Angelman Syndrome
Angelman syndrome is a complex genetic disorder that attacks the nervous system, causing delays in the process of growth and development, both physically and intellectually. This genetic disease is a rare disease with a number of people suffering from about 1 in 12,000 people.
Symptoms of Angelman syndrome
The symptoms of Angelman syndrome are not seen at birth. Symptoms usually only occur when a child is stunted and develops around the age of 6 to 12 months, for example if he cannot sit alone without help or chat. The symptoms can be more clearly seen when the child is approaching 2 years, which is indicated by a smaller head size (microcephalus) and the occurrence of seizures. In addition, some other symptoms that can be shown Angelman syndrome are:
In addition to these physical symptoms, children with Angelman Syndrome usually have a playful, easy attitude, and often smile or laugh, hyperactivity, attention disorder, and sleep disturbance. As we get older, the joy and disruption of sleep will decrease.
Causes and risk factors for Angelman syndrome
Everyone has a copy of the UBE3A gene pair inherited from father (father) and mother (mother). Pairs of genes are active in most cells of the body. But in some parts of the brain, normally, only one copy of the UBE3A active gene, the mother's gene. Angelman syndrome occurs when copies of the UBE3A maternal gene on chromosome 15 are lost or damaged (mutated). In addition, Angelman's syndrome can also occur when a child inherits a pair of UBE3A genes on chromosome 15, but both of them originate from the paternal gene (uniparental disomy).
This genetic disease is classified as rare and the trigger is not known with certainty. The risk of suffering from this disorder is greater if you have relatives with similar disorders, although in many cases of Angelman syndrome, patients without parents with a history of this disorder.
Diagnosis of Angelman syndrome
To determine the diagnosis, the doctor must conduct a complementary examination. One of them is a blood test. These tests include genetic tests including parental DNA templates (DNA methylation) to look for abnormal genes, in situ hybridization fluorescence (FISH) to look for missing chromosomes, and analysis of UBE3A mutations.
Treatment of Angelman syndrome
Treatment of Angelman syndrome can be done according to the conditions and symptoms experienced by the patient. Although there is no known cure for this condition, this treatment aims to eliminate medical symptoms and impair the patient's growth and development.
Drug administration is one of the possible treatments. For people with Angelman syndrome who experience seizure symptoms, doctors can give antiepileptic drugs to control seizures, such as valproic acid and clonazepam.
In addition to providing drugs, other treatments can also be used to help patients cope with their developmental disorders. Some recommended therapies include:
If someone with Angelman Syndrome suffers from scoliosis, a tampon or spinal surgery can be done to prevent it from bending. The addition of tampons can also be done on the lower limbs or ankles, to help sufferers have difficulty walking on their own.
Most people with Angelman Syndrome experience developmental delays, limited speech, and difficulty walking. However, people with Angelman syndrome can still lead normal lives. Early diagnosis and proper treatment will improve the quality of life of patients.
The symptoms of Angelman syndrome are not seen at birth. Symptoms usually only occur when a child is stunted and develops around the age of 6 to 12 months, for example if he cannot sit alone without help or chat. The symptoms can be more clearly seen when the child is approaching 2 years, which is indicated by a smaller head size (microcephalus) and the occurrence of seizures. In addition, some other symptoms that can be shown Angelman syndrome are:
- Changes in balance and coordination (ataxia).
- His arms vibrate or move easily.
- Like pulling the tongue.
- The limbs are stiffer than usual.
- Crossed eyes (strabismus)
- Pale skin.
- Brighter hair and eyes.
- Scoliosis.
- Difficulty chewing and swallowing food
In addition to these physical symptoms, children with Angelman Syndrome usually have a playful, easy attitude, and often smile or laugh, hyperactivity, attention disorder, and sleep disturbance. As we get older, the joy and disruption of sleep will decrease.
Causes and risk factors for Angelman syndrome
Everyone has a copy of the UBE3A gene pair inherited from father (father) and mother (mother). Pairs of genes are active in most cells of the body. But in some parts of the brain, normally, only one copy of the UBE3A active gene, the mother's gene. Angelman syndrome occurs when copies of the UBE3A maternal gene on chromosome 15 are lost or damaged (mutated). In addition, Angelman's syndrome can also occur when a child inherits a pair of UBE3A genes on chromosome 15, but both of them originate from the paternal gene (uniparental disomy).
This genetic disease is classified as rare and the trigger is not known with certainty. The risk of suffering from this disorder is greater if you have relatives with similar disorders, although in many cases of Angelman syndrome, patients without parents with a history of this disorder.
Diagnosis of Angelman syndrome
To determine the diagnosis, the doctor must conduct a complementary examination. One of them is a blood test. These tests include genetic tests including parental DNA templates (DNA methylation) to look for abnormal genes, in situ hybridization fluorescence (FISH) to look for missing chromosomes, and analysis of UBE3A mutations.
Treatment of Angelman syndrome
Treatment of Angelman syndrome can be done according to the conditions and symptoms experienced by the patient. Although there is no known cure for this condition, this treatment aims to eliminate medical symptoms and impair the patient's growth and development.
Drug administration is one of the possible treatments. For people with Angelman syndrome who experience seizure symptoms, doctors can give antiepileptic drugs to control seizures, such as valproic acid and clonazepam.
In addition to providing drugs, other treatments can also be used to help patients cope with their developmental disorders. Some recommended therapies include:
- Activity therapy to help patients engage in activities such as swimming, horseback riding, or music.
- Behavioral therapy to deal with behavioral disorders, such as hyperactivity or attention distraction.
- Communication therapy, to develop nonverbal abilities and sign language.
- Physiotherapy, to help posture, balance, ability to walk and prevent contractures (rigid conditions).
If someone with Angelman Syndrome suffers from scoliosis, a tampon or spinal surgery can be done to prevent it from bending. The addition of tampons can also be done on the lower limbs or ankles, to help sufferers have difficulty walking on their own.
Most people with Angelman Syndrome experience developmental delays, limited speech, and difficulty walking. However, people with Angelman syndrome can still lead normal lives. Early diagnosis and proper treatment will improve the quality of life of patients.
0 Response to "Angelman Syndrome"
Post a Comment