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Among infants with isolated cleft palate, whether primary surgery at 6 months of age is more beneficial than surgery at 12 months of age with respect to speech outcomes, hearing outcomes, dentofacial development, and safety is unknown. We randomly assigned infants with nonsyndromic isolated cleft palate, in a 1:1 ratio, to undergo standardized primary surgery at 6 months of age (6-month group) or at 12 months of age (12-month group) for closure of the cleft. Standardized assessments of quality-checked video and audio recordings at 1, 3, and 5 years of age were performed independently by speech and language therapists who were unaware of the trial-group assignments. The primary outcome was velopharyngeal insufficiency at 5 years of age, defined as a velopharyngeal composite summary score of at least 4 (scores range from 0 to 6, with higher scores indicating greater severity). Secondary outcomes included speech development, postoperative complications, hearing sensitivity, dentofacial development, and growth. We randomly assigned 558 infants at 23 centers across Europe and South America to undergo surgery at 6 months of age (281 infants) or at 12 months of age (277 infants). Speech recordings from 235 infants (83.6%) in the 6-month group and 226 (81.6%) in the 12-month group were analyzable. Insufficient velopharyngeal function at 5 years of age was observed in 21 of 235 infants (8.9%) in the 6-month group as compared with 34 of 226 (15.0%) in the 12-month group (risk ratio, 0.59; 95% confidence interval, 0.36 to 0.99; P = 0.04). Postoperative complications were infrequent and similar in the 6-month and 12-month groups. Four serious adverse events were reported (three in the 6-month group and one in the 12-month group) and had resolved at follow-up. Medically fit infants who underwent primary surgery for isolated cleft palate in adequately resourced settings at 6 months of age were less likely to have velopharyngeal insufficiency at the age of 5 years than those who had surgery at 12 months of age. (Funded by the National Institute of Dental and Craniofacial Research; TOPS ClinicalTrials.gov number, NCT00993551.).

Cleft Lip and Palate (CLP) - a common facial malformation in newborns – is typically corrected by surgical intervention to allow for normal speech development, psychosocial adjustment, and facial attractiveness. The long term treatment outcome can be evaluated after a number of years, possibly in adulthood. We investigated the aesthetics of the nasolabial region by subjective ratings. To compare various surgical approaches we recruited 12 raters to evaluate 429 patients. Expert and lay raters judged photographs from patients, who have completed treatment with one of three different surgical strategies performed in our institution over 50 years. Facial photographs were cropped, presented to the raters in a randomized sequence, and judged by the raters on a 5 point Likert scale. The subjective ratings between the raters revealed a fair to substantial inter-rater reliability. The average ratings of the surgical outcome improved continuously over the investigated 5 decades. Despite possible differences between raters and rater groups this overall result was consistently seen in the gender groups (male/female), or expertise related groups (expert/lay). Our analysis revealed that patients with bilateral CLP scored worse than patients with unilateral CLP when treated in the fifties; more recently treated patients of both groups scored similarly.

The purpose of this pilot study was to investigate the extent to which a naturalistic communication intervention, enhanced milieu teaching with phonological emphasis (EMT+ PE), improved the language and speech outcomes of toddlers with cleft lip and/or palate (CL/P). Nineteen children between 15 and 36 months (M = 25 months) with nonsyndromic CL/P and typical cognitive development were randomly assigned to a treatment (EMT+PE) or nontreatment, business-as-usual (BAU), experimental condition. Participants in the treatment group received forty-eight 30-min sessions, biweekly during a 6-month period. Treatment was delivered in a university clinic by trained speech language pathologists; fidelity of treatment was high across participants. Children in the treatment group had significantly better receptive language scores and a larger percentage of consonants correct than children in the BAU group at the end of intervention. Children in the treatment group made greater gains than children in the BAU group on most language measures; however, only receptive language, expressive vocabulary (per parent report), and consonants correct were significant. The results of this preliminary study indicate that EMT+PE is a promising early intervention for young children with CL/P. Replication with a larger sample and long-term follow-up measures are needed.

Cleft lip and palate (CLP) is one of the most common congenital anomalies, affecting ~1 in 700 births worldwide. Patients with CLP often experience functional impairments due to the cleft palate, particularly related to feeding and speech. Surgical interventions are essential for addressing these issues, yet no standardized surgical procedure exists. Velar adhesion (VA) is a technique used to reduce the cleft width prior to a palatoplasty, potentially improving surgical outcomes, but its effectiveness remains unclear. The impact of VA on cleft-width reduction and the incidence of otitis media with effusion (OME) were evaluated in patients with unilateral cleft lip and palate (UCLP). The cases of 45 patients with UCLP who underwent a palatoplasty at the University of Tokyo Hospital between January 2013 and December 2023 were analyzed retrospectively. We divided the patients into two groups: those who underwent VA during lip repair (VA group) and those who did not (non-VA group). The cleft width and alveolar cleft width were measured at birth, lip repair, and palatoplasty. The presence of OME was assessed the day before the palatoplasty. Pearson's chi-square test and the two-tailed t-test were applied. Significant cleft-width reduction was observed in the VA group compared to the non-VA group at the time of palatoplasty (4.58 mm vs. 6.55 mm, p < 0.01). The incidence of OME was significantly lower in the VA group (60.00%) versus the non-VA group (90.91%, p < 0.01). No significant between-group differences were identified for the alveolar cleft width or maxillary growth. VA significantly reduces the cleft width at the junction of the hard and soft palates, and it may decrease the incidence of otitis media with effusion in patients with UCLP. VA is a straightforward procedure with potential benefits for improving palatoplasty outcomes and mitigating complications such as OME.

Craniofacial bone defect anomalies affect both soft and hard tissues and can be caused by trauma, bone recessions from tumors and cysts, or even from congenital disorders. On this note, cleft/lip palate is the most prevalent congenital craniofacial defect caused by disturbed embryonic development of soft and hard tissues around the oral cavity and face area, resulting in most cases, of severe limitations with chewing, swallowing, and talking as well as problems of insufficient space for teeth, proper breathing, and self-esteem problems as a consequence of facial appearance. Spectacular advances in regenerative medicine have arrived, giving new hope to patients that can benefit from new tissue engineering therapies based on the supportive action of 3D biomaterials together with the synergic action of osteo-inductive molecules and recruited stem cells that can be driven to the process of bone regeneration. However, few studies have focused on the application of tissue engineering to the regeneration of the cleft/lip and only a few have reported significant advances to offer real clinical solutions. This review provides an updated and deep analysis of the studies that have reported on the use of advanced biomaterials and cell therapies for the regeneration of cleft lip and palate regeneration.

Computer-aided design and computer-aided manufacturing (CAD/CAM) technology has been implemented in the treatment of cleft lip and palates (CLP) by several research groups. This pilot study presents a technique that combines intraoral molding with a semi-automated plate generation and 3D-printing. The clinical results of two intraoral molding approaches are compared. This is the first clinical investigation of semi-automated intraoral molding. Our study included newborns with unilateral CLP. Plaster models were digitalized and measured by two independent observers. Two methods of CAD/CAM-assisted intraoral molding were compared: (i) stepwise manual design of molding plates (conventional CAD/CAM-intraoral molding) and (ii) a semi-automated approach with an automated detection of alveolar ridges (called RapidNAM) assisted by a graphical user interface (GUI). Both approaches significantly narrowed the clefts and resulted in a harmonic alveolar crest alignment. The GUI was easy to use and generated intraoral molding devices within minutes. The presented design solution is an efficient technical refinement with good clinical results. The semi-automated plate generation with a feasible GUI is fast but allows individual adaptations. This promising technique might facilitate and foster the more widespread use of CAD/CAM-technology in intraoral molding therapy.

Nonsyndromic orofacial cleft (NSOFC) is a severe birth defect that occurs early in embryonic development and includes the subtypes cleft palate only (CPO), cleft lip only (CLO) and cleft lip with cleft palate (CLP). Given a lack of specific genetic factor analysis for CPO and CLO, the present study aimed to dissect the landscape of genetic factors underlying the pathogenesis of these two subtypes using 6,986 cases and 10,165 controls. By combining a genome-wide association study (GWAS) for specific subtypes of CPO and CLO, as well as functional gene network and ontology pathway analysis, we identified 18 genes/loci that surpassed genome-wide significance (P < 5 × 10-8) responsible for NSOFC, including nine for CPO, seven for CLO, two for both conditions and four that contribute to the CLP subtype. Among these 18 genes/loci, 14 are novel and identified in this study and 12 contain developmental transcription factors (TFs), suggesting that TFs are the key factors for the pathogenesis of NSOFC subtypes. Interestingly, we observed an opposite effect of the genetic variants in the IRF6 gene for CPO and CLO. Moreover, the gene expression dosage effect of IRF6 with two different alleles at the same single-nucleotide polymorphism (SNP) plays important roles in driving CPO or CLO. In addition, PAX9 is a key TF for CPO. Our findings define subtypes of NSOFC using genetic factors and their functional ontologies and provide a clue to improve their diagnosis and treatment in the future.

The focus of this book is on speech production and speech processing associated with cleft palate, covering phonetic (perceptual and instrumental), phonological and psycholinguistic perspectives, and including coverage of implications for literacy and education, as well as cross-linguistic differences. It draws together a group of international experts in the fields of cleft lip and palate and speech science to provide an up-to-date and in-depth account of the nature of speech production, and the processes and current evidence base of assessment and intervention for speech associated with cleft palate. The consequences of speech disorders associated with cleft on intelligibility and communicative participation are also covered. This book will provide a solid theoretical foundation and a valuable clinical resource for students of speech-language pathology, for practising speech-language pathologists, and for others interested in speech production in cleft palate, including researchers and members of multi-disciplinary cleft teams who wish to know more about the nature of speech difficulties associated with a cleft palate.

To validate and refine the existing understanding of the effectiveness of modified Z-plasty in cleft palate patients by comparing postoperative velopharyngeal function with that of healthy non-cleft individuals using MRI. The study involved six adults one year after modified Z-plasty and fourteen adults with healthy palates. MRI was used to assess the levator veli palatini (LVP) muscle and velopharyngeal structures during rest and phonation, including measurements of soft palate length and thickness. Patients post-modified Z-plasty demonstrated restored LVP muscle trajectory and contractility, yet differences in velopharyngeal dimensions persisted compared to the control group. MRI is a valuable tool for assessing velopharyngeal function. Modified Z-plasty can improve, but not fully normalize, velopharyngeal structures and function in cleft palate patients. These findings provide a reference for future optimization of surgical techniques and rehabilitation strategies in cleft palate repair.

Key Points Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP affects approximately 1 in 700 live births, with wide variability across geographic origin, racial and ethnic groups, as well as environmental exposures and socioeconomic status. CLP can occur in syndromic or non-syndromic forms. This Review focuses on the latter. Although twin studies and familial clustering studies have provided compelling evidence for a genetic component to non-syndromic CLP, few pedigrees show clear-cut Mendelian inheritance and many cases appear to be sporadic. Accurate phenotyping is crucial to understanding both the epidemiology and aetiology of any congenital malformation because the power to detect effects is weakened when heterogeneous groups are treated as a single entity. To date, genetic approaches to non-syndromic CLP have included: linkage analysis using large, multiplex families or smaller but inbred families, or analysis of affected relative pairs; association studies using case–parent trios or case–control samples; identification of chromosomal anomalies or micro-deletions in cases; and direct sequencing of affected individuals. Genome-wide association studies have provided recent major advances in our understanding of genes and pathways that have a role in the aetiology of CLP. There is remarkable heterogeneity by ancestry in the relative contributions by genes found with common variants contributing to CLP. There is evidence that environmental factors have a role in CLP risk and interactions of the environment with certain genetic variants have been identified. The next critical phase of statistical analyses will be to examine the heterogeneity underlying the aetiology of oral clefts and to investigate the gene–gene and gene–environment interactions that control risk. Integration of genetic and environmental risk using epigenetics, systems biology, gene expression and epidemiology will be required to generate a synthesis that will both better characterize aetiologies and eventually lead to improvements in prevention and clinical care. Clefts of the lip and/or palate are common and have a complex genetic and environmental basis. Recent work on these birth defects illustrates the value of combining genome-wide association studies, animal models and improved clinical phenotyping. Future work may also address gene–environment interactions. Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the aetiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.