Tratamiento con hormona de crecimiento en el síndrome de Prader-Willi

Gil, Eugènia Moix; Giménez-Palop, Olga; Caixàs, Assumpta

doi:10.1016/j.endinu.2018.01.006

Cited by 9 publications

(4 citation statements)

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“…However, early diagnosis combined with multidisciplinary care favourably influences the course of PWS 17 ; therefore, the diagnosis should be confirmed early during the neonatal period, 18 with the support of genetic testing development. 19 In this context, early GH treatment has beneficial outcomes on, for example, height, body composition, endurance and sense of wellbeing [20][21][22] ; furthermore, early treatment with recombinant GH positively affects the HRQoL of patients with PWS 23 and caregivers. 24 25 The social, relational, emotional and existential aspects of PWS remain profoundly unknown, and the debate within Italian clinical and social communities has been poor: the WHO has stressed the importance of researching the measurable dimensions of HRQoL and-more broadly-illness experiences in leading clinical and social practice and recommends using narrative research.…”

Section: Strengths and Limitations Of This Studymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research

et al. 2020

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ObjectivesPrader-Willi syndrome (PWS) significantly impacts health-related quality of life; however, its relational and existential aspects remain unknown in Italian clinical and social debate. The project aimed to investigate the impact of PWS on illness experience through narrative medicine (NM) to understand the daily life, needs and resources of patients with PWS and their caregivers, and to furnish insights for clinical practice.Design and settingThe project involved 10 medical centres of the Italian Network for Rare Diseases and PWS family associations and targeted underage and adult patients with PWS and their caregivers. Written interviews, composed by a sociodemographic survey and a narrative, were collected through the project’s website. Three dedicated illness plots employed evocative and open words to facilitate individual expression and to encourage reflection. Narratives were analysed through NVivo software. Researchers discussed the results with the project’s steering committee.ParticipantsTwenty-one children and adolescents and 34 adults with PWS joined the project, as well as 138 caregivers. A PWS diagnosis or the caregiving of a patient with PWS older than 5 years represented the eligibility criteria, as well as the willingness to share their illness experience by writing and the ability to communicate in Italian.ResultsThe analysis of narratives led to understanding the PWS social and relational issues concerning diagnosis and current management, PWS daily experiences and social contexts, PWS implications in the working sphere and participants’ future perspectives. Narratives demonstrated that PWS management affects relationships and work-life balance and that social stigma remains present.ConclusionThe project represented the first effort to investigate the impact of PWS on illness experience in Italy through NM while considering the perspectives of patients with PWS and their caregivers. The findings indicated that a multiprofessional approach is fundamental to ensure adequate treatment and provided elements for its improvement.

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Section: Strengths and Limitations Of This Studymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research

et al. 2020

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“…For this reason and as they get older, they need to be supervised nearly 24 h a day. Other classical characteristics are developmental delay (with learning and behavioral problems), short stature with small hands/feet, and hypogonadism/hypogenitalism due to growth and other hormone deficiencies [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Multidimensional Evaluation of Awareness in Prader-Willi Syndrome

Gómez

Coronas

Pousa

et al. 2021

JCM

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There are no studies about insight or awareness of illness in patients with Prader-Willi Syndrome (PWS). The objective of this study was to explore the level of awareness of the disorder, of the need for medication, and of the social consequences of the disease, as well as of its main symptoms in PWS. We also aimed to explore relationships between awareness and sociodemographic and clinical characteristics, and to compare all data with a matched sample of patients with psychosis. Insight was assessed by an Adapted version of the Scale of Unawareness of Mental Disorder in a cross-sectional pilot study at a University Hospital. Thirty-six individuals with PWS (58.3% women) were included. Results showed that PWS patients had a good awareness of the illness and of the effects of medication, in contrast to a lack of awareness of illness’ social consequences. Awareness of obesity/overweight was excellent, as was the awareness of excessive appetite. Awareness of excessive food intake was only mild. Insight correlated with age and functionality, but not with BMI. PWS patients showed a better insight into the illness but a similar awareness of the effects of the medication and of the social consequences of the disease as compared to schizophrenia-spectrum patients. This profile of insight may have relevant clinical implications.

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“…Prader–Willi Syndrome (PWS) is a rare genetic disease characterized by a series of disorders of hypothalamic functionalism: hyperphagia, obesity, hypogonadotropic hypogonadism, short stature due to GH deficiency [ 7 , 8 , 9 ], and cognitive, praxis, and behavioral disorders [ 10 , 11 , 12 ]. Up to 60% of adults with PWS have GH deficiency [ 13 ], which results in decreased muscle mass and strength and increased fat mass [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

Growth Hormone (GH) Treatment Decreases Plasma Kisspeptin Levels in GH-Deficient Adults with Prader–Willi Syndrome

Giménez-Palop

Casamitjana

Corripio

et al. 2021

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Obesity and growth hormone (GH)-deficiency are consistent features of Prader–Willi syndrome (PWS). Centrally, kisspeptin is involved in regulating reproductive function and can stimulate hypothalamic hormones such as GH. Peripherally, kisspeptin signaling influences energy and metabolic status. We evaluated the effect of 12-month GH treatment on plasma kisspeptin levels in 27 GH-deficient adult PWS patients and analyzed its relationship with metabolic and anthropometric changes. Twenty-seven matched obese subjects and 22 healthy subjects were also studied. Before treatment, plasma kisspeptin concentrations in PWS and obese subjects were similar (140.20 (23.5–156.8) pg/mL vs. 141.96 (113.9–165.6) pg/mL, respectively, p = 0.979)) and higher (p = 0.019) than in healthy subjects (124.58 (107.3–139.0) pg/mL); plasma leptin concentrations were similar in PWS and obese subjects (48.15 (28.80–67.10) ng/mL vs. 33.10 (20.50–67.30) ng/mL, respectively, p = 0.152) and higher (p < 0.001) than in healthy subjects (14.80 (11.37–67.30) ng/mL). After GH therapy, lean body mass increased 2.1% (p = 0.03), total fat mass decreased 1.6% (p = 0.005), and plasma kisspeptin decreased to levels observed in normal-weight subjects (125.1(106.2–153.4) pg/mL, p = 0.027). BMI and leptin levels remained unchanged. In conclusion, 12-month GH therapy improved body composition and decreased plasma kisspeptin in GH deficient adults with PWS. All data are expressed in median (interquartile range).

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Tratamiento con hormona de crecimiento en el síndrome de Prader-Willi

Cited by 9 publications

References 50 publications

Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research

Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research

Multidimensional Evaluation of Awareness in Prader-Willi Syndrome

Growth Hormone (GH) Treatment Decreases Plasma Kisspeptin Levels in GH-Deficient Adults with Prader–Willi Syndrome

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