Page 146 - Demo

Chapter 4144History of otolaryngologic conditionsChronic otitis media was reported most (56.7%), with an occurrence comparable to what was previously reported in 22q11.2DS.7, 32 Globus pharyngeus was reported in 18.3%, and related to feelings of stress in some. Adults with globus may benefit from muscle relaxation therapy by a speech-language therapist.33 Swallowing difficulties (10.0%) were often accompanied by globus and were mostly related to eating solid food such as dry meat. In a tertiary reference center for immunodeficiencies, a prospective cohort study of 25 children and adolescents with 22q11.2DS, that were all examined using videofluoroscopy, found swallowing anomalies in 16%, including hypopharyngeal residues after swallowing and nasal regurgitation.32 Sixteen percent of the participants in that study had history of laryngeal aspiration.32 In a study in infants with 22q11.2DS who were referred for swallow studies, 80% was found to have silent tracheal aspirations.34 Another study in children reported a history of feeding difficulties in 35.5%. Using barium swallow studies, it became clear that dysmotility probably played an important role in these children.35 In a mouse model of 22q11.2DS, feeding and swallowing difficulties at young age were found to persist in adult mice.36 Balance problems, reported in 16.7%, may relate to abnormalities of the vestibulum, cerebellum, and/or proprioceptive system, lower muscle strength, and/or visual problems.18, 37-39 Movement disorders, such as Parkinson’s disease, may also be considered in older adults with 22q11.2DS.37, 40 The occurrence of OSA was comparable to that previously reported in children and adults with 22q11.2DS.41, 42 OSA can have a negative effect on quality of life, and may increase the risk of cardiometabolic diseases.43 Given that OSA is a treatable condition, polysomnography should be considered with a low threshold.44We recommend otolaryngologic examination at least once for adults with 22q11.2DS. Special attention should be paid to conditions that may present at adult age and may have treatment implications such as OSA, globus pharyngeus, dysphagia and vestibular dysfunction.Strengths and limitationsTo our knowledge, this is the largest sample of adults with 22q11.2DS who received audiometric testing and standardized otolaryngologic examinations. Limitations of the study mainly relate to the retrospective