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The Colin Farrell Foundation -

Colin Farrell has newly launched the Colin Farrell Foundation to provide support for individuals with intellectual disabilities and their families. Speaking with 'People' magazine, he said: "Once your child turns 21, they’re kind of on their own... all the safeguards that are put in place, special ed classes, that all goes away."

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Who is Colin Farrell? -

Colin Farrell is an Irish actor who gained fame in the early 2000s for starring in movies such as 'Tigerland' (2000), 'Minority Report' (2002), and 'Phone Booth' (2002).

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What is Angelman syndrome? -

Angelman syndrome is a rare neurodevelopmental condition that primarily affects the nervous system. It's caused by issues with the UBE3A gene.

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What is the nervous system? -

The nervous system is the body's command center. It originates in the brain and controls your movements, thoughts, behaviors, and automatic responses.

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Characteristic features of Angelman syndrome -

Characteristic features of Angelman syndrome include developmental delay, intellectual disability, no speech or limited speech, and issues with movement and balance.

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Characteristic features of Angelman syndrome -

Children with Angelman syndrome tend to have a happy, excitable attitude and frequently smile and laugh. They also make hand-flapping motions.

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Who does Angelman syndrome affect? -

Although rare, Angelman syndrome can develop in any fetus. The majority of cases are a result of spontaneous gene mutation. 

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Who does Angelman syndrome affect? -

Angelman syndrome affects people assigned male at birth and people assigned female at birth. 

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How common is Angelman syndrome? -

Angelman syndrome is a rare condition. It affects approximately one in 12,000 to 20,000 people. 

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Is Angelman syndrome on the autism spectrum? -

While autism spectrum disorder and Angelman syndrome share some of the same characteristics, such as developmental delay and speech issues, they are distinct conditions. Angelman syndrome isn't part of the autism spectrum.

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What are the symptoms of Angelman syndrome? -

Most people with Angelman syndrome (from 80% to 99%) have delayed development, learning disabilities, speech development issues, walking difficulties, seizures, and impaired balance.

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Symptoms of Angelman syndrome specific to children -

Children with Angelman syndrome tend to have distinctive behaviors, including a happy, excitable attitude, frequent smiling and laughing, hand-flapping motions, hyperactivity, and difficulty sleeping. 

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What causes Angelman syndrome? -

Many of the characteristic symptoms of Angelman syndrome are due to the loss of function of gene UBE3A. The changes occur in early fetal development before the baby is born.

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What is a genetic mutation? -

A genetic mutation is a change in a sequence of DNA. DNA gives cells the information they need to perform their functions, and if part of the DNA sequence isn't complete or is damaged, a person may experience symptoms of a genetic condition.

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The UBE3A gene -

People normally inherit one copy of the UBE3A gene from each biological parent. When the maternal copy of the UBE3A gene is lost due to a chromosomal change or gene mutation, no active copies of the gene are present in certain parts of the brain, leading to the characteristic symptoms of Angelman syndrome.

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The UBE3A gene -

Abnormalities of the UBE3A gene occur randomly—they aren't inherited or passed down.

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How is Angelman syndrome diagnosed? -

Angelman syndrome's characteristic symptoms aren't usually apparent at birth. The condition is typically diagnosed in children aged between one and four. 

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How is Angelman syndrome diagnosed? -

Angelman syndrome can sometimes be misdiagnosed as other conditions closely resemble it, such as autism spectrum disorder, cerebral palsy, Mowat-Wilson syndrome, and Prader-Wili syndrome.

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Genetic testing -

The only certain way to diagnose Angelman syndrome is with genetic testing to identify changes to the UBE3A gene.

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What tests are used to diagnose Angelman syndrome? -

In some cases, doctors can identify Angelman syndrome before a baby is born through a prenatal ultrasound. 

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What tests are used to diagnose Angelman syndrome? -

Some recent studies have shown that noninvasive prenatal screening (NIPS) is an accurate way to diagnose Angelman syndrome pre-birth. This testing analyzes fragments of DNA in the pregnant person's blood.

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Diagnosis of Angelman syndrome after birth -

Doctors tend to diagnose Angelman syndrome in children between one and four years of age via a variety of specialized blood tests.

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Diagnosis of Angelman syndrome after birth -

A doctor may also order an Electroencephalogram (EEG) to help diagnose or check for possible complications of Angelman syndrome. The EEG can show a characteristic brain activity pattern of Angelman syndrome and any epileptic activity.

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Diagnosis of Angelman syndrome after birth -

A sleep study, or polysomnography test, can diagnose any sleep disorders that are common in children with Angelman syndrome.

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How is Angelman syndrome treated? -

There is no main treatment for Angelman syndrome. Healthcare providers, including pediatricians, neurologists, physical therapists, and speech-language pathologists, focus treatment on the specific symptoms that each child has.

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Symptom management -

Symptom management may include interventions and treatments like physical therapy to help with balance and walking issues, behavioral therapy, and anti-seizure medication for those who experience seizures.

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Is there a cure for Angelman syndrome? -

There is currently no cure for Angelman syndrome. Treatment involves managing the symptoms of the condition.

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Can Angelman syndrome be prevented? -

There is no way to prevent Angelman syndrome, as it occurs as a result of spontaneous abnormalities. In most cases, it happens without a known cause. 

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When should my child see their healthcare provider? -

If your child has been diagnosed with Angelman syndrome, they'll need to see a healthcare team regularly to ensure treatment and therapies are working.

Sources: (People) (Cleveland Clinic)

See also: The most common genetic conditions in the world

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