Angelman Syndrome is a rare condition and most people have not heard of it or met anyone with it, there will be many questions to be answered and each answer can throw up a million more. We have put together a list of some questions that are asked very frequently through emails or on our social media sites. This list is by no means exhaustive and the answers given here are suggestions of things to consider or places to start rather than a complete solution.
If you are new to the diagnosis of Angelman Syndrome you will have no doubt come across the statement that a cure for Angelman Syndrome is possible. There is no disputing the fact that science has moved on incredibly quickly in recent years, thanks in no small part to the AS organisations who have aggressively funded scientific research with a cure in mind. However, whilst AngelmanUK actively funds scientific research through the Angelman Syndrome Alliance, we urge parents and carers to be cautious when reading sweeping statements about curing a genetic disorder such as Angelman Syndrome.
AngelmanUK is optimistic that the advancement of scientific research will see an improvement in the treatments and medications available to treat some of the symptoms and characteristics of Angelman Syndrome, such as seizures, Gastro-Intestinal issues or the lack of sleep etc. Advanced technology, training and an increase in both parents and professionals presuming competence is also allowing those with Complex Communication Needs to communicate in ways that would have never been possible in years gone by.
There are currently no research trials taking place in the UK, however if and when opportunities arise we will be letting our families know through our online media and the newsletter. For more information about the scientists and researchers working hard to help our loved ones please see ‘Who’s who’ under the Research tab.
In all the cells in our bodies, we have 22 pairs of chromosomes and two extra chromosomes that determine our biological gender (females are XX, males are XY). For each pair, we acquire one copy from our mother (the maternal copy) and one from our father (the paternal copy).
Under the microscope, each chromosome looks like two cylinders joined together. One cylinder is shorter (called the ‘p’ arm) and one is longer (called the ‘q’ arm). Each arm can be seen to have separate regions (appearing as bands under the microscope) which are numbered. Each chromosome is home to thousands of different genes, small packets of information that contribute together to make each unique person. Angelman Syndrome is caused by problems with a single gene, UBE3A, situated on chromosome 15, in the region 11-13 of the ‘q’ arm – referred to as 15q11-13.
UBE3A makes a protein called E6-AP ubiquitin protein ligase. It is a “housekeeping” gene, responsible for the basic maintenance of cells. In the brain, only the maternal copy is “switched on”. The paternal copy is present, but is “switched off”. This is known as imprinting. For most genes, where both copies are present and “switched on”, if one copy becomes damaged, the other copy simply takes up the slack and there are no issues. However, when a gene is imprinted in this way, any disruption to the “switched on“ copy causes issues as there is no back-up version.
Glossary
Below is a list of some terms and expressions you may read about or hear in connection with Angelman Syndrome.
Augmentative Alternative Communication (AAC)
Any form of non-verbal communication, eg facial expression, gestures, sign language, pictures, language systems.
Advocate/Advocacy
Advocacy is the process of negotiating until a resolution has been reached either in favour or against. An advocate is anyone (eg a family member, support staff, service management, a friend or an independent member of the community) who actively negotiates on behalf of a person with a disability. The advocate may be trying to obtain a service, a particular aspect of a service, supporting someone in ensuring that his or her individual or civil rights are being upheld.
Case Management – Case Manager/Case Worker/Key Worker
With Angelman Syndrome, there are two professionals who most typify the role of case manager – the GP who determines that certain specialists are needed then refers the patient on to them. They then provide the follow up support on an ongoing basis typical of a case manager. Another example is a paediatrician who performs a similar role in referring to and consulting with neurologists, occupational therapists, physiotherapists etc on a regular basis. A case worker may also be a social worker who will help you access direct payments or respite.
Challenging Behaviour
This is the behaviour of a person with a disability is of such intensity, frequency or duration that the physical safety of the person or those nearby is put at risk. The behaviour may also limit the person’s ability to participate in daily life and enjoy the wider experiences. Challenging behaviour is something that is seen, felt or heard that is not socially acceptable conduct. Severe challenging behaviour involves physical or verbal abuse that can cause harm.
Disability Living Allowance (DLA)
A payment made to a person under the age of 16 in the UK who meets specific criteria in requiring additional aspects of over and above the needs of a person the same age who doesn’t have any disability. There are two components, care and mobility. There are different levels (low middle or high).
Early Intervention
Specifically in the area of intellectual or physical disability, early intervention involves providing medical services at an early age in areas such as physical therapy, occupational therapy and speech and language therapy (SaLT). Often these services are provided in your home or are centre based, such as a community health centre.
Education, Health and Care Plan (EHCP)
An EHCP is for children and young people aged up to 25 who need more support than is available through special educational needs support. EHC plans identify educational, health and social needs and set out the additional support to meet those needs. You can ask your local authority to carry out an assessment if you think your child needs an EHC plan. A request can also be made by anyone else who thinks an assessment may be necessary, including doctors, health visitors, teachers, parents and family friends. If the decision is made to carry out an assessment you may be asked for:
The local authority will tell you within 16 weeks whether an EHC plan is going to be made for your child. In Wales, Individual Development Plans (IDP’S) have taken the place of statements. Scotland has Co-ordinated Support Plans (CSP’s). For further information contact your Local Education Authority.
Electroencephalogram (EEG)
Your child may be referred for this to measure their brain pattern if seizures are suspected, or seizure activity changes. Wires are attached to the head and a tracing of electrical activity is produced. You may be asked for this to be done whilst your child is awake or asleep or both.
Environment
Generally an environment is either a physical structure or an emotional state or one which causes emotional stimulus.
-Physical: this can be a room such as a doctor’s surgery, a living room, and a classroom. It may also be an open area such as a car park, a school playground or even a sports stadium.
-Emotional: this can be the presence of a person or people that affects a person’s emotional stimulus in either a positive or negative way. If a person is in the company of another person or a group that they do not want to be with, then they will want to get away. If they can’t then this impacts on them in a negative way. Therefore the environment is negative. It can be something that happens that affects a person’s emotional stimulus. For example hearing a specific song can be good or it can be bad, depending on the feelings that it generates in the person who is hearing it. They may have fond memories associated with the song, which makes them glad to hear it, so the environment is positive.
Guardian/Guardianship
A guardian is appointed when an adult with an intellectual disability is unable to manage their affairs in one or all of the areas of accommodation, medical or finance. The Guardian may be a family member or a long-term friend. The appointment of a Guardian does not usually occur in the case of children unless their parents are not the primary caregiver. Guardianship is the process that a Guardian goes through in making their decisions.
Individual Plans
IP – Individual Plan used by service providers in accommodation, day program, supported employment and case management areas
IEP – Individual Education Plan used by schools
Respite
Respite is used to enable the primary caregivers (parents, foster carer, guardian or the person/s who have the main responsibility of providing care and support to a person with a disability) to have a break and vice versa. This may be for a short period so that they can go and do the family shopping or overnight, for a couple of days or for periods generally up to a week.
Speech and Language Therapist (SaLT)
A person who will work with your AS individual to improve their communication skills, ideally through a multi-modal approach (using every tool available).
Service Provider
A person or organisation that provides a service, covered by a funding agreement with the local government.
Transition
The time between moving from the provision of services for a child to the provision of services for an adult. In the UK, this usually happens when the child turns 18, although preparation for it may begin sometime before this.
For young AS children, mainstream nurseries are generally very good. At the pre-school age there is little gap between a child with AS and any other child, any additional needs are easily met and the existing equipment available in the nursery can be adapted.
Difficulties finding adequate childcare may arise later when your AS child starts school. Some special needs schools have after school clubs and holiday clubs, many don’t, or only offer short days. Some nannies or childminders will take on children with disabilities, but you will almost certainly need to be prepared to pay more for the extra responsibilities, or one to one childcare. For more information, see:
www.workingfamilies.org.uk/articles/choosing-childcare-for-disabled-children
www.gov.uk/help-for-disabled-child/childcare
Larger employers may have special policies in place for employees who are carers, such as offering flexible working patterns, the option to work from home where reasonable or take periods of unpaid or reduced paid leave to fit in medical appointments or unanticipated stays in hospital.
If you earn less than a certain amount per week you may be entitled to Carer’s allowance. This is not dependant on household income. See www.carersuk.org/ for more information and eligibility criteria.
This largely depends on where you live and what your council has to offer. In the first place, contact your local council and ask for an assessment with a social worker. Social Workers usually visit you at home, both with and without your children, to assess your level of need. They then prepare a detailed report which is submitted to a panel for review. You will be informed in writing of the level of care package they are able to provide and this will reviewed at regular periods, eg annually. If you need extra care in an emergency, if for example the main carer becomes ill, you can request an urgent review.
The first respite option is usually to be offered a certain number of hours a week or a month as Direct Payments. This means you can employ someone to look after your child for that number of hours. They can be used quite flexibly, for example for day trips or equipment, although you will need to check with the provider what is allowed and what isn’t before using the money.
Overnight respite is usually offered once your child is 7 or 8. In some regions, this may be your child spending a night in a purpose built unit with other young people with disabilities, or staying overnight with a family. Or it may mean someone coming to your house to stay overnight with your AS individual, either with you there or not.
In some regions, there are specialist charities who can provide free or very cheap childminding services.
Whilst the majority of children with Angelman Syndrome do go to specialist schools, it is possible, with the right support, for your child to go fully to a mainstream school or to do split placements. There are pros and cons for both. Attending a local mainstream school may mean greater inclusion in the community as a whole, particularly in more isolated regions. Inclusion leads to more awareness of disabilities in the wider community. Special schools tend to be a “one stop shop” for all care needs, often having their own school nurse trained in the needs of all the children in the school, access to their own Speech and language therapist, occupational therapist and physiotherapist, wheelchair clinics and orthotics clinics. They are more likely to have ready access to special equipment such as adapted chairs and tables or standing frames.
Visit the schools in your area to determine what might be the best solution for your child and your family. Will the mainstream school support communication, hygiene and personal care needs and medical needs? Will your child be included in the whole class or secluded with a 1:1? Will the 1:1 be solely for their benefit or are they likely to be absorbed by the needs of the class as whole? How far away is the nearest special needs school? Can you manage the logistics if you have other children at other schools? Does the school have a communication policy?
See also the page on sleep. By far, one of the things parents, carers and the wider family struggle with the most is the issue of sleep, or lack of it. Unfortunately, the bottom line is that most (although not all) individuals with AS just need less sleep than their typical peers and there isn’t a single quick fix to this. What works for one family may not for another. Ultimately, you will come up with your own strategies, but some things to consider are listed here:
a. Good sleep hygiene – keep to regular bedtime routines; keep lights in the evening/at night to a minimum; have some calm quiet time before bed; have a dark bedroom, remove sources of light/noise. During the night, when your individual with AS wakes up, try to keep interaction to a minimum – carry out the care necessary without engaging in conversation, try to keep lights off or very low.
b. Environment – keep the room around 18-20°C (65-70F) and draft free. Decorate the room in calm, soothing colours.
c. Bath salts and lotions – a warm bath in the evening can help to relax and soothe. Some people find that addition of Epsom salts to a bath can help improve sleep. Some people find that applying soothing ‘night time’ cream can also help.
d. Sleep sheets, weighted blankets and bed tents – individuals with AS, particularly younger children, struggle to control their bodies. Close fitting sheets tightly tucked in, or weighted blankets which provide the individual with a sensory feedback my help with this. Bed tents also work for some families. A more expensive option is a fully enclosed bed or specially built room within a bedroom (eg SafeSpace). Gro-bag sleeping bags now come in all sizes up to adult. Ask your OT for advice on weighted blankets or more specialist beds.
e. Taking turns – share the night time care as much as possible. You could take alternate nights to be the one “on duty”, or swap half way through the night.
f. Melatonin – can be provided by your GP on prescription. Melatonin is a hormone and the amount that each person makes naturally is different. This makes it very hard for anyone to determine the correct dose for a particular individual. Hormones work by a feedback loop mechanism, which means that if you suddenly introduce too much of that hormone into the body, the body will recognise that it has too much and try to regulate the levels, causing worse sleep problems that you had initially. The effective dose for the person with AS may therefore be a lot less than what is prescribed and may take a few days to get right. It works more effectively if it is given in conditions of low light (eg dusk, or a darkened room) in a non-stimulating environment between 15 minutes and two hours before bedtime (again, this varies widely between individuals). Discuss dosing and timing strategies with your GP.
Melatonin may not work for every person with AS and it will not keep them asleep, so you may find that they still wake during the night, but probably less often and for shorter periods of time.
For most people, the chances of having another baby with AS are the same as any other person – approx. 1:15,000 – 1:20,000.
If your child has the Ube3a mutation form of Angelman syndrome, there is a much higher chance that you will have another child with AS – approx. 1 in 2.
It is important, therefore, to know what type of AS your child has. When your child is diagnosed, you should be offered an appointment with a geneticist who can offer you advice. If this is not offered and you are considering more children, ask your GP for a genetics referral.
If you are already pregnant when you receive an AS diagnosis for your child, discuss pre-natal testing with your GP, there are several options depending on the stage of your pregnancy. Routine testing for AS is not offered as standard as it is so rare, but it will be offered if you already have a child with AS. You can choose not to have any testing.
Most individuals with Angelman syndrome will need some specialist equipment, some more than others. Only time will tell what, if anything, your child will need and adopting a wait and see attitude, rather than trying to plan immediately after diagnosis for every future possibility for your child, will save you a lot of time, worry and expense.
There are a vast array of products available to help you and the person with Angelman Syndrome. From the basics of specially designed forks and spoons, to high tech wheelchairs, hoists and safe, secure beds. Monitors to measure oxygen levels, observe seizure activity. Communication aids, special toothbrushes, personal care equipment. Modifications to your home, such as ramp access to the front door, wider doorways for wheelchair accessibility, a driveway for safe access to a car. Double bannisters on the stairs, or a through-floor lift. An extension to house a downstairs bedroom and/or a wetroom. The list goes on and new products and technologies to enable and assist people with disabilities of all kinds are arriving on the marketplace faster than ever.
The AngelmanUK family conference every two years has a small exhibition of some of the toys and equipment available and representatives from the companies that make them or sell them are available to answer questions and make suggestions.
Throughout the year, there are a series of exhibitions at various locations around the country displaying a wide array of specialist equipment and advice on a wide range of subjects. They are free and children are welcome. “KIDZ…“
Unfortunately, none of the specialist equipment comes cheap as it takes years to develop products and the demand may never be high. There are several ways you can fund specific items or projects:
a. Gifts for people with AS, eg for birthdays or Christmas, can be difficult. Ask instead for monetary donations towards a specific item, or even, if it’s not too much and you’re comfortable with it, for the item itself.
b. Ebay/second hand websites. There are many second hand buying/selling/swap websites and social media groups available. Second hand, or reconditioned equipment can be excellent quality, particularly for expensive items such as iPads.
(NB Please make sure to use reputable web sites/sellers. There are some that are better than others and some that should be avoided at all costs. Ask for an opinion of a site in closed groups on social media.)
c. Council funding
Your local council may have an occupational therapist on its staff who will come and assess your home for any adaptations that may be necessary. From simple ones, like building a ramp to your front door, to large projects such as money towards refurbishing a bathroom to create a wetroom, etc. A disabled facilities grant will not be means tested if the disabled person it will benefit is under 18. Please see www.gov.uk/disabled-facilities-grants/ for more information.
If you are funding your own building project to benefit the person with Angelman, ask the council OT to write a letter to the planning office on your behalf to waive the planning fees: www.legislation.gov.uk/uksi/2012/2920/regulation/4/made
d. Applying for grants
There are lots of different types of grants that you, or your social worker can apply for on your behalf. Some of the main ones are Newlife www.newlifecharity.co.uk/, Family Fund www.familyfund.org.uk/, Variety www.variety.org.uk/, Roald Dahl Marvellous Charity www.roalddahl.com/charity/family-grants, or the Caudwell Foundation www.caudwellchildren.com/. A really useful website is: www.disability-grants.org. There are lots of different types of grants listed here, by region or grant type (eg adult or child, holiday, respite or home adaptations, etc).
Whether you are writing your own grant application, or asking someone to do it for you, there are a few things to bear in mind first. Although there are lots of grants available, there are many more people seeking funding than there is money to go around. Approximately 10% of all grant applications received are funded. It is therefore really important that you make a good application and it will require a bit of time to do it. Here are some things to think about before applying:
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