Angelman Syndrome is a rare genetic condition first identified in the mid 1960's
by a British doctor called Harry Angelman, from whom it also gained its name.
Dr Angelman had noticed similarities between a small number of previously undiagnosed
children that seemed to indicate that they had a common problem. He was inspired
to write an article after seeing a painting in the Castelvecchio museum in Verona,
Italy entitled "A Boy with a Puppet" which gave him the idea of writing
a paper titled "Puppet Children". The syndrome originally called the 'Happy
Puppet Syndrome' because of the characteristic happy demeanour and stiff jerky
movements of the children was renamed Angelman Syndrome in 1982 Although at first
little was known and indeed few other cases identified, in recent years much more
has been learned. During the 1980's advances in genetic medicine made it possible
to diagnose increasing numbers of cases and also to start to identify the cause.
In simple terms, it is a chromosome disorder that causes severe learning difficulties.
Since the condition was first identified in 1965 to date only about 350 people (mostly
children and young adults) have been diagnosed in the UK. This number is increasing
due to the improvement and ease of Genetic testing.
It is now known that irregularities in Chromosome 15 are responsible for A.S. However
it is also known that there are several different irregularities that can occur
in Chromosome 15, all of which result in a diagnosis of A.S
A.S is not a disease, it is a neurological disorder that causes severe learning
difficulties, and although those affected have a normal life expectancy, they will
require looking after throughout their lives.
It's possible to go from knowing nothing about AS, to being overwhelmed by the
information now available to families of those newly diagnosed with AS. It can be
very difficult to understand all there is to know about A.S very quickly, you have
will lots of questions on a topic you had never heard of before.
Most A.S. children are diagnosed between the ages of 3 and 7 when the characteristic
physical and behavioural features become evident.
The characteristics used for diagnostic criteria are listed below:
- Developmental marked delay (Please note the following reference book "Smiths
Recognisable Patterns of Human Malformation", Elsevier Saunders) quotes absent
speech or less than 6 words in a 100% of cases but points out that the vast majority
of children communicate to a variable degree in other ways such as sign language.
- Speech impairment, no(what percentage do not talk? Maybe use the word none rather
than no) or minimal use of words, receptive and non-verbal communication skills
higher than verbal ones
- Movement or balance disorder, usually ataxia of gait and/or tremulous (tremour of
movement) movement of limbs
- Behavioural uniqueness: any combination of frequent laughter/smiling; apparent happy
demeanour; easily excitable personality, often with hand flapping movements; hypermotoric
behaviour; short attention span Frequent (more than 80%)
- Delayed, disproportionate growth in head circumference, usually resulting in microcephaly
(absolute or relative) by age 2
- Seizures, onset usually <3 years of age
- Abnormal EEG, characteristic pattern with large amplitude slow-spike waves (usually
2-3/s) facilitated by eye closure Associated (20-80%)
- Flat occiput (bone at the back of the skull)
- Occipital groove
- Protruding tongue
- Tongue thrusting; suck/swallowing disorders
- Feeding problems during infancy
- Prognathia (protruding lower jaw)
- Wide mouth, wide-spaced teeth
- Frequent drooling
- Excessive chewing/mouthing behaviours
- Hypopigmented skin, light hair and eye colour (compared to family), seen only in
- Hyperactive lower limb deep tendon reflexes
- Uplifted, flexed arm position especially during ambulation
- Increased sensitivity to heat
- Sleep disturbance
- Attraction to/fascination with water
- Angelman Syndrome Support Education & Research Trust
Information taken from various websites about Angelmans Syndrome