A rare neuro-genetic condition affecting around 500,000 people globally, Angelman Syndrome includes symptoms that can be mistaken for other disorders such as cerebral palsy, autism and Prader-Willi syndrome, which can lead to frequent misdiagnosis.
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The little known disorder was put under the spotlight in 2024, when actor Colin Farrell, whose son was diagnosed with Angelman Syndrome, criticised a lack of healthcare support once children with the condition reached young adulthood.
People with AS can live a long and happy life, but they will always need support. While there’s currently no known cure, research is continuing, led by scientists at the Angelman Syndrome Foundation, who believe there’s a “high chance” of discovering one.
What is Angelman Syndrome?
Occurring in one in 15,000 births globally, Angelman Syndrome is caused when the functionality of the UBE3A gene is disrupted. Located in the 15th chromosome from the mother, the gene is not present in 70% of cases. In up to 7% of cases, both copies of chromosome 15 are inherited from the father, while there is a pathogenic variant of the maternal copy of UBE3A in 11% of babies born with AS.
Angelman Syndrome was identified by English physician Dr Harry Angelman at Warrington General Hospital in 1965. He published a medical paper after observing three unrelated children with the same symptoms: a lack of speech, intellectual disabilities, motor disorders and a happy disposition.
He published his findings after seeing a painting by artist Giovanni Francesco depicting a laughing boy with a puppet. The description “puppet children” seemed to characterise Angelman’s assessment of the symptoms – a “jerky gait” with a happy personality.
Over time, further cases were diagnosed and the Angelman Syndrome Support Group was launched in 1986. The condition, initially called Happy Puppet Syndrome, was renamed Angelman Syndrome and the ASF was founded in 1992 to raise awareness, support families and provide funds for research.
Angelman Syndrome symptoms
Children with Angelman Syndrome have developmental challenges that are usually noticed between the ages of six and 12 months, such as a lack of crawling and “babbling”, although they may seem to be a happy baby, laughing all the time.
They may have a small head, known as microcephaly, with other physical symptoms include a prominent jawline, deep-set eyes, widely-spaced teeth and an ever-smiling mouth. Young children are unlikely to achieve age relevant milestones such as sitting up, walking, or learning to talk, and they may also having balance disorders and gastrointestinal issues. Studies show epilepsy occurs in around 80% of cases.
While trying to walk, they have a jerky gait, with a stiff-legged style, problems with coordination (ataxia), and they may flap their hands about. All children with Angelman Syndrome will have delayed development, with a severe disability in many cases. They always have a happy, loving and social demeanour and are easily moved to laugh, often being described as “lighting up a room” when they enter due to their sunny nature.
Children with AS tend to be hyperactive with a short attention span. They will have difficulties in feeding unaided and may experience delays in toilet training as a child, with research showing that around 20% of adults with the condition are unable to remain continent during the day.
How does Angelman Syndrome affect sleep patterns?
Disturbed sleep is a common symptom of people with AS, as problems falling asleep, waking frequently during the night and general restlessness are linked to neurological factors. Studies show sleep disturbance can affect as many as eight in ten people with AS from the age of six months and it is included in the diagnostic criteria.
The problems can include sleeping for less than four hours at night, without making up for lost sleep during the day; parasomnias such as night terrors; sleepwalking; and confusion. Night time laughter can be experienced, making falling asleep difficult, while sudden muscle contractions that feel like a fall or jolt also contribute to insomnia.
Research suggests reduced melatonin levels can contribute to Angelman Syndrome sleep patterns, as the hormone synchronises circadian rhythms to promote sleeping at night. Evidence suggests melatonin replacement therapy may help to improve sleep.
Continual sleep deprivation can have a serious impact on the life of the patient, as well as their family and carers, as it can cause extreme fatigue, depression, anxiety and cognitive impairment, making it harder to make decisions, concentrate and provide care.
Establishing a night time routine can help with sleep problems, such as avoiding electronic screens before bed, going outside for fresh air during the day and eating and drinking less during the evening. Making the bedroom a quiet and comfortable space can also help to manage sleep disturbances, including installing beds for special needs, such as the Bearhugzzz SpaceSaver bed to promote comfort and safety. Suitable for children and adults, it provides a safe yet strong environment for play, relaxation and sleep for people with Angelman syndrome, autism, epilepsy, learning difficulties and challenging behaviour.
How is Angelman Syndrome diagnosed?
The condition is not normally hereditary and doctors diagnose AS through a combination of genetic tests and a physical examination for characteristics such as microcephaly, a lack of crawling and speech and frequent laughter.
Genetic tests include chromosomal microarray to determine if parts of chromosomes are absent, DNA methylation analysis to screen for gene changes that cause Angelman Syndrome and UBE3A gene sequencing to investigate mutations in the maternal UBE3A gene.
Actor’s experiences with Angelman Syndrome
Irish actor Colin Farrell has spoken of his own experiences raising oldest son James, now 21, who was diagnosed as having Angelman Syndrome soon after his birth in September 2003. Farrell and his then partner, model Kim Bordenave, became aware of their son’s jerky gait, balance issues and feeding problems, revealing the diagnosis publicly in 2007 to raise awareness.
James took his first steps just before his fourth birthday – an emotional moment for Farrell, who admitted he cried on seeing his son’s “face of determination”, telling journalists, “I’m proud of him every day, because I think he’s magic.”
The actor has launched the Colin Farrell Foundation in honour of James, who is nonverbal, to aid families and individuals with intellectual disabilities, funding education and support programmes. He fears young people with AS lose out on support when they reach adulthood, as many of the accessible and affordable initiatives to help families of a child with special needs are withdrawn when they reach 21.
Angelman Syndrome research
Advances in medical research offer hope for the overall management of the condition, according to scientists at the ASF. Ongoing research into genetic therapies, seizure management and interventions targeting sleep disruptions may improve the quality of life for individuals with AS.
The organisation has invested more than £12.9 million to date to fund worldwide projects seeking treatments and ultimately a cure. It also funds educational programmes to support children with AS, providing tools and other aid to help them achieve success in life.
