References

Canadian Consensus guidelines for the Primary Care of People with Intellectual and Developmental Disabilities

Autism Health Watch Table

Four published autism spectrum disorder health care guidelines were reviewed and compared.

References:

  1. Ashwood P, Krakowiak P, Hertz-Picciotto I, Hansen R, Pessah I, Van de Water J, Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome. Brain Behav Immun. 2011 Jan; 25(1):40-5. doi: 10.1016/j.bbi.2010.08.003. Epub 2010 Aug 10. www.ncbi.nlm.nih.gov/pubmed/20705131. Accessed July 2021.
  2. Rosenhall U, Nordin V, Sandstrom M, Ahlsen G, Gillberg C., Autism and Hearing Loss. Journal of Autism and Developmental Disorders, 1999; 29( 5).  link.springer.com/article/10.1023%2FA%3A1023022709710#page-1. Accessed July 2021.
  3. Kern JK, Trivedi MH, Garver CR, Grannemann BD, Andrews AA, Savla JS, Johnson DG, Mehta JA, Schroeder JL, The pattern of sensory processing abnormalities in autism. Autism. 2006 Sep;10(5):480-94. www.ncbi.nlm.nih.gov/pubmed/16940314. Accessed July 2021.
  4. Ming X, Brimacombe M, Wagner GC, Prevalence of motor impairment in autism spectrum disorders.Brain Dev. 2007 Oct; 29(9):565-70. Epub 2007 Apr 30. www.ncbi.nlm.nih.gov/pubmed/17467940. Accessed July 2021.
  5. Canitano R,  Vivanti G, Tics and Tourette syndrome in autism spectrum disorders. Autism, 2007 Jan; 11(1) 19-28. doi: 10.1177/1362361307070992. aut.sagepub.com/content/11/1/19.short. Accessed July 2021.
  6. Simmons DR, Robertson AE, McKay LS, Toal E, McAleer P, Pollick FE.Vision in autism spectrum disorders. Vision Res. 2009 Nov;49(22):2705-39. doi: 10.1016/j.visres.2009.08.005. Epub 2009 Aug 12. www.ncbi.nlm.nih.gov/pubmed/19682485. Accessed July 2021.
  7. Lane AE,  Young RL, Baker AEZ,  Angley MT,Sensory Processing Subtypes in Autism: Association with Adaptive Behavior.Journal of Autism and Developmental Disorders, 2010 Jan; 40 (1) 112-122. link.springer.com/article/10.1007%2Fs10803-009-0840-2. Accessed July 2021.

Down Syndrome Health Watch Table

  1. Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, et al. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med 2008 Jul;10(7):469-94.
  2. National Institute for Clinical Excellence. Coeliac disease: recognition and assessment of coeliac disease – Quick reference guide. Nice clinical guideline 86. London: National Institute for Clinical Excellence; 2009. Available at: http://www.nice.org.uk/guidance/cg86/evidence/cg86-coeliac-disease-full-guideline3. Accessed July 2021.
  3. Patja K, Pukkala E, Sund R, Iivanainen M, Kaski M. Cancer incidence of persons with Down syndrome in Finland: a population-based study. Int J Cancer. 2006 Apr 1;118(7):1769-72.
  4. Galley R. Medical management of the adult patient with Down syndrome. JAAPA. 2005 Apr;18(4):45,6, 48, 51-2.
  5. Prasher V, Gomez G. Natural history of thyroid function in adults with Down syndrome–10-year follow-up study. J Intellect Disabil Res 2007 Apr;51(Pt 4):312-7.
  6. McGuire D, Chicoine B. Chapter 2: Assessing the physical health/mental health connection. In: McGuire D, Chicoine B, editors. Mental wellness in adults with Down syndrome: A guide to emotional and behavioral strengths and challenges. Bethesda, MD: Woodbine House; 2006. 9-28.
  7. Wallace RA, Dalton AJ. Clinicians’ guide to physical health problems of older adults with Down syndrome. Journal on Developmental Disabilities. 2006;12 (1 [Supplement 1]):1-92.

Fragile X Syndrome Health Watch Table

  1. Amiri K, Hagerman RJ, Hagerman PJ. Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene. Arch Neurol 2008 Jan;65(1):19-25.
  2. Bourgeois JA, Coffey SM, Rivera SM, Hessl D, Gane LW, Tassone F, et al. A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry 2009 Jun;70(6):852-62.

Prader-Willi Syndrome Health Watch Table

  1. Sullivan WF, Berg JM, Bradley E, Cheetham T, Denton R, Heng J, Hennen B, Joyce D, Kelly M, Korossy M, Lunsky Y, McMillan S. Primary care of adults with developmental disabilities: Canadian consensus guidelines. Can Fam Physician 2011;57:541-53.
  2. Balko K. Red yellow green: system for weight management. Toronto: Ontario Prader-Willi Syndrome Association; 2005.
  3. de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, et al. High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab. 2008 May;93(5):1649-54.
  4. Deal CL. Tony M. Hoybye C. Allen DB. Tauber M. Christiansen JS. 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants.  Journal of Clinical Endocrinology & Metabolism. 2013 June; 98(6):E1072-87.

Williams Syndrome Health Watch Table

  1. Collins RT, 2nd, Kaplan P, Somes GW, Rome JJ. Long-term outcomes of patients with cardiovascular abnormalities and Williams syndrome. Am J Cardiol. 2010 Mar 15;105(6):874-8.
  2.  Annaz D, Hill CM, Ashworth A, Holley S, Karmiloff-Smith A. Characterisation of sleep problems in children with Williams syndrome. Res Dev Disabil. 2011 Jan-Feb;32(1):164-9.
  3. Morris CA. Williams syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes. 3rd ed. New York, NY: John Wiley & Sons, Inc; 2010. p. 909-24.
  4. Giannotti A, Tiberio G, Castro M, Virgilii F, Colistro F, Ferretti F, et al. Coeliac disease in Williams syndrome. J Med Genet. 2001 Nov;38(11):767-8.
  5. Partsch CJ, Siebert R, Caliebe A, Gosch A, Wessel A, Pankau R. Sigmoid diverticulitis in patients with Williams-Beuren syndrome: Relatively high prevalence and high complication rate in young adults with the syndrome. Am J Med Genet A. 2005 Aug 15;137(1):52-4.
  6. Santin BJ, Prasad V, Caniano DA. Colonic diverticulitis in adolescents: An index case and associated syndromes. Pediatr Surg Int. 2009;25(10):901-5.
  7.  Ignacio Jr. RC, Klapheke WP, Stephen T, Bond S. Diverticulitis in a child with Williams syndrome: A case report and review of the literature. J Pediatr Surg. 2012;47(9):E33-5.
  8.  Sammour ZM, Gomes CM, Duarte RJ, Trigo-Rocha FE, Srougi M. Voiding dysfunction and the Williams-Beurensyndrome: A clinical and urodynamic investigation. J Urol. 2006 Apr;175(4):1472-6.
  9. Management of Williams syndrome: A clinical guideline [homepage on the Internet]. UK: Williams Syndrome Foundation; Dyscerne. 2012.
  10. Gagliardi C, Martelli S, Burt MD, Borgatti R. Evolution of neurologic features in Williams syndrome. Pediatr Neurol. 2007 May;36(5):301-6.
  11. Wollack JB, Kaifer M, Lamonte MP, Rothman M. Stroke in Williams syndrome. Stroke. 1996;27(1):143-6.
  12. Waxler JL, Levine K, Pober BR. Williams syndrome: A multidisciplinary approach to care. Pediatr Ann. 2009 Aug;38(8):456-63.
  13. Cambiaso P, Orazi C, Digilio MC, Loche S, Capolino R, Tozzi A, et al. Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome. J Pediatr. 2007 Jan;150(1):62-5.
  14. Selicorni A, Fratoni A, Pavesi MA, Bottigelli M, Arnaboldi E, Milani D. Thyroid anomalies in Williams syndrome: Investigation of 95 patients. Am J Med Genet A. 2006 May 15;140(10):1098-101.
  15. Stagi S, Manoni C, Salti R, Cecchi C, Chiarelli F. Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome. Horm Res. 2008;70(5):316-8.
  16. Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A. 2004;131 A(3):255-64.
  17. Pober BR, Wang E, Caprio S, Petersen KF, Brandt C, Stanley T, et al. High prevalence of diabetes and pre-diabetesin adults with Williams syndrome. Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):291-8.
  18. Pober BR. Medical progress: Williams-Beuren syndrome. New Engl J Med. 2010;362(3):239-52.

22q11.2 Deletion Syndrome Health Watch Table

  1. Sullivan WF, Berg JM, Bradley E, Cheetham T, Denton R, Heng J, Hennen B, Joyce D, Kelly M, Korossy M, Lunsky Y, McMillan S. Primary care of adults with developmental disabilities: Canadian consensus guidelines. Can Fam Physician 2011;57:541-53.
  2. Weinzimer SA. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med 2001 Jan-Feb;3(1):19-22.
  3. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, et al. Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A 2005 Nov 1;138(4):307-13.
  4. Bassett AS. McDonald-McGinn DM. Devriendt K. Digilio MC. Goldenberg P. Habel A. Marino B. Oskarsdottir S. Philip N. Sullivan K. Swillen A. Vorstman J. International 22q11.2 Deletion Syndrome Consortium. Practical Guidelines for Managing Patients with 22q11.1 Deletion Syndrome. Journal of Pediatrics. 159(2):332-9.e1, 2011 Aug.
  5. National Center for Biotechnology Information. Gene Reviews/22q11.2 Deletion Syndrome.  Available at: www.ncbi.nlm.nih.gov/books/NBK1523/ Accessed July 2021.

Crisis Prevention and Management Planning

  1. Based on Nonviolent Crisis Intervention ® Training (NVCI) from Crisis Prevention Institute – crisisprevention.com. Accessed July 2021.
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