"Long term speech outcomes after using the Sommerlad technique for primary palatoplasty: a retrospective study in the Wilhelmina Children's Hospital, Utrecht."

OBJECTIVES: After cleft lip and/or palate (CL/P) repair, children may develop velopharyngeal insufficiency (VPI) leading to speech imperfections, necessitating additional speech correcting surgery. This study examines the incidence of VPI and speech correcting surgery after Sommerlad's palatoplasty for CL/P, and its association with various clinical features. MATERIALS AND METHODS: A retrospective cohort study was performed in the Wilhelmina Children's Hospital in Utrecht and child records from 380 individuals with CL/P registered from 2008 to 2017 were retrospectively reviewed. Inclusion criteria comprised the diagnosis of CL/P, primary palatoplasty according to Sommerlad's technique, and speech assessment at five years or older. Association between cleft type and width, presence of additional genetic disorders and postoperative complications (palatal dehiscence, fistula) were assessed using odds ratios and chi squared tests. RESULTS: A total of 239 patients were included. The VPI rate was 52.7% (n = 126) and in 119 patients (49.8%) a speech correcting surgery was performed. Severe cleft type, as indicated by a higher Veau classification, was associated with a significant higher rate of speech correcting surgeries (p = 0.033). Significantly more speech correcting surgeries were performed in patients with a cleft width >10 mm, compared to patients with a cleft width ≤10 mm (p < 0.001). Patients with oronasal fistula underwent significantly more speech correcting surgeries than those without fistula (p = 0.004). No statistically significant difference was found in the incidence of speech correcting surgery between patients with and without genetic disorders (p = 0.890). CONCLUSIONS/CLINICAL RELEVANCE: Variations in cleft morphology, cleft width and complications like oronasal fistula are associated with different speech outcomes. Future research should focus on creating a multivariable prediction model for speech correcting surgery in CL/P patients.

Speech correcting surgery after primary palatoplasty: a systematic literature review and meta-analysis.

OBJECTIVES: In cleft palate patients, the soft palate is commonly closed using straight-line palatoplasty, Z-palatoplasty, or palatoplasty with buccal flaps. Currently, it is unknown which surgical technique is superior regarding speech outcomes. The aim of this review is to study the incidence of speech correcting surgery (SCS) per soft palatoplasty technique and to identify variables which are associated with this outcome. MATERIALS AND METHODS: A systematic literature search was carried out according to the PRISMA guidelines. Inclusion and exclusion criteria were applied to focus on the incidence of SCS after soft palatoplasty. Additional variables like surgical modification, cleft morphology, syndrome, age at palatoplasty, fistula and assessment of velopharyngeal function were reported. A modified New-Ottawa Scale (NOS) was used for quality appraisal. Pooled estimates from the meta-analysis were calculated using a random-effects model. RESULTS: One thousand twenty-nine studies were found of which 54 were included in the analysis. The pooled estimate proportion of SCS after straight-line palatoplasty was 19% (95% CI 15-24), after Z-palatoplasty 6% (95% CI 4-9), and after palatoplasty with buccal flaps 7% (95% CI 4-11). CONCLUSIONS: A lower SCS rate was found in patients receiving Z-palatoplasty when compared to straight-line palatoplasty. We propose a minimum set of outcome parameters which ideally should be included in future studies regarding speech outcomes after cleft palate repair. CLINICAL RELEVANCE: Current literature reports highly heterogenous data regarding cleft palate repair. Our recommended set of parameters may address this inconsistency and could make intercenter comparison possible and of better quality.

The ontogeny of Robin sequence.

The triad of micrognathia, glossoptosis, and concomitant airway obstruction defined as "Robin sequence" (RS) is caused by oropharyngeal developmental events constrained by a reduced stomadeal space. This sequence of abnormal embryonic development also results in an anatomical configuration that might predispose the fetus to a cleft palate. RS is heterogeneous and many different etiologies have been described including syndromic, RS-plus, and isolated forms. For an optimal diagnosis, subsequent treatment and prognosis, a thorough understanding of the embryology and pathogenesis is necessary. This manuscript provides an update about our current understanding of the development of the mandible, tongue, and palate and possible mechanisms involved in the development of RS. Additionally, we provide the reader with an up-to-date summary of the different etiologies of this phenotype and link this to the embryologic, developmental, and genetic mechanisms.

Health-related quality of life in children with Robin sequence.

This patient-reported outcome (PRO) study reports on 102 children with Robin sequence (RS) and their parents. There has been differentiated between those with isolated RS and those with RS as part of a syndrome, and take various treatments into account. All RS families from an earlier described cohort were invited to participate. Parents and RS children completed online questionnaires regarding health-related quality of life (HRQoL), satisfaction with appearance, parental distress, and RS specific topics. Results were compared with the Dutch norm population if available. There was no major difference in HRQoL in RS children and the Dutch norm population, nor between children with isolated RS and those with RS as part of a syndrome. The latter is likely due to the large percentage of children with Stickler syndrome, and small number of RS children with intellectual disability. Parental distress was higher in RS children with syndromes compared to parents of isolated RS children. When comparing various treatments, the subgroup treated by mandibular distraction showed a tendency of lower HRQoL scores, less satisfaction with appearance, and more parental distress. Also in the NPA group parents showed a tendency of more parental distress. Subgroups for each treatment were very small, however, and firm conclusions cannot be drawn. In this study, HRQoL in RS children is demonstrated comparable to the norm population, despite variations in treatment, possibly with less favorable outcome for children who received mandibular distraction. Markedly larger studies are needed to allow more reliable comparison of PROs in various treatments, and to incorporate PROs in management guidelines to obtain optimal patient care. © 2016 Wiley Periodicals, Inc.

Growth and prevalence of feeding difficulties in children with Robin sequence: a retrospective cohort study.

OBJECTIVES: In addition to breathing problems, patients with Robin sequence (RS) often encounter feeding difficulties (FD). Data regarding the occurrence of FD and possible influencing factors are scarce. The study aim was to elucidate these factors to improve treatment strategies. MATERIAL AND METHODS: A retrospective comparative cohort study was conducted, consisting of 69 infants diagnosed with both RS and a cleft palate and 64 isolated cleft palate only (iCPO) infants. Data regarding FD, growth, and airway intervention were collected during the first 2 years of life. A systematic review of the literature was conducted to identify reported FD in RS patients. RESULTS: RS patients had more FD (91 %) than iCPO patients (72 %; p = 0.004). Also, nasogastric (NG)-tube feeding was necessary more frequently and for a longer period (both p < 0.001). Growth was lower in RS than iCPO infants (p = 0.008) and was not affected by the kind of airway management (conservative/surgical; p = 0.178), cleft palate grade (p = 0.308), or associated disorders (p = 0.785). By contrast, surgical intervention subtype did significantly affect growth. Mean reported FD for RS in the literature is 80 % (range = 47-100 %), and 55 % (range = 11-100 %) of infants need NG-tube feeding. CONCLUSIONS: FD is present in a large proportion of infants with RS, which indicates the need for early recognition and proper treatment to ensure optimal growth. Growth during the first 2 years of life is significantly lower in RS patients than iCPO patients, which indicates the need for careful attention and long-term follow-up. CLINICAL RELEVANCE: This study indicates the need for early recognition and proper treatment of FD in RS to ensure optimal growth. In addition, growth needs careful attention and long-term follow-up.

Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature.

The birth prevalence of Robin sequence (RS) is frequently cited to be 1 in 8,500 to 14,000 live births (range: 7,1-11,8 per 100.000), which is based on just a few epidemiological studies. The objective of this study is to contribute to the limited knowledge of the epidemiology of RS by determining the frequency of RS in a cleft palate (CP) population and the estimated birth prevalence in live births in the Netherlands, using distinct diagnostic criteria. A retrospective population-based analysis of the National Cleft Registry was performed in order to obtain all CP patients registered in the Netherlands from 2000-2010, in addition to a thorough review of the medical records in three Dutch Academic Pediatric Hospitals for the same period. Furthermore, a systematic search of the literature was conducted to allow for comparison of our findings. The Dutch birth prevalence of RS was estimated to be 1:5,600 live births (or 17.7 per 100,000), with a slight female predominance. RS was estimated to occur in a third of the CP population and patients with RS had a more severe cleft grade than the general CP population. The literature search yielded 42 studies reporting the birth prevalence for RS, which varied between 1:3,900 and 1:122,400 (0.8-32.0 per 100,000), with a mean prevalence of 1:24,500 (8.0 per 100,000). The birth prevalence of RS in the Netherlands was higher than reported for most other countries when similar diagnostic criteria were used, with a slight female predominance. A third of the general CP could be classified as RS.

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

Robin sequence (RS) can be defined as the combination of micrognathia and upper airway obstruction/glossoptosis causing neonatal respiratory problems, with or without a cleft palate and either isolated or non-isolated. Pathogenesis varies widely. We hypothesize that optimal treatment depends on pathogenesis and therefore patients should be stratified according to diagnosis. Here, we evaluate diagnoses and (presumed) pathogeneses in an RS cohort. Medical records of all RS patients presenting between 1995-2013 in three academic hospitals were evaluated. Four clinical geneticists re-evaluated all information, including initial diagnosis. Diagnoses were either confirmed, considered uncertain, or rejected. If uncertain or rejected, patients were re-evaluated. Subsequent results were re-discussed and a final conclusion was drawn. We included 191 RS patients. After re-evaluation and changing initial diagnoses in 48 of the 191 patients (25.1%), 37.7% of the cohort had isolated RS, 8.9% a chromosome anomaly, 29.3% a Mendelian disorder, and 24.1% no detectable cause. Twenty-two different Mendelian disorders were diagnosed, of which Stickler syndrome was most frequent. Stratification of diagnoses according to (presumed) pathogenic mechanism in 73 non-isolated patients with reliable diagnoses showed 43.9% to have a connective tissue dysplasia, 5.5% a neuromuscular disorder, 47.9% a multisystem disorder, and 2.7% an unknown mechanism. We diagnosed more non-isolated RS patients compared to other studies. Re-evaluation changed initial diagnosis in a quarter of patients. We suggest standardized re-evaluation of all RS patients. Despite the relatively high diagnostic yield pathogenesis could be determined in only 59.7% (71/119), due to limited insight in pathogenesis in diagnosed entities. Further studies into pathogenesis of entities causing RS are indicated.

A pragmatic approach to infants with Robin sequence: a retrospective cohort study and presence of a treatment algorithm.

OBJECTIVES: Initial approaches to and treatments of infants with Robin sequence (RS) is diverse and inconsistent. The care of these sometimes critically ill infants involves many different medical specialties, which can make the decision process complex and difficult. To optimize the care of infants with RS, we present our institution's approach and a review of the current literature. MATERIAL AND METHODS: A retrospective cohort study was conducted among 75 infants diagnosed with RS and managed at our institution in the 1996-2012 period. Additionally, the conducted treatment regimen in this paper was discussed with recent literature describing the approach of infants with RS. RESULTS: Forty-four infants (59%) were found to have been treated conservatively. A significant larger proportion of nonisolated RS infants than isolated RS infants needed surgical intervention (53 vs. 25%, p = .014). A mandibular distraction was conducted in 24% (n = 18) of cases, a tracheotomy in 9% (n = 7), and a tongue-lip adhesion in 8% (n = 6). Seventy-seven percent of all infants had received temporary nasogastric tube feeding. The literature review of 31 studies showed that initial examinations and the indications to perform a surgical intervention varied and were often not clearly described. CONCLUSIONS: RS is a heterogenic group with a wide spectrum of associated anomalies. As a result, the decisional process is challenging, and a multidisciplinary approach to treatment is desirable. Current treatment options in literature vary, and a more uniform approach is recommended. CLINICAL RELEVANCE: We provide a comprehensive and pragmatic approach to the analysis and treatment of infants with RS, which could serve as useful guidance in other clinics.

Postoperative respiratory difficulties following primary cleft palate repair in infants with Robin sequence versus isolated cleft palate: A retrospective study.

The study aimed to: (1) compare the occurrence of postoperative respiratory difficulties (PRD) following primary cleft palate repair (CPR) in infants with an isolated cleft palate (iCP) and infants with Robin sequence (RS), and (2) describe the possible benefit of preoperative analysis with palatal plate in infants with RS. All consecutive infants with an iCP and infants with RS who underwent CPR between January 2009 and June 2022 in the Wilhelmina Children's Hospital were retrospectively reviewed. A total of 127 infants were included of which 74 infants with an iCP and 53 infants with RS. The group of infants with RS consisted of 35 infants with non-isolated RS (niRS) and 18 infants with isolated RS (iRS). Significant more PRD were seen in infants with RS compared to infants with an iCP (14/53 versus 9/74; p = 0.04). Especially infants with niRS have a significant higher risk of developing PRD in comparison with infants with an iCP (OR = 4.16, 95% CI [1.17-15.99], p = 0.031). The preoperative palatal plate screening in infants with RS (n = 25) did not show abnormalities and had no effect on the perioperative policy. Within the limitations of this study it seems that infants with niRS are more prone to develop PRD following primary CPR when compared to infants with iRS or an iCP. No clear benefit was found in postponing surgery until 12 months or later in infants with RS to avoid PRD. The preoperative palatal plate screening did not demonstrate signs of UAO in infants with RS that developed PRD. These findings suggest that preoperative analysis with palatal plate has a low predictive value.

A systematic review on the outcome of mandibular distraction osteogenesis in infants suffering Robin sequence.

OBJECTIVES: Mandibular distraction osteogenesis (MDO) has been successfully applied in infants suffering Robin sequence (RS) with severe upper airway obstruction, but no comparative studies for the different types of MDO exist to date. The objective of the current study was to systematically review the published data considering this matter, providing a fundament for protocols and a more conscious treatment strategy for infants with RS in the near future. MATERIAL AND METHODS: For the period from January 1966 to January 2012, the Pubmed, EMBASE, and Cochrane Library databases were searched. Abstracts were screened based on predetermined selection criteria. Relevant full-text articles were retrieved. The articles were analyzed on the type of MDO used, preoperative workup, patient characteristics, postoperative outcome, and complications. RESULTS: The search yielded 109 articles. After checking abstracts and full texts on predetermined inclusion and exclusion criteria, 12 studies (four describing external MDO, five internal MDO, and three both types) were extracted for further analyses. CONCLUSION: Internal MDO seems very feasible in infants suffering RS, minimizing side effects such as hypertrophic scarring, nerve damage, and extensive care needs, although the indications for usage are more limited compared to the external device. Corresponding protocols and long-term outcome studies are needed to make a better comparison and the use and indication of the different types of distraction even more distinct. CLINICAL RELEVANCE: A base for a guideline to support the choice of a designated operative management for neonates with RS is provided, hereby obviating possible complications of the different types of MDO in the future.