Dravet syndrome: From neurodevelopmental to neurodegenerative disease?

被引：0

作者：

Selvarajah, Arunan ^{[1
]}

Sabo, Andrea ^{[2
]}

Gorodetsky, Carolina ^{[3
]}

Marques, Paula T. ^{[1
]}

Chandran, Ilakkiah ^{[1
,4
]}

Thompson, Miles ^{[1
]}

Zulfiqar Ali, Quratulain ^{[4
]}

Mcandrews, Mary Pat ^{[5
]}

Tartaglia, Maria Carmela ^{[6
]}

Lira, Victor S. T. ^{[7
]}

Huh, Linda ^{[8
]}

Connolly, Mary ^{[8
]}

Rezazadeh, Arezoo ^{[9
]}

Qaiser, Farah ^{[4
]}

Fantaneanu, Tadeu A. ^{[9
]}

Duong, Monica ^{[1
]}

Barboza, Karen ^{[7
]}

Lomax, Lysa Boisse ^{[10
]}

Inuzuka Nakaharada, Luciana ^{[11
]}

Valente, Kette ^{[12
]}

Arbinuch, Jack ^{[13
]}

Espindola, Mariana ^{[14
]}

Garzon, Eliana ^{[15
]}

Sorrento, Gianluca ^{[16
,17
]}

Meskis, Mary Anne ^{[18
]}

Villas, Nicole ^{[18
]}

Hood, Veronica ^{[18
]}

Gonzalez, Marta ^{[19
]}

Cardenal-Munoz, Elena ^{[19
]}

Aiba, Jose Angel ^{[19
]}

Mckenna, Lauraine ^{[19
]}

Linehan, Christine ^{[20
]}

Hohn, Sophine ^{[21
]}

Auvin, Stephane ^{[22
]}

Devinsky, Orrin ^{[23
]}

Yuen, Ryan ^{[24
]}

Berg, Anne T. ^{[25
,26
]}

Taati, Babak ^{[2
]}

Fasano, Alfonso ^{[27
,28
]}

Andrade, Danielle M. ^{[1
,4
,29
]}

机构：

[1] Univ Toronto, Toronto Western Hosp, Krembil Res Inst, Adult Genet Epilepsy Program,Div Neurol, Toronto, ON, Canada

[2] Univ Toronto, Univ Hlth Network, Kite Res Inst, Toronto, ON, Canada

[3] Univ Toronto, Hosp Sick Children, Div Neurol, Toronto, ON, Canada

[4] Univ Toronto, Inst Med Sci, Toronto, ON, Canada

[5] Univ Toronto, Univ Hlth Network, Krembil Res Inst, Div Brain Imaging & Behav,Dept Neuropsychol, Toronto, ON, Canada

[6] Toronto Western Hosp, Toronto Western Hosp, Div Neurol, Dept Med,Krembil Neurosci Ctr, Toronto, ON, Canada

[7] Univ Toronto, Div Neurol, Adult Genet Epilepsy Program, Adult Genet Epilepsy Program,Div Neurol, Toronto, ON, Canada

[8] Univ British Columbia, British Columbia Childrens Hosp, Dept Pediat, Div Neurol, Vancouver, BC, Canada

[9] Univ Ottawa, Ottawa Hosp, Div Neurol, Ottawa, ON, Canada

[10] Univ Kingston, Kingston Gen Hosp, Div Neurol, Kingston, ON, Canada

[11] Sao Paulo Integrated Neurol Inst, Sao Paulo, Brazil

[12] Univ Sao Paulo, Fac Med, Hosp Clin, Fac Med, Sao Paulo, Brazil

[13] Univ Oklahoma, David & Judi Proctor Dept Math, Norman, OK USA

[14] Sao Paulo Inst Neurol, Sao Paulo, Brazil

[15] Univ Sao Paulo, Sao Paulo, Brazil

[16] Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, UHN, Toronto, ON M5T 2S8, Canada

[17] Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Ctr, UHN, Toronto, ON, Canada

[18] Dravet Syndrome Fdn, Cherry Hill, NJ USA

[19] Dravet Syndrome Fdn, Madrid, Spain

[20] Univ Coll Dublin, Sch Psychol, Dublin, Ireland

[21] Inst Neurosci Paris Saclay, Cognit & Behav Dept, Gif Sur Yvette, France

[22] Univ Paris 07, Hop Robert Debre, Dept Immunol, Paris, France

[23] New York Univ Langone, Med Ctr, Comprehens Epilepsy Ctr, New York, NY USA

[24] Hosp Sick Children, Genet & Genome Biol, Dept Mol Genet Genet & Genome Biol, Toronto, ON, Canada

[25] Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Northwestern Feinberg Sch Med, Chicago, IL USA

[26] Northwestern Univ, Feinberg Sch Med, Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA

[27] Univ Toronto, Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, Div Neurol,Krembil Neurosci Ctr, Toronto, ON, Canada

[28] Univ Toronto, Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Ctr, Div Neurol,Krembil Neurosci Ctr, Toronto, ON, Canada

[29] Univ Toronto, Toronto Western Hosp, Inst Med Sci, Div Neurol,Epilepsy Program,Krembil Res Inst, Toronto, ON, Canada

来源：

EPILEPSIA | 2025年

关键词：

adult; dementia; Dravet syndrome; natural history; parkinsonism; SCN1A; Neurodegeneration; Accelerated ageing; Sodium channel blockers; ADULTS; AUTISM; GUIDELINES; STANDARDS; DIAGNOSIS; GAIT;

D O I：

10.1111/epi.18329

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

ObjectiveDravet syndrome (DS) is a severe developmental and epileptic encephalopathy caused by SCN1A haploinsufficiency in the majority of cases. Caregivers of adults with DS often complain about the loss of previously acquired skills. We set out to explore these perceptions and determine whether abnormalities reported were detectable in validated tests. We also investigated possible correlations between symptoms, age, and exposure to sodium channel blockers (SCBs). MethodsThis cross-sectional, multicenter study used the Vineland Adaptive Behavior Scales, 3rd edition (raw scores) for behavior analyses and Moss-Psychiatric Assessment Schedules checklist to screen for psychiatric symptoms. The Social Communication Questionnaire screened for social communication deficits. Parkinsonian features were evaluated with the modified Unified Parkinson's Disease Rating Scale. For gait evaluation, we validated the use of home videos, using instrumental gait analysis in a subgroup of patients, and then used the home videos for the remainder. ResultsA total of 92 patients were enrolled (age range = 18-51 years, mean = 27.93 +/- 8.59 years). Sixty percent of caregivers observed a decline in previously acquired skills, including intelligence, speech, interaction with others, ability to climb stairs and walk without support, and hand coordination. Adaptive skills, parkinsonian symptoms, and gait were worse in older patients and those exposed to SCBs for longer periods of time. Fourteen percent of patients screened positive for affective disorders, 11.6% for dementia, and 10.5% for a psychotic disorder. Fifty-three percent screened positive for social communication deficits. SignificanceThis is the largest group of adults with DS to be systematically evaluated. They had severe nonseizure symptoms. Older age and longer use of SCBs were associated with worse adaptive skills, gait, and parkinsonism. Some older adults screened positive for depression and dementia. Caregivers identified functional decline in activities of daily living (ADLs). Taken together, the risk of dementia, parkinsonian gait, and decline in ability to perform previously mastered ADLs support that some adults with DS may be developing a neurodegenerative disorder.

引用

页数：13

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