Dysphagia in VCFS

In children and infants with velocardiofacial syndrome (VCFS), swallowing and eating difficulties are common and often quite complicated, as well. The various etiologies—the magnitude of which can be alarming—include: hypotonia, irritable temperament, delayed gastric emptying, palatal and pharyngeal anomalies, vascular anomalies, airway compromise, chronic constipation, and airway compromise (Boyer & Fullman, 2012).

One problem that is often found in children with VCFS is failure-to-thrive, and the most common cause of feeding problems is a compromised upper airway (Sphrintzen, 2005). Accurate diagnosis is important, and fiberoptic endoscopic evaluations of swallowing and video fluoroscopic swallow studies are used to determine upper airway obstruction (Boyer & Fullman, 2012).

Cardiac problems, common in children with VCFS, can cause children to tire, and this can affect sucking and swallowing, especially in infants. Further, veins and arteries can wrap around the trachea or esophagus. If this occurs in the trachea, the lower part of the airway can become blocked and could possibly prevent bolus transport (Sphrintzen, 2005). Emesis can occur if the esophagus is being pinched; not to be confused with gastro esophageal reflux (GERD). If the child “spits up” often, imaging studies are in order (Boyer & Fullman, 2012).

Cleft palate and related feeding issues are also an issue with VCFS. According to Boyer and Fullman (2012), feeding can be encouraged by position and type of bottle, especially those with a tip featuring a cross-cut hole that allows milk to flow more freely (Sphrintzen, 2005).

Velopharyngeal insufficiency (VPI) affects children with VCFS regardless of cleft palate status. According to Devriendt et al (2005), those with VPI often experience nasal regurgitation when drinking liquids, and during feeding; thus, their sucking action can be marginal (as cited in Boyer & Fullman, 2012).

Hypotonia is a common condition of children with VCFS, which can affect the gastric tract in its entirety, which in turn affects bolus transport and swallowing. A slower rate of the gastric system emptying can occur, especially when combined with constipation, and this negatively affects appetite. According to Boyer & Fullman (2012) children with VCFS grow at a slower rate, so getting enough nutrition can be a concern. However, trying to increase feeding can also cause problems such as discomfort. Family education is vital.

Rommel et al (2008) reported that of the three children with VCFS in their study, two had nasal regurgitation after swallows due to dysphagia of the later swallowing stages. Each child had varied dysfunctions. Botox injections helped one, another with only behavioral and dietary adjustments, and one received intervention for both upper esophageal dysfunction and oral deficits including lack of tongue movement. All of the children required instrumental assessments via a speech-language pathologist (SLP) who specializes in pediatric dysphagia or via feeding teams (as cited in Boyer & Fullman, 2012).

Due to the numerous problems encountered with VCFS, babies and children often are irritable and unhappy because of not feeling well. Couple this with gastrointestinal problems, and a lack of appetite often becomes another issue. It is crucial that caregivers do not attempt force feeding, which will only increase discomfort. This can lead to frustration for well-meaning parents, and it can lead to cycle of failure that is frustrating to everyone involved. Thus, it is important for SLPs and early intervention specialists (EI) to assist families with these issues.

References

Boyer, V. E., Fullman, L. I., & Bruns, D. A. (2012). Velocardiofacial syndrome and 

     early intervention Providers. Infants & Young Children, 25(1), 83–94. doi:10.1097

     /IYC.0b013e31823cff6b.

Devriendt, K., Rommel, N., & Casteels, I. (2005). Nephro-urologic, gastrointestinal, and ophthalmic 

     findings. In K. C. Murphy & P.J. Scambler (Eds.), Velo-cardio-facial syndrome: A model for 

     understanding microdeletion disorders, 108-120. Cambridge, UK: Cambridge University Press.

Rommel, N., Davidson, G., Cain, T., Hebbard, G., & Omari, T. (2008) Videomanometric evaluation of 

     pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome. Journal of Pediatric 

     Gastroenterology and Nutrition, 46, 87-91.

Shprintzen, R. J. (2008). Velo-cardio-facial syndrome: 30 Years of study. Developmental

     Disabilities Research Reviews, 14(1), 3–10. doi:10.1002/ddrr.2.