Angelman Syndrome Presented by Mark Cranage - PowerPoint Presentation

1. Angelman Syndrome Presented by Mark CranageForensic Behavioural Health Specialist

2. PurposeThe purpose of this training is to increase your level of knowledge when caring with someone with Angelman SyndromeIntroductions including staff discussions and background information including qualifications, experience and discussions on observed behaviors of concern.To become part of a team and encourage working towards achieving the goals for Cody

3. Course aims and objectivesThe aim of this course is to give you a basic level of knowledge about Angelman Syndrome: its characteristics, aetiology, diagnosis, and treatment.

4. CodyWho is CodyAngelman syndrome is a genetic disorder that mainly affects the nervous system. Symptoms include a  small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. Children usually have a happy personality and have a particular interest in water. The symptoms generally become noticeable by one year of age

5. CodyAlthough individuals with Angelman syndrome show high levels of smiling and laughing behaviour, it is hard to say whether this reflects Cody feeling happy and to what extent.  This is hard concept to research due to certain research methods, such as an individual reporting about feelings, being restricted because of impairments in expressive language or reduced insight.Individuals with Angelman syndrome are often reported to have a fascination with water and shiny/reflective objects, the prevalence of which is around 14%.  Research has also found that individuals with Angelman syndrome show this preference for water-related objects/activities relative to other activities and individuals without Angelman syndrome.  This may be related to sensory processing in the syndrome

6. Sensory ProcessingIn Angelman syndrome, sensory seeking behaviours seem to be more common than both hypo and hyper-responsivity. This suggests that the sensory processing difficulties observed in the syndrome may partially be driven by a preference for certain sensory stimuli. For example, individuals with Angelman syndrome are often described as having a fascination with water and shiny/reflective objects which may be associated with the sensory stimulation that are provided by such items

7. Angelman Syndrome and its historyHarry Angelman a paediatrician working in Warrington England, first reported three children with this condition in 1965. Angelman later described his choice of the title "Puppet Children" to describe these cases as being related to an oil painting he had seen while vacationing in Italy

8. Angelman Syndrome and its history

9. Angelman Syndrome and its history

10. Angelman signs and symptomsDevelopmental delays, Intellectual disabilityNo speech or minimal speechDifficulty walking, moving or balancing wellFrequent smiling and laughterHappy, excitable personalitySucking or feeding difficultyTrouble going to sleep and staying asleep

11. HomeostasisHomeostasis is any self-regulating process by which an organism tends to maintain stability while adjusting to conditions that are best for its survival

12. BehaviourThe next slide is a film presenting an insight into what behaviours are commonly seen in people with Angelman Syndrome. You get to hear from families who have adapted their lives to suit Angelman Syndrome and its characteristics. Some common behaviours include; determination, excitement, love of food, therefore grabbing food, pulling hair, stubbornness, chewing clothes, a short attention span, hugging, and reaching out for objects and people in the surrounding environment.

13. Behaviour

14. “Problems are not the problem; coping is the problem,”

15. AetiologyAngelman syndrome is due to a lack of function of part of chromosome 15 typically due to a new mutation rather than one inherited from a person's parents. Most of the time, it is due to a deletion or mutation of a gene on a chromosome. Occasionally, it is due to inheriting two copies of chromosome 15 from a person's father and none from their mother. As the father's versions are inactivated by a process known as genomic imprinting, no functional version of the gene remains. Diagnosis is based on symptoms and possibly genetic testing.

16. Understanding Challenging BehavioursAngelman UK asked families what their experience of Challenging Behaviour is and if they could explain what it means to them. Many children and adults with Angelman Syndrome will show some behaviours that are challenging at some point in their lives and the term can be used to describe many different things. Challenging behaviour is a term that can be used to describe physically challenging behaviour such as; biting, kicking, pulling hair or self harming. However, it can also be used to describe something that is ongoing and difficult to manage such as; stubbornness, refusals i.e.. refusing to leave a place, difficulty staying still and waiting in queues, obsessions with automatic doors, or repeatedly shredding nappies or toys. These behaviours can be linked to many things such as puberty, epilepsy, general illness, boredom, over excitement, side effects of medication, and as a means to communicate a message

17. Understanding Challenging Behaviours

18. Challenging Behaviour‘Behaviours that challenge’ means any behaviour having a negative impact on Cody’s well-being and/or leading to his exclusion from the community. These behaviours are those that most people would find difficult to watch, or cope with. They include self-injury, aggression, shouting, screaming and others. The term ‘behaviours that challenge’ does not mean that there is something about Cody that is challenging. The degree to which behaviour is seen as challenging will depend on the environment and situation in which it occurs

19. CausesPain and discomfort   Treatment of underlying health difficulties (eg reflux, constipation, problems with teeth, ears etc) follow by regular monitoring may help to reduce behaviour.

20. CausesSensory reinforcement   There are many strategies to help reduce behaviours maintained by sensory reinforcement. Understanding the kind of sensory reinforcement, Cody is receiving from the behaviour and trying to provide that via other means may be helpful. Increasing the general level of sensory experiences, Cody has throughout the day may also be helpful.

21. CausesExternal causes   External factors, including access to social interaction, escape from a demand, access to a preferred object or activity, escape from social contact, and escape from an aversive sensory experience may increase the level of behaviours that challenge. Interventions for these behaviours usually involve teaching a person an alternative way to communicate what they want and changing their environment so that the thing they want is available as much as possible. This might involve teaching a sign, giving access to visual clues (such as photos or objects of reference), or helping Cody to use a communication system. It is not always possible for Cody to have the thing he wants when he signals for it and at these times it is important to help Cody discriminate when the thing they want is and is not available

22. ComplicationsFeeding difficulties. Difficulty coordinating sucking and swallowing may cause feeding problems in infants. Hyperactivity. Children with Angelman syndrome often move quickly from one activity to another, have a short attention span, and keep their hands or a toy in their mouths. Hyperactivity often decreases with age, and medication usually isn't necessary.

23. ComplicationsSleep disorders. People with Angelman syndrome often have abnormal sleep-wake patterns and may require less sleep than most people. Sleep difficulties may improve with age. Medication and behaviour therapy may help control sleep disorders.Curvature of the spine (scoliosis). Some people with Angelman syndrome develop an abnormal side-to-side spinal curvature over time.Obesity. Older children with Angelman syndrome tend to have large appetites, which may lead to obesity

24. Types of BehavioursSelf-Injurious Behaviour in Angelman Syndrome   Self-injurious behaviour means any non-accidental behaviour (i.e., accidentally bumping your head on the wall would not be classed as self-injury whereas intentionally hitting your head on the wall would) that has the potential to cause some kind of damage such as reddening, bruising, bleeding, hair loss, etc. The types of self-injurious behaviour shown by individuals with Angelman Syndrome were quite variable, however, they included self-hitting (with body or object), self-biting and self-pulling, rubbing or scratching.

25. Types of BehavioursAggressive Behaviour in Angelman Syndrome   Aggressive behaviour means any behaviour that has the potential to cause injury to another person and does not imply that an individual with Angelman Syndrome is intentionally trying to hurt another person. In a recent study, 7 out of 10 individuals with Angelman Syndrome showed aggressive behaviour. It was also found that individuals who displayed aggressive behaviour were more likely to score highly on measures of impulsivity and overactivity. Common forms of aggression seen in Angelman Syndrome are hair pulling and grabbing, although many other forms may occur such as hitting, kicking, scratching and biting.

26. When is aggression Likely to OccurAggressive behaviour in Angelman Syndrome is more likely to occur when levels of adult attention are low, suggesting that individuals are engaging in the behaviour to reinstate attention that they find rewarding or enjoyable. Aggressive behaviour may also be exhibited when levels of adult contact are high (i.e. during one-to-one interaction), implying that aggressive behaviour may also serve to maintain social contact, although there are of course many other reasons for aggressive behaviour.Many parents and carers report that aggressive behaviour is not malicious in any way and the individual has no intent to harm anyone else

27. Management of BehaviourSuccessful management of behaviours that challenge depends on several key aspects. Firstly, the intervention should improve Cody’s quality of life, rather than only suppressing an unwanted behaviour. Secondly, the intervention should always be based on an assessment of the behaviour- It is important to have a good idea about the cause of the behaviours before trying to reduce them. Behaviour can be caused by different things for different individuals, so trying to change behaviour without fully understanding it can lead to the behaviour becoming more ingrained over time. No intervention should ever be restrictive

28. Be ConsistentWhen teaching a new form of communication, episodes of behaviours that challenge may be seen to increase for a short time. This is a natural part of behaviour change and is known as an ‘extinction burst'. For new forms of communication to be successful, the old form (the behaviours that challenge) need to be less successful. When families change the way they respond to behaviour, such as ignoring it, the person with Angelman Syndrome may show more behaviour as they try harder to make their needs known. Over time the behaviour will decrease.It is very important that not to ignore behaviours that challenge without additionally teaching an alternative communication strategy, otherwise the person has no way to communicate their needs.

29. Be Consistent