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FAQs
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…
Therapies
Currently, there is no cure available for Angelman Syndrome, although therapies and strategies exist to help with some of the effects of the syndrome. Health Care Therapists: Many health professionals may become involved in the care team of the person with AS. This is not the case for every person,…
Diagnosis
Diagnosis of Angelman Syndrome (AS) usually occurs somewhere between 9 months and 6 years, the current average is approx. 18 months. In most cases, tests are carried out due to missed developmental milestones, although early onset of seizures or other medical complications can lead to an earlier diagnosis. Consistent (100%…
Variants
Everyone has two copies of the Ube3a gene, one from their mother and one from their father. In the brain, due to a biological quirk called imprinting, we only use the Ube3a gene we inherit from our mother – the paternal copy is ‘switched off’. Deletion (Del +) The majority of individuals with Angelman…
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Research
Research into Angelman Syndrome has been gradually advancing since Harry Angelman first characterised AS. Research interests can be split into two main areas: Research aiming to study the characteristics of AS, such as poor speech, mobility problems, behaviours that are socially hard to manage. Research looking at the genetics and…
Support
To provide better support for families and carers we have allocated trustees or representatives to different regions around the country. As our national conference happens only every two years each region will endeavour to have regular meetings together so that you can get to know people in your locality. Because…
About
Welcome to AngelmanUK. We are a volunteer-led registered charity based in the UK. We currently have no paid staff and we are run by a dedicated team of trustees who are all parents or siblings of someone with Angelman syndrome. Our primary aims are: Support We help support people with…
What is Angelman Syndrome?
Angelman Syndrome (AS) is a rare neurological disorder affecting around 1:20,000 births. Characteristic features include delayed development, severe learning difficulties, little or no speech and issues with movement and balance. Although those affected have a normal life expectancy, they will require support throughout their lives. As it is rare, most…
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