- by Dr Reginald Varadarajulu Vsm
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- Apr 28 2018
Angelman Syndrome: Symptoms and Causes
It is also known as happy puppet syndrome. It is a rare neuro-genetic disorder that occurs in one in 15,000 live births.
It is usually caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene.
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 missing or damaged.
Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months.
Seizures often begin between 2 and 3 years of age.
- Lack cooing or babbling
- Inability to support one’s head, pull oneself up to stand and delayed motor skills.
Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display the following that can have severe functional deficits:
- Small head size
- Sleep disorders
- Movement and balance disorders
Some individuals with Angelman Syndrome are misdiagnosed as having autism, pervasive developmental disorder, or cerebral palsy.
- DNA methylation testing will identify 80% of individuals with Angelman Syndrome.
- Fluorescent in situ hybridization (FISH) or comparative genomic hybridization can detect the characteristic deletion of chromosome 15q11-q13 in cells of the body.
There is no cure for AS. Research is focusing on targeting specific genes for treatment. Current treatment focuses on managing the medical and developmental issues.
A team of healthcare professionals will likely work with you to manage child’s condition. Depending on child’s signs and symptoms, treatment for Angelman Syndrome may involve:
- Anti-seizure medication to control seizures
- Physical therapy to help with walking and movement problems
- Communication therapy, which may include sign language and picture communication.
- Behaviour therapy to help overcome hyperactivity and a short attention span and to aid in development.
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