Prader-Willi syndrome is a genetic disorder that affects many parts of the body. But if you plan to have a baby, you and your partner can be screened for PWS risk. 2015 Nov;167A(11):2720-6. doi: 10.1002/ajmg.a.37222. A review of psychiatric conceptions of mental and behavioural disorders in Prader-Willi syndrome. National Library of Medicine 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. You and your child will probably work with many health and other professionals as part of your childs early intervention. Bookshelf Use to remove results with certain terms If you have other children, they might have a range of feelings about having a sibling with disability. Prader-Willi syndrome. PraderWilli 69.4% of the infants ever used feeding tube during hospitalization, however, 97.8% of them discontinued tube feeding after discharge. However, we do not guarantee individual replies due to the high volume of messages. Neither your address nor the recipient's address will be used for any other purpose. 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. Prader-Willi syndrome (PWS) is 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. These trusted information partners have more on this topic. It can cause physical issues, like extreme hunger and weak muscles, as well as learning and behavioral problems. HHS Vulnerability Disclosure, Help The upper back normally curves forward somewhat. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, bean LJH, Stephens K, Amemiya a, editors. WebPrader-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. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Retractile testes (hypermobile testes) have descended into the read more (cryptorchidism) and an underdeveloped penis and scrotum. Behavioral problems are common, including temper outbursts, 2018 Dec;95:396-405. doi: 10.1016/j.neubiorev.2018.10.006. Your email address is used only to let the recipient know who sent the email. Changes in the following laboratory measurements: Choosing to participate in a study is an important personal decision. Thank you for sharing our content. All rights reserved. Genetic testing must confirm the Prader-Willi syndrome diagnosis. Unauthorized use of these marks is strictly prohibited. 2020 Sep;22(9):1001-1006. doi: 10.7499/j.issn.1008-8830.2003344. Pre-Application Process for NICHD Network Multisite Clinical Research, NICHD Policies for Data & Safety Monitoring, Clinician-Scientist Investigator (CSI) Curriculum, Office of Administrative Management (OAM), Office of Data Science and Sharing (ODSS), Office of Legislation, Public Policy, and Ethics (OLPPE), Office of Science Policy, Reporting, and Program Analysis (OSPRA), Division of Population Health Research (DiPHR), NCMRR Funding Opportunity Announcements (FOAs), Snapshot of Pregnancy & Infant Development Advances, Snapshot of Adult & Family Health Advances, National Advisory Child Health and Human Development (NACHHD) Council, National Advisory Board on Medical Rehabilitation Research (NABMRR), Task Force on Research Specific to Pregnant Women and Lactating Women (PRGLAC). A message has been sent to your recipient's email address with a link Your Preemie's First Year: What to Expect, Battling Nature (Part 1): Genetic Possibilities. PMC (Eds.). Child Psychiatry Hum Dev. To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor. Australian guidelines recommend that doctors refer all children they see with PWS to a specialist PWS clinic (available in most capital cities) for additional care. WebWe offer a wide range of information and support to help families and professionals manage the complexities of Prader-Willi syndrome What is PWS? This study addressed the temporal (frequency, duration) and wider characteristics (e.g. 4 Early diagnosis is best because it enables Free Australian health advice you can count on. Please enable it to take advantage of the complete set of features! Please remove one or more studies before adding more. Journal of the American Academy of Child & Adolescent Psychiatry, 32(4), 870873. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Other behavioural signs might include: Some children with Prader-Willi syndrome might also have sleep problems and compulsive behaviour, including picking at their skin and collecting objects. Data collection throughout routine clinical care with subcutaneous injections Genotropin, 0.6-0.8 mg/day. Children rapidly gain weight. All rights reserved. Please select the most appropriate category to facilitate processing of your request. A head or brain injury can also cause the syndrome. Interventions that are behavioural, support emotion regulation and/ or are used in the typically developing population are therefore likely to be beneficial for future research. It affects all Terms of Service apply. Study record managers: refer to the Data Element Definitions if submitting registration or results information. An official website of the United States government. 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. clinical governance framework. It stems from a problem with one of your chromosomes (a strand of DNA that carries your genes). The study was financially supported by the National Children's Hospital Foundation and was a collaboration between researchers at the Department of Nutrition & Dietetics and the Department of Paediatric Growth, Diabetes and Endocrinology in CHI Tallaght, as well as the Department of Paediatrics at the School of Medicine, Trinity College Dublin. Minor Clinical Criteria of Prader-Willi Syndrome 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 Enter search terms to find related medical topics, multimedia and more. (2001). What Happens When Your Son Is Circumcised? 2005 - 2023 WebMD LLC. Poor muscle tone or limbs that hang loosely when you hold them, Inability to suck or nurse well, so they gainweight slowly, Have extra body fat and not enough muscle mass, Be slow to learn to talk, sit, stand, or walk, Lighter skin and hair color than the rest of the family, Inability to keep body temperature under control during a, Osteoporosis, or thin, weak bones that break easily. In Pagon, R. A., Bird, T. D., Dolan, C. R., Stephens, K., Adam, M. P. 1998 Oct 6 [updated 2017 Dec 14]. Only about 1 in 10,000 to 30,000 people in the world have PWS. Adults with PWS are also more at risk of developing serious health problems linked with obesity, such as diabetes and heart disease. FOIA Morgan JR, Storch EA, Woods DW, Bodzin D, Lewin AB, Murphy TK. 2012;14(1):1026. You can also get support from organisations like Prader-Willi Syndrome Australia, Genetic Alliance Australia and Genetic Support Network of Victoria. Prader-Willi Syndrome (PWS) is a rare genetic disorder which affects a number of systems in the body, including hunger and thirst. He is described as Asian, around 5ft 6ins tall, of medium build with The content is provided for information purposes only. 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(1) Background: children with Prader-Willi syndrome (PWS) have high obesity rates due to hyperphagia and decreased metabolic rates. These signs of PWS are less common, but some people have them: Because their sex organs don't develop, women with PWS may never get a period. Neurosci Biobehav Rev. Prader-Willi syndrome. Early intervention should also include helping you learn how to spend time with your child in ways that support their development. Intellectual disability Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily read more is common. and transmitted securely. Sachin Vyas, 38, was last seen in Rufford Colliery Lane at 12.40pm today (Tuesday, August 4). 32.1% of neonates had birth asphyxia, 98.5% had hypotonia and 97.8% had weak cry or even no cry at neonatal period. 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). Prader-Willi syndrome (PWS) is a rare genetic condition that results in a variety of symptoms. Thank you for taking time to provide your feedback to the editors. Your child's doctor should screen for scoliosis, hip dysplasia, or thyroid problems. Some kids even eat food that's still frozen or in the garbage. Hormonal problems are common, and the function of the reproductive organs is abnormally decreased, which limits growth and sexual development. Keywords: How do healthcare providers diagnose PWS? Your email is invalid. 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. FOIA a complex neurodevelopmental disease that is caused by absence of paternal expressed imprinting genes at chromosome 15q1113 region. Researchers from the School of Medicine at Trinity have evaluated the impact of the rare genetic disorder, Prader-Willi syndrome on the quality of life of the affected child, and their family. WebPrader-Willi syndrome (PWS) is a rare genetic condition that affects your childs metabolism and causes changes to their body and behavior. Then, between the ages of 1 and 6, appetite increases, often becoming insatiable. Participants start with 0.2 mg/day and the dose increases with 0.2 mg/day per month to a maximum dose of 0.6-0.8 mg/day. Res Dev Disabil. Newborns with the defect feel limp, feed poorly, and gain weight slowly. WebPrader-Willi syndrome is a complex genetic condition. In many cases of Prader-Willi syndrome, diagnosis is prompted by physical symptoms in the newborn. Developing an understanding of skin picking in people with Prader-Willi syndrome: A structured literature review and re-analysis of existing data. MeSH Before The link you have selected will take you to a third-party website. The site is secure. (See also Next-generation sequencing technologies Next-generation sequencing technologies Genetic diagnostic technologies are scientific methods that are used to understand and evaluate an organism's genes. Nineteen parents/carers who observe skin picking shown by the person they care for completed a semi-structured interview. Behaviour signs One of the key characteristics of Prader-Willi syndrome is excessive appetite. o [ pediatric abdominal pain ] The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Get weekly and/or daily updates delivered to your inbox. Scoliosis can be present at birth or can develop during adolescence. 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. What are the symptoms of Prader-Willi syndrome? or, by Trinity College Dublin. Privacy Policy and In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. The investigators intent to share the full anonymized dataset, study protocol and statistical analysis plan upon request after publication of the results. Use this form if you have come across a typo, inaccuracy or would like to send an edit request for the content on this page. Prader-Willi syndrome is a genetic disorder that affects many parts of the body. Higher mean maternal age was found in this cohort (30.5 vs. 26.7), particularly in the maternal uniparental disomy (UPD) group (36.0 vs. 26.7) comparing with the general population. If you need urgent medical help, call triple zero immediately. Prader-Willi Syndrome is a complex genetic condition which causes neurological, hormonal, behavioural, developmental, and cognitive problems. Select a symptom, answer some questions, get advice. 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. Some children have a read more ). They also use genetic testing. 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. It also gives you funding for things like early intervention therapies and assistive technologies. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. Importantly it will also enable families to continue to provide care within the home environment.". Visit healthdirect's genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information. Various studies have shown that between 1 in 15,000 to 25,000 children are born with Prader-Willi syndrome. [Clinical screening and genetic diagnosis for Prader-Willi syndrome]. Genetic counseling helps people understand their risks. Genetic counseling and testing provide individuals and families with information about the nature, inheritance, and implications of genetic disorders so that they can make informed medical and personal decisions about having children. 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. 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. Children have bone disorders (such as scoliosis Scoliosis Scoliosis is abnormal curvature of the spine. How do healthcare providers diagnose PWS? Bookshelf Genes are segments of deoxyribonucleic read more .). You can unsubscribe at any time and we'll never share your details to third parties. 42.5 and 18.7% of mothers had polyhydramnios and oligohydramnios during pregnancy, respectively. The information you enter will appear in your e-mail message and is not retained by Medical Xpress in any form. Abnormalities of the face include almond-shaped eyes and a mouth with thin upper lips and down-turned corners. Obsessive-Compulsive Disorder (OCD) and Related Disorders in Children and Adolescents. This website is certified by Health On the Net Foundation (HON) and complies with the HONcode standard for trustworthy health information. Specialized therapy can help your child deal with sleep apnea, thyroid issues, and other symptoms common to this condition. Disclaimer. Before -, Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Benjamin, E., & Buot-Smith, T. (1993). Careers. Combined with an insatiable appetite, this can lead to life-threatening obesity. This study included the patients of a PWS registry in China. ", National Organization for Rare Disorders: "Prader Willi Syndrome.". The https:// ensures that you are connecting to the From around 2 years of age, affected children can start to develop other symptoms such as: As adolescents and adults, people with PWS tend to have breathing and sleeping issues, as well as a general lack of energy. Naltrexone and fluoxetine in PraderWilli syndrome. Symptoms may include alterations to the persons speech, mobility, memory and even personality. Where Can I Find Clinical Care Recommendations and Practice Guidelines? Banga, A., & Connor, D. F. (2012). They have poor social and emotional skills and are likely to have a lot of tantrums. This shows if there's a problem with the gene that can cause PWS. Discover how an Accredited Practising Dietitan (APD) has helped Sandra and her son Charlie, who lives with PWS. This study aimed to characterize the perinatal features of 134 Chinese individuals with PWS. Prader-Willi syndrome is caused by a genetic change on chromosome 15. Epub 2018 May 18. healthdirect Australia is a free service where you can talk to a nurse or doctor who can help you know what to do. Federal government websites often end in .gov or .mil. 8600 Rockville Pike A key feature of Epub 2018 Oct 28. sharing sensitive information, make sure youre on a federal This site is protected by reCAPTCHA and the Google If PWS is suspected, genetic testing can be done to reliably confirm the diagnosis. We currently support Microsoft Edge, Chrome, Firefox and Safari. 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. 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 2018 Sep;55(9):594-598. doi: 10.1136/jmedgenet-2017-105118. Physical characteristics Children with Prader-Willi syndrome are typically floppy when theyre newborns. Prader-Willi Syndrome (PWS) PWS is the most common of the genetic disorders that cause life-threatening obesity in children. If you need support, you could start by talking with your GP or a genetic counsellor. Ideally, people with PWS will receive treatment and support from a whole team of health professionals. 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. About 70% of people who have Prader-Willi syndrome are missing part of chromosome 15. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC. Click here to sign in with Affected children The https:// ensures that you are connecting to the Results showed that parents of teenage children with Prader-Willi syndrome reported an increased burden of care made worse by psychological difficulties, and when the child's routine or social activities were disrupted and restricted. Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome. 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.1 This region was identified in 1990 using genetic DNA probes. The diagnosis of Prader-Willi syndrome may be suspected before birth or by the child's physical characteristics after birth. Unable to find your location. The impact on families points to a clear need for social care services (such as respite) to be provided to families at an early stage. Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China. Call 1800 022 222. Prader-Willi Syndrome is a complex genetic condition which causes neurological, hormonal, behavioural, developmental, and cognitive problems. This happens by chance. They need care to keep them away from food and control their weight. Prader-Willi (PRAH-dur VIL-e) syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. 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. Recommendations for the diagnosis and management of Prader-Willi syndrome. Their treatment will depend on the symptoms. government site. The diagnosis can be confirmed by chromosomal testing. This study aimed to characterize the perinatal features of 134 Chinese individuals with PWS. The risk of occurrence in siblings of patients with Prader-Willi syndrome depends on what caused the disorder to occur.2. The NDIS helps you get services and support in your community. The overall objective of this study is to measure the effect of growth hormone (GH) treatment on physical and psychosocial health in adults with Prader-Willi syndrome. Some people are not accurately diagnosed until they are in their 20s or 30s. We do not control or have responsibility for the content of any third-party site. They may have almond-shaped eyes, their head may get narrow at the temples, theirmouth might turn down at the corners, and they might have a thin upper lip. 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 A baby may show signs of PWS early on. 8600 Rockville Pike Bethesda, MD 20894, Web Policies Complication; Feature, perinatal; Prader-Willi syndrome. 2018 May;176(5):1161-1165. doi: 10.1002/ajmg.a.38679. Results were consistent with previous research but advanced the field by finding that most participants picked skin with an imperfection and that parents/carers most commonly use distraction as a management strategy. Genet Med. 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). Further studies are needed for elucidating the mechanism of PWS. Tauber M, Speakers contributors at the second expert meeting of the Comprehensive Care of Patients with PWS. Horm Res. Seattle, WA: University of Washington. WebMD does not provide medical advice, diagnosis or treatment. Support for people with Prader-Willi syndrome and their families is available from the Prader-Willi Syndrome Association of Australia website. These professionals might include paediatricians, dietitians, physiotherapists, speech pathologists, endocrinologists, occupational therapists, behavioural therapists, exercise physiologists and special education teachers. Journal of Child and Adolescent Psychopharmacology, 22(5), 396398. Gold JA, Mahmoud R, Cassidy SB, Kimonis V. Am J Med Genet A. Keywords: official website and that any information you provide is encrypted GeneReviews[internet] Seattle (WA): University of Washington, Seattle; 1993. Genetic testing can confirm the chance that a sibling might be born with Prader-Willi syndrome. Informed consent forms will not be shared. Commenting on the research, Marguerite Hughes from the International Prader-Willi Organisation said, "This study is a welcome addition to the growing volume of research highlighting the impact of Prader-Willi syndrome on quality of life and the need for support, not alone to children with the syndrome, but also their parents and entire families. (See also Overview of Chromosome Disorders .) Health professionals diagnose Prader-Willi syndrome by looking at the physical and other signs listed above. (See also Overview of Bone Disorders in Children.) (2010). The syndrome affects many Perinatal and neonatal presentations were analyzed, and compared between the two PWS genetic subtypes. The data will be available for 15 years. Other sources suggest Epub 2015 Jun 24. It stems from a problem with one of your chromosomes (a strand of DNA that carries your genes). This study addressed the temporal (frequency, duration) and wider characteristics (e.g. Although anti-obesity medications (AOMs) are prescribed to this population, there are no consensus guidelines on acceptability, safety, and efficacy. Christina Meade et al. A child with PWS may always want more food, eat big portions, or try to hide or store food to eat later. Use OR to account for alternate terms 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. 2016 Jun;41(4):261-71. doi: 10.1503/jpn.140338. Antidepressants, like selective serotonin reuptake inhibitors (SSRIs), may help ease behavior problems caused by PWS. Rett syndrome is a genetic disorder that causes intellectual and physical disability.
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