Angelman syndrome (AS) is a rare genetic disorder that is associated with severe intellectual disability, motor dysfunction, and epilepsy. While AS is a complex neurological disorder, it is also typically characterized by a unique and striking symptom: happiness. People with AS tend to have an overall happy disposition, often laughing and smiling at seemingly random moments, even in the face of difficulty. This begs the question: why does Angelman syndrome cause happiness?
Neurobiological Basis of Happiness in Angelman Syndrome
The source of happiness in AS is thought to be rooted in the neurobiological basis of the disorder. AS is caused by the deletion or mutation of the UBE3A gene, located on chromosome 15. This gene encodes for the enzyme ubiquitin protein ligase E3A, which is responsible for controlling the degradation of certain proteins in the brain. When the UBE3A gene is mutated, the enzyme’s activity is reduced, leading to the accumulation of proteins in the brain, which in turn disrupts the normal functioning of certain neural pathways.
Research suggests that the disruption of certain neural pathways in AS can lead to the overproduction of serotonin, dopamine, and endorphins in the brain. Serotonin is a neurotransmitter that is involved in regulating mood, while dopamine is involved in the reward system of the brain. Endorphins are hormones that are released in response to stress and pain and are associated with feelings of pleasure and euphoria. The overproduction of these neurotransmitters and hormones in the brain of an individual with AS could lead to an overall feeling of happiness and contentment.
Happiness in Angelman Syndrome as a Coping Mechanism
In addition to the neurobiological basis of happiness in AS, some researchers suggest that the happy disposition of those with AS may also be a result of psychological adaptation. The profound intellectual disability, motor dysfunction, and epilepsy associated with AS can make daily life extremely difficult. It has been suggested that the outward display of happiness in individuals with AS may be a coping mechanism to help them deal with the challenges of everyday life.
Happiness as a Symptom of Angelman Syndrome
Finally, it is important to note that happiness may be a symptom of AS in and of itself. While the neurobiological and psychological aspects of the disorder likely play a role, it is possible that happiness is simply a characteristic of the syndrome that is unique to those with AS.
In summary, the cause of happiness in Angelman syndrome is likely due to a combination of neurobiological, psychological, and symptomatic factors. The disruption of certain neural pathways in AS likely leads to an overproduction of certain neurotransmitters and hormones in the brain, which could lead to an overall feeling of happiness and contentment. Additionally, the happy disposition of those with AS may be a result of psychological adaptation to cope with the challenges of everyday life. Finally, it is possible that happiness is simply a characteristic of the syndrome that is unique to those with AS.