One of the most common genetic conditions Prader willi syndrome

1. POKHREL, BHARAT, MD

2.  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)

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

4.  Disorder of Chromosome 15 (15q11.2-13)
 Loss of genes normally contributed by the father
 Three main errors
1. Non-inherited deletion of paternal chromosome 15
2. Two maternal chromosome 15’s
3. Error in imprinting – paternal chromosome is
nonfunctional

5.  Weight Problems and Appetite Disorder
 Behavioral Issues
 Developmental Concerns
 Physical features

6.  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

7.  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

8.  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

10.  Problem Areas-
 Attention
 Short term auditory memory
 Abstract thinking
 Strengths-
 Long term memory
 Reading ability
 Receptive language

11.  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

12.  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

14. FISH (fluorescence in situ hybridization)
 A cytogenetic technique used to detect and localize the presence or absence of
specific DNA sequences on chromosomes.
FISH uses fluorescent probes that bind to only those parts of the chromosome
with which they show a high degree of sequence similarity.
Fluorescence microscopy can be used to find out where the fluorescent probe
bound to the chromosomes.
FISH is often used for finding specific features in DNA for use in genetic
counseling, medicine, and species identification.
FISH can also be used to detect and localize specific mRNAs within tissue samples.
In this context, it can help define the spatial-temporal patterns of gene expression
within cells and tissues.

15.  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)

16.  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

17.  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.