Early cognitive development in children with infantile Pompe disease.

Spiridigliozzi, Gail A

Heller, James H

Case, Laura E

Jones, Harrison N

Kishnani, Priya S

2023-05-02T13:38:06Z

2023-05-02T13:38:06Z

2012-03

2023-05-02T13:38:05Z

This report describes the cognitive development of 17 children with infantile Pompe disease who participated in a 52-week clinical trial of enzyme replacement therapy (ERT) via biweekly infusion of Myozyme® (alglucosidase alfa). Subjects were six months of age or younger (adjusted for gestational age) upon initiation of ERT. The Mental Scale of the Bayley Scales of Infant Development-Second Edition (BSID-II) was administered to obtain a Mental Development Index (MDI) at baseline and weeks 12, 26, 38, and 52 of ERT to assess cognitive development in this treated cohort. Data regarding motor development were also obtained at the same visits and these were used to determine correlations between cognitive and motor development. Over the course of the study, two subgroups of subjects emerged: high responders who were sitting independently and/or ambulating by week 52 (n=13) and limited responders who showed minimal motor gains throughout the first year of ERT (n=4). In the high responder group, MDI scores on the BSID-II remained stable throughout the study and were within normal limits. Positive correlations between cognitive and motor development were also present. These data suggest that the cognitive function of infants up to 18 months of age with Pompe disease is unaffected by the possible presence of glycogen in the central nervous system. Continued investigation of the cognitive development of older survivors is warranted.

S1096-7192(11)00381-7

1096-7192

1096-7206

https://hdl.handle.net/10161/27314

eng

Elsevier BV

Molecular genetics and metabolism

10.1016/j.ymgme.2011.10.012

Humans

Glycogen Storage Disease Type II

Glycogen

alpha-Glucosidases

Cohort Studies

Cognition

Motor Skills

Infant

Infant, Newborn

Female

Male

Enzyme Replacement Therapy

Early cognitive development in children with infantile Pompe disease.

Journal article

Case, Laura E|0000-0002-2941-2186

Jones, Harrison N|0000-0002-4171-980X

Kishnani, Priya S|0000-0001-8251-909X

428

432

3

Duke

School of Medicine

Basic Science Departments

Clinical Science Departments

Institutes and Centers

Molecular Genetics and Microbiology

Orthopaedic Surgery

Pediatrics

Psychiatry & Behavioral Sciences

Pediatrics, Medical Genetics

Duke Clinical Research Institute

Institutes and Provost's Academic Units

Psychiatry, Child & Family Mental Health & Community Psychiatry

Initiatives

Orthopaedic Surgery, Physical Therapy

Duke Innovation & Entrepreneurship

Head and Neck Surgery & Communication Sciences

Published

105