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Rectal prolapse in autistic children
Rectal Prolapse in Autistic Children By R. Van Heest, S. Jones, and M. Giacomantonio Halifax, Nova Scotia
Rectal prolapse in children is not uncommon, but surgery is rarely indicated. In mentally challenged adults and children, rectal prolapse occurs more frequently than in the general population and often requires surgical intervention in the second to third decade of life. The authors describe 3 children with autism and mental retardation who presented with rectal prolapse at an earlier age than would be anticipated
with mental retardation alone. All 3 children required surgical intervention. J Pediatr Surg 39:643-644. © 2004 Elsevier Inc. All rights reserved.
R
drome, obsessive compulsive disorder, and mild mental retardation diagnosed in early childhood. The patient underwent a sigmoid resection and rectal suspension. On the sixth postoperative day the patient had anastomotic leak and was treated with a diverting colostomy. The colostomy was reversed 6 weeks later with no further complications and no reoccurrence of the rectal prolapse 5 years after the procedure.
ECTAL PROLAPSE in children is not uncommon and usually presents as a self-limiting disorder in children less than 4 years of age.1,2 Surgery rarely is indicated. Previous observers have noted that in mentally challenged adults and children rectal prolapse occurs more frequently than in the general population and more often requires surgical intervention.3,4 Rectal prolapse has been described as a developmental rather than a congenital condition that manifests itself over time.5 This is indicated by the fact that the average age of patients who are mentally challenged present with complete rectal prolapse in the second to third decade of life.4 In the general population, the disorder presents even later in life, most commonly in elderly women.6 We have identified a subset of mentally challenged children who not only present with rectal prolapse at an early age (within the first 2 decades of life), but also have a similar Diagnostic and Statistical Manual of Mental Disorders (DSM) IV classification, that of autism. CASE REPORTS
Case 1 A 9-year-old boy presented with rectal prolapse of 4 months duration. The patient had Williams’s syndrome (microcephaly, mental moderate mental retardation, and coarctation of the aorta) previously diagnosed. The patient also met the criteria for the DSM IV classification of autism. Initially, conservative treatments were tried, but the patient was difficult to manage medically because of the fact that as the rectal prolapse increased in size, the patient developed the habit of “rectal digging.” Therefore, a sigmoid resection with rectal suspension without a protecting colostomy was undertaken. The patient did well postoperatively with the exception of one episode of self-inflicted proctitis. There was no evidence of reoccurrence of the prolapse at 11 years.
Case 2 This boy presented at 8 years of age with a rectal prolapse. Initially, it was managed with a strict bowel regime. However, by the age of 12 it was apparent that the prolapse was intolerable and that a surgical intervention was warranted. The patient had autism, Tourettes synJournal of Pediatric Surgery, Vol 39, No 4 (April), 2004: pp 643-644
INDEX WORDS: Rectal prolapse, autism, mental retardation.
Case 3 This patient, another 8-year-old boy, presented with a 3-month history of rectal prolapse. Again, this patient had autism, developmental delay, and attention deficit hyperactivity disorder diagnosed in early childhood. On initial presentation, it was apparent that the prolapse was causing the patient significant distress, and the patient underwent a sigmoid resection, rectal suspension, and appendectomy. The patient was not given a protecting colostomy, and the postoperative course was uneventful. To date there has been no evidence of reoccurrence at 2 years.
DISCUSSION
Rectal prolapse is associated with a number of medical conditions, such as straining associated with constipation, acute or chronic diarrhea, parasitic and neoplastic diseases of the rectum, malnutrition, cystic fibrosis, and Williams syndrome.7 It is also associated with children who have anatomic abnormalities, either congenital as with myelomeningocele or acquired as after a pullthrough for Hirschsprungs disease. The developmentally delayed child is at risk of constipation, resulting from a combination of factors, for example, suppression by higher cortical function.4 Consequently, this group of patients are at a higher risk of rectal prolapse earlier in From the Department of General Surgery and Division of Pediatric General Surgery, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada. Address reprint requests to Dr Sarah Jones, IWK Health Centre, Division of Pediatric General Surgery, 5850 University Ave, Halifax, NS B3J 3G9 Canada. © 2004 Elsevier Inc. All rights reserved. 0022-3468/04/3904-0032$30.00/0 doi:10.1016/j.jpedsurg.2003.12.028 643
644
VAN HEEST, JONES, AND GIACOMANTONIO
life.4 We have identified a group of individuals in which rectal prolapse occurred during the first 2 decades of life. All of these patients have had Autistic disorder (axis I) diagnosed according to the DSM IV classification. The diagnosis of autism usually is associated with mental retardation (axis II), and this was certainly the case in our group of patients. The diagnostic criteria for autistic disorders are very specific; there must be demonstrated qualitative impairment in social interaction and in communication and restricted repetitive and stereotyped patterns of behavior. Furthermore, abnormal functioning in the above areas must be demonstrated before the age of 3 years. Williams syndrome is caused by a microdeletion of chromosome 7, causing deletion of the ELN gene that codes for the structural protein elastin. This elastin deletion explains some of the characteristics of Williams syndrome, hoarse voice, bladder and bowel diverticuli, and rectal prolapse, which occurs in approximately 10% to 15% of patients. The management of rectal prolapse associated with Williams syndrome appears to be nonoperative because a review of the literature did not mention surgical intervention but, rather, bowel management.7 There is no good evidence as to why rectal prolapse occurs in autistic children earlier than in children with mental retardation alone. However, what is clear is that the children do not seem to respond to efforts aimed at minimizing straining with defecation. When prolapse occured in this patient population, it was very distressful for both patients and their caregivers, and it was apparent that a definitive intervention was necessary. The surgical procedures reported for the management of rectal prolapse are many.8 The nature of the prolapse these children experienced was a full-thickness intussusception of the rectum through a very stretched pelvic musculature and anal canal. Resection of the intussuscepting segments seemed the best definitive option. The procedure used for all 3 children was full mobilization of the rectum and sigmoid colon with resection of enough rectosigmoid bowel to prevent any significant amount of
bowel to be intussuscepted during the defecation effort. This meant leaving no redundant sigmoid loop and yet attaining a tension free anastomosis. The pelvic floor was not repaired in any way because it was felt that preventing intussusception would allow the normal architecture in an otherwise healthy and well-nourished child to regain its tone and function. The return to normal bowel function with continence postsurgery seems to have validated this surgical approach. One of the children had an anastomotic leak that required a temporary diverting colostomy. At the time of colostomy, the anastomosis was found to have a suture that had torn through. Although the anastomosis was made without any obvious tension, the weight of the bowl and possibly the efforts of defecation in the postoperative period was enough strain to have led to a tear. The option of a rectopexy along with the rectosigmoidectomy as proposed by others 8 may have prevented this, but during the time of the procedure, fixation of the rectum to the presacral area seemed inappropriate because it would have left a longer loop of bowel to intusscept if intussusception were to occur. The use of a foreign material such as polypropylene mesh to help suspend the rectum seemed unwise in the presence of a resection and anastomosis in a clean but contaminated field. The option of a diverting ostomy was considered, but an attempt was made to minimize further aggravation of already complicated care in these children. A full bowel preparation preoperatively was given to minimize fecal contamination. We present 3 children with autism and mental retardation who presented with rectal prolapse at an earlier age than would be anticipated with the diagnosis of mental retardation alone. The rectal prolapse was full thickness in nature and unresponsive to nonoperative measures. Full mobilization of the rectum and sigmoid colon with resection of bowel sufficient to minimize further intussusception and prolapse seems appropriate definitive management in these cases.
REFERENCES 1. Qust N, Rasmussen L, Klassaborg KE, et al: Rectal prolapse in infancy: Conservative versus operative treatment. J Pediatr Surg 21: 887-888, 1986 2. Dorman ML: Rectal prolapse in children. Dis Colon Rectum 28:535-539, 1985 3. Frederick WC, Hammond J, Almeda IC: Surgery in the mentally retarded. Am Surg 36:533-537, 1970 4. Daseler EH: Rectal prolapse in the mentally retarded. Dis Colon Rectum 10:141-145, 1967
5. Bishop PR, Nowicki MJ: Defecation disorders in the neurologically impaired child. Pediatric Annals 28:322-329, 1999 6. Rectal prolapse. Lancet 338:(8767):605-606, 1991 7. Policy Statement: American Academy of Pediatrics: Health Care supervision for children with Williams syndrome (RE0034). Pediatrics 107:1192-1204, 2001 8. Corman ML, Garred JL, Holder TM, et al: Rectal Prolapse: 17-year experience with the posterior repair and suspension. J Pediatr Surg 25:992-995, 1990
Rectal prolapse in children is not uncommon, but surgery is rarely indicated. In mentally challenged adults and children, rectal prolapse occurs more frequently than in the general population and often requires surgical intervention in the second to third decade of life. The authors describe 3 children with autism and mental retardation who presented with rectal prolapse at an earlier age than would be anticipated
with mental retardation alone. All 3 children required surgical intervention. J Pediatr Surg 39:643-644. © 2004 Elsevier Inc. All rights reserved.
R
drome, obsessive compulsive disorder, and mild mental retardation diagnosed in early childhood. The patient underwent a sigmoid resection and rectal suspension. On the sixth postoperative day the patient had anastomotic leak and was treated with a diverting colostomy. The colostomy was reversed 6 weeks later with no further complications and no reoccurrence of the rectal prolapse 5 years after the procedure.
ECTAL PROLAPSE in children is not uncommon and usually presents as a self-limiting disorder in children less than 4 years of age.1,2 Surgery rarely is indicated. Previous observers have noted that in mentally challenged adults and children rectal prolapse occurs more frequently than in the general population and more often requires surgical intervention.3,4 Rectal prolapse has been described as a developmental rather than a congenital condition that manifests itself over time.5 This is indicated by the fact that the average age of patients who are mentally challenged present with complete rectal prolapse in the second to third decade of life.4 In the general population, the disorder presents even later in life, most commonly in elderly women.6 We have identified a subset of mentally challenged children who not only present with rectal prolapse at an early age (within the first 2 decades of life), but also have a similar Diagnostic and Statistical Manual of Mental Disorders (DSM) IV classification, that of autism. CASE REPORTS
Case 1 A 9-year-old boy presented with rectal prolapse of 4 months duration. The patient had Williams’s syndrome (microcephaly, mental moderate mental retardation, and coarctation of the aorta) previously diagnosed. The patient also met the criteria for the DSM IV classification of autism. Initially, conservative treatments were tried, but the patient was difficult to manage medically because of the fact that as the rectal prolapse increased in size, the patient developed the habit of “rectal digging.” Therefore, a sigmoid resection with rectal suspension without a protecting colostomy was undertaken. The patient did well postoperatively with the exception of one episode of self-inflicted proctitis. There was no evidence of reoccurrence of the prolapse at 11 years.
Case 2 This boy presented at 8 years of age with a rectal prolapse. Initially, it was managed with a strict bowel regime. However, by the age of 12 it was apparent that the prolapse was intolerable and that a surgical intervention was warranted. The patient had autism, Tourettes synJournal of Pediatric Surgery, Vol 39, No 4 (April), 2004: pp 643-644
INDEX WORDS: Rectal prolapse, autism, mental retardation.
Case 3 This patient, another 8-year-old boy, presented with a 3-month history of rectal prolapse. Again, this patient had autism, developmental delay, and attention deficit hyperactivity disorder diagnosed in early childhood. On initial presentation, it was apparent that the prolapse was causing the patient significant distress, and the patient underwent a sigmoid resection, rectal suspension, and appendectomy. The patient was not given a protecting colostomy, and the postoperative course was uneventful. To date there has been no evidence of reoccurrence at 2 years.
DISCUSSION
Rectal prolapse is associated with a number of medical conditions, such as straining associated with constipation, acute or chronic diarrhea, parasitic and neoplastic diseases of the rectum, malnutrition, cystic fibrosis, and Williams syndrome.7 It is also associated with children who have anatomic abnormalities, either congenital as with myelomeningocele or acquired as after a pullthrough for Hirschsprungs disease. The developmentally delayed child is at risk of constipation, resulting from a combination of factors, for example, suppression by higher cortical function.4 Consequently, this group of patients are at a higher risk of rectal prolapse earlier in From the Department of General Surgery and Division of Pediatric General Surgery, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada. Address reprint requests to Dr Sarah Jones, IWK Health Centre, Division of Pediatric General Surgery, 5850 University Ave, Halifax, NS B3J 3G9 Canada. © 2004 Elsevier Inc. All rights reserved. 0022-3468/04/3904-0032$30.00/0 doi:10.1016/j.jpedsurg.2003.12.028 643
644
VAN HEEST, JONES, AND GIACOMANTONIO
life.4 We have identified a group of individuals in which rectal prolapse occurred during the first 2 decades of life. All of these patients have had Autistic disorder (axis I) diagnosed according to the DSM IV classification. The diagnosis of autism usually is associated with mental retardation (axis II), and this was certainly the case in our group of patients. The diagnostic criteria for autistic disorders are very specific; there must be demonstrated qualitative impairment in social interaction and in communication and restricted repetitive and stereotyped patterns of behavior. Furthermore, abnormal functioning in the above areas must be demonstrated before the age of 3 years. Williams syndrome is caused by a microdeletion of chromosome 7, causing deletion of the ELN gene that codes for the structural protein elastin. This elastin deletion explains some of the characteristics of Williams syndrome, hoarse voice, bladder and bowel diverticuli, and rectal prolapse, which occurs in approximately 10% to 15% of patients. The management of rectal prolapse associated with Williams syndrome appears to be nonoperative because a review of the literature did not mention surgical intervention but, rather, bowel management.7 There is no good evidence as to why rectal prolapse occurs in autistic children earlier than in children with mental retardation alone. However, what is clear is that the children do not seem to respond to efforts aimed at minimizing straining with defecation. When prolapse occured in this patient population, it was very distressful for both patients and their caregivers, and it was apparent that a definitive intervention was necessary. The surgical procedures reported for the management of rectal prolapse are many.8 The nature of the prolapse these children experienced was a full-thickness intussusception of the rectum through a very stretched pelvic musculature and anal canal. Resection of the intussuscepting segments seemed the best definitive option. The procedure used for all 3 children was full mobilization of the rectum and sigmoid colon with resection of enough rectosigmoid bowel to prevent any significant amount of
bowel to be intussuscepted during the defecation effort. This meant leaving no redundant sigmoid loop and yet attaining a tension free anastomosis. The pelvic floor was not repaired in any way because it was felt that preventing intussusception would allow the normal architecture in an otherwise healthy and well-nourished child to regain its tone and function. The return to normal bowel function with continence postsurgery seems to have validated this surgical approach. One of the children had an anastomotic leak that required a temporary diverting colostomy. At the time of colostomy, the anastomosis was found to have a suture that had torn through. Although the anastomosis was made without any obvious tension, the weight of the bowl and possibly the efforts of defecation in the postoperative period was enough strain to have led to a tear. The option of a rectopexy along with the rectosigmoidectomy as proposed by others 8 may have prevented this, but during the time of the procedure, fixation of the rectum to the presacral area seemed inappropriate because it would have left a longer loop of bowel to intusscept if intussusception were to occur. The use of a foreign material such as polypropylene mesh to help suspend the rectum seemed unwise in the presence of a resection and anastomosis in a clean but contaminated field. The option of a diverting ostomy was considered, but an attempt was made to minimize further aggravation of already complicated care in these children. A full bowel preparation preoperatively was given to minimize fecal contamination. We present 3 children with autism and mental retardation who presented with rectal prolapse at an earlier age than would be anticipated with the diagnosis of mental retardation alone. The rectal prolapse was full thickness in nature and unresponsive to nonoperative measures. Full mobilization of the rectum and sigmoid colon with resection of bowel sufficient to minimize further intussusception and prolapse seems appropriate definitive management in these cases.
REFERENCES 1. Qust N, Rasmussen L, Klassaborg KE, et al: Rectal prolapse in infancy: Conservative versus operative treatment. J Pediatr Surg 21: 887-888, 1986 2. Dorman ML: Rectal prolapse in children. Dis Colon Rectum 28:535-539, 1985 3. Frederick WC, Hammond J, Almeda IC: Surgery in the mentally retarded. Am Surg 36:533-537, 1970 4. Daseler EH: Rectal prolapse in the mentally retarded. Dis Colon Rectum 10:141-145, 1967
5. Bishop PR, Nowicki MJ: Defecation disorders in the neurologically impaired child. Pediatric Annals 28:322-329, 1999 6. Rectal prolapse. Lancet 338:(8767):605-606, 1991 7. Policy Statement: American Academy of Pediatrics: Health Care supervision for children with Williams syndrome (RE0034). Pediatrics 107:1192-1204, 2001 8. Corman ML, Garred JL, Holder TM, et al: Rectal Prolapse: 17-year experience with the posterior repair and suspension. J Pediatr Surg 25:992-995, 1990