.png)
Angelman syndrome is a hereditary condition. It causes developmental delays, speech and balance issues, intellectual disabilities, and, in rare cases, seizures.
Angelman syndrome patients usually grin and laugh, and they have joyful, energetic dispositions.
Angelman syndrome commonly manifests itself as developmental delays between the ages of 6 and 12 months. Seizures might start between the ages of two and three.
Angelman syndrome patients have a normal life expectancy, however the illness cannot be treated. Medical, sleep, and developmental concerns are addressed in treatment.
WHAT ARE THE SYMPTOMS OF ANGELMAN SYNDROME?
Angelman syndrome symptoms and indicators include:
Developmental delays, including no crawling or babbling between the ages of 6 and 12 months
Intellectual handicap
There will be no or very little speaking.
Difficulties sucking or feeding
Having difficulty falling and staying asleep
Difficulties walking, moving, or balancing
Smiling and laughing frequently
A cheerful, energetic personality
WHAT ARE THE CAUSES OF ANGELMAN SYNDROME?
Angelman syndrome is a hereditary condition. It is generally caused by issues with the ubiquitin protein ligase E3A (UBE3A) gene on chromosome 15.
A gene that is absent or defective
Your parents give you two copies of your DNA, one from your mother (maternal copy) and the other from your father (paternal copy) (paternal copy).
Your cells normally use information from both copies, although only one copy of a few genes is active.
Only the maternal copy of the UBE3A gene is normally activated in the brain. The majority of Angelman syndrome instances arise when a portion of the maternal copy is absent or damaged.
Angelman syndrome is created in a rare situations when two paternal copies of the gene are inherited instead of one from each father.
WHAT ARE THE RISK FACTORS FOR ANGELMAN SYNDROME?
Angelman syndrome is uncommon. Typically, researchers do not know what causes the genetic alterations that result in Angelman syndrome. The majority of patients with Angelman syndrome have no family history of the condition.
Angelman syndrome can be inherited from either parent. Angelman syndrome is more likely in babies who have a family history of the condition.
WHAT ARE THE COMPLICATIONS OF ANGELMAN SYNDROME?
Angelman syndrome complications include the following:
- Difficulties with feeding: Feeding issues in babies can be caused by difficulties synchronizing sucking and swallowing. To help your baby gain weight, your physician may suggest a high-calorie formula.
- Hyperactivity: Angelman syndrome children frequently switch from one task to another, have a short attention span, and keep their hands or a toy in their mouths. Hyperactivity generally fades with age, and medication is rarely required.
- Sleep problems: Angelman syndrome patients frequently have irregular sleep-wake rhythms and may require less sleep than the general population. Sleep problems may improve with age. Sleep disturbances may be controlled with medication and behavioral treatment.
- The spine's curvature (scoliosis): Over time, some patients with Angelman syndrome acquire an irregular side-to-side spine curvature.
- Obesity: Older children with Angelman syndrome have a voracious appetite, which can progress to obesity.
WHAT ARE THE TREATMENTS FOR ANGELMAN SYNDROME?
If your kid shows developmental delays, notably little or missing language, as well as other indications and symptoms of the disease, such as seizures, mobility and balance issues, a small head size, and a pleasant temperament, your doctor may consider Angelman syndrome.
Tests
A blood test nearly usually provides a definite diagnosis. This genetic testing can detect chromosomal abnormalities in your kid that indicate Angelman syndrome.
Angelman syndrome chromosomal abnormalities can be discovered using a combination of genetic testing. These examinations may include:
- Parental DNA pattern: This DNA methylation test looks for three of the four genetic defects that underlie Angelman syndrome.
- Missing chromosomes: A chromosomal microarray (CMA) may detect missing chromosome segments.
- Gene mutation: Angelman syndrome can emerge in rare cases when a person's maternal copy of the UBE3A gene is activated but mutated. If your child's DNA methylation test findings are normal, your doctor may conduct a UBE3A gene sequencing test to search for a maternal mutation.
WHAT ARE THE TREATMENTS FOR ANGELMAN SYNDROME?
Angelman syndrome has no known treatment. Targeting specific genes for therapy is the subject of research. The current therapy focuses on medical and developmental difficulties.
To manage your child's illness, a multidisciplinary team of health care specialists will most likely collaborate with you. Angelman syndrome therapy may include the following, depending on your child's signs and symptoms:
- Anti-seizure medication for controlling seizures
- Physical therapy to assist with walking and mobility issues
- Speech and communication treatment, which may involve sign language and picture communication
- Behavior therapy to aid in growth and overcome hyperactivity and a short attention span
- To address sleep problems, medications and sleep training are used.
- Changes in diet and drugs can assist with gastrointestinal disorders including eating difficulty and constipation.