Angelman syndrome (AS) is a rare neuro-genetic disorder that is predominantly caused by deletions on chromosome 15 given by the mother (70-75% of cases). Other classes of AS that also lead to the typical clinical features of the syndrome are: 1) unusual chromosome rearrangements (2%), 2) inheritance of two paternal 15's and no maternal 15 present (4%), 3) mutation in the Imprinting center or UBE3A gene (3-5%), and 4) unknown causes (15%). Currently, it is estimated that the incidence of AS is somewhere between 1 in 15,000 to 1 in 30,000, and the greatest majority of cases are of Caucasian origin. Males and females are affected equally.
The discovery of Angelman syndrome, which was first described in 1965, was by an English physician named Dr. Harry Angelman. Dr. Angelman explains:
"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."
Features and Characteristics
AS is commonly diagnosed between ages three and seven years, when the characteristic behaviors and features are more evident. Following is a list of clinical features that you may find in a child with AS, and the percentage of children who show each particular characteristic:
- Severe developmental delay (100%)
- Minimal use of words or nonverbal; receptive skills higher than expressive skills (100%)
- Movement or balance disorder including, wide based gait with feet turned outward, tremulous movement of limbs, and uncoordinated movements (100%)
- Behavioral uniqueness such as frequent laughter or smiling, happy demeanor, easily excitable often with hand flapping movements, hypermotoric behavior (can be seen in infants as ceaseless activity), and a short attention span (100%)
- Microcephaly by age 2 (>80%)
- Seizures of any type by age 3 years (>80%)
- Abnormal EEG (>80%)
- Strabismus (20-80%)
- Tongue thrusting and suck and swallow disorders (20-80%)
- Feeding problems in infancy (20-80%)
- Hypopigmented skin and eyes (20-80%)
- Hyperactive tendon reflexes (20-80%)
- Uplifted arms when walking (20-80%)
- Prominent mandible (20-80%)
- Wide mouth/wide spaced teeth (20-80%)
- Protruding tongue and frequent drooling (20-80%)
- Excessive chewing/mouthing behaviors (20-80%)
- Sleep disturbance (20-80%)
- Fascination with water (20-80%)
- Flat back of head (20-80%)
Severe Developmental Delay
There is no cure for Angelman syndrome, however, the condition is not progressive and skills slowly continue to be acquired throughout the individuals life. Since mental retardation occurs in all individuals with AS, it is imperative that the child with AS receives all available educational and therapeutic resources. Physical therapy (for balance and other gross motor delays), occupational therapy (for fine motor and oral-motor control), and speech therapy (for nonverbal methods of communication) are all common necessities for the child with AS. Placement in the school system is usually at a school for children with severe disabilities, however, some children can be mainstreamed with assistance. Behavior modification at school and home can enable the child to become toilet-trained, and to perform self help skills such as eating and dressing.
The individual with AS first displays behavioral uniqueness in early infancy, where feeding problems and poor sleeping patterns may occur. Typically, the child with AS requires less sleep than that of a typical child. These children are usually very happy and sociable; laughter comes with little provocation or may occur in situations in which others do not find humorous. They are affectionate children and enjoy being around other people, although they tend not to interact with them directly. Children with AS prefer "rough and tumble" games and have a fascination with water. Some of the things these children also enjoy are plastic items, balloons, noisy or musical toys, photographs and television. Other behavioral features may include hair pulling, biting, mouthing, and chewing. In addition, their curious nature, combined with impaired cognition, can lead to danger and, therefore, children with AS must be watched very carefully.
Absence of Speech
Individuals with AS all have problems with speech. The majority of children have no speech at all or say less than three words. Many children, however, will learn to communicate by other methods such as sign language, communication devices, matching of pictures or symbols, or the use of primitive gestures to communicate their needs. In most every case, receptive communication (understanding what is being communicated to them) is better than expressive communication (expressing/communicating their needs).
Hyperkinetic movements of the trunk and limbs have been noted in early infancy. The uncoordinated, irregular movements can prevent walking, feeding, and reaching for objects. Gross motor skills are delayed with sitting occurring after 12 months of age and walking often delayed until 3 to 4 years of age. The child who is mildly impaired can have almost normal walking, which may be limited to mild toe-walking or a "prancing" gait. For the more severely affected children, they can be very stiff or shaky and jerky when walking. The legs are kept wide apart and the feet are flat and turned outward. In addition, arms are uplifted with flexed elbows and downward turned hands. Approximately 10% of children with AS will not achieve walking.
Seizures are another common characteristic of AS. Children usually develop seizures between 18 and 24 months of age. A variety of anticonvulsants have been used to control the seizures, some more successfully than others. The seizures can be of any type, however, the more common types include drop seizures, petit mal absences and myoclonic jerks. In infants, infantile spasms are sometimes seen. During a severe seizure, skills are sometimes lost, however, they can be regained at a later date. The good news is that as the child gets older, seizures often occur less frequently and sometimes cease completely.
What to Expect of the Older Child
In the adolescent years, puberty may be delayed by 1 to 3 years, but sexual maturation occurs with development of normal secondary sexual characteristics. The majority of those with AS, achieve continence by day and some by night. Self help skills include dressing (sometimes limited to clothing without buttons or zippers) and the ability to feed oneself with a spoon and fork. Also, though they do not live independently, individuals with AS can learn some household tasks. Young adults continue to learn and are not known to have any deterioration in their mental abilities. Hyperactivity and poor sleep patterns improve. Physical health appears to be remarkably well in individuals with AS and adults with AS look very youthful for their age. The life span of an individual with AS does not appear to be shortened. Scoliosis may become an issue for those who are not ambulating. Either bracing or surgical correction may be necessary.
Blythe was born on February 11, 1993. She was our first child and surely a great joy. When she was six months old, we worried about her development, but the doctor said all children are different. At 12 months old, she wasn't sitting up. Finally, we went to a neurologist and he gave her a clinical diagnosis (right on the spot) for A.S. All we had to do is wait for the blood results, which came back deletion positive. As a mother, I wanted the best for her; by this time, she was receiving occupational therapy, speech therapy and physical therapy at Easter Seals.
Right before her second B-Day, I entered her into a beauty pageant here in Arkansas. The reason I entered her was to get a trophy so she could have something special when she got older (you got a small trophy for being in the pageant). To my surprise, she won over all in her age group, most photogenic and best dressed. It resulted in two crowns, three ribbons, and two trophies. I was the proudest mom around. We went on to the nationals in Florida and had a ball on the beach and while swimming in the pool. Blythe didn't win anything, but we had fun.
The point to my story is to let parents get their child involved in extracurricular activities and don't give up on letting your child be all they can be. (I know I sound like I'm recruiting for the Army.) Now, Blythe is a beautiful 6 year old. She can walk, says a few words and is meeting goals everyday. - Donna Bowers
Max Bee is a blond haired, blue eyed cutie pie of Lancaster, Ohio. He was born on August 22, 1996 at 3:42 p.m. after 6 easy pushes. From day one, we knew Max was different. He didn't feed well, had colic and reflux, had a heart murmur (now closed), was developmentally delayed... the list went on and on. After multiple tests and over a year of searching, we found out on May 15, 1998 at 8:07 p.m. that Max has Angelman syndrome. He was diagnosed deletion positive by the FISH test. For us, it was like a bomb had dropped, but in time, it helped us to move onto another part of our lives. We were able to stop burning energy looking for the problem and could start using all of our energy to help Max.
Max is a 2 ½ year old little boy that has an eye disorder (4th optical nerve palsy) and wears glasses. He is a man on a mission, who works like a horse, is driven, has a great sense of humor, loves to snuggle, can work through his fears, has six-pack abs, is cruising, crawls like a crab, loves to spin, loves to take baths, loves to swim, loves animals, hates taking medicine, loves Barney and Elmo, loves toys that light up and play music, loves to swing on swings, is tall and trim, and loves people. He is involved in physical, occupational and speech therapies, and has six volunteers that do "follow through" therapy with him each week. He goes to Early Intervention classes twice a week, rides horses, and loves Kindermusik class. Max has his grandma and grandpa wrapped around every one of his little fingers. He poops and pees in the potty (sometimes), and is seizure controlled with Topamax. Max can drink from a sippie but prefers his bottle, he loves banana bread and "Very Cherry" fruit cocktail, loves to play with the radio, is sneaky and can play innocent very well, and he gives the best smooches known to man!!
Max is our life, our love, our everything. We have been in love with him since the beginning of time. Basically, if he were a dessert, we'd be fat!! He's great!! - Laura Bee
Amy Pauline Wise was born full term to Joe and Tammy Wise of Winchester, Indiana on October 21, 1995. She was welcomed home the next day by her siblings, Joey, 11, Jeremiah, 8 and Jennifer, 5.
Except for the need to have ear tube placement, Amy's first year of life was basically healthy. She began to have noticeable developmental delays by the time she was 8 months old. During her second year, Amy was hospitalized several times for respiratory problems. She began seeing many specialists for this, as well as for her developmental delays. She also began having physical therapy. Speech therapy was begun around her second birthday, as she had no recognizable speech sounds.
All testing done to determine a cause for her developmental delays came back normal. She was found to have asthma. The doctors were puzzled about her lack of speech and her physical delays. One doctor just labeled her as "mentally retarded," and, while her parents did not believe that this was a proper diagnosis, they didn't know how to find out what was really wrong.
Shortly after that, Amy's aunt, who works as a nurse, came across a patient (through a miraculous series of events that only God could've put together) who had Angelman syndrome. The symptoms reminded her so much of Amy that she contacted Amy's parents with some information. They in turn relayed the information to their family doctor. He had never heard of this disorder, but was willing to give it a try. The first test done (FISH) came back negative. The DNA methylation probe was done, and at 3 years and 4 months, Amy was positively diagnosed as having Angelman syndrome.
Amy is basically a happy child, is overcoming many of her physical problems (asthma included), and is learning sign language. She makes many messes and sometimes pinches, hits and scratches, but her parents still consider her their "angel." She is greatly loved. - Tammy Wise
If you are interested in meeting other parents and individuals who are involved with raising a child with Angelman syndrome, the following Angelman Listserv is available:
Send an e-mail to firstname.lastname@example.org, leave the subject field blank, and in the body of the e-mail type the words "add angelman-l" (without the quotes). You will then receive a confirmation by the list owner.
For more information on Angelman syndrome itself, visit these helpful sites:
- The Angelman Syndrome Foundation http://chem-faculty.ucsd.edu/harvey/asfsite/
- The Angelman Syndrome Association http://www.australianholidays.com/asa/frames/asa.htm
- Angelman Syndrome http://people.zeelandnet.nl/fhof/angelman.htm
- Angels Among Us: Angelman Syndrome Information and Resources http://shell.idt.net/~julhyman/angel.htm
The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider.
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