Angelman syndrome was first described in 1965 by Harry Angelman, a paediatric doctor who worked in the north of England.  Dr. Angelman had under his care three children who all had a similar pattern of developmental problems, seizures, and characteristic behaviour.  They were all very happy children with jerky movements and a tendency to flap their hands when excited.  They also had very similar facial features.  Harry Angelman described these children in a report in one of the medical journals.  His very first paper was called ďPuppet ChildrenĒ but the condition has now better known as Angelman Syndrome.  At that time, despite many investigations, Harry Angelman could not find the cause of the condition. 

Over the next 20 years very few other people with Angelman syndrome were reported and the condition was thought to be very rare.  A chromosome abnormality was suspected to be the cause of AS, but initially all the chromosomes improved, it was noticed for the first time that some individuals with Angelman syndrome had a tiny piece of chromosome 15 missing.  Once a diagnostic test for Angelman syndrome was available, people began to test for it more and many more people were found to have the condition.  There is still some dispute about the incidence of Angelman syndrome.  The frequency of the condition in the UK is about 1 in 40.000, but groups in other countries have suggested that it is actually more common than this.  A huge amount of research has been carried out into the problems and causes of Angelman syndrome over the last ten years.  Previous talks have discussed the clinical features and genetics of Angelman syndrome and this presentation concentrates on the natural history of Angelman syndrome and the way the condition evolves from infancy to adulthood.  The talk will be based on observations of children from the UK followed up over the last 15 years and on results of a study of Angelman syndrome in older people which was carried out in association with ASSERT, the Angelman syndrome group in the UK. 

All of us change as we grow up and people with Angelman syndrome are no exception.  First of all I will talk about physical growth and general health; On the whole, growth in Angelman syndrome is good and most adults will end up with height and weight within the normal range.  They can also grow very strong!.  Overall, it seems that AS people with deletions are on average a little shorter than the other groups, but this difference is not very great.  one of the significant problems is that some people with AS will put on weight as the get older.  This may be partly due to the fact that they are not as active, but it has also been suggested that AS people may be more genetically predisposed to put on weight, possibly because genes on chromosome 15 are involved in weight control.  The full reasons are not clear, but it is useful to be aware of this possibility.  it is a good idea, therefore, to encourage good eating habits in AS children from early on, and to encourage adults, to be active.  This is sometimes no easy!  The head size in AS usually starts off normal at birth, but does not grow as well as expected in childhood.  The majority of adults with AS have a small head in comparison to their height and weight. 

Many parents are concerned about how the appearance of their AS child will change physically as they grow up.  The typical Angelman face in childhood has some characteristic, but quite subtle facial features.  The mouth is often wide and smiling and is held open.  The chin is slightly pointed and the eyes are deep set.  The face is usually quite rounded, as one would expect for a child.  As all children grow, the facial bones grow longer and the shape of the face changes.  The same is true in AS.  The face gets longer so the chin becomes more prominent.  The eyes appear more deep-set.  The mouth is still often held open and is wide and smiling. 

Individuals with AS usually go through a normal puberty.  Sometimes this can be a little later than normal.  Women menstruate regularly and although not many individuals seem to display overt sexual attraction for the opposite sex, some do form friendships on a more platonic basis.  Masturbation is common in both males and females.  Itís often something parents worry about, or feel is inappropriate if itís done in public.  In some cases and with persistent reminders itís possible to persuade the AS people concerned to do this in private.  Both men and women with AS are likely to be fertile.  If, in theory a woman with AS had a child then there is a 50% chance of the child having AS.  if a male with AS fathered a child, then that child would be at risk of Prader-Willi  syndrome, not Angelman syndrome. 

One of the main physical changes which many occur is the development of contractures of the limbs, where lack of the movement of the joints lead to them being held in a permanently bent position).  This happens because the muscle tone in AS is abnormal, and the limbs are always held a little stiffly.  Contractures can interfere with mobility, so itís very important to tray and stop these happening.  Regular physiotherapy may help, and exercise should be encouraged.  Gently putting the joints through their full range of movement every day, completely straightening them out is helpful.  If contractures do occur, then it may be necessary in some cases to have some surgical treatment.  Another typo of treatment for this problem is botox (botulinum toxin) injections, although there  have been no specific studies on the use of botox in AS as yet. 

The other physical problem which may arise is that of scoliosis or curvature of the spine.  About 10% of children with AS but this rises to over 40% in adulthood.  The time when if often gets worse is when children go though their adolescent growth spurt.  Sometimes this can be treated conservatively with physiotherapy and bracing but in other cases surgery must be carried out.  The timing of the surgery will vary in each individual child, and thorough discussion with the orthopaedic surgeon is recommended.  Although this is a big undertaking most people tolerate this well.  In the long term it improves mobility and quality of life. 

The epilepsy disorder associated with Angelman syndrome has an interesting natural history.  If often begins in the second year of life and is a big problem between the ages of 4 and 6.  After that it improves and many children become bit free and can reduce or stop medication.  Further follow-up into adulthood has shown, however, that seizures may return in some individuals in the twenties.  Treatment may need to be restarted at this time.  The  EEG in adulthood continues to show the typical changes associated with the syndrome. 

Most adults with AS will have a near normal life span if they have good general health.  Some have lived well into their seventies.  Life span is a bit shorter if there is a history of epilepsy, and in those who are less mobile.  Another common medical problem is that of reflux oesophagitis.  This can lead to a narrowing of the oesophagus if severe.  itís important to be on the look out for this in adults who refuse food or become distressed for no reason.  in most cases it can be treated with simple antacids. 

The characteristic behaviour of Angelman syndrome continues into adult life.  AS adults remain happy and sociable and often laugh at very small things.  In some ways this is good because they get on well with other people.  In other ways it can be a problem.  There is always the worry that affected people will be too trusting and will be sociable.  Angelman adults are usually very well-liked members of their community.  Occasionally there are some problems with aggression, and these are often linked in with frustration because of the problems with communication.  As adults continue to like water.  They also like other things such as watching TV and videos, flicking through magazines and photographs and eating!.  Activities to be encouraged include swimming, walking and dancing. 

Communication problems are one of the most significant features of Angelman syndrome because even with a lot of help and therapy Angelman children find it difficult to learn to speak.  This means that itís necessary to try other means of communication.  Non-verbal communication can be by gesture, by sign language or by pictures.  Some people with AS find it difficult to use a formal system and use only their own gestures.  Others are better at signing or using a picture exchange system.  No one method is best and itís good to link up with a good speech and language therapist who will try different methods to see what works best for a particular child.  Learning to communicate is very important as children and adults who canít communicate become very frustrated, and itís also a problem for those looking after them to know their needs.  Although communication skills should be worked on from childhood, in fact as children get older they are often better at learning how to communicate.  They can continue to learn new signs or symbols or can be taught to work with augmented communication device. 

People with AS continue lo learn skills into adulthood.  In fact, they can often learn better in some cases because they are not so hyperactive and have a better concentration span than in childhood.  Many of them will remain mobile, although they have to be encourage to walk.  Most will be able to feed themselves and about 50% of people will be toilet trained by day.  Nights are more of a problem with the majority still needing continence aids.  They will be able to help with bathing and dressing.  Angelman adults will always be dependent and need supervision to ensure that they are safe.  Many will however be able to do some jobs around the house and independence should be encouraged.  The majority of AS adults will be bale to make some choices, for instance about what they eat and what they wear.  Some young adults have had jobs which they have carried out with supervision e.g. delivering papers, watering gardens.  One young man even had a job in a demolition factory!.  One problem with work is that they soon get fed up and need encouragement to keep working.  The stubborn nature of AS individuals means that they will often only do things on their terms.  AS adults can have a good social life and can integrate well into their local communities if given the chance.  Activities for older AS individuals need to be appropriate for their age. 

Parents of older AS children and adults need to be looked after, too.  Itís hard to have a child who still needs a babysitter even at 18 or older.  Like any child who grows up older AS children need some independence and thought must be given early to the best place for them to live.  This will vary depending on family circumstances and geographical area. 

In summary, the signs and symptoms of Angelman syndrome evolve over time.  Some things which are a big problem to parents in the early years e.g. sleep disorder and hyperactivity improve over time and on the whole the seizure disorder improves.  The majority of parents of older AS children would agree that it is easier to care for an older child or young adult.  Some new problems appear over time such as decreased mobility and scoliosis.  The fact that some AS adults are big and strong also poses an extra management problem.  Although itís not possible to prevent the natural progression of the condition, if one is aware of the problems which might occur in the future some of them ca be recognised earlier and minimised.  This knowledge will also help with planning for future, and itís useful for those will look after AS adults to know what is in store. 

Above all, we must remember that each AS patient is an individual ant their progress and problems will differ from those of others with AS.  There is some evidence to suggest that those with AS due to a deletion will have more problems than those in the other groups, but there is significant overlap between the groups and the differences between patient groups is small.  Most adults will be able to enjoy a good quality of life.  Others will have more problems, but this does not mean that their parents or carers have failed in some way.  The outlook for children with AS today as they grow towards adulthood is very much better that it was in Harry Angelmanís day. We can expect it to improve even more in future years as new therapies are developed and parents and professionals continue to share their knowledge of the condition.





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ŕltima modificaciůn: 25 de mayo de 2007