Angelman syndrome: symptoms, treatment, etc. & bull; hello healthy

x

Definition

What is Angelman syndrome (Angelman syndrome)?

Angelman syndrome or Angelman syndrome is a complex genetic disorder from birth that affects the nervous system.

Angelman syndrome or Angelman syndrome is a birth disorder that can make children experience developmental delays and psychomotor maturation, especially intellectual problems.

Babies with Angelman syndrome also often experience problems in speech development as well as problems related to balance movements (ataxia).

Angelman syndrome or Angelman syndrome is a condition from birth that often makes children smile, laugh, and have a fun and vibrant personality.

The developmental delay associated with Angelman syndrome usually starts around the age of 6 months or 24 weeks until the baby is 12 months old.

Late development of a baby is the first sign of Angelman syndrome or Angelman syndrome.

Over time, babies can experience seizures that start between the ages of 2 and 3.

Babies born with this syndrome tend to have a normal life expectancy like people in general, but this disease cannot be cured.

Treatment will focus on treating medical problems and child development.

How common is this condition?

Angelman syndrome or Angelman syndrome is a birth defect or disorder that can make children hyperactive and have trouble sleeping.

Actually there is no known exact number of cases of Angelman syndrome or Angelman syndrome. It's just that, according to the U.S National Library of Medicine, this condition can be experienced by about 1 in 12,000-20,000 newborns.

Angelman syndrome can be treated by reducing the risk factors. Talk to your doctor for more information.

Signs and Symptoms

What are the signs and symptoms of Angelman syndrome (Angelman syndrome)?

Babies with Angelman syndrome usually appear normal at birth. However, babies generally have feeding problems or have difficulty eating in the first few months after birth.

Developmental delay is also seen when the baby is 6-12 months old. Take for example the baby can crawl, the baby can sit, and the baby can stand up but a little too late.

Most children with Angelman syndrome can experience recurrent seizures and small head size (microcephaly).

In addition, Angelman syndrome or Angelman syndrome is also a congenital disorder that often makes it difficult for children to sleep.

The general signs and symptoms of Angelman syndrome can vary from child to child. Broadly speaking, the various signs and symptoms of Angelman syndrome or Angelman syndrome are as follows:

• Impairments in cognitive and intellectual development.
• Rarely speaking or not speaking at all.
• Difficulty walking, moving, or balancing well (ataxia).
• Smile and laugh often.
• Have a fun and passionate personality.
• Experiencing sleep disorders, such as insomnia and lack of sleep.
• Have seizures.
• The lower jaw sticks out.
• Stiff legs.
• Hyperactive or too active in moving.
• Sudden stiff or jerking movements.
• Small head circumference with flat back (peyang).
• The tongue pushes out (like biting the tongue with the upper and lower teeth).
• Light colored hair, skin, and eyes (hypopigmentation).
• Unusual behavior, such as hands flapping and arms raised while walking.
• Light pigmentation on hair, skin and eyes.

Basically, the symptoms of Angelman syndrome or Angelman syndrome can be seen as a baby or during a growing child.

For clarity, the symptoms of Angelman syndrome or Angelman syndrome are as follows:

Ataxia

Ataxia is a disorder in the form of a lack of coordination between body parts.

Children with Angelman syndrome generally have difficulty making movements that require coordination of several parts of the body.

Take for example taking things, holding objects, walking, even chewing and swallowing food.

Tremor and restless

Due to disruption of the development of the body muscles, tremors (shaking) can be found in people with this syndrome.

In addition, several studies suggest that sufferers tend to be restless and hyperactive.

Scoliosis

Most sufferers also have a side curved spine called scoliosis.

One of the visible signs is the stark difference in the height of the right and left shoulders.

Cockeye

In the medical world, crossed eyes are also known as strabismus. This phenomenon occurs because the muscles around the eye are weakened so that the position of the eyeballs is not parallel.

Growth and development disorders

Even though they can live to adulthood, developmental disorders occur in children with this syndrome because there are developmental obstacles in the child's nervous system.

It is not uncommon for children to experience seizures when they are a few months old.

Rigid limb

Most babies suffer from stiffness in all four limbs due to excess muscle strength in that area.

As they get older, children with Angelman syndrome become less excited. However, sleep disorders in children usually tend to improve.

Children with Angelman syndrome will usually still have intellectual problems, severe speech problems, and seizures.

Other symptoms of Angelman syndrome or Angelman syndrome are light skin and hair color.

There may be other symptoms not listed above. If you have other concerns regarding your child's condition, you should consult a doctor.

When to see a doctor?

Angelman syndrome or Angelman syndrome is a congenital disorder or defect that can cause a variety of symptoms.

If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Angelman syndrome (Angelman syndrome)?

Angelman syndrome or Angelman syndrome is a birth defect or disorder that is genetically acquired.

Angelman syndrome or Angelman syndrome is caused by a problem with a gene that is on chromosome 15.

This gene is known as ubiquitin protein ligase E3A (UBE3A). Normally, children will inherit one copy of the gene from each parent.

So the total two copies of the gene that the child gets is involved in many things all over the body.

In other words, the child receives a pair of genes from both parents, one copy from the mother (maternal copy) and one from the father (paternal copy).

The cells in the child's body usually use the information from both copies. Angelman syndrome or Angelman syndrome is a genetic disorder that can occur when there is only one copy of the UBE3A gene that is active in a certain area of ​​the brain.

Launching from the Mayo Clinic page, most of the causes of Angelman syndrome are because a part of the copy of the gene passed down from the mother is damaged.

However, in some other cases, the cause of Angelman syndrome is because two copies of the paternal gene are inherited and not one from each parent.

Risk Factors

What increases your risk of getting Angelman syndrome (Angelman syndrome)?

It is not certain why genetic changes can cause Angelman syndrome. Most children born with Angelman syndrome generally do not have a family history of having this syndrome.

But in certain cases, Angelman syndrome can be passed from parent to child.

So, the risk of a baby experiencing Angelman syndrome or Angelman syndrome increases if it is born to parents who also have this disorder.

If you want to reduce the risk factors that you and your baby may have, consult your doctor immediately.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor for more information.

How to diagnose Angelman syndrome (Angelman syndrome)?

Angelman syndrome or Angelman syndrome can be diagnosed in the following ways:

Prenatal diagnosis

Diagnosis of Angelman syndrome when the baby is still in the womb can be done by checking the amniotic fluid of the pregnant woman.

The examination can be continued with a chromosome test so that certain genetic disorders can be found. If chromosome 15 abnormalities are found, your child is suspected of having this syndrome.

Postnatal diagnosis

If the doctor suspects that you or your child has this condition, the doctor and a team of experts will perform a physical examination when the newborn is born.

Apart from observing the physical abnormalities and tracing the development history of the child that leads to this disease, the diagnosis can be made by performing chromosome analysis.

Chromosome analysis or tests can help show if there is an abnormality in chromosome 15. This test also helps see if any chromosome is missing.

Diagnosis of Angelman syndrome is generally always done with a blood test. Blood tests, for example with genetic tests, can find out the chromosomal abnormalities in children that lead to Angelman syndrome.

The results of genetic testing generally show a chromosome problem associated with Angelman syndrome. Genetic testing can show the following results:

• DNA methylation, to show whether the genetic material on both the mother's and the father's chromosomes is active.
• Losing chromosomes, to show an incomplete part of the chromosome.
• UBE3A gene mutation analysis, is used to see if the genetic code in the maternal copy of UBE3A has changed.

What are the treatments for Angelman syndrome (Angelman syndrome)?

Actually, there is no treatment that can really cure Angelman syndrome. The treatment given to children aims to treat medical problems, monitor their progress, and relieve symptoms.

Treatment for Angelman syndrome usually depends on the signs and symptoms you are experiencing.

The various treatments for Angelman syndrome or Angelman syndrome are as follows:

• Anti-seizure drugs to treat seizures.
• Physical therapy to help with walking and movement difficulties.
• Speech and communication therapy which can include sign language and communication via images.
• Behavioral therapy to help children deal with hyperactive, difficult to focus children, as well as help their development.
• Usage brace back or spine surgery may be recommended to prevent the spine from becoming increasingly curved.
• Orthosis (brace lower leg) ankles or soles of the feet may be encouraged to assist with walking on their own.

If possible, you can invite your child to do activities such as swimming, horse riding, and music therapy to help support their development.

However, as a parent you don't need to worry because the body health of children with this syndrome is generally good.

Over time, regular practice, and support from the people around him, the abilities and skills of children can develop properly.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.