First discovered by Dr. Harry Angelman in 1965, it was later found in 1987 that children with this disorder had part or all of chromosone 15 missing, and it is now thought that 1 out of every 25, 000 children have this disease.
Children with Angelman Syndrome have certain traits including:
· Delayed motor functioning development and a delay of general development, particularly in the area of speech · tremors, jerky limb movements, hand flapping and a wide-based, stiff-legged gait. · Distinctive facial characteristics · Epilepsy and abnormal eeg reports · Happy disposition, laughing recurrently · No chromosone 15 · abnormal functioning of genes on the chromosone 15. · Feeding problems and poor weight gain · Delay in sitting and walking · Absent speech · Poor attention span and hyperactivity · Severe learning disabilities · Epilepsy and an abnormal EEG · fine tremors, hand flapping, jerky movements · Affectionate nature and frequent laughter · Wide-based stiff-legged gait · Below average head size, often with flattening at the back · wide, smiling mouth, prominent chin, thin upper lip, deep set eyes, tendency to hold tongue between the lips) · Fair hair and blue eyes · Poor sleeping pattern · Squint · Scoliosis
Favorite pastimes would include playing with plastic, balloons, photographs, musical toys, noisy items, television and videos. Sociable and affection, these children do not directly interact with other people. Stubbornness reigns, and hair pulling, biting, mouthing and chewing are behavioral problems parents find raising a child with this disorder. Naturally inquisitive, they have no inkling for danger, placing themselves in harms way without thinking or knowing they have.
Even though incurable, treatment can include anti-convulsant medication, physical therapy, occupational therapy, speech therapy, hydrotherapy and music therapy can greatly help assist in coping with the characteristics of AS.
About 60% AS children have less pigment in their skin, hair and eyes than normal and fair hair and blue eyes are commonly seen. The skin is pale and burns easily on exposure to sunlight. The lack of pigment is particularly obvious when looking at the back of the eye and can lead to visual problems such as squinting, roving eye movements and poor eyesight. The impairment is usually mild and it is unusual for an AS child to have severe visual problems.
