Angelman Syndrome has confounded and confused the medical community and parents of Angelman individuals for hundreds of years. Initially presumed to be rare, it’s now believed thousands of Angelman Syndrome cases have gone undiagnosed or misdiagnosed as cerebral palsy, autism or other childhood disorders.
The first glimmer of hope for diagnosis, and ultimately care and treatment of Angelman Syndrome came as a result of the work and research of Dr. Harry Angelman in 1965.
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome (AS). He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published but the condition was considered to be extremely rare and many physicians doubted its existence. The first reports from North America appeared in the early 1980s and within the last ten years many new reports have appeared . Dr. Angelman relates the following regarding his discovery of this syndrome.
“The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelman syndrome is one such story. It was purely by chance that nearly thirty years ago three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities and although, at first sight, they seemed to be suffering from different conditions, I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because, in spite of technical investigations which today are more refined, I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy I happened to see an oil painting in the Castelvecchio museum in Verona called . . . a Boy with a Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children. It was not a name that pleased all parents but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome. This article was published in 1965, and after some initial interest, lay almost forgotten until the early eighties.
Clinical Features
Developmental and physical features
Angelman syndrome is usually not recognized at birth or in infancy since the developmental problems are nonspecific during this time. Parents may first suspect the diagnosis after reading about AS or meeting a child with the condition. The most common age of diagnosis is between three and seven years when the characteristic behaviors and features become most evident. A summary of the developmental and physical findings has recently been published (21) for the purpose of establishing clinical criteria for the diagnosis and these are listed below. All of the features do not need to be present for the diagnosis to be made, and the diagnosis is often first suspected when the typical behaviors are recognized.
Developmental History and Laboratory Findings:
Consistent (100%)
The first glimmer of hope for diagnosis, and ultimately care and treatment of Angelman Syndrome came as a result of the work and research of Dr. Harry Angelman in 1965.
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome (AS). He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published but the condition was considered to be extremely rare and many physicians doubted its existence. The first reports from North America appeared in the early 1980s and within the last ten years many new reports have appeared . Dr. Angelman relates the following regarding his discovery of this syndrome.
“The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelman syndrome is one such story. It was purely by chance that nearly thirty years ago three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities and although, at first sight, they seemed to be suffering from different conditions, I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because, in spite of technical investigations which today are more refined, I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy I happened to see an oil painting in the Castelvecchio museum in Verona called . . . a Boy with a Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children. It was not a name that pleased all parents but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome. This article was published in 1965, and after some initial interest, lay almost forgotten until the early eighties.
Clinical Features
Developmental and physical features
Angelman syndrome is usually not recognized at birth or in infancy since the developmental problems are nonspecific during this time. Parents may first suspect the diagnosis after reading about AS or meeting a child with the condition. The most common age of diagnosis is between three and seven years when the characteristic behaviors and features become most evident. A summary of the developmental and physical findings has recently been published (21) for the purpose of establishing clinical criteria for the diagnosis and these are listed below. All of the features do not need to be present for the diagnosis to be made, and the diagnosis is often first suspected when the typical behaviors are recognized.
Developmental History and Laboratory Findings:
- Normal prenatal and birth history with normal head circumference; absence of major birth defects
- Developmental delay evident by 6 - 12 months of age
- Delayed but forward progression of development (no loss of skills)
- Normal metabolic, hematologic and chemical laboratory profiles
- Structurally normal brain using MRI or CT (may have mild cortical atrophy or dysmyelination)
Consistent (100%)
- Developmental delay, functionally severe
- Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
- Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
- Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span
- Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2
- Seizures, onset usually < 3 years of age
- Abnormal EEG, characteristic pattern with large amplitude slow-spike waves
- Strabismus
- Hypopigmented skin and eyes
- Tongue thrusting; suck/swallowing disorders
- Hyperactive tendon reflexes
- Feeding problems during infancy
- Uplifted, flexed arms during walking
- Prominent mandible
- Increased sensitivity to heat
- Wide mouth, wide-spaced teeth
- Sleep disturbance
- Frequent drooling, protruding tongue
- Attraction to/fascination with water
- Excessive chewing/mouthing behaviors Flat back of head