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

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