Angelman Syndrome - PowerPoint

							 Angelman Syndrome:
Happy Puppet Syndrome


   Jessica Nickels
         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.
    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)
            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
        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
             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.
         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
        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
        Clinical Features of AS

• ~80%
   – Delayed, disproportionate growth in head
     circumference

   – Seizures, onset usually before 3 years of age

   – Abnormal EEG
          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
          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
       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
       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
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
     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)
    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
          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
          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!
         Feeding Characteristics
• Food choices in younger children with chewing
  difficulties were geared towards texture of foods
  as well as taste
                  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
Any Questions?