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Cited by 210Genetics and Neurodevelopmental DisordersChild Nutrition and Feeding IssuesGastrointestinal motility and disorders

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

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Motil, Kathleen J., Caeg, Erwin, Barrish, Judy O., Geerts, Suzanne, Lane, Jane B., Percy, Alan K., Annese, Fran, McNair, Lauren +4 more·2012·Journal of Pediatric Gastroenterology and Nutrition
DOI 10.1097/mpg.0b013e31824b6159PMC PMC3393805
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Abstract

Objective: 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‐CpG‐binding protein 2 ( MECP2 ) gene status. Methods: 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‐based 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. Results: 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‐for‐age, weight‐for‐age, and body mass index z scores decreased significantly with age; height‐ and weight‐, but not body mass index‐for‐age z scores were significantly lower in female subjects with MECP2 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 MECP2 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. Conclusions: 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.

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  • Some RTT patients have bone abnormalities, severe gastrointestinal problems and biliary tract disorders.

    “Interestingly, some RTT patients have bone abnormalities, severe gastrointestinal problems and biliary tract disorders [174–176].”

    From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [176]

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  1. [1]Amir RE Van den Veyver IB Schultz R Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes Ann Neurol 2000 47 670 9 10805343
  2. [2]Neul JL Kaufmann WE Glaze DG Rett syndrome: revised diagnostic criteria and nomenclature Ann Neurol 2010 68 944 50 21154482 PMC3058521
  3. [3]Schultz RJ Glaze DG Motil KJ The pattern of growth failure in Rett syndrome Am J Dis Child 1993 147 633 7 8506830
  4. [4]Motil KJ Schultz RJ Wong WW Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett Syndrome J Pediatr 1998 132 228 33 9506632
  5. [5]Motil KJ Schultz RJ Abrams S Fractional calcium absorption is increased in girls with Rett syndrome J Pediatr Gastroenterol Nutr 2006 42 419 26 16641581
  6. [6]Motil KJ Ellis KE Barrish JO Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome Pediatr Res 2008 64 435 9 18535484 PMC2663405
  7. [7]Motil KJ Schultz RJ Browning K Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett Syndrome J Pediatr Gastroenterol Nutr 1999 29 31 7 10400100
  8. [8]Schwartzman F Vitolo MR Schwartzman JS Eating practices, nutritional status and constipation in patients with Rett syndrome Arq Gastroenterol 2008 45 284 9 19148355
  9. [9]Baldassarre E Capuano G Valenti G A case of massive gastric necrosis in a young girl with Rett Syndrome Brain Dev 2006 28 49 51 16168597
  10. [10]Sezer A Yagci MA Hatipoglu AR The management of gastric perforation in a girl with Rett syndrome: report of a case Brain Dev 2011 33 83 5 20149564
  11. [11]Percy AK Lane JB Childers J Rett syndrome: North American database J Child Neurol 2007 22 1338 41 18174548
  12. [13]Ibrahim SH Voigt RG Katusic SK Incidence of gastrointestinal symptoms in children with autism: a population-based study Pediatrics 2009 124 680 6 19651585 PMC2747040
  13. [15]Reilly S Cass H Growth and nutrition in Rett syndrome Disabil Rehabil 2001 23 118 28 11247007
  14. [16]Issacs JS Murdock M Lane J Eating difficulties in girls with Rett syndrome compared with other developmental disabilities J Am Diet Assoc 2003 103 224 30 12589330
  15. [17]Ribeiro RA Romano AR Birman EG Oral manifestations in Rett syndrome: a study of 17 cases Pediatr Dent 1997 19 349 52 9260231
  16. [18]Morton RE Bonas R Minford J Feeding ability in Rett syndrome Dev Med Child Neurol 1997 30 331 5 9236700
  17. [19]Morton RE Bonas R Minford J Respiration patterns during feeding in Rett syndrome Devel Med Child Neurol 1997 39 607 13 9344053
  18. [20]Oddy WH Webb KG Baikie G Feeding experiences and growth status in a Rett syndrome population J Pediatr Gastroenterol Nutr 2007 45 582 90 18030237
  19. [21]Motil KJ Schultz RJ Brown B Altered energy balance may account for growth failure in Rett syndrome J Child Neurol 1994 9 315 9 7930413
  20. [22]Motil KJ Morrissey M Caeg E Gastrostomy placement improves height and weight gain in girls with Rett syndrome J Pediatr Gastroenterol Nutr 2009 49 237 42 19525868
  21. [23]Glaze DG Percy AK Motil KJ A study of the treatment of Rett syndrome with folate and betaine J Child Neurol 2009 24 551 6 19225139 PMC2760386
  22. [24]Leonard H Thomson MR Glasson EJ A population-based approach to the investigation of osteopenia in Rett syndrome Devel Med Child Neurol 1999 41 323 8 10378758
  23. [25]Jefferson AL Woodhead HJ Fyfe S Bone mineral content and density in Rett syndrome and their contributing factors Pediatr Res 2011 69 293 8 21178825 PMC3906210
  24. [26]Roende G Ravn K Fuglsang K Patients with Rett syndrome sustain low-energy fractures Pediatr Res 2011 69 359 64 21178819
  25. [27]Shapiro JR Bibat G Hiremath G Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations Pediatr Res 2010 68 446 51 20661168 PMC3074246
  26. [28]Gonnelli S Caffarelli C Hayek J Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study Bone 2008 42 737 42 18242156
  27. [29]Roende G Ravn K Fuglsang K DXA measurements in Rett syndrome reveal small bones with low bone mass JBMR 2011 26 2280 6 21590733
  28. [30]Cepollaro C Gonnelli S Bruni D Dual x-ray absorptiometry and bone ultrasonography in patients with Rett syndrome Calcif Tissue Int 2001 69 259 62 11768194
  29. [31]Downs J Bebbington A Woodhead H Early determinants of fractures in Rett syndrome Pediatrics 2008 121 540 6 18310203
  30. [32]Everhart JE Ruhl CE Burden of digestive disease in the United States part I: overall and upper gastrointestinal diseases Gastroenterology 2009 136 376 86 19124023
  31. [33]Sandler RS Everhart JE Donowitz M The burden of selected digestive diseases in the United States Gastroenterology 2002 122 1500 11 11984534
  32. [34]Williams JG Roberts SE Ali MF Gastroenterology services in the UK. The burden of disease, and the organization and delivery of services for gastrointestinal and liver disorders: a review of the evidence Gut 2007 56 1 113 17303614 PMC1860005
  33. [35]Anzai Y Ohya T A case of effective gastrostomy for severe abdominal distention due to breathing dysfunction of Rett’s syndrome: a treatment of autonomic disorder Brain Dev 2001 23 Suppl1 S240 1 11738882
  34. [36]Morton RE Pinnington L Ellis RE Air swallowing in Rett syndrome Dev Med Child Neurol 2000 42 271 5 10795567
  35. [37]Shah MB Bittner JG Edwards MA Rett syndrome and gastric perforation Am Surg 2008 74 315 7 18453295
  36. [38]Byard RW Couper RT Cohle S Gastric distension, cerebral palsy and unexpected death J Clin Forensic Med 2001 8 81 5 16083676
  37. [39]van der Kolk MB Bender MH Goris RJ Acute abdomen in mentally retarded patients: role of aerophagia. Report of nine cases Eur J Surg 1999 165 507 11 10391173
  38. [40]Jancar J Speller CJ Fatal intestinal obstruction in the mentally handicapped J Intellect Disabil Res 1994 38 413 22 7949792

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Authors
Motil, K. J., Caeg, E., Barrish, J. O., Geerts, S., Lane, J. B., Percy, A. K., Annese, F., McNair, L., Skinner, S. A., Lee, H., Neul, J. L., & Glaze, D. G.
Affiliations
  • Baylor College of Medicine (US)
  • University of Alabama at Birmingham (US)
  • Civitan International (US)
  • Greenwood Genetic Center (US)
  • University of South Florida (US)
Corresponding author
  • Motil, Kathleen J.
  • Caeg, Erwin
  • Barrish, Judy O.
  • Neul, Jeffrey L.
  • Glaze, Daniel G.
ORCID
Venue
Journal of Pediatric Gastroenterology and Nutrition
Publisher
Wiley
Published
2012-09
Volume
55
Issue
3
Pages
292-298
ISSN
  • 0277-2116 (ISSN-L)
  • 1536-4801
DOI
10.1097/mpg.0b013e31824b6159
PMC
PMC3393805
OpenAlex
W2002038036
Cited by
210
References
1
Citations by year
2026: 11 · 2025: 17 · 2024: 34 · 2023: 22 · 2022: 14 · 2021: 14 · 2020: 11 · 2019: 9 · 2018: 8 · 2017: 14 · 2016: 17 · 2015: 13 · 2014: 12 · 2013: 11 · 2012: 3
FWCI
7.52
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Journal of Pediatric Gastroenterology and Nutrition (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health (NCRR U54 RR019478, U54 HD06122, NICHD U54 HD061222)
  • International Rett Syndrome Foundation
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
  • Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
Keywords
Rett syndrome, gastrointestinal motility disorders, nutritional disorders, MECP2 mutations, short stature, fracture, gastroesophageal reflux, dysphagia, gastrostomy, growth deficit, caregiver burden, prevalence, age-related changes
MeSH terms
Adolescent, Adult, Age Factors, Bone Diseases, Child, Child, Preschool, Female, Gastrointestinal Diseases, Growth Disorders, Health Surveys, Humans, Infant, Infant Nutrition Disorders, Male, Mutation, Nutrition Disorders, Parents, Surveys and Questionnaires, Child Nutrition Disorders, Rett Syndrome, Prevalence, Methyl-CpG-Binding Protein 2, Young Adult

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