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      The modified Atkins diet in children with Prader-Willi syndrome

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          Abstract

          Background

          Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity. Various dietary strategies have been used for weight management for people with PWS.

          Methods

          This was a clinical feasibility study to test the use of the Modified Atkins Diet (low carbohydrate and high fat) for children with PWS ages 6–12 years who were overweight/obese. Participants went on the Modified Atkins Diet for 4 months and then returned to have anthropometry repeated including repeat labs and behavior questionnaires.

          Results

          Seven children (ages 6–12) were enrolled in the study. Four participants completed the 4-month diet trial; two were unable to comply with the diet and stopped prematurely. One patient lost 2.9 kg; the others maintained their weight. Adverse effects were increases in LDL (expected based on larger studies) and hypercalciuria (with no renal stones) for one patient. Positive effects on hyperphagia and behavior were noted subjectively by families.

          Conclusion

          The Modified Atkins Diet can be a feasible low carbohydrate option for children with Prader-Willi Syndrome for weight management. Long-term use of the diet in patients with Prader-Willi Syndrome needs to be studied further.

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          Most cited references12

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          Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology.

          Prader-Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of expression of paternally inherited genes known to be imprinted and located in the chromosome 15q11-q13 region. PWS is considered the most common syndromal cause of life-threatening obesity and is estimated at 1 in 10,000 to 20,000 individuals. A de novo paternally derived chromosome 15q11-q13 deletion is the cause of PWS in about 70% of cases, and maternal disomy 15 accounts for about 25% of cases. The remaining cases of PWS result either from genomic imprinting defects (microdeletions or epimutations) of the imprinting centre in the 15q11-q13 region or from chromosome 15 translocations. Here, we describe the clinical presentation of PWS, review the current understanding of causative cytogenetic and molecular genetic mechanisms, and discuss future directions for research.
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            The impact of the modified Atkins diet on lipid profiles in adults with epilepsy.

            The modified Atkins diet (MAD) is a high fat, low carbohydrate ketogenic diet used to treat intractable seizures in children and adults. The long-term impact on fasting lipid profiles (FLPs) remains unknown. This study was designed to detect significant lipid changes in adults on MAD.
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              Early Diagnosis in Prader–Willi Syndrome Reduces Obesity and Associated Co-Morbidities

              Prader–Willi syndrome (PWS) is an imprinting genetic disorder characterized by lack of expression of genes on the paternal chromosome 15q11–q13 region. Growth hormone (GH) replacement positively influences stature and body composition in PWS. Our hypothesis was that early diagnosis delays onset of obesity in PWS. We studied 352 subjects with PWS, recruited from the NIH Rare Disease Clinical Research Network, to determine if age at diagnosis, ethnicity, gender, and PWS molecular class influenced the age they first become heavy, as determined by their primary care providers, and the age they first developed an increased appetite and began seeking food. The median ages that children with PWS became heavy were 10 years, 6 years and 4 years for age at diagnosis < 1 year, between 1 and 3 years, and greater than 3 years of age, respectively. The age of diagnosis and ethnicity were significant factors influencing when PWS children first became heavy (p < 0.01), however gender and the PWS molecular class had no influence. Early diagnosis delayed the onset of becoming heavy in individuals with PWS, permitting early GH and other treatment, thus reducing the risk of obesity-associated co-morbidities. Non-white individuals had an earlier onset of becoming heavy.
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                Author and article information

                Contributors
                ascheima@jhmi.edu
                Journal
                Orphanet J Rare Dis
                Orphanet J Rare Dis
                Orphanet Journal of Rare Diseases
                BioMed Central (London )
                1750-1172
                3 June 2020
                3 June 2020
                2020
                : 15
                : 135
                Affiliations
                [1 ]GRID grid.21107.35, ISNI 0000 0001 2171 9311, Division of Pediatric Gastroenterology and Nutrition, Johns Hopkins School of Medicine, ; Baltimore, MD USA
                [2 ]Pediatric Specialists of Virginia/INOVA Children’s Hospital, Fairfax, Virginia USA
                [3 ]GRID grid.21107.35, ISNI 0000 0001 2171 9311, Department of Pediatric Neurology, Johns Hopkins School of Medicine, ; Baltimore, MD USA
                [4 ]GRID grid.21107.35, ISNI 0000 0001 2171 9311, Institute of Clinical and Translational Research, Johns Hopkins School of Medicine, ; Baltimore, MD USA
                [5 ]Department of Psychology, Center for Pediatric Weight Management & Healthy Living, Mt. Washington Pediatric Hospital, Baltimore, MD USA
                [6 ]GRID grid.411935.b, ISNI 0000 0001 2192 2723, Division of Pediatric Gastroenterology and Nutrition, , Johns Hopkins Hospital, ; 600 N. Wolfe Street Brady 320, Baltimore, MD 21287–2631 USA
                Article
                1412
                10.1186/s13023-020-01412-w
                7268481
                32493369
                75e27c22-66cb-438b-8f14-98ab3e5d63b8
                © The Author(s) 2020

                Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

                History
                : 26 November 2019
                : 18 May 2020
                Categories
                Research
                Custom metadata
                © The Author(s) 2020

                Infectious disease & Microbiology
                prader-willi syndrome,pediatric obesity,obesity,diet,low-carbohydrate diet,ketogenic

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