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GeneReviews[internet] Seattle (WA): University of Washington, Seattle; 1993. Specific changes to the chromosome can include the following: McCandless, S. E.; Committee on Genetics. Read about Garvan's research and latest findings. Ongoing research is being done to find treatments that help improve the prognosis for children and adults who have Prader-Willi syndrome. This site needs JavaScript to work properly. 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. Zhongguo Dang Dai Er Ke Za Zhi. Early intervention can improve outcomes for children with Prader-Willi. The investigators intent to share the full anonymized dataset, study protocol and statistical analysis plan upon request after publication of the results. official website and that any information you provide is encrypted Prader-Willi syndrome is caused by a genetic change on chromosome 15. Prader-Willi syndrome (PWS) is 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. A head or brain injury can also cause the syndrome. Use to remove results with certain terms Higher maternal age may be a risk factor of PWS, especially for UPD. Learn more about the Merck Manuals and our commitment to Global Medical Knowledge. A key feature of Listing a study does not mean it has been evaluated by the U.S. Federal Government. 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. 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. Adults with PWS who have not been treated with GH during the past three years and who will start with GH treatment as part of regular patient care will be asked for informed consent to participate in this open-label prospective cohort study. Bethesda, MD 20894, Web Policies WebPrader-Willi syndrome (PWS) is a rare, complicated condition that affects many parts of your body. The https:// ensures that you are connecting to the Eventually these symptoms resolve. Are You Destined to Get Your Parents' Illnesses? This study aimed to characterize the perinatal features of 134 Chinese individuals with PWS. This can lead to overeating and obesity. 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. It also gives you funding for things like early intervention therapies and assistive technologies. Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. Yang-Li D, Fei-Hong L, Hui-Wen Z, Ming-Sheng M, Xiao-Ping L, Li L, Yi W, Qing Z, Yong-Hui J, Chao-Chun Z; PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society; Zhejiang Expert Group for PWS. 2016 Jun;41(4):261-71. doi: 10.1503/jpn.140338. 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. Some people are not accurately diagnosed until they are in their 20s or 30s. These professionals might include paediatricians, dietitians, physiotherapists, speech pathologists, endocrinologists, occupational therapists, behavioural therapists, exercise physiologists and special education teachers. They have poor social and emotional skills and are likely to have a lot of tantrums. Epub 2018 May 18. government site. Terms of Service apply. 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. Developing an understanding of skin picking in people with Prader-Willi syndrome: A structured literature review and re-analysis of existing data. Obsessive-Compulsive Disorder (OCD) and Related Disorders in Children and Adolescents. 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 Raising Children Network is supported by the Australian Government. Federal government websites often end in .gov or .mil. 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. WebPrader-Willi Syndrome. Would you like email updates of new search results? Select a symptom, answer some questions, get advice. 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. Some children have a read more ). Prader-Willi (PRAH-dur VIL-e) syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. Perinatal and neonatal presentations were analyzed, and compared between the two PWS genetic subtypes. Science X Daily and the Weekly Email Newsletter are free features that allow you to receive your favorite sci-tech news updates in your email inbox, Waking 'sleeping genes' could help Prader-Willi syndrome, Survey-based study suggests abstinence reboot interventions result in increased mental problems, Artificially speeding up a mouse's heart rate found to increase anxiety symptoms, Study unveils mechanism regulating the transmission of a protein associated with the progression of Parkinson's disease, How gut bacteria can impact treatments for cancer, Human feces and urine contain a motherlode of health data: 'Smart toilets' detect daily fluctuations, serious disease. The hands and feet remain small, and children remain short. You can connect with other parents in a similar situation by joining a face-to-face or an online support group. Children rapidly gain weight. It stems from a problem with one of your chromosomes (a strand of DNA that For more information, please visit the links below: You are welcome to continue browsing this site with this browser. Accessibility 2017;12(1):118. doi: 10.1186/s13023-017-0673-6. If you have other children, they might have a range of feelings about having a sibling with disability. Experimental functional analysis of severe skin-picking behavior in Prader-Willi syndrome. This The condition was first described in 1956 and is caused by the absence of certain genes on chromosome 15. Newborns with the defect feel limp, feed poorly, and gain weight slowly. Unauthorized use of these marks is strictly prohibited. Hormone replacement may build stronger bones and prevent osteoporosis later on. Background: Get weekly and/or daily updates delivered to your inbox. PraderWilli Prader-Willi syndrome (PWS) is a rare, complicated condition that affects many parts of your body. Prader-Willi syndrome (PWS) is a genetic disorder that causes insatiable appetite and often leads to morbid obesity. Low muscle tone also means that it takes children with Prader-Willi syndrome longer to reach developmental milestones like sitting, crawling and walking. . Morandi A, Bonnefond A, Lobbens S, Carotenuto M, Del Giudice EM, Froguel P, Maffeis C. Am J Med Genet A. WebWe offer a wide range of information and support to help families and professionals manage the complexities of Prader-Willi syndrome What is PWS? 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. 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. Feeding difficulty existed in 99.3% of the infants, 94.8% of whom had failure to thrive. 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 connection to land, sea and community. The Prader-Willi Syndrome Association has online support groups and tips for parents. Physical characteristics Children with Prader-Willi syndrome are typically floppy when theyre newborns. A message has been sent to your recipient's email address with a link 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. They will have a range of learning difficulties even if their IQ is not affected. Seattle, WA: University of Washington. They get tired easily and can fall asleep during the day. ", More information: These trusted information partners have more on this topic. HHS Vulnerability Disclosure, Help Prader-Willi syndrome is caused by a genetic change on chromosome 15. Complication; Feature, perinatal; Prader-Willi syndrome. Use for phrases doi: 10.1038/gim.0b013e31822bead0. 2018 Sep;55(9):594-598. doi: 10.1136/jmedgenet-2017-105118. 2018 May;176(5):1161-1165. doi: 10.1002/ajmg.a.38679. The link you have selected will take you to a third-party website. It affects a part of their brain called the hypothalamus -- this is what tells you you're full when you eat enough food. FOIA part may be reproduced without the written permission. 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Prader-Willi syndrome is a genetic disorder that affects many parts of the body. Prader-Willi syndrome is a rare condition that causes physical, mental, and behavioral problems. Your feedback is important to us. Prader-Willi syndrome is caused by genetic changes on an "unstable" region of chromosome 15 that affects the regulation of gene expression, or how genes turn on and off. It can lead to excessive eating and life-threatening obesity, as well as obsessive/compulsive behaviours. Learn more here about the development and quality assurance of healthdirect content. However, because of their uncontrollable appetite and other issues, adults with PWS are often not able to live independently. Prader-Willi syndrome (PWS) is a genetic condition. It stems from a problem with one of your chromosomes (a strand of DNA that carries your genes). Gunay-Aygun, M., Schwartz, S., Heeger, S., O'Riordan, M. A., & Cassidy, S. B. Clipboard, Search History, and several other advanced features are temporarily unavailable. Results: A preliminary analysis of the phenomenology of skin-picking in Prader-Willi syndrome. government site. The study highlighted the need for appropriate respite services for affected families. Weight gain often continues into adulthood and is excessive, which can lead to other health problems, such as obesity. 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. 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. This change happens by chance and isnt inherited. When you combine your deep knowledge of your child with the professionals expertise, youre more likely to get the best outcomes for your child. 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. For general inquiries, please use our contact form. 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. Epub 2014 Jun 19. It stems from a problem with one of your chromosomes (a strand of DNA that carries your genes). Journal of the American Academy of Child & Adolescent Psychiatry, 38(6), 761769. All rights reserved. speech and language delays and difficulties. Cassidy, S. B., & Schwartz, S. (2009). Or they may start their periods much later than others. 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. Accessibility WebPrader-Willi syndrome (PWS) is a rare, complicated condition that affects many parts of your body. There's no cure, but if you have a child with PWS, you can help them stay at a healthy weight, have a good quality of life, and prevent health problems down the road. Prader-Willi syndrome. The risk of occurrence in siblings of patients with Prader-Willi syndrome depends on what caused the disorder to occur.2. 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. We pay our respects to the Traditional Owners and to Elders both past and Philadelphia, PA: University of Pennsylvania Press. Medical concerns linked with Prader-Willi syndrome Children with Prader-Willi syndrome can have medical concerns like: Strengths Children with Prader-Willi syndrome often have strengths in: Children with Prader-Willi syndrome also tend to be caring and personable, with a good sense of humour. It can cause physical issues, like extreme hunger and weak muscles, as well as learning and behavioral problems. and transmitted securely. 2010 Aug;41(4):448-63. doi: 10.1007/s10578-010-0180-7. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC. Federal government websites often end in .gov or .mil. WebPrader-Willi syndrome (PWS) is a rare genetic condition that affects your childs metabolism and causes changes to their body and behavior. Genet Med. 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. Akefeldt, A., & Gillberg, C. (1999). Then, between the ages of 1 and 6, appetite increases, often becoming insatiable. 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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. 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. 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. 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. Early intervention can improve outcomes for children with Rett syndrome. Effectiveness of naltrexone for treating pathologic skin picking behavior in an adolescent with PraderWilli syndrome. To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor. Although it has no cure, treatment, especially if received early on, can help with symptoms. Professor Roche explained, "Provision of appropriate respite care for children and young people with Prader-Willi Syndrome along with increased support for their families will not only enhance the healthcare outcomes of affected patients, it will improve their quality of life and that of their families. clinical governance framework. This study aimed to characterize the perinatal features of 134 Chinese individuals with PWS. We also compared the perinatal features of PWS patients with the general population and other previous reported large cohorts from France, UK and USA. But if you plan to have a baby, you and your partner can be screened for PWS risk. healthdirect Australia is a free service where you can talk to a nurse or doctor who can help you know what to do. Privacy Policy and 2005 Jul 25;7(14):1-20. doi: 10.1017/S1462399405009531. 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. A gene is a segment of deoxyribonucleic acid ( DNA) and contains the code for a specific protein that functions in one read more .). Support for people with Prader-Willi syndrome and their families is available from the Prader-Willi Syndrome Association of Australia website. Would you like email updates of new search results? PWS usually happens because of genetic changes on a region of chromosome 15.. Apart from any fair dealing for the purpose of private study or research, no Information provided by (Responsible Party): dr. Laura C. G. de Graaff-Herder, Erasmus Medical Center. Study record managers: refer to the Data Element Definitions if submitting registration or results information. Prader-Willi syndrome. This syndrome is a rare condition, which happens in 1 in 15 000 births. 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. This site needs JavaScript to work properly. The study was carried out alongside a research team from Children's Health Ireland (CHI) at Tallaght University Hospital. Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome. Visit healthdirect's genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information. 8600 Rockville Pike This website is certified by Health On the Net Foundation (HON) and complies with the HONcode standard for trustworthy health information. Other physical signs and symptoms can include: Cognitive signs Most children with Prader-Willi syndrome have mild to moderate intellectual disability. About 30% of people who have this syndrome have problems with the function of Genetics Home Reference: "Prader-Willi Syndrome. Epub 2015 Jun 24. 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. This shows if there's a problem with the gene that can cause PWS. Thank you for taking time to provide your feedback to the editors. In the United States, about 160,000 people have bariatric surgery each year. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. It affects all Although anti-obesity medications (AOMs) are prescribed to this population, there are no consensus guidelines on acceptability, safety, and efficacy. Retractile testes (hypermobile testes) have descended into the read more (cryptorchidism) and an underdeveloped penis and scrotum. Prader-Willi syndrome. Disclaimer. This site is protected by reCAPTCHA and the Google What are the symptoms of Prader-Willi syndrome? Affected children often begin to eat excessively because they are always hungry and develop obesity in later infancy or early childhood. Bookshelf This study addressed the temporal (frequency, duration) and wider characteristics (e.g. Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally HHS Vulnerability Disclosure, Help Support for this browser is being discontinued for this site. healthdirect's information and advice are developed and managed within a rigorous Methods: This study included the patients of a PWS Enter search terms to find related medical topics, multimedia and more. 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. They need care to keep them away from food and control their weight. (See also Genes and Chromosomes.) PMC Disclaimer. Hormonal problems are common, and the function of the reproductive organs is abnormally decreased, which limits growth and sexual development. Unauthorized use of these marks is strictly prohibited. 2018 Dec;95:396-405. doi: 10.1016/j.neubiorev.2018.10.006. Men who have PWS may not have facial hair. 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). View this study on Beta.ClinicalTrials.gov, Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services. Before (See also Overview of Chromosome Disorders .) The primary endpoint is change in lean body mass (LBM (kg)) as assessed by Dual Energy X-ray Absorptiometry (DEXA) scan. Medical problem? Your Preemie's First Year: What to Expect, Battling Nature (Part 1): Genetic Possibilities. Orphanet J Rare Dis. Maternal age and pre-pregnancy weight were significantly higher in the UPD group (both P < 0.05). In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Healthdirect Australia acknowledges the Traditional Owners of Country throughout Australia and their continuing About 70% of people who have Prader-Willi syndrome are missing part of chromosome 15. Genetic testing must confirm the Prader-Willi syndrome diagnosis. We hypothesize that growth hormone treatment will improve the physical and psychosocial health. We currently support Microsoft Edge, Chrome, Firefox and Safari. Expert Rev Mol Med. We do not control or have responsibility for the content of any third-party site. Please enter a suburb or postcode of your location and select from the list. How do healthcare providers diagnose Prader-Willi syndrome (PWS)? Please check and try again, Recipient's email is invalid. Child Psychiatry Hum Dev. Tauber M, Speakers contributors at the second expert meeting of the Comprehensive Care of Patients with PWS. You can also get support from organisations like Prader-Willi Syndrome Australia, Genetic Alliance Australia and Genetic Support Network of Victoria. sharing sensitive information, make sure youre on a federal Their treatment will depend on the symptoms. Prader-Willi Syndrome is a complex genetic condition which causes neurological, hormonal, behavioural, developmental, and cognitive problems. Before age 3, the most important symptom is extremely poor muscle tone, called hypotonia, which makes infants feel floppy. DOI: 10.1111/apa.15738. Neurosci Biobehav Rev. Horm Res. 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).