PRADER-WILLI SYNDROME

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PRADER-WILLI SYNDROME

• Amber Rice

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General Information

• Also known as Prader-Labhart-Willi syndrome
• Non-inherited occurs sporadically
• Most common genetically-identified cause of
  life-threatening obesity
• Prevalence 1 in 12,000 to 15,000
• Both sexes and all races (Caucasians)

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History

• Abnormalities in children first observed by
  endocrinologists
• Prader, Labhart, and Willi (1956)
• Two identifiable stages described in 1960s
• Orthopedic, dental, and developmental
• Further research in 1970s and 1980s
• Behavioral, personality, and medical

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Genetics

• Disorder of Chromosome 15
• Loss of genes normally contributed by the father
• Three main errors
• Non-inherited deletion of paternal chromosome 15
• Two maternal chromosome 15s
• Error in imprinting paternal chromosome is
  nonfunctional

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Characteristics

• Weight Problems and Appetite Disorder
• Behavioral Issues
• Developmental Concerns
• Physical features

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Weight and Appetite

• 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
• Absence of intervention
• Food foraging
• Obsession with food and compulsive eating

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Behavioral Issues

• Infants and children are typically happy and
  loving
• Older children and adults have difficulties with
  behavior regulation
• Temper tantrums
• Stubbornness
• Obsessive compulsive behaviors
• most issues are food related

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Developmental Concerns

• Hypotonia in infants improves with age
• May create feeding problems and delayed speech
• Deficits in strength, coordination and balance
• IQ ranges from 40-105
• Average 70
• Individuals with normal IQ typically have
  learning disabilities

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Strengths and Weaknesses

• Problem Areas-
• Attention
• Short term auditory memory
• Abstract thinking
• Strengths-
• Long term memory
• Reading ability
• Receptive language

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Hormones

• Growth hormone is normally deficient
• Short stature
• Lack of growth spurts
• High body fat ratio
• Sex hormones are typically low
• Good response to treatment
• Early pubic hair
• Puberty is late and incomplete

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Physical Features

• 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

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Management

• Behavioral Issues
• Routines and structure, strict rules and limits,
  time out, and positive rewards
• Weight Problems
• 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)

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Prognosis

• With weight controlled, life expectancy is normal
• Obesity and diabetes common in individuals who
  dont follow their diet
• Strict diet and lifestyle may be too stressful
  for families
• Counseling
• Supported living programs

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References

• 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.,
  Wertman-
• Elad, 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.