ENT and Audiology Issues in 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome (22q11DS), also known as DiGeorge syndrome, may include issues related to the ears, nose, and throat (ENT) as well as hearing, which can vary widely in severity, often affecting auditory function, speech development, and overall quality of life.
Cleft Palate and Speech Difficulties:
One of the hallmark features of 22q11DS is the high incidence of palatal abnormalities (in about two-thirds of children), typically including velopharyngeal dysfunction (VPD), which can occur alongside a cleft palate. These can affect the normal functioning of the mouth and nasal passages, leading to difficulties with speech development, such as a hypernasal speech, speech delay or poor intelligibility. Such speech difficulties often require speech therapy or surgical interventions.
Hearing Loss:
Individuals with 22q11DS are at a higher risk of developing hearing loss, particularly conductive hearing loss, which is often caused by middle ear problems. The presence of a cleft palate and associated dysfunction of the Eustachian tube can lead to recurrent otitis media (middle ear infections), which may result in fluid accumulation in the middle ear. This fluid can interfere with sound transmission, leading to hearing difficulties, which can affect speech development, social interactions and education. In some cases, if untreated, this can result in long-term or even permanent hearing loss. Early identification of hearing issues through routine audiological screening is critical.
Eustachian Tube Dysfunction:
In individuals with 22q11DS, the dysfunction of the Eustachian tube is common. The structure of the tube may be anatomically abnormal due to the cleft palate, making it prone to blockage and failure to equalize pressure in the middle ear. This can lead to the accumulation of fluid, ear infections, and ultimately hearing loss. In some cases, surgical interventions such as the placement of ear tubes are necessary to prevent recurrent infections and fluid buildup
Sinus and Nasal Problems:
Due to the craniofacial anomalies that are common in 22q11DS, individuals with the syndrome may also experience chronic sinus issues and nasal problems. These can lead to chronic sinusitis (inflammation of the sinuses) and frequent upper respiratory infections.
Laryngopharyngeal Reflux (LPR):
Individuals with 22q11DS are also at risk for laryngopharyngeal reflux (LPR), a condition where stomach acid backs up into the throat. LPR can cause irritation and inflammation of the vocal cords and the lining of the throat, leading to hoarseness, chronic cough, and difficulties with swallowing. Changes in lifestyle (eating habits and diet) and nonprescription medicines can help. If needed, stronger medicines can be prescribed.
Dental and Oral Health:
Many individuals with 22q11DS experience dental issues, which may contribute to ENT complications.
The ENT and audiological issues in individuals with 22q11.2 deletion syndrome are diverse and can significantly impact their quality of life. Early diagnosis and intervention are essential in managing these issues. Regular screenings for hearing loss, speech evaluations, and close monitoring of ENT health can help mitigate complications. Speech therapy, surgical interventions such as cleft palate repair or ear tube placement, treatment for laryngopharyngeal reflux, and other supportive measures can play a vital role in improving communication, social interaction, and overall well-being for individuals with this genetic condition. The multidisciplinary approach involving audiologists, speech therapists, otolaryngologists, and other specialists is key to addressing the complex ENT challenges faced by individuals with 22q11DS.