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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy:

Gail A Spiridigliozzi1, James H Heller, Priya S Kishnani

  • 1Durham Child Development and Behavioral Health Clinic, Duke University Medical Center, Durham, NC 27707, USA. gail.spiridigliozzi@duke.edu

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|January 19, 2012
PubMed

Insights

Children with classic infantile Pompe disease on enzyme replacement therapy (ERT) show stable cognitive function, while those with atypical forms exhibit IQ gains. Motor deficits impact adaptive skills in both groups.

Area of Science:

  • Pediatric Neurology
  • Lysosomal Storage Diseases
  • Neurodevelopmental Outcomes

Background:

  • Infantile Pompe disease is a rare genetic disorder affecting motor neurons and overall development.
  • Enzyme replacement therapy (ERT) with Myozyme® is a primary treatment for infantile Pompe disease.
  • Long-term cognitive and adaptive outcomes in children receiving ERT require further investigation.

Purpose of the Study:

  • To document the long-term cognitive and adaptive functioning in children with infantile Pompe disease treated with ERT.
  • To compare outcomes between classic and atypical infantile Pompe disease presentations.
  • To explore the relationship between cognitive function, adaptive behavior, and motor skills.

Main Methods:

  • Longitudinal assessment of cognitive function using individualized intelligence (IQ) testing in seven classic and two atypical infantile Pompe disease patients.
  • Measurement of adaptive functioning via the Vineland Adaptive Behavior Scales-Second Edition (VABS-II).
  • Average ERT duration of 6 years, 8 months for classic and 4 years, 1.5 months for atypical cases.

Main Results:

  • Children with classic infantile Pompe disease demonstrated cognitive function at the lower end of the average range, with no decline over time.
  • Children with atypical infantile Pompe disease achieved above-average IQ scores and showed significant IQ gains.
  • Adaptive functioning scores (VABS-II) were lower than Full Scale IQ scores for all assessed children, with motor function impacting adaptive behavior.

Conclusions:

  • ERT appears to stabilize cognitive function in classic infantile Pompe disease, while promoting gains in atypical forms.
  • Motor deficits significantly influence adaptive behavior, highlighting the need for targeted interventions.
  • Findings contribute to understanding the central nervous system (CNS) impact on cognitive and adaptive outcomes in infantile Pompe disease.

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