By: Dr. Sharon Elza Raju, BDS, LSSGB, PMEC
What is Angelman Syndrome?
According to Mayo Clinic, Angelman Syndrome is defined as a genetic disorder, which could cause delayed development, intellectual disability, problem concerning the speech and balance and seizures (Mayo Clinic).
It is considered to be caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother (The Angelman Foundation). People with AS experience developmental problems and it becomes noticeable usually by the age of 6-12 months (The Angelman Foundation), and may also experience seizures by the time they turn 2 or 3 years of age.
Apart from this, people usually have an overall happy demeanor, lighting up the room with their smile and laughter.
Dr. Harry Angelman, an English Physician was the first person who identified Angelman Syndrome. He observed this in three children who weren’t related to each other. They showed similar symptoms including intellectual delay, stiff, jerky gait, motor disorders and a happy demeanor. (The Angelman Syndrome Foundation)
What causes this?
It’s usually caused by problems with a gene located on chromosome 15 called the Ubiquitin Protein Ligase E3A (UBE3A) gene.
It is comparatively rare, and most people with Angelman Syndrome do not have a family history. Although, a family history may increases a baby’s risk of acquiring it.
Signs and Symptoms:
- Happy excitable personality
- Developmental delays
- Trouble falling asleep
- Smiles or laughs frequently
- Minimal speech
- Intellectual disability
They may also show the following features;
- Seizures, beginning between 2 to 3 years of age
- Tongue thrusting
- Light colored hair, skin or eyes
- Sleep problems
- Small head along with flatness in the back of the head
Complications associated with Angelman Syndrome: (Mayo clinic)
- Difficulty in feeding: Coordinating between sucking and swallowing may cause feeding problems in babies.
- Hyperactivity: Children with Angelman Syndrome usually move from one activity to the other quickly, and have a shorter attention span.
- Sleep disorders: They usually have abnormal sleep and wake patterns, although it may improve with age.
- Scoliosis: According to Johns Hopkins Medicine, it is a type of spinal deformity. People with Angelman Syndrome develop a side-to- side spinal deformity over time.
How is it diagnosed?
A doctor would diagnose it with the patient’s medical history, physical examination and the signs of developmental delay and other symptoms.
A blood test may also be recommended to check for abnormalities with the UBE3A gene which would help in detecting it accurately.
And if there are concerns associated with seizures, an EEG (Electroencephalogram) can also be done.
Management and treatment:
There are no treatments as such but doctors try their best to manage the symptoms. Early detection is the best solution for a child suffering from Angelman Syndrome.
- An anti-seizure medication (anticonvulsant)
- Physical therapy to help manage the posture and structure
- Back brace or surgery to manage scoliosis
- Communication aides and therapies
Microcycline, a member of the tetracyline family my work by increasing connections between neurons and overcoming those deficits in communication. (Friendship circle, Michigan).
It is currently being used in clinical trials so that it could be used to treat Alzheimer’s disease and Huntington’s disease. It is not very clear as of now, although results from this trial would be very beneficial.
It becomes difficult for people with Angelman Syndrome to live independently and would require some supportive care. They will still continue to have some intellectual limitations and also have speech impairment throughout.
However effective symptom management would help in improving the quality of life for both children and adults.
Angelman Syndrome Foundation (2021). What is Angelman Syndrome? Angelman
Syndrome Foundation. Retrieved from: https://www.angelman.org/what-is-as/
Cleveland Clinic (2018). Angelman Syndrome. Cleveland Clinic. Retrieved from: https://my.clevelandclinic.org/health/diseases/17978-angelman-syndrome
Cleveland Clinic (2021). Electroencephalogram (EEG). Cleveland Clinic. Retrieved from: https://my.clevelandclinic.org/health/diagnostics/9656-electroencephalogram-eeg
FAST (2021). What is Angelman Syndrome? FAST. Retrieved from: https://cureangelman.org/learn-more?msclkid=01f3d16325991953a51bb07e6eacec82
Johns Hopkins Medicine (n.d.). Scoliosis. John Hopkins Medicine. Retrieved from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/scoliosis
Mayo Clinic (2020). Angelman Syndrome. Mayo Clinic. Retrieved from: https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-20355621
Schectman, T. (2012). A Treatment for Angelman Syndrome: An Interview with Dr. Edwin Weeber. Friendshipcircle.org. Retrieved from: https://www.friendshipcircle.org/blog/2012/08/16/a-treatment-for-angelman-syndrome-an-interview-with-dr-edwin-weeber/