What Is Angelman Syndrome?

angelman-syndromeAngelman syndrome is a genetic disorder that causes developmental disabilities and neurological issues, such as challenges keeping balance, walking or difficulty speaking, in some cases, seizures occur. Frequent smiling or outburst of laughs are common for people with Angelman syndrome; many people have excitable and happy personalities.

Angelman syndrome is usually not noticed untile the parent detects delays in the development of mental and neuroglial skills when the baby is between 6 and 12 months old. Series often can begin when a child is between the age of 2 and three years old.

People with Angelman syndrome tend to live an average life span. However, they may become less excitable and develop sleep problems that may occur with age. Treatment focuses on managing developmental and medical issues.

Characteristics Angelman Syndrome Signs and symptoms include:

Developmental delays, such as lake of babbling and crawling in 6 to 12-month-olds, there may also be intellectual disabilities.
Lake of or minimal speech skills
Inability to walk or balance well (ataxia)
Frequent smiling and laughter
Excitable, happy personality

People who have Angelman syndrome may so have other sign sand symptoms including:

  • Tough Thrusting
  • Light pigmentation in hair, eyes (hypopigmentation) and skin
  • Tough thrusting
  • Small head size, with flatness in back of the head (acrobrachycephaly)
  • Unusual behaviors, such as hand-flapping and arms uplifted while walking
  • Stiff or jerky movements

uniparental-disomyWhen should you see a doctor

Most babies with Angelman syndrome do not show signs or symptoms of the disorder when they’re born. The first signs of Angelman syndrome are usually development delays, such as lack of babbling or crawling, between 6 and 12 months.

If your child seems to have developmental impediments or if your child has other signs or symptoms of Angelman syndrome, make an appointment with your child’s doctor.

Causes
Angelman syndrome is the genetic disorder, most often caused by problems with a gene located on chromosome 14 called the ubiquitin protein ligase E3A (UBE3A) gene.

A missing or defective gene
You receive your gene, which occurs in pairs, from you parents – one copy from your mother, and the other from the father (paternal copy).Your cells typically use information from both copies, buy in a small number of genes. One copy is active.

Normally, only the maternal copy of the UBE3A gene is active in the brain. Most cases of Angelman syndrome occur when part of the maternal copy is absent or damaged. IN a few cases, Angelman syndrome is caused when two paternal copies of the gene are inherited. Instead of one from each parent.

Risk Factors

Angelman syndrome is rare. In most cases, the researcher doesn’t know what causes the genetic mutations that result in Angelman syndrome. Most people with Angelman syndrome look not to have a family history of the disease.
In a small portion of cases, however, Angelman syndrome can be inherited from a parent, so a family history of the disease may raise a baby’s risk of forming Angelman syndrome.

Complications with Angelman syndrome

  1. Feeding difficulties. Unable to according sucking and swallowing may cause feeding problems during the infant’s early months. Your pediatrician may suggest a high-calorie formula to help your baby gain weight.
    Hyperactivity, Moving swiftly from one activity to another with low concentration and focus, and holding hands or a toy in their mouths may distinguish children with Angelman syndrome. Hyperactivity often declines with age and medication usually is not necessary.
    Sleep disorders, People with Angelman syndrome frequently have abnormal sleep-wake patterns and need less sleep than normal. In some cases, sleep difficulty may improve with age. Medication and behavior therapy may help sleep disorders.
    Curving of the spine (scoliosis) Some people with Angle syndrome develop abnormal side to side spinal curvature over time.
    Obesity. Order children with Angelman syndrome tend to have large appetites, which may lead to obesity.
  2. Test and Diagnosis Angelman Syndrome if your child has developmental delays and other signs and symptoms of the disorder, such as problems with mobility and balance, small head size, flatness in the back of the head, and frequent laughter.
  3. Confirming a diagnosis of Angelman syndrome requires taking a blood sample from your child for genetic studies. A mixture of a genetic test can reveal the chromosome defects related to Angelman syndrome. Tese test may look at:
  4. Parental DNA pattern. This test, known as a DNA methylation test, screens for three of the four identified genetic mechanisms that trigger Angelman syndrome.
    Missing chromosomes, Either a fluorescence in situ hybridization (FISH) test or a comparable genomic hybridization test (CGH) can show if portions of chromones are missing
    Gene mutation, Rarely, Angelman syndrome may occur when a person’s maternal copy of the UBE3A gene is active, but mutated. If results may order a UBE3A gene sequencing test to look for a maternal mutation.

Treatment and Drugs Angelman Syndrome

There’s no cure for Angelman syndrome; Research is focusing on targeting particular genes for treatment. For now, treatment focuses on controlling the medical and development issues.
A team of health care professionals will probably work with you to manage your child’s condition. Depending on your child’s signs and symptoms treatment for Angelman syndrome may consists of:

Anti-seizure medication to control seizures
Physical therapy to assist with walking and movement problems
Communication therapy, which may incorporate sign language and picture communication.
Behavior therapy to help overcome hyperactivity and short attention span and to aid in development.

Prevention
In rare cases, Angelman syndrome may be passed from affected parent to child through defective genes, If you are concerned about a family history of Angelman syndrome, or if you already have a child with Angelman synform, consider talking to your doctor or a genetic consumer for help planning future pregnancies.