Two-stage palatoplasty: long-term results

Abstract

The orofacial cleft is the most prevalent congenital craniofacial malformation worldwide. The treatment of cleft lip and palate aims to achieve adequate speech development, normal hearing, optimal dental occlusions and good aesthetic outcomes while minimizing mid-facial growth impairment. Despite the relative high prevalence of orofacial clefts, consensus regarding the optimal surgical treatment of the unilateral cleft lip and palate is still lacking. As the iatrogenic effects of surgery may become more apparent when patients mature, long-term assessment is essential to make a comprehensive evaluation of a treatment protocol. Studies with sufficient long-term follow-up are however few in number. This thesis assesses the main outcome measures - speech, craniofacial growth, dental occlusion, hearing and quality of life – in a group of adult patients with a unilateral cleft lip and palate treated by the original Utrecht two-stage palatoplasty protocol in which the hard palate is closed at a mean age of three years. In addition, we performed whole exome sequencing to identify gene mutations causing the orofacial digital syndrome type I. When comparing these long-term results to those obtained by centres applying one-stage closure, a significant improvement of dental arch relationships or maxillary growth was not observed. Additionally, the mean number of surgeries per patient was relatively high. Long-term speech outcomes were moderate, comprising a relatively high incidence of perceptual hypernasality, articulation errors and pharyngoplasties. Persistent hearing loss was present in 19.4% of the patients (PTA > 20 dB), mainly at the higher frequencies. It was also confirmed that psychological adjustment can fluctuate over time and differs between individuals at an adult age. Lastly it was found that NEK-1 gene mutations can be involved in the etiology of orofacial digital syndrome type 1 due to a defect in cilia formation. The results in the previously published literature and this thesis suggest that there is no clear benefit of delaying hard palate closure until the age of 3 years in terms of mid-facial growth, dental occlusion or speech outcomes. It remains however hard to determine the optimal surgical technique for palatoplasty due to the great heterogeneity of techniques used and the scarcity of high quality long-term research. Psychological support should be available throughout the patients’ life, especially during times of transition. Future studies require improved methods for data-collection, but also a more uniform method of reporting. Furthermore, hearing sensitivity remains an underreported long-term outcome within the literature making additional studies necessary.