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Update on GI Issues in Prader-Willi Syndrome

Update on GI Issues in Prader-Willi Syndrome. Ann O. Scheimann, M.D., M.B.A. Division of Pediatric Nutrition and Gastroenterology Johns Hopkins Children’s Center Adjunct Faculty, Baylor College of Medicine. gland. Esophagus. Stomach. Small Intestine. Large Intestine.

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Update on GI Issues in Prader-Willi Syndrome

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  1. Update on GI Issues in Prader-Willi Syndrome Ann O. Scheimann, M.D., M.B.A. Division of Pediatric Nutrition and Gastroenterology Johns Hopkins Children’s Center Adjunct Faculty, Baylor College of Medicine

  2. gland Esophagus Stomach SmallIntestine LargeIntestine Overview of GI Anatomy

  3. Overview of Presentation • Prevalence of GI issues in Prader-willi Syndrome • Review of Literature on GI Problems in Prader-willi Syndrome • Feeding and Swallowing • Choking/Dysphagia • Constipation • Gastric Dilatation and Necrosis • Bariatric Surgery • Update on Research Studies

  4. How Common Are GI-related Symptoms? • Early feeding difficulties very common among infants with PWS • Major criteria for clinical diagnosis of PWS (Holm, et al., Pediatrics 1993) • Infant feeding problems seen in 93% of patients (Gunay-Aygun, Cassidy Pediatrics 2003) • Frequent reports of reflux symptoms, and inability to vomit • Early deaths from aspiration (Reflux related?) • Significant morbidity from high pain threshold and vomiting threshold well documented

  5. Symptom Prevalence Among PWS Adults Combined data from JV Butler et al (2002), S Cassidy et al. (1995), and B. Whitman

  6. Common Oral Issues • Oromotor weakness • Hypotonia • Palatal abnormalities • Dental abnormalities • Micrognathia (Small jaw) • Microdontia (small teeth), delayed eruption and hypoplastic (weak) enamel, dental crowding and erosions from rumination • Salivary abnormalities (xerostomia-thick saliva) • Salivary flow is only 20-50% of normals (PS Hart, Ann NY Acad Sci 1998 and Saeves et al Arch Oral Biol 2012)

  7. Phases of Swallowing Oral Preparatory Oral Pharyngeal Esophageal

  8. Esophageal Motility • Esophageal peristalsis results from sequential contraction of circular muscle, which serves to push the ingested food bolus toward the stomach Image from: http://www.webmd.com/digestive-disorders/picture-of-the-esophagus NASPGHAN motility teaching slideset

  9. Feeding and Swallowing Intervention : Nutritional Intervention and Oromotor Therapy on NG Feeds Published in Management of Prader-willi Syndrome 3rd edition

  10. Swallowing Issues Among Adults and Children with PWS • Study (2014) funded by PWSAUSA by Gross, Gisser and Cherpes published in Dysphagia 10/2015 • VFSS Swallow Studies using thin liquids and barium cookies in 30 adults with PWS • Significant, sometime substantial pharyngeal residue was present in 97% of subjects • Moderate to severe esophageal stasis was detected in 100% of participants • None could feel pharyngeal residue or esophageal stasis, regardless of the quantity

  11. Choking/Prader-willi Syndrome • Review of data provided by families and collected through the PWSA bereavement program • 39% of families reported history of choking among the 52 families who completed questionnaires • Choking listed as cause of death in 12/152 patients (7.9%) • Average age 24 years (3-52 years) • 92% of patients were male Stevenson et al.,AJMG 2008

  12. Choking/Prader-willi Syndrome • Factors predisposing to choking • Hyperphagia/Foraging • 25% of patients were food-stealing • Thick saliva • Weakness of pharyngeal muscles • Gastritis/Gastroesophageal Reflux • Gastritis noted in 38% at autopsy (3/8)

  13. Choking/Prader-willi Syndrome • Current Interventions • Heimlich maneuver training • Group home and household • Diet interventions • Supervised meals • Holiday monitoring • Meal pacing/Chewing prompts • PACE AND CHASE • Fluid intake with self regulation (straw) • Treatment of Gastritis/Reflux

  14. Frequency of Constipation in PWS • 21 patients with PWS (median age 32 with median BMI 23.6) at Aarhus Center • Constipation history, rectal exam, rectal diameter by ultrasound, transit time • 30 healthy volunteers (median age 26 and BMI 23.1) controls • Symptoms • Infrequent stools (<3/week) 47% • Straining 37% • Hard Stools 32% • No difference in rectal diameter or transit time between PWS and controls • 29.3% of PWS adults through questionnaire study Kuhlmann et al, BMC Gastroenterology 2014; Equit Neurourology Urodynamics 2013

  15. Constipating Conditions • Dysfunctional state • Developmental (ADD, Cognitive) • Situational (Toilet/parent) • Psychogenic (Depression) • Constitutional (Genetic) • Reduced volume;drying • Metabolic/Endocrine • Hypothyroid • Hypercalcemia • Lead • Diabetes mellitus • Hypopituitarism • Altered Anatomy • Structural problem • (Position, Narrowing) • Acquired bowel stricture • Malrotation • Pelvic Mass • Aganglionosis (Hirschsprung’s) • Abnormal abdominal muscles (prune belly) • Abnormal nerves (Spina Bifida) • Hypotonia (CP/Myopathy) • Connective Tissue Disorder (Scleroderma, Lupus)

  16. PWSA-USA Constipation Alert • Medical Alert on Constipation In Individuals with Prader-Willi Syndrome • James Loker MD • CAB PWSAUSA • “Failure of standard methods to clear stool in a timely manner in the setting of pain, distension, decreased appetite warrants surgical or GI consultation.” 

  17. Gastric Motility Proximal stomach Gastric reservoir Distal stomach Peristalsis Low distensibility Grinding of solids

  18. GI Emptying Evaluation • Gastric emptying study • Emptying of a solid meal (scrambled eggs or oatmeal ) is standard technique • Should be continued for 4 hours after the meal rather than stopping at 90-120 minutes • Data from PWS study at BCM (manuscript in preparation) • 4/6 children with PWS had abnormal/delayed stomach emptying • Reported hunger despite slow emptying

  19. Gastric Dilation

  20. Gastric Dilation/Necrosis • In dogs related to stretching then twisting of stomach along axis • Previously reported in anorexia and bulimia patients • Undernourished patients complain of abdominal pain after meals • Attributed to significant binge eating • Possible role of bacteria producing gas and wall injury • Gastric wall becomes thin; vascular compromise • Some models suggest feedback problem with solitary nucleus

  21. Gastric Dilation/Necrosis • Difficult to diagnosis • High index of suspicion • Clinical features include change in diet before development of abdominal distension and vomiting • Abdominal films show large dilated stomach • Treatment is gastric decompression and supportive care with careful monitoring for possible rupture

  22. Acute Gastric Dilatation with Gastric Necrosis in PWS • Series of 6 women with vomiting and gastroenteritis developed rapidly progressive gastric dilatation followed by necrosis* • 2 Pediatric cases had spontaneous resolution • 1 patient died of sepsis • 3 patients had massive dilatation requiring gastrectomy in 2 • Another series of laparoscopic gastric banding reported one death in a patient with Prader-willi Syndrome 45 days post procedure+ *RH Wharton et al., Am J Med Genet 1997, 73: 437-41 +E Chelala et al., Surg Endo 1997, 268-71

  23. Gastric Rupture/Necrosis: Recent Data • 4 patients out of 152 died from gastric rupture/necrosis; 3 additional suspected • Teen (BMI 22) binge eating on holiday followed by abdominal pain and vomiting • 2 Young adults (not obese) with abdominal pain and vomiting • Middle-aged obese adults with history of ulcer and gastritis • Child with abdominal pain and hematemesis Stevenson D, Scheimann A, et al., JPGN

  24. PWS GI Algorithm (Loker et al)

  25. Bariatric Surgery (WLS) • Basic Principles • Creation of short bowel syndrome(RYGBP)-Creation of microgastria to limit intake LapBandTM NIH Pub 96-4006, Apr 1996

  26. Bioenteric Balloon Inamed, 2004

  27. Biliopancreatic Diversion Bariatric Surgery Society

  28. Wt Loss at 5 Years Post-procedure

  29. Impact of Serial BIB Procedures DePeppo et al, Obes surg 2008; 18: 1443-1449

  30. BIB Complications in Prader-willi Syndrome 4 complications Major Complications (2) One patient died 22 days after BIB placement due to gastric perforation Second patient developed 25 days after BIB placement and 10 days after solids Complication rate 4/21 BIB placement vs 71/2515 general population (P<0.001) DePeppo et al. ObesSurg 2008; 18; 1443-49. Genco A et al., ObesSurg 2005;15: 1161-4.

  31. Outcomes of Laparoscopic Sleeve Gastrectomy in Prader-willi Syndrome 14 total patients reported 17 yo girl (clinical dx PWS) with T2DM with improved BMI from 46.7 – 33.7 and T2DM at 15 mo postop 8 yo girl with OSA, psoriasis, IGT with BMI 56.3->40 and improved psoriasis and IGT at 9 mo postop 3 pts (ages 15-23) preop BMI 46-50 and mild/mod OSA had 50% excess weight loss at 2 years 64% drop in ghrelin 9 pts (7 PWS, 2 BBS) including 5 yo with PWS and OSA incomplete f/u data Yu et al. Surg Obes Rel Dis 2012. Till et al. Obes Surg 2008. Al-Qahtani Annal Surg 2012 Fong Obes Surg 2012

  32. Laparoscopic Sleeve Gastrectomy in Prader-willi Syndrome: Updated Info re: Saudi Experience • Experience of 24 PWS patients with followup up to 5 years post procedure • Mean age 10.7 years- range (4.9-18 years). • Preoperative BMI 46.2 + 12.2 kg/m2 • Preoperative Comorbidities: Sleep apnea (100%) (sleep study and pediatric sleep questionnaire ), dyslipidemia (62%), hypertension (43%), diabetes (25%), prehypertension (25%), Prediabetes (21%) • None received growth hormone therapy or had thyroid/adrenal dysfunction • Patients were matched with 3 non-PWS patients who underwent sleeve gastrectomy for age, gender and BMI Alqahtani AR, Elahmedi M, Al Qahtani AR, Lee J, Butler MG. SOARD 2016.

  33. Laparoscopic Sleeve Gastrectomy in Prader-willi Syndrome: Updated Info re: Saudi Experience • Followup data was reported on 94% of PWS patients to varying intervals • Baseline 8% • 1 year 16% • 2 year 12% • 3 year 16% • 4 year 16% • 5 year 29%

  34. Laparoscopic Sleeve Gastrectomy in Prader-willi Syndrome: Updated Info re: Saudi Experience

  35. Commentary: Re: Laparoscopic Sleeve Gastrectomy in Children re: Saudi Experience • Coupaye, Poitou, Tauber (SOARD 2016) • Severity of obesity • Access to appropriate care re: prevention and growth hormone • Psychosocial issues • Absence of postoperative complications in frail population • Cautious interpretation of data advised

  36. Commentary: Re: Laparoscopic Sleeve Gastrectomy in Children re: Saudi Experience • Scheimann, Miller, Glaze (SOARD 2017) • Concern re: report of remission/resolution of OSA in 87.5% of patients at longitudinal assessment • Published OSA rates 44-100% • Reviewed OSA rates for 30 US patients with PWS- (mean age 14.4, mean BMI z-score 2.07 vs 15 patients in Alqahtani series 3 or more years post-op (mean age 15.3, mean BMI z-score 1.99) • 13/30 patients had moderate to severe OSA on polysomnogram compared to 1/15 in the post-bariatric group (p=0.016) • 7/30 patients with PWS had on evidence of OSA vs 12/15 in the post-bariatric group (p=0.004). • Cautious interpretation of data advised

  37. PWS Modified Atkins Diet and Behavior Study • Study team • Grace Felix MD, Bobbie Baron RD, Elizabeth Getzoff PhD, Eric Kossoff MD, Tim Moran PHD, Cynthia Sears PhD, Kevin Laugero PhD , (Elizabeth Roof MA, Kim Kafka RN) • Funded by FPWR Canada • Postdoctoral fellow has been funded through JHH NIH training grant for 2nd year of study • Study Duration- 9 months (total of 3 study visits) • 1-4 week period of observation prior to start of the Modified Atkins Diet • 4 months on the Modified Atkins Diet • 4 months off the Modified Atkins Diet • Modified Atkins Diet • 10-15 grams net carbs; Mildly hypocaloric

  38. Twin Microbiome Study in PWS • Investigators: Rob Shulman (BCM), Kjersti Aargard (BCM), Ann Scheimann (BCM/JHH), Jen Miller (Ufl), June-Anne Gold (Loma Linda) • Funded by FPWR • A total of 11 families with twins and multiple gestation families consented to date • Samples collected/received by Baylor lab for 7/11 • Other participants to ship soon • Samples to be analyzed once all specimens received

  39. Final Thoughts • Knowledge improving in GI physiology • Work in Progress • Understanding of swallowing physiology • Gastric function • Interplay between dietary intake, gut peptides and CNS • Role of microbiome in obesity in Prader-willi syndrome • Strategies to best assist the severely obese

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