Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader–Willi syndrome

Cheng, Ruoqian; Ying, Yanqin; Qiu, Zhengqing; Fu, Junfen; Gong, Chunxiu; Yang, Yong; Shi, Wei; Li, Hui; Ma, Ming-Sheng; Wang, Changyan; Liu, Min; Chen, Jiajia; Su, Chang; Li, Xiaoping; Fei-Hong, Luo; Lu, Wei

doi:10.1007/s12519-022-00653-y

Cited by 13 publications

(8 citation statements)

References 36 publications

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“…In addition, PWS patients exhibited comprehensive developmental delays, including 100% of patients experiencing motor developmental delay and 82.8% of patients aged over 2 years having language developmental delay. Our findings were consistent with previous studies, 31,34,37 showing a correlation between language developmental delay and genotypes, with higher rates in the deletion type than the non-deletion type. Driscoll et al also found motor developmental delay in 90%-100% of PWS children.…”

Section: Discussionsupporting

confidence: 93%

Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China

Mao,

Yang,

Gao

et al. 2024

Clinical Genetics

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The genotype–phenotype relationship in PWS patients is important for a better understanding of the clinical phenotype and clinical characteristics of different genotypes of PWS in children. We aimed to explore the influence of specific gene changes on the clinical symptoms of PWS and the value of early screening and early intervention of the condition. All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected information included basic demographics, maternal pregnancy information, endocrine abnormalities, growth and development abnormalities, and other clinical phenotypes. The relationships between genotypes and phenotypes in the major categories of PWS were analyzed. A total of 586 PWS cases with confirmed molecular diagnosis and genotyping were included in this study. Among them, 83.8% belonged to the deletion type, 10.9% the uniparental disomy (UPD) type, and 5.3% the imprinting defect (ID) type. Age‐wide comparison among the three groups: The rate of hypopigmentation in the deletion group was higher than that in the UPD group (88.8% vs. 60.9%; p < 0.05); A total of 62 patients (14.2%) had epilepsy; and no statistical significance was found among the three groups (p = 0.110). Age‐wide comparison between the deletion and non‐deletion types: the rate of skin hypopigmentation and epilepsy in the deletion group was significantly higher than that in the non‐deletion group (88.8% vs. 68.4%, p < 0.001; 15.9% vs. 7.6%, p = 0.040). The intergroup comparison for the >2‐year age group: there were significant intergroup differences in the language development delay among the three groups (p < 0.001). The incidence of delayed language development was the highest in the deletion group, followed by the UPD group, and the lowest in the ID group. The rates of obesity and hyperphagia in the deletion group were also higher than those in the non‐deletion group (71.1% vs. 58.9%, p = 0.041; 75.7% vs. 62.0%, p = 0.016). There are significant differences in the rates of skin hypopigmentation and language developmental delay among the deletion, UPD, and ID genotypes. The patients with deletion type had significantly higher rates of lighter skin color, obesity, hyperphagia, language developmental delay, and epilepsy. The results of this study will help clinicians better understand the impact of different PWS molecular etiologies on specific phenotypes.

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Section: Discussionsupporting

confidence: 93%

Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China

Mao,

Yang,

Gao

et al. 2024

Clinical Genetics

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“…They received rhGH treatment after being diagnosed with PWS at the Department of Endocrinology, Children’s Hospital of Fudan University. The inclusion and exclusion criteria were described in the previous paper [ 4 ]. Participants in the non-rhGH treatment group were diagnosed with PWS, who never used rhGH treatment.…”

Section: Methodsmentioning

confidence: 99%

“…Most children with PWS have growth hormone (GH) deficiency, which can be identified through real-time monitoring of daily spontaneous GH release and associated stimulation tests [ 3 ]. Studies have shown that rhGH therapy can improve linear growth, body composition, physical strength, agility, and mental development in children with PWS [ 4 , 5 ]. This treatment should be accompanied by dietary, environmental, and lifestyle interventions for genetically-confirmed PWS patients [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Evaluating the effect of recombinant human growth hormone treatment on sleep-related breathing disorders in toddlers with Prader–Willi syndrome: a one-year retrospective cohort study

Guo,

Fu,

Zhou

et al. 2024

BMC Pediatr

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Background Recombinant human growth hormone (rhGH) therapy is beneficial for children with Prader–Willi syndrome (PWS) in improving short stature and metabolism, but the effect of early rhGH treatment on respiratory and sleep parameters for PWS children under three years old remains elusive. Thus, this study aimed to investigate the impact of rhGH treatment on sleep-related breathing disorders (SRBDs) for toddlers with PWS. Methods A total of 17 age-matched PWS patients receiving rhGH treatment (rhGH group) and 17 control individuals not receiving rhGH treatment (non-rhGH group) were recruited for this study between October 2018 and January 2023. Data related to polysomnography-polygraphy (PSG) and serum levels of insulin-like growth factor (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) were collected. Results The mean age in the rhGH group was 20.76 ± 9.22 months, which was comparable to that of the non-rhGH group (25.23 ± 13.81 months). The demographic and anthropometric parameters were similar across the two groups after 52 weeks of treatment. Administration of rhGH to toddlers did not exert adverse effects on the obstructive apnea–hypopnea index (OAHI), central apnea index (CAI), oxygen desaturation index (ODI), mean percutaneous oxygen saturation (SpO2), lowest SpO2, duration when SpO2 is lower than 90%, or proportion of the patients with SpO2 lower than 90%. Furthermore, the increased IGF-1 z-score and IGFBP-3 level did not worsen SRBDs. Conclusion Treatment with rhGH for 52 weeks on young toddlers with PWS showed no deleterious effects on SRBDs. This shed more light on the importance of initiating rhGH therapy early in PWS patients.

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“…There are 3 main types of PWS, including paternal deletion (65-75%), maternal uniparental disomy (mUPD) (20 -30%), and imprinting defects (1-3%). 1 PWS displays significant clinical variability with age, ranging from hypotonia and sucking weakness during infancy to hyperphagia, morbid obesity, hypogonadism, and growth retardation [ 1 – 4 ].…”

Section: Introductionmentioning

confidence: 99%

Orthopedic manifestations in children with Prader-Willi syndrome

Miao,

Zhao,

Zhou

et al. 2024

BMC Pediatr

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Background Prader-Willi syndrome (PWS) is a rare genetic disease often associated with bone problems, mainly scoliosis and hip dysplasia (HD). This study aimed to analyze the clinical characteristics of orthopedic deformities in patients with PWS. Methods A retrospective study was conducted on 175 patients up to March 2023. The Cobb angle(CA) of the spine, the alpha angle of the hip joint, and the acetabular index (AI) were measured. This study aimed to evaluate the relationship between demographic parameters and bone deformities. Results Scoliosis was found in 66 patients (43.7%), including 52 (78.8%) with mild scoliosis, 10 (15.2%) with moderate scoliosis, and 4 (6.1%) with severe scoliosis. Only seven patients received orthopedic treatment (10.6%). The median age of scoliosis was 4.5 years old, and the prevalence of scoliosis increased rapidly at the age of 5 years and adolescence. The mean CA in this study increased gradually with age. HD was found in 47 patients (38.2%), and 6 patients received orthopedic treatment (12.7%). The median age at HD was 1.8 years old. The mean AI of the study population decreased with age. The prevalence of HD treated with recombinant human growth hormone (rhGH) was low. No significant differences were observed in sex, genotype, body mass index (BMI), obesity rate, or onset of scoliosis and HD. Conclusion The prevalence of scoliosis and HD was higher in patients with PWS. The onset age and developmental trends of the different skeletal malformations were different. Early diagnosis and treatment are important for the prognosis and treatment of orthopedic diseases in patients with PWS.

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Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader–Willi syndrome

Cited by 13 publications

References 36 publications

Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China

Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China

Evaluating the effect of recombinant human growth hormone treatment on sleep-related breathing disorders in toddlers with Prader–Willi syndrome: a one-year retrospective cohort study

Orthopedic manifestations in children with Prader-Willi syndrome

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