Angelman syndrome is a genetic disorder that mainly affects the nervous system. Angelman Syndrome is considered a ‘syndromic’ form of autism spectrum disorder. Some characteristic of this condition are delayed development, intellectual disability which means it’s harder for them to learn, speech impairment, and ataxia which is problems with balance and movement. Most affected children also have epilepsy and microcephaly meaning relatively small heads.
Delayed development may become noticeable as early as 6 months old, and more common signs and symptoms usually appear in early childhood. Most cases of Angelman syndrome are not inherited, they’re usually caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells, the egg and the sperm, or in early embryonic development.
The main fear with angelman syndrome is the mothers think it’s their fault and they say “I did everything right” and they might have it’s just been a rare mutation carried by one of the child’s parents. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and have what’s called happy hand movements, which is quite common in many forms of autism. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual. With age, these symptoms seem to improve and get better over time.
However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures all throughout their lives. Adults with Angelman syndrome have distinct facial features that are often described as “coarse”, where they have larger facial features but their head is slightly smaller than normal. Other common features include unusually fair skin with light-colored hair and scoliosis which is an abnormal side-to-side curvature of the spine. The life expectancy of people with this condition appears to be nearly normal. Angelman syndrome is usually diagnosed by a healthcare provider. If they are suspecting they will usually do a physical examination and check personal medical history along with the child’s family medical history along with a few lab tests like genetics testing.
Molecular, chromosomal, and biochemical genetic testing could also be used to diagnose genetic disorders. Other laboratory tests that measure the levels of a particular substance in blood and urine can also help suggest a diagnosis. The prognosis of a genetic condition depends a lot of different factors, such as the specific diagnosis and a person’s particular signs and symptoms. Sometimes the associated genetic change can also give clues to the prognosis. The course and outcome of a condition depends on the availability and effectiveness of treatment and management tactics.
The prognosis of very rare diseases can be very difficult to predict because very little people who have the diseases are identified. Prognosis could also be difficult or near impossible to conclude if a person’s diagnosis is unknown. The prognoses of genetic disorders vary, often even among people with the same condition. Some genetic disorders cause physical and developmental problems that are so severe they are incompatible with life. These conditions may cause a miscarriage of the affected embryo or fetus, or the infant affected may be stillborn or die shortly after birth. People with less severe genetic conditions may live into childhood or adulthood but have a shortened lifespan due to health problems related to their disorder.
Genetic conditions with a milder course may be associated with a normal lifespan and few related health issues. The prognosis of a disease is based on probability, which means that it is likely but not certain that the disorder will follow a particular course. A healthcare provider is the best resource for information about the prognosis of a person’s specific genetic condition. He or she can assess the medical history and signs and symptoms to give their patient the most accurate estimate of your prognosis.
Human genetic studies revealed that Angelman Syndrome is caused by 4 molecular mechanisms:
- de novo maternal deletions of chromosome 15q11-q13,
- intragenic mutations in the maternally inherited UBE3A within chromosome 15q11-q13,
- paternal uniparental disomy (UPD) for chromosome 15q11-q13,
- or imprinting defects within chromosome 15q11-q13 that alter the expression of maternally inherited UBE3A.
