Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion.
OBJECTIVE
The purpose of this study is to review the neurodevelopmental outcome 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 mos) with the 22q11.2 deletion were assessed using standardized tests (Bayley Scales of Infant Development-II, Preschool Language Scales, Wechsler Preschool and Primary Scales of Intelligence-Revised).


RESULTS
Fifty-four percent of the children were significantly delayed, 24% had mild delay, 22% had average cognitive development, and 80% were below average in language development. Delays are not explained by cardiac defects or palatal defects.


CONCLUSIONS
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 22q11.2 deletion.
Gerdes
M
M
Department of Pediatric Psychology, Children's Seashore House of the Children's Hospital of Philadelphia, Pennsylvania 19104-4399, USA.
Solot
C
C
Wang
P P
PP
McDonald-McGinn
D M
DM
Zackai
E H
EH
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002658:Developmental Disabilities / Q000175:diagnosis; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D011581:Psychological Tests; D013577:Syndrome