Angelmans Syndrome

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:
Consistent (100%)

  • 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
  • Strabismus
  • Hypopigmented skin, light hair and eye colour (compared to family), seen only in deletion cases
  • 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