Esophageal motility dysfunction in children with Rett Syndrome, gastroesophageal reflux, and dysphagia

Journal of Applied Research

Volumn 8, Issue 2, 2008, Pages 84-94

  Fortunato, John E ^a   Darbari, Anil ^b   Cuffari, Carmen ^a   Bibat, Genila ^b   Koch, Kenneth ^c   Desbiens, John ^b   Brereton, Hong ^b   Naidu, Sakkubai ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

Dysphagia; Gastroesophageal reflux disease (GERD); Manometry; Rett syndrome

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ARTICLE; BLOOD SAMPLING; CATHETER; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONSTIPATION; DISEASE ASSOCIATION; DYSPHAGIA; ESOPHAGUS FUNCTION DISORDER; ESOPHAGUS MANOMETRY; ESOPHAGUS MOTILITY; ESOPHAGUS MOTILITY DYSFUNCTION; FAILURE TO THRIVE; GASTROESOPHAGEAL REFLUX; GASTROINTESTINAL SYMPTOM; GENE; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE; HUMAN; LOWER ESOPHAGUS SPHINCTER; MECP2 GENE; MULTIPLEX LIGATION PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; RETT SYNDROME; STOMACH FUNDOPLICATION;

EID: 49149091552     PISSN: 1537064X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (52)

1. Kozienetz CA, Skender, ML, MacNaughton N, et al: Epidemiology of Rett syndrome: a population-based registry. Pediatrics 1993;91:445-450.
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;23:185-188.
3. Sirianni N, Naidu S, Pereira J, et al: Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 1998;63:1552-1558.
4. Hoffbuhr K, Devaney JM, LaFleur B, et al: MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001;56:1486-1495.
5. Julu POO, Kerr AM, Apartopoulos F, et al: Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child 2001;85:29-37.
6. Motil K, 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;29:31-37.
7. Naidu S, Bibat G, Kratz L, et al: Clinical variability in Rett syndrome. J Child Neurol 2003;18:662-668.
8. Gold BD: Gastroesophageal reflux disease: could intervention in childhood reduce the risk of later complications. Am J Med 2004;117:23S-29S.
9. Kawahara H, Dent J, Davidson G: Mechanisms responsible for gastroesophageal reflux in children. Gastroenterology 1997;113:399-408.
10. Jadcherla SR: Manometric evaluation of esophageal-protective reflexes in infants and children. Am J Med 2003;115:157S-160S.
11. Massey BT, Simuncak C, Lecapitaine-Dana NJ, et al: Transient lower esophageal sphincter relaxations do not result from passive opening of the cardia by gastric distension. Gastroenterology 2006;130:89-95.
12. Vane DW, Shiffler M, Grosfeld JL, et al: Reduced lower esophageal sphincter (LES) pressure after acute and chronic brain injury. J Pediatr Surg 1982;17:960-964.
13. Tovar JA, Morras I, Arana J, et al: Functional study of gastroesophageal reflux in children with brain disease. Chir Pediatr 1986;27:134-137.
14. Staiano A, Cucchiara S, Del Giudice E, et al: Disorders of oesophageal motility in children with psychomotor retardation and gastroesophageal reflux. Eur J Pediatr 1991;150:638-641.
15. Nissen R: Gastropexy and "fundoplication" in surgical treatment of hiatal hernia. Am J Dig Dis 1961;6:954-961.
16. Filler AM, Randolph JG, Gross RE: Esophageal hiatus hernia in infants and children. J Thorac Cardiovasc Surg 1964;47:551-565.
17. Gibbons TE, Stockwell J, Kreh RP, et al: Population based epidemiological survey of gastroesophageal reflux disease in hospitalized U.S. children, abstracted (#2142). Gastroenterology 2001;120:A419.
18. Gold BD: Outcomes of pediatric gastroesophageal reflux disease: in the first year of life, in childhood, and in adults...oh, and should we really leave Helicobacter pylori alone. J Pediatr Gastroenterol Nutr 2003;37;S33-S39.
19. Fonkalsrud EW, Ashcraft KW, Coran AG, et al: Surgical treatment of gastroesophageal reflux in children: a combined hospital study of 7467 patients. Pediatrics 1998;101:419-422.
20. Vecchia LKD, Grosfeld JL, West KW, et al: Reoperation after Nissen fundoplication in children with gastroesophageal reflux: experience with 130 patients. Ann Surg 1997;226:315-323.
21. Subramaniam R, Dickson AP: Long-term outcome of Boix-Ochoa and Nissen fundoplication in normal and neurologically impaired children. J Pediatr Surg 2000;35:1214-1216.
22. Zaninotto G, Molena D, Ancona E: A prospective multicenter study on laparoscopic treatment of gastroesophageal reflux disease in Italy: type of surgery, conversions, complications, and early results. Study group for the laparoscopic treatment of gastroesophageal reflux disease of the Italian society of endoscopic surgery (SICE). Surg Endosc 2000;14:282-288.
23. Leggett PL, Bissell CD, Churchman-Winn R, et al: A comparison of laparoscopic Nissen fundoplication and Rossetti's modification in 239 patients. Surg Endosc 2000;14:473-477.
24. Martinez DA, Ginn-Pease ME, Caniano DA: Sequelae of antireflux surgery in profoundly disabled children. J Pediatr Surg 1992;27:267-271.
25. Diaz DM, Gibbons TE, Heiss K: Antireflux surgery outcomes in pediatric gastroesophageal reflux disease. Am J Gastro 2005;100:1844-1852.
26. Di Lorenzo C, Flores A, Hyman PE: Intestinal motility in symptomatic children with fundoplication. J Pediatr Gastroenterol Nutr 1991;12:169-173.
27. Kawahara H, Nakajima K, Yagi M, et al: Mechanisms responsible for recurrent gastroesophageal reflux in neurologically impaired children who underwent laparoscopic Nissen fundoplication. Surg Endosc 2002;16:767-771.
28. Water JC: Classification and Definition of Protein-Energy Malnutrition. Nutrition in Preventive Medicine. Geneva: WHO; 1976:530-555.
29. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
30. Kaler SG, Devaney JM, Pettit EL, et al: Novel method for molecular detection of the two common hereditary hemochromatosis mutations. Genet Test 2000;4:125-129.
31. Erlandson A, Samuelsson L, Hagberg B, et al: Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet Test 2003;7:329-332.
32. Sondheimer JM, Morris BA: Gastroesophageal reflux among severely retarded children. J Pediatr 1979;94:710-714.
33. Curci MR, Dibbons AW: Problems associated with a Nissen fundoplication following tracheoesophageal fistula and esophageal atresia repair. Arch Surg 1988;123:618-620.
34. Pearl RH, Robie DK, Ein SH, et al: Complications of gastroesophageal antireflux surgery in neurologically impaired versus neurologically normal children. J Pediatr Surg 1990;25:1169-1173.
35. Richards CA, Milla PJ, Andrews PLR, et al: Retching and vomiting in neurologically impaired children after fundoplication: predictive preoperative factors. J Pediatr Surg 2001;36:1401-1404.
36. Alexander F, Wyllie R, Jirousek K, et al: Delayed gastric emptying affects outcome of Nissen fundoplication in neurologically impaired children. Surgery 1997;122:690-698.
37. Rice H, Seashore JH, Touloukian RJ: Evaluation of Nissen fundoplication in neurologically impaired children. J Pediatr Surg 1991;26:697-701.
38. Esposito C, Van Der Zee DC, Settimi A, et al: Risks and benefits of surgical management of gastroesophageal reflux in neurologically impaired children. Surg Endosc 2003;17:708-710.
39. Spitz L, Kirtane J: Results and complications of surgery for gastro-oesophageal reflux. Arch Dis Child 1985;60:743-747.
40. Inge TH, Carmeci C, Ohara LJ, et al: Outcome of Nissen fundoplication using intraoperative manometry in children. J Pediatr Surg 1998;33:1614-1617.
41. Kawahara H, Imura K, Nakajima K, et al: Motor function of the esophagus and the lower esophageal sphincter in children who undergo laparoscopic Nissen fundoplication. J Pediatr Surg 2000;35:1666-1671.
42. Godoy J, Tovar JA, Vicente Y, et al. Esophageal motor dysfunction persists in children after surgical cure of reflux: an ambulatory manometric study. J Pediatr Surg 2001;36:1405-1411.
43. Mattioli G, Gentilino V, Caponcelli E, et al: Effectiveness of esophageal manometry in predicting the outcome of children with primary GER after floppy Nissen-Rossetti wrap. Surg Endosc 2004;18:1504-1508.
44. Ravi N, Al-Sarraf N, Moran T, et al: Acid normalization and improved esophageal motility after Nissen fundoplication: equivalent outcomes in patients with normal and ineffective esophageal motility. Am J Surg 2005;190:445-450.
45. Rydberg L, Ruth M, Lundell L: Does oesophageal motor function improve with time after successful antireflux surgery? Results of a prospective, randomized clinical study. Gut 1997;41:82-86.
46. Munitiz V, Ortiz A, Martinez LF, et al: Ineffective oesophageal motility does not affect the clinical outcome of open Nissen fundoplication. Br J Surg 2004;91:1010-1014.
47. Frantzides CT, Carlson MA, Madan AK, et al: Selective use of esophageal manometry and 24-hour pH monitoring before laparoscopic fundoplication. JAm Coll Surg 2003;197:358-364.
48. Velanovich V, Mahatme A: Effects of manometrically discovered nonspecific motility disorders of the esophagus on the outcomes of antireflux surgery. J Gastrointest Surg 2004;8:335-341.
49. Heider TR, Behrns KE, Koruda MJ, et al: Fundoplication improves disordered esophageal motility. J Gastrointest Surg 2003;7:159-163.
50. Miki K, Harada T, Kozaiwa K: Antroduodenal motor function and gastro-oesophageal reflux in neurologically impaired children, adolescents and young adults. Eur J Pediatr 1998;157:695-698.
51. Fonkalsrud EW, Foglia RP, Ament ME, et al: Operative treatment for the gastroesophageal reflux syndrome in children. J Pediatr Surg 1989;24:525-529.
52. Bustorff-Silva J, Fonkalsrud EW, Perez CA, et al: Gastric emptying procedures decrease the risk of postoperative recurrent reflux in children with delayed gastric emptying. J Pediatr Surg 1999;34:79-83. s