Angelman Syndrome: Causes, Symptoms, Risk Factors, Diagnosis, Treatment, Prevention and Complications

Angelman syndrome is an inherited disease. It causes intellectual incapacity, speech and balance problems, delayed growth, and even convulsions.

Angelman syndrome patients frequently smile and laugh and have happy, sociable attitudes. Usually beginning between the ages of 6 and 12 months, developmental delays are the first signs of Angelman syndrome. Seizures may begin between the ages of two and three.

Although Angelman syndrome is incurable, affected people usually live very normal lives. The major objectives of treatment are to manage issues related to health, sleep, and development.

Causes Of Angelman Syndrome

Angelman syndrome is an inherited illness. Usually, the problem originates from the ubiquitin protein ligase E3A (UBE3A) gene on chromosome 15.

A Defective or Missing gene

Your genetic composition is composed of two sets of genes that come from your father (the paternal copy) and mother (the maternal copy).

Certain genes only have one active copy, even though your cells normally use both copies of the gene. The maternal copy of the UBE3A gene is typically active in the brain. The maternal copy is partially lost or damaged in the majority of cases of Angelman syndrome.

There are instances when the gene is inherited in two paternal copies instead of one, leading to Angelman syndrome.

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Symptoms Of Angelman Syndrome

Angelman syndrome signs and indicators include:

• Cognitive impairment
• Developmental defects, such as the incapacity to walk or talk at six to twelve months
• Minimal or nonexistent speech impairment
• Inability to move or balance
• Laughing and grinning a lot
• Having a lively and pleasant personality
• Having difficulty eating or sucking
• Inability to get asleep and remain asleep

Those who have Angelman syndrome may also exhibit the following traits:

• Seizures can cause jerky or rigid motions and they typically begin between the ages of two and three.
• Small head size and a flat back
• Tongue thrusting
• Light-coloured eyes, hair, and skin
• Unusual movements, such as walking while waving one's hands
• Increased problems with spinal curvature (scoliosis)
• Sleep difficulties

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Risk factors Of Angelman syndrome

The Angelman syndrome is uncommon. Usually, the underlying genetic change causing Angelman syndrome remains unclear to researchers. Most people with Angelman syndrome do not have any relatives with the condition.

Rarely, parents can give their children Angelman syndrome. If there is a family history of Angelman syndrome, a baby may be more vulnerable to the disorder.

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Diagnosis Of Angelman Syndrome

Your child's doctor may suspect Angelman syndrome if your child displays signs and symptoms such as developmental delays, especially little or no language, as well as seizures, balance problems, small head size, and happy disposition.

Almost invariably, a blood test can yield a definitive diagnosis. This genetic testing can identify chromosomal abnormalities associated with Angelman syndrome in your child.

Numerous genetic testing techniques can be used to identify the chromosome abnormalities associated with Angelman syndrome. These tests may cover:

Parental DNA pattern. This test, also known as a DNA methylation test, screens for three of the four known genetic abnormalities that cause Angelman syndrome.

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Treatment Of Angelman Syndrome

There is currently no recognised cure for Angelman syndrome. Targeting specific genes for treatment is the aim of research. The primary goal of contemporary treatment is to manage medical and developmental issues.

A multidisciplinary team of medical experts will most likely work with you to manage your child's illness. Depending on the symptoms, your child's treatment for Angelman syndrome may include any or all of the following:

• Antiseizure medications that reduce seizures
• Physical treatment for problems with mobility and walking
• Sign language and picture communication are two possible components of speech and communication therapy.
• Behaviour therapy to promote development and help with hyperactivity and attention span problems
• Medication and sleep training are used to address sleep issues.
• Medication and dietary changes to help with digestive issues such as constipation.

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Prevention Of Angelman Syndrome

Rarely, a child born to a parent with Angelman syndrome may inherit the condition due to defective genes. Consult a genetic counsellor or your doctor if you have any concerns regarding a family history of Angelman syndrome or if you currently have a kid who has the condition.

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Complications Of Angelman syndrome

Complications associated with Angelman syndrome include the following:

• Feeding issues: Feeding problems may be the cause of difficulty swallowing or sucking in infants. The paediatrician may recommend a high-calorie formula to help your baby acquire weight.
• Hyperactive: Angelman syndrome children are known for their rapid task switching, short attention spans, and continual tossing of hands or toys in their mouths. People's hyperactivity tends to decrease with age, therefore medication is usually not needed.
• Difficulties with sleep: Because they often have unpredictable sleep-wake patterns, people with Angelman syndrome may require less sleep than typical. People's sleep issues may improve with age. Behaviour therapy and medication can be used to treat sleep disturbances.
• The curving of the spine is called scoliosis: In some people with Angelman syndrome, the spine eventually develops an aberrant side-to-side curvature.
• Obesity: Older children with Angelman syndrome usually have hyperactive appetites that could lead to obesity.

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