Behavioral, social and school functioning in children with Pompe disease

Aditi Korlimarla, Gail A Spiridigliozzi, Mihaela Stefanescu, Stephanie L Austin, Priya S Kishnani, Aditi Korlimarla, Gail A Spiridigliozzi, Mihaela Stefanescu, Stephanie L Austin, Priya S Kishnani

Abstract

Purpose: To improve our understanding of the behavioral, social, and emotional functioning of children and adolescents with Pompe disease.

Method: Parents/guardians of 21 children (age 5-18y) with infantile (IPD) or late-onset (LOPD) Pompe disease on long-term enzyme replacement therapy completed three standardized checklists regarding their child's behavior: the Child Behavior Checklist (CBCL), Conners 3 Parent (Conners-3), Behavior Rating Inventory of Executive Function-2 (BRIEF2), and a survey of their child's educational services.

Results: Descriptive statistics were used to summarize the findings for each behavior checklist. Age standard scores from each checklist were reported for the IPD (n = 17, 9 females, mean age = 9y, 4 mo; SD = 3y, 8mo) and LOPD (n = 4, 1 female; mean = 11y, 2mo; SD = 2y, 1mo) groups. The majority of children with Pompe exhibited age-appropriate behavior and emotional functioning on these standardized checklists. However, negative mood symptoms, learning problems, decreased participation in structured social activities, and attentional difficulties were more frequently reported in children with IPD in comparison to same-aged peers. Parents of children with LOPD reported fewer problematic behaviors but endorsed negative mood symptoms and difficulties with peer relations. Most children received accommodations in regular education classrooms at school.

Conclusions: These standardized behavior checklists are useful screening tools for the early identification and treatment of behavior, emotional, and social concerns in children with Pompe disease.

Keywords: ADHD, attention-deficit/hyperactivity disorder; BRIEF2, Behavior Rating Inventory of Executive Function-Second Edition; Behavior checklists; CBCL, Child Behavior Checklist; Children with Pompe disease; Conners-3, Conners 3rd Edition Parent; ERT, enzyme replacement therapy; Emotional functioning; GAA, acid alpha-glucosidase; IEP, Individualized Education Program; IPD, infantile Pompe disease; LOPD, late-onset Pompe disease; SD, standard deviation; School functioning; Screening for behavior problems; Social functioning.

Conflict of interest statement

Dr. Aditi Korlimarla, Dr. Gail A. Spiridigliozzi, Mihaela Stefanescu, and Stephanie L. Austin have stated that they had no interests which might be perceived as posing a conflict or bias. Dr. Priya S. Kishnani has received research/grant support from 10.13039/100004339Sanofi Genzyme, 10.13039/100012638Valerion Therapeutics, and 10.13039/100015362Amicus Therapeutics. She has received consulting fees and honoraria from Sanofi Genzyme, Amicus Therapeutics, Vertex Pharmaceuticals and Asklepios Biopharmaceutical, Inc. (AskBio). She is a member of the Pompe and Gaucher Disease Registry Advisory Board for Sanofi Genzyme, Amicus Therapeutics, and Baebies. She has equity in Asklepios Biopharmaceutical, Inc. (AskBio), which is developing gene therapy for Pompe disease.

© 2020 The Authors. Published by Elsevier Inc.

Figures

Fig. 1
Fig. 1
Lightest shade (T-scores

Fig. 2

Numerator indicates number of children…

Fig. 2

Numerator indicates number of children with clinically relevant/significant scores on a scale, and…

Fig. 2
Numerator indicates number of children with clinically relevant/significant scores on a scale, and the denominator indicates the total number of children with completed scale scores. All scales from one particular behavior checklist have a unique color (green is for CBCL, orange is for Conners-3, and dark blue is for BRIEF2).
Fig. 2
Fig. 2
Numerator indicates number of children with clinically relevant/significant scores on a scale, and the denominator indicates the total number of children with completed scale scores. All scales from one particular behavior checklist have a unique color (green is for CBCL, orange is for Conners-3, and dark blue is for BRIEF2).

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Source: PubMed

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