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?
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