Prader–Willi Syndrome: 16-Year Experience in Hong Kong

Lo, Ivan F.M.; Luk, Ho Ming; Tong, Tony M F; Lai, Kent; Chan, Daniel Hon-Chuen; Lam, Albert; Chan, David K H; Hau, Edgar W L; Fung, Connie; Lam, Stephen

doi:10.1016/j.jgg.2012.02.005

Cited by 4 publications

(6 citation statements)

References 20 publications

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“…In fact, the ratio of rhGH treatment may be lower than 48.9%, as rhGH treatment may be lower in unregistered PWS patients. In Hong Kong, only 1.79% of PWS patients (1/56) had accepted rhGH treatment in the Chinese PWS cohort from 1995 to 2010 [ 29 ]. A considerable cost and incurability might result in a low ratio of accepting rhGH therapy [ 30 ].…”

Section: Discussionmentioning

confidence: 99%

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

Gao

Yang

Dai

et al. 2023

Orphanet J Rare Dis

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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.

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Section: Discussionmentioning

confidence: 99%

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

Gao

Yang

Dai

et al. 2023

Orphanet J Rare Dis

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“…In Asia, the genotype-phenotype correlations have been investigated in PWS patients in Korea (Kim et al 2004), Taiwan (Lin et al 2007), Hong Kong (Lo et al 2012) and Mainland China (Lu et al, 2014).The standard growth curves for Japanese individuals with PWS were reported in 2000 (Nagai et al 2000). But no data about the growth pattern in Chinese PWS patients have been explored so far.…”

Section: Introductionmentioning

confidence: 99%

“…), Hong Kong (Lo et al. ) and Mainland China (Lu et al., ).The standard growth curves for Japanese individuals with PWS were reported in 2000 (Nagai et al. ).…”

Section: Introductionmentioning

confidence: 99%

Growth patterns of Chinese patients with Prader‐Willi syndrome

Yang

Mengqi

Song

et al. 2015

Congenital Anomalies

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“…Given that the characteristic signs evolve with age and the initial symptoms overlap with other disorders, it could be difficult for the clinical diagnosis of PWS/AS in early infancy. As previous studies indicated [2, 5, 10, 11], the median age of diagnosis in PWS patients varied between 0.8 and 19.8 years, and in AS patients it was 0.9 to 6.2 years. In the present study, genetic screening was carried out in suspected individuals from neonatal intensive care units.…”

Section: Discussionmentioning

confidence: 75%

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China

et al. 2019

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Background Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region. Methods 3331 individuals was recruited from June 2013 to December 2016 under an institutional review board-approved protocol of informed consent. The methylation-specific PCR was employed as a first-tier screening test. The multiplex-fluorescent-labeled STR linkage analysis was carried out to define the underlying genetic mechanisms. The chromosomal microarray analysis was employed to identify chromosomal breakpoints in confirmed cases, and to detect other chromosomal abnormalities in undiagnosed cases. Genetic counseling and recurrence risk assessment were provided to families with affected individuals. Results The methylation-specific PCR identified 36 PWS suspected patients and 13 AS suspected patients. UBE3A sequence analysis identified another 1 patient with AS. The STR linkage analysis define the underlying genetic mechanisms. Thirty PWS patients were with paternal deletions on chromosome region 15q11-q13, 5 with isodisomic uniparental disomy and 1 with mixed segmental isodisomic/ heterodisomic uniparental disomy of maternal chromosome 15. Twelve AS patients were with maternal deletions, 1 with isodisomic uniparental disomy and 1 with UBE3A gene mutation. The chromosomal microarray analysis identified chromosomal breakpoints in confirmed cases, and detected chromosomal abnormalities in another 4 patients with clinically overlapped features but tested negative for PWS/AS. Genetic counseling was offered to all families with affected individuals. Conclusions Identifying the disorders at early age, establishing the molecular mechanisms, carrying out treatment intervention and close monitoring can significantly improve the prognosis of PWS/AS patients.

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Prader–Willi Syndrome: 16-Year Experience in Hong Kong

Cited by 4 publications

References 20 publications

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

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

Growth patterns of Chinese patients with Prader‐Willi syndrome

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China

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