Gastrointestinal dysmotility in rett syndrome

Journal of Pediatric Gastroenterology and Nutrition

Volumn 58, Issue 2, 2014, Pages 237-244

  Baikie, Gordon ^a   Ravikumara, Madhur ^b   Downs, Jenny ^c   Naseem, Nusrat ^c   Wong, Kingsley ^c   Percy, Alan ^d   Lane, Jane ^e   Weiss, Batia ^f   Ellaway, Carolyn ^g   Bathgate, Katherine ^c   Leonard, Helen ^c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d University of Alabama at Birmingham   (United States)

^e UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^f Edmond and Lily Safra Children's Hospital   (Israel)

^g UNIVERSITY OF SYDNEY   (Australia)

Author keywords

abdominal bloating; constipation; gastroesophageal reflux disease; gastrointestinal; Rett syndrome

Indexed keywords

COMPLICATION; CONSENSUS; CONSTIPATION; DELPHI STUDY; EVIDENCE BASED MEDICINE; GASTROESOPHAGEAL REFLUX; GASTROINTESTINAL MOTILITY; HUMAN; PRACTICE GUIDELINE; RETT SYNDROME;

CONSENSUS; CONSTIPATION; DELPHI TECHNIQUE; EVIDENCE-BASED MEDICINE; GASTROESOPHAGEAL REFLUX; GASTROINTESTINAL MOTILITY; HUMANS; PRACTICE GUIDELINES AS TOPIC; RETT SYNDROME;

EID: 84894051076     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000000200     Document Type: Article

References (50)

1. Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010;68:944-50.
2. Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8.
3. Jian L, Nagarajan L, de Klerk N, et al. Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol 2007;11:310-7.
4. Ager S, Fyfe S, Christodoulou J, et al. Predictors of scoliosis in Rett syndrome. J Child Neurol 2006;21:809-13.
5. Oddy WH, Webb KG, Baikie G, et al. Feeding experiences and growth status in a Rett syndrome population. J Pediatr Gastroenterol Nutr 2007;45:582-90.
6. Motil KJ, Schultz RJ, Browning K, et al. Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr 1999;29:31-7.
7. Motil KJ, Caeg E, Barrish JO, et al. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr 2012;55:292-8.
8. Schwartzman F, Vitolo MR, Schwartzman JS, et al. Eating practices, nutritional status and constipation in patients with Rett syndrome. Arq Gastroenterol 2008;45:284-9.
9. Julu PO, Engerstrom IW, Hansen S, et al. Cardiorespiratory challenges in Rett's syndrome. Lancet 2008;371:1981-3.
10. Kahrilas PJ, Shaheen NJ, Vaezi MF, et al. American Gastroenterological Association Medical Position Statement on the management of gastro-esophageal reflux disease. Gastroenterology 2008;135:1383.e1-91.e5.
11. Vandenplas Y, Rudolph CD, Di Lorenzo C, et al. Pediatric gastroeso-phageal reflux clinical practice guidelines: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN). J Pediatr Gastroenterol Nutr 2009;49:498-547.
12. Locke GR 3rd, Pemberton JH, Phillips SF. American Gastroenterolo-gical Association Medical Position Statement: guidelines on constipation. Gastroenterology 2000;119:1761-6.
13. Constipation Guideline Committee of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. Evaluation and treatment of constipation in infants and children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2006;43:e1-3.
14. Percy AK, Lee HS, Neul JL, et al. Profiling scoliosis in Rett syndrome. Pediatr Res 2010;67:435-9.
15. NHMRC. A Guide to the Development, Implementation and Evaluation of Clinical Practice Guidelines. Canberra: National Health and Medical Research Council; 1999.
16. Leonard H, Ravikumara M, Baikie G, et al. Assessment and management of nutrition and growth in Rett syndrome. J Pediatr Gastroenterol Nutr 2013;57:451-60.
17. Leonard H, Slack-Smith L, Phillips T, et al. How can the Internet help parents of children with rare neurologic disorders? J Child Neurol 2004;19:902-7.
18. SIGN. SIGN 50: A Guideline Developer's Handbook. Edinburgh, UK: Scottish Intercollegiate Guidelines Network; 2011.
19. Gossler A, Schalamon J, Huber-Zeyringer A, et al. Gastroesophageal reflux and behavior in neurologically impaired children. J Pediatr Surg 2007;42:1486-90.
20. Budden SS. Understanding, recognizing, and treating Rett syndrome. Medscape Womens Health 1997;2:3.
21. Acampa M, Guideri F. Cardiac disease and Rett syndrome. Arch Dis Child 2006;91:440-3.
22. Powers CJ, Levitt MA, Tantoco J, et al. The respiratory advantage of laparoscopic Nissen fundoplication. J Pediatr Surg 2003;38:886-91.
23. Smith CD, Othersen HB Jr, Gogan NJ, et al. Nissen fundoplication in children with profound neurologic disability. High risks and unmet goals. Ann Surg 1992;215:654-8.
24. Budden SS. Management of Rett syndrome: a ten year experience. Neuropediatrics 1995;26:75-7.
25. Bosch J, Mraz R, Masbruch J, et al. Constipation in young children with developmental disabilities. Infants Young Children 2002;15:66-77.
26. Morton RE, Pinnington L, Ellis RE. Air swallowing in Rett syndrome. Dev Med Child Neurol 2000;42:271-5.
27. Percy AK. Rett syndrome: from recognition to diagnosis to intervention. Expert Rev Endocrinol Metab 2008;3:327-36.
28. 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 (suppl 1):S240-1.
29. Shah MB, Bittner JGT, Edwards MA. Rett syndrome and gastric perforation. Am Surg 2008;74:315-7.
30. American College of Gastroenterology Chronic Constipation Task Force. An evidence-based approach to the management of chronic con-stipationinNorth America.Am J Gastroenterol 2005;100 (suppl 1):S1-4.
31. Castro VM, Clements CC, Murphy SN, et al. QT interval and anti-depressant use: a cross sectional study of electronic health records. BMJ 2013;346:f288.
32. Böhmer CJM, Klinkenberg-Knol EC, Niezen-De Boer MC. Prevalence, diagnosis and treatment of gastro-oesophageal reflux disease in institutionalised persons with an intellectual disability. J Intellect Dev Disabil 2002;27:92-105.
33. Tracy JM, Wallace R. Presentations of physical illness in people with developmental disability: the example of gastro-oesophageal reflux. Med J Aust 2001;175:109-11.
34. Baikie G, South MJ, Reddihough DS, et al. Agreement of aspiration tests using barium videofluoroscopy, salivagram, and milk scan in children with cerebral palsy. Dev Med Child Neurol 2005;47:86-93.
35. Scharli AF. Gastroesophageal reflux and severe mental retardation. Prog Pediatr Surg 1985;18:84-90.
36. Orel R, Brecelj J, Homan M, et al. Treatment of oesophageal bile reflux in children: the results of a prospective study with omeprazole. J Pediatr Gastroenterol Nutr 2006;42:376-83.
37. Schwarz SM. Feeding disorders in children with developmental disabilities. Infants Young Children 2003;16:317-30.
38. Marchand V. Nutrition in neurologically impaired children. Paediatr Child Health 2009;14:395-401.
39. Cheung KM, Tse HW, Tse PW, et al. Nissen fundoplication and gastrostomy in severely neurologically impaired children with gastro-esophageal reflux. Hong Kong Med J 2006;12:282-8.
40. Matson JL, LoVullo SV. Encopresis, soiling and constipation in children and adults with developmental disability. Res Dev Disabil 2009; 30:799-807.
41. Katz C, Drongowski RA, Coran AG. Long-term management of chronic constipation in children. J Pediatr Surg 1987;22:976-8.
42. Tse PW, Leung SS, Chan T, et al. Dietary fibre intake and constipation in children with severe developmental disabilities. J Paediatr Child Health 2000;36:236-9.
43. Tolia V, Ventimiglia J, Kuhns L. Gastrointestinal tolerance of a pediatric fiber formula in developmentally disabled children. J Am Coll Nutr 1997;16:224-8.
44. Ternent CA, Bastawrous AL, Morin NA, et al. Practice parameters for the evaluation and management of constipation. Dis Colon Rectum 2007;50:2013-22.
45. Samaco RC, Neul JL. Complexities of Rett syndrome and MeCP2. J Neurosci 2011;31:7951-9.
46. Ellaway CJ, Sholler G, Leonard H, et al. Prolonged QT interval in Rett syndrome. Arch Dis Child 1999;80:470-2.
47. McCauley MD, Wang T, Mike E, et al. Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome. Sci Transl Med 2011;3:113ra25.
48. Longstreth GF, Thompson WG, Chey WD, et al. Functional bowel disorders. Gastroenterology 2006;130:1480-91.
49. Pijpers MA, Tabbers MM, Benninga MA, et al. Currently recommended treatments of childhood constipation are not evidence based: a systematic literature review on the effect of laxative treatment and dietary measures. Arch Dis Child 2009;94:117-31.
50. Colvin L, Fyfe S, Leonard S, et al. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 2003; 88:38-43.