Recently actor Colin Farrell , during a filming of the Ellen Degeneres show, spoke about his 7-year-old son James, who has been diagnosed with a neurological condition called Angelman Syndrome. James was originally diagnosed with cerebral palsy, but at a later doctor’s visit, Farrell recalled:
“The doctor saw him one day and said, ‘Is he always this happy…and does he always kind of flap his arms like that? And we said, ‘Yes’. And he said, ‘And how does he feel about water?’ and we said, ‘Oh, water’s fascinating (to him)’.
It was partially his fascination with water that lead the doctor to test James for the rare genetic condition. Since his diagnosis, Farrell has been an advocate for the disease and has shown a passionate involvement with the Special Olympics.
And today, in several cities around the country, participants will be walking in the Angelman Syndrome Foundation National Walk to raise money to help children with the disease.
What is Angelman Syndrome?
Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems, affecting between 1/10,000 and 1/20,000 children and young adults. A physician named Harry Angelman first described the condition in 1965. He described several children in his practice as having “flat heads, jerky movements, protruding tongues, and bouts of laughter.”
Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. They can have severe speech impairment , often with little to no use of words.
Physically the children frequently have small heads with flattening at the back, protruding tongues, and widely spaced teeth. They may seem unsteady on their feet, have clumsiness, or quick, jerky motions.
Their behavior is very unique with a combination of frequent laughter and smiling. They seem apparently happy nearly all the time. They may display hyperactivity, and often have hand-flapping or waving movements. Sleep problems are common. There is also an attraction to/fascination with water as well as a fascination with crinkly items such as certain papers and plastics.
How is Angelman Syndrome diagnosed?
Angelman syndrome is usually not recognized in early infancy since the developmental problems are nonspecific during this time. The most common age of diagnosis is between two and five years when the characteristic behaviors and features become most evident. Individuals who have the physical and behavioral signs of Angelman Syndrome should undergo genetic testing (through blood testing) to confirm the disease.
Is there any treatment?
There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum
What is the prognosis?
Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.
For more information about Angelman Syndrome, click here to go to the Resounding Health Casebook on the topic.
Do any of you have any personal experience with someone with Angelman Syndrome? Please share it with us.