Angleman syndrome

Angelman syndromeDescription, Causes and Risk Factors:Angelman syndrome is a genetic disorder that causes developmental disabilities and neurological problems, such as difficulty speaking, balancing and walking and, in some cases, seizures. Frequent smiles and outbursts of laughter are common for people with Angelman syndrome, and many have happy, excitable personalities.Angelman syndrome usually is not detected until parents begin to notice developmental delays when a baby is about 6 to 12 months old. Seizures often begin when a child is between 2 and 3 years old.People with Angelman syndrome tend to live a normal life span, but they may become less excitable with age. Treatment for Angelman syndrome focuses on managing the child's medical and developmental problems.Angelman syndrome is caused by a genetic mutation on chromosome 15. The name of this gene is UBE3A. Normally, people inherit one copy of the gene from each parent, and both copies become active in many areas in the body. Angelman syndrome occurs when only one copy of the gene is active in certain areas of the brain.There are no known risk factors for Angelman syndrome. In some cases, a family history may increase the chances of a baby having the disorder but the disease is rare, occurring in just 1 of every 10,000 people. If you already have a child with Angelman syndrome or are concerned about a family history, talking with your doctor or a genetic counselor may be helpful.Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.Angelman syndromeSymptoms:Angelman syndrome signs and symptoms include:Developmental delays, such as lack of crawling or babbling at 6 to 12 months, and intellectual disability.Lack of or minimal speech.
  • Inability to walk, move or balance well (ataxia).
  • Trembling movement of arms and legs.
  • Frequent smiling and laughter.
  • Happy, excitable personality.
  • People who have Angelman syndrome may also have other signs and symptoms, including:
Seizures, usually beginning between 2 and 3 years of age:Stiff or jerky movements.
  • Small head size, with flatness in the back of the head (microbrachycephaly).
  • Crossing of the eyes (strabismus).
  • Tongue thrusting.
  • Walking with arms up in the air.
  • Light pigmentation in hair, skin and eyes (hypopigmentation).
Diagnosis:The diagnosis of angelman syndrome is based on:A history of delayed motor milestones and then later a delay in general development, especially of speech.
  • Unusual movements including fine tremors, jerky limb movements, hand flapping and a wide-based, stiff-legged gait.
  • Characteristic facial appearance (but not in all cases).
  • A history of epilepsy and an abnormal EEG tracing.
  • A happy disposition with frequent laughter.
  • A deletion or inactivity on chromosome 15 by array comparative genomic hybridization (aCGH) or by BACs-on-Beads technology.
  • Diagnostic criteria for the disorder were initially established in 1995 in collaboration with the Angelman syndrome Foundation (USA);these criteria have undergone revision in 2005.
Treatment:There is currently no cure available. The epilepsy can be controlled by the use of one or more types of anticonvulsant medications. However, there are difficulties in ascertaining the levels and types of anticonvulsant medications needed to establish control, because AS is usually associated with having multiple varieties of seizures, rather than just the one as is normal cases of epilepsy. Many families use melatonin to promote sleep in a condition which often affects sleep patterns. Many individuals with Angelman Syndrome sleep for a maximum of 5 hours at any one time. Mild laxatives are also used frequently to encourage regular bowel movements and early intervention with physiotherapy is important to encourage joint mobility and prevent stiffening of the joints. Occupational therapy, speech therapy, hydrotherapy and music therapy are also used in the management of this condition.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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