Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion

A microscopic deletion of chromosome 22q11.2 has been identified in most pa tients with the DiGeorge, velocardiofacial syndrome, conotruncal anomaly fa ce syndrome, and in some patients with isolated conotruncal cardiac anomali es. This study presents the neurodevelopmental outcome, including cognitive development, language development, speech, neuromuscular development, and behavioral characteristics of 40 preschool children (ages 13 to 63 months) who have been diagnosed with the 22q11.2 deletion. The impact of cardiac di sease, cardiac surgery, and the palatal anomalies on this population was al so studied. In the preschool years, children with a 22q11,2 deletion are mo st commonly found to be developmentally delayed, have mild hypotonia, and l anguage and speech delays. The more significantly delayed children are at h igh risk to be subsequently diagnosed with mild or moderate mental retardat ion. The global delays and the variations in intelligence found are directl y associated with the 22q11,2 deletion and are not explained by physical an omalies such as palatal defects or cardiac defects, or therapeutic interven tions such as cardiac surgery. Our findings demonstrate that there is a pat tern of significant speech disorders within this population. All of the chi ldren had late onset of verbal speech. Behavioral outcomes included both in hibition and attention disorders. Early intervention services are strongly recommended beginning in infancy to address the delays in gross motor skill s, speech and language, and global developmental delays, Am. J, Med, Genet, 85:127-133, 1999, (C) 1999 Wiley-Liss, Inc.