J Clin Neurol.  2016 Jan;12(1):85-92. 10.3988/jcn.2016.12.1.85.

Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome

• Kim EH
• Yum MS
• Lee BH
• Kim HW
• Lee HJ
• Kim GH
• Lee YJ
• Yoo HW
• Ko TS

• KMID: 2364924
• DOI: http://doi.org/10.3988/jcn.2016.12.1.85

Abstract

BACKGROUND AND PURPOSE
22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. Epilepsy and other neuropsychiatric (NP) manifestations of this genetic syndrome are not uncommon, but they are also not well-understood. We sought to identify the characteristics of epilepsy and other associated NP manifestations in patients with 22q11.2DS.
METHODS
We retrospectively analyzed the medical records of 145 child and adolescent patients (72 males and 73 females) with genetically diagnosed 22q11.2DS. The clinical data included seizures, growth chart, psychological reports, development characteristics, school performance, other clinical manifestations, and laboratory findings.
RESULTS
Of the 145 patients with 22q11.2DS, 22 (15.2%) had epileptic seizures, 15 (10.3%) had developmental delay, and 5 (3.4%) had a psychiatric illness. Twelve patients with epilepsy were classified as genetic epilepsy whereas the remaining were classified as structural, including three with malformations of cortical development. Patients with epilepsy were more likely to display developmental delay (odds ratio=3.98; 95% confidence interval=1.5-10.5; p=0.005), and developmental delay was more common in patients with structural epilepsy than in those with genetic epilepsy.
CONCLUSIONS
Patients with 22q11.2DS have a high risk of epilepsy, which in these cases is closely related to other NP manifestations. This implies that this specific genetic locus is critically linked to neurodevelopment and epileptogenesis.

Keyword

chromosome 22q11.2 deletion syndrome; distal; neurological manifestation; epilepsy; mental disorders

MeSH Terms

Adolescent*
Child*
DiGeorge Syndrome*
Epilepsy*
Genetic Loci
Growth Charts
Humans
Male
Malformations of Cortical Development
Medical Records
Mental Disorders
Neurologic Manifestations
Retrospective Studies
Seizures

Figure

• 

  Fig. 1 Presenting phenotypes in the 145 children and adolescents with 22q11.2 deletion syndrome (22q11.2DS) analyzed in this study. A: Phenotypic features and their frequency at study enrollment. The overall neuropsychiatric (NP) phenotype (n=65, 44.8%) displayed a high frequency, following facial dysmorphism (n=138, 95.2%) and congenital heart disease (n=114, 78.6%). The common NP phenotypes included developmental delay, epilepsy, and psychiatric disorders. B: Distinct and overlapping NP phenotypes in 66 children in the current study cohort with 22q11.2DS. ADHD: attention-deficit/hyperactivity disorder.

• 

  Fig. 2 Brain magnetic resonance imaging (MRI) of three study patients with congenital CNS anomalies. A: A T2-weighted axial image of a 6-month-old patient showing extensive polymicrogyria bilaterally in the frontoparietal lobes. B: A T1-weighted coronal image of a 3-year-old patient demonstrating left periventricular heterotopia (arrow), and a blurred lesion in the interface between gray and white matter and a cystic lesion in the right temporal lobe (arrowhead). C: Cervical spine MRI of a 16-year-old patient showing herniation of the cerebellar tonsil (arrow) and syringomyelia at the C6-7 level (circle), which are diagnostic of a Chiari malformation. CNS: central nervous system.

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