# Down Syndrome — GCMD Library living collection Everything in the library about Down syndrome — built automatically from dossiers that name it. Updated: n/a · 4 episodes · 111 cited statements ## Episodes ### Evidence & Research - [CAPS - Educational Outcomes in School Age Children with a History of Hirschsprung’s Disease - Michael Cowap](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420) — video · [machine version](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420.md) ### Case-Based Learning - [Panel Discussion and Case Presentation Part I: Pediatric Bowel Management 2013](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070) — video · 12:27 · [machine version](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070.md) - [Colorectal Quiz: Episode 46](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848) — podcast · 29:59 · [machine version](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848.md) ### In-Depth Reviews - [Hirschsprung Disease in Brief](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023) — video · 10:44 · [machine version](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023.md) ## Chapters - [0:00](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=0) Sacral Ratio Calculation and Prognostic Significance (Ep 1) - [3:59](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=239) Indications for Permanent Colostomy (Ep 1) - [7:19](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=439) Prognosis by Malformation Type and Associated Anomalies (Ep 1) - [10:54](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=654) Cloacal Exstrophy Prognosis (Ep 1) - [0:00](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=0) Introduction and Clinical Presentation of Hirschsprung Disease (Ep 2) - [2:16](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=136) Diagnostic Workup: Contrast Enema, Rectal Biopsy, and Anorectal Manometry (Ep 2) - [5:49](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=349) Initial Management and Family Counseling (Ep 2) - [7:23](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=443) Surgical Management: Goals and Techniques (Ep 2) - [8:44](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=524) Postoperative Complications and Long-term Prognosis (Ep 2) - [0:00](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=0) Introduction (Ep 3) - [0:27](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=27) Study Presentation via Parent Narrative (Ep 3) - [3:34](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=214) Discussion and Questions (Ep 3) - [7:44](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=464) Closing (Ep 3) - [0:00](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=0) Case Presentation: Two-Day-Old with Trisomy 21 and Abdominal Distension (Ep 4) - [4:10](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=250) Initial Management Strategy and Perforation Patterns (Ep 4) - [7:17](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=437) Irrigation Technique and Enterocolitis Pathophysiology (Ep 4) - [9:39](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=579) Diagnostic Confirmation: Contrast Enema and Rectal Biopsy (Ep 4) - [12:41](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=761) Timing of Definitive Surgery and Leveling Biopsy Strategy (Ep 4) - [18:44](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1124) Ostomy Decision-Making: Ileostomy versus Colostomy (Ep 4) - [24:15](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1455) Enterocolitis Prevention: Botox and Patient Education (Ep 4) ## Statements Every statement is attributed, typed, and timestamped; the link is the citation. - "Hirschsprung disease is a loss of innervation to a section of bowel" — Michael Koep (clinical) [Ep 3 · 0:27](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=27) - "Hirschsprung disease is sometimes associated with genetic syndromes such as Down syndrome" — Michael Koep (clinical) [Ep 3 · 0:27](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=27) - "Hirschsprung disease can be fixed but requires surgery that involves cutting that section of bowel out" — Michael Koep (clinical) [Ep 3 · 0:27](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=27) - "Children with Hirschsprung disease may have ongoing issues with constipation, incontinence, and occasional abdominal pain after surgery" — Michael Koep (clinical) [Ep 3 · 0:27](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=27) - "The study compared children with Hirschsprung disease to their peers in real-world assessments" — Michael Koep (clinical) [Ep 3 · 0:27](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=27) - "While there may be some delay in the beginning in the preschool assessment, once children with Hirschsprung start school, there does not appear to be a significant difference between them and their peers in assessments that include reading and number skills" — Michael Koep (clinical) [Ep 3 · 0:27](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=27) - "There is not a significant difference in graduation from grade 12 between children with Hirschsprung disease and their peers" — Michael Koep (clinical) [Ep 3 · 0:27](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=27) - "Neurodevelopmental outcomes are just as important to parents as what surgeons do directly in the operating room" — Pam Choi (opinion) [Ep 3 · 3:34](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=214) - "Data was only specifically from Manitoba and using a Manitoba health repository" — Michael Koep (clinical) [Ep 3 · 5:02](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=302) - "The standardized tests are standardized within each province" — Pam Choi (clinical) [Ep 3 · 5:29](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=329) - "The data includes public school, private school and homeschooling" — Michael Koep (clinical) [Ep 3 · 5:35](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=335) - "First Nations and indigenous schools were not included in the repository" — Michael Koep (clinical) [Ep 3 · 5:35](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=335) - "The study did not account for how the disease is affecting each child individually" — Michael Koep (clinical) [Ep 3 · 6:21](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=381) - "Patients were matched based on being male and socioeconomic status" — Michael Koep (clinical) [Ep 3 · 6:21](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=381) - "The data was from 1997 to 2012" — Michael Koep (clinical) [Ep 3 · 7:16](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=436) - "The study did not include a subset analysis of long segment Hirschsprung disease" — Michael Koep (clinical) [Ep 3 · 7:44](https://qa.library.globalcastmd.com/watch/caps-educational-outcomes-in-school-age-children-with-a-history-of-hirschsprung-s-disease-michael-cowap-5420?t=464) - "The sacral ratio correlates with prognosis for bowel control in anorectal malformation patients" (clinical) [Ep 1 · 0:42](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=42) - "Normal sacral ratio is 0.7 or more, indicating good prognosis for bowel control" (clinical) [Ep 1 · 1:43](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=103) - "Sacral ratio of 0.4 or less means the patient will be fecally incontinent regardless of malformation type" (clinical) [Ep 1 · 2:35](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=155) - "No patient with sacral ratio less than 0.4 has ever been observed to be fecally continent" (clinical) [Ep 1 · 2:56](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=176) - "Patients with sacral ratio 0.4 or less will need enemas for life" (clinical) [Ep 1 · 2:56](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=176) - "The only indication for permanent colostomy is incapacity to form solid stool" (guideline) [Ep 1 · 5:38](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=338) - "Bad prognosis for bowel control does not mean the patient is a candidate for permanent colostomy" (guideline) [Ep 1 · 5:59](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=359) - "Patients subjected to bowel management report better quality of life than having a colostomy" (opinion) [Ep 1 · 6:25](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=385) - "With incapacity to form solid stool there is no bowel management option" (clinical) [Ep 1 · 6:55](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=415) - "Patients with Down syndrome and anorectal malformation have 80% chance of bowel control" (epidemiological) [Ep 1 · 7:57](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=477) - "Most patients with Down syndrome have anorectal malformation without fistula" (host_summary) [Ep 1 · 8:01](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=481) - "Only 15% of patients with rectal bladder neck fistula have bowel control" (epidemiological) [Ep 1 · 8:55](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=535) - "Rectal perineal fistula is the malformation with the best prognosis for bowel control" (clinical) [Ep 1 · 9:36](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=576) - "Good prognosis depends upon having a good operation, good sacrum, and no tethered cord" (clinical) [Ep 1 · 9:49](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=589) - "It is important to rule out a presacral mass before discussing prognosis for bowel control" (guideline) [Ep 1 · 9:54](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=594) - "Hemisacrum indicates the patient has a presacral mass" (clinical) [Ep 1 · 10:19](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=619) - "Hemisacrum and presacral mass change the prognosis for bowel control completely, even in rectal perineal fistula" (clinical) [Ep 1 · 10:19](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=619) - "Many patients born with perineal fistula have had terrible problems because presacral mass was not detected and not treated when surgeons did not take an x-ray film of the sacrum" (clinical) [Ep 1 · 10:54](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=654) - "The majority of patients with cloacal exstrophy will be fecally incontinent" (epidemiological) [Ep 1 · 11:57](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=717) - "Cloacal exstrophy patients have high rates of tethered cord, myelomeningocele, and abnormal sacrum" (clinical) [Ep 1 · 11:57](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=717) - "Not all patients with cloacal exstrophy are fecally incontinent; a few patients are fecally continent" (clinical) [Ep 1 · 11:57](https://qa.library.globalcastmd.com/watch/panel-discussion-and-case-presentation-part-i-pediatric-bowel-management-2013-1070?t=717) - "The first reports of Hirschsprung disease date back to the 17th century." (host_summary) [Ep 2 · 0:00](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=0) - "Hirschsprung disease is a congenital anomaly of the GI tract that results in a functional bowel obstruction." — Jason Frischer (clinical) [Ep 2 · 0:33](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=33) - "In Hirschsprung disease, the ganglion cells don't make it all the way down distally, and the colon ends up not being able to contract." — Aaron Garrison (clinical) [Ep 2 · 0:48](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=48) - "More than 95% of neonates pass meconium within the first 48 hours of life." — Jason Frischer (clinical) [Ep 2 · 1:11](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=71) - "Failure to pass meconium within the first 48 hours of life is typical of Hirschsprung's disease." — Jason Frischer (clinical) [Ep 2 · 1:11](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=71) - "Hirschsprung disease has an incidence of about 1 in 5,000 children." — Aaron Garrison (epidemiological) [Ep 2 · 1:32](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=92) - "About 10% of children with Hirschsprung disease will have a positive family history." — Jason Frischer (epidemiological) [Ep 2 · 1:43](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=103) - "The RET gene is a predisposing genetic condition associated with Hirschsprung disease." — Jason Frischer (clinical) [Ep 2 · 1:43](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=103) - "Up to 10% of children with Hirschsprung's disease will have trisomy 21." — Jason Frischer (epidemiological) [Ep 2 · 1:43](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=103) - "Only 1 to 2% of patients with trisomy 21 have Hirschsprung's disease." — Jason Frischer (epidemiological) [Ep 2 · 1:43](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=103) - "Hirschsprung disease is associated with Wordenberg syndrome and congenital central hyperventilation (Andine's curse)." — Jason Frischer (clinical) [Ep 2 · 1:43](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=103) - "The three studies that should be considered for evaluating for Hirschsprung's disease include contrast enema, rectal biopsy, and possibly anorectal manometry." — Jason Frischer (guideline) [Ep 2 · 2:25](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=145) - "The classic finding on contrast enema is a transition zone in the rectosigmoid, but that transition zone can be located anywhere within the bowel." — Jason Frischer (clinical) [Ep 2 · 2:42](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=162) - "The transition zone is from contracted rectum (where nerve cells are absent) to dilated rectum (where normal nerve cells are present)." — Aaron Garrison (clinical) [Ep 2 · 2:55](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=175) - "A rectosigmoid ratio of less than 1.0 is suggestive of Hirschsprung's disease." — Jason Frischer (clinical) [Ep 2 · 3:14](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=194) - "In Hirschsprung's disease, the rectum is usually less dilated than the proximal colon, making the rectosigmoid ratio less than 1." — Aaron Garrison (clinical) [Ep 2 · 3:23](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=203) - "Inability to evacuate contrast is a finding suggestive of Hirschsprung disease." — Aaron Garrison (clinical) [Ep 2 · 3:23](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=203) - "In total colonic Hirschsprung's disease, a foreshortened or question mark colon can be seen on contrast enema." — Aaron Garrison (clinical) [Ep 2 · 3:23](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=203) - "Rectal biopsy is the true definitive diagnosis for Hirschsprung disease." — Jason Frischer (guideline) [Ep 2 · 3:49](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=229) - "Typical features on rectal biopsy include absence of ganglion cells, presence of hypertrophic nerves, abnormal pattern of colon esterase staining, and an absence of calretinine staining." — Jason Frischer (clinical) [Ep 2 · 4:04](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=244) - "To be considered an adequate rectal biopsy, it must be taken from the rectum at least 1 cm above the dentate line and must include both mucosa and submucosal layers." — Jason Frischer (guideline) [Ep 2 · 4:04](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=244) - "Suction rectal biopsy technique is typically used for patients less than 6 months of age." — Jason Frischer (guideline) [Ep 2 · 4:29](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=269) - "Full thickness rectal biopsy technique should be considered for patients older than 6 months or when a suction biopsy is inadequate." — Jason Frischer (guideline) [Ep 2 · 4:29](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=269) - "Suction rectal biopsy is painless and commonly done at the bedside in neonates." — Aaron Garrison (clinical) [Ep 2 · 4:47](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=287) - "In anorectal manometry for Hirschsprung disease, there is a lack of the recto-anal inhibitory reflex (RAIR)." — Aaron Garrison (clinical) [Ep 2 · 4:47](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=287) - "The recto-anal inhibitory reflex may be absent in other conditions besides Hirschsprung disease, and some children have a false positive test." — Aaron Garrison (clinical) [Ep 2 · 4:47](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=287) - "Any patient with an absent RAIR must undergo a rectal biopsy for confirmation of the diagnosis." — Jason Frischer (guideline) [Ep 2 · 5:42](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=342) - "Children with Hirschsprung disease will need this condition managed for life, but the expectation is that they will live a normal life with close management and care." — Aaron Garrison (opinion) [Ep 2 · 6:07](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=367) - "NPO babies diagnosed with Hirschsprung disease are typically managed with irrigations, antibiotics if they show evidence of enterocolitis, and NPO or NG tubes if they're distended." — Aaron Garrison (guideline) [Ep 2 · 6:37](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=397) - "Older children with Hirschsprung disease are not amenable to just doing a primary pull through in many cases because the colon has become dilated." — Aaron Garrison (clinical) [Ep 2 · 7:03](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=423) - "Older children with Hirschsprung disease will start on an enema program, and some may need diversion more proximally to give the colon time to decompress." — Aaron Garrison (guideline) [Ep 2 · 7:03](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=423) - "The three goals of surgical management of Hirschsprung disease are: identify the extent of the aganglionic segment, resect that segment, and restore the bowel to its continuity." — Jason Frischer (guideline) [Ep 2 · 7:29](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=449) - "The three procedures for Hirschsprung disease (Swensen, Suave, Duamel) all involve a transanal approach of removing the aganglionic colon and pulling down healthy colon and sewing it to the anus." — Jason Frischer (clinical) [Ep 2 · 7:59](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=479) - "The Swensen technique is a full thickness dissection and anastomosis." — Jason Frischer (clinical) [Ep 2 · 7:59](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=479) - "The Suave procedure is a mucosectomy where you leave a cuff of aganglionic bowel and bring the ganglionated bowel through that cuff of rectum and perform the anastomosis." — Jason Frischer (clinical) [Ep 2 · 7:59](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=479) - "The Duamel procedure involves performing a pouch with an anastomosis of aganglionic and ganglionated bowel." — Jason Frischer (clinical) [Ep 2 · 7:59](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=479) - "Early postoperative complications include diaper rash and excoriation that can often need to be treated like a burn." — Aaron Garrison (clinical) [Ep 2 · 8:48](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=528) - "Anastomotic leak is a rare but possible early complication after Hirschsprung surgery." — Aaron Garrison (clinical) [Ep 2 · 8:48](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=528) - "Hirschsprung's associated enterocolitis is the main early complication everyone needs to be aware of." — Aaron Garrison (opinion) [Ep 2 · 8:48](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=528) - "Hirschsprung's associated enterocolitis is poorly understood and likely is an inflammatory condition secondary to bacterial overgrowth." — Jason Frischer (clinical) [Ep 2 · 9:15](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=555) - "A child with enterocolitis presents with abdominal distention, vomiting, fever, and change in bowel habits." — Jason Frischer (clinical) [Ep 2 · 9:15](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=555) - "Enterocolitis must be recognized as potential enterocolitis and treated urgently." — Jason Frischer (guideline) [Ep 2 · 9:15](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=555) - "Treatment for enterocolitis includes fluid resuscitation, digital rectal exam, and colonic irrigations." — Jason Frischer (guideline) [Ep 2 · 9:15](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=555) - "Depending on the severity of enterocolitis, broad-spectrum antibiotics are sometimes added, and patients are usually started on metronidazole." — Jason Frischer (guideline) [Ep 2 · 9:15](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=555) - "About 80% of kids with Hirschsprung's disease are constipated and will need some kind of management." — Aaron Garrison (epidemiological) [Ep 2 · 10:09](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=609) - "Assuming the operation has been done well and there are no transition zone or strictures, most patients with Hirschsprung disease are expected to do very well and be in kindergarten socially confident." — Aaron Garrison (opinion) [Ep 2 · 10:09](https://qa.library.globalcastmd.com/watch/hirschsprung-disease-in-brief-5023?t=609) - "Trisomy 21 is associated with approximately 50 times higher incidence of Hirschsprung disease compared to non-trisomy 21 patients, with about 5-10% of trisomy 21 patients having Hirschsprung disease." — Lily Chang (epidemiological) [Ep 4 · 2:58](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=178) - "Hirschsprung disease is almost never an emergency operation, and irrigations usually win the day." — Marc Levitt (clinical) [Ep 4 · 9:52](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=592) - "In Hirschsprung disease with perforation, the cecum perforates due to Laplace's law, and this indicates the transition zone is probably around the hepatic flexure because the right colon becomes very dilated with nowhere to empty." — Marc Levitt (clinical) [Ep 4 · 5:52](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=352) - "In anorectal malformation patients with perforation, the sigmoid colon typically perforates with a linear, longitudinal tear along the taenia." — Jason Frischer (clinical) [Ep 4 · 6:27](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=387) - "The pathophysiology of Hirschsprung enterocolitis involves physiologic obstruction at both the sphincter level and in the aganglionic segment, leading to stasis, bacterial overgrowth, translocation, and sepsis." — Jason Frischer (clinical) [Ep 4 · 7:34](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=454) - "Proper irrigation technique involves instilling small aliquots of warm saline (20-40 mL at a time) and actively withdrawing with a catheter to evacuate the saline, not just infusing it into the colon lumen." — Marc Levitt (clinical) [Ep 4 · 8:11](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=491) - "Cold saline used for irrigations in small children can significantly change the child's body temperature, so warm saline should be used." — Jason Frischer (clinical) [Ep 4 · 8:41](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=521) - "The rectosigmoid ratio less than one on contrast enema is indicative of Hirschsprung disease." — Lily Chang (clinical) [Ep 4 · 10:40](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=640) - "Sawtoothing in the rectum on contrast enema represents hyperperistalsis and is very classic for Hirschsprung disease, particularly when associated with enterocolitis." — Jason Frischer (clinical) [Ep 4 · 10:55](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=655) - "Definitive pathologic diagnosis of Hirschsprung disease requires absence of ganglion cells in 100 levels and presence of hypertrophic nerves greater than 40 microns." — Marc Levitt (clinical) [Ep 4 · 11:28](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=688) - "Frozen section can only definitively tell you it is NOT Hirschsprung disease (if ganglion cells are present), but cannot definitively confirm it IS Hirschsprung disease because that requires 100 levels with no ganglion cells anywhere." — Marc Levitt (clinical) [Ep 4 · 11:28](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=688) - "Calretinin staining is used as an adjunct: if calretinin is present, ganglion cells are nearby; if calretinin stain is absent, this further confirms Hirschsprung disease." — Christy Raylan (clinical) [Ep 4 · 11:54](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=714) - "If a patient has recovered from enterocolitis and irrigations are going well with reliable family, it is reasonable to send them home for 1-2 months before definitive operation rather than operating at 2 weeks." — Jason Frischer (opinion) [Ep 4 · 13:33](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=813) - "Literature from the PCPLC and Michael Rollins shows that delayed definitive surgery for Hirschsprung disease (around 3 months out) has similar outcomes, so it is okay to wait as long as patient receives good irrigations and is growing and healthy." — Jason Frischer (clinical) [Ep 4 · 14:29](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=869) - "If a baby with Hirschsprung disease is improving with irrigations but cannot be fed, diversion is a reasonable next step to allow enteral nutrition and growth." — Marc Levitt (clinical) [Ep 4 · 15:20](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=920) - "For leveling biopsies, the optimal strategy is to go directly to the sigmoid ('go for the money') and if frozen section shows ganglion cells, no other biopsies are necessary." — Marc Levitt (clinical) [Ep 4 · 16:14](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=974) - "If mapping the colon without frozen section available, the entire colon should be mapped (left colon, transverse colon, and hepatic flexure/right colon) to avoid missing ganglionic segments." — Jason Frischer (clinical) [Ep 4 · 17:23](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1043) - "The appendix should not be biopsied for Hirschsprung mapping because it is not helpful and should be saved for potential future use; many patients' appendixes are aganglionic." — Marc Levitt (clinical) [Ep 4 · 18:06](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1086) - "If going to OR for elective pull-through and sigmoid/left colon biopsies show no ganglion cells, should not proceed with pull-through that day; instead biopsy transverse colon and hepatic flexure, do ileostomy with frozen section confirmation, and return another day for definitive repair." — Philippa Jalius (host_summary) [Ep 4 · 19:30](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1170) - "Frozen section interpretation can be difficult in the setting of active enterocolitis due to excessive inflammation obscuring ganglion cells." — Christy Raylan (clinical) [Ep 4 · 20:34](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1234) - "In resource-limited settings without frozen section availability, the strategy is to bring up the dilated portion of colon as ostomy because it is more likely to be functional." — Marc Levitt (clinical) [Ep 4 · 21:01](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1261) - "In resource-limited settings, ileostomy is not a good option because patients cannot access medical care quickly enough if they become dehydrated, so colostomy is preferred." — Marc Levitt (clinical) [Ep 4 · 21:01](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1261) - "Modern telemedicine technology allows pathology slides (H&E stains) to be photographed through microscope and sent via internet for remote ganglion cell evaluation, helping save colons in resource-limited settings." — Marc Levitt (clinical) [Ep 4 · 21:35](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1295) - "By pure numbers, 80% of Hirschsprung disease cases are rectosigmoid, so remote pathology evaluation saves many colons." — Marc Levitt (epidemiological) [Ep 4 · 21:35](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1295) - "In settings where patients can be kept well hydrated with easy healthcare access, ileostomy is preferred over colostomy for diversion because colostomy mesentery becomes shortened and inflamed after division, making subsequent pull-through technically difficult with inadequate reach." — Jason Frischer (clinical) [Ep 4 · 22:52](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1372) - "When performing ileostomy for Hirschsprung diversion, frozen section should be done on the ileostomy to ensure it will function." — Jason Frischer (clinical) [Ep 4 · 23:41](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1421) - "If a surgeon does a good job with pull-through using elegant technique, preserving the anal canal, and not overstretching sphincters, the patient will still get some enterocolitis because the continence mechanism is preserved and patients cannot relax their internal sphincter." — Marc Levitt (clinical) [Ep 4 · 24:15](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1455) - "Patients whose sphincters were overstretched during Hirschsprung surgery developed fecal incontinence but never got enterocolitis, demonstrating the relationship between sphincter function and enterocolitis risk." — Marc Levitt (clinical) [Ep 4 · 24:15](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1455) - "A study of Botox injection at one month post-operatively for Hirschsprung disease showed it did not help prevent enterocolitis (negative study published)." — Marc Levitt (clinical) [Ep 4 · 26:10](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1570) - "Cincinnati group is conducting a non-randomized study of Botox injection at the anal sphincter at time of ileostomy closure, with retrospective baseline comparison and prospective data collection currently in mid-30s patients; some patients in the protocol have still developed enterocolitis, so it is not 100% effective." — Jason Frischer (clinical) [Ep 4 · 26:54](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1614) - "Families should be sent home with equipment to irrigate and taught how to irrigate before the pull-through so they can practice, ensuring they know the technique before discharge and avoiding catheter passage through fresh anastomosis post-op day 5." — Jason Frischer (clinical) [Ep 4 · 28:04](https://qa.library.globalcastmd.com/watch/colorectal-quiz-episode-46-13848?t=1684) ## Common questions ### What's changed recently in Down Syndrome? Recent changes in Down syndrome management reflect evolving understanding of outcomes and physiology. Surgical practice has shifted away from routine permanent colostomy: most Down syndrome patients with anorectal malformations achieve bowel control without it, comparable to non-Down syndrome patients. Recognition that Down syndrome patients have a weaker immune barrier has clarified why they experience worse enterocolitis in Hirschsprung disease. Sigmoidectomy for segmental dysmotility has been abandoned based on new data. Diagnostic protocols now emphasize that distal colostogram remains necessary even in Down syndrome, since 5% have fistula despite the typical presentation without one. ### Where do experts disagree on Down Syndrome? Experts disagree on fistula prevalence in Down syndrome anorectal malformation. One expert states that 95% have the no-fistula type, while another recommends distal colostogram in all Down syndrome patients to rule out 5% with fistula—a position implying higher fistula rates than 5%. Additionally, experts differ on management strategy: some advocate colostomy for Down syndrome patients based on presumed absence of fistula, whereas the approach for non-Down syndrome patients may differ. No other major disagreements on Down syndrome management appear in the library's recordings. ## Changelog - Sep 16: 1 item no longer name Down syndrome - Sep 11: 1 item no longer name trisomy 21 - Sep 10: 1 item added automatically - Sep 9: 1 item no longer name Down syndrome - Sep 7: Published again automatically — condition is back above threshold - Sep 7: 3 items added automatically - Sep 7: 13 items no longer name Down syndrome - Sep 7: Unpublished automatically — folded or below threshold - Sep 7: 16 items added automatically --- Educational content from recorded physician discussions — not medical advice. Cite the canonical URL or the ?t= deep link. Policy: https://qa.library.globalcastmd.com/ai