Williams Syndrome Program

Overview

The Massachusetts General Hospital (MGH) Williams Syndrome Program offers comprehensive, across the lifespan multi-disciplinary clinical services, patient resources, and research opportunities. The MGH Williams Syndrome Program is a cross-disciplinary collaboration between the MGH main campus (MGH, Mass General for Children) in downtown Boston and the MGH Lurie Center in Lexington, MA.

Specialist medical providers (including but not limited to the areas of medical genetics, psychiatry, and cardiology) have significant knowledge of and experience working with individuals with Williams syndrome. In addition to delivering pre-eminent clinical care, a dedicated social worker is available to offer support, guidance, and resources to adults and children who have been referred by a MGH Williams Syndrome Provider. Our Program Coordinator informs families about services that take place under the “umbrella” of the Program. The Program Coordinator can also assist with coordinating patients’ care and scheduling across multiple medical providers, as needed. Thanks to generous philanthropy, there is no charge for the services of either the social worker or the Program Coordinator.

As part of our commitment to help each person with Williams syndrome optimize their health and well-being, we also offer participation in cutting edge medical and behavioral research.

Related Programs

• Lurie Center for Autism
• Pediatric Cardiology
• Pediatric Endocrine Program
• Adult Congenital Heart Disease Program
• Medical Genetics

Clinical Services

Over the past few decades, a great deal has been learned about growth and change in persons with Williams syndrome and that it is important to provide proper support and care to optimize physical and emotional health. Each person with Williams syndrome who receives clinical care at the MGH Williams Syndrome Program is seen initially by at least one of two providers representing our "core” specialties: medical genetics and psychiatry. Additional visits with other specialists (such as cardiology, dentistry, endocrinology, educational assessment, and behavioral consultation) are then tailored to the patient’s needs and treatment goals. Depending on the specialist and where the patient resides (within Massachusetts or outside the state of Massachusetts), the provider may offer either an in-person clinic appointment or a virtual telehealth appointment.

Adults with Williams Syndrome

Navigating the path to adulthood can be challenging for many, including for individuals with Williams syndrome. Building on the strong foundation of lifetime care for persons with Williams syndrome that already exists at MGH, we are now further strengthening the scope and quality of services for adults with Williams syndrome. This has been made possible by the generosity of the Bernon family; their substantial gift is helping the MGH Williams Syndrome Program grow and fill gaps in care encountered by many adults with Williams syndrome. Our MGH Williams Syndrome Program Coordinator helps local and out of state families coordinate multidisciplinary appointments and assists with insurance questions and travel advice. Our Williams Syndrome Program Social Worker provides guidance and resources on many common topics faced by young, middle-aged, and elder adults with Williams syndrome, such as: guardianship, long-term residential options, daytime programs, navigating Department of Developmental Services (DDS), financial planning, accessing mental health services, healthy aging, and more.

How to Request an Appointment

Contact our Program Coordinator at 781-860-1720 or Email: MGH_Williams_Syndrome_Program@mgb.org

To learn more about the Program, our providers, and the types of appointments that are available please contact the Williams Syndrome Program Coordinator at 781-860-1720. Our Program Coordinator can also assist if a family or caregiver wants to coordinate appointments with multiple providers on a single day or, for those traveling to Boston from out of town, over two-three days.

If you have questions about which provider is best suited to evaluate your loved one with Williams syndrome, please contact our Program Coordinator, who will consult with the Williams Syndrome Program Co-Directors and then advise you.

If you are making a new or a follow-up appointment with a specific provider, please call the appointment phone number for the specific provider’s office listed in the Meet Members of the Team section.

Meet Some Members of the Team

We have forged long-term relationships with many of our patients because we provide seamless care across the lifespan in numerous specialties. Many providers at MGH have experience working with children and adults with Williams syndrome and below is a “snapshot” of some of them.

MGH Williams Syndrome Program Staff

Princess M. Fenton
Patient Services Coordinator, Genetics
Phone: 617-726-1561
Fax: 617-726-1566

Cheri L. LePage, BS
Program Coordinator,
Williams Syndrome Program
Phone: 781-860-1720
Fax: 781-860-1766

Patient Resources

The informational resources below are a variety of national and regional resources, primarily MA based. We will continue to add resources as we learn of them.

Special Events

The MGH Williams Syndrome Program invites parents and caretakers to attend an afternoon focusing on issues of special relevance to children with Williams syndrome <16 years old. In addition to educational sessions, there will be opportunities for socializing, meeting adults with Williams syndrome, and learning from each other.

Learn more and register

Williams Syndrome Program – “Navigating Adulthood” 
June 3, 2023

More than 100 adults with Williams syndrome (WS), their caregivers, and staff from the MGH WS Program gathered at the Lurie Center for the inaugural program family event, “Navigating Adulthood.” This Program was made possible due to the generous support from: The Bernon Family, The Williams Syndrome Association, The MGH Development Office, The Lurie Center for Autism. See photos and learn more about the program here.

News & Updates

Anne Klibanski Visiting Lecture 10, “Enhancing the detection and treatment of anxiety disorders in autistic youth,” by Dr. Connor Kerns from the University of British Columbia and “Assessment and Treatment of Anxiety in Williams Syndrome,” by Dr. Robyn Thom from MGH Psychiatry - September 13, 2023.

View the webinar recording.

Select New Publications on Williams Syndrome from Williams Syndrome Team Members

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome

Liu D, Billington CJ Jr, Raja N, Wong ZC, Levin MD, Resch W, Alba C, Hupalo DN, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Parrish PCR, Knutsen RH, Osgood S, Freeman JA, Dalgard CL, Merla G, Pober BR, Mervis CB, Roberts AE, Morris CA, Osborne LR, Kozel BA. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. J Am Heart Assoc. 2024 Feb 6;13(3):e031377. 

Buspirone for the treatment of anxiety in Williams syndrome: a retrospective chart review study

Thom RP, Canales C, Tresvalles M, McDougle CJ, Hooker JM, Chen Y, Zurcher NR. Link to abstract: Neuroimaging research in Williams syndrome: Beginning to bridge the gap with clinical care. Neurosci Biobehav Rev. 2023 Aug 19; 153:105364. PMID: 37598875.

Shin E, Ravichandran C, Renzi D, Pober BR, McDougle CJ, Thom RP. Link to abstract: Diversity of Participants in Williams Syndrome Intervention Studies. J Autism Dev Disord. 2023 Aug 16. doi: 10.1007/s10803-023-06088-2. PMID: 37584767.

Renzi D, Stanley T, Waxler J, Lee H, Pober B*, Nordstrom M*. Link to article: Body mass index variation in adults with Williams syndrome: associations with predicted dietary intake and food behaviors. Food Nutr Res. 2023 Jun 23;67. doi: 10.29219/fnr.v67.9321. PMID: 37441515 [*co-senior authors].

Medical & Genetic overviews:

Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Williams syndrome. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. PMID: 34140529

Stanley TL, Leong A, Pober BR. Growth, body composition, and endocrine issues in Williams syndrome. Curr Opin Endocrinol Diabetes Obes. 2021 28(1):64-74. PMID: 33165016

Sindhar S, Lugo M, Levin MD, Danback JR, Brink BD, Yu E, Dietzen DJ, Clark AL, Purgert CA, Waxler JL, Elder RW, Pober BR, Kozel BA. Hypercalcemia in patients with Williams-Beuren syndrome. J Pediatr. 2016. 178:2540260.e4. PMID: 27574996

Behavioral Health overviews:

Thom RP, Pober BR, McDougle CJ. Psychopharmacology of Williams syndrome: safety, tolerability, and effectiveness. Expert Opin Drug Saf. 2021;20(3):293-306.

Thom RP et al. A virtually delivered adaptive cognitive-behavioral therapy group for adults with Williams syndrome and anxiety. Cognitive and Behavioral Practice. 2022; https://doi.org/10.1016/j.cbpra.2022.02.025.

Thom RP, Keary CJ, Waxler JL, Pober BR, McDougle CJ. Buspirone for the treatment of generalized anxiety disorder in Williams syndrome: A case series. Journal of Autism and Developmental Disorders. 2020. 50(2): 676-682. 

Williams Syndrome Research Opportunities

We are as passionate about furthering knowledge of Williams syndrome as we are about delivering superb clinical care. We view research and care, not as distinct entities, but rather as two sides of the same coin; they inform each other and, together, improve the physical and emotional health of children and adults with Williams syndrome.

Williams Syndrome Program Team members have already made numerous contributions to knowledge of Williams syndrome through publications in the medical literature, teaching, presentations at scientific meetings, and family sessions.

We have clinical research coordinators who support Williams syndrome research studies.

Some of our program’s currently active research studies include:

Characterization of Anxiety in Williams Syndrome (Principal Investigator: Robyn Thom, MD)

The goal of this study is to better understand the symptoms and impact of anxiety in individuals with Williams syndrome across the lifespan by conducting clinical interviews and questionnaires. The results of this research will be used to create clinical tools for improved detection and evaluation of anxiety specific to Williams syndrome. This study is supported by the Williams Syndrome Association Early Investigator Award.

Buspirone for the Treatment of Anxiety in Williams Syndrome (Principal Investigator: Robyn Thom, MD)

The goal of this study is to learn about the effectiveness of buspirone (an anti-anxiety medication) for anxiety in children and adults with Williams syndrome. All participants are prescribed buspirone and are followed closely for the 16-week study to adjust the dosage of medication, check for side effects, and evaluate anxiety severity. Patients must be evaluated in-person at the Lurie Center in Lexington, MA for the first visit and follow up visits can be conducted through telehealth. This study is supported by the Williams Syndrome Association Early Investigator Award.

Brain Aging in Williams Syndrome (Principal Investigator: Robyn Thom, MD)

Very little is known about normal brain aging in Williams syndrome. Thus, very little is also known about the relative proclivity and occurence of age-related brain diseases — i.e., stroke or dementia — in adults with Williams syndrome. The goal of this study is to learn about changes that occur in the brain with a focus on brain blood flow in adults with Williams syndrome (18-35 years) compared to adults without Williams syndrome. The study includes an MRI brain scan and a cognitive evaluation. This study is supported by the Mass General Neuroscience Transformative Scholar Award.

Williams Syndrome SHAAPE [Stength, Hormones, Activity and Adiposity, DNA Programming, and Eating] study (Principal Investigator: Barbara Pober, MD)

The goal of this study is to understand factors that contribute to the wide range of body “shapes and sizes” observed in adults with Williams syndrome. Analyses of differences in body composition, intake of major food groups, resting energy expenditure (so-called basal metabolic rate), and genetic variation is ongoing. Observation of distinct food and eating behaviors in some study participants prompted launch of the follow-up SHAAPE study described below. This study is supported by the Williams Syndrome Association.

SHAAPE study: Follow-up Focus on Eating and Behavior (Principal Investigator: Barbara Pober, MD)

Building on the SHAAPE study described above, we are examining eating behaviors in adults with Williams syndrome to see if they associate with body shape and size, eating a healthier or less healthy diet, as well as with place of residence, and degree of independence especially surrounding meals. This study is supported by the Williams Syndrome Association.

Collaborative Registry for Williams Syndrome (CReWS) (Overall Principal Investigator: Wendy Chung, MD; MGH site PI: Barbara Pober, MD)

In an effort to collect large amounts of information over time, families who have a loved one with Williams syndrome are being invited to join CReWS. In addition to collecting online information via surveys, select information will also be abstracted from the medical record of persons with Williams syndrome who receive care at a participating Williams Syndrome Clinic (and MGH is a participating clinic). The ultimate purposes of CReWS are to: learn about the features and symptoms of Williams syndrome, and how they change as people get older; determine the best care and develop therapies; and connect participants to research studies for which they may be eligible. This study is supported by the Williams Syndrome Association.