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Williams Syndrome Treatment & Management

  • Author: Joanna Lazier, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
 
Updated: Jan 14, 2015
 

Medical Care

Williams syndrome is a complex multisystem medical condition that requires a multidisciplinary team. A few large tertiary care centers have Williams syndrome clinics, which help organize and coordinate the care of patients with Williams syndrome. Williams Syndrome Associations are available in the United States and Canada and are a valuable resource for both parents and health care professionals.

Tailor specific management of Williams syndrome to the presenting clinical spectrum. Initial care often centers on failure to thrive, hypercalcemia, or repair of the cardiac lesion. School performance, physical therapy, hyperactivity, and the child's eventual role in society are long-term issues that need to be addressed on an ongoing basis. Anticipatory guidance is essential to help parents prepare for future needs of children with Williams syndrome. Anticipatory care guidelines and growth curves for children with Williams syndrome are available through the American Academy of Pediatrics.[84]

Hypercalcemia, which is noted in approximately 15% of patients with Williams syndrome, is frequently asymptomatic and resolves in the first few years of life but can be lifelong. Signs and symptoms of hypercalcemia, in addition to blood calcium levels, should be periodically monitored throughout life and prior to the administration of any anesthetic or sedative agent and prior to any invasive procedure. Symptomatic hypercalcemia can present with decreased feeding, irritability, and severe colic in infants and may require multidisciplinary management through restriction of calcium, vitamin D intakes (including vitamin formulations), specialized formulas and some patients may require bisphosphonates or steroids to control elevated calcium levels.[85, 86] For more information, see Hypercalcemia.

The goal of managing calcium and vitamin D levels is to monitor and achieve levels in the normal range for age at intakes adequate for bone growth. The need for dietary manipulation and medication to control hypercalcemia should be frequently monitored because long-term unrestricted use of a low calcium, low vitamin D formula has been reported to lead to rickets in a patient with Williams syndrome.[87]

Nephrocalcinosis and sclerosis of the long bones are occasionally observed.

Systemic hypertension should be treated when identified, and surveillance should include annual blood pressure measurements in both arms. For more information see the eMedicine topic in pediatrics for Hypertension or Neonatal Hypertension.

Periodically assess visual problems and hearing loss. Acoustic-visual-behavioral training has been reported to improve symptoms of hyperacusis in an adult.[88] Recurrent otitis media may be treated with placement of tympanostomy tubes.

Patients with short stature should have a bone age assessment and be referred to an endocrinologist for assessment and management of growth hormone deficiency.

Monitor for signs of precocious puberty and arrange referrals with an endocrinologist as necessary.[89] Treatment with gonadotropin-releasing hormone (GnRH) agonists may be considered.

Feeding difficulties in children are common, and referral to a gastroenterologist should be considered.

Thyroid function and glucose tolerance testing should be part of the periodic evaluation.

Early involvement of dentist is suggested.

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Surgical Care

For cardiac findings in children with Williams syndrome, early involvement with a pediatric cardiologist and cardiothoracic surgeon is essential.

Supravalvar aortic stenosis (SVAS) is the most frequently observed operable cardiac lesion in Williams syndrome. SVAS may be progressive in some individuals, and life-long cardiac follow-up is recommended.[90] Surgery is generally required in 20%-30% of patients.[91]

Timing of the operative repair depends on the presence of cardiac symptoms, the gradient across the supraaortic obstruction, and whether ischemic changes are noted on a stress test. Peripheral branch pulmonary stenosis usually spontaneously resolves and generally should not be treated with catheter or surgical intervention.

In general, the degree of supraaortic obstruction in Williams syndrome patients tends to progress over time, whereas peripheral branch pulmonary stenosis improves over time.

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Consultations

Williams syndrome requires the attention of multiple health care professionals, depending on the specific phenotypic manifestations. Many large tertiary care centers have Williams syndrome clinics that help organize and coordinate the care of patients with Williams syndrome.

For cardiac findings in children with Williams syndrome, early involvement of a pediatric cardiologist and cardiothoracic surgeon is essential.

An anesthesiologist should be consulted prior to administration of anesthetics. Sedation should be administered only by physicians experienced in pediatric procedural sedation.

Geneticists, dentists, ophthalmologists, orthopedists, physical and occupational therapists, and psychologists all contribute to the care of the patient with Williams syndrome. Patients may benefit from music therapy.[92]

Parents of children with Williams syndrome should be offered genetic counseling to review their recurrence risks and options for prenatal diagnosis. If neither parent is affected with Williams syndrome, the risk of having another affected child with Williams syndrome is usually less than 1%. However, recurrences of Williams syndrome have been reported, even with unaffected parents, because of apparent germline mosaicism.[80]

Patients with Williams syndrome are considered to be fertile. If one parent is affected with Williams syndrome, the risk for having an affected child is typically 50% because the deletion behaves in an autosomal dominant manner. When of appropriate age, affected children should receive genetic counseling prior to considering having children of their own.

Women with Williams syndrome who are considering pregnancy or who are pregnant should be referred to a maternal-fetal medicine specialist for close monitoring. In particular, a pregnant woman with Williams syndrome should be monitored for hypertension, hypercalcemia, and cardiovascular and other complications.[81]

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Contributor Information and Disclosures
Author

Joanna Lazier, MD Resident Physician, Department of Medical Genetics, University of Calgary Faculty of Medicine, Canada

Joanna Lazier, MD is a member of the following medical societies: Alberta Medical Association, American Society of Human Genetics, Canadian Medical Association, Canadian Association of Interns and Residents, Professional Association of Resident Physicians of Alberta

Disclosure: Nothing to disclose.

Coauthor(s)

Aneal Khan, MD, MSc FRCP(C), FCCMG, Assistant Professor of Medical Genetics and Pediatrics, University of Calgary Faculty of Medicine; Consulting Staff, Departments of Pediatrics and Medical Genetics, Alberta Children's Hospital, Canada

Aneal Khan, MD, MSc is a member of the following medical societies: Canadian Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Ameeta Martin, MD Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

Disclosure: Nothing to disclose.

Chief Editor

Howard S Weber, MD, FSCAI Professor of Pediatrics, Section of Pediatric Cardiology, Pennsylvania State University College of Medicine; Director of Interventional Pediatric Cardiology, Penn State Hershey Children's Hospital

Howard S Weber, MD, FSCAI is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, Society for Cardiovascular Angiography and Interventions

Disclosure: Received income in an amount equal to or greater than $250 from: St. Jude Medical.

Additional Contributors

Jeffrey Allen Towbin, MD, MSc FAAP, FACC, FAHA, Professor, Departments of Pediatrics (Cardiology), Cardiovascular Sciences, and Molecular and Human Genetics, Baylor College of Medicine; Chief of Pediatric Cardiology, Foundation Chair in Pediatric Cardiac Research, Texas Children's Hospital

Jeffrey Allen Towbin, MD, MSc is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Cardiology, American College of Sports Medicine, American Heart Association, American Medical Association, American Society of Human Genetics, New York Academy of Sciences, Society for Pediatric Research, Texas Medical Association, Texas Pediatric Society, Cardiac Electrophysiology Society

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Drugs & Diseases gratefully acknowledge the contributions of previous coauthors Oana Caluseriu, MD, Lennox H Huang, MD, FAAP, and Nathaniel H Robin, MD, to the development and writing of the source article.

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Two-dimensional suprasternal echocardiographic image of supravalvular aortic stenosis (SVAS).
 
 
 
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