Angelman Syndrome: an Information Guide for Day Services.

Karyn Willoughby BSocSc MSc (Development Studies)

For Oakleigh Centre

773 Warrigal Rd, Oakleigh, Victoria 3166

03 9569 0603

Karry-w@hotmail.com

http://www.oakleighcentre.org/

April 2013

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I realize that I'm generalizing here, but as is often the case when I generalize, I don't care. Dave Barry

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Index

Contents Page

Section 1: Introduction 3

Section 2: Angelman Syndrome 4-6

Section 3: Physical and Behavioural characteristics of Angelman syndrome 6-8

Section 4: Supporting people with Angelman Syndrome within a

Day service Environment 9-13

Section 5: Conclusion 14

Section 6: References 15-16

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Section 1: Introduction

We at Connections (day service department), Oakleigh Centre, have the privilege of working

with two participants who are affected by Angelman Syndrome (AS) who attend our day

service for people who have intellectual disabilities. As a team we work together to make

sure that each individual is provided with the highest possible standard of support and care to

achieve their goals, dreams and aspirations, and in doing so our participants continue and

develop new and existing skills. In order to continue to improve such support and care the

staff need to continually up skill and learn current information regarding our participants.

Oakleigh Centre is a company that is serious about ensuring this need is fulfilled. Oakleigh

Centre has asked me to write a report based on AS that would provide information for the day

service department, which can also be transferrable to other departments of the company.

This report has found that due to the nature of AS there is huge scope for the development of

new skills especially as a person gets older, therefore, it is our duty of care to make sure that

individuals with AS who attend our day service are supported to learn new skills. The

purpose of this report is to equip staff with theoretical and practical information to continue

and develop new and existing skills of a person who has AS. To achieve its aim, this report

will explain current scientific theory as to why AS is developed, it will describe what AS

looks like (behavioural and physical characteristics) and it will highlight a framework of

strategies may support people who have AS.

Before this report continues, however, it cannot be stressed enough that our participants who

have AS are individuals, and the information provided in this report must not be generalised.

The contents in this report are a guide and a generalisation and may not apply to each

individual. Also the information in this report is not based on any one individual; all

information comes from current literature. All staff must read our participants files to gain a

background understanding of each person and use the information in this report as a broad

guide to try new strategies. Please note that this report encompasses communication,

behavioural and independent living skills when the term skills is used.

For the purpose of clarity this report will be broken down into sections, section one, this

section, is the Introduction. Section two Angelman Syndrome, will describe what AS is

from a scientific view. Section three Physical and Behavioural Characteristics of Angelman

Syndrome contains a description of AS from a physical and behavioural point of view.

Section four Supporting people with Angelman Syndrome within a Day Service

Environment will highlight a framework of strategies that work best for people who have

AS. This framework can assist in support our participants to achieve new skills and

maximum social, behavioural and intellectual development. The information used for this

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report is based on current literature and a list of references is contained in section five

references.

Section 2: Angelman Syndrome

To understand why Angelman Syndrome comes about, we must look at genetics. Although

the science behind AS is not essential information to day service staff, learning why AS is

developed is a good starting point for gaining a full understanding of this syndrome.

Angelman syndrome (AS) is a very rare genetic condition that affects both men and women

equally. Studies show that approximately 1 in 160 people in Australia have Autism spectrum

disorder, which affects more men than women (Autism Spectrum Australia 2009: 1). The

rarity of AS can be seen clearly beside this fact, where 1 in 15/20,000 people born have this

condition (Angelman Syndrome Association 2012). AS is a condition that is developed

within a foetus at fertilisation. The human body is made up of cells and each cell (except the

male and female reproductive cells) contains 23 pairs of chromosomes, 46 single

chromosome strands in total. The function of chromosomes is to hold genes; genes give the

human body characteristics, for example brown hair or blue eyes. The female egg has 23

chromosomes and the male sperm has 23 chromosomes. When the egg and the sperm come

together the 23 chromosomes from each cell join together to create pairs and form a cell with

46 single strands of chromosomes, this cell further multiplies to create a foetus; each pair of

chromosomes will contain genes (characteristics) from the mother and father. Figure 1

contains an image of chromosomes seen in every single human cell (except reproduction

cells).

Figure 1: Diagram of Chromosomes

Source: www.cureangelman.org (2008)

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Angelman syndrome occurs when there is an alteration with a gene on chromosome 15.

There is a gene on both strands of chromosome 15 called UBE3A. UBE3A is silent on the

chromosome that we inherit from our fathers; we only use UBE3A on the mothers side of

chromosome 15. AS comes about when UBE3A is either deleted, has not formed typically on

the mothers side of chromosome 15 or when there are two copies of the fathers gene

(Uniparental Disomy). Research has described 5 different ways AS develops at conception

which is illustrated in figure 2. Angelman Syndrome Association (2012) describes the five

scientific causes of AS. The first and most popular cause of AS, (80% of cases) are due to a

deletion of UBE3A on the maternal strand of chromosome 15. The second cause is called

uniparental disomy (UPD) where both strands of chromosome 15 are inherited from the

father (UBE3A is silent on the paternal strand of chromosome 15). The third and fourth

causes are rarer and they stem from a mutation of UBE3A and the gene does not fulfil its

function typically. The final cause is unknown, in less than 10% of persons with Angelman

syndrome, none of the changes mentioned above has been identified (Angelman Syndrome

Association 2012).

Figure 2: UBE3A on chromosome 15

Source: www.cureangelman.org (2008)

It has been found that individuals who have UBE3A deletion have more severe epilepsy,

have severe to profound intellectual disability are non-verbal and walk later than children

with other genetic subtypes of AS (Peters et. al. 2004: 110). Peters et. al. (2004: 110) have

also stated that some studies have found those who are born with chromosome 15 comprising

of two chromosomes from the father, he or she is born with higher cognitive skills, have a

delayed onset of seizures, and have fewer motor difficulties.

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There has been a breakthrough in current research related to AS. As previously mentioned the gene

UBE3A is active on the female side of chromosome 15 and mostly silent on the male chromosome 15.

Researchers found mice that had the same chromosome related abnormalities that humans with AS

have, and had similar characteristics. These researchers have found that a type of anti-cancer drug that

is called a Topoisomerase inhibitor that can active the silent copy of UBE3A on the paternal side of

chromosome 15 which consequently eliminated the AS symptoms in mice. The fact that this drug can

activate UBE3A may have great implications for developing new strategies of chemical management

of Angelman syndrome (Dan 2012:2). At time of writing research is currently being undertaken in

Florida to test the drug minocycline, this drug is usually used as an antibiotic for more information

information is posted on http://www.cureangelman.org/news/ClinicalTrial/ClinicalTrial-

Announcement.html. More research needs to be undertaken to figure out if the same or similar drug

related treatment can be applied to humans.

Section 3: Physical and Behavioural characteristics of Angelman

syndrome.

Angelman syndrome has been described long before the science surrounding the gene

UBE3A was known. Angelman syndrome had fist come about in 1965 when Dr Harry

Angelman noticed a similarity in three of his patients. After being inspired by an oil painting

called boy with a puppet, Dr Angelman described these children as having Happy puppet

syndrome due to their jerky movements, severe developmental delay, seizures and happy

disposition (Williams 2010). It goes without saying that this term is now considered

derogatory and Angelman syndrome is the only term used. At that time science was not as

advanced as it is today, however Dr Angelman had described this syndrome purely by

physical and behavioural characteristics alone. AS was not researched again until the 1980s,

some doctors even argued it didnt exist, and it is not until recently that scientifically based

diagnosis has been concretely made (Angelman Syndrome Association 2004: Section 2).

Diagnosis of AS is achieved through the combined assessment of the childs features

(loosely), and more importantly behaviours and genetics. Table 1 on page 10 contains a list of

features that may be present, in someone who has AS. The information used for this table was

derived from the Angelman Syndrome Associations (2012) brochure. The physical features

characteristic of someone who has AS are broad and can vary from person to person. It is

impossible to diagnose AS purely on physical features alone as they can be associated with

other intellectual disabilities. Usually with someone who has AS they have movement and

balance disorder and lack of muscle co-ordination while walking. 80% of people who have

AS can have a small head size and an abnormal EEG. This EEG abnormality can improve

with age. Other physical characteristics can include a wide mouth, frequent drooling, blond

hair, light skin (hypopigmentation) to name but a few (see table 1).

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Behavioural characteristics of those who have AS are more striking. The most striking of

which is that of their happy disposition that is apparent in 100% of people who have AS. This

happy disposition includes frequent smiling and laughing that can occur with very little

stimuli. People who have AS also have a severe intellectual disability and the level of

intellectual disability of people with AS can vary dramatically. Many individuals seem to

show unfocused, non-goal related actions, and a lack of sustained attention to others, others

show some babbling, use of gestures, turn-taking and relatively well-developed receptive

language skills (Williams et. al., 1995 cited in Cassidy et. al. 2000: 139). Hyperactivity and

having a short attention span is also very common however this can improve with age. Please

see table 1 for more information.

It must be highlighted that people who have AS also show a range of different emotions,

children can express temper tantrums etc., however it is often the case that the happy

disposition is a dominant expression. Individuals who have a more severe intellectual

disability severe seizure disorders and unstable family or out of home placements may be

less likely to exhibit an apparent happy demeanour (Williams 2010: 434)

Almost all people born with AS (80%) experience a hard to treat seizure disorder. Such

seizures are usually apparent before the age of three; however it can improve with age. It is

important to note that those who have AS due to a UBE3A deletion often experience more

difficult seizures than other diagnosis (Angelman Syndrome Association 2004). It is therefore

staffs responsibility to ensure they know if a participant has suffered from epilepsy in the

past/present, know their epilepsy strategy and be mindful of the persons or other potential

triggers (heat, illness, strobe lighting, car journeys etc).

People who have AS have a delayed but non regressive development and his or her

concentration span increases with age (Clayton-Smith and Laan 2013: 88). Due to this non

regression of development and an improvement of concentration span with age, there is

significant scope for an increase in communication skills (be it verbal or non-verbal

communication) and behavioural and independent living skills to develop. It is therefore day

services staff to ensure they support these people in continuing and developing new and

existing skills.

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Angelman Syndrome Association 2012

Table 1: Physical features of Angelman syndrome.

Always Seen/Consistent

(100%)

Usually seen/Frequent

(more than 80%)

Sometimes seen/Associated

(20-80%)

Severe developmental delay

(sitting, walking, fine motor

skills etc) evident by 6-12

months of age

small head size noticeable

from the age of 2 years

Flat occiput (back of head)

wide based gait

tendency to hold arms flexed

while walking

Profound speech impairment Seizures (often emerge

before the age of 3 years)

protruding tongue

increased sensitivity to heat

Receptive and non-verbal

communication skills are

higher than verbal ones

Abnormal EEG (brain wave

pattern)

tongue thrust, suck/swallow

disorders

sleep disturbance

movement or balance

disorder

feeding problems during

infancy

ataxia of gait (lack of muscle

co-ordination when walking)

wide mouth and widely

spaced teeth

behavioural uniqueness

(happy, smiling, excitable

disposition, short attention

span, hyperactivity)

frequent drooling

scoliosis

high pain threshold

attraction to water

Strabismus (crossed eye)

hypo pigmented skin, light

hair and eye colour

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Section 4: Supporting people with Angelman Syndrome within a Day

service Environment

A framework of best practice when working with specific disabilities is extremely important

for managing behaviour, assisting with the development of new skills and ensuring a

participant (and staff) has a good day. If a staff member who is new to the sector asks an

existing staff who works or has worked with individuals who have Autism can you tell me

how to work with people who have autism? I am sure the reply would go something like

this: each person is very different however keep in mind routine, structure, boundaries,

literal statements, clear short sentences (etc). This is a framework that we have all learnt

works best when working with people who have autism, a generalisation in which elements

can be applied to each individual. This report would like to create a similar framework for

those people who have AS. It will explore what works best, create a clear framework

highlighting such findings that are stated in literature and collaborate such findings with day

to day examples within a day service environment. It must be noted that there is very limited

literature surrounding best practice working with people who have AS and further research

needs to be undertaken to create a more detailed and scientifically sound framework.

A general framework in conjunction with a personal care plan, knowledge of what strategies

work for a particular person and an insight into their condition allows for the development of

new and existing skills. A general framework of practical strategies can provide staff with

information and new strategies in which we may not have tried before. Again, it cannot be

stressed enough that the framework this research highlights is general and must be kept in

mind in conjunction with what strategies we know works best for the individual.

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Routine and Structure

Individuals with Angelman syndrome learn best through repetition and structure. Plan well

and make learning a game (Vanderbilt Kennedy Centre 2010:1). As repetition and structure

is an important strategy for people with AS to maximise skills, day services must ensure that

this strategy is applied on a long term level as well as within each activity that the person

participants in.

A great example of how we provide our participants with consistent routine and structure in

Connections can be seen in the way we create and ensure a weekly routine and structure for

a 6 month semester.

Within the overall routine and structure of the weekly timetable, we must ensure to repeat this

strategy within our activities that we create for our participants.

Writing the routine into activity folders is a great example of how we ensure routine and

structure on an activity level at Connections, to ensure unfamiliar staff maintains such

routine, which will consequently assist in maximising learning and participation within the

group.

Consistency

Consistency is the key for teaching new skills or positive behaviour. If you are teaching

behaviour modification for example hands down if a person is trying to grab you, the

behaviour that is being focused on to change may get worse before getting better. However if

all staff repeatedly use the same strategies again and again positive behaviour will eventually

be learnt. Angelman Syndrome Association (2004) gave a great example to demonstrate the

challenges of implementing a positive behaviour strategy:

Simply put you have learnt that if you turn the kettle on it will eventually boil

(provided you have enough water in it). If nothing happens what would you do?

Thats right youd try again. You have just used a behaviour. There is no difference

with someone who is using unacceptable behaviour- theyd just try again and again

until they realised that it doesnt work anymore. Then they would try something

different to try and get the same result- just like you would with the kettle (Angelman

Syndrome Association Australia 2004)

All staff should be working together consistently with the individual to ensure the

participants are practicing existing skills, developing new skills or learning positive

behaviour.

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Literature has suggested some great strategies to use as a reward when supporting individuals

with AS to learn new skills. Literature suggests that when people with AS grab/push/pull they

are looking for attention or social interaction. When practicing new skills or encouraging

positive behaviour, social interaction or water related play (if the person enjoys this) can be a

great strategy to support this change. It is a method of positive encouragement to instigate

change.

For example if a staff member approaches a person with AS who tends to grab them upon

greeting, the staff member implements the designated strategy e.g. hands on your lap . If

the positive behaviour is initiated by the participant a few minutes of social interaction could

be used as a reward.

Participation within activities.

The literature has made some recommendations as to some programmes that people with AS

may enjoy. These include:

Music therapy: Music therapy has been used to help people with learning difficulties express their thoughts and feelings and communicate with others in a

meaningful way (DYSCERNE: 2010:17).

Aromatherapy: Many people with AS enjoy the sensory experience of touch and

smell and this approach can aid relaxation, cooperation and listening, amongst other

benefits (DYSCERNE: 2010:17). There is evidence from parents, albeit anecdotal,

that massage and aromatherapy can improve [reducing] hyperactivity and

concentration (Clayton-Smith and Laan 2013: 93).

Hydrotherapy: Water-based therapies have been used successfully in managing aspects of AS, due to the common love of water in individuals with AS.

(DYSCERNE: 2010:17).

Staff members require strategies that work best in engaging people with AS in the activity,

which in turn assists supporting these individuals to learn new and continue existing skills.

The literature (Cassidy et al 2000 and Williams 2010) has suggested a number of useful

insights into what many people with AS enjoy that we could try to incorporate into our

programmes to encourage participation. These include:

Water play

Shiny objects (e.g. mirrors)

Plastic or musical objects

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Objects that make loud noises

Crinkly items (paper/plastics/stickers in art and craft workshops)

Social interaction

Touch screen tablets in conjunction with communication and education apps have

been known to be an extremely motivating method of learning and communication.

Outdoor activities

Outdoor activities are extremely important in learning new and continuing existing skills of a

person who has AS. Benefits include, but are not limited to, community access, exercise and

assisting good health (vitamin D). It is important for staff to be equipped with strategies to

support participation in outdoor activities. These include:

Overheating: Some individuals may experience overheating which can hamper

participation in outdoor activities. To minimise this staff can help the individual

control their body heat through the use of water bottle sprays, assist taking jumpers

are off when it is warm outside, using hand held fans, hats and allow the individual to

sit or walk in shaded areas.

Sun burn: Hypopigmentation is sometimes characteristic of AS and this increases risk

of sun burn. Staff is to ensure a high factor sun cream is to be used.

Danger: Staff must be mindful that all people who have AS sometimes have little

sense of danger and must be supervised at all times when out in the community.

Unsteady movement: Unsteady movement is a characteristic of AS in which some

people may experience. Staff is to ensure that a person is safe walking in the

community and avoid unstable/slippery ground where a person may trip up or fall.

Communication

Research has stated that people who have AS appear to have much better receptive

communication skills than expressive ability and therefore it is essential for staff to be

equipped with strategies that enhance communication between staff/ other participants and

those who have AS. Also as previously mentioned the acquisition of communication skills

may improve as a person gets older due to the increase in concentration span therefore

appropriate methods of communication must be used to support the development of such

skills.

Simple commands: Most [participants] will be able to understand simple commands

within the context of their daily routine (Clayton-Smith and Laan 2013: 88). We

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must use short, clear and direct sentences when communicating with people who have

AS.

Gesturing and makaton: making visual gestures and using key sign may also aid the

communication process. A minority [of participants] can communicate using a

formal sign language such as Makaton or the Picture Exchange Communication

Systems (PECS). Others use gestures to communicate (Clayton-Smith and Laan

2013: 88).

Enthusiastic: Williams (2010) has noted that people with AS prefer to approach

people with animated gesturing and exuberant emotionality.

Non-verbal communication: For those who do not communicate verbally, they may

bring staff to what they would like, walk towards objects e.g. toilet door or by

pointing. Staff is to be aware of this and update their files when new non-verbal

communication is displayed allowing for unfamiliar staff to know exactly how a

person communicates.

Behaviours such as grabbing, pinching, biting and slapping can also be apparent in

people with AS aimed at maintaining or re-establishing social interaction (Strachan

et. al., 2009 cited in Williams 2010: 434).

Choices: Some people with AS learn to walk and make choices as to what they wear,

want to watch on a dvd, food etc. We must ensure that people who have AS have the

opportunity to express their choices on a regular bases. Visual pictorial aids may

allow for this, or bringing the objects to a person, e.g. bring the can of milo and jar of

coffee, or two dvd boxes to choose from.

Touch screen tablets in conjunction with communication apps may encourage

communication.

Lunch time

At lunch time staff are to support our participants who have AS to ensure maximum

independence. People with AS can usually feed themselves using basic utensils we must

ensure our participants have maximum independence during lunch time. We should use as

required, sticky mats (that bowls/plates stick to), easy to use bowels, big curved spoons, food

chopped appropriately, cups with handles, clothing protectors etc. during this time staff

should provide a choice as to what the person would like to eat next. It is important to note

some individuals may not like drinking and to avoid dehydration and constipation we must

promote water drinking. This may be through using incentives (like lunch) and by using jelly.

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Section 5: Conclusion

The purpose of this report was to equip staff with theoretical and practical information to

continue and develop new and existing skills of a person who has AS and it successfully did

so. The report highlighted why AS is developed, through the deletion or malfunction of the

gene UBE3A. This report contains a framework of best practice that provides staff with a

useful tool to ensuring the development of new and practice of existing skills is maintained.

To summarise section four: routine, structure and consistency works best for most people

who have AS and these strategies must be applied within their long term routine and within

activities that they attend at Connections. Literature has recommended aromatherapy,

hydrotherapy and music therapy works can be enjoyable and beneficial activities for someone

who has AS. Within activities there are some useful tools that can be used to encourage the

participation of someone who has AS for example water play, loud objects, crinkly paper and

social interaction. There are a number of considerations to support outdoor participation

including sun screen, ensuring the participant is cool and ensuring their safety at all times.

People who have AS often have great receptive communication skills so communication

strategies are essential to maximising this process and encouraging new skills. Literature has

suggested using simple commands, gestures, pictures, key sign and animated facial

expressions to support effective communication.

The framework highlighted in section 4 is a generalisation however elements may apply to

certain individuals. As previously mentioned the literature lacks in this area and more

evidence based research must be carried out to expand on strategies of best practice for

people who have AS.

To conclude, Angelman Syndrome is a fascinating syndrome where its nature allows for the

development of new skills to be achieved during a persons lifetime. This report has

highlighted invaluable information as to how we can fulfil our duty of care in supporting our

participants who has AS to continue to develop their skills. As professionals, carers and

friends of people who have Angelman Syndrome, adapting some new techniques into our

approach can support a lifetime of learning opportunities and enhancing the activities we

deliver at Connections.

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Section 6: References

Angelman Syndrome Association (2012) What is Angelman Syndrome? Angelman

Syndrome Association Incorporated Australia: New South Wales.

Angelman Syndrome Association (2004) Angelman Syndrome; Information Package for

Families, Carers and Professionals Angelman Syndrome Association incorporated Australia:

New South Wales.

Autism Spectrum Australia (2009) What are Autism Spectrum Disorders. Available from:

[accessed on 27th

of February 2013].

Autism Spectrum Australia: New South Wales.

Burdine, R. D., and Sheldon, E. (2008) Diagram of Chromosomes. Available from:

[accessed on 27/2/2013].

Burdine, R. D., and Sheldon, E. (2008) Diagram of Chromosomes containing UBE3A.

Available from: < http://www.cureangelman.org/what-genetics101.html> [accessed on

27/2/2013].

Cassidy, S., Dykens, E., and Williams, C. A. (2000) Prader-Willi and Angelman Syndromes:

Sister Imprinted Disorders in American Journal of Medical Genetics. Vol. 97 Pg. 136-146.

Clayton-Smith, J. and Laan, L. (2013) Angelman Syndrome: a Review of the Clinical and

Genetic Aspects available from jmg.bmj.com published by group.bmj.com.

Dan, B. (2012) Clinical summary of breakthrough in Angelman syndrome research Available from:

accessed on [25th

March 2013].

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DYSCERNE (2010) Management of Angelman Syndrome a Clinical Guidelines. Available

from:

[accessed on 18/3/2013] University of Manchester.

Peters, S., Goddard Finegold, J., Beaudet, A.L., Madduri, N., Turich, M., and Bacino, C.

(2004) Cognitive and Adaptive Behaviour Profiles of Children with Angelman Syndrome in

American Journal of Medical Genetics. Vol. 128A:110-113.

Vanderbilt Kennedy Centre (2010) Angelman Syndrome Tips and Resources. Available

from:

[Accessed on 5/3/2013].

Williams, C. A. (2010) The Behavioural Phenotype of the Angelman Syndrome in the

American Journal of Medical Genetics. Part C 154C: 432-437.