Orthop[Edic And Surgical Approach In Pws
- 1. 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
- 2. Diagnostic Holm, Cassidy, Butler developed consensual diagnostic criteria In 1993
- 3. Major criteria Neonatal and infantile central hypotonia with poor suck Feeding problems - poor weight gain/ f ailure to thrive Excessive or rapid weight gain on weight-for-length chart Characteristic facial features with dolichocephaly in infancy, narrow face or bifronta l diameter, almond-shaped eyes, small-appearing mouth with thin upper lip, down-turned corners of the mouth ( 3 or more required) Hypogonadism — Genital hypoplasia Delayed or incomplete gonadal maturation with delayed pubertal signs in the absence of intervention after 16 years of age Global developmental delay in a child younger than 6 years of age; mild to moderate mental retardation or learning problems in older children Hyperphagia /food foraging/obsession with food Deletion 15q11–q13 on high resolution or othercytogenetic / molecular abnormality of the Prader-Willi chromosome region, including maternal disomy
- 4. Minor Criteria 1. Decreased fetal movement , infantile lethargy or weak cry in infancy 2. 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 apnea 4. Short stature for genetic background by age 15 5. Hypopigmentation —fair skin and hair compared to family 6. Small hands and/or feet for height age 7. Narrow hands with straight ulnar border 8. Eye abnormalities 9. Thick, viscous saliva with crusting at the corners of the mouth 10. Speech articulation defects 11. Skin picking
- 5. 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 • Weak muscle tone • Feeding difficulties - poor sucking reflexes / require special feeding 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
- 6. 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 • M otor delays • Short stature without growth hormone therapy
- 7. Obesity Imbalance between energy intake and energy expenditure Necessary is 40% calories compared with non-obese Obes ity can become life-threatening if not controlled
- 8. Genital hypoplasia and cryptorchidism Cryptorchidism is reported in >90% of cases Small testes and scrotal hypoplasia Micropenis Inguinal hernia can occur in >90% of cases Hypoplasia of the clitoris and/or labia minor
- 9. Cryptorchidism evaluation Nonpalpable testicle- inguinal/pelvic ultrasound Magnetic resonance imaging ( MRI ) Measurements of testosterone, LH, and FSH B ilateral cryptorchidism - Gonadal stimulation testing to document functional testicular tissue
- 10. Cryptorchidism treatment G onadotropin 500–1000 U by intramuscular injection twice a week for 5 weeks (10 doses total) Post-test testosterone level of >100–200 ng/ dL is indicative of testicular activity Spontaneous descent of a cryptorchid testicle may occur Timing for surgical exploration and orchidopexy have been controversial
- 11. O rchiopexy Reduces the risk for cancer Reduces the risk for testicular torsion Preserve the testicular function and fertility
- 12. Musculoskeletal Disorders Are universal features of PWS Physical therapy is an essential element of treatment Growth hormone treatment improve muscle strength and endurance
- 13. Scoliosis Commonly observed disorder in PWS Diagnosed clinically in childhood 50-80% of individuals affected Pathogenesis - neuromuscular scoliosis Abnormal kyphosis or lordosis
- 14. Scoliosis Need an orthopedist consultation C linical screening and serial spine radiographs Spinal orthosis for mild to moderate curves to improve the functional position of the trunk Surgical intervention for severe , rapidly-progressing curves ( difficult due to poor bone and tissue quality)
- 15. Scoliosis
- 16. Osteoporosis Compromised bone strength predispose to an increased risk of fracture Osteoporosis in PSW patients often lead to bone fractures with decreased deep pain sensation X-ray absorptiometry ( DXA ) is the standard diagnostic method for assessment of bone mineral density Bisphosphonate Estrogen replacement therapy preserve bone mass and reduction of fracture risk
- 17. Anesthesia-Obesity Obese individuals are prone to obstructive apnea , pulmonary compromise, and diabetes Altered blood oxygen or blood carbon dioxide levels change response to medication Pulmonary hypertension, right ventricular hypertrophy and right-heart failure
- 18. Anesthesia-High Pain Threshold Individuals with PWS may not respond to pain in the same manner as others Helpful in post-operative management, but it may mask underlying problems Pain is the body's way of alerting us for problems
- 19. Anesthesia- Temperature Instability The hypothalamus regulates the body's temperature Depolarizing muscle relaxants ( succinylcholine ) should be avoided unless absolutely necessary risk for malignant hyperthermia
- 20. Thick Saliva Thick saliva can complicate airway management during extubation Thick saliva predisposes to dental cavities and loose teeth
- 21. Food-Seeking Behaviors It is important to have an empty stomach to reduce the risk of aspiration Individuals with PWS generally have an excessive appetite and may not tell you the truth if they have eaten just prior surgery A naso-gastric probe should be placed prior to any oral intubation
- 22. Skin Picking Skin picking can complicate healing of IV sites and wounds Usually if these remain well covered, they will be left alone Restraints or thick gloves may be used to protect surgical wounds during healing
- 23. Difficult IV Access Due to obesity and lack of muscle mass, individuals with PWS may pose difficulties with insertion of an intravenous line Ultrasound evaluation for the position of the vessels
- 24. Recovery Post Anesthesia Drowsiness may be due to the underlying somnolence and a component of central apnea For typical outpatient procedures, consideration should be given to an overnight observation
- 25. Gastrointestinal In the neonate - extremely weak suck reflex Nasogastric tube-feeding is often used to meet nutritional needs Many infants require gastrostomy tube placement to facilitate feeding a 30-degree incline post feeds decrease ability to vomit
- 26. Gastrointestinal Abdominal and rectal pain, rectal fissures, hemorrhoids, and rectal bleeding Diarrhea is more frequently than constipation in PWS Rectal ulcers - as a result of a regional skin picking
- 27. Treatment options for obesity Behavioral Modification Diet Exercise Medical therapy Surgery
- 28. Surgery Bariatric surgery causes weight loss through either a diminished capacity for food intake and/or via reduced digestion and absorption of food Experience with bariatric surgery in PWS is limited
- 29. Indications for Surgery NIH Consensus Panel 1991 BMI > 40 BMI > 35 with co-morbidities Children and adolescents have not been sufficiently studied to allow a recommendation for surgery
- 30. Surgical options for obesity Roux-en-Y Gastric Bypass Bilio-pancreatic diversion Gastric banding Vagotomy Gastroplasty Jejuno-ileal bypass Intragastric balloon
- 32. Bilio Pancreatic Diversion Marceau Procedure
- 33. Gastric banding
- 35. Vertical banded gastroplasty
- 36. Results Gastric restrictive operations and gastric banding failed to maintain long-term weight because of the poor patient compliance J ejunoileal 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
- 37. 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.
- 38. 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
- 39. 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
- 40. Thank You