Growth patterns of C hinese patients with P rader‐ W illi syndrome

Background Prader–Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human growth hormone (rhGH) treatment has been proven to rescue some symptoms and bring additional benefits to PWS patients, studies in patients under 2 years old are scarce. Thus, this study aims to investigate the effectiveness and safety of rhGH treatment for young children. Methods A total of 96 genetically confirmed Chinese PWS infants or toddlers (47 males) followed between 2013 and 2022 were retrospectively analyzed. Sixty-five infants (early treatment group) started rhGH treatment during their first year, and 31 toddlers (later treatment group) started at the age of 1–2 years. Auxological parameters, carbohydrate metabolism parameters, thyroid function, liver function, insulin-like growth factor-1 (IGF-1), and radiographs were acquired before the initiation of the treatment and every 3–6 months thereafter. Height/length, weight, and weight for height were expressed as standard deviation scores (SDSs) according to WHO child growth standards. Results The mean SDS of length/height in the early treatment group was significantly higher than that in the later treatment group throughout the observation period (all P < 0.001). The change in the length SDS between the two groups at 1 year old and 4 years old was 1.50 (95% CI, 0.88–2.13) and 0.63 (95% CI, 0.16–1.10), respectively. Compared to the later treatment group, the weight SDS in the early treatment group increased by 0.94 (95% CI, 0.37–1.52) at 1 year old and 0.84 (95% CI, 0.28–1.39) at 2 years old. No statistical significance was found after 2.5 years of age. No significant differences were observed in IGF-1, incidence of liver dysfunction, hypothyroidism or spinal deformity between the two groups. Conclusions rhGH treatment improved growth and body composition in infants and toddlers. Furthermore, an early start of rhGH treatment is expected to have more efficacy than the later treatment group without an increase in adverse effects.

Section: Discussionsupporting

confidence: 91%

Effects of early recombinant human growth hormone treatment in young Chinese children with Prader–Willi syndrome

Gao

Yang

Dai

et al. 2023

“…The growth pattern of Thai PWS individuals was similar to the previous literature from several countries [5-7, 9, 16]. The mean birth weight in Thai PWS (2.7 kg, male; 2.5 kg, female) was below the normal newborn (3.4 kg, males; 3.2 kg, females), and was quite similar to the studies in Japan (2.7 kg, males; 2.62 kg, females), Korea (2.67 kg, males; 2.79 kg, females), and China (2.8 kg, males; 2.77 kg, females) [5,6,17]. The mean body weight was below the average values for typical children before 2 years of age, then weight velocity definitely increased after 2 years of age in both genders.…”

Section: Discussionsupporting

confidence: 85%

“…Previous reports constructed specific growth curves for PWS in the US, Germany, Korea, and Japan [5-7, 9, 16]. Study of growth patterns in China has been reported without growth curve construction [17]. The growth pattern of Thai PWS individuals was similar to the previous literature from several countries [5-7, 9, 16].…”

Section: Discussionsupporting

confidence: 71%

Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years

Mongkollarp

Tim‐Aroon

Okascharoen

et al. 2020

Background: Prader-Willi syndrome (PWS) is a multisystem genetic disorder, which has a typical eating behavior and growth pattern. In the infancy period, children with PWS have low body weight followed by hyperphagia in later childhood. Disease-specific growth charts have been recommended for monitoring PWS patients. Previous literature demonstrated growth differences among individuals with PWS of different ethnicity. Methods: A retrospective multicenter study was performed in PWS patients from different areas of Thailand included collaboration with the Thai PWS support group during 2000-2017. Baseline characteristics and anthropometric data were reviewed. Both growth hormone and non-growth hormone received patients were included, but the data after receiving GH were excluded before curve construction. Growth charts for Thai PWS compared to the 50th normative centile were constructed using Generalized Least Squares (GLS) methods. Curve smoothing was performed by Fractional Polynomials and Exponential Transformation. Result: One hundred and thirteen patients with genetically confirmed PWS (55 males and 58 females) were enrolled. Fifty percent of patients were diagnosed less than 6 months of age. We developed growth charts for non-growth hormone treated Thai children with PWS aged between 0 and 18 years. A growth pattern was similar to other ethnicities while there were some differences. Mean birth weight of PWS patients was less than that of typical newborns. Mean adult height at 18 years of age in Thai children with PWS was lower than that in American children, but taller than Japanese. Mean weight of Thai PWS males at 18 years of age was more than those from other countries. Conclusion: This study is the first to document PWS-specific growth charts in Southeast Asian population. These growth charts will be useful in improving the quality of patient care and in evaluating the impact of growth hormone treatment in the future.

“…Recombinant human GH (rhGH) therapy in patients with PWS has been used by the medical community since its approval in the United States in 2000 and in Europe in 2001 [ 92 ]. It is beneficial to normalize height, increase lean body mass, flexibility and activity levels, and reduce fat mass [ 93 – 99 ].…”

Section: Managementmentioning

confidence: 99%

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China

Dai

Fei-Hong²,

Zhang³

et al. 2022

Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by severe hypotonia with poor suck and feeding difficulties in the early infancy, followed by overeating in late infancy or early childhood and progressive development of morbid obesity unless the diet is externally controlled. Compared to Western PWS patients, Chinese patients have a higher ratio of deletion type. Although some rare disease networks, including PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS, were established recently, misdiagnosis, missed diagnosis and inappropriate intervention were usually noted in China. Therefore, there is an urgent need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy. Our purpose is to evaluate the current literature and evidences on diagnosis and management of PWS in order to provide evidence-based guidelines for this disease, specially from China.