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Epilepsy in classic...
Epilepsy in classic Rett syndrome: Course and characteristics in adult age
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Henriksen, M. W. (författare)
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Breck, H. (författare)
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von Tetzchner, S. (författare)
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Paus, B. (författare)
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- Skjeldal, Ola H. (författare)
- Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre
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Brodtkorb, E. (författare)
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(creator_code:org_t)
- Elsevier BV, 2018
- 2018
- Engelska.
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Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211. ; 145, s. 134-139
- Relaterad länk:
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https://www.duo.uio....
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Ämnesord
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- Purpose: Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females. Epilepsy is a major clinical feature, but its long-term course in RTT has not been sufficiently explored. This study addresses the development of the epilepsy in adults with KIT. Methods: Available females diagnosed with RTT in Norway were asked to participate. Parents/caregivers were interviewed, the girls/women were examined and their medical records reviewed. Participants were categorized according to age, epilepsy, seizure patterns and mutation severity groups. RTT severity was assessed (epilepsy score excluded). Results: 70 females with classic RTT were included. A presumed pathogenic mutation in MECP2 was found in 96%. The presence of active epilepsy (seizures last five years) was similar in all age groups above the age of ten: 11 (65%) in adolescents (11-20 years), 9 (60%) in young adults (21-30 years) and 14 (67%) in participants above 30 years of age. Tonic-clonic seizures within the last year were present in 55, 67 and 64%, and >= weekly seizures occurred in 27, 45 and 50% in the respective age groups. Among participants with active epilepsy, 69% had unremitting seizures, whereas 31% had experienced remissions for more than six months during the last five years. In the oldest group ( > 30 years), only 19% had obtained seizure control for > 5 years, and 14% had never experienced seizures. Seizure activity correlated with RTT severity score, whereas the relationship to mutation type remained ambiguous. Conclusion: Epilepsy continues to be a major concern in adults with RTT. Two thirds of women above 30 years of age remained with active epilepsy and 50% of them had seizures at least weekly.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Nyckelord
- Rett syndrome
- Epilepsy
- Aging
- Adulthood
- Co-morbidity
- Prognosis
- natural-history
- ilae commission
- position paper
- classification
- epidemiology
- terminology
- disorders
- australia
- survival
- seizures
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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