angelman syndrome an information guide for day services
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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.
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