Skip to main content
SpringerLink
Log in
Book cover

Pediatric Neurogastroenterology pp 303–309Cite as

Motility Problems in Developmental Disorders: Cerebral Palsy, Down Syndrome, Williams Syndrome, Autism, Turner’s Syndrome, Noonan’s Syndrome, Rett Syndrome, and Prader-Willi Syndrome

  • Chapter
  • First Online:

Abstract

Motility disorders often complicate the phenotype of primary diseases. High prevalence of GERD and swallowing disorders is reported in patients affected by cerebral palsy and Williams syndrome; Down syndrome has been associated with GERD and Hirschsprung disease; many gastrointestinal complaints are common in patients affected by Autism, Turner’s syndrome, Noonan’s syndrome, Rett syndrome, and Prader-Willi syndrome. Gastrointestinal motility problems represent an important cause of morbidity and sometimes mortality in children affected by developmental disorders. Nevertheless, they are often neglected when priority is given to other clinical aspects of these pathologies. Early diagnosis and optimal care of motility disorders is required to improve the life quality of patients with these conditions.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Kuban KC, Leviton A. Cerebral palsy. N Engl J Med. 1994;330:188–95.

    Article  CAS  PubMed  Google Scholar 

  2. Staiano A, Cucchiara S, Del Giudice E, Andreotti MR, Minella R. Disorders of oesophageal motility in children with psychomotor retardation and gastro-oesophageal reflux. Eur J Pediatr. 1991;150:638–41.

    Article  CAS  PubMed  Google Scholar 

  3. Del Giudice E, Staiano A, Capano G, et al. Gastrointestinal manifestations in children with cerebral palsy. Brain Dev. 1999;21:307–11.

    Article  PubMed  Google Scholar 

  4. Campanozzi A, Capano G, Miele E, et al. Impact of malnutrition on gastrointestinal disorders and gross motor abilities in children with cerebral palsy. Brain Dev. 2007;29:25–9.

    Article  PubMed  Google Scholar 

  5. Schwarz SM, Corredor J, Fisher-Medina J, Cohen J, Rabinowitz S. Diagnosis and treatment of feeding disorders in children with developmental disabilities. Pediatrics. 2001;108:671–6.

    Article  CAS  PubMed  Google Scholar 

  6. Samson-Fang L, Butler C, O'Donnell M, AACPDM. Effects of gastrostomy feeding in children with cerebral palsy: an AACPDM evidence report. Dev Med Child Neurol. 2003;45:415–26.

    Article  PubMed  Google Scholar 

  7. Sullivan PB, Juszczak E, Bachlet AM, et al. Gastrostomy tube feeding in children with cerebral palsy: a prospective, longitudinal study. Dev Med Child Neurol. 2005;47:77–85.

    Article  PubMed  Google Scholar 

  8. Wesley JR, Coran AG, Sarahan TM, Klein MD, White SJ. The need for evaluation of gastroesophageal reflux in brain-damaged children referred for feeding gastrostomy. J Pediatr Surg. 1981;16:866–71.

    Article  CAS  PubMed  Google Scholar 

  9. Vandenplas Y, Rudolph CD, Di Lorenzo C et al. North American Society for Pediatric Gastroenterology Hepatology and Nutrition, European Society for Pediatric Gastroenterology Hepatology and Nutrition. Pediatric gastroesophageal 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.

    Google Scholar 

  10. Miele E, Staiano A, Tozzi A, Auricchio R, Paparo F, Troncone R. Clinical response to amino acid-based formula in neurologically impaired children with refractory esophagitis. J Pediatr Gastroenterol Nutr. 2002;35:314–9.

    Article  CAS  PubMed  Google Scholar 

  11. Richards CA, Andrews PL, Spitz L, Milla PJ. Nissen fundoplication may induce gastric myoelectrical disturbance in children. J Pediatr Surg. 1998;33:1801–5.

    Article  CAS  PubMed  Google Scholar 

  12. Richards CA, Carr D, Spitz L, Milla PJ, Andrews PL. Nissen-type fundoplication and its effects on the emetic reflex and gastric motility in the ferret. Neurogastroenterol Motil. 2000;12:65–74.

    Article  CAS  PubMed  Google Scholar 

  13. Esposito C, Van Der Zee DC, Settimi A, Doldo P, Staiano A, Bax NM. Risks and benefits of surgical management of gastro-esophageal reflux in neurologically impaired children. Surg Endosc. 2003;17:708–10.

    Article  CAS  PubMed  Google Scholar 

  14. Staiano A, Del Giudice E. Colonic transit and anorectal manometry in children with severe brain damage. Pediatrics. 1994;94:169–73.

    CAS  PubMed  Google Scholar 

  15. Staiano A, Simeone D, Del Giudice E, Miele E, Tozzi A, Toraldo C. Effect of the dietary fiber glucomannan on chronic constipation in neurologically impaired children. J Pediatr. 2000;136:41–5.

    Article  CAS  PubMed  Google Scholar 

  16. Spahis JK, Wilson GN. Down syndrome: perinatal complications and counseling experiences in 216 patients. Am J Med Genet. 1999;89:96–9.

    Article  CAS  PubMed  Google Scholar 

  17. Cleves MA, Hobbs CA, Cleves PA, Tilford JM, Bird TM, Robbins JM. Congenital defects among liveborn infants with Down syndrome. Birth Defects Res A Clin Mol Teratol. 2007;79:657–63.

    Article  CAS  PubMed  Google Scholar 

  18. Zarate N, Mearin F, Hidalgo A, Malagelada J. Prospective evaluation of esophageal motor dysfunction in Down’s syndrome. Am J Gastroenterol. 2001;96:1718–24.

    Article  CAS  PubMed  Google Scholar 

  19. Buchin PJ, Levy JS, Schullinger JN. Down syndrome and the gastro-intestinal tract. J Clin Gastroenterol. 1986;8:111–4.

    Article  CAS  PubMed  Google Scholar 

  20. Vernon-Roberts A, Sullivan PB. Fundoplication versus post-operative medication for gastro-oesophageal reflux in children with neurological impairment undergoing gastrostomy. Cochrane Database Syst Rev. 2007;(1):CD006151.

    Google Scholar 

  21. van Trotsenburg AS, Heymans HS, Tijssen JG, de Vijlder JJ, Vulsma T. Comorbidity, hospitalization, and medication use and their influence on mental and motor development of young infants with Down syndrome. Pediatrics. 2006;118:1633–9.

    Article  PubMed  Google Scholar 

  22. Okawada M, Okazaki T, Yamataka A, Lane GJ, Miyano T. Down’s syndrome and esophageal achalasia: a rare but important clinical entity. Pediatr Surg Int. 2005;21:997–1000.

    Article  PubMed  Google Scholar 

  23. Wallace RA. Clinical audit of gastrointestinal conditions occurring among adults with Down syndrome attending a specialist clinic. J Intellect Dev Disabil. 2007;32:45–50.

    Article  PubMed  Google Scholar 

  24. Quinn FM, Surana R, Puri P. The influence of trisomy 21 on outcome in children with Hirschsprung’s disease. J Pediatr Surg. 1994;29:781–3.

    Article  CAS  PubMed  Google Scholar 

  25. Chakravarti A, Lyonnet S. Hirschsprung disease. In: Scrivner CR, Beaudet AR, Sly W, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 6231–55.

    Google Scholar 

  26. Moore SW. The contribution of associated congenital anomalies in understanding Hirschsprung’s disease. Pediatr Surg Int. 2006;22:305–15.

    Article  CAS  PubMed  Google Scholar 

  27. Puffenberger E, Kauffman E, Bolk S, et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet. 1994;3:1217–25.

    Article  CAS  PubMed  Google Scholar 

  28. Arnold S, Pelet A, Amiel J, et al. Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome—Hirschsprung Disease Association. Hum Mutat. 2009;30:771–5.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Zaahl MG, du Plessis L, Warnich L, Kotze MJ, Moore SW. Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung’s disease: predominance of a novel variant (561C/T) in patients with co-existing Down’s syndrome. Mol Cell Probes. 2003;17:49–54.

    Article  CAS  PubMed  Google Scholar 

  30. Morabito A, Lall A, Gull S, Mohee A, Bianchi A. The impact of Down’s syndrome on the immediate and long-term outcomes of children with Hirschsprung’s disease. Pediatr Surg Int. 2006;22:179–81.

    Article  PubMed  Google Scholar 

  31. Merla G, Ucla C, Guipponi M, Reymond A. identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet. 2002;110:429–38.

    Article  CAS  PubMed  Google Scholar 

  32. Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002;17:269–71.

    Article  PubMed  Google Scholar 

  33. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet. 1995;57:49–53.

    CAS  PubMed  PubMed Central  Google Scholar 

  34. Greenberg F. Williams syndrome professional symposium. Am J Med Genet Suppl. 1990;6:85–8.

    Google Scholar 

  35. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988;113:318–26.

    Article  CAS  PubMed  Google Scholar 

  36. Morris CA, Pober V, Wang P, et al. Medical guidelines for Williams syndrome. Williams Syndrome Association Website; 1999.

    Google Scholar 

  37. Johnson CP, Myers SM, American Academy of Pediatrics, Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120:1183–215.

    Article  PubMed  Google Scholar 

  38. Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders: autism and developmental disabilities monitoring network, 14 sites, United States, 2008. MMWR Surveill Summ. 2012;61(SS03):1–19. www.cdc.gov/ncbddd/autism/documents/ADDM-2012-Community-Report.pdf.

  39. Buie T, Campbell DB, Fuchs III GJ, et al. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics. 2010;125 Suppl 1:S1–18.

    Article  PubMed  Google Scholar 

  40. RETRACTED: Wakefield AJ, Murch SH, Anthony A, et al. Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children. Lancet. 1998;351:637–41.

    Google Scholar 

  41. Retraction-Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children. Lancet. 2010;375(9713):445.

    Google Scholar 

  42. Horvath K, Perman JA. Autism and gastrointestinal symptoms. Curr Gastroenterol Rep. 2002;4:251–8.

    Article  PubMed  Google Scholar 

  43. Black C, Kaye JA, Jick H. Relation of childhood gastrointestinal disorders to autism: nested case-control study using data from the UK General Practice Research Database. BMJ. 2002;325:419–21.

    Article  PubMed  PubMed Central  Google Scholar 

  44. Valicenti-McDermott M, McVicar K, Rapin I, Wershil BK, Cohen H, Shinnar S. Frequency of gastrointestinal symptoms in children with autistic spectrum disorders and association with family history of autoimmune disease. J Dev Behav Pediatr. 2006;27(2 Suppl):S128–36.

    Article  PubMed  Google Scholar 

  45. McElhanon BO, McCracken C, Karpen S, Sharp WG. Gastrointestinal symptoms in autism spectrum disorder: a meta-analysis. Pediatrics. 2014;133:872–83.

    Article  PubMed  Google Scholar 

  46. Carr EG, Owen-DeSchryver JS. Physical illness, pain, and problem behavior in minimally verbal people with developmental disabilities. J Autism Dev Disord. 2007;37:413–24.

    Article  PubMed  Google Scholar 

  47. Ranke MB, Saenger P. Turner's syndrome. Lancet. 2001;358:309–14.

    Article  CAS  PubMed  Google Scholar 

  48. Chen H, Faigessbaum D, Weiss H. Psychosocial aspects of patients with the Ulrich-Turner syndrome. Am J Med Genet. 1981;8:191–203.

    Article  CAS  PubMed  Google Scholar 

  49. Mathisen B, Reilly S, Skuse D. Oral-motor dysfunction and feeding disorders of infants with Turner syndrome. Dev Med Child Neurol. 1992;34:141–9.

    Article  CAS  PubMed  Google Scholar 

  50. Staiano A, Salerno M, Di Maio S, et al. Delayed gastric emptying: a novel gastrointestinal finding in Turner’s syndrome. Arch Dis Child. 1996;75:440–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  51. Turner AM. Noonan syndrome. J Paediatr Child Health. 2014;50:E14–20.

    Article  PubMed  Google Scholar 

  52. Sharland M, Burch M, Mckenna WM, Paton MA. A clinical study of Noonan syndrome. Arch Dis Child. 1992;67:178–83.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  53. Shah N, Rodriguez M, Louis DS, Lindley K, Milla PJ. Feeding difficulties and foregut dysmotility in Noonan’s syndrome. Arch Dis Child. 1999;81:28–31.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944–50.

    Article  PubMed  PubMed Central  Google Scholar 

  55. 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.

    Article  CAS  PubMed  Google Scholar 

  56. Baikie G, Ravikumara M, Downs J, et al. Gastrointestinal dysmotility in Rett syndrome. J Pediatr Gastroenterol Nutr. 2014;58:237–44.

    Article  PubMed  Google Scholar 

  57. 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.

    Article  PubMed  PubMed Central  Google Scholar 

  58. 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  59. Shah MB, Bittner JGT, Edwards MA. Rett syndrome and gastric perforation. Am Surg. 2008;74:315–7.

    PubMed  Google Scholar 

  60. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet. 2009;17:3–13.

    Article  CAS  PubMed  Google Scholar 

  61. Wharton RH, Wang T, Graeme-Cook F, Briggs S, Cole RE. Acute idiopathic gastric dilation with gastric necrosis in individuals with Prader-Willi syndrome. Am J Med Genet. 1997;73:437–41.

    Article  CAS  PubMed  Google Scholar 

  62. Stevenson DA, Heinemann J, Angulo M, et al. Gastric rupture and necrosis in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr. 2007;45:272–4.

    Article  PubMed  PubMed Central  Google Scholar 

  63. Arenz T, Schwarzer A, Pfluger T, Koletzko S, Schmidt H. Delayed gastric emptying in patients with Prader Willi syndrome. J Pediatr Endocrinol Metab. 2010;23:867–71.

    Article  CAS  PubMed  Google Scholar 

  64. Hoybye C, Barkeling B, Naslund E, Thoren M, Hellstrom PM. Eating behavior and gastric emptying in adults with Prader-Willi syndrome. Ann Nutr Metab. 2007;51:264–9.

    Article  CAS  PubMed  Google Scholar 

  65. Kuhlmann L, Joensson IM, Froekjaer JB, Krogh K, Farholt S. A descriptive study of colorectal function in adults with Prader-Willi syndrome: high prevalence of constipation. BMC Gastroenterol. 2014;14:63.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Translational Medical Science, Section of Pediatrics, University of Naples “Federico II” Italy, via Pansini 5, Naples, 80131, Italy

    Massimo Martinelli M.D. & Annamaria Staiano M.D.

Authors
  1. Massimo Martinelli M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Annamaria Staiano M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Annamaria Staiano M.D. .

Editor information

Editors and Affiliations

  1. Division of Pediatric Gastroenterology Hepatology and Nutrition, CHU Sainte-Justine, Montreal, Québec, Canada

    Christophe Faure

  2. Department of Paediatric Gastroenterology, UCL Institute of Child Health, London, United Kingdom

    Nikhil Thapar

  3. Division of Pediatric Gastroenterology Hepatology, and Nutrition, Nationwide Children’s Hospital, Columbus, Ohio, USA

    Carlo Di Lorenzo

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Martinelli, M., Staiano, A. (2017). Motility Problems in Developmental Disorders: Cerebral Palsy, Down Syndrome, Williams Syndrome, Autism, Turner’s Syndrome, Noonan’s Syndrome, Rett Syndrome, and Prader-Willi Syndrome. In: Faure, C., Thapar, N., Di Lorenzo, C. (eds) Pediatric Neurogastroenterology. Springer, Cham. https://doi.org/10.1007/978-3-319-43268-7_26

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-43268-7_26

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-43266-3

  • Online ISBN: 978-3-319-43268-7

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation