2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Seizures in trisomy 18: prevalence, description, and treatment

Pdf Summary

Seizures are a common occurrence in individuals with trisomy 18, affecting around 30% of people with the condition. These seizures can be generalized or focal and are typically managed with anti-epileptic medications, although these medications may have side effects. Infantile spasms, a specific type of seizure, occurred in 12% of children with trisomy 18, and half of these children went on to develop epilepsy. Interestingly, brain malformations did not correlate with the presence of seizures. However, central apnea, a breathing disorder, was found to be associated with seizures, suggesting a potential link between the two conditions.<br /><br />Trisomy 18, also known as Edwards syndrome, is the second most common autosomal chromosomal anomaly at birth, occurring in approximately 1 in 500 births. It is associated with significant congenital malformations, high neonatal and infant mortality rates, and severe developmental disabilities. However, advancements in medical interventions and parental advocacy in recent years have led to improved outcomes for individuals with trisomy 18.<br /><br />This study aimed to determine the prevalence of seizures in individuals with trisomy 18, describe the types of seizures and co-occurring conditions, and identify the anti-seizure medications used. Data was collected from a database of surveys completed by parents of individuals with trisomy 18. The results showed that 28% of participants reported seizures, with a variety of seizure types observed. Infantile spasms and structural brain malformations were also reported in a subset of individuals. The study found that anti-seizure medications such as levetiracetam and valproic acid were commonly used, but some adverse events were reported.<br /><br />The findings of this study highlight the importance of monitoring and managing seizures in individuals with trisomy 18. Further research is needed to understand the relationship between seizures and other factors such as age, EEG patterns, and the development of intractable epilepsy. Additionally, the utility of MRI and EEG in predicting outcomes and identifying the most effective treatment approaches should be investigated. The establishment of an international registry to collect medical data and facilitate participation in future studies is also recommended.

Asset Subtitle

Presenting Author - John C. Carey, MD; Co-Author - Sue L. Jaspersen, genetic counseling student; Co-Author - Meghan S. Candee, MD, child neurolgy; Co-Author - Agatino Battaglia, MD, child neurology; Co-Author - Deborah A. Bruns, Professor, Special Education; Co-Author - Kristen P. Fishler, MS, CGC;

Meta Tag

Chromosomal Abnormalities

Cognitive Disorders

Delineation of Diseases

Natural History

Co-Author Sue L. Jaspersen, genetic counseling student

Co-Author Meghan S. Candee, MD, child neurolgy

Co-Author Agatino Battaglia, MD, child neurology

Co-Author Deborah A. Bruns, Professor, Special Education

Co-Author Kristen P. Fishler, MS, CGC

Presenting Author John C. Carey, MD

Keywords

seizures

trisomy 18

anti-epileptic medications

infantile spasms

epilepsy

brain malformations

central apnea

Edwards syndrome

congenital malformations

anti-seizure medications