ABSTRACT
OBJECTIVES: Published literature on children with cleft palate and/or lip (CP + /-L) and CHARGE syndrome (CS) is limited. This study investigated cleft characteristics including surgery, and feeding and communication outcomes in children identified with CP + /-L and CS. DESIGN: Retrospective cross-sectional review. SETTING: Regional Referral Centre for Paediatric Cleft Surgery. PATIENTS: All children diagnosed with CP + /-L and CS (based on clinical features and/or CHD7 mutation testing) between 1989-2019. MAIN OUTCOME MEASURES: Cleft type, timing of CP + /-L repair, reasons for 'delayed' repair, feeding methods and communication modality. RESULTS: Twenty-two children with CP + /-L and CS were identified. Cleft sub-types (%) were: Eleven (50%) had bilateral cleft lip and palate (BCLP), six (27%) had unilateral cleft lip and palate (UCLP) and five (23%) had cleft palate (CP). Cleft repair was delayed compared to protocol care for non-syndromic children with CP + /-L. Median age for lip repair + /- vomerine flap was 9 months (range 4-22 months), and palate repair was 21 months (range 11-40 months). Median age for isolated CP repair was 13 months (range 7-23). Surgery for cardiac anomalies (36%) before cleft repair, and (59%) were classed as having severe systemic disease at the time of cleft surgery. Only 27% of the children in this study had both full oral feeding and verbal communication. CONCLUSIONS: Children with CP + /-L and CS had severe cleft types and complex medical problems leading to delayed cleft surgery. Feeding and speech outcomes were better in the children aged over ten years.
ABSTRACT
BACKGROUND: Pierre Robin sequence results from a cascade of events that occur during embryologic development and frequently presents with cleft palate. Some studies have shown speech outcomes to be worse in patients with Pierre Robin sequence after cleft palate repair. METHODS: A cohort of Pierre Robin sequence patients who all required an airway intervention and nasogastric feeding in the neonatal period were identified and speech outcomes assessed at 5 years of age. A cleft- and sex-matched non-Pierre Robin sequence, cleft palate-only comparison group was also identified from the same institution and study period. RESULTS: A total of 24 patients with Pierre Robin sequence that required airway and nutritional support in the neonatal period were matched for age, sex, and cleft type to a group of 24 non-Pierre Robin sequence cleft patients. There was no significant difference in the incidence of oronasal fistula between the groups. Secondary surgery for velopharyngeal incompetence was significantly more (p = 0.017) in the Pierre Robin sequence group, who also had significantly greater nasality (p = 0.031) and cleft speech characteristic (p = 0.023) scores. CONCLUSIONS: The authors hypothesize that other factors may exist in Pierre Robin sequence that may lead to poor speech outcomes. The authors would suggest counseling parents of children with Pierre Robin sequence that have required a neonatal airway intervention, that speech development may be poorer than in other children with cleft palate, and that these children will have a significantly higher incidence of secondary speech surgery. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.
