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

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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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Data availability

Data used in this review are available for the public in databases like PUBMED or Google Scholar.

Abbreviations

AIMS:

Alberta Infant Motor Scale

BOT:

Bruininks-Oseretsky Test

BP:

Breakpoint

BSID-II:

Bayley Scales of Infant Development II

DEL:

Deletion

FMQ:

Fine motor quotient

GDS-C:

The Griffiths Development Scales-Chinese

GH:

Growth hormone

GMFM:

The Gross Motor Function Measure

GMQ:

Gross motor quotient

HRQoL:

Health-Related Quality of Life

IMS:

Infant Muscle Strength

IQ:

Intelligence quotient

KO:

Knockout

PDMS-2:

Peabody Developmental Motor Scales-Second Edition

PWS:

Prader-Willi syndrome

RCT:

Randomized controlled trial

rhGH:

Recombinant human growth hormone

SD:

Standard deviation

TI:

Type I

TII:

Type II

TIME:

Toddler Infant Motor Evaluation

TIQ:

Total intelligent quotient

TMQ:

Total motor quotient

ToM:

Theory of Mind

UCI:

University of California, Irvine

UPD:

Maternal uniparental disomy

VABS:

Vineland Adaptive Behavior Scales

WISC:

Wechsler Intelligence Scale for Children

WISC-R:

Wechsler Intelligence Scale for Children-Revised

WPPSI-R:

Wechsler Preschool and Primary Scale of Intelligence-Revised

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Funding

This work was supported by the National Key Research and Development Program of China (2021YFC2701904) and the Clinical Special Project of Integrated Traditional Chinese and Western Medicine in 2019 (ZXYXZ-201902).

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F.-H. L. conceptualized, designed the review, and critically revised the manuscript. Y.-Y. J. performed the literature search, drafted the initial manuscript, and revised it according to the revisions. All authors read and approved the final manuscript.

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Correspondence to Fei-Hong Luo.

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Jin, YY., Luo, FH. Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review. Eur J Pediatr 183, 1021–1036 (2024). https://doi.org/10.1007/s00431-023-05327-z

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