European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025
Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort.
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Hack Sholem, Madgar Ory
Аннотация
PURPOSE: 22q11.2 deletion syndrome is a genetic disorder with a high burden of otolaryngologic disease in children, but detailed contemporary analyses are scarce. This study aimed to describe the spectrum, co-occurrence, interventions, and outcomes of otolaryngologic manifestations in a pediatric cohort with 22q11.2 deletion syndrome at a tertiary referral center.
METHODS: A retrospective chart review was conducted among children with 22q11.2 deletion syndrome who attended otolaryngology clinics between January 2014 and March 2025. Data were collected from medical records, verified by manual review, and analyzed using a privacy-preserving data platform. Variables included demographics, palatal findings, speech and language outcomes, hearing assessments, airway findings, and details of otolaryngologic procedures. Outcomes were derived from clinician-documented assessments rather than uniform standardized tests, and descriptive and comparative statistics were used to assess overlap and outcome predictors.
RESULTS: Fifty children were included. Structural or functional palatal anomalies were present in nearly two-thirds of patients. Moderate or severe speech delay was observed in over 40%. Hearing loss, primarily conductive, affected 74%, and airway abnormalities were found in more than half. There was frequent overlap among palatal, hearing, and airway disorders, but no single variable independently predicted moderate or severe speech delay. Palate repair and ventilation tube insertion were commonly performed, yet residual morbidity and repeated procedures remained frequent.
CONCLUSION: Otolaryngologic disease in children with 22q11.2 deletion syndrome is highly prevalent and multidimensional, with frequent overlap and ongoing morbidity. Multidisciplinary management and extended follow-up are essential to address the complex needs of this population. These findings underscore the value of retrospective, clinic-based analyses to inform contemporary care in this rare pediatric disorder.
METHODS: A retrospective chart review was conducted among children with 22q11.2 deletion syndrome who attended otolaryngology clinics between January 2014 and March 2025. Data were collected from medical records, verified by manual review, and analyzed using a privacy-preserving data platform. Variables included demographics, palatal findings, speech and language outcomes, hearing assessments, airway findings, and details of otolaryngologic procedures. Outcomes were derived from clinician-documented assessments rather than uniform standardized tests, and descriptive and comparative statistics were used to assess overlap and outcome predictors.
RESULTS: Fifty children were included. Structural or functional palatal anomalies were present in nearly two-thirds of patients. Moderate or severe speech delay was observed in over 40%. Hearing loss, primarily conductive, affected 74%, and airway abnormalities were found in more than half. There was frequent overlap among palatal, hearing, and airway disorders, but no single variable independently predicted moderate or severe speech delay. Palate repair and ventilation tube insertion were commonly performed, yet residual morbidity and repeated procedures remained frequent.
CONCLUSION: Otolaryngologic disease in children with 22q11.2 deletion syndrome is highly prevalent and multidimensional, with frequent overlap and ongoing morbidity. Multidisciplinary management and extended follow-up are essential to address the complex needs of this population. These findings underscore the value of retrospective, clinic-based analyses to inform contemporary care in this rare pediatric disorder.