What Is Angelman Syndrome?

Have you heard of Angelman syndrome? Although this is a rare medical condition, it affects the lives of all the people around the child experiencing this illness.

What Is Angelman Syndrome?

Angelman`s syndrome represents a rare genetic illness that is characterized by severe speech and mental retardation, seizures, paroxysmal laughter, characteristic facies, alaxic movements and microcephaly. This genetic condition causes neurological issues and developmental disabilities, like difficulties in walking, feeling and balancing.

Angelman`s syndrome (AS) is also known as Happy-Puppet syndrome.

The parent of a child who experiences this syndrome might not notice the signs. AS isn`t generally detected until parents notice developmental delays when the child reaches 9 – 12 months. The very first crisis may occur when the child has 2 or 3 years.

Why Is Angelman Syndrome Called Happy Puppet Syndrome?

Harry Angelman, an English doctor from 1965, discovered 3 cases of children who had similar behavioral and physical traits – seizures, excessive laughter, difficult walking and speechlessness. After a short visit to Italy, where he noticed a painting at the Castelvecchio Museum known as “A boy with a puppet” – this painting gave him the idea of writing an article. The article was named Puppet Children and outlined the 3 cases found by the physician. Later, these particular events were united under Angelman`s syndrome.

What Causes Angelman Syndrome?

The factor that triggers this syndrome is represented by an abnormality which occurs on chromosome 15 inherited from the mother`s side. Frequently, it`s a deliberation on the functional gene UBE3A. Scientists haven`t found any abnormal segment on the chromosome 15 from the mother. It seems that this mutation only appears during embryogenesis.

For a rather small percentage of cases, it was found this condition occurred because both chromosomes 15 were inherited from the father and none from the mother.

There`re also cases where it wasn`t noticed any change on the responsible gene, but there`s a possibility that the mutation is too low for the present level of medical technique.

Clinical Symptoms

Infants

The prenatal progression and morphometric parameters of patients who experience this syndrome at birth are generally within typically limits. Newborns with this medical condition might find it difficult to feed from the breast or bottle and exhibit muscle hypotonia. The illness is generally suspected when the child would start to walk because of the delay in reaching this particular stage and the language delay. Some babies experience a happy affective disposition with paroxysmal laughter and excessive chuckle. Fifty percent of them develop microcephaly up to 1 year of age. Strabismus may become rather obvious.

Young Children

Seizures may occur between 1 and 3 years, and can be absences, tonic-clinic, myoclonic seizures and minor seizures.

All development stages are delayed, so walking will be performed between 2.5 and 6 years, and is jerky and stiffed. Ten percent of children never walk. Lack of language is very severe. The usage of the right words in a meaningful way is very rare. The receptive language is often more developed than expressive language.

Older Children & Adults

They`re able to communicate by gestures, communication cards or displaying objects.

The installation of puberty happens physiologically, and both, women or men, are able to procreate. Fertility seems normal – in 1999, there was a case of transmission of fetal deletion from an affected mother.

The degree of severity of the signs associate with this condition is different from patient to patient, and is correlated with the causal molecular mechanism. Life evolves normally and reproduction is possible. Logotherapy and motor therapy improve prognosis quite significantly. Some of the features of this illness may diminish in frequency and intensity (hyperreactivity, convulsions).

How Common Is Angelman Syndrome in the US?

This syndrome affects women and men in equal numbers. This condition`s prevalence is estimated to be around 1 out of 12,000 – 20,000 people. Still, lots of cases might slip a diagnosis and this makes it rather difficult to make a determination regarding the syndrome`s prevalence in relation with the general population.

How Do Doctors Test for Angelman Syndrome?

The diagnosis of this syndrome is rarely made in its early stages because there are no relevant symptoms. The condition`s clinical picture is unequivocally highlighted from the 3 year of life.

The first hypothesis of the doctor takes place on the clinical examination, following by an EEG.

Genetic tests reveal either the suspicion that only the father was the one transmitting chromosome 15 in double sample, or the deliberation of a segment on the UBE3A functional gene.

Research & Studies

Scientists at Brown University have found a possible mechanism that is at the basis of this syndrome`s manifestations – a poor neuronal function. The researchers have demonstrated that a synthesis compound, known as CN 2097, acts by restoring the poor neuronal function. The coordinator of the study, professor Marshall, said that it`s still early to talk about any clinical therapy based on these particular results, because there are no clear effects proven of this product on cognitive or behavioral processes.

Can Angelman Syndrome Treated?

An early diagnosis of AS along with the application of individualized therapeutic measures might improve life quality quite a lot.

Because there`s no way to repair the damaged chromosome, there`s no cure for this syndrome. The treatment is focused on solving developmental issues which involves this condition. Most likely, a team of specialists will get involved in this case.

Depending on the child`s signs and symptoms, the treatment may include:

Antiepileptic Medication

Antiepileptic drugs might be required to control crises triggered by this syndrome.

Physical Therapy

Children who experience this illness can learn to walk better and manage to overcome any movement issues with physical therapy.

Communication Therapy

Although people with this syndrome don`t really develop verbal language any further than simple sentences, communication therapy can prove to be helpful. Nonverbal language skills may develop through image communication and sign language.

Behavioral Therapy

This particular therapy can help children, who experience this medical condition, overcome their inability to focus their attention and hyperactivity, which can help bring a developmental progress. Although the developmental level of these people varies, lots of them are able to develop relationships with family and friends.

Prevention

In some cases, this syndrome can be transmitted from the sick parent to the child through deficient genes. People who have a family history involving this condition or who already have a child with Angelman syndrome, can talk with a family doctor or geneticist to diagnose some rare genetic diseases in order to help them plan a future pregnancy.

For parents, the news that their little one experiences this syndrome can prove to be rather difficult. They may be concerned because they don`t know what to expect or they don`t know how to take care for a child with developmental disabilities and medical issues.

• Working with the team – The therapists and physicians involved in your child`s care are able to help you make essential decisions regarding your child`s care and treatment. This type of specialists can help identify as well as evaluate other necessary resources.
• Support group – Each family and each child with this syndrome are always different. But getting in contact with other families that deal with the same issues might help everyone not feel alone when fighting such huge problems. Information regarding support groups can be obtained from your physician.