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Interviewer: One in 5,000 children in America develop an anorectal malformation. What is that, how is it treated, and results you can expect on today's Scope.

Announcer: Health information from experts supported by research. From Ï㽶ÊÓƵ of Utah Health, this is thescoperadio.com.

Interviewer: We're here with Dr. Michael D. Rollins, Professor of Surgery in the Division of Pediatric Surgery at the Ï㽶ÊÓƵ of Utah Medical School and Primary Children's Hospital. We're talking about congenital colorectal disorders, specifically anorectal malformations. So, Dr. Rollins, what are some of these conditions, and what does it mean for the child?

Dr. Rollins: Basically, an anorectal malformation is when a child is born with an anal opening anywhere other than the normal location within the center of the anal sphincter complex. This may be an opening of the rectum on the bottom or perineum, which is anterior to the sphincter complex, or in a boy, the rectum could open into the urinary tract, such as the bladder or the urethra, or in a female, the opening could be into the back of the vagina. The most severe defect that a girl may be born with is where the urethra draining the bladder, the vagina, and the rectum all join together and empty on to the perineum as a single opening or common channel. A child may also be born with a blind-ending rectum and no apparent opening on the perineum.

Interviewer: Dr. Rollins, what causes these types of conditions and malformations?

Dr. Rollins: That's a great question, and it's largely unknown. There are a few syndromes that include anorectal malformations and genetic mutations for those particular syndromes have been identified, but by and large, the cause or the ideology is unknown. There seems to be some familial inheritance, familial contribution to this, 2% to 4% having an affected family member somewhere along their lineage. The incidence in the United States is approximately 1 in 5,000 live births, so that's roughly 800 children a year born with that.

Interviewer: And when does a parent or, you know, a new mother first find out that this condition is developing, and how do you, as doctors, see it?

Dr. Rollins: That's one of the unfortunate parts. Right now, we don't have reliable prenatal detection of this malformation, because most women receive their 20-week ultrasound, and if everything looks good at that point, they don't have follow-up imaging. And these malformations frequently occur later in gestation. So most of the time, these children are born as a complete surprise to the family which, as you might imagine, is pretty overwhelming.

Interviewer: So if most of these are detected after birth, what kind of symptoms would a parent see in their child that would point to one of these malformations?

Dr. Rollins: Fortunately, it's pretty easily picked up on the initial exam on the child by the delivering physician or pediatrician because there's no anal opening, which is one of the things that they routinely check for. As I mentioned earlier, this is a spectrum of malformations, so the anal opening may simply be located outside of the center of the sphincter complex. So a parent or a physician may notice that there is an opening on the bottom, although it might look small, might not look like it's centered where it should be on the bottom. And so those can be a little more difficult to detect. In those patients, that particular malformation is called a perineal fistula. It may be several weeks or even several months before that's diagnosed, and usually, the parents will note or the primary care provider will note that the child is having trouble passing stools.

Interviewer: How do you, as a doctor, as a surgeon, kind of treat these different types of conditions? What are some of the common ways that they're treated?

Dr. Rollins: The more severe malformations, I'll just address those first. So if the rectum is connecting, for instance, to the bladder in a boy or if the rectum is blind-ending, within the first one to two days of life, we create a colostomy so that the child can pass stool into a colostomy bag. Then allow the baby to grow, get older, and then do more definitive imaging to determine the exact location of the rectal fistula, whether it's connecting to the bladder or to the urethra, which drains the bladder somewhere along its course, or in a girl, to the vagina. And then we can make plans for a definitive repair which, depending on the malformation, could happen anywhere from three months of age to a year of life.

Now, the other course of treatment would be if the patient, the baby, does have a perineal fistula, one treatment option that we may use is a dilation of that fistula to dilate it up to where the size is large enough to actually pass stool and then have the parents do that at home until the child has a chance to grow, and then do the repair in a single stage, which would be around three to six months of age. And those that are treated with colostomy first, they'll have their definitive repair, as I mentioned, generally between 3 months to 12 years of age. And then once that repair heals, their colostomy is closed, so they end up with three operations.

Interviewer: And after all of this, these interventions, all these surgeries, all these treatments, what's the aftercare like? How long and what kinds of things do parents need to keep in mind with their child?

Dr. Rollins: Parents need to keep in mind is that this is a lifelong condition and this is a lifelong relationship that they're establishing with their care team. Postoperative care is fairly intense, and the fact that these can be associated with a number of other anomalies of the esophagus, of the spine, of the spinal cord, of the kidneys, of the genital tract, two-thirds of children will have one or more associated anomalies, and so the care requires a multidisciplinary approach. And you know, it's not a one-surgery and you're finished type of problem.

Things that will affect sort of long-term function, the character of the spinal cord and the sacrum or the lower spine, we know that if there are spinal cord malformations or severely abnormal sacrum, that those children have less development of the muscles required for fecal continence and the nerves required. And so they're more likely to be incontinent and will need to be on an intense bowel management program throughout childhood and potentially throughout their life.

Interviewer: So what do you tell parents after their child is diagnosed with the malformation?

Dr. Rollins: I think we've made tremendous strides in treating these kids by approaching this in a multidisciplinary way. Decade or so ago, often the renal anomalies were not recognized or addressed, and those children went on to experience renal insufficiency, renal failure, or even need a renal transplant. Now, you know, by approaching this in a multidisciplinary way, we identify kidney abnormalities, for instance, early, manage them proactively, and avoid renal failure. That's just one area.

The other thing that I want parents to know is that their child can go on to live a completely active life. Even if they are one of the children that suffer from fecal incontinence, we have a structured bowel management program at Primary Children's, and there are other places in the country that have a similar program, we can artificially keep these kids clean and in a normal underwear, with either a large volume enema program or, in some situations, a high-dose laxative program. But we're able to keep them clean and in a normal underwear, and they can spend the night with friends, they can play sports, they can go to camps like their friends.

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