Materiały źródłowe

• #1 Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02302-z

  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. […] 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. […] Early diagnosis and treatment can significantly improve the prognosis. However, misdiagnosis, missed diagnosis and inappropriate intervention were usually noted. […] The diagnosis of PWS relies on a combination of clinical features and genetic analysis. […] Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feeding and prevent early obesity in PWS infants.

• #1 Prader-Willi syndrome | MedLink Neurology

  https://www.medlink.com/articles/prader-willi-syndrome

  Prader-Willi syndrome is considered a sporadic genetic syndrome with low recurrence rates. […] In rare cases in which inheritable genetic mutations are identified, genetic counseling can help families make informed decisions for future pregnancies. […] Prenatal testing to detect Prader-Willi syndrome can be conducted for certain high-risk pregnancies. […] A small recurrence risk (less than 1 in 1000) has been cited for families with one child with Prader-Willi syndrome. […] In order to ascertain the risk of recurrence, it is essential to characterize the molecular genetic basis for Prader-Willi syndrome in each patient. […] For those with deletions, uniparental disomy, and de novo balanced translocations, the recurrence risk is low. […] Where the proband is found to have an imprinting center mutation, however, the recurrence risk is 50%.

• #1 Prader-Willi syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/prader-willi-syndrome/symptoms-causes/syc-20355997

  If you have a child with Prader-Willi syndrome and would like to have another baby, think about getting genetic counseling. A genetic counselor can help you figure out the risk of having another child with Prader-Willi syndrome.

• #1 Prader-Willi syndrome | MedLink Neurology

  https://www.medlink.com/articles/prader-willi-syndrome

  In such situations, further cases can be prevented via prenatal diagnosis. […] A second scenario exists in which accurate prenatal diagnosis can prevent the birth of a child with Prader-Willi syndrome. […] In pregnancies where trisomy 15 is identified on chorionic villus sampling, the fetal cells should be evaluated for the presence of maternal disomy for chromosome 15. […] There is preliminary evidence to suggest that it may be possible to detect the presence of Prader-Willi syndrome in early third trimester fetuses on the basis of a signature ultrasound phenotype.

• #1 Age at onset of inappropriate weight gain in prader-Willi syndrome; an opportunity for obesity prevention | Archives of Disease in Childhood

  https://adc.bmj.com/content/97/Suppl_1/A119.1

  The critical age of excessive BMI increase in most PWS subjects is between 1 and 2 years, regardless the measured factors except of birth weight and Gestational age, suggesting other underlying path-physiological factors. […] Structured input from a multidisciplinary team should be intensified at one year of life to pre-empt this trend.

• #1 Obesity management in Prader-Willi syndrome: current perspective | DMSO

  https://www.dovepress.com/obesity-management-in-prader-willi-syndrome-current-perspectives-peer-reviewed-fulltext-article-DMSO

  Prader-Willi syndrome (PWS) is a complex multisystem disorder due to the absent expression of the paternally active genes in the PWS critical region on chromosome 15 (15q11.2-q13). […] Prevention of obesity is mandatory in these patients from the first years of life, because once obesity develops it is difficult to maintain the control of food intake. […] Consequently, dietary restriction, physical activity, and behavior management are fundamental in the prevention and management of obesity in PWS. […] In any case, prevention of obesity is very important in these patients from the very first years of life because when obesity has already developed it is not possible to maintain a control of food intake. […] It follows that prevention of obesity remains the most important goal of the PWS therapeutic strategy.

• #1 Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02302-z

  Management of the manifestations of PWS depends on age and should include guidance to manage the consequences and expectations of the syndrome. Multidisciplinary treatment has been shown to reduce hospital stays and prevent early obesity. […] The earlier growth hormone therapy is started, the more benefit it has (often around 36 month of age). […] It is recommended to perform polysomnography before starting treatment and periodically after, monitoring growth rate, glucose profile, IGF-1 levels, thyroid function, monitoring development and/or progression of scoliosis during growth. […] Routine vaccination is recommended for patients with PWS when their conditions are stable and there are no other contraindications, such as severe malnutrition or infection.

• #1 Guide | Physical Therapy Guide to Prader-Willi Syndrome | Choose PT

  https://www.choosept.com/guide/physical-therapy-guide-prader-willi-syndrome

  Because the genetic change that causes PWS happens at random when the baby is developing in the womb, there is no way to prevent it. […] Improvements in care mean many people with PWS can now live a full lifespan. Physical therapists and other health care providers can help lessen some of the effects of the syndrome, including obesity and a potential inactive lifestyle.

• #1 What are the treatments for Prader-Willi syndrome (PWS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  https://www.nichd.nih.gov/health/topics/prader-willi/conditioninfo/treatments

  Strict supervision of daily food intake. […] A well-balanced, low-calorie diet and regular exercise are essential and must be maintained for the rest of the individual’s life. […] Ongoing consultation with a dietitian to guarantee adequate vitamin and mineral intake, including calcium and vitamin D, might be needed. […] Placement in group homes during adulthood. Group homes offer necessary structure and supervision for adults with PWS, helping them avoid compulsive eating, severe obesity, and other health problems.

• #1

  https://www.nhs.uk/conditions/prader-willi-syndrome/living-with/

  There’s no cure for Prader-Willi syndrome, but your child will have support from healthcare professionals who will help you manage the condition. […] The most important aspect of caring for someone with Prader-Willi syndrome is trying to manage their diet and prevent them gaining too much weight. It’s also probably one of the biggest challenges. […] A dietitian can give you information about what food to give. […] It’s also important to let relatives, friends, other parents and teachers know about the need to restrict the person’s diet. […] Some medicines have been used to try to suppress appetites, but have all been unsuccessful. […] Weight loss surgery is not recommended for people with Prader-Willi syndrome because they are not able to stick to the strict diet required after surgery.

• #1 Obesity management in Prader-Willi syndrome: current perspective | DMSO

  https://www.dovepress.com/obesity-management-in-prader-willi-syndrome-current-perspectives-peer-reviewed-fulltext-article-DMSO

  Current standard therapies […] A program of a low-calorie, well-balanced diet and close supervision to minimize food stealing must be established from the first months of life in order to prevent obesity and its consequences, in addition to exercise and behavior modification. […] Management also means locks on pantries, fridges, food cupboards not straight away, but when food seeking becomes apparent. […] The support of teachers, grandparents, carers, and family friends is needed to help ensure that children adhere to prescribed diet, eating routines, healthy eating behaviors, and daily exercise. […] Therefore, physical exercise should be part of the regular routine in these patients, together with occupational and behavioral therapy. […] In conclusion, the treatment of obese PWS patients requires a multidisciplinary approach, from a pediatrician, endocrinologist, dietician, clinical geneticist, physical therapist, psychiatrist, and surgeon, in order to provide appropriate care for the complex phenotype of PWS patients.

• #1 Prader-Willi syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/prader-willi-syndrome/diagnosis-treatment/drc-20356002

  Learn about Prader-Willi syndrome. Work with your child’s healthcare team to learn about the condition and create a care plan to manage symptoms and issues. Managing hormone levels and weight can improve development and behavior and prevent complications. […] Stick to a strict meal plan. To keep from becoming overweight, your child needs a low-calorie diet. Structure mealtimes and the types of food served at meals to create routines and help your child learn expectations. […] Encourage regular daily activity. Being more physically active and exercising can help manage weight and make your child better able to function physically. […] Schedule regular medical care. Talk with your healthcare professional about a regular schedule of health appointments and tests to check for problems or complications.

• #1

  https://www.nhs.uk/conditions/prader-willi-syndrome/living-with/

  Exercise plays an important part in helping your child maintain a healthy weight. […] It’s important not to promise food as a reward to encourage exercise because it can encourage unhealthy behaviour. […] Treatment with an artificial version of the human growth hormone (HGH) is usually recommended for children with Prader-Willi syndrome. […] Starting treatment with HGH is usually recommended during early childhood, from 6 months to 2 years of age, and normally continues until the end of growth. […] It’s usual to replace female sex hormones (often with the combined oral contraceptive pill) to encourage development of secondary sex characteristics (breast development) and periods. […] Replacing the male sex hormone (testosterone) is more contentious. […] Many children with Prader-Willi syndrome will try to take food if they get the opportunity.

• #1 Prader–Willi Syndrome: Possibilities of Weight Gain Prevention and Treatment

  https://www.mdpi.com/2072-6643/14/9/1950

  Prader–Willi syndrome (PWS) is a complex genetic disorder which involves the endocrine and neurologic systems, metabolism, and behavior. The aim of this paper is to summarize current knowledge on dietary management and treatment of PWS and, in particular, to prevent excessive weight gain. […] Nutritional management by nutritionists and gastroenterologists plays a major role in weight control in children with PWS, and specifically in terms of dietary intake. […] Preventive methods for weight management in PWS must be performed simultaneously by using dietary, physical activity and behavioral interventions. The role of a multidisciplinary team is mandatory to treat these children. […] GH treatment could also have an important role in the prevention of obesity, when initiated during infancy. […] Early diagnosis, a strict diet regimen, physical activity, follow-up by multidisciplinary teams and growth hormone treatment have improved our understanding of the cognitive and physical issues in recent years, and helped improve the lives of many with PWS.

• #1 Multicentre Study of Early Screening and Prevention of Prader–Willi Syndrome | ESPE2015 | 54th Annual ESPE (ESPE 2015) | ESPE Abstracts

  https://abstracts.eurospe.org/hrp/0084/hrp0084p3-1139

  Multicentre Study of Early Screening and Prevention of Prader-Willi Syndrome […] Screening using MS-PCR in suspected cases is critical to identify PWS patients. […] GH treatment during infancy can improve physical development in PWS patients, however how to improve cognitive development and function of endocrine system in PWS patients requires future studies.

• #1 Prader-Willi Syndrome Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/947954-followup

  Patients with Prader-Willi syndrome have hyperphagia and require restricted access to foods to minimize weight gain. Binge-eating episodes may predispose patients to development of food poisoning and acute gastric dilation. Caregivers of patients with Prader-Willi syndrome should be instructed in the Heimlich maneuver. […] Routinely monitor for symptoms of sleep apnea. Obtain a sleep study within the few months after initiation of growth hormone therapy at the first sign of symptoms. […] Routinely screen children for scoliosis. […] Regularly screen patients with obesity for evidence of type 2 diabetes mellitus. […] Screen for thyroid and adrenal function, when indicated.

• #1 Choking Education an Important Element of Care for Prader-Willi Syndrome Families – Pediatrics Nationwide

  https://pediatricsnationwide.org/2020/07/31/choking-education-an-important-element-of-care-for-prader-willi-syndrome-families/

  Choking prevention and intervention education offer a simple way to address this common cause of death among PWS patients. […] “It was clear that we needed to offer our families choking-related education and some first aid training,” says Moffett. “Obviously, our goal is that nobody chokes, but if something does happen, we want families to know what to do.” […] Families also received a choking education packet that included both PWS-specific and generic choking information, enabling the team to emphasize the importance of food security practices such as designating a “food watcher” during holiday events and changes in routine, avoiding high-risk foods, cutting all foods into small pieces, locking cupboards and fridges, sharing the information with schools and care assistants and more. […] “We believe in the simplicity and importance of this training so much that it has become a permanent and widespread change in practice for us,” says Moffett, who presented the team’s QI results at the PENS Conference in 2019. “It should be part of family education in every PWS clinic.”

• #1 Prader-Willi Syndrome: Life Expectancy, Prevention, and More

  https://www.healthline.com/health/prader-willi-syndrome-life-expectancy

  Early diagnosis, understanding of complications, and continued treatment may help prevent early death for people with PWS. […] Treatment that reduces the drive to eat may help with this symptom and prevent occurrences such as choking and obesity that lead to accidents and health complications. […] Treating low growth hormone issues may also help. In 2000, the Food and Drug Administration (FDA) approved treatment with human growth hormone. Since this became available, people with PWS started having longer life spans. […] PWS itself does not shorten a persons life expectancy. Early diagnosis and appropriate treatment may prevent associated complications from becoming life threatening.

• #1 Prader–Willi Syndrome and Weight Gain Control: From Prevention to Surgery—A Narrative Review

  https://www.mdpi.com/2227-9067/10/3/564

  Severe obesity remains one of the most important symptoms of Prader–Willi Syndrome (PWS), and controlling weight represents a crucial point in the therapeutical approach to the syndrome. […] Early diagnosis, a controlled diet regimen, regular exercise, follow-up by multidisciplinary teams, and hormonal treatment have improved the management of excessive weight gain. […] The importance of consulting different healthcare specialists, starting from the neonatal and pediatric ages, was also considered as a crucial approach to controlling weight and limiting and preventing the onset of obesity and its complications. […] In selected cases, a surgical approach could be also considered. […] Controlling weight in PWS is a challenge for pediatricians. […] Multidisciplinary approaches and lifelong follow-up are the keys to ameliorating the quality of life of these patients and reducing the risk of obesity-related complications.

• #1 What Is Prader-Willi Syndrome? Causes, Symptoms & Treatment

  https://www.medicinenet.com/what_is_prader-willi_syndrome/article.htm

  Prader-Willi syndrome (PWS) may benefit from early diagnosis and supportive management to improve their quality of life. […] Currently, there is no treatment for Prader-Willi syndrome (PWS). However, people with PWS may benefit from early diagnosis and supportive management to improve their quality of life. […] A dietitian can assist in developing a nutritious, low-calorie diet to help manage weight while maintaining sufficient nutrition. […] Increasing physical activity and exercise aids in weight management and physical development. […] Because behavioral problems associated with PWS can disrupt life at school, social relationships, and family life, it is important for children with the condition to have support from their family and friends and professional support. […] Counseling can help people and their families cope with the emotional aspects of the disease.

• #1

  https://www.nhs.uk/conditions/prader-willi-syndrome/living-with/

  Tips to prevent taking food include trying to establish a contract to reward good behaviour. […] Controlling the urge to take food should always be highly praised and persistent good behaviour rewarded. […] Treatments that are moderately effective in helping prevent people with Prader-Willi syndrome from picking their skin are cognitive behavioural therapy (CBT) and medicine.

• #1 Prader-Willi Syndrome Association of WI – What is PWS?

  https://pwsaofwi.org/WhatsPWS

  PWS can occur in any family, and cannot be prevented. There is no known cause. […] Those who have PWS need intervention and strict external controls, sometimes including padlocking access to food, to maintain normal weight and to help save their lives. […] Early diagnosis of Prader-Willi syndrome gives parents time to learn about and prepare for the challenges that lie ahead and to establish family routines that will support their child’s diet and behavior needs from the start. […] Even those with IQs in the normal range need lifelong diet supervision and protection from food availability. […] Although in the past many people with PWS died in adolescence or young adulthood, prevention of obesity can enable those with the syndrome to live a normal lifespan.

• #2 Prader-Willi Syndrome (PWS): Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/prader-willi-syndrome

  There is no known way to prevent Prader-Willi syndrome. The genetic changes that cause the disorder to happen randomly and are not passed down from parent to child. […] For couples who have a child with Prader-Willi syndrome, a genetic counselor may be able to help determine the risk of having a second child with the disorder through genetic testing. This risk depends on the genetic cause of Prader-Willi syndrome in the first child.

• #2 Mayo Clinic Health Library – Prader-Willi syndrome | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20257463

  If you have a child with Prader-Willi syndrome and would like to have another baby, think about getting genetic counseling. A genetic counselor can help you figure out the risk of having another child with Prader-Willi syndrome. […] If you have a child with Prader-Willi syndrome and would like to have another baby, think about getting genetic counseling. A genetic counselor can help you figure out the risk of having another child with Prader-Willi syndrome.

• #2 Multicentre Study of Early Screening and Prevention of Prader–Willi Syndrome | ESPE2015 | 54th Annual ESPE (ESPE 2015) | ESPE Abstracts

  https://abstracts.eurospe.org/hrp/0084/hrp0084p3-1139

  Multicentre Study of Early Screening and Prevention of Prader-Willi Syndrome […] Screening using MS-PCR in suspected cases is critical to identify PWS patients. […] GH treatment during infancy can improve physical development in PWS patients, however how to improve cognitive development and function of endocrine system in PWS patients requires future studies.

• #2 Prader-Willi syndrome // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/prader-willi-syndrome

  If you have a child with Prader-Willi syndrome and would like to have another baby, think about getting genetic counseling. A genetic counselor can help you figure out the risk of having another child with Prader-Willi syndrome. […] A dietitian can help you create a healthy, reduced-calorie diet to help manage your child’s weight while ensuring proper nutrition. […] Managing hormone levels and weight can improve development and behavior and prevent complications. […] To keep from becoming overweight, your child needs a low-calorie diet. […] Being more physically active and exercising can help manage weight and make your child better able to function physically. […] Schedule regular medical care. Talk with your healthcare professional about a regular schedule of health appointments and tests to check for problems or complications.

• #2 Prader-Willi syndrome | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20257463/

  If you have a child with Prader-Willi syndrome and would like to have another baby, think about getting genetic counseling. A genetic counselor can help you figure out the risk of having another child with Prader-Willi syndrome. […] Managing hormone levels and weight can improve development and behavior and prevent complications. […] To keep from becoming overweight, your child needs a low-calorie diet. Structure mealtimes and the types of food served at meals to create routines and help your child learn expectations. […] Being more physically active and exercising can help manage weight and make your child better able to function physically. […] Talk with your healthcare professional about a regular schedule of health appointments and tests to check for problems or complications.

• #2 Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02302-z

  Management of the manifestations of PWS depends on age and should include guidance to manage the consequences and expectations of the syndrome. Multidisciplinary treatment has been shown to reduce hospital stays and prevent early obesity. […] The earlier growth hormone therapy is started, the more benefit it has (often around 36 month of age). […] It is recommended to perform polysomnography before starting treatment and periodically after, monitoring growth rate, glucose profile, IGF-1 levels, thyroid function, monitoring development and/or progression of scoliosis during growth. […] Routine vaccination is recommended for patients with PWS when their conditions are stable and there are no other contraindications, such as severe malnutrition or infection.

• #2

  https://www.neurologylive.com/authors/eric-baron

  FDA Approves Diazoxide Choline Extended-Release Tablets for Hyperphagia in Prader-Willi Syndrome […] FDA Approves Diazoxide Choline Extended-Release Tablets for Hyperphagia in Prader-Willi Syndrome

• #2

  https://apcz.umk.pl/QS/article/view/52948

  Prader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder, in which the central clinical characteristics are hyperphagia and obesity. Obesity leads to higher mortality rates in PWS patients and thus, effective and safe treatment of hyperphagia and obesity in PWS individuals is an important aspect of PWS therapy. […] The aim of the study was to research both the new and the more standard treatment options of hyperphagia and obesity in PWS patients. […] Our research showed that in the treatment of hyperphagia and obesity in PWS patients, health professionals may consider the use of pharmacological treatment options, surgery and neuromodulatory options. Moreover, physical activity and environmental control are beneficial in limiting caloric intake and improving body mass index. Furthermore, early diagnosis and thus starting treatment in early childhood are beneficial in preventing the progression of obesity. However, more research is needed to determine which treatment options are best suited for specific patients. […] Prader-Willi Syndrome: Possibilities of Weight Gain Prevention and Treatment. […] PraderWilli Syndrome and Weight Gain Control: From Prevention to SurgeryA Narrative Review.

• #2 Prader-Willi Syndrome: Life Expectancy, Prevention, and More

  https://www.healthline.com/health/prader-willi-syndrome-life-expectancy

  Early diagnosis, understanding of complications, and continued treatment may help prevent early death for people with PWS. […] Treatment that reduces the drive to eat may help with this symptom and prevent occurrences such as choking and obesity that lead to accidents and health complications. […] Treating low growth hormone issues may also help. In 2000, the Food and Drug Administration (FDA) approved treatment with human growth hormone. Since this became available, people with PWS started having longer life spans. […] PWS itself does not shorten a persons life expectancy. Early diagnosis and appropriate treatment may prevent associated complications from becoming life threatening.

• #3 Guide | Physical Therapy Guide to Prader-Willi Syndrome | Choose PT

  https://www.choosept.com/guide/physical-therapy-guide-prader-willi-syndrome

  Because the genetic change that causes PWS happens at random when the baby is developing in the womb, there is no way to prevent it. […] Improvements in care mean many people with PWS can now live a full lifespan. Physical therapists and other health care providers can help lessen some of the effects of the syndrome, including obesity and a potential inactive lifestyle.

• #3 Prader-Willi syndrome | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20257463/

  If you have a child with Prader-Willi syndrome and would like to have another baby, think about getting genetic counseling. A genetic counselor can help you figure out the risk of having another child with Prader-Willi syndrome. […] Managing hormone levels and weight can improve development and behavior and prevent complications. […] To keep from becoming overweight, your child needs a low-calorie diet. Structure mealtimes and the types of food served at meals to create routines and help your child learn expectations. […] Being more physically active and exercising can help manage weight and make your child better able to function physically. […] Talk with your healthcare professional about a regular schedule of health appointments and tests to check for problems or complications.

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