Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Epilepsy and seizures in young people with 22q11.2 deletion syndrome: prevalence and links with other neurodevelopmental disorders

Eaton, Christopher ORCID:, Thomas, Rhys ORCID:, Hamandi, Khalid, Payne, Gareth, Kerr, Michael, Linden, David, Owen, Michael ORCID:, Cunningham, Adam, Bartsch, Ullrich, Struik, Siske and van den Bree, Marianne ORCID: 2019. Epilepsy and seizures in young people with 22q11.2 deletion syndrome: prevalence and links with other neurodevelopmental disorders. Epilepsia 60 (5) , pp. 818-829. 10.1111/epi.14722

[thumbnail of Eaton_CB_Thomas_RH_Hamandi_K_et_al._Epilepsy_and_seizures_in_young_people_with_22q11.2_deletion_syndrome.pdf]
PDF - Published Version
Available under License Creative Commons Attribution.

Download (695kB) | Preview
License URL:
License Start date: 11 April 2019


Objective The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2DS) is unknown, because previous studies have relied on historical medical record review. Associations of epilepsy with other neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored. Methods The primary caregivers of 108 deletion carriers (mean age 13.6 years) and 60 control siblings (mean age 13.1 years) completed a validated epilepsy screening questionnaire. A subsample (n = 44) underwent a second assessment with interview, prolonged electroencephalography (EEG), and medical record and epileptologist review. Intelligence quotient (IQ), psychopathology, and other neurodevelopmental problems were examined using neurocognitive assessment and questionnaire/interview. Results Eleven percent (12/108) of deletion carriers had an epilepsy diagnosis (controls 0%, P = 0.004). Fifty‐seven of the remaining 96 deletion carriers (59.4%) had seizures or seizurelike symptoms (controls 13.3%, 8/60, P < 0.001). A febrile seizure was reported for 24.1% (26/107) of cases (controls 0%, P < 0.001). One deletion carrier with a clinical history of epilepsy was diagnosed with an additional type of unprovoked seizure during the second assessment. One deletion carrier was newly diagnosed with epilepsy, and two more with possible nonmotor absence seizures. A positive screen on the epilepsy questionnaire was more likely in deletion carriers with lower performance IQ (odds ratio [OR] 0.96, P = 0.018), attention‐deficit/hyperactivity disorder (ADHD) (OR 3.28, P = 0.021), autism symptoms (OR 3.86, P = 0.004), and indicative motor coordination disorder (OR 4.56, P = 0.021). Significance Even when accounting for deletion carriers diagnosed with epilepsy, reports of seizures and seizurelike symptoms are common. These may be “true” epileptic seizures in some cases, which are not recognized during routine clinical care. Febrile seizures were far more common in deletion carriers compared to known population risk. A propensity for seizures in 22q11.2DS was associated with cognitive impairment, psychopathology, and motor coordination problems. Future research is required to determine whether this reflects common neurobiologic risk pathways or is a consequence of recurrent seizures.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Cardiff University Brain Research Imaging Centre (CUBRIC)
Publisher: Wiley
ISSN: 0013-9580
Date of First Compliant Deposit: 25 March 2019
Date of Acceptance: 14 March 2019
Last Modified: 11 Oct 2023 16:48

Citation Data

Cited 21 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item


Downloads per month over past year

View more statistics