A Multimodal Assessment of Adults with Dravet Syndrome
Abstract number :
3.451
Submission category :
11. Behavior/Neuropsychology/Language / 11A. Adult
Year :
2022
Submission ID :
2233044
Source :
www.aesnet.org
Presentation date :
12/5/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:29 AM
Authors :
Quratulain Zulfiqar Ali, MD – Toronto Western Hospital; Arunan Selvarajah, MSc – Research Assistant, Neurology, University of Toronto; Paula Marques, MD – Clinical Fellow, Neurology, Toronto Western Hospital, University of Toronto; Andrea Sabo, MSc – University of Toronto; Carolina Gorodetsky, MD – Pediatric Neurologist, Toronto Western Hospital, Hospital for Sick Children; Farah Qaiser, MSc – Toronto Western Hospital; Monica Duong, BSc – Toronto Western Hospital; Karen Barboza, BSc – Toronto Western Hospital; Anum Ali, MSc – Toronto Western Hospital; Mary Pat McAndrews, Ph.D., C.Psych. – Toronto Western Hospital; Carmela Tartaglia, M.D., FRCPC – Toronto Western Hospital, University of Toronto; Mary Anne Meskis, Executive Director – Dravet Syndrome Foundation; Nicole Villas, M Ed – Dravet Syndrome Foundation; Veronica Hood, PhD – Dravet Syndrome Foundation; Linda Huh, MD – BC Children's Hospital; Arezoo Rezazadeh, MD – University of Ottawa; Tadeu Fantaneau, MD – University of Ottawa; Linda Lomax, MD – Kingston General Hospital; Luciana Inuzuka Nakaharada, MD, MSc – São Paulo Integrated Neurology Institute; Mariana Espindola, MD – São Paulo no Instituto de Neurologia; Eliana Garzon, MD – INISP - Instituto de Neurologia Integrada de São Paulo; Marta González, PhD – Fundación Síndrome de Dravet; Christine Linehan, BA, MA, MPH, DipStat, PhD, CPsycholPsSI, FRSPH – University College Dublin; Elena Cardenal-Muñoz, PhD – Fundación Síndrome de Dravet; Jose Angel Aiba, CEO – Fundación Síndrome de Dravet; Sophine Hohn, Cognition and Behaviour Department – Institut des Neurosciences Paris-Saclay (Neuro-PSI); Lauraine McKenna, Pharm D – Fundación Síndrome de Dravet; Mary Connolly, FRCP, MBBCH – BC Children's Hospital; Stéphane Auvin, MD, PhD – Paris-Diderot University & Robert-Debré University Hospital; Orrin Devinsky, MD – NYU Langone Health; Anne Berg, PhD – Ann and Robert H. Lurie Children's Hospital of Chicago; Babak Taati, MD – Toronto Western Hospital; Alfonso Fasano, MD – Toronto Western Hospital; Danielle Andrade, MD, MSc, FRCPC, CSCN (EEG) – Toronto Western Hospital, University of Toronto
This is a Late-Breaking abstract.
Rationale: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy. Caregivers of adult patients with DS often complain about the loss of previously acquired skills such as their verbal skills, mobility, and capacity to perform activities of daily living. We set out to determine if abnormalities reported are detectable in validated tests, and if there was any correlation between symptoms and previous seizure load through number of episodes of status epilepticus (SE) as well as use of contraindicated medications (CIM).
Methods: This is a cross-sectional, multicenter study. Vinelands Adaptive Behaviour Scales 3rd edition (VABS-III) was used for behavior analyses. Moss-PAS checklist was used to detect potential mental health disorders. Social Communication Questionnaire (SCQ) was used to detect social communication deficits. Parkinsonian features were evaluated using the modified Unified Parkinson’s Disease Rating Scale (mUPDRS). Gait evaluation was done through instrumental gait analysis and validated home-made video gait extraction tools. _x000D_
Results: A total of 90 participants enrolled in the study (age range: 18-51 years, median: 25 years, mean: 27.93 ± 8.59 years) We identified that the receptive (p=0.008), expressive (p=0.01), domestic (p= 0.01), community (p=0.04), and coping skills (p=0.02) are worse in patients with >30 episodes of status epilepticus (SE) before 18 years of age. Longer periods on CIMs were associated with worsening of: receptive (p=0.02), expressive (p=0.004), written (p=0.009), domestic (p=0.04), community (p=0.01), interpersonal relationships (p=0.01), play and leisure (p=0.002), coping (p=0.03), and fine motor (p=0.02) skills. Between 10% and 15% of participants screened positive for organic conditions (12.8%) such as dementia, affective or neurotic disorder in 15.1%, or a psychotic disorder in 10.5%. Seventy seven percent of patients screened positive for a social communication disorder. Parkinsonian manifestations were worse in those with >30 SE episodes before 18 y, and longer periods on CIMs. Regarding gait, we observed a significant difference between the controls and DS for cadence (p=0.0001), step width (p=0.0002), CV step time (p=0.0009), and SI step time (p=0.0172). From the functional mobility scale findings, participants have more difficulty walking short, medium, and long distances compared to their 18-year-old selves.
Conclusions: This large study in adult patients showed that more than 30 episodes of SE before 18 years of age, prolonged use of CIM and old age were associated with worse adaptive skills and parkinsonian manifestations. Old age and more than 30 episodes of SE before age 18 years were associated with worse mobility. A surprisingly high number of patients (77%) tested positive for social communication disorders suggesting that they have autism and should be further tested for that diagnosis. Finally, 10% to 15% of adult patients screened positive for a mental health disorder. Taken together these findings show several comorbidities that adult patients have and deserve further attention in order to improved better quality of life for them as well as their caregivers._x000D_
Funding: Dravet Syndrome Foundation
Behavior