Angelman Syndrome

What Is Angelman Syndrome?

Angelman Syndrome is a rare neuro-genetic disorder, which was first described by paediatrician Dr Harry Angelman in 1965. It is characterised by significant intellectual disability, speech difficulties, sleep disturbances, unsteady gait and seizures. In addition, children with Angelman Syndrome usually present with a happy demeanour.

Angelman Syndrome Characteristics

Angelman Syndrome occurs in approximately one per 20,000 births.  It is a permanent condition, but is not degenerative. Assessment of the physical and behavioural characteristics of Angelman Syndrome assists in its diagnosis.

Common features include:

• Significant intellectual disability and developmental delay. This may include delay in the development of rolling, sitting, walking, toilet training and fine motor skills
• Significant speech difficulties. This may include little to no verbal communication. Receptive language (understanding) skills are generally more advanced than verbal expression.
• Balance difficulties and ataxia (reduced coordination) of gait
• Often present with frequent laughter/smiles, happy demeanour and excitable
• May present with hand flapping (in conjunction with excitement), short attention span and hyperactivity

Other characteristics seen include:

• Small head size (usually by two years of age) and seizures
• Tongue protrusion or thrust
• Prominent jaw
• Deep set eyes
• Feeding or suck/swallowing difficulties
• Excessive chewing movements and drooling
• Scoliosis
• Strabismus

However, keep in mind a child with Angelman Syndrome may not demonstrate all of these characteristics and diagnostic and genetic testing needs to be completed in consultation with a paediatrician.

(For more information regarding characteristics, see: Angelman Syndrome Association)

Is there a cure?

There is currently no cure for Angelman Syndrome.  Research has found that the AS gene is found on chromosome 15 (in most cases) and there is a relatively equal gender distribution between boys and girls. Continuing research endeavours to find out why it occurs.

Speech therapy can help people with Angelman Syndrome

Speech therapy involves more than just producing sounds and words. A speech pathologist aims to facilitate the development and improvement of individuals’ speech, language, communication, swallowing, cognitive communication and sensory awareness.

Establishing a means of functional communication can help a child with behavioural issues that may be associated with the frustration that comes with difficulty making their needs, wants and opinions known.

Most children with Angelman Syndrome will need intensive language and communication support where a speech pathologist will aim to work with a wide range of communication tools in order to assist each child in finding an effective means of communicating. It is important to remember that communication is not just talking – it includes body language, facial expression, pointing, gestures, key word signing, using pictures or using an alternative augmentative communication device.

It is important to remember that children with Angelman Syndrome are able to learn and intensity, repetition and consistency are keys to enhancing a child’s communication development. As a child continues to develop communication skills, new learning and therapies should be integrated. A speech pathologist will often work in conjunction with physiotherapists, occupational therapists and other early childhood health professionals.

Contact us for results focused speech therapy

This article was written by our Speech Pathologist Jenna Butterworth who is a Speech Pathology Australia member.

If you have questions about speech therapy for children with Angelman Syndrome, contact your local doctor, who will arrange for you to see a speech pathologist. Contact us today!

Related links

For more information information about Angelman Syndrome see Angelman Syndrome Association of Australia

References

1. Dan, B. (2009).  Angelman syndrome: Current understanding and research prospects.  Epilepsia, 50(11).
2. Genetic and Rare Diseases Information Centre (2012). Angelman Syndrome.  Retrieved on 07/08/13 from National Institute of Health
3. Guerrine, R., Carrozzo, R., Rinaldi, R. & Bonanni, P. (2003).  Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. Paediatric Drugs, 5(10), 647-61.
4. State Government of Victoria (2013). Angelman Syndrome. Victoria, Australia: Victorian Clinical Genetics Services (VCGS). Retrieved on 07/08/13 from Better Health Channel
5. Williams, C.A. (2005).  Neurological aspects of the Angelman syndrome.  Brain Development, 27(2), 88-94.