Neurologic challenges in 22q11.2 deletion syndrome
Sarah E Hopkins1, Madeline Chadehumbe1, Terrence Blaine Crowley2
1Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
American Journal of Medical Genetics. Part A
|October 27, 2018
Summary
Children with 22q11.2 deletion syndrome frequently show neurologic issues. Understanding typical development helps identify complications like epilepsy and brain malformations early for better management.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- 22q11.2 deletion syndrome is associated with a high incidence of neurological dysfunction in children.
- Recognizing expected neurologic development is crucial for early detection of potential complications.
Purpose of the Study:
- To update on brain imaging findings in 22q11.2 deletion syndrome.
- To review current literature on neurological complications.
- To outline current management strategies for neurological issues.
Main Methods:
- Review of brain imaging findings from the CHOP 22q and You Center.
- Comprehensive literature review on neurological aspects of 22q11.2 deletion syndrome.
- Analysis of current clinical management practices.
Main Results:
- Children with 22q11.2 deletion syndrome present with diverse neurological symptoms.
- Common complications include cortical malformations, tethered cord, epilepsy, and movement disorders.
- Updated imaging findings and management protocols are presented.
Conclusions:
- Early identification and understanding of neurological development are key for managing 22q11.2 deletion syndrome.
- Multidisciplinary care is essential for addressing the complex neurological needs of these patients.
- Ongoing research and updated practices improve patient outcomes.
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