Quality of life assessment in a sample of patients affected by Prader–Willi syndrome

Caliandro, Pietro; Grugni, Graziano; Padua, Luca; Kodra, Yllka; Tonali, P.; Gargantini, L; Ragusa, Letizia; Crinò, Antonino; Taruscio, Domenica

doi:10.1111/j.1440-1754.2007.01200.x

Cited by 29 publications

(25 citation statements)

References 16 publications

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“…In a study investigating HRQOL in 9 untreated children with PWS (age range 5-14 years) [8], HRQOL was found to be lower in children with PWS compared to a reference population. However, in that study, HRQOL was rated by parents only.…”

Section: Discussionmentioning

confidence: 99%

“…Two studies showed that GH treatment can improve the physical and psychological aspects of health-related quality of life (HRQOL) in adolescents and adults with PWS [7,8], but information about HRQOL or the effect of GH treatment on HRQOL in children with PWS is scarce. One study investigated HRQOL in 19 adolescents after 10 years of GH treatment and observed a lower HRQOL than in the general population on the items of mobility, breathing, speech, mental function, going to school, and getting and having friends [9].…”

Section: Introductionmentioning

confidence: 99%

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Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

Bakker

Siemensma²,

Rijn³

et al. 2015

Horm Res Paediatr

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Background/Aims: Growth hormone (GH) treatment is beneficial for children with Prader-Willi syndrome (PWS), but data about health-related quality of life (HRQOL) and effects of GH treatment are scarce. We, therefore, investigated the effects of GH treatment on HRQOL in PWS children. Methods: In a randomized controlled GH trial including 26 PWS children and during an 11-year longitudinal GH study in 76 children, we annually assessed HRQOL recorded by patients and parents, using a generic questionnaire (DUX25), containing 4 subdomains (Physical, Home, Social, and Emotional) and a PWS-specific questionnaire (DUXPW). Results: At baseline, PWS children rated HRQOL similar to or higher than healthy and obese children. GH-treated children reported an increase in HRQOL in the Physical and Social subdomains and the DUXPW compared to untreated children. Parents reported an increase in the Physical and Emotional subdomains and borderline in the total DUX25 compared to parents of untreated children. During the 11 years of GH treatment, the Physical subdomain continued to improve, according to parents, whereas the Home, Social and Emotional subdomains, the total DUX25, and the DUXPW remained similar, according to children and parents. Conclusions: PWS children rated HRQOL equally to or better than healthy and obese children. HRQOL increased during GH treatment, in contrast to HRQOL of untreated children. This effect was sustained during long-term GH treatment. PWS children consider themselves quite happy, despite some difficulties related to the syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

Bakker

Siemensma²,

Rijn³

et al. 2015

Horm Res Paediatr

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“…Tal es así, que durante las dos últimas décadas los investigadores han destacado la necesidad de evaluar la CV de los niños y niñas con ER, con el objetivo de determinar el impacto que estas enfermedades y los tratamientos tienen sobre sus vidas (Caliandro et al, 2007). Vivir con enfermedades y discapacidad puede afectar a la vida diaria en muchos aspectos.…”

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Enfermedades raras y discapacidad intelectual: evaluación de la calidad de vida de niños y jóvenes

Martín

Sánchez

Rodríguez

2016

Siglo Cero. Revista Española Sobre Discapacidad Intelectual

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Recepción: 3 de febrero de 2016 Fecha de aceptación definitiva: 30 de junio de 2016 reSuMen: Antecedentes. El principal objetivo de este trabajo ha sido evaluar la calidad de vida en niños y jóvenes con enfermedades raras y discapacidad intelectual, así como conocer la incidencia de determinadas variables (i. e., género, edad, nivel de discapacidad intelectual, tipo de escolarización, tipo de enfermedad y comunidad autónoma) en la variable criterio. Método. Para ello se ha utilizado la Escala KidsLife, elaborada según el modelo de ocho dimensiones de calidad de vida de Schalock y Verdugo. La muestra estuvo formada por 103 participantes con enfermedades raras y discapacidad intelectual, con edades comprendidas entre 3 y 21 años, que recibían apoyos en alguna organización proveedora de servicios educativos, sociales o sanitarios. Resultados. Las puntuaciones más altas se corresponden con la dimensión bienestar físico, mientras que la dimensión inclusión social es la que obtiene puntuaciones más bajas. El nivel de discapacidad intelectual y el de necesidades de apoyo dieron lugar a diferencias significativas en la puntuación total de la escala. El análisis de cada una de las dimensiones muestra diferencias según el género, nivel de discapacidad intelectual y tipo de escolarización. Conclusión. Los resultados abogan por el diseño de prácticas que permitan la mejora de

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“…child psychiatrists, pediatric endocrinologists, clinical geneticists, orthopedic specialists, educational psychologists, and social workers). However, all these professional figures should know what the patient wants and what kind of relationship there is between the traditional clinical outcome measures and the patient's perspective 4) . Over the last two decades, clinical researchers have emphasized the need for a thorough evaluation of the patient's QoL in order to study the impact of chronic illnesses and their treatments on the patient's life 5) .…”

mentioning

confidence: 99%

“…There are few reports on QoL in patients with PWS. Caliandro et al reported an assessment of QoL in patients with PWS in Italy 4) . They performed a multi-center study on 40 consecutive patients with PWS evaluated through the Short Form-36 and the Child Health Questionnaire-Parent Form-50 according to the age of patients, which showed intensely impaired QoL in mental and physical aspects.…”

mentioning

confidence: 99%

Quality of Life in Prader-Willi Syndrome Patients

Kim¹,

Cho²,

Jin³

2015

Journal of mucopolysaccharidosis and rare disease

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Prader-Willi syndrome (PWS), a complex multisystem genetic disorder, is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13 1) . PWS has various characteristic features, including neonatal hypotonia, developmental delay, short stature, behavioral abnormalities, childhood-onset obesity, hypothalamic hypogonadism, and characteristic appearance 2). The course and early natural history of PWS patients can be divided into two generally recognized clinical stages. Symptoms of PWS include infantile hypotonia and failure to thrive in the neonatal and early infancy period, followed by life-long hyperphagia, developmental delays, moderate-to-severe behavioral problems, and several physical problems that impact health.Regarding on the hyperphagia period, PWS patients are unable to control food intake and will overeat if not monitored. Their food-seeking behaviors and low metabolic rate make them obese. Obesity is the greatest threat to their health, and these patients often die young from obesity-related complications. While no medications are currently known to aid in controlling hyperphagia, human growth hormone is used for the treatment of PWS because it can help normalize height, increase lean body mass and mobility, and decrease fat mass 3) . Other symptoms associated with PWS usually include cognitive challenges and learning disabilities, growth hormone deficiency and short stature, small hands and feet, scoliosis, sleep disturbances with excessive daytime sleepiness, high pain threshold, difficulties with speech and movement, and infertility. Behavioral difficulties may include obsessive-compulsive symptoms, skin picking, and difficulty controlling emotions. Treatments for many of these secondary complications include education planning, speech therapy, and growth and sex hormone replacement therapy. Serotonin reuptake inhibitors (SRIs) are also helpful for most teenagers and adults in managing mood-related symptoms.The complex genetics, etiology, multiple phenotypes, and evolving natural history of PWS suggest that a multidisciplinary professional, parental, societal, and environmental approach to the management of these patients is required for overcoming the many challenges of reducing morbidity and mortality and improving patient quality of life (QoL) 1) . The multidisciplinary team involved in the care of PWS patients and their families should include several medical and non-medical professional figures (e.g. child psychiatrists, pediatric endocrinologists, clinical geneticists, orthopedic specialists, educational psychologists, and social workers). However, all these professional figures should know what the patient wants and what kind of relationship there is between the traditional clinical outcome measures and the patient's perspective 4) . Over the last two decades, clinical researchers have emphasized the need for a thorough evaluation of the patient's QoL in order to study the impact of chronic illnesses and their treatments on the patient's life 5) . The ne...

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Quality of life assessment in a sample of patients affected by Prader–Willi syndrome

Cited by 29 publications

References 16 publications

Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

Enfermedades raras y discapacidad intelectual: evaluación de la calidad de vida de niños y jóvenes

Quality of Life in Prader-Willi Syndrome Patients

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