PRADER-WILLI SYNDROME Amber Rice

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

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

Genetics Disorder of Chromosome 15 Disorder of Chromosome 15 Loss of genes normally contributed by the father Loss of genes normally contributed by the father Three main errors Three main errors 1. Non-inherited deletion of paternal chromosome Two maternal chromosome 15’s 3. Error in imprinting – paternal chromosome is nonfunctional

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

Weight and Appetite Feeding problems and poor weight gain in infancy Feeding problems and poor weight gain in infancy Hyperphagia – abnormally increased appetite for and consumption of food Hyperphagia – abnormally increased appetite for and consumption of food Excessive/rapid weight gain between 1 and 6 years Excessive/rapid weight gain between 1 and 6 years Absence of intervention Absence of intervention Food foraging Food foraging Obsession with food and compulsive eating Obsession with food and compulsive eating

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

Developmental Concerns Hypotonia in infants – improves with age Hypotonia in infants – improves with age May create feeding problems and delayed speech May create feeding problems and delayed speech Deficits in strength, coordination and balance Deficits in strength, coordination and balance IQ ranges from IQ ranges from Average = 70 Average = 70 Individuals with normal IQ typically have learning disabilities Individuals with normal IQ typically have learning disabilities

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

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

Physical Features Short Stature Short Stature Long and narrow head at birth Long and narrow head at birth Narrow face Narrow face Distinct eyes (almond shaped) Distinct eyes (almond shaped) Small mouth – corners curved downward Small mouth – corners curved downward Thin upper lip Thin upper lip Small upturned nose Small upturned nose Small hands and feet Small hands and feet

Management Behavioral Issues Behavioral Issues Routines and structure, strict rules and limits, “time out,” and positive rewards Routines and structure, strict rules and limits, “time out,” and positive rewards Weight Problems Weight Problems Balanced low calorie diet (1,000-1,200 per day) Balanced low calorie diet (1,000-1,200 per day) Regular weigh-ins and periodic diet reviews Regular weigh-ins and periodic diet reviews Food plans that are consistent Food plans that are consistent Locking kitchen and food storage areas Locking kitchen and food storage areas Daily exercise (at least 30 minutes) Daily exercise (at least 30 minutes)

Prognosis With weight controlled, life expectancy is normal With weight controlled, life expectancy is normal Obesity and diabetes common in individuals who don’t follow their diet Obesity and diabetes common in individuals who don’t follow their diet Strict diet and lifestyle may be too stressful for families Strict diet and lifestyle may be too stressful for families Counseling Counseling Supported living programs 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), 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), Gross-Tsur, V., Landau, Y. E., Benarroch, F., Wertman- 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), Beirne-Smith M., Patton, J. R., & Kim, S. H. (2006). Beirne-Smith M., Patton, J. R., & Kim, S. H. (2006). Mental retardation: An introduction to intellectual disabilities. (7 th ed.). Upper Saddle River, New Jersey: Prentice-Hall, Inc.