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

Abstract

Purpose: 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, WechslerPreschool 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. Conclusion: 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. Genetics in Medicine, 2001:3(1):40 -44.

Newborn screening programs: Should 22q11 deletion syndrome be added?

“…33 Learning disability is frequently found, especially nonverbal learning disorder, though there is variation in the type and extent of learning disability. 26,33,40 Further complicating learning and school performance is the fact that attention deficit hyperactivity disorder (ADHD) is more common in 22q11DS patients than in the general population. One study found that ADHD occurs in about 30% of patients with 22q11DS.…”

“…For example, learning problems are a nearly uniform feature of the syndrome, and early intervention is important in bringing about the best possible outcome. 40 Early intervention services are appropriate for ensuring that these patients reach their highest potential, and a screening test could help make sure that all affected individuals are included in these programs. A definitive diagnosis may also be helpful in securing appropriate special education services for these children as they enter higher grades.…”

High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups

“…This fact is even more relevant if one takes into account the potential benefit of preventive measures that could be applied if such a diagnosis were defined (12).…”

“…In particular, facial features may not be apparent in infants, renal findings are not evident upon routine examination (10), and the characteristic speech and learning difficulties typically do not become clear until beyond infancy (11). Therefore, an early diagnosis of a 22q11 deletion in infants with congenital cardiovascular disease allows for early detection of associated noncardiac features, as well as appropriate genetic counseling (9,12). These findings broaden the classical indications for testing, warranting screening for 22q11.2 deletion in infants with sporadic congenital heart disease as well.…”

Motor development in school‐aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome)

“…Children with a del22q11 commonly have learning difficulties, 3,4 speech-language problems, 5,6 and an attention-deficit disorder. 7 Previous studies reported deficits in the acquisition of gross motor skills (crawling and walking independently) [8][9][10][11] and problems with balance and coordination. 3,11,12 In a recent study by Swillen et al, 13 the motor development of young children (aged between 2 and 5y) with del22q11 and a CHD was compared with a control group of children without a del22q11 matched for age and type of CHD.…”