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Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy

Chih-Jou Lai1,2, Ting-Rong Hsu3,4, Chia-Feng Yang3

  • 1Department of Physical Medicine and Rehabilitation, Taipei Veteran General Hospital, Taipei, Taiwan.

Journal of Child Neurology
|September 23, 2016
PubMed

Insights

Early enzyme replacement therapy (ERT) for infantile-onset Pompe disease preserves cognitive development. Treated infants showed normal cognitive progress up to 24 months, highlighting the therapy's protective effects.

Area of Science:

  • Pediatric Neurology
  • Metabolic Disorders
  • Developmental Pediatrics

Background:

  • Infantile-onset Pompe disease (IOPD) is a severe genetic disorder.
  • Early mortality in IOPD historically limited cognitive development assessment.
  • Enzyme replacement therapy (ERT) improves survival, enabling cognitive evaluation.

Purpose of the Study:

  • To evaluate the impact of very early ERT on cognitive development in IOPD patients.
  • To establish effective newborn screening and rapid diagnostic criteria for IOPD.
  • To assess cognitive and motor development trajectories from 6 to 24 months.

Main Methods:

  • Implementation of a newborn screening program with rapid diagnostic criteria.
  • Cognitive and motor development assessment using Bayley Scales of Infant and Toddler Development-Third Edition.
  • Longitudinal evaluation at 6, 12, and 24 months of age in treated IOPD patients.

Main Results:

  • Patients receiving very early ERT exhibited normal cognitive development.
  • Cognitive function remained stable throughout the 24-month evaluation period (P = .18).
  • Cognitive development showed a positive correlation with motor development (r = 0.533, P = .011).

Conclusions:

  • Very early ERT is crucial for protecting cognitive development in IOPD.
  • Timely intervention preserves cognitive function in infants with Pompe disease.
  • Newborn screening and prompt ERT are vital for optimal neurodevelopmental outcomes.

Keywords:
cognitive developmentenzyme replacement therapyinfantile-onset Pompe disease

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