All you need to know about Angelman syndrome.
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What is Angelman syndrome?
Angelman syndrome (AS) is a rare neurogenetic condition that exists in 500,000 individuals worldwide or in one in 15,000 live births. It is caused by a lack of activity in the mother-derived 15th chromosome of the UBE3A gene.
Angelman syndrome shares the signs and features of autism, cerebral palsy, and Prader-Willi syndrome among other conditions. Misdiagnosis also happens due to common characteristics.
People with AS have developmental disorders that become evident by the age of 6–12 months. Other typical signs and symptoms, such as walking and balancing disabilities, stomach complications, epilepsy and little or no speech, usually occur in early childhood. Despite these signs, there is a general happy and excitable personality in persons with Angelman syndrome. With their smile and laughter, a person with AS can light up a room.
History of Angelman Syndrome:
Dr. Harry Angelman, an English surgeon at Warrington General Hospital, first described Angelman syndrome.
Three infants who were unrelated but displayed common signs of extreme intellectual delay, stiff, jerky gait, loss of voice, epilepsy, motor problems and a happy mood were first noticed by Dr. Angelman.
Kid with a drawing of a marionette
Then, while on holiday in Italy, he saw an oil painting by the Renaissance artist Giovanni Francesco Caroto at the Castelvecchio Museum in Verona, named… A Child with a Puppet. “Reminded of the kids, in 1965, Dr. Angelman published a paper describing what he called “puppet kids.
It was not until 1982, when a paper was presented to the American Journal of Medical Genetics by Dr. Charles Williams and Dr. Jaime Frias of the Department of Pediatrics, Division of Genetics, University of Florida College of Medicine, Gainesville, documenting observations of six patients and matching their data with those from previous reports-severe developmental delay, “puppet-like” gait, craniofacial abnormality. They suggested changing the name of this condition to Angelman Syndrome.
Dr. Williams began the Angelman Research Group (ARG) in 1986 to promote AS research and education. The ARG became the Angelman Syndrome Foundation a couple years later, in 1990.
What are the causes of Angelman syndrome?
The parents of the infant do not have the disorder in most forms of Angelman syndrome and the genetic difference responsible for the syndrome arises by chance at the time of conception.
Typically, Angelman syndrome develops when the gene known as UBE3A is either absent or not functioning properly. A gene is a single genetic material (DNA) unit that serves as an instruction for the manner in which a person is created and grows.
Most forms of Angelman syndrome are caused by the infant not having a mother’s copy of the UBE3A gene, or the gene not functioning. This means that in the child’s brain, there is no working copy of the gene.
Angelman syndrome develops in a limited number of occasions where an infant gets 2 copies of the gene from their father, rather than 1 from each parent.
The cause of Angelman’s syndrome is often unclear. Some infants have various disorders affecting other genes or chromosomes in these unexplained situations.
What are the symptoms of Angelman syndrome?
At around 6 to 12 months of age, an infant with Angelman syndrome will begin to exhibit symptoms of slowed growth, such as being unable to sit unsupported or making babbling noises.
They may not talk at all later on or may only be able to utter a few sentences. However, using gestures, signals or other systems, most children with Angelman syndrome may be able to communicate.
It can also affect the movement of an infant with Angelman’s syndrome. Owing to difficulties with posture and mobility, they can have trouble walking (ataxia). Their arms may tremble or make jerky gestures, and they may have rigid legs.
Angelman syndrome is synonymous with many distinctive behaviours. They include:
- Laughing and laughing often, and with no stimulation
- Being excitable quickly, sometimes flapping hands
- Restlessness (hyperactive)
- Having a short period of attention
- Sleeping issues and having less time than most kids
- A specific obsession with water
- A narrow head that is smooth at the back (microbrachycephaly) can be evident in certain children with Angelman syndrome at about 2 years of age. Around this age, children with Angelman syndrome can also tend to have seizures or fits.
Some probable syndrome characteristics include:
- The propensity to hold out the tongue
- Eyes crossed (strabismus)
- Skin, hair and eyes, which are paler than other members of the family
- A wide mouth with broadly spaced teeth
- A side-to-side bend of the spine (scoliosis)
- Walking with arms in the air
- Any young babies with Angelman syndrome can have difficulty eating because sucking and swallowing can not be synchronised. A high-calorie food could be prescribed to help the baby gain weight in such situations. Babies with Angelman’s syndrome may require reflux medication.
What are the risk factors of Angelman syndrome?
Angelman’s disease is unusual. Typically, researchers do not know what causes the genetic alterations that occur in Angelman syndrome. Many persons with Angelman’s syndrome have no family history of the condition.
Angelman syndrome can sometimes be inherited from a parent. A family history of the disorder can raise the risk of developing Angelman syndrome in an infant.
What are the complications of Angelman syndrome?
Angelman syndrome-related complications include:
Coordinating sucking and swallowing difficulties can cause feeding problems in infants. A high-calorie formula may be prescribed by your paediatrician to help your baby gain weight.
Children with Angelman syndrome frequently run rapidly, have a low attention span, and hold their hands or a toy in their mouths from one thing to another. With age, hyperactivity sometimes reduces, and treatment is typically not required.
People with Angelman syndrome often have irregular cycles of sleep-wake and can need less sleep than other individuals. With age, sleep problems can increase. Sleep problems can be regulated by medicine and behaviour therapy.
The Spine Curvature (scoliosis).
With time, most persons with Angelman syndrome develop an irregular side-to-side spinal curvature.
Older kids with Angelman syndrome appear to have wide appetites, which may add to obesity.
How is Angelman syndrome diagnosed?
Angelman syndrome can be assumed if the growth of an infant is delayed and they have the characteristic features of the syndrome.
For proof of a diagnosis, a blood test is used. On the blood sample, multiple genetic studies can be performed. Such studies scan for:
Any missing chromosomes or fragments of chromosomes
Changes to the UBE3A gene of the mother or father that they may have passed on
Changes in the UBE3A gene of the infant which would stop it from functioning
It’s important to know the genetic alteration that triggered the disease for each child with Angelman syndrome. This helps you decide whether there’s a risk that you could have another Angelman syndrome child.
When physical and behavioural signs become evident, most children with Angelman syndrome are diagnosed from the ages of 9 months to 6 years.
When your child is diagnosed with Angelman syndrome, you will be able to explore the help they may need with a genetic doctor.
What is the treatment for Angelman syndrome?
Any of the following therapies and aids could help ease the symptoms as there is no exact cure.:
- Anti-epileptic medicine and seizure control
- Physiotherapy can strengthen posture, coordination and walking ability; as individuals with Angelman syndrome grow older, it is often important to reduce permanent joint stiffening.
- Communication therapy may help them improve non-verbal language abilities, such as sign language and the use of visual aids; it can also help them to use iPad apps and related tablet computers.
- Behavioral treatment, such as hyperactivity and a poor attention span, can be prescribed to better resolve habits you find impossible to control.
The seizures normally increase in later adolescence, but they can return in adulthood. People with Angelman’s syndrome become less hyperactive with age and can sleep well.
During their lives, most people with the condition may have intellectual difficulties and restricted vocabulary. Any mobility can be lost in adults and joints may stiffen.
People typically have improved general health with Angelman syndrome and are also able to develop their interactions and learn new skills.
Although there is currently no cure for Angelman syndrome, in other countries, testing is being conducted on therapies. There are also research trials looking into medication, such as epilepsy, with any of the signs associated with Angelman syndrome.
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