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Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome
Federica Ricci1, Chiara Brusa1, Francesca Rossi1
1Department of Pediatrics, Division of Child Neurology and Psychiatry, Turin University Hospital, Piazza Polonia 94, 10126, Turin, Italy.
Insights
This study proposes a reliable six-month follow-up protocol for children with Pompe disease (PD), utilizing specific functional scales to monitor motor progression and cognitive function. The protocol aids in tracking disease progression and enzyme replacement therapy effects.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Pompe disease (PD) is a rare genetic disorder caused by alpha-glucosidase deficiency, leading to glycogen accumulation.
- The disease presents a wide spectrum, from infantile to adult forms, with enzyme replacement therapy (ERT) altering its natural history.
- ERT has improved survival in PD patients, highlighting the need for effective monitoring of myopathic features.
Purpose of the Study:
- To establish a simple and reliable follow-up protocol for monitoring disease progression in children with Pompe disease.
- To identify validated functional scales for assessing neuromuscular and cognitive development in pediatric PD patients.
- To compare different assessment tools for their efficacy in long-term monitoring.
Main Methods:
- Longitudinal monitoring of eight young Pompe disease patients over three years.
- Selection and comparison of validated functional scales for neuromuscular disorders.
- Evaluation of cognitive functions using developmental and cognitive tests.
Main Results:
- The study suggests Chop Intend, MFM20 (Motor Function Measure Scale for Neuromuscular Diseases 20), and NSAA (North Star Ambulatory Assessment) are effective for assessing motor function in children with PD.
- Recommended complementary assessments include ROM (Range Of Motion), MRC (Medical Research Council) evaluation, and the 6MWT (6 Minute Walk test).
- Cognitive function assessment may benefit from additional tests beyond classical intelligence scales (WISC, WPPSI).
Conclusions:
- A six-month follow-up protocol is proposed as reliable for children with Pompe disease.
- Regular monitoring is crucial due to the disease's progressive nature, developmental changes, and the need to document ERT efficacy.
- Further neuropsychological testing is recommended to comprehensively characterize cognitive profiles in PD patients.
Background:
Pompe disease (PD) is a rare condition caused by mutations in gene encoding for the enzyme alpha-glucosidase, resulting in an abnormal intracellular accumulation of glycogen. The disease clinical spectrum ranges from severe infantile forms to adult-onset forms with minor limitations. Since 2000 enzyme replacement therapy (ERT) is available and disease natural history has changed, with prolonged survival and evidence of myopathic features.
Methods:
In this study, we monitored disease progression up to three years in eight young patients with PD. Based on the literature data and the long term personal experience, we selected validated functional scales for neuromuscular disorders and compared the results to identify a simple and reliable protocol for the follow-up of children with PD. Moreover, we evaluated cognitive functions using developmental/cognitive tests.
Results:
Based on study results, we suggest that motor functions in children with PD could be better assessed by Chop Intend, MFM20 (Motor Function Measure Scale for Neuromuscular Diseases 20) and NSAA (North Star Ambulatory Assessment), according to age and functional level. Evaluation should be completed with ROM (Range Of Motion) measurement, MRC (Medical Research Council) evaluation and 6MWT (6 Minute Walk test) when possible.
Conclusions:
The proposed protocol seems to be reliable and should be done every six months, because of the progressive natural history of the disease, the rapid changes typical of developmental age and the need to document ERT effects. About cognitive functions, additional tests to classical intelligence scales (WISC, WPPSI) should be useful to better describe specific neuropsychological profile.
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