Prader-Willi Syndrome
Published on Nov 18, 2015
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PRESENTATION OUTLINE
PRADER-WILLI SYNDROME
ALEX HOLBROOK
WHAT IS PRADER WILLI SYNDROME?
A GENETIC DISORDER IN WHICH PEOPLE HAVE PERIODS WHERE THEY FAIL TO THRIVE AND PHASES WHERE THEY OVER-THRIVE
FAILURE TO THRIVE
OCCURS IN INFACY AND CONTINUES TO ABOUT THE AGE OF 2
PERIOD OF OVER-THRIVING
COMES AROUND THE AGE OF 2 TO THE END OF LIFE
WHAT ARE THE SYMPTOMS?
INSATIABLE HUNGER, SHORT STATURE, UNDEVELOPED SEXUALLY, MILD MENTAL RETARDATION
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WHAT IS THE DIAGNOSIS?
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F.I.S.H TESTING
FLUORESCENCE IN SITU HYBRIDIZATION, USED TO CLASSIFY WHICH IF FOUR CLASSES
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DELETION, MATERNAL UNIPARENTAL DISOMY 15, IMPRINTING DEFECTS, MUTATION
GROWTH HORMONE TREATMENT
GH TREATMENT
RESULTS
NORMALIZATION AND IMPROVEMENT
NORMALIZES
BMI (BODY MASS INTEGER) AND HEAD CIRCUMFERENCE
IMPROVES
BODY FAT PERCENTAGE, BODY COMPOSITION AND BODY PROPORTIONS
