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Ashima Sharda Mahindra • 11 Aug 2024
What Is Angelman Syndrome - A Rare Genetic Disorder Colin Farrell's Son Has Been Diagnosed With
Colin Farrell, 48, has also recently launched a Foundation to help people combating this intellectual disability
Hollywood actor Colin Farrell has opened up about his personal life, revealing his son James has been suffering from Angelman syndrome – a rare condition affecting mental development, speech, and balance. The 48-year-old Irish actor has also recently launched a Foundation to help people combating this intellectual disability.
Farrell shares James, who was diagnosed with this condition as a child, with his ex-partner Kim Bordenave.
What is Angelman Syndrome?
Angelman syndrome, also known as AS, is a genetic disorder that affects the nervous system and causes developmental and neurological problems. According to experts, it is caused by a loss of function in the UBE3A gene - usually only active from the mother. When the maternal copy of the gene is missing or damaged, the brain is not able to get the information it needs to develop and control speech and movement.
A person may have Angelman syndrome symptoms because parts of the UBE3A gene are inactive or missing – which happens in around 70 per cent of cases. Structural changes to UBE3A also result in Angelman syndrome, which is there in at least 11 per cent of cases.
Cleveland Clinic says characteristic features of Angelman syndrome include:
Developmental delay that is often noticeable by six-12 months of age
Intellectual disability
No speech or limited talking
Not able to move and balance
Seizures
Doctors say children with Angelman syndrome mostly have a happy, excitable attitude and frequently smile, laugh, and make hand-flapping motions. Angelman syndrome, named after Dr. Harry Angelman, an English physician who first described the condition in medical literature, can develop in any fetus and mostly affects the male child.
Signs and symptoms of Angelman syndrome
The signs and symptoms of Angelman syndrome vary from one person to another and with age. Most people with this disorder have the following symptoms throughout their lives:
Delayed development
Walking difficulties
A short and broad skull
Abnormally large tongue
Abnormally small head
A big lower jaw
Hyperactivity and a short attention span.
Difficulty sleeping
A fascination with water
Doctors say with age, people with Angelman syndrome become less excitable, and their sleeping problems tend to improve.
How is Angelman syndrome diagnosed?
According to experts, the characteristic symptoms of Angelman syndrome are not usually apparent at birth and are diagnosed in children between one to four years of age. However, it varies because Angelman syndrome has such a wide range of symptoms and severity.
In some cases, doctors can identify Angelman syndrome before your baby is born through a prenatal ultrasound, by looking at the signs of fetal growth issues. However, current studies have shown that non-invasive prenatal screening is most accurate in the diagnosis of Angelman syndrome pre-birth. NIPS determines the risk that your baby will be born with certain genetic abnormalities.
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