This is a rare neurodevelopmental disease that provokes developmental delays, intellectual disabilities, and speech and movement problems. This condition is called Angelman syndrome and the main cause is a problem with a gene (UBE3A). This problem occurs during fetal development.
What is Angelman Syndrome?
People with this condition experience nervous system problems provoked by an issue with the UBE3A gene. The body’s nervous system is very similar to the command center because it controls movements, thoughts, behaviors, automatic responses, and other processes. Check below the characteristics of the Angelman syndrome:
- Children from 6 to 12 months of age experience developmental delays.
- Intellectual disability
- Speech is very limited or even absent
- Seizures
Who Does Impact Angelman Syndrome?
Those children who experience this health condition are often excitable and have a typically happy attitude. Usually, they smile and laugh. The first who described this disease was Dr. Harry Angelman in 1965. Therefore, the condition is called after his name.
However, this is a rare condition that develops in a fetus and results from a sudden gene mutation. It means that Angelman syndrome is not an inherited disease and does not pass from biological parents to biological children. In addition, this condition impacts people assigned to male at birth (AMAB) equally as people assigned to female at birth (AFAB). Approximately, 1 in 12,000 to 20,000 people experience this condition.
Is Angelman Syndrome on The Autism Spectrum?
There are certain characteristics that can develop in both conditions (including developmental delay and speech problems). In any case, this health condition is not a part of the autism spectrum, meaning they are distinct health conditions.
Symptoms
This condition has different symptoms that fluctuate among people. For example:
Common Symptoms
- Learning disabilities
- Delayed development
- Speech problems or even no speech
- Difficulty walking (including clumsiness)
- Ataxia (impaired balance or coordination)
- Seizures
Facial Features
- Brachycephaly (a short and broad skull)
- Macroglossia (abnormal large tongue)
- Microcephaly (abnormally small head)
- Mandibular prognathia (big lower jaw)
- Wide mouth
- Widely spaced teeth
Symptoms Specific to Children
- Happy and excitable attitude
- Frequent smiling and laughing
- Frequent hand-flapping motions
- Hyperactivity
- Sleeping problems
- A fascination with water
As children grow, sleeping problems may improve and they become less excitable.
Causes
The primary Angelman syndrome cause is a gene mutation that happens early in fetal development before birth. A change in the sequence of the DNA is known as a genetic mutation. Thus, it is responsible for sending information to the cells that help to perform their function. In other words, a part of the DNA sequence is damaged or incomplete, which leads to this disease.
This gene (UBE3A) is inherited from both biological parents and it is present in different body tissues. However, a copy of this gene is localized in the brain and children get it from their mothers. In case the maternal copy of this gene is damaged or lost due to certain chromosomal changes or gene mutations, there is no copy of UBE3A remaining in certain parts of the brain. As a result, this gene issue causes Angelman syndrome.
In approximately 70% of cases, people experience this condition because this gene is inactive or missing. These gene mutations commonly happen spontaneously. Furthermore, in roughly 10%-15% of Angelman syndrome cases, physicians cannot identify the exact cause of this disease.
Diagnosis
Some characteristics of this health condition do not appear right after birth. In most cases, doctors diagnose this condition in a child between 1-4 years of age. However, the Angelman syndrome can be misdiagnosed as other medical conditions. Examples include:
- Cerebral palsy
- Autism spectrum disorder
- Mowat-Wilson syndrome
- Christianson syndrome
- Pitt-Hopkins syndrome
- Prader-Willi syndrome
- Phelan-McDermid syndrome
The only exact test that can confirm this health condition is a genetic test that determines changes that happen to the UBE3A gene.
Tests
In some cases, doctors diagnose this disease in young children. However, it is possible to confirm the Angelman syndrome before birth (prenatally).
Diagnosis of Angelman Syndrome Before Birth
Doctors can diagnose this condition before the baby is born. They commonly use a prenatal ultrasound that helps to check for fetal growth problems. Furthermore, noninvasive prenatal screening (NIPS) is a highly accurate test that can help to diagnose Angelman syndrome or other genetic abnormalities. NIPS analyzes certain fragments of the DNA that circulate in the pregnant female’s blood.
Diagnosis After Birth
Doctors commonly diagnose this condition in children between 1-4 years old because of developmental delays, intellectual disabilities, and other Angelman syndrome symptoms. They also perform different blood tests and send them to a laboratory for genetic tests. They look for chromosomes that are missing, changes in the child’s UBE3A gene, changes of the same gene in biological parents, and others.
Additionally, doctors may perform the following tests to check for complications or to help with the diagnosis. Examples include:
- Sleep study or polysomnography (sleep disorders are common in children with this health condition)
- Electroencephalogram or EEG (During this test, physicians record the child’s electrical signals of the brain)
Treatment
Unfortunately, there is no specific treatment for this condition. However, physicians can prescribe a treatment based on the symptoms. Moreover, early diagnosis and proper treatment can help the child to keep the highest quality of life. Check below the healthcare specialists that can be involved in the treatment:
- Pediatricians
- Neurologists
- Occupational and physical therapists
- Behavioral therapists
- Nutritionists
- Gastroenterologists
- Speech-language pathologists
The following medicines and procedures can be involved in the management of Angelman syndrome symptoms. For example:
- Use of the ankle or foot braces that help to walk.
- Physical therapy with posture and balance. This treatment method can relieve joint stiffness.
- Anticonvulsants or anti-seizure drugs
- Behavioral therapy, which helps sleep disorders
- Speech therapies and aids (including sign language, the use of special computer communication devices, and others). These therapies help to improve learning and social communication.
Unfortunately, there is no cure for this disease but a suitable treatment can help to relieve the symptoms and improve the children’s quality of life.
Frequently Asked Questions
Can Angelman syndrome be prevented?
However, you cannot prevent this condition because it occurs suddenly and randomly as an outcome of genetic mutation. Mostly, it is not known why it happens.
What is the life expectancy of someone with this health condition?
Commonly, the life expectancy appears nearly normal in those who suffer from Angelman syndrome. Consult with your doctor for more details.
When should my children see their healthcare professional?
Regular appointments with their doctor are recommended if your child was diagnosed with Angelman syndrome. Ask your healthcare professional if you have any other questions.
