Behavioral, social and school functioning in children with Pompe disease

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.

Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review

“…For example, the neuropathic pain associated with Fabry disease and the skeletal symptoms associated with MPS impede pediatric patients’ ability to perform activities of daily living 42,44 . Further, it has been reported that pediatric patients with infantile Pompe disease experience more challenges in regard to activity and school competence when compared to peers of the same age 45 . Among adult patients with Gaucher disease, occupational and career choices are affected 32 .…”

Preclinical studies for plant-based oral enzyme replacement therapy (Oral-ERT) in Pompe disease knockout mice with transgenic tobacco seeds expressing human GAA (tobrhGAA)

“…Sanofi-Genzyme, Inc. using a rhGAA (alglucosidase alfa) secreted from a CHO cell line has demonstrated moderate success in patients (27), however yearly costs are very high. Although alglucosidase alfa has been a wonderful first step in treating PD it has revealed subtle aspects that must be dealt with for successful treatment (18,(42)(43)(44)(45)(46)(47)(48)(49). ERT usually begins when the patients are symptomatic, however, all the secondary problems are already present which are further compounded by issues with alglucosidase alfa uptake in muscle (Table 7) (18).…”

“…Gutschmidt et al (42) found that ERT in late onset patients' clinical outcomes, particularly lung function, muscle strength and walking capability tend to deteriorate over time, indicating that additional efforts must be made to improve ERT effectiveness and supplement therapies developed. Korlimarla et al (43) used a standardized behavior checklists as screening tools for the early identification and treatment of behavior, emotional and social concerns in children with PD. Although alglucosidase alfa has been a wonderful first step in treating people with PD, it has revealed subtle aspects that must be dealt with for successful treatment (18,(43)(44)(45)(46)(47)(48)(49).…”

“…Korlimarla et al (43) used a standardized behavior checklists as screening tools for the early identification and treatment of behavior, emotional and social concerns in children with PD. Although alglucosidase alfa has been a wonderful first step in treating people with PD, it has revealed subtle aspects that must be dealt with for successful treatment (18,(43)(44)(45)(46)(47)(48)(49). ERT has unmasked previously unrecognized clinical manifestations include tracheo-bronchomalacia, vascular aneurysms and GI discomfort that impacts smooth muscle.…”

Social Distance and Cultural Solidarity: Muslim Mothers and Nurturing Indonesian-Northern Irish Children

“…Humans form their behavior through continuous reciprocal interactions between cognitive, behavioral and environmental influences (Jean-Claude, 2006). Behavior forms from what is instilled in early childhood through the environment, leading to the development of social behavior (Liu et al, 2020;Korlimarla et al, 2020). Behavior includes not only things that are overt but covert.…”