Understanding Velo-Cardio-Facial Syndrome (VCFS)

Related: VCFS

by Dr. Robert Shprintzen
Tuesday, March 24, 2009

Speech problems - severe speech problems also occur in approximately 70% of children with VCFS. First words in babies with VCFS are typically slightly delayed with the average being 19 months compared to 12 months in the general population. Once speech begins, it is often unintelligible. One of the major issues is severe hypernasality where most speech sounds inappropriately come out of the nose instead of the mouth. This pattern of speech is also accompanied by abnormal articulation known as compensatory articulation pattern. In some cases, children with VCFS are born with obvious clefts of the palate, but it is more common or abnormalities of the palate to be more subtle and sometimes difficult to detect. It is important to recognize these early speech problems so that appropriate treatment and parental guidance can prevent the development of severe problems. Solving the articulation problems requires direct therapy with speech sounds and teaching the child to produce the sound correctly in the mouth. Some therapists try an approach known as oral motor therapy. This type of therapy should not be applied in children with VCFS at any age. The issue of hypernasality is most often treated surgically and the outcomes from these types of operations are very good. The most common operation performed in children with VCFS is called a pharyngeal flap, an operation that rearranges the tissue in the back of the throat. This type of operation typically requires several days in the hospital and is often followed by a period of speech therapy. In almost all cases, children with VCFS should have normal speech with appropriate treatment.

Feeding problems - early feeding problems in VCFS can be quite vexing and a source of major concern. A very common early problem is spitting up or vomiting through the nose. Although this phenomenon is often referred to as reflux, it is not. This type of spitting up has a number of possible causes including vascular compression of the esophagus, overfilling of the stomach with slow emptying, and chronic constipation. In many cases, x-ray studies of swallowing, referred to as barium swallows or modified barium swallows or performed to assess the problem. In most cases these studies are unnecessary and potentially risky because they expose the child to levels of radiation that should be avoided. Understanding the nature of the anatomic and feeding problems associated with VCFS will help to guide the feeding process more effectively. Another part of the problem is that children with VCFS grow differently than children do not have VCFS. Children with VCFS are often compared to the CDC growth charts that have been developed based on the normal population. However, children with VCFS follow a different growth velocity and should not be compared to these charts. New charts have been developed specific to VCFS and are available in a number of publications listed at the end of this section. Because children with VCFS grow at a slower pace than other children in early childhood, they are caloric demands are not as great. Furthermore, the proportion of weight to height is different in VCFS than in other children because of reduced muscle tissue. Therefore, it is important not to overfeed children with VCFS, a situation that can make children unhappy and parents frustrated. In some cases, feeding problems are caused by congenital heart disease, but these problems should disappear once definitive heart repair has been accomplished.