Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review

Yu-Yu Jin1, Fei-Hong Luo2

  • 1Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wan Yuan Road, Min Hang District, Shanghai, 201102, China.

PubMed

Insights

Early intervention is key for Prader-Willi syndrome (PWS), a genetic disorder. Early psychomotor development impacts prognosis, and timely treatments can improve cognitive and language skills, helping children with PWS catch up in motor development.

Area of Science:

  • Genetics
  • Developmental Pediatrics
  • Endocrinology

Background:

  • Prader-Willi syndrome (PWS) is a rare genetic disorder impacting chromosome 15q11-q13.
  • Children with PWS experience developmental delays, particularly in cognitive and motor skills.
  • Recombinant human growth hormone (rhGH) is the sole approved medical treatment for PWS.

Purpose of the Study:

  • To review early cognitive, language, and motor development in PWS patients.
  • To correlate genotype with phenotype in PWS.
  • To update on rhGH therapy's effects on psychomotor development, growth, and body composition in children with PWS.

Main Methods:

  • Literature review of studies on PWS development and rhGH treatment.
  • Analysis of genotype-phenotype correlations.
  • Evaluation of short- and long-term outcomes of rhGH therapy, including adverse effects.

Main Results:

  • Early psychomotor development is a strong predictor of PWS patient prognosis.
  • Early interventions significantly benefit cognitive and linguistic development in PWS.
  • rhGH therapy's impact on psychomotor development, growth, and body composition is reviewed, including potential side effects.

Conclusions:

  • Early intervention strategies are crucial for improving outcomes in PWS.
  • Understanding genotype-phenotype correlations aids in predicting developmental trajectories.
  • Comprehensive review of rhGH therapy provides insights into its benefits and risks for children with PWS.

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