Angelman Syndrome

Angelman syndrome is a genetic condition. This means there's a problem with one of the body's instructions (genes). This genetic change causes various challenges.

One of the most noticeable things about Angelman syndrome is that many people with the condition often smile and laugh a lot. They generally have a cheerful, happy disposition and are easily excited.

Signs of Angelman syndrome usually appear between six and twelve months old. These early signs often involve developmental delays, meaning the child isn't reaching milestones like sitting up or talking as expected. Sometimes, seizures start around ages two or three.

While Angelman syndrome can't be cured, people with the condition typically live a lifespan close to that of people without the condition. Treatment is focused on helping manage the health issues that arise. This can include managing things like seizures, sleep problems, and developmental challenges. Doctors work to help improve the quality of life for those with Angelman syndrome.

Angelman syndrome is a condition that causes several developmental problems. Babies with this syndrome often have trouble reaching typical developmental milestones. For example, they might not crawl or babble by 6 to 12 months of age.

This condition also usually leads to intellectual disabilities, meaning challenges with learning and thinking. Many children with Angelman syndrome have little or no speech. They may also struggle with walking, moving, or maintaining balance.

One of the interesting, and sometimes confusing, aspects of Angelman syndrome is that affected individuals often smile and laugh a lot and seem generally happy. However, they may also be easily excited or overstimulated. Other common problems include difficulties with feeding (like sucking or swallowing), trouble sleeping, and frequent seizures, often starting around age two or three.

Physical features can also be affected. Some children have small heads by the time they are two years old. They might have jerky or stiff movements, and sometimes unusual behaviors like flapping their hands or walking with their arms raised. Eye problems, such as crossed eyes (strabismus), and back problems, like a curved spine (scoliosis), can also occur. They might also have light-colored hair, skin, and eyes. A tongue thrusting habit is also sometimes seen.

Crucially, many babies with Angelman syndrome don't show any symptoms at birth. The first noticeable signs are often developmental delays, such as a lack of crawling or babbling between six and twelve months.

If you're concerned about your child's development or notice any of these symptoms, it's essential to talk to your pediatrician or other healthcare provider. Early diagnosis and intervention can make a big difference in supporting a child with Angelman syndrome.

Many babies born with Angelman syndrome don't have noticeable problems right away. Instead, the first signs are usually delays in reaching developmental milestones. This might mean a baby isn't crawling or babbling by the time they're 6 to 12 months old. There are other possible early signs of Angelman syndrome, too.

If you notice any delays in your child's development or if you observe other potential symptoms, it's important to schedule an appointment with your child's doctor. Early diagnosis is key to getting the right support and care.

Angelman syndrome is a condition that happens because of problems with a particular gene. This gene, called UBE3A, is located on a part of your genetic material called chromosome 15.

We all inherit our genes in pairs, one from each parent. One gene copy comes from your mother (the maternal copy), and one from your father (the paternal copy).

Usually, your body uses instructions from both copies of a gene. However, for some genes, like UBE3A, only the copy inherited from your mother is actively used by your cells.

The UBE3A gene, when working correctly, plays a crucial role in helping your brain develop. Angelman syndrome occurs when there's a problem with the mother's copy of this gene. This problem might be that a piece of the gene is missing or damaged. Without the correct instructions from the UBE3A gene, the brain can't develop and function properly, leading to difficulties with speaking and moving.

In very few cases, Angelman syndrome results from inheriting two copies of the UBE3A gene from the father, rather than one from each parent. This unusual inheritance pattern also disrupts the normal gene function.

Angelman syndrome is a rare condition. Scientists often don't fully understand why some people develop this syndrome. In many cases, there's no history of the syndrome in the family.

However, sometimes Angelman syndrome can be inherited from a parent. If there's a family history of the syndrome, it means there's a slightly higher chance a child might develop it. This increased risk is not a guarantee, but it does raise the possibility.

Angelman syndrome can cause several health challenges.

Feeding difficulties: Babies with Angelman syndrome may have trouble sucking and swallowing at the same time. This can lead to problems getting enough nutrition. Their doctor might recommend a special formula with extra calories to help them gain weight.

High energy levels and short attention spans: Children with Angelman syndrome often have a lot of energy and move quickly between activities. Their attention spans might be short, and they may often put objects, like toys, in their mouths. These behaviors often lessen as the child gets older. Medication isn't usually needed for this.

Sleep problems: People with Angelman syndrome sometimes have trouble sleeping and waking up at regular times. They might need less sleep than others. Sometimes, these sleep problems improve as the person gets older. If needed, medicine and therapies to improve sleep habits may be helpful.

Scoliosis (spinal curvature): Some people with Angelman syndrome may develop a sideways curve in their spine over time. This is called scoliosis.

Weight gain (obesity): Older children and adults with Angelman syndrome can sometimes gain weight more easily. This is a common concern and should be discussed with their healthcare provider.

Angelman syndrome is a rare condition that sometimes runs in families. In very few cases, a child can inherit the syndrome from a parent who has it. This happens when certain genes are altered. If you have a family history of Angelman syndrome, or if your child has been diagnosed with it, it's important to talk to a doctor or genetic counselor. They can provide advice and help you make decisions about future pregnancies. They can explain the risks and options available to you.

Doctors might suspect Angelman syndrome in a child who's experiencing delays in developing skills, has trouble talking, or shows other related signs. These signs can include seizures, difficulties with movement and balance, or a head size that's smaller than average.

Diagnosing Angelman syndrome can be tricky because some of its symptoms overlap with other conditions.

Fortunately, a blood test is often very helpful in diagnosing Angelman syndrome. This test, called genetic testing, looks for changes in the child's chromosomes that are characteristic of Angelman syndrome.

Pinpointing the specific genetic changes linked to Angelman syndrome often involves a combination of tests. These tests might include:

• Checking DNA patterns: A DNA methylation test looks for three of the four known genetic changes that cause Angelman syndrome. This test checks how DNA is marked, and how that marking relates to the gene activity.
• Checking for missing chromosome parts: A chromosomal microarray (CMA) can reveal if sections of a child's chromosomes are missing. This test is like a detailed map of the chromosomes, looking for any gaps or extra pieces.
• Checking for gene changes: In some rare cases, Angelman syndrome happens when the child's copy of the UBE3A gene inherited from their mother is active but has a problem. If the DNA methylation test is normal, a doctor might order a more specific test called UBE3A gene sequencing to look for this maternal gene change. This test looks at the exact code of the UBE3A gene for any errors.

Because Angelman syndrome is often associated with seizures, a doctor might also use an EEG (electroencephalogram). An EEG measures the electrical activity in the brain, helping to identify any unusual patterns that might suggest seizures or other brain issues.