Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Purpose: The purpose of this study is to review the neurodevelopmental outc ome of infants and preschoolers with a 22q11.2 microdeletion and to discuss the our clinical observations of clinical implications for educational and therapeutic interventions. Methods: One hundred twelve children (4 to 70 m os) with the 22q11.2 deletion were assessed using standardized tests (Bayle y Scales of Infant Development-II, Preschool Language Scales, Wechsler Pres chool and Primary Scales of Intelligence-Revised). Results: Fifty-four perc ent of the children were significantly delayed, 24% had mild delay, 22% had average cognitive development, and 80% were below average in language deve lopment. Delays are not explained by cardiac defects or palatal defects. Co nclusion: Developmental delays, mild hypotonia, language and speech delays, and feeding disorders are common, and this finding indicates the need for early intervention services beginning in infancy for children with the 22q1 1.2 deletion.