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Published on: February 21, 2015
Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion
1Department of Pediatric Psychology, Children's Seashore House of the Children's Hospital of Philadelphia, Pennsylvania 19104-4399, USA.
Insights
Children with 22q11.2 deletion syndrome often experience developmental delays, particularly in language. Early intervention services are crucial for these infants and preschoolers to address common issues like hypotonia and feeding disorders.
Area of Science:
- Neurodevelopmental disorders
- Genetics
- Pediatric medicine
Background:
- 22q11.2 deletion syndrome is a common genetic disorder.
- It is associated with a range of developmental challenges.
- Understanding neurodevelopmental outcomes is critical for early intervention.
Purpose of the Study:
- To review the neurodevelopmental outcomes in infants and preschoolers with 22q11.2 microdeletion.
- To discuss clinical observations and implications for educational and therapeutic interventions.
Main Methods:
- Assessed 112 children (4-70 months) with 22q11.2 deletion.
- Utilized standardized tests: Bayley Scales of Infant Development-II, Preschool Language Scales, and Wechsler Preschool and Primary Scales of Intelligence-Revised.
Main Results:
- 54% of children showed significant developmental delay; 24% had mild delay.
- 80% exhibited below-average language development.
- Delays were not correlated with cardiac or palatal defects.
Conclusions:
- Developmental delays, hypotonia, speech/language impairments, and feeding disorders are prevalent in 22q11.2 deletion.
- Early intervention services, starting in infancy, are essential.
- This highlights the need for targeted support for affected children.
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, 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.
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.
