Angelman Syndrome: Happy Puppet Syndrome

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Angelman SyndromeHappy 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 Contd

• He was unable to establish scientific proof due
  to lack of technology.
• His findings were pushed aside until the 1980s
  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. 200143 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
  cant 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?