Transcript Prader-Willi Syndrome Presentation

PRADER-WILLI SYNDROME
Amber Rice
General Information
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Also known as Prader-Labhart-Willi syndrome
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Non-inherited – occurs sporadically
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Most common genetically-identified cause of lifethreatening obesity
Prevalence: 1 in 12,000 to 15,000
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Both sexes and all races (Caucasians)
History
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Abnormalities in children first observed by
endocrinologists
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Two identifiable stages described in 1960’s
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Prader, Labhart, and Willi (1956)
Orthopedic, dental, and developmental
Further research in 1970’s and 1980’s
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Behavioral, personality, and medical
Genetics
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Disorder of Chromosome 15
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Loss of genes normally contributed by the
father
Three main errors
1.
2.
3.
Non-inherited deletion of paternal
chromosome 15
Two maternal chromosome 15’s
Error in imprinting – paternal chromosome is
nonfunctional
Characteristics
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Weight Problems and Appetite Disorder
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Behavioral Issues
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Developmental Concerns
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Physical features
Weight and Appetite
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Feeding problems and poor weight gain in
infancy
Hyperphagia – abnormally increased appetite for
and consumption of food
Excessive/rapid weight gain between 1 and 6
years
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Absence of intervention
Food foraging
Obsession with food and compulsive eating
Behavioral Issues
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Infants and children are typically happy
and loving
Older children and adults have difficulties
with behavior regulation
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Temper tantrums
Stubbornness
Obsessive compulsive behaviors
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most issues are food related
Developmental Concerns
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Hypotonia in infants – improves with age
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May create feeding problems and delayed speech
Deficits in strength, coordination and balance
IQ ranges from 40-105
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Average = 70
Individuals with normal IQ typically have learning
disabilities
Strengths and Weaknesses
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Problem Areas
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Attention
Short term auditory memory
Abstract thinking
Strengths
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Long term memory
Reading ability
Receptive language
Hormones
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Growth hormone is normally deficient
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Short stature
Lack of growth spurts
High body fat ratio
Sex hormones are typically low
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Good response to treatment
Early pubic hair
Puberty is late and incomplete
Physical Features
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Short Stature
Long and narrow head at birth
Narrow face
Distinct eyes (almond shaped)
Small mouth – corners curved downward
Thin upper lip
Small upturned nose
Small hands and feet
Management
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Behavioral Issues
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Routines and structure, strict rules and limits, “time
out,” and positive rewards
Weight Problems
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Balanced low calorie diet (1,000-1,200 per day)
Regular weigh-ins and periodic diet reviews
Food plans that are consistent
Locking kitchen and food storage areas
Daily exercise (at least 30 minutes)
Prognosis
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With weight controlled, life expectancy is
normal
Obesity and diabetes common in
individuals who don’t follow their diet
Strict diet and lifestyle may be too
stressful for families
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Counseling
Supported living programs
References
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Singh, N. N., Lancioni, G. E., Singh, A. N., Winton, A. S.,
Singh,
J., McAleavey, K. M., & Adkins, A. D. (2008). A mindfulness based
health wellness program for an
adolescent with prader-willi
syndrome. Behavior Modification, 32(2), 167-181.
Gross-Tsur, V., Landau, Y. E., Benarroch, F., WertmanElad, R., & Shalev, R. S. (2001). Cognition,
attention, and
behavior in prader-willi syndrome.
Journal of Child Neurology,
16(4), 288-290.
Beirne-Smith M., Patton, J. R., & Kim, S. H. (2006).
Mental retardation: An introduction to intellectual disabilities.
(7th ed.). Upper Saddle River, New Jersey: Prentice-Hall, Inc.