Pediatrics (P)
Lori C. Yaktine, AuD (she/her/hers)
Pediatric Audiologist
Children's Mercy Hospital
Overland Park, Kansas
Disclosure(s): No financial or nonfinancial relationships to disclose.
Jill Arganbright, MD
Disclosure(s): No financial or nonfinancial relationships to disclose.
Amanda Moore
Disclosure(s): No financial or nonfinancial relationships to disclose.
Jamie Hamm, AuD
Disclosure(s): No financial or nonfinancial relationships to disclose.
Meghan Tracy
Disclosure(s): No financial or nonfinancial relationships to disclose.
Janelle Noel-Macdonnel, PhD
Disclosure(s): No financial or nonfinancial relationships to disclose.
Background
Hearing loss is considered common in children with 22q11.2 deletion syndrome (22q11.2DS). A few studies have reported a 32-60% prevalence, most often conductive and frequently caused by chronic otitis media with effusion. Sensorineural hearing loss (SNHL) is less frequent. It is unclear if SNHL develops or progresses over time. Despite prior studies examining hearing loss in people with 22q11.2DS, there is an overall paucity of data regarding frequency, type, and specific features including cochlear abnormalities.
Methods
Retrospective chart review was completed, and data combined for two large 22q Centers based in tertiary care children’s hospitals. Inclusion criteria were children with a diagnosis of 22q11.2DS and documented audiologic testing. Data extracted included: a laboratory confirmed chromosome 22q11.2 deletion via FISH, MLPA, CGH or SNP microarray; co-morbidities, in particular congenital heart disease, palatal anomalies, and speech and language delay; results of all prior audiologic testing and radiologic temporal bone imaging (CT and MRI); and otologic surgical procedures.
Results
1,640 charts were reviewed; 775 met inclusion criteria. Of these children, 87% had a documented history of speech delay and 25% had cleft palate (submucous or overt). At least one abnormal audiogram demonstrating hearing loss was noted in 489 children (71%). A total of 2,536 audiograms were reviewed; 74% of these showed abnormal hearing in at least one ear. Conductive hearing loss (CHL) was the most common type (83%), followed by SNHL (12%), and mixed (5%). Most of the hearing loss was mild severity. For the children with SNHL, 90% of all follow-up audiograms remained at the same level of severity as their first audiogram. Ear tube placement occurred in 42% of children and 55% of these individuals had multiple sets of ear tubes.
Conclusion
This study confirms the high frequency of hearing loss in children with 22q11.2DS and is most often conductive and mild in severity. Ear tube placement was common. The results highlight the importance of otolaryngology and audiology involvement in managing children with 22q11.2DS. Annual ear exam with audiogram is recommended to allow for timely diagnosis and treatment of hearing loss.