Angelman Syndrome

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. It causes developmental disabilities and neurological problem such as difficulty speaking, balancing and walking and in some causes seizures.

angelman syndrome

 

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Angelman syndrome usually is not detected until parent’s starts notice developmental delays when baby is about 6 to12 months old. Seizures often begin when child is between 2 to 3 years old.
Causes of Angelman Syndrome

It is a syndrome caused by problems with a gene located on chromosome 15 called the ubiquitine-protein ligase E3A (UBE3A) gene.

Missing or defective gene:
Genes are segments of DNA which are responsible for all characteristics.When an individual receives genes, which occur in pairs are from parents; one copy comes from mother which is known as maternal copy and other from father which as known as parental copy both the genes in a pair usually are active. Cells use information from both the maternal and paternal copies, but in a small number of genes, only one copy of genes pair is active.

The activity of each gene copy depends on whether it was passed from father or mother. Parent specific gene activity is called “imprinting”. In case where the copy that is usually active is missing or defective causes problem in functions and characteristics controlled by that gene.

Normally, only the maternal copy of the UBE3A gene is active in the brain, caused by what’s known as genomic imprinting. Most cases syndrome occurs when part of the maternal chromosome 15, which contains this gene, is missing or damaged. In small number of cases, Angelman syndrome is caused when two paternal copies of the genes are inherited, instead of one paternal and one maternal copy (paternal uniparental disomy).

Angelman Syndrome Signs and Symptoms

• Small head size with flatness in the back of the head.
• Epilepsy (seizures)
• Sleep problem and a need for less sleep than their peers
• Tongue thrusting
• Strabismus
• Excitable personality
• Delayed motor development, such as delay in sitting, crawling and walking
• Speech problem
• Jerk, puppet type movements
• Stiff-legged walking style
• Hand flapping
• Hyperactive behavior
• Loving, happy and social demeanour
• A child easily moved to laughter.
• Intellectual delay.
• Light pigmentation in the hair skin and eyes.
• Movement or balance disorder.

Physical characters:
• Flattened back of the head
• Deep-set eyes
• Wide, ever-smiling mouth
• Prominent jaw and widely spaced teeth
• Lightly pigmented hair, skin and eyes.

Behavioral characters:
• Feeding difficulties
• Disturbed sleep
• Delayed toilet training.

Investigations for Angelman Syndrome

• Abnormal EEG tracing
• Chromosome size, shape and number
• Missing chromosomes
• Parental DNA pattern
• Gene mutation

How We Can Help Patient With Angelman Syndrome To Lead A Better Life ?

• Anti-epileptic Medication
• Speech therapy
• Behavior modification
• Communication therapy
• Occupational therapy
• Social skills training
• Physical therapy
• Special education

Prognosis of Angelman Syndrome

Person with almost spend a normal life span and generally do not shoe development regression with age. Adults are not usually able to live on their own but can learn basic household task. Early diagnosis,treatment and therapies helps to improve quality of life.

Diet / management of Angelman Syndrome

• Anticonvulsants medications
• Acupuncture and acupressure helps a bit in improvement process.
• Psychotherapy can help a child overcome hyperactivity and short attention span.
• Ketogenic diet is high-fat diet that carefully controls the amount of carbohydrates and proteins that helps a person with seizures.
• Genetic counseling
• Make the person work with a team
• Make person to connect with other families facing same problem which will help you to understand them better and on other hand they will learn lot more for peers.

Untreated Angelman Syndrome May Leads to

• Abnormal sleep-wake patterns
• Hyperactivity
• Feeding difficulties
• Obesity
• Curving of the spine

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