hEALTH WATCH TABLE — WILLIAMS Syndrome
Considerations | Recommendations |
1. Head, eyes, ears, nose, throat | ||
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2. Dental | ||
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3. Cardiovascular | ||
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4. Sleep | ||
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5. Gastrointestinal | ||
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6. Genitourinary/Renal | ||
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7. Sexual Function | ||
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8. Musculoskeletal (MSK) | ||
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9. Neurology | ||
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10. Dermatology | ||
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11. Behavioral/Mental health | ||
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12. Endocrine | ||
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13. Other | ||
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Health Care Guidelines
Published Williams Syndrome health care guidelines reviewed and compared:
- Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics. 2001 May;107(5):1192-204. http://pediatrics.aappublications.org/content/107/5/1192.full. Accessed July 2021.
- Dykens EM, Hodapp RM, Finucane BM. Williams syndrome. In: Genetics and mental retardation syndromes : a new look at behavior and interventions. Baltimore: Paul H. Brookes Pub. Co.; 2000. p. 97-136.
- Kaplan P, Wang PP, Francke U. Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. J Child Neurol. 2001 Mar;16(3):177-90.
- Lashkari A, Smith AK, Graham JM,Jr. Williams-Beuren syndrome: an update and review for the primary physician. Clin Pediatr (Phila). 1999 Apr;38(4):189-208.
- 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.
- Morris CA. Williams Syndrome — GeneReviews. Medical Genetics Information Resource (database online). ; 2006. http://www.ncbi.nlm.nih.gov/books/NBK1249/ Accessed July 2021.
- Pober BR. Medical progress: Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52.
- Pober BR, Morris CA. Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):280-90.
- The Williams syndrome Guideline Development Group. Management of Williams syndrome: a clinical guideline. UK: Williams Syndrome Foundation; Dyscerne; 2012. https://kr.ihc.com/ext/Dcmnt?ncid=521096048&tfrm=default Accessed July 2021.
- Waxler JL, Levine K, Pober BR. Williams syndrome: a multidisciplinary approach to care. Pediatr Ann. 2009 Aug;38(8):456-63.
- Wilson G, Cooley WC. Williams syndrome. In: Preventive health care for children with genetic conditions: providing a primary care medical home. 2nd ed. Cambridge, UK ; New York: Cambridge University Press; 2006. p. 238-41.
Resources
Williams Syndrome websites that may be useful for families and caregivers:
- The Williams Syndrome Association (WSA) (USA)
www.williams-syndrome.org. Accessed July 2021. - Williams Syndrome Foundation (UK) – Clinical guidelines
https://www.orpha.net/data/patho/Pro/en/WilliamsGuidelines_2010.pdf. Accessed July 2021.
Original tool© 2013 Surrey Place Centre.
Developed by Forster-Gibson C, Berg J, & Developmental Disabilities Primary Care Initiative Co-editors.
Expert Clinician Reviewers
Thanks to the following clinicians for their review and helpful suggestions.
- Paige Kaplan MBBCh
Professor Emerita, Perelman School of Medicine at the University of Pennsylvania
Director, Lysosomal Center, Williams Syndrome Clinic & Connective Tissues Clinic, Children’s Hospital of Philadelphia - Esther Bakker-van Gijssel: esther.bakker@siza.nl
Siza Hartenkoning 3
6871 XV Arnhem
The Netherlands
This tool was reviewed and adapted for U.S. use by physicians on the Toolkit’s Advisory Committee; for list, view here.
References
- 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.
- 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.
- Morris CA. Williams syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes. 3rd ed. NewYork, NY: John Wiley & Sons, Inc; 2010. p. 909-24.
- 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.
- 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.
- Santin BJ, Prasad V, Caniano DA. Colonic diverticulitis in adolescents: An index case and associated syndromes. Pediatr Surg Int. 2009;25(10):901-5.
- Ignacio Jr. RC, Klapheke WP, Stephen T, Bond S. Diverticulitis in a child with Williams syndrome: A case report andreview of the literature. J Pediatr Surg. 2012;47(9):E33-5.
- 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.
- Management of Williams syndrome: A clinical guideline [homepage on the Internet]. UK: Williams SyndromeFoundation; Dyscerne. 2012.
- Gagliardi C, Martelli S, Burt MD, Borgatti R. Evolution of neurologic features in Williams syndrome. Pediatr Neurol.2007 May;36(5):301-6.
- Wollack JB, Kaifer M, Lamonte MP, Rothman M. Stroke in Williams syndrome. Stroke. 1996;27(1):143-6.
- Waxler JL, Levine K, Pober BR. Williams syndrome: A multidisciplinary approach to care. Pediatr Ann. 2009Aug;38(8):456-63.
- 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.
- 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.
- 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.
- 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.
- 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.
- Pober BR. Medical progress: Williams-Beuren syndrome. New Engl J Med. 2010;362(3):239-52.