capture patients' experiences. Patient-reported outcomes measure (PROMs) have emerged as crucial tools in evaluating QoL, offering insights into various aspects such as esthetic results, speech function, and social integration. This review explores PROMs relevant to cleft palate complications, including velopharyngeal insufficiency, oronasal fistulas, maxillary hypoplasia, sleep-disordered breathing, and caregiver QoL. Additionally, the review highlights the need for cleft palate-specific scales to better address the unique challenges faced by patients. By incorporating PROMs, healthcare providers can achieve more personalized, patient-centered care, improve communication, and enhance treatment outcomes. Future research should focus on developing and validating specialized PROMs to further refine patient assessments and care strategies.
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Fisura del Paladar , Medición de Resultados Informados por el Paciente , Calidad de Vida , Humanos , Fisura del Paladar/cirugía , Insuficiencia VelofaríngeaRESUMEN
OBJECTIVE: Aim: To determine the state of dental health and the state of systemic immunity in patients in congenital cleft lip and palate patients. PATIENTS AND METHODS: Materials and Methods: The dental status and immunologic tests of 74 patients age 8-18 years old with congenital cleft lip and palate was analyzed: 43 children with unilateral and 31 children with bilateral complete combined cleft lip, alveolar process, hard and soft palate. RESULTS: Results: Indicators of the prevalence and intensity of the caries process in patients with congenital congenital complete cleft lip, alveolar process, hard and soft palate were high, especially in children with bilateral cleft lip and palate - the decompensated course of caries was determined in 41.93% patients, with unilateral - 23.25%. Сhronic catarrhal gingivitis was the most common in both groups of patients - the average severity of gingivitis prevailed - 51.16% with congenital unilateral cleft lip and palate and 51.61% - with bilateral. Atopic cheilitis, glossitis and chronic recurrent aphthous stomatitis were common. This patients have significant changes in the cellular chain of the immune system with a deficiency of the main phenotypes of lymphocytes - CD4+ CD8+ and inflammatory bacterial changes in blood serum. CONCLUSION: Conclusions: Patients of unilateral and bilateral complete combined cleft lip, alveolar process, hard and soft palate have significant changes in the dental status and in the cellular chain of the immune system. The level of manifestation of these changes is directly proportional to the extent of localization of the pathology - unilateral or bilateral.
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Labio Leporino , Fisura del Paladar , Humanos , Labio Leporino/inmunología , Fisura del Paladar/inmunología , Masculino , Femenino , Adolescente , Niño , Caries Dental/inmunologíaRESUMEN
BACKGROUND: This study evaluates a three-dimensional (3D) visualisation design combined with customized surgical guides to assist anterior maxillary segmental distraction osteogenesis (AMSDO) in correcting maxillary hypoplasia in adolescents with cleft lip and palate (CLP), focusing on treatment outcomes, satisfaction and the validity of 3D planning. METHODS: This retrospective cohort study was conducted at a single hospital in China. Between January 2020 and December 2023, 12 adolescents with CLP with maxillary hypoplasia were included. An advanced 3D simulation was used to convey the treatment strategy to the patients and their families. A customized surgical guide and distraction osteogenesis device were designed. Cephalometric analysis evaluated AMSDO changes and long-term stability. Patient satisfaction was assessed. The Chinese version of the Child Oral Health Impact Profile was used to evaluate the children's oral health-related quality of life before and after treatment. The postoperative outcomes were compared with the planned outcomes by superimposing the actual postoperative data onto the simulated soft tissue models and calculating the linear and angular differences between them. RESULTS: One patient experienced postoperative gingivitis, yielding an 8.33% complication rate. Most patients (83.33%) were highly satisfied with the target position, with the rest content. Cephalometric analysis showed significant improvements in various indices post-traction. Quality-of-life scores significantly improved post-treatment. The discrepancies in facial soft tissue between the simulated and actual results were within clinically satisfactory ranges. CONCLUSIONS: Digitally designed surgical guides effectively treat maxillary hypoplasia in adolescents with CLP, ensuring stability, reducing complications, reducing dependency on operator experience, and enhancing satisfaction and health outcomes. Although the simulated results were clinically acceptable, it is important to inform patients of potential variations in the predicted soft tissue.
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Labio Leporino , Fisura del Paladar , Imagenología Tridimensional , Maxilar , Osteogénesis por Distracción , Humanos , Labio Leporino/cirugía , Labio Leporino/complicaciones , Adolescente , Fisura del Paladar/cirugía , Fisura del Paladar/complicaciones , Osteogénesis por Distracción/métodos , Estudios Retrospectivos , Femenino , Masculino , Maxilar/anomalías , Maxilar/cirugía , Imagenología Tridimensional/métodos , Resultado del Tratamiento , Satisfacción del Paciente , Cefalometría , Calidad de Vida , NiñoRESUMEN
OBJECTIVES: To evaluate the effects of bone-anchored maxillary protraction (BAMP) treatment and longterm stability in growing cleft lip and palate and isolated cleft palate (CLP/CP) patients with mild maxillary hypoplasia and to compare maxillary growth patterns of BAMP-treated patients to matched control CLP/CP patients. MATERIALS AND METHODS: Ten patients with CLP/CP were treated with BAMP; they were compared to the maxillary growth pattern of 10 age-matched cleft control patients with no maxillary protraction treatment, who later received surgical Le Fort I maxillary advancement after the growth period. The assessment of maxillary growth and the occlusion started at mean 8 years of age and continued until mean 18 years of age. RESULTS: The use of BAMP orthopedic traction changed the growth pattern of mild hypoplastic maxilla toward a more anterior direction and advanced the face even above the level of Le Fort lll with only a minor effect on dentoalveolar units. The correction of occlusion and facial convexity were stable in the long term. CONCLUSIONS: The using BAMP may improve the position of the maxilla relative to the anterior cranial base for the correction of mild maxillary hypoplasia in adolescent patients with CLP/CP. The achieved results are rather stable in the long term.
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Labio Leporino , Fisura del Paladar , Maxilar , Humanos , Fisura del Paladar/terapia , Labio Leporino/terapia , Estudios de Casos y Controles , Niño , Masculino , Maxilar/crecimiento & desarrollo , Maxilar/anomalías , Femenino , Estudios de Seguimiento , Adolescente , Métodos de Anclaje en Ortodoncia/métodos , Desarrollo Maxilofacial , Técnica de Expansión Palatina , Cefalometría , Osteotomía Le Fort/métodos , Resultado del TratamientoRESUMEN
OBJECTIVES: To compare upper airway changes following bimaxillary surgery for correction of Class III deformity between patients with unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) and to compare the preoperative and postoperative upper airway among patients with UCLP and BCLP to healthy controls. MATERIALS AND METHODS: Sixty adults with CLP-related skeletal Class III deformity (30 UCLP and 30 BCLP) who consecutively underwent bimaxillary surgery were studied retrospectively. Cone-beam computed tomography (CBCT) was performed before and after surgery to measure upper airway and movements of facial skeletal and surrounding structures. CBCT images from 30 noncleft skeletal Class I adults, matched by age, gender, and body mass index and without surgical intervention, served as controls. RESULTS: After surgery, the volume of the nasopharynx increased in patients with CLP (both P < .001). Patients with CLP did not differ from controls in postoperative volume of the nasopharynx or oropharynx. However, the nasal cavity differed significantly between patients with CLP and controls (P < .001). CONCLUSIONS: After bimaxillary surgery, the nasal cavity of patients with CLP differed significantly compared with the controls. Volumes of the nasopharynx and oropharynx did not differ between patients with CLP after surgery and controls.
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Labio Leporino , Fisura del Paladar , Tomografía Computarizada de Haz Cónico , Maloclusión de Angle Clase III , Maxilar , Nasofaringe , Humanos , Femenino , Masculino , Tomografía Computarizada de Haz Cónico/métodos , Fisura del Paladar/cirugía , Fisura del Paladar/diagnóstico por imagen , Labio Leporino/cirugía , Labio Leporino/diagnóstico por imagen , Maloclusión de Angle Clase III/cirugía , Maloclusión de Angle Clase III/diagnóstico por imagen , Estudios Retrospectivos , Adulto , Nasofaringe/diagnóstico por imagen , Maxilar/cirugía , Maxilar/diagnóstico por imagen , Procedimientos Quirúrgicos Ortognáticos/métodos , Orofaringe/diagnóstico por imagen , Adulto Joven , Cavidad Nasal/diagnóstico por imagen , Estudios de Casos y Controles , Adolescente , Resultado del TratamientoRESUMEN
Cleft lip and/or palate (CL/P) are the most common congenital anomalies in the craniofacial region, leading to morphological and functional disruptions in the facial region. Their etiology involves genetic and environmental factors, with genetics playing a crucial role. This study aimed to investigate the association of four single nucleotide polymorphisms (SNPs)-rs987525, rs590223, rs522616, and rs4714384-with CL/P in the Polish population. We analyzed DNA samples from 209 individuals with CL/P and 418 healthy controls. The impact of SNPs on the presence of CL/P was assessed using multivariate logistic regression. Significant associations were found with rs987525. Specifically, the AC genotype was linked to an increased CL/P risk (odds ratio [OR] = 1.95, 95% confidence interval [CI]: 1.34-2.83, p < 0.001), while the CC genotype was associated with a decreased risk (OR = 0.46, 95% CI: 0.32-0.67, p < 0.001). Rs4714384 was also significant, with the CT genotype correlated with a reduced risk of CL/P (OR = 0.66, 95% CI: 0.46-0.94, p = 0.011). SNPs rs590223 and rs522616 did not show statistically significant associations. These results underscore the role of rs987525 and rs4714384 in influencing CL/P risk and suggest the utility of genetic screening in understanding CL/P etiology.
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Labio Leporino , Fisura del Paladar , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Humanos , Labio Leporino/genética , Labio Leporino/epidemiología , Fisura del Paladar/genética , Fisura del Paladar/epidemiología , Polonia/epidemiología , Femenino , Masculino , Genotipo , Estudios de Casos y Controles , Frecuencia de los Genes , Oportunidad RelativaRESUMEN
Importance: Cleft lip or palate is a prevalent birth defect, occurring in approximately 1 to 2 per 1000 newborns and often necessitating numerous hospitalizations. Specific rates of hospitalization and complication are underexplored. Objective: To assess the rates of airway infection-associated hospitalization, overall hospital admissions, in-hospital complications, and mortality among children with a cleft lip or palate. Design, Setting, and Participants: This nationwide, population-based cohort study used in-hospital claims data from the Federal Statistical Office in Switzerland between 2012 and 2021. Participants included newborns with complete birth records born in a Swiss hospital. Data were analyzed from March to November 2023. Exposure: Prevalent diagnosis of a cleft lip or palate at birth. Main Outcomes and Measures: Outcomes of interest were monthly hospitalization rates for airway infections and any cause during the first 2 years of life in newborns with cleft lip or palate. In-hospital outcomes and mortality outcomes were also assessed, stratified by age and modality of surgical intervention. Results: Of 857â¯806 newborns included, 1197 (0.1%) had a cleft lip and/or palate, including 170 (14.2%) with a cleft lip only, 493 (41.2%) with a cleft palate only, and 534 (44.6%) with cleft lip and palate. Newborns with cleft lip or palate were more likely to be male (55.8% vs 51.4%), with lower birth weight (mean [SD] weight, 3135.6 [650.8] g vs 3284.7 [560.7] g) and height (mean [SD] height, 48.6 [3.8] cm vs 49.3 [3.2] cm). During the 2-year follow-up, children with a cleft lip or palate showed higher incidence rate ratios (IRRs) for hospitalizations due to airway infections (IRR, 2.33 [95% CI, 1.98-2.73]) and for any reason (IRR, 3.72 [95% CI, 3.49-3.97]) compared with controls. Additionally, children with cleft lip or palate had a substantial increase in odds of mortality (odds ratio [OR], 17.97 [95% CI, 11.84-27.29]) and various complications, including the need for intubation (OR, 2.37 [95% CI, 1.95-2.87]), extracorporeal membrane oxygenation (OR, 2.89 [95% CI, 1.81-4.63]), cardiopulmonary resuscitation (OR, 3.25 [95% CI, 2.21-4.78]), and respiratory support (OR, 1.94 [95% CI, 1.64-2.29]). Conclusions and Relevance: In this nationwide cohort study, the presence of cleft lip or palate was associated with increased hospitalization rates for respiratory infections and other causes, as well as poorer in-hospital outcomes and greater resource use.
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Labio Leporino , Fisura del Paladar , Hospitalización , Infecciones del Sistema Respiratorio , Humanos , Labio Leporino/epidemiología , Labio Leporino/complicaciones , Fisura del Paladar/epidemiología , Fisura del Paladar/complicaciones , Masculino , Femenino , Hospitalización/estadística & datos numéricos , Recién Nacido , Lactante , Infecciones del Sistema Respiratorio/epidemiología , Suiza/epidemiología , Estudios de Cohortes , Mortalidad Hospitalaria , PreescolarRESUMEN
To comparatively assess the periodontal condition and oral hygiene of children and adolescents at different ages presenting with different types of orofacial clefts (OFCs). A total of 1608 patients aged 6-18 years who had not previously undergone periodontal treatment were enrolled in this study. Participants were categorized into two age groups: 6-12 years (Group I) and 13-18 years (Group II). Participants in both age groups were further classified into one of the three OFC-type subgroups: cleft lip only (without or with alveolar cleft), cleft lip and cleft palate, and cleft palate only. Periodontal health was determined by evaluating plaque formation and gingival status with reference to the Silness and Loe plaque index (PI), Loe gingival index (GI), and community periodontal index (CPI). Periodontal health and oral hygiene were not significantly different between Groups I and II for cleft type (p > 0.05). A significant difference was not observed in PI for cleft type among the groups (p > 0.05). In Group II, GI and CPI were significantly higher than in Group I (p < 0.05). According to our results, cleft type does not influence periodontal health of children and adolescents with OFCs. Age, however, influences periodontal diseases' prevalence and severity.
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Labio Leporino , Fisura del Paladar , Índice de Placa Dental , Higiene Bucal , Enfermedades Periodontales , Índice Periodontal , Humanos , Labio Leporino/complicaciones , Fisura del Paladar/complicaciones , Adolescente , Niño , Masculino , China/epidemiología , Femenino , Factores de Edad , Placa DentalAsunto(s)
Labio Leporino , Fisura del Paladar , Selección de Paciente , Labio Leporino/cirugía , Humanos , Fisura del Paladar/cirugía , Femenino , Masculino , LactanteRESUMEN
BACKGROUND: Orofacial clefts are one of the most common congenital malformations of the fetal face and ultrasound is mainly responsible for its diagnosis. It is difficult to view the fetal palate, so there is currently no unified standard for fetal palate screening, and the diagnosis of cleft palate is not included in the relevant prenatal ultrasound screening guidelines. Many prenatal diagnoses for cleft palate are missed due to the lack of effective screening methods. Therefore, it is imperative to increase the display rate of the fetal palate, which would improve the detection rate and diagnostic accuracy for cleft palate. We aim to introduce a fetal palate screening software based on the "sequential sector scan though the oral fissure", an effective method for fetal palate screening which was verified by our follow up results and three-dimensional ultrasound and to evaluate its feasibility and clinical practicability. METHODS: A software was designed and programmed based on "sequential sector scan through the oral fissure" and three-dimensional ultrasound. The three-dimensional ultrasound volume data of the fetal face were imported into the software. Then, the median sagittal plane was taken as the reference interface, the anterior upper margin of the mandibular alveolar bone was selected as the fulcrum, the interval angles, and the number of layers of the sector scan were set, after which the automatic scan was performed. Thus, the sector scan sequential planes of the mandibular alveolar bone, pharynx, soft palate, hard palate, and maxillary alveolar bone were obtained in sequence to display and evaluate the palate. In addition, the feasibility and accuracy of the software in fetal palate displaying and screening was evaluated by actual clinical cases. RESULTS: Full views of the normal fetal palates and the defective parts of the cleft palates were displayed, and relatively clear sequential tomographic images and continuous dynamic videos were formed after the three-dimensional volume data of 10 normal fetal palates and 10 cleft palates were imported into the software. CONCLUSIONS: The software can display fetal palates more directly which might allow for a new method of fetal palate screening and cleft palate diagnosis.
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Fisura del Paladar , Imagenología Tridimensional , Programas Informáticos , Ultrasonografía Prenatal , Humanos , Ultrasonografía Prenatal/métodos , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/embriología , Imagenología Tridimensional/métodos , Embarazo , Femenino , Hueso Paladar/diagnóstico por imagen , Hueso Paladar/embriología , Adulto , Estudios de FactibilidadRESUMEN
BACKGROUND: Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome mainly affects ectodermal and mesodermal tissues. It is usually manifested as split hands and feet, ectodermal dysplasia, and orofacial clefting, along with other signs and symptoms. A multidisciplinary approach to treatment is required, in which dentists play an important role in identifying and treating various oral conditions that may be genetically linked to or may be the result of EEC syndrome. CASE PRESENTATION: The present case describes the oral condition of a young child suffering from EEC syndrome and presenting with peripheral giant cell granuloma (PGCG) in the mandibular anterior region. After obtaining a thorough medical and family history and a clinical examination, the lesion was surgically excised under local anesthesia. The patient was followed up at periodic intervals for the next twenty four months, during which no recurrence of the lesion was observed. CONCLUSION: This report highlights the role of a dentist in the management of the oral conditions of patients suffering from EEC syndrome.
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Labio Leporino , Fisura del Paladar , Displasia Ectodérmica , Granuloma de Células Gigantes , Humanos , Labio Leporino/cirugía , Labio Leporino/complicaciones , Labio Leporino/patología , Granuloma de Células Gigantes/patología , Granuloma de Células Gigantes/cirugía , Granuloma de Células Gigantes/diagnóstico por imagen , Fisura del Paladar/complicaciones , Fisura del Paladar/cirugía , Fisura del Paladar/patología , Displasia Ectodérmica/complicaciones , Displasia Ectodérmica/patología , Masculino , Femenino , PreescolarRESUMEN
BACKGROUND: Pattern of dental anomalies encountered in cleft patients shows subtle signs of genetic involvement. This study aimed to evaluate the prevalence and pattern of tooth agenesis and supernumerary teeth in Thai cleft population according to the cleft type. METHODS: Data collected from patients with cleft lip and palate, who had been treated at Tawanchai Cleft Center, Khon Kaen University, Thailand, available during year 2012-2022, were investigated. Records from 194 patients with non-syndromic clefts met the inclusion criteria. Standard dental records, and at least either orthopantomogram (OPG) or cone beam computed tomography (CBCT), were examined. Statistical analysis was performed using chi-square and binominal test (p ≤ 0.05). RESULTS: Prevalence of tooth agenesis was higher (77.3%) than that of supernumerary teeth (5.7%) and was more common in bilateral cleft lip and palate (BCLP) (88.1%) than in unilateral cleft lip and palate (UCLP) (72.6%) (p = 0.017). The upper lateral incisor was more frequently affected (46.4%), followed by the upper second premolar. The number of missing teeth observed on the left side was significantly higher. Patients with left UCLP (ULCLP) had the highest prevalence of tooth agenesis. A total of 41 tooth agenesis code (TAC) patterns was found. The prevalence of supernumerary teeth was comparable with 6.6% of ULCLP, 5.1% of BCLP, and 4.5% of URCLP. Tooth-number anomalies were observed more often in the BCLP and were most likely to occur on the left side of the maxilla. Both types of anomalies could be featured in a small proportion of cleft patients. CONCLUSIONS: More than half of the patients with non-syndromic cleft lip and palate in this study, presented with tooth-number anomalies. Tooth agenesis was approximately 10-time more prevalent than supernumerary teeth. Tooth agenesis was likely to appear on the left-side of the maxilla regardless of the laterality of the cleft.
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Anodoncia , Labio Leporino , Fisura del Paladar , Tomografía Computarizada de Haz Cónico , Diente Supernumerario , Humanos , Labio Leporino/epidemiología , Fisura del Paladar/epidemiología , Diente Supernumerario/epidemiología , Diente Supernumerario/diagnóstico por imagen , Tailandia/epidemiología , Prevalencia , Masculino , Femenino , Anodoncia/epidemiología , Anodoncia/diagnóstico por imagen , Adolescente , Niño , Radiografía Panorámica , Adulto Joven , Pueblos del Sudeste AsiáticoRESUMEN
BACKGROUND: Standardization of surgical protocols is an evolving issue owing to the low incidence of rare craniofacial clefts. In this article, we present our surgical management technique for repair of rare craniofacial clefts and evaluate the postoperative results. METHODS: This study was conducted from 2013 to 2022 and included patients who presented with craniofacial clefts. The results were assessed based on parents' satisfaction and objective evaluations by two independent observers. RESULTS: A total of 3679 patients presented with cleft anomalies; of these, 61 patients with 89 rare craniofacial clefts were observed with a prevalence of 2.42/100. The male to female ratio was 1:1.35. Craniofacial cleft "4" and "5" were the most common, with 17 (19.1%) and 16 (17.98%) patients, respectively. Multiple craniofacial clefts were observed in 37.7% of the patients. Associated craniofacial anomalies were found in 39.34% of the patients. The parents of 71.6% of the patients were very satisfied with the results. Based on the scores of two independent observers, 70.27% of the patients showed good results. CONCLUSION: The rare nature of craniofacial clefts and involvement of various structures make the standardization of surgical procedures very challenging. Our experience with these clefts will help new surgeons both in didactics and in technical aspects of patient management. KEY POINTS: 1. We share our experience with rare craniofacial clefts. 2. Each cleft presents with its own unique reconstructive challenges. The literature describes many techniques for each type of cleft, all with multiple permutations. We present a simplified technique that has worked for us over the years for all Tessier clefts.
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Labio Leporino , Fisura del Paladar , Procedimientos de Cirugía Plástica , Humanos , Masculino , Femenino , Fisura del Paladar/cirugía , Procedimientos de Cirugía Plástica/métodos , Labio Leporino/cirugía , Preescolar , Lactante , Niño , Satisfacción del Paciente , Protocolos Clínicos , Adolescente , Resultado del Tratamiento , Anomalías Craneofaciales/cirugíaRESUMEN
PURPOSE: The purpose of this study was to examine the influence of socioeconomic deprivation on language and developmental outcomes in toddlers with cleft palate with or without cleft lip (CP ± L). Other factors known to influence language outcomes were also considered, including home language history, history of hearing problems, syndromic diagnoses, and sex. METHOD: A multicenter, cross-sectional study design was conducted. Data for 566 16-month-old toddlers with CP ± L were collected from 17 outpatient cleft palate clinics located throughout the United States. Outcome measures included the MacArthur-Bates Communicative Development Inventories, LENA Developmental Snapshot, age at first word as reported by the caregiver, and the Ages and Stages Questionnaires-Third Edition (ASQ-3). Multivariable linear or logistic regression was used to determine the influence of socioeconomic deprivation, as measured by the Area Deprivation Index, on language and developmental outcomes. RESULTS: Greater socioeconomic deprivation significantly predicted poorer language outcomes in toddlers with CP ± L, including receptive vocabulary words (p = .02), expressive vocabulary words (p = .02), and late-developing gestures (p = .02). Additionally, toddlers from less affluent neighborhoods produced their first words significantly later than their counterparts living in more affluent areas (p < .01). Lower maternal education levels predicted significantly increased risk for problem solving delays (p < .01), and patients with subsidized insurance were at significantly increased risk for personal-social delays on the ASQ-3 (p < .01). CONCLUSIONS: Children with CP ± L are susceptible to developmental delays associated with socioeconomic deprivation. These findings have implications for identifying a child's individual risk factors for developmental language disorders when conducting speech-language assessments. Future study should examine how inequities in care can be mitigated and addressed.
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Fisura del Paladar , Trastornos del Desarrollo del Lenguaje , Humanos , Masculino , Femenino , Fisura del Paladar/psicología , Fisura del Paladar/complicaciones , Estudios Transversales , Lactante , Trastornos del Desarrollo del Lenguaje/etiología , Trastornos del Desarrollo del Lenguaje/psicología , Factores Socioeconómicos , Estados Unidos , Lenguaje Infantil , Desarrollo del Lenguaje , Vocabulario , Labio Leporino/psicologíaRESUMEN
Conventional gingivoperiosteoplasty (GPP) performed during infancy adversely affects maxillary development. However, the outcomes of this procedure in early childhood have rarely been reported. Therefore, we examined the postoperative outcomes of GPP conducted in patients aged 1.5 years with unilateral cleft lip and palate (UCLP). This study included 87 non-syndromic patients with complete UCLP who had undergone early two-stage palatoplasty during the 1999-2004 period. The protocol comprised soft palate plasty at 1 year of age and hard palate closure at 1.5 years of age. In the GPP group (n = 34), we introduced the GPP procedure during hard palate closure; in the non-GPP group (n = 53), the labial side of the alveolar cleft remained intact. We examined computed tomography images taken at 8 years of age to observe bone formation at the alveolar cleft site. We also conducted cephalometric analysis to examine maxillary development at 12 years of age. Bone bridges at the alveolar cleft site were observed in 92% and 5.6% of the GPP and non-GPP groups, respectively. Moreover, 56% of the GPP group did not require secondary alveolar bone grafting (sABG), whereas all the patients in the non-GPP group underwent sABG. No statistically significant differences were noted in the maxillary anteroposterior length (GPP: 45.5 ± 3.7 mm, non-GPP: 45.9 ± 3.5 mm, p = 0.67) and sella-nasion-point A angle (GPP: 75.6 ± 4.5°, non-GPP: 73.8 ± 12.6°, p = 0.49). This study's findings suggest that GPP performed at 1.5 years of age minimises the necessity of sABG and does not exert a negative influence on maxillofacial development.
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Labio Leporino , Fisura del Paladar , Gingivoplastia , Humanos , Fisura del Paladar/cirugía , Labio Leporino/cirugía , Masculino , Femenino , Lactante , Resultado del Tratamiento , Gingivoplastia/métodos , Niño , Periostio/cirugía , Cefalometría , Procedimientos de Cirugía Plástica/métodos , Tomografía Computarizada por Rayos X , Preescolar , Maxilar/cirugía , Maxilar/diagnóstico por imagen , Estudios RetrospectivosRESUMEN
BACKGROUND: Cleft lip and palate are congenital craniofacial anomalies that significantly impact individuals and their families, both medically and psychosocially. The Qatari population has unique characteristics that are suggestive of a high prevalence of congenital anomalies: high consanguinity rate, large family size, advanced paternal age and high prevalence of certain genetic disorders. The lack of existing data concerning the epidemiology of cleft lip and/or palate in Qatar warrants a descriptive study addressing this topic. METHODS: A retrospective nationwide hospital-based cross-sectional study conducted to determine the prevalence of orofacial clefts in Qatar from 2016 to 2021. Data were extracted from the corporation's Cerner database and electronic health records. Information concerning the cleft's characteristics, type, affected side, patient's gender, presence of associated syndromes, nationality, and maternal age were collected. RESULTS: Out of the 147,727 live births, 148 had an orofacial cleft. The prevalence of cleft lip and/or palate was determined to be 1 per 1000 livebirths (95% CI: 0.85, 1.18). The prevalence of cleft lip was 0.18 (95% CI: 0.12, 0.27), cleft palate 0.39 (95% CI: 0.30, 0.51), and cleft lip and palate 0.43 (95% CI: 0.33, 0.55). Qataris had a prevalence of CL 0.25, CP 0.40, and CLP 0.56, compared to 0.16, 0.39, 0.39 for non-Qataris (p-value 0.186). Unilateral clefts predominated over bilateral (74.4% and 25.6%, respectively). Among the unilateral cases, 70.2% occurred on the left side. Most cases were isolated clefts, with only 10.2% having associated syndromes. CONCLUSIONS: The prevalence of orofacial clefts in Qatar is consistent with the globally reported prevalence. Most cases were unilateral and on the left side. Associated syndromes were infrequent and more common with cleft palate alone. Intriguing patterns were revealed between Qatari nationals and non-Qatari residents, with specific subtypes of orofacial clefts showing higher prevalence among nationals.
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Labio Leporino , Fisura del Paladar , Humanos , Qatar/epidemiología , Labio Leporino/epidemiología , Fisura del Paladar/epidemiología , Estudios Transversales , Prevalencia , Masculino , Femenino , Estudios Retrospectivos , Recién Nacido , AdultoRESUMEN
Orofacial cleft (OFC) is a common human congenital anomaly. Epithelial-specific RNA splicing regulators ESRP1 and ESRP2 regulate craniofacial morphogenesis and their disruption result in OFC in zebrafish, mouse and humans. Using esrp1/2 mutant zebrafish and murine Py2T cell line models, we functionally tested the pathogenicity of human ESRP1/2 gene variants. We found that many variants predicted by in silico methods to be pathogenic were functionally benign. Esrp1 also regulates the alternative splicing of Ctnnd1 and these genes are co-expressed in the embryonic and oral epithelium. In fact, over-expression of ctnnd1 is sufficient to rescue morphogenesis of epithelial-derived structures in esrp1/2 zebrafish mutants. Additionally, we identified 13 CTNND1 variants from genome sequencing of OFC cohorts, confirming CTNND1 as a key gene in human OFC. This work highlights the importance of functional assessment of human gene variants and demonstrates the critical requirement of Esrp-Ctnnd1 acting in the embryonic epithelium to regulate palatogenesis.