Recently Irish actor Colin Farrell was on the Ellen Degeneres show to promote the release of his latest movie, Fright Night. During the interview, Farrell spoke about his 7-year-old son James, who has been diagnosed with the neurogenetic condition 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. This past weekend, in several cities around the country, participants walked in the 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 . He described the patients as "Puppet Children" who expressed bouts of laughter along with other characteristic features.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.
Developmental and Physical Findings (from )
Consistent (100%)
- Developmental delay, functionally severe
- Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs. Movement disorder can be mild. May not appear as frank ataxia but can be forward lurching, unsteadiness, clumsiness, or quick, jerky motions
- Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with uplifted hand-flapping or waving movements; hypermotoric behavior
- Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
Frequent (more than 80%)
- Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (=2 S.D. of normal OFC) by age 2 years. Microcephaly is more pronounced in those with 15q11.2-q13 deletions.
- Seizures, onset usually < 3 yrs. of age. Seizure severity usually decreases with age but the seizure disorder lasts throughout adulthood.
- Abnormal EEG, with a characteristic pattern. The EEG abnormalities can occur in the first 2 years of life and can precede clinical features, and are often not correlated to clinical seizure events.
- Flat occiput
- Occipital groove
- Protruding tongue
- Tongue thrusting; suck/swallowing disorders
- Feeding problems and/or truncal hypotonia during infancy
- Prognathia
- Wide mouth, wide-spaced teeth
- Frequent drooling
- Excessive chewing/mouthing behaviors
- Strabismus
- Hypopigmented skin, light hair and eye color (compared to family), seen only in deletion cases
- Hyperactive lower extremity deep tendon reflexes
- Uplifted, flexed arm position especially during ambulation
- Wide-based gait with pronated or valgus-positioned ankles
- Increased sensitivity to heat
- Abnormal sleep wake cycles and diminished need for sleep
- Attraction to/fascination with water; fascination with crinkly items such as certain papers and plastics
- Abnormal food related behaviors
- Obesity (in the older child)
- Scoliosis
- Constipation
Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are active in many of the body's tissues. In certain areas of the brain, however, only the maternal copy is active. This parent-specific gene activation is caused by a phenomenon called genomic imprinting. If the maternal copy of the UBE3A gene is lost or mutated, a person will have no active copies of the gene in some parts of the brain.
Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene. Most cases of Angelman syndrome (about 70%) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases (about 11%), Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene.
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 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 developmental potential.
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 to go to the Resounding Health Casebook on the topic.