PMID- 38219604
OWN - NLM
STAT- MEDLINE
DCOM- 20240214
LR  - 20240214
IS  - 1525-5069 (Electronic)
IS  - 1525-5050 (Linking)
VI  - 151
DP  - 2024 Feb
TI  - Adaptive functioning and neurodevelopment in patients with Dravet syndrome: 
      12-month interim analysis of the BUTTERFLY observational study.
PG  - 109604
LID - S1525-5050(23)00523-1 [pii]
LID - 10.1016/j.yebeh.2023.109604 [doi]
AB  - OBJECTIVE: The BUTTERFLY observational study aims to elucidate the natural 
      trajectory of Dravet syndrome (DS) and associated comorbidities in order to 
      establish a baseline for clinical therapies. We present the 12-month interim 
      analysis of the study. MATERIALS AND METHODS: Patients with a genetically 
      confirmed diagnosis of DS were enrolled in the study. Adaptive functioning and 
      neurodevelopmental status were measured using the Vineland Adaptive Behavior 
      Scale, Third Edition (Vineland-III), Bayley Scales of Infant Development, Third 
      Edition (BSID-III), and Wechsler Preschool and Primary Scale of Intelligence, 
      Fourth Edition (WPPSI-IV). Executive function, ambulatory function and locomotor 
      activities, and overall clinical status were measured using the Behavior Rating 
      Inventory of Executive Function - Preschool Version (BRIEF-P) scale, Gillette 
      Functional Assessment Questionnaire (Gillette FAQ), and Clinician or Caregiver 
      Global Impression of Change scales (CGI-C or CaGI-C) respectively. RESULTS: 
      Overall, 36 patients were enrolled across three age groups, with 35 patients 
      completing at least part or all of one post-baseline visit through Month 12. 
      Significant improvements in receptive communication, as assessed by Vineland-III 
      and BSID-III raw scores, and in verbal comprehension subtests, as assessed by 
      WPPSI-IV raw scores, were observed in BUTTERFLY patients for the all-patient 
      group. Many patients performed on the impaired end of the BRIEF-P Global 
      Executive Composite scale at baseline suggesting difficulties in executive 
      function, and no significant change was observed in BRIEF-P scores for the 
      all-patient group. Most patients performed in the dynamic range of the Gillette 
      FAQ at baseline, and no significant change was observed in Gillette FAQ scores 
      for the all-patient group. Lastly, there was significant improvement observed in 
      the CaGI-C scores for the all-patient group. SIGNIFICANCE: This BUTTERFLY interim 
      analysis shows small improvements in communication skills along with stability in 
      other developmental abilities across patients with DS enrolled in the study from 
      baseline to Month 12.
CI  - Copyright (c) 2024 The Authors. Published by Elsevier Inc. All rights reserved.
FAU - Sullivan, Joseph
AU  - Sullivan J
AD  - University of California, San Francisco, CA, USA. Electronic address: 
      joseph.sullivan@ucsf.edu.
FAU - Wirrell, Elaine
AU  - Wirrell E
AD  - Mayo Clinic, Rochester, MN, USA. Electronic address: Wirrell.Elaine@mayo.edu.
FAU - Knupp, Kelly G
AU  - Knupp KG
AD  - University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic 
      address: Kelly.Knupp@childrenscolorado.org.
FAU - Chen, Dillon
AU  - Chen D
AD  - University of California, San Diego, CA, USA. Electronic address: 
      dyc017@health.ucsd.edu.
FAU - Flamini, Robert
AU  - Flamini R
AD  - Panda Neurology, Atlanta, GA, USA. Electronic address: rflamini@pandaneuro.com.
FAU - Zafar, Muhammad
AU  - Zafar M
AD  - Duke University, Durham, NC, USA. Electronic address: muhammad.zafar@duke.edu.
FAU - Ventola, Pam
AU  - Ventola P
AD  - Cogstate Ltd., New Haven, CT, USA. Electronic address: pventola@cogstate.com.
FAU - Avendano, Javier
AU  - Avendano J
AD  - Stoke Therapeutics, Bedford, MA, USA. Electronic address: javendano@gmail.com.
FAU - Wang, Fei
AU  - Wang F
AD  - Stoke Therapeutics, Bedford, MA, USA. Electronic address: 
      fwang@stoketherapeutics.com.
FAU - Parkerson, Kimberly A
AU  - Parkerson KA
AD  - Stoke Therapeutics, Bedford, MA, USA. Electronic address: 
      kparkerson@stoketherapeutics.com.
FAU - Ticho, Barry
AU  - Ticho B
AD  - Stoke Therapeutics, Bedford, MA, USA. Electronic address: 
      bticho@stoketherapeutics.com.
LA  - eng
PT  - Journal Article
DEP - 20240113
PL  - United States
TA  - Epilepsy Behav
JT  - Epilepsy & behavior : E&B
JID - 100892858
SB  - IM
MH  - Child, Preschool
MH  - Humans
MH  - Infant
MH  - Communication
MH  - *Epilepsies, Myoclonic
MH  - *Executive Function
MH  - Wechsler Scales
MH  - Observational Studies as Topic
OTO - NOTNLM
OT  - BRIEF-P
OT  - CGI-C
OT  - Cognition
OT  - Executive function
OT  - Gillette FAQ
OT  - Locomotor activities
COIS- Declaration of competing interest The authors declare that they have no known 
      competing financial interests or personal relationships that could have appeared 
      to influence the work reported in this paper.
EDAT- 2024/01/15 00:41
MHDA- 2024/02/08 18:42
CRDT- 2024/01/14 18:15
PHST- 2023/08/18 00:00 [received]
PHST- 2023/12/15 00:00 [revised]
PHST- 2023/12/21 00:00 [accepted]
PHST- 2024/02/08 18:42 [medline]
PHST- 2024/01/15 00:41 [pubmed]
PHST- 2024/01/14 18:15 [entrez]
AID - S1525-5050(23)00523-1 [pii]
AID - 10.1016/j.yebeh.2023.109604 [doi]
PST - ppublish
SO  - Epilepsy Behav. 2024 Feb;151:109604. doi: 10.1016/j.yebeh.2023.109604. Epub 2024 
      Jan 13.