Treating Individuals with AS

For Clinicians

This page has resources that could be useful for those in the medical community treating people with Angelman syndrome.  You’ll find published papers, articles, treatment guides, research studies and videos. 

Clinical Care Tool Kit

This comprehensive document combines several resources related to best practices and guidelines for treatment of individuals with Angelman syndrome into one document. Included are: 

  • Overall Standards of Care
  • Seizure Treatment Guidelines
  • Management of Nonconvulsive Status Epilepticus
  • General Anesthesia Best Practices
  • Myoclonus in AS
  • Physical Therapy and Occupational Therapy Best Practices
  • LADDER Learning Network

Standards of Care

Published in 2022, this collaborative project documents common issues that accompany Angelman sydnrome and the most common and established ways of providing care for the issues. 

Seizures

Seizures affect as many as 85-90% of children with AS by 3 years old.  See resources that have been written and created by other clinicians that could help in treatment of seizures in AS. 

Natural History Study

The Angelman Syndrome Natural History Study has resulted in approximately 40 published papers on various subjects related to AS. See the list of papers and their PMID. 

Physical & Occupational Therapy Best Practices

Created by a group of certified physical and occupational therapists that have a history of working with individuals with AS. This document is intended to support physical and occupational therapy efforts by parents and professionals.

Videos & Webinars

The ASF maintains playlists on YouTube with videos and webinars on many topics related to AS. Here are some videos that might be helpful to the medical community.  See the list of all playlists on the Educational Webinars page.

Angelman Syndrome and Stages of Life

Jessica Duis, MD, Mark Nespeca, MD and Ron Thibert, DO, MsPH (2019)
 
AS in Adulthood
Ron Thibert, DO at ASF Family Conference (2017)

Behaviors & Anxiety

 Anxiety and Behavior Concerns
Christopher Keary, MD (2020)

 

Diet

LGIT & Ketogenic Diets for Angelman syndrome
Jessica Duis, MD (2019)

Diets & Supplements
Jessica Duis, MD (2020)

Optimizing Health & Cognition Through Food
Isabel Orellana de Chang (2019)

Medical Care

Medical Care for AS in All Ages
Angelman Clinic heads, Elizabeth Berry-Kravis, MD, Jessica Duis, MD and Mark Nespeca, MD discuss medical care for all ages with Angelman syndrome. (2021)

Sleep

Sleep Issues in AS
Amanda Tourjee, RN (2019)

Sleep in Angelman and Dup15q Syndromes
Ron Thibert, DO and Shafali Jeste, MD (2016)

Seizures

Seizures in AS
Dr. Liz Jalazo interviews and discusses seizures with Ron Thibert, DO (2021)

Seizure Treatments
Ron Thibert, DO (2017)

Contact

Katie Garbarini, MS, CGC
Director of LADDER Learning Network
KGarbarini@ladderlearningnetwork.org