• Skip to main content
Search
  • Home
  • Services
      • Behavioral Health
      • Bloodless Medicine
      • Brain & Spine
      • Cancer Care
      • Ear, Nose and Throat
      • Emergency Care
      • Geriatric Care
      • Heart & Vascular Care
      • Home Health Care
      • Medical Imaging
      • Minimally Invasive Surgery
      • Orthopedics
      • Pregnancy & Childbirth
      • Primary Care
      • Rehabilitation Services
      • Weight Loss Surgery
      • Wound Healing & Care
      • Women's Health
  • Doctors
      • Find a Primary Care Doctor
      • Find a Doctor
      • Physician Referral
      • Practices:

        Baptist Primary Care
      • Baptist AgeWell
      • Baptist Behavioral Health
      • Baptist Endocrinology
      • Baptist ENT Specialists
      • Baptist Heart Specialists
      • Baptist Infectious Diseases
      • Baptist MD Anderson Cancer Physicians
      • Baptist Neurology
      • Baptist Pulmonary Specialists (Nassau)
      • Baptist Rheumatology
      • Baptist Urology Group (Nassau)
      • Jacksonville Orthopaedic Institute
      • Lyerly Neurosurgery
  • Locations
    • Our Hospitals:

      • Baptist Medical Center Jacksonville
      • Baptist Medical Center South
      • Baptist Medical Center Beaches
      • Baptist Medical Center Nassau
      • Baptist Heart Hospital
      • Wolfson Children's Hospital

      Imaging Centers:

      • Magnetic Resonance Imaging (MRI)
      • Mammography and Bone Density
      • Medical Imaging

      Freestanding Emergency Centers:

      • Baptist Emergency at Clay
      • Baptist Emergency at North
      • Baptist Emergency at Town Center

      Urgent Care Locations:

      • Baptist Health Clinics at Walgreens
      • CareSpot Urgent Care

      Health & Wellness:

      • 4her Center for Women
      • JCA Wellness Connexion
      • Y Healthy Living Centers

      Outpatient Locations:

      • AgeWell Center for Senior Health
      • Baptist Clay Medical Campus
      • Baptist MD Anderson Cancer Center
      • Baptist Neurodiagnostic Center
      • Baptist North Medical Campus
      • Cardiac Testing Centers
      • Hill Breast Center
      • Infusion Center
      • Pharmacy
      • Rehabilitation Centers
      • Robotic Spine Surgery
      • Sleep Centers
      • Stroke and Cerebrovascular Center
      • Surgery Centers
      • Wound Care
  • Patient Info
      • Billing & Insurance Information
      • Insurance Plans Accepted
      • Cost Estimate Request
      • Financial Assistance Program
      • My Baptist Connect (Patient Portal)
      • Medical Records
      • Classes and Events
      • Clinical Trials
      • Tell Us What You Think
  • Health Library
      • Diseases and Conditions
      • Symptoms
      • Tests
      • Surgeries and Procedures
      • Injuries
      • Nutrition
      • Poison
      • Drug Information
      • Drug Images
      • Health News
      • Video Library
  • About Us
      • Administration
      • Awards & Honors
      • Careers
      • Provider Opportunities
      • Baptist MD Anderson Provider Opportunities
      • Spiritual Care
      • Social Responsibility
      • Community Health Needs Assessment (CHNA)
      • Corporate Wellness (PATH)
      • Volunteering
      • Newsroom
  • Juice
      • Health News Overview:

      • Brain, Spine & Nerve
      • Cancer
      • Child Health
      • Community Health
      • Heart & Vascular
      • Mental Health
      • Orthopedics, Bones & Muscles
      • Pregnancy & Childbirth
      • Primary Care
      • Wellness
      • Women's Health
  1. Home
  2. Health Library
  3. Diseases and Conditions
  4. Angelman syndrome

Angelman syndrome

Diseases and Conditions

Angelman syndrome (AS) is a genetic condition that causes problems with the way a child's body and brain develop. The syndrome is present from birth (congenital). However, it often isn't diagnosed until about 6 to 12 months of age. This is when development problems are first noticed in most cases.

This condition involves the gene UBE3A.

Most genes come in pairs. Children receive one from each parent. In most cases, both genes are active. This means information from both genes is used by the cells. With the UBE3A gene, both parents pass it on, but only the gene passed on from the mother is active.

Angelman syndrome most often occurs because UBE3A passed on from the mother doesn't work the way it should. In some cases, AS is caused when two copies of UBE3A gene come from the father, and none come from the mother. This means neither gene is active, because they both come from the father.

In newborns and infants:

  • Loss of muscle tone (floppiness)
  • Trouble feeding
  • Heartburn (acid reflux)
  • Trembling arm and leg movements

In toddlers and older children:

  • Unstable or jerky walking
  • Little or no speech
  • Happy, excitable personality
  • Laughing and smiling often
  • Light hair, skin, and eye color compared to rest of family
  • Small head size compared to body, flattened back of head
  • Severe intellectual disability
  • Seizures
  • Excessive movement of the hands and limbs
  • Sleep problems
  • Tongue thrusting, drooling
  • Unusual chewing and mouthing movements
  • Crossed eyes
  • Walking with arms uplifted and hands waving

Most children with this disorder don't show symptoms until about 6 to 12 months. This is when parents may notice a delay in their child's development, such as not crawling or starting to talk.

Children between 2 and 5 years of age start to show symptoms such as jerky walking, happy personality, laughing often, no speech, and intellectual problems.

Exams and Tests

Genetic tests may diagnose Angelman syndrome. These tests look for:

  • Missing pieces of chromosomes
  • DNA test to see if copies of the gene from both parents are in an inactive or active state
  • Gene mutation in the mother's copy of the gene

Other tests may include:

  • Brain MRI
  • EEG

Treatment

There is no cure for Angelman syndrome. Treatment helps to manage health and development problems caused by the condition.

  • Anticonvulsant medicines help control seizures
  • Behavior therapy helps manage hyperactivity, sleep problems, and development problems
  • Occupational and speech therapy manage speech problems and teach living skills
  • Physical therapy helps with walking and movement problems

Support Groups

Angelman Syndrome Foundation: www.angelman.org

ASSERT: www.angelmanuk.org

Outlook (Prognosis)

People with AS live close to a normal lifespan. Many have friendships and interact socially. Treatment helps improve function. People with AS can't live on their own. However, they may be able to learn certain tasks and live with others in a supervised group home.

Possible Complications

Complications may include:

  • Severe seizures
  • Gastroesophageal reflux (heartburn)
  • Scoliosis (curved spine)
  • Accidental injury due to uncontrolled movements

When to Contact a Medical Professional

Call your health care provider if your child has symptoms of this condition.

Prevention

There is no way to prevent Angelman syndrome. If you have a child with AS or a family history of the condition, you may want to talk with your provider before becoming pregnant.

References

Dagli AI, Mueller J, Williams CA. Angelman syndrome. GeneReviews. Seattle, WA: University of Washington; 2015:5. PMID: 20301323 www.ncbi.nlm.nih.gov/pubmed/20301323. Accessed August 1, 2017.

Nussbaum RL, McInnes RR, Willard HF. The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 6.

BACK TO TOP

Review Date: 8/6/2017

Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

 
 
 

 

 

A.D.A.M. content is best viewed in IE9 or above, Fire Fox and Google Chrome browser.
Content is best viewed in IE9 or above, Fire Fox and Google Chrome browser.

Daily Health and Medical News

Results for angelman, angelman syndrome , gene, problems, syndrome

  • Approach That New Gene Testing Kit With Caution
    December 14, 2018

  • Gene Tweaking Prevented Obesity in Mice
    December 14, 2018

  • Gene Therapy for Sickle Cell Takes Another Step Forward
    December 04, 2018

  • Parkinson's Gene Therapy Wires New Brain Circuits
    November 28, 2018

  • Does Dyslexia Gene Protect Against Concussions?
    October 26, 2018

© Copyright 2019 | All Rights Reserved

If you speak another language, assistance services
free of charge, are available to you.

Baptist Health Facebook Baptist Health Twitter Baptist Health on LinkedIn Baptist Health on Instagram Baptist Health on Youtube
Physician Login | Application Login | Employee Login
Quality Measures | Privacy | Non-Discrimination | Comments | Site Map