Feeding and speech issues are common and complex in children and adults with 22Q-velocardiofacial syndrome. Identifying and targeting the underlying issues can be difficult as there are often multiple causes in the same child, including both structural differences and neurological issues.
Feeding
There are significant feeding and swallowing problems (dysphagia) that can result in coughing, choking, needing to “swallow twice” to get food down, food coming out the nose, and intolerance of certain textures. The swallowing issues can be severe enough to require a gastrostomy (G-tube). It is also common to hear reports that children and adolescents are extremely picky eaters. They may experience gastroesophageal reflux disorder (GERD). Constipation is a common problem even in the absence of other gastrointestinal abnormalities.
Recommendation
- Observe / evaluate in clinic
- Refer for nutrition / speech / feeding evaluations as needed depending on the nature and severity of symptoms
Speech
One study showed as many as 96 percent of individuals with 22Q-VCFS had delayed language acquisition. This included absent or limited babbling as infants, first words after age 2, and first phrases after age 3. Some children have apraxia of speech and will require specialized treatment. Communication (not just speech) is the primary goal.
Recommendation
- Observe / evaluate in clinic
- Refer for formal speech and language evaluations and therapy as needed. Usually this begins with early intervention programs followed by a combination of private and school-based speech therapy.
- We recommend the use of sign language with children who have delayed speech, or speech that others cannot understand.
Pharyngeal Valve / Palate Issues
About 70 percent of individuals with 22Q-VCFS will have palatal abnormalities. These include cleft palate, submucosal cleft palate, bifid uvula and velopharyngeal insufficiency. The pharyngeal valve is located at the back of the throat. It is used for both swallowing and speech. When it does not function as it should, the result is called velopharyngeal dysfunction or velopharyngeal insufficiency (VPI).
Recommendation
- Children suspected of having VPI are referred to the VPI Clinic for multidisciplinary evaluation to determine the best treatment options.