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Angelman syndrome is an uncommon genetic disorder that affects the neurological system and results in significant physical and cognitive impairments. It results from problems with a particular gene called UBE3A that occurs during fetal development.
The life expectancy of someone with Angelman syndrome is almost normal, but they require assistance their entire lives. This disorder, sometimes known as "Happy Puppet Syndrome," is distinguished by inappropriate laughing, ataxia, seizures, aberrant EEG results and intellectual incapacity. AS is uncommon, affecting roughly 1 in 12,000 to 20,000 individuals.
Angelman Syndrome: What is it, and what causes it?
The rare genetic and neurological condition known as AS causes severe developmental delays and learning disabilities.
It also causes trembling with twitchy movement patterns of the arms and legs and a distinctive behavioral pattern that includes uncontrollable bursts of laughter and smiles. Angelman syndrome can also cause ataxia and inability to coordinate voluntary muscle movement.
Even though people with the condition might not be able to speak, many eventually pick up other forms of communication, like pointing. Children may also have sufficient receptive language skills to comprehend basic language communication. Seizures, sleep issues and feeding issues are possible additional symptoms. Although most facial features in children with Angelman syndrome resemble those of their parents', some of these youngsters may have unusual facial features.
Early on in life, it can be particularly challenging to distinguish between AS and autism spectrum disorder, as they both share traits including speech difficulties and developmental delays.
Two sets of chromosomes are passed down to a child—one from each parent. As a result, each parent gives a single copy of the UBE3A gene found on chromosome 15 to each child. Both these copies become active in various parts of the body.
Just a copy of the gene inherited from the mother is activated in certain regions of the brain. A person will not have any functional copies of this gene in certain regions of their brain if it's absent, altered or mutated. They won't have quite enough UBE3A protein in their brain.
Signs & symptoms of Angelman syndrome
About 6 to 12 months of age, a child with AS starts exhibiting developmental delays like being unable to sit unaided or making babbling noises. Later, kids would only be able to utter a few words or not at all. Yet, most kids with Angelman syndrome are capable of expressing themselves through gestures, signs or other means.
A youngster with Angelman syndrome can also have difficulty moving. Individuals could struggle to walk as a result of balance and coordination problems (ataxia). Their knees might be rigid, and their arms might shake or move jerkily. Typical signs and symptoms of AS include the following:
- Hyperactive conduct
- A kind, joyful and sociable disposition
- Severe intellectual incapacity
- Delayed motor development, including difficulty crawling, sitting and walking
- Speech issues or lack of speaking
- Issues with coordination and balance (ataxia)
- Puppet-like motions
- Stiff-legged gait pattern
- Palm flapping
How is Angelman syndrome treated?
Although there's no specific treatment for AS, your child can gain from a variety of therapies for specific symptoms.Treatment options include: Speech therapy, behavior modification, communication therapy, occupational therapy, physical therapy, special education, social skills training and anti-epileptic drugs.
The seizures typically stop in later childhood, but they can return to maturity. Individuals with Angelman syndrome may sleep better as they get older and become less energetic.
Most of those with the condition struggle with learning disabilities and speech impairment throughout their lives. Adults may experience some loss of mobility and stiffening of the joints. Most of those with AS are in good overall health and can frequently develop new abilities and enhance their communication.
Most infants with Angelman syndrome are born with no indications or symptoms. Between the ages of six and 12 months, developmental impairments, including a lack of crawling or chattering, are frequently the first indicators of AS.
Rarely, a child with AS may inherit their genetic defects from an affected parent. Consider consulting your doctor or a genetic counselor for assistance in planning future pregnancies if you have concerns about the familial history of AS or if you have a child who has the condition. Schedule a visit with your primary care doctor to see if your youngster exhibits any developmental delays or other Angelman syndrome symptoms.
Janvi Kapur is a counselor with a Master's degree in applied psychology with a specialization in clinical psychology.
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