Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation

Apert syndrome (AS) is caused by the heterozygous presence of 1 of 2 specific missense mutations of the fibroblast growth factor receptor 2 (FGFR2) gene. The 2 adjacent substitutions, designated p.Ser252Trp (S252W) and p.Pro253Arg (P253R), account for more than 98% of cases. Previous research has identified elevated hearing difficulties and incidence of cleft palate in this population. However, the influence of FGFR2 genotype on the speech, language, and communicative participation of children with AS has yet to be examined. Methods: A retrospective case note analysis was completed for all patients with a genetically-confirmed Apert mutation who attended the Oxford Craniofacial Unit over a 43-year period (1978 – 2020). Medical records were analyzed for speech, language, hearing, and communication data in detail. The therapy outcome measures, based on the World Health Organization International Classification of Functioning, Disability, and Health was used to classify patient’s communicative participation. Results: The authors identified 55 AS patients with genetically-confirmed mutation of the FGFR2 gene. One patient with a S252F mutation was excluded. There were 31 patients with the S252W mutation (male ¼ 14; female ¼ 17), age range of last hearing