Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature

Rosenberg, Anna G W; Wellink, Charlotte M; Garcia, Juan M. Tellez; Pellikaan, Karlijn; Abswoude, Denise H. van; Davidse, Kirsten; Zutven, Laura J. C. M. van; Brüggenwirth, Hennie T.; Resnick, James L.; Lely, Aart-Jan van der; Graaff, Laura C. G. de

doi:10.3390/jcm11144033

Cited by 13 publications

(5 citation statements)

References 65 publications

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“…Genetic differences exist in the incidence of scoliosis in adult patients with PWS, and the deletion type is more common. 30 This may be related to the fact that the spine is still in the developmental stage in childhood, and scoliosis may continue to progress. Sex is not a risk factor for scoliosis in patients with PWS, but the incidence is higher in women with idiopathic scoliosis.…”

Section: Discussionmentioning

confidence: 99%

Orthopedic manifestations in children with Prader-Willi syndrome

Miao,

Zhao,

Zhou

et al. 2023

Preprint

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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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Section: Discussionmentioning

confidence: 99%

Orthopedic manifestations in children with Prader-Willi syndrome

Miao,

Zhao,

Zhou

et al. 2023

Preprint

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“…It is important to note that PWS undergoes a complex evolution throughout an individual's lifespan. Typically, the characteristic clinical presentation becomes more apparent in adulthood (17,18). In infants, major symptoms include severe muscle weakness, weak crying, lethargy, difficulty feeding leading to failure to thrive, as well as cryptorchidism in males and underdeveloped labia in females (19).…”

Section: Endocrine Featuresmentioning

confidence: 99%

Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

Madeo,

Zagaroli,

Vandelli

et al. 2024

Front. Endocrinol.

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Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discussed in literature. Patients with maternal disomy tend to have more frequent neurodevelopmental problems, such as autistic traits and behavioral issues, and generally have higher IQ levels compared to those with deletion of the critical PWS region. This has led us to review the pertinent literature to investigate the possibility of establishing connections between the genetic abnormalities and the endocrine disorders experienced by PWS patients, in order to develop more targeted diagnostic and treatment protocols. In this review, we will review the current state of clinical studies focusing on endocrine disorders in individuals with PWS patients, with a specific focus on the various genetic causes. We will look at topics such as neonatal anthropometry, thyroid issues, adrenal problems, hypogonadism, bone metabolism abnormalities, metabolic syndrome resulting from severe obesity caused by hyperphagia, deficiencies in the GH/IGF-1 axis, and the corresponding responses to treatment.

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“…Eleven subjects did not provide information on sex (Table 1). The median age of patients was 14 years (IQR: [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] and ranged between 0 and 48 years (Fig. 1A), with 162 subjects being equal to or older than 18 years, who were hereafter referred to as adult patients.…”

Section: Characteristics Of Subjectsmentioning

confidence: 99%

“…A more detailed understanding of the current medical state of adults with PWS is needed to provide a better transitional care program to patients with PWS. Although evidence on the health issues of adults with PWS overseas is increasing [18,19], limited information is currently available in Japan. Based on these backgrounds, we herein performed a questionnaire-based survey to clarify the current medical conditions of adults with PWS in Japan.…”

mentioning

confidence: 99%

A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care

Kawai¹,

Muroya²,

Murakami

et al. 2023

Endocr J

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Prader-Willi syndrome (PWS) is a multisystem disorder with increased mortality predominantly due to obesityassociated complications; therefore, the management of obesity has been centric to therapeutic strategies for PWS. Although a multidisciplinary team approach has been successful for this purpose during childhood, it is generally difficult to implement during adulthood because of the lack of a structured transitional care program. A more detailed understanding of the current medical conditions of adults with PWS is needed to establish this program; however, limited information is currently available on this issue in Japan. Accordingly, we performed a questionnaire-based survey on 425 patients with PWS. There were 162 adult patients aged 18 years or older with median body mass indexes (kg/m 2 ) of 29.4 and 30.4 in males and females, respectively. The frequencies of type 2 diabetes mellitus (T2DM) and hypertension in adults with PWS were 40.4 and 19.4%, respectively. Growth hormone (GH) therapy during childhood correlated with lower rates of T2DM and hypertension during adulthood. Among adult patients, 54% were treated by pediatricians, whereas 44% were seen by internists with an endocrinologist/diabetologist being the most prevalent. Adult patients treated with GH during childhood showed a higher rate of being seen by pediatricians than those without, demonstrating that the multidisciplinary team approach, typically applied with GH therapy, may be continuously provided even after they reach adulthood. These results emphasize the importance of the seamless provision of the multidisciplinary team approach, which is of clinical importance for establishing an optimal transitional care program for PWS.

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Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature

Cited by 13 publications

References 65 publications

Orthopedic manifestations in children with Prader-Willi syndrome

Orthopedic manifestations in children with Prader-Willi syndrome

Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care

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