{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T12:04:08Z","timestamp":1790424248463,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NCRR U54 RR019478"],"award-info":[{"award-number":["NCRR U54 RR019478"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54 HD06122"],"award-info":[{"award-number":["U54 HD06122"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001819","name":"International Rett Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NICHD U54 HD061222"],"award-info":[{"award-number":["NICHD U54 HD061222"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NCRR U54 RR019478"],"award-info":[{"award-number":["NCRR U54 RR019478"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>\n                      We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl\u2010CpG\u2010binding protein 2 (\n                      <jats:italic>MECP2<\/jats:italic>\n                      ) gene status.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We designed a questionnaire that probed symptoms, diagnoses, diagnostic tests, and treatment interventions related to gastrointestinal and nutritional problems in RTT. The International Rett Syndrome Foundation distributed the questionnaire to 1666 family\u2010based members and forwarded their responses for our review. We interrogated the Rare Disease Clinical Research Network database to supplement findings related to medications used to treat gastrointestinal problems in RTT.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Parents of 983 female patients with RTT (59%) responded and identified symptoms and diagnoses associated with gastrointestinal dysmotility (92%), chewing and swallowing difficulties (81%), weight deficits or excess (47%), growth deficits (45%), low bone mineral content or fractures (37%), and biliary tract disorders (3%). Height\u2010for\u2010age, weight\u2010for\u2010age, and body mass index\n                      <jats:italic>z<\/jats:italic>\n                      scores decreased significantly with age; height\u2010 and weight\u2010, but not body mass index\u2010for\u2010age\n                      <jats:italic>z<\/jats:italic>\n                      scores were significantly lower in female subjects with\n                      <jats:italic>MECP2<\/jats:italic>\n                      mutations than in those without. Vomiting, nighttime awakening, gastroesophageal reflux, chewing difficulty, and choking with feeding were significantly less likely to occur with increasing age. Short stature, low bone mineral content, fractures, and gastrostomy placement were significantly more likely to occur with increasing age. Chewing difficulty, choking with feeding, and nighttime awakening were significantly less likely to occur, whereas short stature was significantly more likely to occur, in female subjects with\n                      <jats:italic>MECP2<\/jats:italic>\n                      mutations than in those without. Diagnostic evaluations and therapeutic interventions were used less frequently than the occurrence of symptoms or diagnoses in the RTT cohort.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Gastrointestinal and nutritional problems perceived by parents are prevalent throughout life in girls and women with RTT and may pose a substantial medical burden for their caregivers. Physician awareness of these features of RTT may improve the health and quality of life of individuals affected with this disorder.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1097\/mpg.0b013e31824b6159","type":"journal-article","created":{"date-parts":[[2012,2,11]],"date-time":"2012-02-11T02:38:48Z","timestamp":1328927928000},"page":"292-298","source":"Crossref","is-referenced-by-count":186,"title":["Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome"],"prefix":"10.1002","volume":"55","author":[{"given":"Kathleen J.","family":"Motil","sequence":"first","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine and the Blue Bird Circle Rett Center Houston TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin","family":"Caeg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine and the Blue Bird Circle Rett Center Houston TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy O.","family":"Barrish","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine and the Blue Bird Circle Rett Center Houston TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Geerts","sequence":"additional","affiliation":[{"name":"Civitan\u2010Sparks Clinics University of Alabama at Birmingham Birmingham AL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane B.","family":"Lane","sequence":"additional","affiliation":[{"name":"Civitan International Research Center University of Alabama at Birmingham Birmingham AL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan K.","family":"Percy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Alabama at Birmingham Birmingham AL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran","family":"Annese","sequence":"additional","affiliation":[{"name":"Greenwood Genetics Center Greenwood SC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"McNair","sequence":"additional","affiliation":[{"name":"Greenwood Genetics Center Greenwood SC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A.","family":"Skinner","sequence":"additional","affiliation":[{"name":"Greenwood Genetics Center Greenwood SC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye\u2010Seung","family":"Lee","sequence":"additional","affiliation":[{"name":"Data Technology Coordinating Center University of South Florida Tampa FL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey L.","family":"Neul","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine and the Blue Bird Circle Rett Center Houston TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"Glaze","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine and the Blue Bird Circle Rett Center Houston TX"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"e_1_2_8_4_1","first-page":"633","article-title":"The pattern of growth failure in Rett syndrome","volume":"147","author":"Schultz RJ","year":"1993","journal-title":"Am J Dis Child"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70436-6"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mpg.0000189370.22288.0c"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e318180ebcd"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199907000-00010"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-28032008000400005"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2005.03.010"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2010.01.005"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807308715"},{"key":"e_1_2_8_13_1","unstructured":"Centers for Disease Control and Prevention National Center for Health Statistics.CDC growth charts: United States.http:\/\/www.cdc.gov\/growthcharts. 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