Angel syndrome

Angel syndrome's disease overview

Angel syndrome (English name is Angelman Syndrome) is a genetic disorder related to abnormalities in the structure of the number 15 chromosome, affecting the nervous system and the nervous system and Causing children's physical and intellectual defects.

Children with angelic syndrome often smile and smile without self -control, cheerful personality easily agitated. Children often grow slowly from 6 to 12 months of age. Epilepsy usually starts from 2 to 3 years old.

Although children have Angel syndrome can live normally, but now this disease has no treatment thoroughly, the treatment mainly focuses on control of problems. Health.

Causes of Angel syndrome's disease

Angelman syndrome is caused by a genetic disorder caused by Ubiquitin Liga E3A (UBE3A) gene located on chromosomes No. 15 with defect or loss of function. The cause of this syndrome includes:

Children inherit a pair of genes from parents: 1 copy from the mother and 1 copy from the father;

Cells will usually use information from both copies but for a few genes, only one copy is activated.

The gene originating from the mother is inactivated or broken while the gene originating from the father still works normally. When these two genes combine together causing clinical manifestations such as "fun", "continuous laughing" in children.

In some cases, angelic syndrome occurs in both copies of the gene inherited, instead of one word and one mother.

Symptoms of Angel syndrome's disease

Children with angelic syndrome will usually be normal at birth, but gradually appearing about eating and developing slowly from 6 to 12 months of age. The typical symptoms of Angelman syndrome in children include:

Difficulties: Children may have difficulty sucking, sucking and swallowing during the newborn period.

Mobility retarded: Difficulty walking or being unable to keep balance, 6-12 months old to know cows, 1 year old to sit and sit, 3 years old to know.

The rough gait, like the robot of the robot due to the stiffness of the joints, there are abnormal behaviors such as applause, hand and lifting arms up when walking .

always has a happy face, laughing even in situations where there is no laugh.

Intellectual disabilities: The ability to think down, not speak or speak very few words, even lose language ability.

90% of children starting epilepsy when they start 2-3 years old. The common epilepsy forms are: Spastic spasms, body convulsions, seizures, consciousness, complicated local epilepsy, even a state of life -threatening epilepsy. Convulsions can be maintained for the rest of life.

Areas are easily agitated: Children often move from one activity to another, cannot be focused on anything for anything, likes to close their fingers or toys in the mouth.

Sleep disorders: Patients with Angelman syndrome often sleep less than everyone, even sleep only 1-2 hours a day but still show fun.

About appearance, children may have some signs:

Small head size, the back of the flat head

Discounted pigments, skin, skin and eyes are lighter than usual.

Children with a tongue push, or stick out of the tongue out, wide mouth.

Scoliosis: The spine of a few patients can develop in an abnormal curved direction, unnatural gait.

Obesity: A little larger your child will crave more than normal, long -term children can lead to obesity.

People at risk for Angel syndrome's disease

Angel syndrome is an extremely rare genetic disease with a probability of about 1/12,000 - 20,000. Most children with an angel syndrome are diagnosed within 3-7 years, because then the signs of behavior and movement of children have become clear and easy to identify.

Initially, very few cases of angelic syndrome were discovered. But in the past 3 decades, the advances of genetics have helped doctors diagnose and record more and more patients with this syndrome.

Despite the average life expectancy of an angelic syndrome equivalent to normal people, patients need to be cared for throughout their lives.

Prevention of Angel syndrome's disease

The angelic syndrome is a genetic disease that can be inherited from parents who are affected by children through defect genes. If a person with a family history has an angelic syndrome or has a child with an angelic syndrome, it is necessary to consider the exchange with a doctor or genetic advisor to help planning a pregnancy in the future. P>

Diagnostic measures for Angel syndrome's disease

If the child is underdeveloped and has typical symptoms of angel syndrome, the doctors will perform some additional tests such as blood tests, chromosomal analysis, genetic test of the father. Mother and child by many methods to confirm the disease exactly.

Chromosomal analysis: To see if there is any part of the missing chromosomes.

Hypro hybrid (Fish): is a test that helps to check the chromosomes in detail when the 15 is deleted when the doctor suspects the angel syndrome or to check the chromosome. In the mother Methylation DNA: This test shows that genetic materials on both the mother and father's chromosomes are active.

Genetic analysis of Ube3a gene: is a test that helps to see the genetic code on the Mother's Genet Copy.

The most important thing for Angel syndrome diagnosis is to know which genetic change causes this condition. This is meaningful to determine whether there is a risk of happening again in other family members. Most children who experience angel syndrome are usually diagnosed within 18 to 6 years of age when symptoms have increasingly manifested.

Angel syndrome's disease treatments

Currently, the world has not found a way to treat angel syndrome . Measures to treat the disease focus on nurturing and improving the ability to exercise, communication and language in children including therapies, surgery and exercise.

Depending on the signs and symptoms of the child, the temporary treatment of angelic syndrome may include:

Anti -epileptic drugs to control seizures, epilepsy

Physiotherapy exercises: To help improve posture, balance and help children learn to travel.

Communication education: Including symbol language and image communication;

behavioral education: To help children overcome hyperactivity, increase concentration in a short period of time and support intellectual development.

Activities such as swimming, horse riding and music therapy are also beneficial

Wear spinal support tools or spinal surgery to prevent the spine from curved.

Brace of ankle and feet to help children walk on their own.

Although there has not been a completely cure method Angel syndrome , but scientists think that in the future, the impact of correction Treating and restoring the function of chromosomes No. 15 will help children to restore health soon. During that time, parents and doctors should combine many different methods to treat symptoms and help children adapt gradually to life.

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