Angelman Syndrome: Happy Puppet Syndrome

1. Angelman Syndrome:Happy Puppet Syndrome Jessica Nickels

2. 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.

3. 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)

4. 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

5. 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

6. 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.

7. 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

8. 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

9. Clinical Features of AS • ~80% • Delayed, disproportionate growth in head circumference • Seizures, onset usually before 3 years of age • Abnormal EEG

10. 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

11. 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

12. 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

13. 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

14. 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

15. 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)

16. 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

17. 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

18. 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!

19. Feeding Characteristics • Food choices in younger children with chewing difficulties were geared towards texture of foods as well as taste

20. 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

21. Any Questions?