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Wednesday, February 7, 2018

Angelman syndrome

What is Angelman syndrome? +
This is a genetic disorder that will cause developmental disabilities, seizures and problems with the nervous and neurological system. If you are suffering from this disorder, you will exhibit a happy and excitable personality usually laughing and smiling repeatedly. The delayed developmental stages are between six and twelve months. The initial signs you will see if your child suffers from this disease are seizure beginning from around the age of two and three years of age. There is no cure for this disease though it is managed through treatment and medication to enable those suffering to lead a normal life.

What are the signs and symptoms of Angelman syndrome?
If your child is suffering from Angelman syndrome, you will notice the following signs and symptoms in them. Delays in development especially no crawling or trying to speak between the ages of six and 12 months. They may also lack intellectual ability, have difficulties walking, moving or balancing. They may also have signs of regular smiling and laughing accompanied by a very happy and excitable personality. Other symptoms you will notice in a person suffering from Angelman syndromes are; seizures at the ages of two and three years, jerky movements, a head that is small in size and is flattened at the back. You will notice them thrusting their tongues, light-colored hair, eyes and skin, they will also have unusual flapping of the hands and uplifted arms when walking.

What are the causes of Angelman syndrome?

Angelman syndrome is caused by different factors namely; it is mainly as a result of a genetic disorder on the genes found in chromosome15 known as the ubiquitin protein ligase gene.
When a child is born, they receive gene pairs from both parents. One half from the mother and another half from the father. Angelman syndrome is as a result of a missing gene from the mother. This gene is usually active in the brain. It could also be as a result of missing copies of genes from the father though it is a rare case.

Some complications resulting from Angelman disease.
This disease may cause complications to you if you are suffering from it. Infants with this disease will have problems with suckling and swallowing. This may result in feeding difficulties for both you and your child. A doctor may advise substitution of suckling with an infant feeding formula. This is with the aim of helping your baby to maintain weight development. A child with Angelman syndrome will be highly hyperactive. They lose concentration quickly as their attention span and concentration levels are very short. You will also notice your child develop a tendency of keeping their toys or hand in the mouth. It decreases as your child grows older. If you suffer from Angelman syndrome, you may experience inconsistency in sleep developing a sleep-wake, wake-sleep pattern. This, however, decreases with age put together with cognitive behavior therapy and medication.
Children who are older in age may experience large appetites that could generate development of Angelman syndrome. If you or someone you know is suffering from Angelman syndrome, you may develop an anomalous side to side curving of your spine over time.

How can you prevent Angelman syndrome?
Since this defect is caused by the transfer of defective genes from parents to children, if you have a child suffering from Angelman syndrome or you have a family history of Angelman syndrome, you should see your physician or a genetic specialist to help you in case you plan to have more children in future.

Diagnosis and prognosis of Angelman syndrome.
How is this defect diagnosed, you wonder?
Your child’s physician may suppose your child is suffering from Angelman syndrome if a developmental delay is accompanied by other signs of the disease like having imbalance, flat back side of the head or even having a small sized head.
Blood samples from your child may be needed for a genetic test to help in confirming the diagnosis. These tests will usually review the genetic patterns of the parental DNA. It is usually used in the viewing of three out of the four known causes of Angelman syndrome.  Your child may also undergo a test to show if some parts of their chromosomes could be missing.
A test to indicate if your child’s genes are active but mutated may also be needed. This test is usually to check if there is a mutated maternal gene.

How is Angelman syndrome treated and managed?
Angelman syndrome has no cure but is managed through medication which is focused on developmental issues. The measures used for the treatment of this involves; use of physical therapy for management of walking problems. Communication therapy which is inclusive of picture communication and sign languages. Behavior therapy helps in overcoming hyperactiveness and concentration to help in development.

Homeopathy is a natural method of treatment which treats a person holistically. It is used to balance the energy levels and perk up your body’s immunity. Another form of treatment for this disease is the acupuncture and acupressure method of treatment. It involves influencing your nervous system through control and connection of neurophysiological relations amid body systems via direction of bio-electrical impulses to the nerve fibers. The spinal cord, heart, and brain are also influenced by this treatment method.

If you or your child is suffering from this Angelman syndrome, psychotherapy may help you or your child in overcoming loss of concentration and hyperactivity which could boost the developmental progress. The conventional or allopathic treatment involves prescription of anti-seizure medication. In addition to this, the use of dietary and herbal treatment is a vital method of treatment as it helps with improved health. A high- fat diet referred to as the Ketogenic diet helps in careful regulation of carbohydrate, and proteins you consume if you suffer from Angelman syndrome.
Another form of treatment involves support for parents whose children suffer from Angelman syndrome. This is to help them get through the emotional and physical strain experienced in caring for these children. It is in form of respite care, family, and genetic counseling.

Support for parents of children with Angelman syndrome includes:
•    support organizations, such as the Australian Angelman Syndrome Association
•    genetic counselling
•    family therapy
•    respite care.

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