Angelman Syndrome

Angelman syndrome is a complex genetic disorder that affects the central nervous system and causes severe physical and learning disabilities.

Behaviour Help is a registered NDIS provider.

child with Angelman syndrome learning to play in a preschool

Definition of Angelman Syndrome

Angelman syndrome is a complex genetic disorder that affects the central nervous system and causes severe physical and learning disabilities. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A on chromosome 15 due to inactivation or mutation of the gene.


Causes of Angelman Syndrome

Angelman syndrome is caused by the absence or loss of function of a gene called UBE3A on chromosome 15. This impacts brain functioning, which results in a range of symptoms. Sometimes the causes of Angelman syndrome is unknown.


Types of Angelman Syndrome

  1. Deletion positive – this is the most common  type of this syndrome affecting about 70% of cases of AS and occurs when the mother’s copy of UBE3A has been deleted and is not present.
  2. Mutation – this type affects about 11% of cases of AS and occurs when there is a mutation or alteration in the chromosome 15 inherited from the mother. This mutation or alteration either prevents the expression of UBE3A or alters its function.
  3. Imprinting Center Defect – this affects about 6% of cases of AS and occurs when there is an abnormality in the imprinting center of the chromosome 15 inherited from the mother. The imprinting center is the area of the chromosome that controls whether genes are turned on or off. So, even though UBE3A from the mother may be present, the problem in the imprinting center makes the UBE3A gene unavailable to the brain.
  4. Paternal Uniparental Disomy (UPD) – this affects about 3% of cases of AS and occurs when there are two chromosome 15 from the father, but none from the mother. Since the UBE3A from the father is silenced or turned off, and the one from the mother is absent, the brain cannot get the information it needs from UBE3A.

(APA, 2020; Dagli et al, 2021; Morris & Morris, 1998)


Symptoms of Angelman Syndrome

Those affected by this syndrome usually begging to show signs of delayed development around the age of 6 to 12 months. Each individual with Angelman syndrome is unique, so they may have one or more of the following symptoms: 

  • Frequent laughter and smiling.
  • Easily excitable, often expressed through hand flapping or walking with arms in the air.
  • Jerky body movements.
  • Tremors.
  • Delays in motor development.
  • Problems with movement and balance.
  • Little or no speech.
  • Mouthing of objects.
  • Short attention span.
  • Hyperactivity. 
  • Feeding difficulties.
  • Sleep problems and a need for less sleep. 
  • Tongue thrusting.
  • Crossed eyes (Strabismus).
  • Small head size with flatness in the back of the head.
  • A lower jaw that juts out.
  • Light pigmentation in the hair skin and eyes.
  • Delayed development such as being unable to sit unsupported or making babbling sounds/noises.
  • Severe communication impairment.
  • Intellectual disability.
  • Seizure disorders usually starting before the age of 3 years.



American Psychological Association (2020). Angelman Syndrome.

Dagli, A. I., Mathews, J., & Williams C. A. (2021). Angelman Syndrome. National Center for Biotechnology Information.

Morris, R. J., & Morris, Y. P. (1998). Angelman syndrome. In L. Phelps (Ed.), Health-related disorders in children and adolescents: A guidebook for understanding and educating (pp. 50–55). American Psychological Association.


Behaviour Help

If you are supporting an individual with this diagnosis, please refer to our services and resources. They aim to help children, adolescents and adults achieve better communication, social, emotional, behavioural and learning outcomes. So whether you are wanting guidance on parenting, teaching, supporting or providing therapy, Behaviour Help is at hand.

Note: This is not an exhaustive list of all the possible causes, symptoms and types but some general information that can be further explored. Based on what you have read if you have any concerns about an individual, please raise them with the individual/s. The caregiver can then raise these concerns with their local doctor who can provide a referral to the relevant professional (e.g. paediatrician, psychologist, psychiatrist, allied health professional and learning specialists) for diagnosis and treatment if appropriate.

Which resources are right for you?


Based on the Taking CHARGE of Rainbow of Emotions Workbook this app helps children of all ages develop emotional regulation skills. The app guides the child to firstly, identify and express their emotion in appropriate ways. Then the child is guided to use emotional management tool/s from the CHARGE tool kit to manage their emotions in a healthy way.

The acronym CHARGE stands for the different categories of emotional management tools – Chat tools, Helpful thinking tools, Amusement tools, Relaxation tools, Good routine tools and Exercise tools.

Behaviour Help App - Using the evidence-based approach of Positive Behaviour Support (PBS), the Behaviour Help web-based app allows people supporting individuals with emotional and behavioural difficulties to complete a Functional Behaviour Analysis and put together a comprehensive Behaviour Support Plan (BSP). The BSP can then be used by everyone interacting with the individual to manage and prevent challenging behaviours and ultimately improve their lives, and the lives of those who support them.


If you want to learn more about emotional and behavioural difficulties then we have a great range of books you can read on your Kindle or order from Amazon.


Personalised and practical one to one help tailored specifically to your family.

Online Courses

Access these online courses anytime online to learn about a range of diagnoses, practical skills and strategies to help develop the individual’s emotional regulation skills. Also learn to utilise the positive behaviour support framework to address anxiety, aggression, ADHD, ASD and ODD.

SEL Educational Videos

Minimise or eliminate the occurrence of challenging behaviours by teaching children of all ages appropriate ways of communicating, interacting, managing their emotions and behaviours.

The SEL curriculum uses video modelling to provide direct, explicit and systematic teaching of the various skills by discussing the importance of the skill, modelling the skill so the child learns what the skill looks like? sounds like? feels like? and learn the skill in staged situations that simulate real life scenarios.


Personalised and practical behaviour therapy tailored specifically to your family.


Webinars discuss a range of practical strategies to guide your child learn positive ways of behaving and managing their emotions.


Attend our practical and interactive workshops to learn about a range of diagnoses, practical skills and strategies to help develop the individual’s emotions, behaviours, social and communication skills in your learning environment.

Ask Dolly

Since you’re here, you probably have questions and concerns. I am Dolly Bhargava, am here to help. I am a NDIS registered behaviour support practitioner and speech pathologist.

I have worked in a number of settings for over 21 years so, how can I help?

Please tell me what is worrying you right now and I will do my best to recommend resources and/or services that will be most useful to you in your situation.

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