What is Angelman Syndrome ?
Angelman syndrome is a genetic condition that results in developmental problems and neurological disabilities such as walking and balance problems, speech difficulties and in certain instances, even seizures. Episodes of laughter and everyday smiles are generally regular in individuals affected by Angelman syndrome. Most affected people have excitable and happy personalities.
Parents will generally detect the presence of Angelman syndrome when the infant is about six to 12 months old and experiences delayed development. Convulsions generally tend to commence when the affected child is about two to three years old.
Individuals affected by Angelman syndrome generally live the usual life span. However, as they grow older, they tend to become less edgy. The other symptoms of the condition prevail. The treatment for Angelman syndrome is aimed at alleviating the developmental and medical problems.
Angelman Syndrome symptoms
Some of the distinct signs and symptoms of Angelman syndrome are as follows:
- Delays in achieving developmental milestones such as sitting up, crawling, or babbling by the age of six to twelve months
- Intellectual development is also delayed
- Ataxia or incapability to move, walk or balance correctly
- Minimal or absent speech
- The legs and arms may experience tremors or trembling
- The personality is excitable, happy
- Regular smiling and bursts of laughter
Some of the other symptoms elicited by individuals with Angelman syndrome are listed below:
- Seizures or fits may generally tend to begin by the age of two or three years
- The back of the head is flattened. The size of head is small
- The eyes may be crossed
- Children with Angelman syndrome may have a tendency to walk with their hands up in the air
- Thrusting of the tongue
- The eyes, skin and hair may experience light pigmentation
- The movements may be stiff or erratic
Some of the complications that may arise due to Angelman syndrome include the following:
- A few babies with Angelman syndrome may experience feeding problems during the initial few months due to lack of coordination abilities between swallowing and sucking.
- Children with Angelman syndrome are at increased risk to develop abnormalities of the spine curvature such as scoliosis
- A majority of the affected children may experience hyperactivity, which causes them to rapidly move from one activity to some other. The capacity to concentrate on a particular thing or activity may also be minimal. Children with Angelman syndrome have a tendency to keep toys or their hands in their mouths. Hyperactivity tends to disappear with the passage of time.
- They may have excessive appetite which cause them to eat excessively, increasing the risk to developing obesity
- Many children with Angelman syndrome may experience sleep disorders wherein such as insomnia or the need to sleep less. Also, they may have unusual patterns of sleeping and waking up. Sleep disorder may go away on their own in some affected individuals, while other may have to take medications or therapy for resolution.
Causes of Angelman Syndrome
- Angelman syndrome is a genetic condition that is generally caused due to mutations of changes in a gene known as ubiquitin-protein ligase E3A gene or UBE3A gene. This gene is present on chromosome 15
- Genes are inherited in pairs from each of the parents. Both the pairs of each gene are generally active. In a few genes, only one copy of the gene is active. It is known that only that copy of the UBE3A gene that is inherited from the mother is active in the brain. When this maternal copy of the gene is altered, missing or damaged then it results in the characteristic developmental and neurological problems associated with Angelman syndrome.
- In a few cases, Angelman syndrome may be caused when two paternal copies of UBE3A gene are inherited, instead of the active maternal copy.
- The exact causes of the mutations or changes in the gene are not known. A majority of the individuals affected by Angelman syndrome do not have a family history of the disorder. However, some cases of Angelman syndrome being passed on from an affected parent to the child have also been reported. Therefore, a child is at increased risk to developing Angelman syndrome, if there is a family history of the condition.
Angelman Syndrome treatment
There is no cure for Angelman syndrome. The treatment is focused at reducing the effects of the associated symptoms and in managing and preventing the complications.
- Physical therapy is recommended to correct the movement difficulties and aid in walking
- Anti-seizure medications may be prescribed to control the fits and convulsions
- Behavioral therapy is useful in overcoming various problems such as low attention span, hyperactivity, etc.
- Communication therapy may be helpful in developing non-verbal forms of speech and communication for the children with Angelman syndrome.
- Joining a support group may help the parents of a child with Angelman syndrome, deal with the emotional and psychological problems that they may experience.
Angelman Syndrome life expectancy
The life span of an individual with Angelman Syndrome is about average. Complications are seen in adult who tend to become obese, especially females and scoliosis getting worse.
Most adults are able to eat with a knife or spoon and fork and can learn to perform simple household tasks. General health is fairly good and life-span near average. Particular problems which have arisen in adults are a tendency to obesity (more in females), and worsening of scolisosis. if it is present. The affectionate nature which is also a positive aspect in the younger children may also persist into adult life where it can pose a problem socially, but this problem is not insurmounta
Angelman Syndrome in Colin Farell’s son
Hollywood actor Colin Farell said that his son James Padriag Farell has Angelman Syndrome. The boy was born in 2003 to wife US model Kim Bordenave. Other famous people with Angelman syndrome are Ian Ranking, the author, professional basketball player Dave Henderson and Peter McDuffe (professional hockey player) who has son with Angelman Syndrome.
Angelman Syndrome pictures