PRADER-WILLI SYNDROME Amber Rice General Information Also known as Prader-Labhart-Willi syndrome Non-inherited – occurs sporadically Most common genetically-identified cause of lifethreatening obesity Prevalence: 1 in 12,000 to 15,000 Both sexes and all races (Caucasians) History Abnormalities in children first observed by endocrinologists Two identifiable stages described in 1960’s Prader, Labhart, and Willi (1956) Orthopedic, dental, and developmental Further research in 1970’s and 1980’s Behavioral, personality, and medical Genetics Disorder of Chromosome 15 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 Weight Problems and Appetite Disorder Behavioral Issues Developmental Concerns Physical features 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 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 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 Strengths and Weaknesses Problem Areas Attention Short term auditory memory Abstract thinking Strengths Long term memory Reading ability Receptive language 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 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 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) Prognosis 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 Counseling Supported living programs 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., 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.