The vast majority of studies published in recent years on Pompe disease have focused on its pathophysiology as well as current and future treatment options; precious few have been devoted to studying the psychosocial aspects of patients with the disease.

Given that Pompe disease is most often diagnosed in pediatric patients, these aspects should be given special importance. We should be asking how well children with the disease are coping on a day-to-day basis. Are they able to enjoy good peer relations in school? How about their mood? Are they able to plan and organize and see tasks to completion?

Revealing Findings 

In order to better treat pediatric patients with Pompe disease, it is vital that we expand our understanding of its psychosocial impact. This is the subject of a paper written by Korlimarla et al titled “Behavioral, social and school functioning in children with Pompe disease.”

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The reason for such a choice of angle? “To date, studies examining the cognitive functioning, academic skills, speech and language skills and visual-motor abilities of children and adolescents with infantile [Pompe disease] have shown considerable variability in their skill levels,” the research team wrote. “However, data on the behavioral, social, and emotional profiles of children and adolescents with Pompe disease are very limited.”

Read more about Pompe disease etiology 

Korlimarla and colleagues recruited patients who were already participants in a long-term natural history study of Pompe disease at the Duke University Medical Center in Durham, North Carolina. A total of 21 children, aged between 5 and 17 years, were studied. Of those, 17 had a diagnosis of infantile Pompe disease and 4 had the late-onset type. All of them were receiving long-term enzyme replacement therapy (ERT). 

Because these participants were children, their parents/guardians were asked to complete 3 standardized behavior checklists regarding their at-home behavior:

  • Child Behavior Checklist for Ages 6-18 (CBCL)
  • Conners 3rd Edition Parent (Conners-3) 
  • Behavior Rating Inventory of Executive Function – Second Edition (BRIEF2) Parent form.

Combined, these checklists comprehensively cover key parameters of a child’s social and mental well-being. For example, the CBCL has items on feelings of anxiety/depression, rule-breaking behavior, aggressive behavior, and somatic complaints. 

The Conners-3 has items on behaviors such as hyperactivity/impulsivity, learning difficulties, peer relations, ADHD, and conduct disorder. The BRIEF2 has items on emotional control, initiation, memory, and task monitoring, as well as behavior/emotion/cognitive regulation. 

The results of this study are multilayered, since so much ground is covered. The CBCL scores demonstrated that the emotional and behavioral functioning of most children with infantile Pompe disease appeared to be age-appropriate; however, some were reported to have difficulties on the Withdrawn/Depressed scale. Words like “shy,” “timid,” “unhappy,” and “depressed” were used. 

Regarding the Conners-3 scores, about 50% of patients had clinically relevant scores on the Inattention scale. In addition, a third of children with infantile-onset Pompe disease had clinically relevant scores on the ADHD Predominantly Hyperactive-Impulsive Presentation and Oppositional Defiant Disorder Symptoms scale. However, the researchers cautioned that these findings do not necessarily mean that the child in question behaved in a physically aggressive manner.

The CBCL scores also revealed that a majority of children had a lower participation rate in sports and other activities than same-aged peers. Additionally, parents reported that many of them do not belong to any formal clubs, teams, or groups with peers. This can partially be explained by limitations imposed by their unique medical needs (such as regular ERT infusions and medical follow-ups).

A Need for Better Care

The key takeaway of Korlimarla and colleagues’ study is that the psychosocial aspects of the needs of children with Pompe disease deserve greater attention than in normal children since their psychosocial scoring generally was lower than their peers’ scores. 

“The study lays a foundation for the use of standardized behavior checklists to better characterize the behavioral, emotional, and social functioning of children and adolescents with PD over time,” the research team wrote.

Hahn et al, in their study on the diagnosis and care of infants and children with Pompe disease, wrote with particular sensitivity on this subject.

“Treatment of children with infantile-onset PD and late-onset PD by far exceeds mere ERT,” they argued. “Especially infantile-onset PD, the multisystemic features require a close collaboration of many medical and nonmedical disciplines such as metabolic specialists, child neurologists, neurologists, cardiologists, pulmonologists, ear, nose and throat specialists, gastroenterologists, anesthetists, physiotherapists, speech therapists, social workers, and many others.” 

Read more about PD treatment

The reasons for this are clear; Hahn et al wrote, “These children often have additional stressors, including physical challenges, increased absenteeism at school, and academic difficulties. The children’s weekly or biweekly ERT infusions, visits to multiple specialists, and residual myopathy may pose significant challenges for their development.” 

And here we come to the inescapable conclusion that we must make: psychosocial care in PD children should be prioritized, and the best way to do so, as concluded by Hahn and colleagues, is to do it in a (large) multidisciplinary setting. Children deserve to live free and wholesome lives, as much as it is possible, and it is our job as physicians to strive to make that a reality.


Korlimarla A, Spiridigliozzi GA, Stefanescu M, Austin SL, Kishnani PS. Behavioral, social and school functioning in children with Pompe diseaseMol Genet Metab Rep. Published online August 5, 2020. doi:10.1016/j.ymgmr.2020.100635

Hahn A, Hennermann JB, Huemer M, et al. Diagnosis and care of infants and children with Pompe diseaseKlin Padiatr. 2020;10.1055/a-1110-7335. doi:10.1055/a-1110-7335