PMID- 36332561
OWN - NLM
STAT- MEDLINE
DCOM- 20221129
LR  - 20230104
IS  - 1525-5069 (Electronic)
IS  - 1525-5050 (Linking)
VI  - 137
IP  - Pt A
DP  - 2022 Dec
TI  - Interim results of adaptive functioning and neurodevelopment in BUTTERFLY - An 
      observational study of children and adolescents with Dravet syndrome.
PG  - 108955
LID - S1525-5050(22)00404-8 [pii]
LID - 10.1016/j.yebeh.2022.108955 [doi]
AB  - PURPOSE: The purpose of this study is to evaluate adaptive functioning and 
      neurodevelopment study assessments in a prospective study of patients with Dravet 
      syndrome (DS). We present 3-month interim adaptive functioning and 
      neurodevelopment data from the prospective, observational BUTTERFLY study in 
      patients with DS aged 2-18 years. RESULTS: BUTTERFLY enrolled thirty-six patients 
      divided 1:1:1 across three age groups (2-7: 8-12: and 13-18 years). Most enrolled 
      patients were female (61.1%), white (94.4%), and non-Latino (83.3%) with a mean 
      (standard deviation; SD) age of 10.8 (5.2) years and a mean (range) age of 
      seizure onset of 0.4 (0.2-1.0) years. Patients used a mean (SD) of 3.5 (1.63) 
      anti-seizure therapies at baseline. Regression analysis of the baseline Vineland 
      Adaptive Behavior Scale - third edition (VABS-III) composite score indicated that 
      the gap in adaptive function between patients with DS (n = 33) and neurotypical 
      children widens with age. Similarly, developmental quotients calculated for 
      patients who completed all Bayley Scales of Infant Development - third edition 
      (BSID-III) subtests at baseline (n = 15) highlighted a gap in intellectual 
      functioning between patients with DS and neurotypical children that widens with 
      age. More patients in the two older age groups were able to validly complete the 
      Wechsler Preschool and Primary Scale of Intelligence - fourth edition (WPPSI-IV) 
      at baseline compared with the youngest age group. There were trends towards 
      higher raw scores, albeit of low magnitude, in the oldest age group compared with 
      the younger age two groups across multiple VABS-III domains and WPPSI-IV 
      subtests. All three measures showed no significant change in the all-patients 
      analyses and demonstrated relatively low intra-patient variability from baseline 
      to Month 3. CONCLUSIONS: Three-month interim data from BUTTERFLY demonstrated the 
      feasibility of utilizing the VABS-III, BSID-III, and WPPSI-IV for the assessment 
      of adaptive function and neurodevelopment in future clinical studies of DS. 
      Moreover, many patients with DS appear to gain neurodevelopmental and adaptive 
      function skills over time, although at a slower rate and lower magnitude than 
      that seen in the neurotypical population.
CI  - Copyright (c) 2022 The Author(s). 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.
FAU - Knupp, Kelly G
AU  - Knupp KG
AD  - Children'sHospital Colorado, Denver, CO, USA.
FAU - Chen, Dillon
AU  - Chen D
AD  - University of California, San Diego, CA, USA.
FAU - Zafar, Muhammad
AU  - Zafar M
AD  - Duke University, Durham, NC, USA.
FAU - Flamini, Robert
AU  - Flamini R
AD  - PANDA Neurology, Atlanta, GA, USA.
FAU - Stutely, James
AU  - Stutely J
AD  - Stoke Therapeutics, Bedford, MA.
FAU - Brathwaite, Charlene
AU  - Brathwaite C
AD  - Stoke Therapeutics, Bedford, MA.
FAU - Ventola, Pam
AU  - Ventola P
AD  - Cogstate Ltd., New Haven, CT, USA.
FAU - Avendano, Javier
AU  - Avendano J
AD  - Stoke Therapeutics, Bedford, MA.
FAU - Parkerson, Kimberly A
AU  - Parkerson KA
AD  - Stoke Therapeutics, Bedford, MA.
FAU - Wyant, Nancy
AU  - Wyant N
AD  - Stoke Therapeutics, Bedford, MA.
FAU - Ticho, Barry
AU  - Ticho B
AD  - Stoke Therapeutics, Bedford, MA.
LA  - eng
PT  - Journal Article
PT  - Observational Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20221101
PL  - United States
TA  - Epilepsy Behav
JT  - Epilepsy & behavior : E&B
JID - 100892858
RN  - CDKL5 deficiency disorder
SB  - IM
MH  - Child, Preschool
MH  - Child
MH  - Infant
MH  - Humans
MH  - Adolescent
MH  - Female
MH  - Aged
MH  - Male
MH  - Prospective Studies
MH  - *Epilepsies, Myoclonic
MH  - Cognition
MH  - *Spasms, Infantile
OTO - NOTNLM
OT  - BUTTERFLY study
OT  - Cognition
OT  - Dravet syndrome
OT  - Observational
OT  - Pediatrics
OT  - Quality of life
EDAT- 2022/11/05 06:00
MHDA- 2022/11/30 06:00
CRDT- 2022/11/04 19:28
PHST- 2022/04/12 00:00 [received]
PHST- 2022/10/03 00:00 [revised]
PHST- 2022/10/12 00:00 [accepted]
PHST- 2022/11/05 06:00 [pubmed]
PHST- 2022/11/30 06:00 [medline]
PHST- 2022/11/04 19:28 [entrez]
AID - S1525-5050(22)00404-8 [pii]
AID - 10.1016/j.yebeh.2022.108955 [doi]
PST - ppublish
SO  - Epilepsy Behav. 2022 Dec;137(Pt A):108955. doi: 10.1016/j.yebeh.2022.108955. Epub 
      2022 Nov 1.