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Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review
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.
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.
Abstract:
Prader-Willi syndrome (PWS) is a rare genetic disorder caused by the loss of imprinted gene expression on the paternal chromosome 15q11-q13. PWS is characterized by varying degrees of early psychomotor developmental deficits, primarily in cognition, language, and motor development. This review summarizes the early mental cognitive development, language development, and motor development in patients with PWS, compares the correlation of genotype with phenotype, and provides an update regarding the effects and concerns related to potential main side effects of treatment with recombinant human growth hormone on early psycho-cognitive and motor function development along with the linear growth and body composition of children with PWS.Conclusion: Early psychomotor development is strongly correlated with the prognosis of patients with PWS; moreover, current studies support that the initiation of interventions at an early age can exert significant beneficial effects on enhancing the cognitive and linguistic development of patients with PWS and allow them to "catch up" with motor development. What is Known: • Prader-Willi syndrome is a rare genetic disorder characterized by multisystem damage, and children with Prader-Willi syndrome are typically characterized by early developmental delays, specifically in the areas of cognitive and motor development. • Recombinant human growth hormone therapy is the only medical treatment approved for Prader-Willi syndrome. What is New: • Extensive presentation of psycho-cognitive and motor development features and genotype-phenotype correlation in children with Prader-Willi syndrome. • The effects of growth hormone on early psychomotor development in children with Prader-Willi syndrome were thoroughly reviewed, including their short- and long-term outcomes and any associated adverse effects.
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