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Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect
Ann Swillen1, Hilde Feys, Tamara Adriaens
1Department of Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium. Ann.Swillen@uz.kuleuven.ac.be
Insights
Children with 22q.11 deletion (22q11DS) show significant delays in early motor development, particularly in locomotion and stationary skills. These motor deficits are not linked to congenital heart defects or behavioral issues.
Area of Science:
- Genetics
- Developmental Pediatrics
- Neuroscience
Background:
- Velocardiofacial syndrome, also known as 22q.11.2 deletion syndrome (22q11DS), is a genetic disorder.
- Early motor development and behavioral patterns are crucial indicators of neurodevelopmental outcomes.
- Congenital heart defects (CHDs) are common in 22q11DS and can independently affect motor skills.
Purpose of the Study:
- To investigate early motor development and behavior in young children with 22q11DS.
- To differentiate motor delays specifically attributable to 22q11DS from those potentially caused by CHDs.
- To assess behavioral characteristics in children with 22q11DS compared to a control group.
Main Methods:
- A cohort of 11 children with 22q11DS and CHDs was compared to 19 children with CHDs but without 22q11DS.
- Motor development was assessed using the Peabody Developmental Motor Scales-2.
- Behavior was evaluated using the Child Behaviour Checklist.
Main Results:
- Children with 22q11DS exhibited significantly lower motor performance scores compared to controls (p<0.05).
- The most pronounced motor deficits in the 22q11DS group were observed in the Locomotion and Stationary subtests.
- A statistically significant difference was found only on the 'Withdrawn' subscale of the behavior questionnaire (p<0.05).
Conclusions:
- Young children with 22q11DS experience significant motor delays.
- These motor delays are not primarily caused by the co-occurring congenital heart defects or specific behavioral patterns.
- Early identification and intervention for motor deficits are important for children with 22q11DS.
Abstract:
Velocardiofacial syndrome is identified by a submicroscopic deletion of chromosome 22q.11 (del22q.11). This study presents data on the early motor development and behaviour of 11 children (8 males, 3 females) with del22q.11 (mean age 41mo, SD 9.7mo) with a congenital heart defect. To control for the impact of the congenital heart defect, a control group of 19 children (15 males, 4 females; mean age 46mo, SD 9mo) with the same types of congenital heart defects but without del22q.11 was selected. Motor development in both groups was measured with the Peabody Developmental Motor Scales-2. Behaviour was assessed with the Child Behaviour Checklist. Children with del22q.11 scored significantly lower (p<0.05) on motor performance than the children of the control group. Most deficient motor skills were found for the subtests Locomotion and Stationary. On the behaviour questionnaire, a statistically significant (p<0.05) difference between the two groups was found only for the subscale Withdrawn. These data reveal a significant motor delay in many young children with del22q.11, which is not caused by the presence of a congenital heart defect or by behavioural features.
