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Prader-Willi Syndrome: Symptoms, warning signs, and causes They will have a range of learning difficulties even if their IQ is not affected. This shows if there's a problem with the gene that can cause PWS. Bethesda, MD 20894, Web Policies Some people are not accurately diagnosed until they are in their 20s or 30s. PMC In the study of caregivers of children ranging from less than 1 year to 18 years, dietetic and paediatric researchers investigated the impact of weight gain on health and wellbeing in patients with Prader-Willi syndrome. Prader-Willi syndrome is a genetic disorder that causes poor muscular tone (severe hypotonia), feeding problems, and delayed growth in infants. Secondary endpoints are total fat mass, bone density, physical health and psychosocial health. sharing sensitive information, make sure youre on a federal Journal of Child and Adolescent Psychopharmacology, 22(5), 396398. Adult Prader-Willi Syndrome: An Update on Management Use to remove results with certain terms The trusted provider of medical information since 1899, Overview of Chromosome and Gene Disorders, Overview of Chromosomal Deletion Syndromes, Full review/revision Dec 2021 | Modified Sep 2022. Children have bone disorders (such as scoliosis Scoliosis Scoliosis is abnormal curvature of the spine. healthdirect's information and advice are developed and managed within a rigorous About 30% of people who have this syndrome have problems with the function of Studies a U.S. FDA-regulated Drug Product: Studies a U.S. FDA-regulated Device Product: Product Manufactured in and Exported from the U.S.: Change in lean body mass [TimeFrame:36 months], Change in fat mass [TimeFrame:36 months], Change in bone density [TimeFrame:36 months], Change in physical strength [TimeFrame:36 months], Change in laboratory measurements [TimeFrame:36 months], Low-density lipoprotein cholesterol (mmol/L), High-density lipoprotein cholesterol (mmol/L), Change in psychosocial functioning [TimeFrame:36 months], Change in caregiver burden [TimeFrame:36 months], Change in weight and waist-hip ratio [TimeFrame:36 months], Change in blood pressure [TimeFrame:36 months], Occurence of side-effects [TimeFrame:36 months], The patient is diagnosed with Prader-Willi syndrome (genetically confirmed), Poorly controlled diabetes (HbA1c > 64 mmol/mol (8%)), Untreated obstructive sleep apnea (apnea-hypopnea index > 5). In Pagon, R. A., Bird, T. D., Dolan, C. R., Stephens, K., Adam, M. P. (See also Genes and Chromosomes.) HHS Vulnerability Disclosure, Help Please select the most appropriate category to facilitate processing of your request. WebOnly Human is a documentary shown on Channel 4 in the UK giving an insight into daily lives of people with various disabilities and special needs, as well as various other (2013). Recommendations for the diagnosis and management of Prader-Willi syndrome. Other sources suggest Listing a study does not mean it has been evaluated by the U.S. Federal Government. Privacy Policy and Symptoms may include alterations to the persons speech, mobility, memory and even personality. Obsessive-Compulsive Disorder (OCD) and Related Disorders in Children and Adolescents. Pujol J, Blanco-Hinojo L, Esteba-Castillo S, Caixs A, Harrison BJ, Bueno M, Deus J, Rigla M, Maci D, Llorente-Onaindia J, Novell-Alsina R. J Psychiatry Neurosci. We recognise their continuing connection to land, water and community. Morgan JR, Storch EA, Woods DW, Bodzin D, Lewin AB, Murphy TK. These trusted information partners have more on this topic. 2008;69(1):4552. working in partnership with your childs professionals, National Disability Insurance Scheme (NDIS), facial features like a narrow bridge of the nose, a high and narrow forehead, a thin upper lip and downturned mouth, almond-shaped eyes and a, problems regulating body temperature, which means children might not get fevers when they have infections, lighter skin, eyes and hair compared with other family members, difficulty with maths, reading and writing, difficulty recognising and interpreting sounds, difficulty with organising information, problem-solving and planning. Global Growth Hormone Study in Adults With Prader-Willi Syndrome WebPrader-Willi syndrome is a complex genetic condition. Horm Res. This site needs JavaScript to work properly. The genetic changes that cause Prader-Willi syndrome occur in a portion of the chromosome, referred to as the Prader-Willi critical region (PWCR), around the time of conception or during early fetal development. o [teenager OR adolescent ], , MD, Sidney Kimmel Medical College at Thomas Jefferson University, (See also Overview of Chromosome Disorders Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. Web68011218 - MeSH Result. Early intervention should also include helping you learn how to spend time with your child in ways that support their development. Daily science news on research developments and the latest scientific innovations, The latest engineering, electronics and technology advances, The most comprehensive sci-tech news coverage on the web. (2001). Learn more here about the development and quality assurance of healthdirect content. Journal of the American Academy of Child & Adolescent Psychiatry, 38(6), 761769. Prader-Willi Syndrome Description Prader-Willi Syndrome (PWS) is a complex genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity. Bethesda, MD 20894, Web Policies If PWS is suspected, genetic testing can be done to reliably confirm the diagnosis. Warning: This website and the information it contains is not intended as a substitute for professional consultation with a qualified practitioner. The primary objective is to measure the effect of GHt on lean body mass as measured by Dual Energy X-ray Absorptiometry scan in adults of 30 years or older Combined with an insatiable appetite, this can lead to life-threatening obesity. Keywords: Children rapidly gain weight. Prader-Willi syndrome is a rare condition that causes physical, mental, and behavioral problems. Tauber M, Speakers contributors at the second expert meeting of the Comprehensive Care of Patients with PWS. WebMD does not provide medical advice, diagnosis or treatment. In addition, we found that quality of life in the patient and the entire family is negatively impacted by increased weight.". Complication; Feature, perinatal; Prader-Willi syndrome. Although its easy to get caught up in looking after your child with Prader-Willi syndrome, its important to look after your own wellbeing too. Prader We pay our respects to the Traditional Owners and to Elders both past and WebIn this case, when the paternal contribution is lost, the result is a condition known as Prader-Willi syndrome (PWS). This website is certified by Health On the Net Foundation (HON) and complies with the HONcode standard for trustworthy health information. -. a complex neurodevelopmental disease that is caused by absence of paternal expressed imprinting genes at chromosome 15q1113 region. Maternal age and pre-pregnancy weight were significantly higher in the UPD group (both P < 0.05). Benjamin, E., & Buot-Smith, T. (1993). Would you like email updates of new search results? The signs and symptoms of Prader-Willi syndrome vary. -, Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Genetic testing can confirm the chance that a sibling might be born with Prader-Willi syndrome. Early intervention can improve outcomes for children with Prader-Willi. Prader-Willi syndrome is a chromosomal deletion syndrome in which part of chromosome 15 is missing. Neurodevelopmental disorder; PraderWilli syndrome; Self-injurious behaviour; Skin picking. Many research studies show that human growth hormone is beneficial. Brought to you by Merck & Co, Inc., Rahway, NJ, USA (known as MSD outside the US and Canada)dedicated to using leading-edge science to save and improve lives around the world. Concerns mounting for 'vulnerable' Rainworth man - Chad Prader-Willi syndrome: MedlinePlus Genetics Typically, doctors suspect Prader-Willi syndrome based on signs and symptoms. . The site is secure. People with PWS simply cannot control their appetite their brain doesnt tell them they have had enough to eat. Would you like email updates of new search results? Antidepressants, like selective serotonin reuptake inhibitors (SSRIs), may help ease behavior problems caused by PWS. It stems from a problem with one of your chromosomes (a strand of DNA that A baby may show signs of PWS early on. The information you enter will appear in your e-mail message and is not retained by Medical Xpress in any form. What causes Prader-Willi syndrome Unauthorized use of these marks is strictly prohibited. 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View this study on Beta.ClinicalTrials.gov, Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Skin Picking in People with Prader-Willi Syndrome - PubMed Prader-Willi syndrome (PWS) is Diagnostic and statistical manual of mental disorders (5th ed.). https://publications.aap.org/pediatrics/article/108/5/e92/63709/The-Changing-Purpose-of-Prader-Willi-Syndrome, http://www.ncbi.nlm.nih.gov/books/NBK1330, https://pubmed.ncbi.nlm.nih.gov/29271568/, Spotlight: Food for Health: Nutrition Research across the Lifespan, Experimental therapy for Prader-Willi syndrome shows promise in mice, National Child & Maternal Health Education Program, Extremely weak muscles in the body's torso, Difficulty sucking, which improves after the first few months, Feeding difficulties and/or failure to grow, requiring feeding assistance, such as feeding tubes or special nipples to aid in sucking, Beginning of rapid weight gain, between ages 1 and 6, resulting in severe obesity, Specific facial features, including narrow forehead and downturned mouth, Reduced development of the genital organs, including small genitalia (vaginal lips and clitoris in females and small scrotum and penis in males); incomplete and delayed puberty; infertility, Developmental delays, mild-to-moderate intellectual disability, multiple learning disabilities, Decreased movement and noticeable fatigue during infancy, Behavioral problems-specifically, temper tantrums, obsessive-compulsive behavior, stubbornness, rigidity, stealing, and lying (especially related to food), Sleep problems, including daytime sleepiness and sleep disruption, Short stature, compared with other members of the family, noticeable by age 15, Small hands and feet in comparison to standards for height and age, Nearsightedness and/or difficulty focusing both eyes at the same time, Earlier-than-usual activity in the adrenal glands, which can lead to early puberty, Especially brittle bones (called osteoporosis). ClinicalTrials.gov Identifier: NCT04484051, Growth Hormone Study in Adults With Prader-Willi Syndroom, Routine clinical care with Genotropin treatment, 18 Years and older (Adult, Older Adult), Erasmus MC, University Medical Center Rotterdam, Rotterdam, Zuid-Holland, Netherlands, 3015GD, Contact: Laura de Graaff, MD, PhD 0031618843010, dr. Laura C. G. de Graaff-Herder, MD, PhD, Erasmus Medical Center. The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Visit healthdirect's genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information. They also use genetic testing. Prader-Willi syndrome (PWS) is a rare genetic condition that results in a variety of symptoms. Prader-Willi Syndrome (PWS) is a rare genetic disorder which affects a number of systems in the body, including hunger and thirst. They need care to keep them away from food and control their weight. Epub 2018 May 18. Talking to other parents can be a great way to get support too. 2017;12(1):118. doi: 10.1186/s13023-017-0673-6. 82.8% of the patients were born by caesarean section. Your feedback is important to us. Epub 2014 Jun 19. Apart from any fair dealing for the purpose of private study or research, no We hypothesize that growth hormone treatment will improve the physical and psychosocial health. Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. J Clin Med. Diagnosing PWS as early as possible allows treatments that can help significantly with some of the symptoms. To measure the effect of GHt on physical and psychosocial health in adults with PWS. Your email is invalid. o [ pediatric abdominal pain ] WebPrader-Willi syndrome is a rare complex genetic disorder involving many different systems in the body, including the hypothalamus and pituitary gland, which are parts of the brain controlling hormones and other important functions such as appetite. Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. The content is provided for information purposes only. Akefeldt, A., & Gillberg, C. (1999). Other physical signs and symptoms can include: Cognitive signs Most children with Prader-Willi syndrome have mild to moderate intellectual disability. Thank you for sharing our content. Journal of the American Academy of Child & Adolescent Psychiatry, 32(4), 870873. Healthdirect Australia is not responsible for the content and advertising on the external website you are now entering. According to the Prader-Willi Syndrome Association in the United States, between 1 in 8,000 and 1 in 25,000 people live with the condition. Prader-Willi syndrome (PWS) is a genetic disorder that causes insatiable appetite and often leads to morbid obesity. Almost all individuals with Prader-Willi syndrome have an abnormality within a specific area of chromosome 15.4 Early diagnosis is best because it enables affected individuals to begin early intervention/special needs programs and treatment specifically for Prader-Willi symptoms. sharing sensitive information, make sure youre on a federal Newborns with the defect feel limp, feed poorly, and gain weight slowly. Read about Garvan's research and latest findings. 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. Results: Neither your address nor the recipient's address will be used for any other purpose. Terms of Service apply. 4 Early diagnosis is best because it enables They have severe low Clinical report-health supervision for children with Prader-Willi syndrome. A child with PWS may always want more food, eat big portions, or try to hide or store food to eat later. PraderWilli It affects a part of their brain called the hypothalamus -- this is what tells you you're full when you eat enough food. Boys have undescended testes Undescended testes Undescended testes (cryptorchidism) are testes that remain in the abdomen or the groin instead of descending into the scrotum. Informed consent forms will not be shared. Low muscle tone also means that it takes children with Prader-Willi syndrome longer to reach developmental milestones like sitting, crawling and walking. strong preoccupation with food, which makes it hard for children to concentrate on other things, unusual behaviour related to food for example, hoarding food, high sensitivity to stress, which makes it hard for children to cope with things like changes to routine, difficulty telling the difference between real things and made-up things, undetected infections or injuries because of their high pain tolerance, a higher risk of choking because of their inability to vomit, tasks that involve visual-spatial skills, like solving jigsaw puzzles, decoding letter patterns and word recognition. The https:// ensures that you are connecting to the When damage occurs to the brain due to stroke, tumour, traumatic injury or other reasons, the resulting symptoms are dependent on where the brain was damaged and the extent of the damage. For general feedback, use the public comments section below (please adhere to guidelines). 2010 Aug;41(4):448-63. doi: 10.1007/s10578-010-0180-7. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Prader-Willi syndrome (PWS) is a genetic condition. The complex needs of children with Prader-Willi syndrome also suggest that social care services must be tailored specifically to the needs of people with the syndrome to be effective. WebThe Height SD gain was higher in children with GHD compared to MPHD, TS, PRADER WILLI SYDROME and post tumour radiation (p:< 0.340; p: 0.021 and p: 0.070 and p:0.753, respectively). WebWe offer a wide range of information and support to help families and professionals manage the complexities of Prader-Willi syndrome What is PWS? Findings also showed parents perceived increased weight and age of their child to have a significant negative impact on their child's psychosocial health and social functioning. By clicking Subscribe, I agree to the WebMD, Smart Grocery Shopping When You Have Diabetes, Surprising Things You Didn't Know About Dogs and Cats, Bird Flu Deaths Prompt U.S. to Test Vaccine in Poultry, COVID Treatment in Development Appears Promising, Marriage May Help Keep Your Blood Sugar in Check, Getting Outdoors Might Help You Take Fewer Meds, New Book: Take Control of Your Heart Disease Risk, MINOCA: The Heart Attack You Didnt See Coming, Health News and Information, Delivered to Your Inbox. Also the occurrence of side-effects will be assessed. Behavioral problems are common, including temper outbursts, ", National Organization for Rare Disorders: "Prader Willi Syndrome.". Developing an understanding of skin picking in people with Prader-Willi syndrome: A structured literature review and re-analysis of existing data. Prader-Willi Syndrome Prenatal diagnosis also is available for at-risk pregnancies-that is, pregnancies among women with a family history of Prader-Willi syndrome abnormalities. If you take care of yourself, youll be better able to care for your child. Please enter a suburb or postcode of your location and select from the list. Some children have a read more ). Obesity can be severe enough to justify gastric bypass surgery Types Bariatric (weight-loss) surgery alters the stomach, intestine, or both to produce weight loss. Accessibility Where Can I Find Clinical Care Recommendations and Practice Guidelines? In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, bean LJH, Stephens K, Amemiya a, editors. Some kids even eat food that's still frozen or in the garbage. For general information, Learn About Clinical Studies. Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally doi: 10.1038/gim.0b013e31822bead0. Prader-Willi Syndrome (PWS) PWS is the most common of the genetic disorders that cause life-threatening obesity in children. This study included the patients of a PWS registry in China. Seattle, WA: University of Washington. Cassidy, S. B., & Schwartz, S. (2009). But if you plan to have a baby, you and your partner can be screened for PWS risk. You have reached the maximum number of saved studies (100). https://www.pwcf.org/wp-content/uploads/2015/10/Genetic-of-PWS-Explanation-for-rest-of-us-20041.pdf, https://pubmed.ncbi.nlm.nih.gov/29271568/, Spotlight: Food for Health: Nutrition Research across the Lifespan, Experimental therapy for Prader-Willi syndrome shows promise in mice, National Child & Maternal Health Education Program. Then, between the ages of 1 and 6, appetite increases, often becoming insatiable. If a newborn is unable to suck or feed for a few days and has a "floppy" body and weak muscle tone, a health care provider may conduct genetic testing for Prader-Willi syndrome.1,2,3 Formal diagnostic criteria for recognizing Prader-Willi syndrome depend on the age of the individual-specifically, whether the third birthday has been reached. Hormonal problems are common, and the function of the reproductive organs is abnormally decreased, which limits growth and sexual development. Prader-Willi syndrome - Diagnosis and treatment - Mayo Clinic A definitive diagnosis can almost always be made through a blood test. Healthdirect Australia acknowledges the Traditional Owners of Country throughout Australia and their continuing Retractile testes (hypermobile testes) have descended into the read more (cryptorchidism) and an underdeveloped penis and scrotum. For teens with PWS, hormones like testosterone, estrogen, or human growth hormone (HGH) may help with small stature, poor muscle tone, or extra body fat. Depression causes and treatment. Many symptoms of Prader-Willi syndrome vary according to the child's age. Unable to load your collection due to an error, Unable to load your delegates due to an error. Morandi A, Bonnefond A, Lobbens S, Carotenuto M, Del Giudice EM, Froguel P, Maffeis C. Am J Med Genet A. This study included 134 patients with PWS (115 patients with 15q11-q13 deletion and 19 with maternal uniparental disomy). The study was carried out alongside a research team from Children's Health Ireland (CHI) at Tallaght University Hospital. Prader-Willi Syndrome (PWS) - Eunice Kennedy Shriver National Res Dev Disabil. Prader-Willi syndrome: diagnosis & support - Raising Children The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Early intervention includes therapies, education and other supports that will help your child reach their full potential. 2012;14(1):1026. Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome. WebPraderWilli syndrome is reported to occur approximately once in 25,000 live births, but it is likely to be more common due to a failure to diagnose the condition early. healthdirect Australia is a free service where you can talk to a nurse or doctor who can help you know what to do. National Library of Medicine 2015 Nov;167A(11):2720-6. doi: 10.1002/ajmg.a.37222. Epub 2018 Oct 28. Learn more about the Merck Manuals and our commitment to Global Medical Knowledge. The study highlighted the need for appropriate respite services for affected families. Thank you for taking time to provide your feedback to the editors. Specialized therapy can help your child deal with sleep apnea, thyroid issues, and other symptoms common to this condition. Keywords: Epub 2020 Feb 1. Zhongguo Dang Dai Er Ke Za Zhi. 2018 May;176(5):1161-1165. doi: 10.1002/ajmg.a.38679. Imprinting Prader-Willi syndrome Methods: This study included the patients of a PWS If your child tries to grab and hide food, you might lock cabinets, the pantry, or the refrigerator. Use for phrases Early intervention is the best way to support your childs development. Prader-Willi syndrome - About the Disease - Genetic and WebPrader-Willi Syndrome. Prader-Willi syndrome is a rare genetic disorder that affects development and growth. This study aimed to characterize the perinatal features of 134 Chinese individuals with PWS. For more information, please visit the links below: You are welcome to continue browsing this site with this browser. Banga, A., & Connor, D. F. (2012). HHS Vulnerability Disclosure, Help Study evaluates quality of life and the burden of care with Prader In affected children 3 years of age and older, other symptoms become apparent, such as obesity, intellectual delays, learning disabilities, or behavior problems, especially connected with food and eating.3. The data will become available around begin 2027 (after publication of the results). Ongoing research is being done to find treatments that help improve the prognosis for children and adults who have Prader-Willi syndrome. The overall objective is to measure the effect of growth hormone treatment (GHt) on physical and psychosocial health in adults of 30 years or older with Prader-Willi syndrome (PWS). You can connect with other parents in a similar situation by joining a face-to-face or an online support group. A Phase 2/3 Study of RAD011 (Cannabidiol Oral Solution) for the Treatment of Patients With Prader-Willi Syndrome (SCOUT-015) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. An official website of the United States government. These professionals might include paediatricians, dietitians, physiotherapists, speech pathologists, endocrinologists, occupational therapists, behavioural therapists, exercise physiologists and special education teachers. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow Naltrexone and fluoxetine in PraderWilli syndrome. Perinatal features of Prader-Willi syndrome: a Chinese Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you can help your child a lot. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. speech and language delays and difficulties. Related information on Australian websites, Prader-Willi Syndrome Association of Australia, development and quality assurance of healthdirect content, floppiness, difficulty sucking to feed, and, distinctive facial features (including a narrow bridge of the nose, a high and narrow forehead, a thin upper lip and downturned mouth, almond-shaped eyes, and eyes that look in different directions), undescended testes and small genitalia in boys, light skin and hair compared with other people in the family. Unable to load your collection due to an error, Unable to load your delegates due to an error. Scoliosis can be present at birth or can develop during adolescence. Genes are segments of deoxyribonucleic read more .). Anomalous basal ganglia connectivity and obsessive-compulsive behaviour in patients with Prader Willi syndrome. MeSH 88.6% of mothers reported a decrease of fetal movements. Gunay-Aygun, M., Schwartz, S., Heeger, S., O'Riordan, M. A., & Cassidy, S. B. Use OR to account for alternate terms Before Change in lean body mass (in kg) as measured by Dual Energy X-ray Absorptiometry scan, Change in fat mass (in kg) as measured by Dual Energy X-ray Absorptiometry scan, Change in bone density (in T-score) as measured by Dual Energy X-ray Absorptiometry scan, Change in physical strenght as measured by handgrip dynamometer and sit-to-stand tests, Change in psychosocial functioning as estimated with the Adult Behaviour Checklist, Change in caregiver burden as estimated with the Zarit Burden Interview, Change in weight (in kg) and waist-hip ratio.