In their earliest description of velo-cardio-facial syndrome, Shprintzen et al. (1978) reported “A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities.” Therefore, in addition to the physical abnormalities described in previous chapters, the brain is also very commonly involved in VCFS and this involvement was recognized in some of the earliest descriptions of this syndrome. In Chapter 8, Campbell and Swillen discuss how such involvement leads to characteristic cognitive profiles in VCFS while in Chapter 9, Eliez and van Amelsvoort discuss the brain structural abnormalities observed using magnetic resonance imaging in children and adults with VCFS. In this chapter, we will discuss another component of the behavioral phenotype in VCFS, namely, the high rates of behavioral and psychiatric disorder seen in VCFS children and adults.

Behavioral and psychiatric disorder in children with VCFS

There have been relatively few studies of behavioral and psychiatric disorder in children or adults with VCFS. Moreover, many are confounded by methodological constraints including lack of operational criteria for psychiatric diagnosis, sample heterogeneity (with children and adults included in the same sample), small sample size, and lack of control groups. Nevertheless, several common behavioral and temperamental features have been reported in studies of children and adolescents with VCFS. These include a stereotypic personality with poor social interaction (quantitatively and qualitatively), a bland affect with minimal facial expression and extremes of behavior, notably uninhibited and impulsive or serious and shy (Golding-Kushner et al., 1985; Swillen et al., 1997).