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Title: Epileptic seizures and epilepsy in young people with 22q11.2 deletion syndrome : prevalence and links with other neurodevelopmental disorders
Author: Eaton, Christopher
ISNI:       0000 0004 7962 1298
Awarding Body: Cardiff University
Current Institution: Cardiff University
Date of Award: 2018
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Young people with 22q11.2 deletion syndrome (22q11.2DS) are at increased risk for acute symptomatic seizures and epilepsy. Their true prevalence may have been underestimated however, as previous studies used medical record reviews,which may have missed non convulsive seizures. In this thesis, I aimed to conduct a 'first hand', systematic assessment of epileptic seizures and epilepsy in young people with 22q11.2DS and their unaffected siblings. Firstly,using a validated epilepsy screening questionnaire (ESQ), completed by the primary caregiver,I found that whilst 11.1% of deletion carriers were reported as having an epilepsy diagnosis, 48.7% had an afebrile seizure or a paroxysmal event without a diagnosis. 21.1% of deletion carriers were reported with febrile seizures. Deletion carriers screening positive to at least one item of the questionnaire were more likely to have psychopathology, motor problems and a lower performance IQ. I then conducted a second stage of assessment with a subsample of deletion carriers and controls,comprising parental and child interviews, review of medical records and a 24Shour EEG assessment. Anepileptologist reviewed these data. In the second stage, all but one of the ESQS reported epilepsy diagnoses were confirmed. One deletion carrier was newly diagnosed with epilepsy. Only 11.8% reported with an afebrile seizure or paroxysmal event were diagnosed with epileptic seizures ('possible' absence seizures). These findings reinforce that young people with 22q11.2DS are at increased risk for acute symptomatic seizures predominantly febrile seizures and epilepsy. I also provide evidence to suggest that epileptic seizures may not be recognised during routine clinical care in some young deletion carriers, and an epilepsy diagnosis may be overlooked. The high rate of febrile seizures suggests a lower seizure threshold in 22q11.2DS. The associations of positive screens with impaired cognition,psychopathology and motor problems may suggest shared neurobiological risk pathways, although false-positives could be a confounding factor.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available