ObjectiveTo evaluate the impact of implementation of a cleft nurse navigator (CNN) program on failure to thrive (FTT), readmission rates, and disparities among patients with cleft lip and/or palate (CL/P).DesignRetrospective cohort study comparing outcomes before and after CNN implementation.SettingTertiary pediatric craniofacial center with a multidisciplinary cleft care team.Patients, ParticipantsPatients with CL/P undergoing definitive cleft repair at a single institution from January 2010 to June 2024 (n = 992).InterventionsImplementation of a CNN program in 2016 focused on feeding support, care coordination, growth monitoring, and family outreach.Main Outcome Measure(s)Primary outcomes included rates of FTT, admission for FTT, and readmission for FTT. Secondary analyses evaluated racial and insurance-based disparities.ResultsOf 992 patients, 433 (43.6%) were pre-CNN and 559 (56.4%) post-CNN. FTT rates were similar (18.2% vs 16.8%, P = .556). Readmission for FTT was lower post-CNN (1.1% vs 4.6%, P < .001). Pre-CNN, readmission was higher among non-white than white patients (9.1% vs 2.4%, P = .002), equalizing post-CNN (1.4% vs 1.0%, P = .621). Insurance-based differences in readmission also decreased post-CNN. On multivariable regression, pre-CNN treatment (OR 5.0, 95% CI 1.9-13.1, P = .001), neonatal intensive care unit stay (OR 14.5, 4.2-50.1, P < .001), public insurance (OR 2.7, 1.1-6.6, P = .027), and non-white race (OR 2.5, 1.0-5.9, P = .044) independently predicted readmission.ConclusionsCNN implementation was associated with reduced readmissions for FTT and reduced racial and insurance-based disparities in readmission among patients with CL/P.
ObjectiveTo evaluate surgeons' knowledge, attitudes, and self-reported practices regarding prophylactic oral antibiotic use following cleft lip repair.DesignDescriptive cross-sectional survey study.SettingCleft workshop, November 2025.ParticipantsSurgeon attendees.InterventionsA 19-item survey assessing demographics, knowledge, attitudes, and practices related to prophylactic antibiotic use.Main Outcome MeasuresSurgeons' knowledge, attitudes, and perceptions regarding post-operative antibiotics, and self-reported prescribing practices after cleft lip repair.ResultsA total of 108 surgeons from multiple countries and resource settings participated. Most agreed that prophylactic post-operative oral antibiotics reduce infection rates in any setting (42.5%) and low-resource settings (49.1%), while 41.6% disagreed that sufficient evidence supports their use in any setting. Most participants (67.6%) acknowledged that antibiotic overuse contributes to antimicrobial resistance. Among the 93 prescribers, decisions were primarily based on oral hygiene (82.8%), followed by location (47.3%) and family literacy (46.2%). Prevention of wound infection was the main reason for prescribing (92.5%). Practice resource level was significantly associated with prescribing behavior (Fischer's exact P = 0.001), whereas surgical specialty, years in practice, and annual cleft lip repair volume were not. The association remained significant in binary logistic regression (Wald χ2=10.496, df = 2, P = 0.005). Surgeons in medium-resource settings had greater odds of prescribing than those in high-resource settings (OR = 10.84, P = 0.001).ConclusionsThere is a disconnect between evidence and practice, with substantial variability in prescribing attitudes and behaviors. Further research and standardized guidelines are needed to promote judicious antibiotic use in cleft care.
ObjectiveTo describe the perspectives and experiences of urban Latin American families impacted by orofacial clefts, with particular attention to how families understand genetics, heredity, and genetic testing.DesignQualitative investigation using thematic content analysis of semistructured interviews.SettingAn interdisciplinary orofacial cleft care program at a pediatric hospital in Medellín, Colombia, providing long-term, family-centered cleft care.Patients, ParticipantsAdult parents/caregivers representing 20 families (N = 20) with at least 1 child receiving care for nonsyndromic cleft lip with or without cleft palate.InterventionsIn-person, semistructured interviews that were audio-recorded with oral informed consent.Main Outcome Measure(s)Interview domains included demographic characteristics, explanatory models of cleft conditions, perspectives related to genetics, and attitudes toward genetic testing.ResultsFamilies commonly identified multiple perceived causes of cleft formation, including maternal exposures, heredity/genetics, and divine intervention. Eighteen families (90%) described family relationships as their primary framework for understanding genetics. Fourteen families (70%) expressed fears related to heredity, frequently influencing family planning decisions. Only 5 families (25%) had accessed genetic testing or counseling, yet all families expressed interest in genetic testing if it were available.ConclusionsFamilies integrated biomedical, environmental, and spiritual explanations into their understanding of cleft conditions. Genomic literacy and fears about heredity shaped family communication and reproductive decision making. Interdisciplinary, family-centered cleft care fostered trust and positioned clinical teams as key mediators of genetic information, underscoring the influence of clinical communication on how families interpret genetic risk and approach future family planning.
Aims: Determine the prevalence of cleft lip and/or palate in patients treated in the maternal and child health care program from 2018 to 2024. Design and Setting: Observational, descriptive, and cross-sectional study. Patients: A review of medical records was carried out, consisting of 559 patients, which allowed quantifying the types of malformations. Results: They demonstrate an increasing number of patients treated over the years; it is not possible to know if this reflects an increase in births of children with malformations or the effect of access to timely and public care. Conclusions: The results highlight higher prevalence in vulnerable populations for different causes, multifactorial nature of the etiology, and the need to maintain an early detection program to reduce the burden derived from the malformation.
ObjectiveTo identify feasible and high-priority actions to improve the equitable provision of care for individuals with cleft lip and/or palate (CL/P) across Europe.DesignParticipatory mixed-methods study using group concept mapping.SettingEuropean cleft and craniofacial care systems.Patients and ParticipantsSixty-five stakeholders from 29 countries, including healthcare professionals, researchers, teachers and representatives from patient organisations involved in CL/P care.InterventionsParticipants generated, sorted and rated statements in response to a structured focus prompt addressing equity in CL/P care, with ratings of importance and ease of implementation.Main Outcome Measure(s)Conceptual clusters of actions to improve equity in CL/P care and prioritisation of actions based on importance and feasibility.ResultsA total of 111 statements were analysed using multi-dimensional scaling and hierarchical cluster analysis, resulting in 6 conceptual clusters: person-centred care; healthcare professional training, awareness and knowledge; resources and availability; inclusiveness and support strategies; European standardisation and governmental health policies. These clusters aligned with micro-, meso- and macro-level domains. Go-Zone analysis identified 31 actions rated as both highly important and feasible, alongside 28 actions rated as highly important but difficult to implement, reflecting longer-term structural and policy challenges.ConclusionsThis study provides an empirically grounded, multi-level roadmap for advancing equitable and high-quality CL/P care across Europe. While immediate improvements can be achieved through targeted clinical and organisational actions, sustained progress requires coordinated policy and governance reform. The identified principles may provide insights for cleft care service providers beyond Europe who face similar systemic challenges.
ObjectiveTo evaluate the 3-dimensional (3D) geometric characteristics of mixed-dentition intraoral models and identify morphological features associated with later inclusion of orthognathic surgery (OGS), rather than camouflage treatment alone (non-OGS/NOGS), as a treatment option in patients with cleft lip and/or palate (CL/P).DesignRetrospective cohort study.SettingInstitutional study.ParticipantsA total of 320 patients with unilateral or bilateral CL/P who received first-phase orthodontic treatment at ages 5 to 7 years (T1) and continued treatment until age 15 (T2).Main Outcome MeasuresIntraoral models obtained at T1 were digitized with a 3D scanner. Dentition and palatal morphology were quantified using a high-resolution template-based geometric morphometric method based on dense corresponding surface vertices and summarized as principal components (PCs). Logistic regression models incorporating PCs and clinical variables (number of alveolar clefts, palatal repair method, sex, and number of missing teeth) were used to predict whether OGS was included as a treatment option at T2. Surface-based group differences were assessed using 2-sample t-tests (P < .05).ResultsSignificant morphological differences between OGS and NOGS groups were identified in both maxillary and mandibular dental arches at T1. Features associated with OGS inclusion were a narrow maxillary arch, a shallow palate, Class III dentoalveolar relationships, a steep occlusal plane, and lingual tooth displacement. The predictive model demonstrated good discriminative performance, with an area under the receiver operating characteristic curve of 0.82.Conclusions3D mixed-dentition intraoral models at T1 captured dentition and palate features predictive of later consideration of OGS during treatment planning in patients with CL/P.
ObjectiveMetopic synostosis (MS) is commonly corrected using multi-segment fronto-orbital advancement (FOA), including the frontal bone and supraorbital bandeau. Although this technique reliably expands the anterior vault, it is associated with contour irregularities and bandeau step-offs. The single-segment FOA, utilizing a unified parietal bone flap, was developed with the goal of restoring a seamless frontal contour. This study compares morphologic outcomes between single-segment and multi-segment FOA in MS.DesignA retrospective review of 3-dimensional imaging of patients with MS who underwent single-segment or multi-segment FOA.SettingTertiary pediatric institution.Patients, ParticipantsTwenty patients with MS were included (10 single-segment, 10 multi-segment). Ten control patients were included at each time point for comparison.InterventionsSingle-segment or multi-segment FOAMain Outcome Measure(s)Pre- and 2-week, 1-year, and 2-year postoperative imaging were analyzed to assess craniometric variables and intracranial volumes. Craniofacial composites were created.ResultsSingle-segment FOA demonstrated significantly shorter operative time (P = 0.003) and reduced blood loss (P = 0.008). Both groups achieved comparable increases in total (13-15%) and anterior cranial volume (23-28%) postoperatively. Craniometric analysis revealed equivalent improvement in orbital morphology. The interfrontal angle normalized to control levels in the single-segment group but remained significantly different in the multi-segment cohort through 2 years.ConclusionsSingle-segment FOA provides cranial and orbital morphologic correction equivalent to multi-segment FOA while reducing perioperative burden and limiting osteotomies across the frontal contour. This technique offers an efficient and reliable alternative for appropriately selected patients with MS.
Crouzon syndrome (CS) is a syndromic craniosynostosis most often caused by heterozygous activating variants in fibroblast growth factor receptor 2, leading to premature fusion of cranial sutures and progressive craniofacial dysmorphology. Premature suture fusion alters cranial growth patterns and modifies cranial base anatomy, increasing the risk of raised intracranial pressure, ventriculomegaly or hydrocephalus, and hindbrain crowding; shallow orbits cause ocular proptosis with exposure keratopathy, strabismus and amblyopia; midface (maxillary) hypoplasia results in class III malocclusion and nasopharyngeal narrowing, contributing to sleep-disordered breathing; and middle ear disease and external canal stenosis contribute to conductive or mixed hearing loss. This narrative review aims to highlight clinical features and treatment for patients with CS. This narrative review was formulated by critically evaluating and synthesising a range of existing literature, particularly focusing on review articles published between 2007 and 2026. Diagnosis is based on clinical and radiological assessment, confirmed by molecular testing. Management is staged and multidisciplinary: cranial vault expansion - posterior and/or fronto-orbital - is usually performed in late infancy to protect the brain and vision; midface advancement during later childhood or adolescence addresses ocular exposure, airway obstruction and malocclusion; ongoing ophthalmological, audiological, orthodontic and sleep-medicine management aims to reduce functional impairment. A rarer variant, CS with acanthosis nigricans, results from pathogenic variants in fibroblast growth factor receptor 3 and is characterised by distinctive skin findings and a higher risk of choanal anomalies. With timely diagnosis, structured surveillance and coordinated reconstruction within specialist craniofacial centres, long-term functional outcomes and life expectancy are generally positive.
ObjectiveTo evaluate mandibular lingula structure and location in children and adolescents with cleft lip and/or cleft palate (CL/P) compared with age- and sex-matched controls using cone-beam computed tomography (CBCT).DesignRetrospective cross-sectional study.SettingUniversity-based dentomaxillofacial radiology archive.Patients/ParticipantsCBCT scans of 120 patients aged 8-18 years (60 CLP, 60 controls; mean age 13.15 ± 3.02 years) were included in the study.InterventionsRetrospective evaluation of existing CBCT images.Main Outcome MeasuresLinear distances from the lingula to key anatomical landmarks, including the anterior (x) and posterior (y) ramus borders, inferior ramus border (w), sigmoid notch (z), mandibular foramen (h1), and occlusal plane at the mesial aspect of the first permanent molar (t), along with the anteroposterior ratio [x/(x + y)] and lingula shape, assessed bilaterally with consideration of the cleft side.ResultsSignificant differences were observed between groups in several linear measurements, including x, y, z, and t, with reduced distances in the CL/P group. However, no significant differences were found for h1 or the x/(x + y) ratio, indicating preservation of the relative anteroposterior position of the lingula. The assimilated form was the most common lingula shape in both groups, with no significant between-group difference. Although some side-based variations were detected, these were inconsistent and not specific to CL/P.ConclusionsDespite differences in certain linear dimensions, the relative position and morphology of the lingula are preserved in children and adolescents with CL/P. This structural consistency may support CBCT-based individualized planning for surgical and anesthetic procedures.
PurposeChildren with cleft conditions are at increased risk of language and speech disorders. Velopharyngeal dysfunction is a common sequela of palate repair, and children may develop cleft-type speech characteristics, with consequences in the academic, social, and ultimately employment, domains. Infants with certain speech behaviors are more likely to present with increased intelligibility at school age. These behaviors could be embedded into general language development strategies and taught to infants by their caregivers. This paper describes a study protocol investigating the effects of early language intervention strategies, as part of a caregiver-coached, group-based intervention in infants with cleft palate. The goal will be measured by changes in comprehension and expression, as well as the ratio of word to gesture use, attempts at oral plosive sounds, number of phonemes, and frequency and shape of babbling.MethodsWe will recruit up to 40 infants with cleft palate, plus their caregivers. Infants should be aged between 6 and 15 months. Families will attend a total of 12 sessions over 6 weeks and will complete demographic and communication-based questionnaires. Caregiver confidence will also be measured.ResultsWe hypothesize that, in addition to increasing the number of words or concepts that the infant can comprehend and express, there will be an increase in the specific speech behaviors that will be targeted in this intervention.ConclusionIf the study hypotheses are confirmed, these findings will provide support to better equip families with strategies to support speech and language development in the first 15 months of life.
ObjectiveTo explore the psychological, family-related, interpersonal, and treatment-related experiences of individuals with cleft lip and/or palate (CL/P) across developmental stages using a large-sample qualitative approach.DesignQualitative study using semi-structured interviews and thematic analysis with an iterative coding process.SettingParticipants were recruited in a clinical care context involving individuals receiving or having received cleft-related care.ParticipantsA total of 172 participants aged 8-26 years with a diagnosis of CL/P were included. Consecutive sampling was used to capture heterogeneity in age, treatment experience, and social background.ResultsFour interrelated themes were identified: mental functioning and body image, family dynamics, interpersonal functioning, and treatment experiences. Some participants reported little psychological impact, often normalizing their condition or emphasizing coping strategies. Most described persistent self-consciousness, social withdrawal, or reduced self-worth. In addition to the commonly reported themes of communication and emotional support, some participants (n = 11) reported delayed disclosure of their diagnosis by parents, which was experienced as confusing or emotionally unsettling. Peer teasing and misunderstanding by teachers were frequently reported, particularly during adolescence, intensifying concerns about appearance and speech. Treatment-related distress was more commonly associated with uncertainty and perceived dismissiveness in healthcare communication than with procedures themselves.ConclusionsPsychosocial adjustment in CL/P is shaped by the dynamic interplay of developmental context, family communication, social environments, and clinician-patient interactions. Findings highlight the importance of age-sensitive psychosocial support, open and ongoing family communication, and emotionally responsive healthcare communication to improve patient-centered cleft care.
ObjectiveTo report the arch relationship in patients with complete unilateral cleft lip and palate operated by the same surgeon, using the same protocol of cheiloplasty combined with vomerine flap to close the anterior palate, followed by palatoplasty with intra-velar veloplasty.DesignRetrospective cohort study.SettingTertiary Cleft Centre.Patients, ParticipantsConsecutive patients born between 2004 and 2015.InterventionsPrimary and secondary surgery.Main Outcome MeasuresThe primary outcome measure was the Five Year Old (5YO) index score by external specialist orthodontists. The index is a five-point scale and considers Groups 1 and 2 as demonstrating 'good' maxillary growth; Group 3 as 'fair' and Groups 4 and 5 as 'poor'.ResultsNinety-six patients met the inclusion criteria and 81 (84%) were successfully reviewed. The results were: Group 1, 9 patients (11.1%); Group 2, 38 (46.9%); Group 3, 23 (28.4%); Group 4, 10 (12.3%); and Group 5, 1 (1.2%). Hence 58% had good growth, 29.4% fair and 13.5% poor. The median age at review was 5.2 years (5.0-6.3).Patients with a soft tissue band had marginally better growth scores but this was not significant (p = .19). At palatoplasty 47.5% did not require lateral releasing incisions.ConclusionsThe protocol used has favourable maxillary growth outcomes at age five and compares well with other published data. The vomerine flap possibly reduces the cleft width which could explain why only just over half the patients needed lateral releasing incisions at palatoplasty.
ObjectiveA scoping review of the literature to map the evidence for timing the extraction of erupted cleft-adjacent teeth, either in advance or during secondary alveolar bone grafting, and associated outcomes.DesignScoping review with a systematic search of Medline and Cochrane databases from inception to January 2026.Patients/ParticipantsHumans born with an alveolar cleft undergoing secondary alveolar bone graft during mixed dentition.Main Outcome MeasureThe determination of graft success or the presence of post-operative complications following the alveolar bone graft procedure.ResultsTwo studies met the inclusion criteria and were included in the primary review. Both studies reported that timing the extraction of cleft-adjacent teeth in advance of the bone graft was associated with advantageous outcomes in univariate analyses, yet this advantage was not maintained when a multivariate analysis was performed by 1 study. A further 6 studies were included in a secondary review, whereby the presence of intra-operative cleft-adjacent dental extractions was compared to an absence of dental extraction, with inconsistent associations reported between the occurrence of dental extraction and bone graft failure.ConclusionsThe evidence base is currently extremely limited. Available data would not support the timing of extracting cleft-adjacent teeth as being a major determinant of secondary alveolar bone graft success. Clinical decisions regarding timing of extraction of erupted cleft-adjacent teeth should consider dental, patient, safety and resource influences.
ObjectiveTo assess the association and interaction between MTR rs1805087 and MTRR rs1801394 polymorphisms and nonsyndromic cleft lip with or without cleft palate (NSCL ± P) in a Chilean population.DesignA retrospective case-control study.MethodsRs1805087 and rs1801394 genotypes were extracted from an array for 248 cases and 479 controls. Association analysis was performed by logistic regression for additive, dominant and recessive models and gene-gene interaction was evaluated by a Multifactor Dimensionality Reduction algorithm.ResultsNo association was detected for MTR rs1805087 (p = .870) or MTRR rs1801394 (p = .919) and NSCL/P or for their interaction (p = .197).ConclusionOur findings in Chile may be explained by no effect of these markers on NSCL ± P risk, as was described in other populations. However, we must be cautious with this conclusion due to the low statistical power for association (<10%). Thus, replication studies may include higher sample sizes. In addition, other genes or variants for the methionine cycle as well as the interaction with environmental factors must be considered in future studies.
ObjectiveSense of coherence (SOC) refers to an individual's psychological orientation that allows for successful stress management. This study aimed to determine the relationship between experience of stigmatization and SOC of caregivers of children with cleft lip and/or palate (CL/P).DesignCross-sectional.SettingA tertiary hospital in Nigeria.Patients/ParticipantsCaregivers of children with CL/P managed from January 2023 to December 2024.Outcome MeasuresCaregivers' stigmatization against their child with CL/P, their experience of societal stigmatization, and their SOC.ResultsA total of 158 caregivers, all mothers, participated in this study. Their age ranged from 17 to 44 years, with a median age of 30 years. The age range of participants' children was 1 to 23 weeks, and their median age was 5 weeks. Twenty-two (13.9%) mothers felt shame when their child was born, and 18 (11.4%) wished their child was never born. The majority (81.0%) of participants had low experience of societal stigmatization. For SOC, the minimum score recorded was 26, the maximum was 65, and the mean was 44.9 ± 8.94. Caregiver stigmatization against children with CL/P was more commonly seen among those with low SOC, while most mothers with high SOC exhibited positive reactions toward their child (P < .05). Similarly, the majority of caregivers with low experience of societal stigmatization had high SOC, while caregivers with high experience of societal stigmatization had low SOC (P < .05).ConclusionLow experience of stigmatization was significantly associated with high SOC and vice versa. This study suggests that SOC may be dampened by stigmatization, which can have harmful consequences in cleft management.
Secondary narrow nostril deformity after unilateral cleft lip repair remains a stubborn clinical challenge, with an incidence of approximately 84%. It compromises both nasal airway function and facial esthetics. The etiology is multifactorial, involving congenital tissue deficiencies, abnormal orbicularis oris insertion, and iatrogenic deformities resulting from primary repair. Current reconstructive approaches can be broadly categorized into tissue augmentation, structural reinforcement, and contour-modifying strategies, with postoperative nasal retainers serving as a key adjunct device. Although studies have suggested benefits in improving nasal symmetry and airway patency, variability in surgical indications and outcomes has hindered the establishment of a unified consensus. The authors provide an overview of current surgical strategies and postoperative management for secondary narrow nostril deformity, aiming to support more precise treatment planning and improved surgical results.
ObjectiveTo characterize the prevalence, spectrum, and healthcare burden of endocrine disorders across distinct orofacial cleft (OFC) phenotypes and to evaluate the impact of endocrine comorbidity on healthcare utilization and hospital outcomes.DesignRetrospective cross-sectional analysis of nationally representative inpatient data.SettingUnited States hospitals included in the Kids' Inpatient Database (KID) for 2016, 2019, and 2022.ParticipantsPediatric hospitalizations identified in the KID. Admissions involving isolated cleft were identified using ICD-10-CM codes and stratified by syndromic status.InterventionsNone.Main Outcome MeasuresThe primary outcome was the presence of endocrine disorders (including hypothalamic, pituitary, thyroid, parathyroid, adrenal, metabolic, nutritional, and growth abnormalities). Secondary outcomes included length of stay (LOS), total hospital charges, and in-hospital mortality.ResultsA total of 41 771 OFC hospitalizations were identified (5006: cleft Lip-CL, 18 109: cleft palate-CP, and 18 536: cleft lip and palate). Endocrine disorders were more common among children with OFCs than among noncleft controls (8.3% vs 6.0%, p < .001). Disease burden varied significantly across cleft phenotypes, with CP conferring the highest odds of any endocrine disorder (adjusted odds ratio: 2.68, p < .001). Hypothalamic-pituitary disorders showed strong associations with all cleft phenotypes (all p < .001). Most associations persisted among patients without recognized syndromic diagnoses. Among children with OFCs, endocrine comorbidity was independently associated with a 131% increase in LOS, a 116% increase in total charges, and a 43% increase in in-hospital mortality (all p ≤ .003).ConclusionsDespite substantial heterogeneity across cleft types, endocrine dysfunction may be a clinically significant but underrecognized comorbidity in children with OFCs and is associated with increased healthcare utilization, even among nonsyndromic patients.
ObjectiveTo compare three-dimensional volumetric asymmetry of the mastoid air cell system and bony eustachian tube between patients with unilateral cleft lip and palate (UCLP) and unilateral cleft lip and alveolus (UCLA).DesignRetrospective, exploratory cross-sectional study.SettingA single tertiary referral center in Japan.Patients/ParticipantsForty-one Japanese patients with preoperative computed tomography imaging, including 22 with UCLP and 19 with UCLA. Mastoid air cell volume was analyzable in 19 patients with UCLP and 15 with UCLA after excluding scans with mucosal thickening or opacification that precluded reliable air-space segmentation.InterventionsNone.Main Outcome Measure(s)Three-dimensional volumes of the bony eustachian tube and mastoid air cell system were measured bilaterally. Inter-side asymmetry was calculated as non-affected-side volume minus affected-side volume and compared between groups using Welch t tests.ResultsBony eustachian tube asymmetry did not differ significantly between the UCLP and UCLA groups (0.048 ± 0.076 vs 0.017 ± 0.050 cm3; P = .135). Mastoid air cell asymmetry was significantly greater in the UCLP group (1.371 ± 1.677 vs -0.171 ± 0.884 cm3; P = .002), with a large effect size (Cohen d = 1.11).ConclusionsPatients with UCLP exhibited greater mastoid air cell volumetric asymmetry than patients with UCLA, whereas bony eustachian tube asymmetry did not differ significantly. These findings represent computed tomography-based morphologic differences and should not be interpreted as direct evidence of functional middle ear impairment.
ObjectiveTo assess child- and parent-reported quality of life and functional outcomes in children managed as nonsyndromic Pierre Robin sequence (nsPRS), using child-reported and parent-reported outcome measures.DesignRetrospective observational cross-sectional study.SettingSingle tertiary craniofacial center.ParticipantsChildren aged 11-20 years followed for nsPRS between 2010 and 2021. Twelve child-parent dyads participated. A pre-specified sensitivity analysis was restricted to children meeting strict nsPRS criteria.Outcome Measure(s)Child-reported CLEFT-Q scores for feeding, speech, psychological well-being, and social function; parent-reported Pediatric Sleep Questionnaire (PSQ) scores and Behavioral Pediatrics Feeding Assessment Scale (BPFAS) child-behavior frequency scores calculated from the 24 available child-behavior frequency items.ResultsMean age was 13.5 ± 3.9 years. CLEFT-Q scores showed feeding as the best-preserved child-reported domain (86.3 ± 12.3), followed by social function (77.0 ± 15.0), psychological well-being (69.9 ± 18.3), and speech (66.6 ± 15.9). Suspected obstructive sleep apnea syndrome according to PSQ screening was identified in 1/12 patients (8.3%), although habitual snoring was reported in 5/12 (41.7%). Parent-reported feeding behavior was classified as problematic in 6/12 families (50.0%). Descriptive cross-instrument comparison showed that 4/12 children reported high CLEFT-Q feeding scores despite parent-reported BPFAS concerns. Findings were directionally similar in the strict nsPRS sensitivity subgroup.ConclusionIn our small cohort, child-reported quality of life at follow-up was globally satisfactory, with preserved feeding scores but lower speech scores. Parent-reported feeding concerns and residual sleep-related symptoms support follow-up that includes both child-reported and parent-reported outcomes, with particular attention to speech rehabilitation, feeding behavior, and sleep-related symptoms.
ObjectiveTo systematically characterize anatomical, histopathological and ultrastructural alterations of perioral and velopharyngeal muscles in patients with nonsyndromic cleft lip and/or palate (CL/P).DesignSystematic review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines.SettingSystematic literature search of PubMed, EMBASE, Scopus, CNKI, Cochrane Database of Systematic Reviews, and gray literature sources (ClinicalTrials.gov, International Clinical Trials Registry Platform, Conference Proceedings Citation Index-Science, ProQuest Dissertations and Theses, GreyNet International) from January 1980 to June 2025, supplemented by manual reference screening.PatientsPatients with nonsyndromic CL/P of any age, sex, or cleft severity. Comparator groups included individuals without CL/P or nonaffected contralateral sides.Interventions:Not applicable. This review synthesized observational evidence from cohort, case-control, and cross-sectional studies.Main Outcome(s)Morphological characteristics (imaging and cadaveric dissection), and histopathological features (light microscopy and histochemical staining) of cleft-affected perioral and velopharyngeal muscles.ResultsA total of 21 studies were included. Anatomical investigations consistently demonstrated ectopic muscle insertions, aberrant fiber orientation, and muscle hypoplasia in both the lip and velopharyngeal musculature. Histopathological analyses revealed fiber disorganization, increased myofiber diameter variability, extensive interstitial fibrosis, mitochondrial dysfunction, and, in some studies, a shift toward type II fiber predominance. But the ultrastructural findings are limited to a small number of studies with inconsistent results, yielding low confidence. Methodological heterogeneity and risk of bias precluded meta-analysis. Confidence in findings, assessed using CERQual, was high for anatomical outcomes and moderate for histopathological features.ConclusionsPerioral and velopharyngeal muscles in patients with CL/P exhibit distinct but incompletely characterized pathological alterations. Future research should clarify muscle-specific pathology, regenerative dynamics, and clinically relevant strategies that may improve long-term functional recovery after cleft repair.RegistrationPROSPERO CRD420251115465.
