Download - Angleman Syndrome
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Angelman Syndrome:Happy Puppet Syndrome
Jessica Nickels
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Background Information
• In 1965, Dr. Harry Angelman discovered Angelman syndrome (AS).
• Was working with 3 children who all had a stiff, jerky gait, absent speech, excessive laughter, and
seizures.
• Angelman decided that the 3 children must have the same disorder using clinical data.
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Background Information Cont’d
• He was unable to establish scientific proof due to lack of technology.
• His findings were pushed aside until the 1980’s when more research began to take place.
• The new technology discovered that AS was a genetic syndrome.
• Prevalence: 1 in 15,000
• about 300 reported cases (1993)
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Genetic Basis of AS
• AS is caused by a deletion or mutation occurring in chromosome 15
• 4 Main Causes:– ~70% caused by deletion of part of the maternally
contributed chromosome 15
– ~5% caused by mutation of UBE3A (a protein) within the maternally contributed chromosome 15
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Genetic Basis of AS
– ~5% caused by a paternal uniparental disomy
• the child inherits both copies of chromosome 15 from father
– ~4% child inherits chromosome 15 from both
parents but the copy inherited from the mother
functions the same way that a paternal
chromosome 15 should function
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Clinical Confusion
• AS is often misdiagnosed as Prader Willi syndrome (PWS) because of similar clinical signs
• PWS and AS are two clinically distinct disorders, but they are both caused by an absence that occurs in chromosome 15.
• PWS results from an absence that occurs in the paternal chromosome 15 while AS occurs in the maternal chromosome 15.
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Clinical Features of AS
• 100%
– Functionally severe developmental delay,
– Speech impairment, lack of speech 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
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Clinical Features of AS
• 100% Continued
– Any combination of frequent laughter/smiling;
apparent happy demeanor; easily excitable
personality
– hand flapping movements; hypermotoric behavior;
short attention span
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Clinical Features of AS
• ~80%– Delayed, disproportionate growth in head
circumference
– Seizures, onset usually before 3 years of age
– Abnormal EEG
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Clinical Features of AS
• ~20- 80%
– Flat occiput (back of the head)
– Occipital groove
– Protruding tongue
– Tongue thrusting; suck/swallowing disorders
– Feeding problems during infancy
– Prognathia (projecting jaw)
– Wide mouth, wide-spaced teeth
– Frequent drooling
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Clinical Features of AS
• ~20- 80% (continued)
– Excessive chewing/ mouthing behaviors
– Strabismus (squinting of eye)
– Hypopigmented skin
– Hyperactive lower limb deep tendon reflexes
– Uplifted, flexed arm position especially during
ambulation
– Increased sensitivity to heat
– Sleep disturbance
– Attraction to/ fascination with water
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Growth and Development
• Seizures– Methods of treatment vary from different
medications to ketogenic diet
– can happen at any time
• Gait & Movement Disorders– jitteriness present in first 6 months
– slight jerkiness and uncoordinated movements prevent walking, feeding, and reaching for objects.
– Sitting usually occurs after 12 months and walking is delayed until age 3 or 4 years
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Growth and Development
• Puberty– generally normal in adolescence– reproduction is possible for both males and
females• no cases have been documented
• Speech– language impairment is severe– appropriate use of even one or two words is
rare– few can learn sign language– most are able to use their own sign language
to communicate
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Growth and Development in adolescents and adults
• Clayton-Smith J. Angelman syndrome: evolution of the phenotype in adolescents and adults. Dev Med & Child Neur. 2001;43: 476-480
• Study looked at 28 adolescents and adults and their clinical features
• Concluded:– facial features: elongation of face more prominent
– scoliosis apparent, mobility decreased
– seizures decreased
– ataxic gait less obvious
– hyperactivity reduced
– communication skills improved - signing
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Problems Relating to Nutrition
• Nutrition problems often first present to the physician as poor weight gain or failure to thrive and not as sign of AS
• Feeding Problems– difficulty sucking or swallowing
• may be trouble initiating sucking and sustaining breast feeding
• bottle feeding may be easier• most are hypotonic (diminishing muscle
mass)
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Problems Relating to Nutrition
• Feeding problems continued
– tongue thrusting• causing difficulty to keep things in mouth
(i.e. food or bottles)
– gastroesophageal reflux• may require surgery
– Many AS children experience constipation.
– Obesity in older patients- due to lack of mobility
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Feeding Characteristics
• Sucking and/or tongue thrusting, frequent
spitting up improves in time
• Some children seem to begin finger feeding at an
appropriate age, and parents report that they
can’t seem to shovel it in fast enough.
– As child gets older, eating speed slows
• Parents have to choose lower fat items or limit
serving size because of fear of obesity
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Feeding Characteristics
• AS children have high caloric intake; however, the children remain thin
– due to high metabolism and hyperactivity
• Introducing spoon feeding can be difficult!
– Children feels using a spoon is too slow.
– One parent reported that she needed to hold one hand down for a long time before the child would try the spoon with the other hand.
– Child learned to use the spoon quite quickly and well
– However, finger feeding was the method of choice when left unsupervised!
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Feeding Characteristics
• Food choices in younger children with chewing difficulties were geared towards texture of foods as well as taste
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Conclusion
• With attentive care, children with AS are capable to learn to communicate and feed themselves.
• Main nutrition problems to look at are reflux and obesity.
• Further research needs to be done to learn more about the nutritional risk for AS children
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Any Questions?