What is Angelman syndrome?
Angelman syndrome has been classified as a disorder which involves the affectations in the neurons and the genes of a person. It has been found that the occurrence of this condition is one in every 15,000 live births. Since it causes delays in the developmental and neurological aspect of a child, it is often mistaken as the other neurologic and psychological problems like autism and cerebral palsy.
This condition was unraveled by a physician named Harry Angelman. He was puzzled by the children, who appear to be normal during and after birth, but by the 6th month of life, the developmental delays already become very remarkable and they manifest jerky movements, bouts of laughter, flat heads, as well as protruding tongues.
Angelman syndrome Symptoms
Since it is a neuro-genetic disorder, is characterized by problems that have been connected with brain dysfunction. The following signs and symptoms are only among those recognized during clinical studies and researches:
Seizures
This occurs in children who have Angelman syndrome when they are just about two to three years of age. A seizure occurs due to the fact that the brain cells and neurons become agitated and results to an electrical storm which means that the connections in the brain system are not in their proper functional ability. A seizure is characterized by uncontrolled body jerking because the electrical surge in the brain sends out a message to every muscle in the body that it has to contract.
Speech impairment
This delay is often associated with the improper nerve impulse functioning of the brain, where the cognitive aspects are formed and trained in order for a human being to learn how to speak.
Hyperactivity
This is the result of the children inflicted with Angelman syndrome’s inability to speak, they try to look for other means to communicate.
Sleep disorders
Their sleeping patterns are also affected by their neurologic functioning.
Movement and balance disorders
Small head size
Angelman syndrome Causes
Angelman syndrome has been researched to be caused by the failure in the genetic composition of a human particularly in the chromosome 15 region. At present, it has also been revealed that there have been other possible causes of this syndrome which include single gene mutation wherein although the chromosome pair is complete the problem appears on the pattern of imprinting, uni parental disomy, as well as translocation.
Angelman syndrome Pictures
Picture source : peds.ufl.edu
Angelman syndrome Diagnosis
Angelman syndrome is often left undiagnosed unless an expert in the neuro-genetic problems gets to assess the child. The following are some of the important aspects used in diagnosing the said syndrome:
- Assessment of the child’s developmental milestones to check if he/ she have been delayed especially in the part of speech. The developmental milestone is a set of tasks or abilities that gauge the maturity of a child in terms of their motor and cognitive functioning.
- Assessment on the motor functioning of the child. This part aims to check if the child elicits any abnormal movements like jerky limb movements, and stiff-legged gait.
- Assessment of the face because in most cases (although not all), children who have Angelman syndrome have very distinctive facial features just like the patients diagnosed of Down Syndrome who also have their distinctive facial quality.
- History of seizures couples by abnormal EEG readings.
- Detection of the inactivity of chromosome 15.
Angelman syndrome Treatment
Currently, there is no known cure or medical treatment to this kind of disorder. Just like the other known neurological and psychological disorders, a good support system is the best management that can be given to them because they need it more than anything especially because of their functional inabilities and their inability to speak and reach out to the world.
In addition, proper management for the symptoms is also very essential, especially the seizures which can be decreased with the help of anti-convulsing drugs as prescribed by the patient’s attending physician.
Angelman syndrome Life expectancy
Although there maybe cognitive and developmental delays, it has been found that individuals who are afflicted by Angelman syndrome have a life span like normal people. Their life expectancy is not shortened unlike in other neuro-genetic abnormalities. In addition, is it very important that interventions, as well as therapies should be introduced early on to help improve the functioning of the individual.
Angelman syndrome Foundation
At present, there are two known foundations who are involved in the Angelman syndrome; the Angelman Syndrome Foundation and the Arc of theUnited States. The former is a foundation which was formed in order to help increase the awareness of the public about this rare syndrome that can afflict anyone. Furthermore, this institution has helped fund various researches in search for a cure for this neuro-genetic problem. The latter is an institution that aims to help all people who have or who know someone who is afflicted any type of intellectual and developmental disability; from Down syndrome, to autism, to Fragile X, as well as to Angelman syndrome. They are currently formed by 140,000 members nationwide who all have the same concerns and thoughts about the above stated problems.
These organizations are widely open to all individuals, whether you are afflicted by the disease, or you have a family member suffering from it, or if you just want to share an extra hand.
Famous people with Angelman syndrome
The sons of the following famous personalities have been diagnosed with Angelman syndrome: Collin Farrell a Hollywood actor, Ian Rankin an author, Dave Henderson a professional baseball player, and Peter McDuffe a professional hockey player.
Angelman syndrome Statistics
In theUnited States, statistics shows that one out of 15,000 children are born with AS. In other countries like Sweden and Denmark, a statistical study was also conducted and it was found that within eight years wherein there were 45,000 births recorded, the statistics in Sweden resulted to one in every 20,000 births, and in Denmark the statistics showed that there is an occurrence of AS in one out of 10,000 babies.
References:
ghr.nlm.nih.gov/condition/angelman-syndrome
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by on 14. Jun, 2011 in Syndromes
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