Angelman Syndrome is a genetic disorder that causes severe developmental delays in children. The syndrome was first identified by physician Harry Angelman in 1965 when he performed a study on a group of young children who displayed similar characteristics to one another. The children were reported as having flat heads, uncontrollable bouts of laughter, protruding tongues, and jerky or interrupted movements.
Symptoms Of Angelman Syndrome
The symptoms of Angelman Syndrome appear early in life. While babies born with the syndrome appear normal at birth, signs of the syndrome begin to manifest as early as one month. The first signs of the syndrome are normally centered on feeding issues and other similar problems. After a few months, parents may begin to notice that their child is not meeting developmental milestones, and by the time the child is one, it is very evident that something is wrong. It is also very common for children with Angelman Syndrome to develop seizures within the first few years of life.
Symptoms of the syndrome range in intensity and vary from child to child. Following is a brief list of some of the symptoms that may be present in Angelman Syndrome:
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Developmental delays
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Seizures appearing between two and three years of age
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Pronounced speech impairment
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Hyperactivity
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Sleep disorders
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Small head size
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Balance and motor coordination disorders
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Severe functional deficits
Angelman Syndrome Causes
Angelman Syndrome is caused by the absence of the UBE3A gene that is inherited from the mother. In some cases, the gene may be present but it is not functional. Without the gene, children fail to develop normally or reach developmental milestones.
Curing And Treating Angelman Syndrome
While there is no cure or treatment that addresses Angelman Syndrome directly, several therapy options may be adopted to help your child reach his full potential. Physical therapy, communication therapy, and behavioral therapies are all extremely important to help your child develop the maximum amount of proficiency in these areas. Seizure medications may also be prescribed as well as medications to address any other symptoms or health issues.
Since the range of symptoms affecting those with Angelman Syndrome is great, the prognosis for those with the syndrome varies as well. Most will live a full life span. The quality of life, though, is dependent on the severity of the syndrome and early intervention. In almost all cases of Angelman Syndrome severe developmental delays, problems with speech, and problems with motor skills are evident. Therapy can help counteract these deficits to a certain degree and are beneficial throughout life as Angelman Syndrome is a non regressive disease. This means that the symptoms of the syndrome do not get worse as time goes by.
Even though there are not a lot of treatment options that address neurological and genetic disorders, research continues in the hopes of uncovering more treatment options for Angelman Syndrome and similar diseases. It is hoped that research will reveal a way to treat and ultimately prevent these syndromes from occurring.
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