rectal prolapse in autistic children
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Rectal Prolapse in Autistic ChildrenBy R. Van Heest, S. Jones, and M. Giacomantonio
Halifax, Nova Scotia
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ectal prolapse in children is not uncommon, but surgery isarely indicated. In mentally challenged adults and children,ectal prolapse occurs more frequently than in the generalopulation and often requires surgical intervention in theecond to third decade of life. The authors describe 3 chil-ren with autism and mental retardation who presented with
ectal prolapse at an earlier age than would be anticipated Intervention was warranted. The patient had autism, Tourettes syn-
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ournal of Pediatric Surgery, Vol 39, No 4 (April), 2004: pp 643-644
ith mental retardation alone. All 3 children required surgi-al intervention.
Pediatr Surg 39:643-644. © 2004 Elsevier Inc. All rightseserved.
NDEX WORDS: Rectal prolapse, autism, mental retardation.
ECTAL PROLAPSE in children is not uncommonand usually presents as a self-limiting disorder in
hildren less than 4 years of age.1,2 Surgery rarely isndicated. Previous observers have noted that in mentallyhallenged adults and children rectal prolapse occursore frequently than in the general population and more
ften requires surgical intervention.3,4 Rectal prolapseas been described as a developmental rather than aongenital condition that manifests itself over time.5 Thiss indicated by the fact that the average age of patientsho are mentally challenged present with complete rec-
al prolapse in the second to third decade of life.4 In theeneral population, the disorder presents even later inife, most commonly in elderly women.6 We have iden-ified a subset of mentally challenged children who notnly present with rectal prolapse at an early age (withinhe first 2 decades of life), but also have a similariagnostic and Statistical Manual of Mental Disorders
DSM) IV classification, that of autism.
CASE REPORTS
ase 1
A 9-year-old boy presented with rectal prolapse of 4 months dura-ion. The patient had Williams’s syndrome (microcephaly, mentaloderate mental retardation, and coarctation of the aorta) previously
iagnosed. The patient also met the criteria for the DSM IV classifi-ation of autism. Initially, conservative treatments were tried, but theatient was difficult to manage medically because of the fact that as theectal prolapse increased in size, the patient developed the habit ofrectal digging.” Therefore, a sigmoid resection with rectal suspensionithout a protecting colostomy was undertaken. The patient did wellostoperatively with the exception of one episode of self-inflictedroctitis. There was no evidence of reoccurrence of the prolapse at 11ears.
ase 2
This boy presented at 8 years of age with a rectal prolapse. Initially,t was managed with a strict bowel regime. However, by the age of 12t was apparent that the prolapse was intolerable and that a surgical
rome, obsessive compulsive disorder, and mild mental retardationiagnosed in early childhood. The patient underwent a sigmoid resec-ion and rectal suspension. On the sixth postoperative day the patientad anastomotic leak and was treated with a diverting colostomy. Theolostomy was reversed 6 weeks later with no further complicationsnd no reoccurrence of the rectal prolapse 5 years after the procedure.
ase 3
This patient, another 8-year-old boy, presented with a 3-monthistory of rectal prolapse. Again, this patient had autism, developmen-al delay, and attention deficit hyperactivity disorder diagnosed in earlyhildhood. On initial presentation, it was apparent that the prolapse wasausing the patient significant distress, and the patient underwent aigmoid resection, rectal suspension, and appendectomy. The patientas not given a protecting colostomy, and the postoperative course wasneventful. To date there has been no evidence of reoccurrence at 2ears.
DISCUSSION
Rectal prolapse is associated with a number of medicalonditions, such as straining associated with constipa-ion, acute or chronic diarrhea, parasitic and neoplasticiseases of the rectum, malnutrition, cystic fibrosis, andilliams syndrome.7 It is also associated with childrenho have anatomic abnormalities, either congenital asith myelomeningocele or acquired as after a pull-
hrough for Hirschsprungs disease. The developmentallyelayed child is at risk of constipation, resulting from aombination of factors, for example, suppression byigher cortical function.4 Consequently, this group ofatients are at a higher risk of rectal prolapse earlier in
From the Department of General Surgery and Division of Pediatriceneral Surgery, IWK Health Centre, Dalhousie University, Halifax,ova Scotia, Canada.Address reprint requests to Dr Sarah Jones, IWK Health Centre,
ivision of Pediatric General Surgery, 5850 University Ave, Halifax,S B3J 3G9 Canada.© 2004 Elsevier Inc. All rights reserved.0022-3468/04/3904-0032$30.00/0
doi:10.1016/j.jpedsurg.2003.12.028643
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644 VAN HEEST, JONES, AND GIACOMANTONIO
ife.4 We have identified a group of individuals in whichectal prolapse occurred during the first 2 decades of life.ll of these patients have had Autistic disorder (axis I)iagnosed according to the DSM IV classification. Theiagnosis of autism usually is associated with mentaletardation (axis II), and this was certainly the case in ourroup of patients. The diagnostic criteria for autisticisorders are very specific; there must be demonstratedualitative impairment in social interaction and in com-unication and restricted repetitive and stereotyped pat-
erns of behavior. Furthermore, abnormal functioning inhe above areas must be demonstrated before the age ofyears. Williams syndrome is caused by a microdeletionf chromosome 7, causing deletion of the ELN gene thatodes for the structural protein elastin. This elastin de-etion explains some of the characteristics of Williamsyndrome, hoarse voice, bladder and bowel diverticuli,nd rectal prolapse, which occurs in approximately 10%o 15% of patients. The management of rectal prolapsessociated with Williams syndrome appears to be nonop-rative because a review of the literature did not mentionurgical intervention but, rather, bowel management.7
There is no good evidence as to why rectal prolapseccurs in autistic children earlier than in children withental retardation alone. However, what is clear is that
he children do not seem to respond to efforts aimed atinimizing straining with defecation. When prolapse
ccured in this patient population, it was very distressfulor both patients and their caregivers, and it was apparenthat a definitive intervention was necessary.
The surgical procedures reported for the managementf rectal prolapse are many.8 The nature of the prolapsehese children experienced was a full-thickness intussus-eption of the rectum through a very stretched pelvicusculature and anal canal. Resection of the intussus-
epting segments seemed the best definitive option. Therocedure used for all 3 children was full mobilization ofhe rectum and sigmoid colon with resection of enough
ectosigmoid bowel to prevent any significant amount of dREFEREN
ectum 10:141-145, 1967
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owel to be intussuscepted during the defecation effort.his meant leaving no redundant sigmoid loop and yetttaining a tension free anastomosis. The pelvic floor wasot repaired in any way because it was felt that prevent-ng intussusception would allow the normal architecturen an otherwise healthy and well-nourished child toegain its tone and function. The return to normal bowelunction with continence postsurgery seems to havealidated this surgical approach.One of the children had an anastomotic leak that
equired a temporary diverting colostomy. At the time ofolostomy, the anastomosis was found to have a suturehat had torn through. Although the anastomosis wasade without any obvious tension, the weight of the
owl and possibly the efforts of defecation in the post-perative period was enough strain to have led to a tear.he option of a rectopexy along with the rectosigmoid-ctomy as proposed by others 8 may have prevented this,ut during the time of the procedure, fixation of theectum to the presacral area seemed inappropriate be-ause it would have left a longer loop of bowel tontusscept if intussusception were to occur. The use of aoreign material such as polypropylene mesh to helpuspend the rectum seemed unwise in the presence of aesection and anastomosis in a clean but contaminatedeld. The option of a diverting ostomy was considered,ut an attempt was made to minimize further aggravationf already complicated care in these children. A full bowelreparation preoperatively was given to minimize fecalontamination.
We present 3 children with autism and mental retar-ation who presented with rectal prolapse at an earlierge than would be anticipated with the diagnosis ofental retardation alone. The rectal prolapse was full
hickness in nature and unresponsive to nonoperativeeasures. Full mobilization of the rectum and sigmoid
olon with resection of bowel sufficient to minimizeurther intussusception and prolapse seems appropriate
efinitive management in these cases.CES
1. Qust N, Rasmussen L, Klassaborg KE, et al: Rectal prolapse innfancy: Conservative versus operative treatment. J Pediatr Surg 21:87-888, 19862. Dorman ML: Rectal prolapse in children. Dis Colon Rectum
8:535-539, 19853. Frederick WC, Hammond J, Almeda IC: Surgery in the mentally
etarded. Am Surg 36:533-537, 19704. Daseler EH: Rectal prolapse in the mentally retarded. Dis Colon
5. Bishop PR, Nowicki MJ: Defecation disorders in the neurologi-ally impaired child. Pediatric Annals 28:322-329, 1999
6. Rectal prolapse. Lancet 338:(8767):605-606, 19917. Policy Statement: American Academy of Pediatrics: Health Care
upervision for children with Williams syndrome (RE0034). Pediatrics07:1192-1204, 20018. Corman ML, Garred JL, Holder TM, et al: Rectal Prolapse:
7-year experience with the posterior repair and suspension. J Pediatr
urg 25:992-995, 1990