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Angelman syndrome is a hereditary disorder characterized by various symptoms including intellectual disability, developmental delays, speech impairment, movement and balance difficulties, and occasional seizures. Individuals with Angelman syndrome often exhibit a cheerful and lively demeanor, frequently expressing smiles and laughter. The condition typically presents with developmental delay that become evident around 6 to 12 months of age, while seizures may begin between 2 and 3 years old. Angelman syndrome is considered rare, affecting approximately 1 in 12,000 to 20,000 individuals.
While there is currently no cure for Angelman syndrome, it is important to note that individuals affected by this condition generally have lifespans that are similar to those without the syndrome. Management of medical, sleep, and developmental concerns is the main emphasis of treatment.
Symptoms
Here are several signs and symptoms commonly associated with Angelman syndrome:
- Impaired intellectual capacity
- Delays in development, such as failure to babble or crawl by 6 to 12 months
- Inability to speak or speaks very few words
- Trouble moving, balancing, or walking
- Problems with feeding or sucking
- Difficulty falling and staying asleep
- Regular giggling and smiling
- Happy and lively personality
The following characteristics may also be present in those with Angelman syndrome:
- Movements become jerky or stiff
- Sticking out of the tongue
- Seizures, which often start between the ages of 2 and 3
- The back of the head appears flat and the size is smaller
- Light colored eyes, hair, and skin
- Issues in sleeping
- Having scoliosis or curving of the spine
- Strange actions, such as walking with arms raised and hands flapping
The majority of newborns with Angelman syndrome don’t exhibit any signs or symptoms. The absence of crawling or babbling between the ages of 6 and 12 months is typically one of the first indicators of Angelman syndrome.
If you observe any developmental delays or notice additional symptoms associated with Angelman syndrome in your child, it is advisable to schedule an appointment with your healthcare provider.
Causes
Angelman syndrome is a genetic disorder caused by a mutation in the UBE3A gene, a ubiquitin protein ligase E3A gene located on chromosome 15. This mutation is primarily responsible for the development of Angelman syndrome.
A missing or defective gene
Your parents give you two sets of genes: a maternal copy (from your mother) and a paternal copy (from your father).
The information in both copies is normally used by your cells, but in a limited number of genes, only one copy is functional.
In the brain, the UBE3A gene normally exclusively expresses activity in the maternal copy. The majority of Angelman syndrome cases involve missing or damaged maternal copies.
When two paternal copies of the gene, rather than one from each parent, are inherited, it can occasionally lead to Angelman syndrome.
Risk factors
Angelman syndrome is considered a rare genetic disorder, and in many cases, the specific cause of genetic abnormalities remains unknown. Most individuals diagnosed with Angelman syndrome do not have a family history of the condition. However, there are rare instances where a parent with Angelman syndrome can pass it down to their child. A family history of the syndrome may increase the likelihood of a baby developing Angelman syndrome, but such occurrences are uncommon.
Diagnosis
If your child displays additional symptoms such as seizures, difficulties with mobility and balance, a smaller head size, a joyful disposition, and significant delays in development, especially in language skills, your child’s doctor may suspect Angelman syndrome.
Tests
A blood test almost always yields a conclusive diagnosis. This genetic examination can find chromosomal abnormalities in your child that point to Angelman syndrome.
The chromosome abnormalities linked to Angelman syndrome can be identified using a combination of genetic tests. These exams could examine:
- DNA pattern of the parents. Three of the four known genetic disorders that cause Angelman syndrome are screened for by this test, known as a DNA methylation test.
- Gene mutation. Rarely, a person’s maternal copy of the UBE3A gene may be active but mutated, resulting in Angelman syndrome. A UBE3A gene sequencing test to check for a maternal mutation may be prescribed by your child’s doctor if the findings of a DNA methylation test are normal.
- Missing chromosomes. If any chromosomes are missing, a chromosomal microarray (CMA) can demonstrate this.
Treatment
Currently, there is no known cure for Angelman syndrome. Ongoing research is focused on targeting specific genes for potential treatments. The current approach to therapy revolves around addressing and managing the medical and developmental challenges associated with the syndrome. Typically, you will work closely with a multidisciplinary team of medical specialists to develop a comprehensive treatment plan for your child. The treatment options for Angelman syndrome will depend on the specific signs and symptoms your child experiences and may include:
- Communication and speech therapy, involves picture-based and sign language communication
- Physical therapy assists with mobility
- Behavior therapy assists development by overcoming hyperactivity and a lack of focus
- Anti-seizure medication to manage seizures
- Medications and sleep training to solve sleep problems
- Dietary changes and medications aids with digestive problems include eating problems and constipation
