Cardiovascular anomalies in patients with Tessier syndrome: a systematic review.

Tessier clefts are skeletal and soft tissue abnormalities of a neonate's facial structures. They could be classified as syndromic and non-syndromic clefts, which can be attributed to disruptions in fetal development and genetic mutations, respectively. Reported cases of these clefts typically document the presence of additional abnormalities associated with these clefts. In this systematic review, we analyzed reports of Tessier clefts accompanied by cardiovascular anomalies, as one of the commonly encountered anomalies. We systematically searched PubMed (MEDLINE), Scopus, Web of Science, Science Direct, and Google Scholar. We selected and included case reports, case series, and case reviews on patients with Tessier cleft and cardiovascular anomalies. The critical appraisal of the included studies was performed by two independent investigators using the Consensus-based Clinical Case Reporting Guideline Development (CARE) checklist. Overall, 20 reports (18 case reports and 2 case series) were eligible for inclusion in this review. Tessier clefts 3 and 30 were the most commonly observed. In addition, the most prevalent cardiovascular anomalies consisted of the ventricular septal defect (VSD), double-outlet right ventricle, and atrial septal defect (ASD). Most of the patients received cosmetic and cardiovascular surgeries. However, some were not proper candidates for cardiovascular surgery because of their unstable condition and therefore did not survive.   Conclusion: Regardless of the focus placed on the cleft and subsequent plastic surgery procedures in these cases, it is important to prioritize other abnormalities that may be associated with mortality. A complete cardiovascular system and associated disorders assessment should be performed before facial cosmetic surgeries. What is Known: • Tessier clefts are congenital defects in the soft tissues and bones of the face and like many other congenital defects, they are accompanied by defects in other parts of the body. • In the current literature, the emphasis is on clefts and the cosmetic issues rather than the coinciding defects, particularly cardiovascular anomalies. What is New: • Review the cardiovascular anomalies that are commonly encountered in patients with Tessier clefts.

Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort.

PURPOSE: Facial clefts belong to the most common congenital malformations and their prenatal diagnosis is a constant challenge. The aim of this study was to determine the accuracy of prenatal ultrasound in correctly classifying facial clefts. Furthermore, we aimed to specify the distribution of the type of clefts and underlying genetic conditions. METHODS: All fetuses seen with suspected facial cleft in the Department of Obstetrics, Charité - Universitätsmedizin Berlin during a period of 23 years (1999-2022) were included in this retrospective study. Clefts were classified according to the classification of Nyberg. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. RESULTS: 292 patients were included in the study. The most common type of clefts were unilateral cleft lip and palate (CL-P) (53.6%) and bilateral CL-P (30.6%), followed by CL (8.1%), CP (5.1%) and median CL-P (2.6%). The overall pre- and postnatal concordance rate corresponding to a correct prenatal diagnosis was high, 88.9%, ranging from 73.7% (CL) to 93.7% (unilateral CL-P). Most of the median clefts (95.2%) and CP (93.3%) were associated with other sonographic abnormalities, as well as 52.2% of bilateral CL-P. Chromosomal abnormalities, mostly trisomy 13 and trisomy 18, were observed in in the median CL-P (47.6%), bilateral CL-P (31.1%) and CP (26.7%) groups, in contrast to the CL (9.1%) and unilateral CL-P (12.9%) groups. It was exceptional to have a chromosomal abnormality without additional malformations (4.8%). The mortality rate including one late miscarriage, 5 IUFD's, 74 TOPs and 6 palliative cares at birth was 29.8%, particularly high for median clefts (90.5%). CONCLUSION: Prenatal ultrasound exhibited a high accuracy to assess the type of facial clefts with an average rate of 88.9% (73.7%-93.7%) and a concordance rate of up to 93.7%, depending on the type of cleft. The search for additional malformations as well as clarifying underlying genetic conditions is essential. This allows for a targeted counseling of the parents and to best prepare for postnatal care, including surgery by the maxillofacial team.

The presence of a submucous cleft palate in patients with isolated cleft lip and middle ear dysfunction.

PURPOSE: Recent studies have suggested that children with an isolated cleft lip (CL) are more likely to develop middle ear disease and eustachian tube dysfunction (ETD) compared to the general population. This may be related to abnormal palatal musculature or an undiagnosed submucosal cleft palate (SMCP). We aim to determine the prevalence of SMCP in patients with CL who exhibit ETD. MATERIALS AND METHODS: A retrospective chart review was performed for children with an isolated CL requiring tympanostomy tubes over a 20-year period at an academic tertiary care medical center. Demographic, clinical, and surgical data were collected. RESULTS: Three hundred twelve patients had an isolated CL, and 29 (9.3 %) children required tympanostomy tubes. Of those, nine (31 %) were found to have a SMCP (7 males, 6 Caucasian). The average age at CL repair was 3.94 ± 1.03 months, and the average age at tympanostomy tube placement was 13.68 ± 13.8 months. All nine patients had chronic otitis media, with four having mild conductive hearing loss and three having moderate conductive hearing loss. The SMCP was diagnosed at the time of CL diagnosis (4), after CL diagnosis with the diagnosis of chronic otitis media/ETD (2) and after a diagnosis of chronic otitis media/ETD. CONCLUSION: Middle ear disease or eustachian tube dysfunction in a patient with an isolated cleft lip should raise suspicion for an accompanying undiagnosed SMCP.

Evaluation of maxillary arch symmetry in cleft patients undergoing orthodontic treatment: a comparative study.

OBJECTIVE: Patients with a cleft require structured procedures to achieve feasible treatment results. Since many treatment protocols coexist without being superior to one another, this study investigated the Saarland University Hospital treatment concept for patients with unilateral and bilateral clefts to evaluate its effects upon dental arch dimensions until the early mixed dentition. MATERIAL AND METHODS: Digitized plaster models were used for data collection. Records of 83 patients (Cleft n = 41 [UCLP n = 28, BCLP n = 13], Non-Cleft Control n = 42) comprised 249 casts. The evaluation included established procedures for measurements of edentulous and dentate jaws. Statistics included Shapiro-Wilk, Friedmann, Wilcoxon and Mann-Whitney-U-Tests for the casts. The level of significance was set at p < 0.05. RESULTS: The cast analysis showed an approximation of arch dimensions towards those of age-matched patients without a cleft until early mixed dentition. The mean values of patients with and without cleft lip and palate were almost indistinguishable when compared in primary and/or early mixed dentition. CONCLUSIONS: The evaluated treatment concept leads to feasible outcomes regarding dental arches in patients with unilateral and bilateral clefts compared to an age-matched non-cleft control. CLINICAL RELEVANCE: The evaluated treatment concept leads to favorable outcomes until early mixed dentition.

Dental Rehabilitation of the Unilateral Cleft Dental Gap: A Single Institution Experience With Long-Term Follow-Up.

OBJECTIVE: The purpose of this study was to identify factors associated with the management of the cleft dental gap after alveolar bone grafting. METHODS: This was a retrospective cohort study of patients with unilateral cleft lip and alveolus or palate who had successful alveolar bone grafting. Our primary study outcome was alveolar cleft management (orthodontic closure or space maintenance). Our secondary study outcome was the rate of fixed dental rehabilitation. Univariate comparisons were made with SAS 9.4. RESULTS: The final study sample consisted of 54 patients. Most patients were treated with orthodontic closure (55.6%). Patients missing multiple teeth ( P < 0.01) were less likely to receive orthodontic closure. Orthodontic closure was not associated with differences in intermaxillary midline coincidence ( P = 0.22) or the need for LeFort advancement ( P = 0.15). Only 41.7% of patients who were managed with space maintenance obtained a fixed prosthesis. Hispanic ethnicity ( P < 0.01) and Medicaid insurance ( P < 0.01) were associated with lower rates of fixed dental rehabilitation. CONCLUSIONS: Orthodontic closure was the most common approach, and it did not result in significant maxillary midline distortion. Less than half of patients treated with space maintenance obtained fixed restorations. Socioeconomic barriers are likely preventing access to definitive dental rehabilitation in patients with unilateral cleft lip and alveolus or palate.

Long-term radiographic and periodontal evaluations of the bone-grafted alveolar cleft region in young adults born with a UCLP.

BACKGROUND: Studies addressing the periodontal health of the teeth surrounding the bone-grafted cleft in patients born with unilateral cleft lip and palate disagree on whether periodontal health is compromised. OBJECTIVES: To determine periodontal health differences between the cleft and the non-cleft sides nearly a decade after secondary alveolar bone grafting. METHODS: This prospective, controlled (split-mouth design) study comprised an intraoral apical radiographic and a periodontal examination of 40 consecutive patients from one centre (n = 26 males) who had undergone bone grafting at mean age of 10.2 years (±1.6). Probing pocket depth, gingival index, gingival recession, and radiographic bone support were assessed. RESULTS: No significant difference occurred in probing pocket depth between teeth at cleft and non-cleft sites (OR 1.8, P = .488). Gingival recession was present at 6.6% of all examined sites on the cleft side and at 1.7% on the non-cleft side (OR 17.3, P < .001). Gingival recession occurred most often on the buccal and disto-buccal surfaces of the central incisor on the cleft side. The gingival index was significantly higher on the cleft side (OR 8.0, P < .001). The Bergland index was I or II in most patients (87%). LIMITATIONS: Recruitment of eligible patients was lengthy. CONCLUSION: The teeth on the cleft side had high levels of gingival inflammation. Few pathological gingival pockets, however, were found. Shallow gingival recessions frequently occurred around the central incisor on the cleft side. Teeth in the bone-grafted cleft region generally had good bone support.

Efficacy of modified anterior maxillary segmental distraction osteogenesis based on 3D visualisation for the treatment of maxillary hypoplasia among adolescents with cleft lip and palate.

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.

Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report.

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.

Effect of prosthetic management and its timing on otological and audiological outcomes in infants with cleft lip and palate: A clinical trial.

PURPOSE: To evaluate how prosthetic management affects the otological and audiological state of infants with cleft lip and palate by preventing or treating otitis media (OM). MATERIALS AND METHODS: Thirty infants with cleft lip and palate (L/P) were assigned to three equal groups according to the age of prosthetic intervention; Group I: immediately after birth, Group II: 2 months old, Group III: 5 months old. Assessment of middle ear function by tympanometry and hearing quality by auditory brainstem response (ABR) under natural sleep was conducted before and after prosthetic treatment every month till 10 months of age. Data from the study groups were compared. RESULTS: No statistically significant differences were found between Gp I and Gp II in the 2nd, 3rd, and 4th months for right and left ears (p > 0.05). In the 5th month, statistically significant differences between the three groups were found in tympanometry for right (p = 0.011) and left (p = 0.024) ears also, in ABR for right (p = 0.007) and left (p = 0.011) ears. Tympanometric readings starting from the 6th till the 10th month showed no statistically significant differences between the three groups (p >0.05). The final ABR outcomes of the 10th month indicated statistically significant differences between the three groups for both ears (p = 0.027). CONCLUSIONS: Early prosthetic care could delay the development of OM, so it could potentially improve the otological and audiological state in infants with cleft L/P. However, prosthetic treatment may not be able to completely prevent or eliminate middle ear disorders.

[Clinical Characteristics Analysis of 1051 Cases of Cleft Lip With/Without Cleft Palate in the Ethnic Tibetan Population]. / 1051ä¾‹è—æ—å”‡è ­è£‚æ‚£è€ ä¸´åºŠç‰¹å¾åˆ†æž.

Objective: To examine the characteristics of the prevalence of congenital cleft lip with/without cleft palate in the ethnic Tibetan population and to provide support for the precise prevention and treatment of cleft lip with/without cleft palate in the Tibetan population. Methods: The clinical data of Tibetan patients with cleft lip with/without cleft palate were collected and the clinical characteristics of the patients were analyzed. The patients' age ranged from 2 months to 51 years old. All the subjects were admitted to West China Stomatology Hospital, Sichuan University for the treatment of cleft lip with/without cleft palate between January 2016 and August 2023. Most of the subjects came from Sichuan Province and the Tibet Autonomous Region. Results: A total of 1051 patients were enrolled and children aged under 12 months (460 cases) accounted for the largest proportion. Among the subjects, 383 had cleft lip only (36.44%), 140 had cleft palate only (13.32%), and 528 had cleft lip with cleft palate (50.24%). The male-to-female ratios of patients with cleft lip only (0.99∶1), cleft palate only (0.54∶1), and cleft lip with cleft palate (1.67∶1) exhibited significant differences (P<0.001). However, there was no significant difference in the male-to-female ratio in patients with cleft lip only or those with cleft lip with cleft palate when the subjects were divided into two groups according to whether they had unilateral or bilateral cleft lip with/without cleft palate. Most of the patients with bilateral cleft lip were female, while most of the patients with unilateral cleft lip and unilateral or bilateral cleft lip with cleft palate were male. The unilateral cleft lip with/without cleft palate was located predominantly on the left side. Syndromic cleft lip with/without cleft palate accounted for 3.43% of all the cases and the most common concomitant deformity was congenital heart disease. 3.81% (40 cases) of the patients had a family history. In the patients with cleft lip only and those with cleft palate only, the proportion of patients having parents with corresponding phenotypes was higher than those of other phenotypes of cleft lip with/without cleft palate. Regarding the birth time distribution of the children with cleft lip with/without cleft palate, Spring saw the highest number of births of these children (311 cases, 29.59%), while Winter saw the lowest number of births (231 cases, 21.98%). Conclusion: The cases of cleft lip with/without cleft palate in the ethnic Tibetan population are predominantly cleft lip and palate. Unilateral cleft lip only or cleft lip with palate is predominantly located on the left side. Lip disease phenotypes may be more heritable.

A Cross-Sectional Study of the Nutritional Status of Infants with Orofacial Clefts in the First 6 Months of Life.

OBJECTIVE(S): To estimate nutritional status in a large cohort of infants with orofacial clefts in the US, overall and by cleft type from birth to 6 months of age. STUDY DESIGN: We conducted a cross-sectional study in infants with orofacial clefts by examining growth by month between birth and 6 months of age. Infants with at least one weight measurement at a single US regional tertiary care pediatric hospital with an interdisciplinary cleft team between 2010 and 2020 were included. We calculated the average weight-for-age z scores and weight-for-length z scores. We calculated the proportion of infants underweight and wasting with z scores below -2 SDs monthly from birth to 6 months of age. We used t tests to compare the distribution of weight for age z-score and weight for length z-score among children with orofacial clefts to a normal distribution. RESULTS: We included 883 infants with orofacial clefts. Compared with expected proportion of underweight infants (2.3%), a larger proportion of infants with orofacial clefts were underweight between birth and 1 month (10.6%), peaking between 2 and 3 months (27.1%), and remaining high between 5 and 6 months (16.3%). Compared with the expected proportion of infants with wasting (2.3%), a higher proportion of infants with orofacial clefts experienced wasting between birth and 1 month (7.3%), peaking between 2 and 3 months (12.8%), and remaining high between 5 and 6 months (5.3%). Similar findings were observed for all cleft types and regardless of comorbidities. CONCLUSION(S): A substantial proportion of infants with orofacial clefts compared with normative peers have malnutrition in the first 6 months of life in the US.

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 ∗)) in the NECTIN4 gene. The variant segregated perfectly with the disorder within the family. The candidate variant was absent in 50 in-house exomes pertaining to other disorders from the same population. In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. Therefore, the study presented here, which was conducted on the Kashmiri population, is the first to document a NECTIN4 mutation associated with the upper lip cleft as a novel phenotype. This finding broadens the molecular and phenotypic spectrum of EDSS1.

The relation between clinically diagnosed and parent-reported feeding difficulties in children with and without clefts.

A cleft lip and/or palate (CL/P) is one of the most common craniofacial malformations, occurring worldwide in about one in 600-1000 newborn infants. CL/P is known to influence the feeding process negatively, causing feeding difficulties in 25-73% of all children with CL/P. Because there is a risk for serious complications in these children regarding feeding difficulties, there is often a need for intensive medical counseling and treatment. At this moment, adequate diagnosis and measurement remain a challenge and often lead to a delayed referral for professional help. Since parents play a big part in reporting feeding difficulties, it is important to help objectify parents' experiences, as well as the use of a frontline screening instrument for routine check-ups during medical appointments. The aim of this study is to investigate the relationship between parent perspective and standardized observation by medical professionals on feeding difficulties in 60 children with and without clefts at the age of 17 months. We focus on the information from parents and health professionals by comparing the Observation List Spoon Feeding and the Schedule for Oral Motor Assessment with the validated Dutch translation of the Montreal Children's Hospital Feeding Scale.  Conclusion: There is a need for timely and adequate diagnosis and referral when it comes to feeding difficulties in children with CL/P. This study underscores the importance of combining both parental observations and measurements of oral motor skills by healthcare professionals to enable this. What is Known: • Early identification of feeding difficulties can prevent adversely affected growth and development. • Clefts increase the probability of feeding difficulties; however, the diagnostic trajectory is unclear. • The Observation List Spoon Feeding (OSF) and Schedule for Oral Motor Assessment (SOMA) are validated to measure oral motor skills. The Montreal Children's Hospital Feeding Scale Dutch version (MCH-FSD) has been validated for the parental perception of infant feeding difficulties. What is New: • Parents of children with CL/P experience relatively few feeding problems in their child on average. • Oral motor skills for spoon feeding are associated with oral motor skills for solid foods in children with CL/P. • The extent of the cleft is associated with experiencing more feeding difficulties in children with CL/P.

Craniofacial characteristics in Van der Woude syndrome.

AIM: To describe the particular craniofacial characteristics of Van der Woude syndrome(VWS) patients compared to patients with a non-syndromic cleft (CG1) and to a malocclusive healthy population (CG2). MATERIAL AND METHODS: Retrospective case-control study. A sample of 110 matched-patients was recruited (VWS (n = 7), CG1 (n = 49), CG2 (n = 49)). Subsequently, 37 radiometric variables were analysed and the dental-skeletal ages were determined. The intra/inter-observer method errors were quantified. Descriptive statistics were computed, and different inferential analysis tests were used depending on the normality of the data (Chi-square test, Fisher's exact test, paired Student's T-test, Mann-Whitney U test) (p-value < 0.05). Pairwise comparisons were corrected by Bonferroni's criteria. RESULTS: VW-patients presented specific craniofacial characteristics and morphology. A marked tendency to the vertical growth pattern was found in VW-patients compared to CG1-CG2 (p < 0.001); at the sagittal level, skeletal class II caused by mandibular retrognathism, with a greatly increased ANB angle compared to CG1 (p = 0.042). Dental analysis showed that the lower incisor was more retruded and retroclined (p < 0.05 in all cases) and the interincisal angulation was increased (p < 0.001 (CG2)). At the profile level, an open nasolabial angle (p = 0.040; CG1) and a more protruding lower lip with respect to the Sn-Pg plane (p = 0.040 (CG1); p = 0.044 (CG2)) were observed. CONCLUSIONS: VW-patients present particular characteristics in the facial skeletal structures. There is a critical necessity to increase the evidence regarding specific clinical features and orofacial pathology of rare diseases such as VWS, which will help to these minorities to gain access in the future to a better quality of care with precise treatment and diagnostic necessities.

Treatment and Management of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome With Scleral Prosthetic Devices.

ABSTRACT: This case report highlights the unique application and long-term benefits of customized scleral devices in a patient with ocular complications from ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome over the span of 10 years. A 13-year-old girl with a history of EEC syndrome and ocular manifestations, including severe bilateral dry eye disease, corneal neovascularization and scarring, progressive fibrous pannus, and limbal stem cell deficiency, was examined and fitted with scleral devices. The goal of treatment was to stabilize the ocular surface, enhance vision, and improve ocular comfort. Throughout the course of treatment, there was minimal progression in ocular signs, despite interruptions in scleral device wear from application and removal challenges secondary to ectrodactyly. Customized scleral devices provided an optimal environment to support the ocular surface, improve comfort, and improve visual acuity. Further studies are required to demonstrate the benefits of scleral devices in larger populations of patients with EEC syndrome.

Achieving the next level in cleft speech intervention: A protocol of a randomized sham-controlled trial to provide guidelines for a personalized approach in children with cleft palate.

BACKGROUND: Compensatory cleft speech disorders can severely impact speech understandability and speech acceptability. Speech intervention is necessary to eliminate these disorders. There is, however, currently no consensus on the most effective speech therapy approach to eliminate the different subtypes of compensatory cleft speech disorders. AIMS: To compare the immediate, short- and long-term effects of three well-defined speech intervention approaches (i.e., a motor-phonetic approach, a linguistic-phonological approach and a combined phonetic-phonological approach) on the speech and health-related quality of life (HRQoL) in Belgian Dutch-speaking children with cleft palate with or without cleft lip (CP±L) and different subtypes of compensatory speech disorders (i.e., anterior oral cleft speech characteristics (CSCs), posterior oral CSCs or non-oral CSCs). Besides, the perceived acceptability of these three speech intervention approaches will be investigated from the perspectives of caregivers and children with a CP±L. METHODS & PROCEDURES: A two-centre longitudinal randomized sham-controlled trial was used. Children were randomly assigned to one of the three intervention programmes and received 10 h of speech intervention divided over 2 weeks. Block randomization was used, stratified by age and gender. Primary outcome measures included perceptual speech outcomes. Secondary outcome measures included patient-reported outcomes. OUTCOMES & RESULTS: The results of this trial will provide speech-language pathologists evidence-based guidelines to better tailor intervention approaches to the specific needs of a child with a defined compensatory speech disorder. WHAT THIS PAPER ADDS: What is already known on this subject Speech therapy approaches to address cleft palate speech disorders are broadly divided into two categories: motor-phonetic interventions and linguistic-phonological interventions. Some limited evidence demonstrated the positive effects of these approaches in eliminating compensatory cleft speech disorders. Different studies have reported inter-individual variation, suggesting that one child may benefit more from a particular intervention approach than the other child. Perhaps this variation can be attributed to the specific subtype of compensatory speech disorder (i.e., anterior oral CSC, posterior oral CSC or non-oral CSC). What this paper adds to existing knowledge This paper describes a randomized sham-controlled trial that compared the immediate, short- and long-term effects of three well-defined speech intervention approaches (i.e., a motor-phonetic approach, a linguistic-phonological approach and a combined phonetic-phonological approach) on the speech and HRQoL in Belgian Dutch-speaking children with CP±L and different subtypes of compensatory cleft speech disorders (i.e., anterior oral CSCs, posterior oral CSCs or non-oral CSCs) measured by perceptual and psychosocial outcome measures. Besides, the experienced acceptability of these three speech intervention approaches were investigated from the perspectives of caregivers and children. What are the potential or actual clinical implications of this work? This project provides evidence-based knowledge on patient-tailored cleft speech intervention considering both scientific evidence and the perspectives of caregivers and children. The results aid SLPs in better tailoring intervention approaches to the needs of a child with a specific type of compensatory cleft speech disorder.

Scandcleft randomized trials of primary surgery for unilateral cleft lip and palate: Speech proficiency at 10 years of age.

BACKGROUND & AIM: To assess consonant proficiency and velopharyngeal function in 10-year-old children born with unilateral cleft lip and palate (UCLP) within the Scandcleft project. METHODS & PROCEDURES: Three parallel group, randomized, clinical trials were undertaken as an international multicentre study by nine cleft teams in five countries. Three different surgical protocols for primary palate repair (Arm B-Lip and soft palate closure at 3-4 months, hard palate closure at 36 months, Arm C-Lip closure at 3-4 months, hard and soft palate closure at 12 months, and Arm D-Lip closure at 3-4 months combined with a single-layer closure of the hard palate using a vomer flap, soft palate closure at 12 months) were tested against a common procedure (Arm A-Lip and soft palate closure at 3-4 months followed by hard palate closure at 12 months) in the total cohort of 431 children born with a non-syndromic UCLP. Speech audio and video recordings of 399 children were available and perceptually analysed. Percentage of consonants correct (PCC) from a naming test, an overall rating of velopharyngeal competence (VPC) (VPC-Rate), and a composite measure (VPC-Sum) were reported. OUTCOMES & RESULTS: The mean levels of consonant proficiency (PCC score) in the trial arms were 86-92% and between 58% and 83% of the children had VPC (VPC-Sum). Only 50-73% of the participants had a consonant proficiency level with their peers. Girls performed better throughout. Long delay of the hard palate repair (Arm B) indicated lower PCC and simultaneous hard and soft palate closure higher (Arm C). However, the proportion of participants with primary VPC (not including velopharyngeal surgeries) was highest in Arm B (68%) and lowest in Arm C (47%). CONCLUSIONS & IMPLICATIONS: The speech outcome in terms of PCC and VPC was low across the trials. The different protocols had their pros and cons and there is no obvious evidence to recommend any of the protocols as superior. Aspects other than primary surgical method, such as time after velopharyngeal surgery, surgical experience, hearing level, language difficulties and speech therapy, need to be thoroughly reviewed for a better understanding of what has affected speech outcome at 10 years. WHAT THIS PAPER ADDS: What is already known on the subject Speech outcomes at 10 years of age in children treated for UCLP are sparse and contradictory. Previous studies have examined speech outcomes and the relationship with surgical intervention in 5-year-olds. What this study adds to the existing knowledge Speech outcomes based on standardized assessment in a large group of 10-year-old children born with UCLP and surgically treated according to different protocols are presented. While speech therapy had been provided, a large proportion of the children across treatment protocols still needed further speech therapy. What are the potential or actual clinical implications of this work? Aspects other than surgery and speech function might add to the understanding of what affects speech outcome. Effective speech therapy should be available for children in addition to primary surgical repair of the cleft and secondary surgeries if needed.

Longitudinal data on speech outcomes in internationally adopted children compared with non-adopted children with cleft lip and palate.

BACKGROUND: At the beginning of the 21st century, international adoptions of children with cleft lip and/or palate increased dramatically in Sweden. Many children arrived partially or totally unoperated, despite being at an age when palatoplasty has usually been performed. To date, the speech development of internationally adopted (IA) children has been described up to age 7-8 years, but later development remains unstudied. AIMS: To investigate speech development between ages 5 and 10 years in children born with cleft lip and palate (CLP) adopted from China and to compare them with non-adopted (NA) children with CLP. A secondary aim was to compare the frequencies of secondary palatal surgery and number of visits to a speech and language pathologist (SLP) between the groups. METHODS & PROCEDURES: In a longitudinal study, 23 IA children from China were included and matched with 23 NA children born in Sweden. Experienced SLPs blindly reassessed audio recordings from routine follow-ups at ages 5 and 10 years. Velopharyngeal function (VPF) was assessed with the composite score for velopharyngeal competence (VPC-Sum) for single words and rated on a three-point scale (VPC-Rate) in sentence repetition. Target sounds in words and sentences were phonetically transcribed. Per cent correct consonants (PCC) were calculated at word and sentence levels. For in-depth analyses, articulation errors were divided into cleft speech characteristics (CSCs), developmental speech characteristics (DSCs) and s-errors. Information on secondary palatal surgery and number of visits to an SLP was collected. OUTCOMES & RESULTS: VPF differed significantly between the groups at both ages when assessed with VPC-Sum, but not with VPC-Rate. Regardless of the method for assessing VPF, a similar proportion in both groups had incompetent VPF but fewer IA than NA children had competent VPF at both ages. IA children had lower PCC at both ages at both word and sentence levels. More IA children had CSCs, DSCs and s-errors at age 5 years, and CSCs and s-errors at age 10. The development of PCC was significant in both groups between ages 5 and 10 years. The proportion of children receiving secondary palatal surgery did not differ significantly between the groups, nor did number of SLP visits. CONCLUSIONS & IMPLICATIONS: CSCs were more persistent in IA children than in NA children at age 10 years. Interventions should target both cleft and DSCs, be comprehensive and continue past the pre-school years. WHAT THIS PAPER ADDS: What is already known on this subject At the beginning of the 21st century, IA children with cleft lip and/or palate arrived in Sweden partially or totally unoperated, despite being at an age when palatoplasty has usually been performed. Studies up to age 7-8 years show that adopted children, compared with NA peers, have poorer articulation skills, demonstrate both cleft-related and developmental articulation errors, and are more likely to have velopharyngeal incompetence. Several studies also report that adopted children more often require secondary palatal surgery due to fistulas, dehiscence or velopharyngeal incompetence compared with NA peers. What this paper adds to existing knowledge This longitudinal study provides additional knowledge based on longer follow-ups than previous studies. It shows that the proportion of children assessed to have incompetent VPF was similar among IA and NA children. It was no significant difference between the groups regarding the proportion that received secondary palatal surgery. However, fewer IA children were assessed to have a competent VPF. Developmental articulation errors have ceased in most IA and all NA children at age 10 years, but significantly more adopted children than NA children still have cleft-related articulation errors. What are the potential or actual clinical implications of this work? Speech and language therapy should target both cleft-related and developmental articulation errors. When needed, treatment must be initiated early, comprehensive, and continued past the pre-school years, not least for adopted children.

Effect of Sleep Position on Sleep-Disordered Breathing in Young Children With Unrepaired Incomplete Cleft Palates.

Children with cleft lip/palate are usually faced with upper airway problems after surgical repair. The severity of upper airway obstruction is more likely associated with the age and preoperative diagnosis of obstructive sleep apnea (OSA). This study aimed to investigate the severity of OSA in toddlers before palatoplasty from the perspective of polysomnography. In this retrospective cohort study, 97 children with unrepaired cleft palate and habitual prone sleeping were identified with a mean age of 1.6 years (SD 0.6) and divided into 2 age groups (1.5 year or younger and older than 1.5 year). Detailed information was collected including demographics, sleep parameters, and respiratory disturbances. Polysomnography results showed these children were at high risks of OSA with averagely moderate severity at night during their early childhood [apnea-hypopnea index 7.2±3.2 events/hour; obstructive apnea index (OAI) 6.5±2.8 events/hour]. Positional OAI was greatly lower in prone than that in laterals or in supine. Far more sleep time was spent in prone than in supine (42.9%±42.2% versus 8.5%±15.7%), which were consistent with parental reporting of prone sleeping habits. There were no significant differences found between the 2 age groups in respiratory disturbances such as apnea-hypopnea index, OAI, mean oxygen saturation, and nadir oxygen saturation ( P =0.097-0.988). Thus, prone sleeping with a history of snoring might be indicators for early screening for OSA in the cleft population. Adequate attention should be paid to their upper airway and, if available, overnight polysomnography should be performed to ascertain their potential respiratory problems before repair surgery.

Primary Unilateral Cleft Lip Rhinoplasty Technique: The Melbourne Technique.

Addressing the primary nasal deformity associated with congenital cleft lip is a complex problem that ranges in severity. There are both esthetic and functional ramifications that develop over time. This paper serves to describe the novel Melbourne technique in addressing the primary cleft nasal deformity through repositioning the septal cartilage to the facial midline, reconstructing the nasal floor, and an upper lateral suture to suspend and overcorrect the lower lateral cartilage by modifying the McComb technique. The definitive aim is long-term symmetry in the correction of the cleft lip nasal deformity and these techniques have demonstrated improved nasal symmetry in our unilateral cleft patients.