Orthopedic and Surgical Approach in Prader Willi Syndrome Patients Popoiu MC 1 , David VL 2 , Sima L 3 , Boia ES 1 , Badeti R 2 , Puiu M 1 1. University of Medicine and Pharmacy “Victor Babes” Timisoara 2. Children Hospital Louis Turcanu Timisoara 3. Municipal Hospital Timisoara
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1. Neonatal and infantile central hypotonia with poor suck2. Feeding problems -poor weight gain/failure to thrive3. Excessive or rapid weight gain on weight-for-length chart 4. Characteristic facial features with dolichocephaly in infancy, narrow face or
bifrontal diameter, almond-shaped eyes, small-appearing mouth with thin upper lip, down-turned corners of the mouth (3 or more required)
5. Hypogonadism— Genital hypoplasia 6. Delayed or incomplete gonadal maturation with delayed pubertal signs in the
absence of intervention after 16 years of age 7. Global developmental delay in a child younger than 6 years of age; mild to
moderate mental retardation or learning problems in older children8. Hyperphagia/food foraging/obsession with food9. Deletion 15q11–q13 on high resolution or othercytogenetic/molecular
abnormality of the Prader-Willi chromosome region, including maternal disomy
Minor Criteria
1. Decreased fetal movement, infantile lethargy or weak cry in infancy2. Characteristic behavior problems —temper tantrums, violent outbursts and
obsessive/compulsive behavior; tendency to be argumentative, oppositional, rigid, and stubborn; perseverating, stealing, and lying
3. Sleep disturbance or sleep apnea4. Short stature for genetic background by age 15 5. Hypopigmentation—fair skin and hair compared to family6. Small hands and/or feet for height age7. Narrow hands with straight ulnar border8. Eye abnormalities 9. Thick, viscous saliva with crusting at the corners of the mouth10. Speech articulation defects11. Skin picking
The first stage FAILURE TO THRIVE Birth to 5 years.
• Low birth weight, decreased activity in mother’s womb/babies arrive past their due date
techniques• Poor weight gain and slow physical growth• Small hands and feet• Excessive sleepiness• Developmental delays • Speech and language difficulties and delays• Underdeveloped genitals – undescended testicles
The second stage THRIVING TOO WELL Between 5 years throughout lifetime
• Increased appetite and weight control problems
• Behavior problems
• Learning difficulties with mental retardation
• Speech difficulties
• Motor delays
• Short stature without growth hormone therapy
Obesity
• Imbalance between energy intake and energy expenditure
• Necessary is 40% calories compared with non-obese
• Obesity can become life-threatening if not controlled
• Gastric restrictive operations and gastric banding failed to maintain long-term weight because of the poor patient compliance
• Jejunoileal bypass caused spectacular weight loss, but patients were unable to run a normal life due to excessive diarrhea
• Vagotomy is not adequate for long-term control of PWS related obesity
• Long-term results after Roux-en-Y Gastric Bypass were better, but high revision rate of the gastric pouch was reported
Conclusions• A multidisciplinary approach is needed to treat individuals with
PWS.
• Pediatricians, family physicians, or internists should be able to treat most patients with PWS in consultation with a clinical geneticist, endocrinologist, dietitian, surgeon and other experts as needed.
• Given the high rate of potential associated morbidities, all individuals with PWS should be regularly screened for abnormal bone structure and back curvature.
• The decreased muscle tone and muscle mass contribute to the lower metabolic rate, leading to physical inactivity and obesity.
• Surgery need to be evaluated.
Literature
• Butler MG, MGLee PD, Whitman BY. Management of Prader−Willi Syndrome. Springer Science Business Media, Inc: New York; 2006
• Marinari MG, Camerini G, Novelli GB. Outcome of biliopancreatic diversion in subjects with prader-willi syndrome. Obesity Surgery, 11, 491-495
• • Papavramidis ST, Kotidis EV, Gamvros O. Prader-Willi syndrome–
associated obesity treated by biliopancreatic diversion with duodenal switch. Case report and literature review. J Pediatr Surg 2006 Jun;41(6):1153-8
• Inge TH, Nancy F. Krebs NF et a. Bariatric Surgery for Severely Overweight Adolescents: Concerns and Recommendations. PEDIATRICS Vol. 114 No. 1 July 2004
• Touquet VLR, Ward WN, Clark CG. Obesity surgery in a patient with the Prader-Wili syndrome. Br. J. Surg. Vol. 70 (1983) 18Ck186
Thank’s to
• Romanian Prader Willi Association• Mrs. Dan Dorica• Prof Dr Puiu Maria• Colleagues from our project: Correlation
of clinic, genetic and epigenetic aspects implicated in the etiology of Prader-Willi/Angelman syndromes: model of multidisciplinary abordation for rare diseases in Romania