Velopharyngeal insufficiency, speech, and language impairment in craniofacial microsomia: a scoping review.

This review provides a comprehensive overview of the literature on velopharyngeal insufficiency, associated anomalies, and speech/language impairment in patients with craniofacial microsomia (CFM). A systematic search of the literature was conducted to identify records on VPI and speech impairment in CFM from their inception until September 2022 within the databases Embase, PubMed, MEDLINE, Ovid, CINAHL EBSCO, Web of Science, Cochrane, and Google Scholar. Seventeen articles were included, analysing 1,253 patients. Velopharyngeal insufficiency results in hypernasality can lead to speech impairment. The reported prevalence of both velopharyngeal insufficiency and hypernasality ranged between 12.5% and 55%, while the reported prevalence of speech impairment in patients with CFM varied between 35.4% and 74%. Language problems were reported in 37% to 50% of patients. Speech therapy was documented in 45.5% to 59.6% of patients, while surgical treatment for velopharyngeal insufficiency consisted of pharyngeal flap surgery or pharyngoplasty and was reported in 31.6% to 100%. Cleft lip and/or palate was reported in 10% to 100% of patients with CFM; these patients were found to have worse speech results than those without cleft lip and/or palate. No consensus was found on patient characteristics associated with an increased risk of velopharyngeal insufficiency and speech/language impairment. Although velopharyngeal insufficiency is a less commonly reported characteristic of CFM than other malformations, it can cause speech impairment, which may contribute to delayed language development in patients with CFM. Therefore, timely recognition and treatment of speech impairment is essential.

Ocular and adnexal anomalies in Treacher Collins syndrome: a retrospective multicenter study.

BACKGROUND: Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by bilateral hypoplasia of facial structures and periorbital, ocular, and adnexal anomalies. The purpose of this multicenter study was to report the prevalence of ocular and adnexal anomalies in TCS and to identify patients at risk for visual impairment. METHODS: The medical records of patients seen at four craniofacial centers were reviewed retrospectively. The following data were reported: primary and secondary ocular and adnexal anomalies, orthoptic and ophthalmological findings, and severity of TCS based on the facial deformity. RESULTS: A total of 194 patients were included, of whom 49.5% were examined by an ophthalmologist or optometrist. The mean age at the first visual acuity measurement was 6.96 ± 6.83 years (range, 1.50-47.08); at final measurement, 11.55 ± 10.64 years (range, 1.75-62.58). Primary ocular anomalies were reported in 98.5% of cases, secondary anomalies in 34.5%, strabismus in 27.3%, refractive errors in 49.5%, and visual impairment in 4.6%. We found no association between ocular anomalies and visual impairment or between the severity of TCS and ocular anomalies or visual impairment, except for an increased prevalence of secondary ocular anomalies in patients with more severe manifestations of TCS. CONCLUSIONS: Ocular anomalies were present in nearly all patients with TCS, even in mild cases.

Oral health in patients with end-stage renal disease: A scoping review.

OBJECTIVES: In patients with end stage, renal disease a high rate of morbidity and mortality is present. Studies suggest that end stage renal disease may affect oral health. Therefore, the aim of this study was to perform a scoping review on periodontal disease, dental caries, xerostomia, and hyposalivation in end stage renal disease patients. MATERIALS AND METHODS: A literature search (in PubMed and Embase.com) was performed up to September 29, 2020, in collaboration with a medical information specialist. Included outcome variables were the community periodontal index, probing pocket depth, gingival index, bleeding on probing, decayed-missing-filled-teeth, carious-absent-obturated index, Xerostomia Inventory and the (un)stimulated whole salivary flow rate. RESULTS: Forty three out of 1293 studies were included in the final review comprising 7757 end stage renal disease patients. The average age was 58.3 ± 29.4 years. 28.2%-78.8% of patients reported xerostomia and the (un)stimulated salivary flow rates were significantly lower. Higher community periodontal index scores were measured in end stage renal disease patients. More decayed-missing-filled-teeth were recorded, but no differences were found between groups. CONCLUSIONS: Xerostomia and hyposalivation were highly prevalent in end stage renal disease patients. Patients have more deepened pockets, but an equal number of carious teeth compared to healthy controls.