PMID- 38151384
OWN - NLM
STAT- MEDLINE
DCOM- 20240205
LR  - 20240205
IS  - 1096-7206 (Electronic)
IS  - 1096-7192 (Linking)
VI  - 141
IP  - 2
DP  - 2024 Feb
TI  - Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo 
      syndrome) type IIIA.
PG  - 108110
LID - S1096-7192(23)00740-0 [pii]
LID - 10.1016/j.ymgme.2023.108110 [doi]
AB  - The objective of this paper is 1) to expand the scope of the domains previously 
      published in a natural history study of Mucopolysaccharidosis IIIA (Sanfilippo 
      syndrome type A) (MPS IIIA) and 2) to present evidence regarding the capacity of 
      a new metric, Growth Scale Values (GSVs), in comparison with traditional metrics, 
      to show changes in skills as assessed by the Bayley Scales of Infant Development 
      -III (BSID-III) and the Vineland Adaptive Behavior Scales, Second Edition 
      (VABS-II). We re-analyzed a cohort of 25 children, 20 with rapid progressing 
      disease and 5 with slow progression, who had been followed over two years using 
      the BSID-III, and the VABS-II. Previously findings were reported using age 
      equivalent scores; now we are also presenting findings with GSVs. For the 
      re-analysis, Language and Motor scores were added to the Cognitive scale on the 
      BSID-III, and Domain- and Subdomain-level scores added to the Total VABS-II score 
      (i.e., ABC Composite). We evaluated raw scores, age equivalent scores, and GSVs 
      (and standard scores for the VABS-II only). Individual patient data can be found 
      in the appendices to this publication. Results indicate that 1) Cognition as 
      measured by GSVs was the most sensitive to decline; 2) GSVs showed significant 
      decline in the range of 4 to 6 years of age; 3) For children under 4 years of 
      age, positive growth occurs on most scales and most metrics, with the exception 
      of language which slows somewhat earlier; 4) Other than the Cognitive scale, 
      Receptive Language on the BSID-III and Receptive Communication on the VABS-II 
      showed the most sensitivity to change; 5) Gross Motor skills showed the least 
      decline over time and appeared to lack sensitivity to MPS IIIA motor concerns; 
      and 6) No evidence for sensitivity to change for any metric was found in time 
      intervals less than one year. We conclude that GSVs are a precise measurement of 
      change to detect decline in function, and they are a valuable method for future 
      clinical trials in MPS IIIA. Evidence continues to support cognition as a primary 
      endpoint. Additional work is needed to identify sensitive measures of meaningful 
      endpoints to families.
CI  - Copyright (c) 2023. Published by Elsevier Inc.
FAU - Shapiro, Elsa G
AU  - Shapiro EG
AD  - Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA; Shapiro 
      Neuropsychology Consulting, LLC, Portland, OR, USA.
FAU - Eisengart, Julie B
AU  - Eisengart JB
AD  - Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. 
      Electronic address: eisen139@umn.edu.
FAU - Whiteman, David
AU  - Whiteman D
AD  - Takeda Pharmaceutical Company, Boston, MA, USA.
FAU - Whitley, Chester B
AU  - Whitley CB
AD  - Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA; Advanced 
      Therapies Program, Department of Pediatrics, University of Minnesota, 
      Minneapolis, MN, USA.
LA  - eng
PT  - Journal Article
DEP - 20231215
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
SB  - IM
MH  - Child
MH  - Infant
MH  - Humans
MH  - Child, Preschool
MH  - *Mucopolysaccharidosis III
MH  - Cognition
OTO - NOTNLM
OT  - Clinical endpoints
OT  - Clinical trials
OT  - Growth scale value
OT  - Measurement
OT  - Mucopolysaccharidosis IIIA
OT  - Neurocognitive decline
COIS- Declaration of Competing Interest None.
EDAT- 2023/12/28 00:42
MHDA- 2024/02/05 06:44
CRDT- 2023/12/27 21:58
PHST- 2023/10/01 00:00 [received]
PHST- 2023/12/04 00:00 [revised]
PHST- 2023/12/05 00:00 [accepted]
PHST- 2024/02/05 06:44 [medline]
PHST- 2023/12/28 00:42 [pubmed]
PHST- 2023/12/27 21:58 [entrez]
AID - S1096-7192(23)00740-0 [pii]
AID - 10.1016/j.ymgme.2023.108110 [doi]
PST - ppublish
SO  - Mol Genet Metab. 2024 Feb;141(2):108110. doi: 10.1016/j.ymgme.2023.108110. Epub 
      2023 Dec 15.