Autism, the Tummy, the Brain Gut Connection... No One Solution

Autism and the tummy, the brain gut connection, getting help wasn't easy. 

The Problem: Nicky’s had tummy problems and allergic reactions since birth.

His History, the symptoms: He was delivered by c-section and while in the hospital everyone commented that he seemed to always be thirsty. When we got home he cried and cried after each feeding. I went back and forth between nursing and special dietary formulas and nothing helped. Nicky spit up and cried constantly. There were days I changed cloths every hour because I was soaked with baby up chuck from my shoulders to my waste! He cried so much he developed a herniated belly button. He was covered with rashes, suffered from sleep deprivation and weight loss. We visited doctor after doctor and never got an answer. Colic, food sensitivities, an allergic reaction to something I was eating that was showing up in my milk and fussy baby were just a few of the possible answers. The only relief came in the form of a nurse who took pity on us when she saw Nicky’s herniated belly button and heard our stories including his impending surgery to repair his hernia. She suggested an old family remedy; secure his belly button under a silver dollar taped to this tummy. She told us how she had seen her grandma do it and the kids stopped pushing it out and it healed. I was willing to try anything and since this did not sound dangerous I decided to give it a try. I found a silver dollar and attached it with some heavy tape and IT WORKED, his hernia began to heal. It was the first thing we did, that worked. I remember thinking “Thank God” for the grandma’s of the world.

After many months the symptoms reduced, they did not disappear, but they lessened. We had good days and things seemed headed in the direction of normal. However it was not to be, as his stomach problems were replaced by ear infections and finally pneumonia. When he recovered from his pneumonia he was withdrawn, he no longer spoke and he had no interest in interacting with any of us. He had begun his decent into autism. A few months later he was diagnosed with ASD and then he developed diarrhea that lasted for 2 years.

The Medical Shortfall - After his ASD diagnosis, in addition to all the doctors and therapist we visited for the treatment of autism, we saw several Pediatric Gastroenterologist. They all acknowledged that they were seeing more kids with ASD with similar symptoms, but they did not know the answers. Basically, they could run the tests they had, but they doubted that their tests would lead to a solution. They ran the tests and they were in-conclusive. They always checked for Celiac, which never showed anything and they would run other tests typically associated with his symptoms and they didn’t show anything either.

Finally Help in the form of Bio-Med: I kept telling people about my struggle and finally I was told about a doctor who was both a neurologist and a psychiatrist who was helping our kids with gut problems and allergies. This doctor, Jacqueline McCandless was certain that there was a brain gut connection in autism and she thought she could help. She explained that because of the diarrhea Nicky was not getting even basic nutrition, because nutrients could not be absorbed and distributed through the body, including the brain, through intestines that were swollen. She ran a truck load of tests, gave Nicky some probiotics, a liquid vitamin supplement and asked that we limit his diet to only a few fresh foods. We choose his favorites chicken and potatoes. In two weeks his diarrhea was gone!In the months to come under her direction we implemented much of the WFGF and DAN diets and protocols’. In the end Nicky did not respond to most of the protocols, but I was always grateful that she was able to stop his diarrhea and improve his general health. Nicky's behaviors did improve, but I believe the improvement was directly related to him not having stomach aches everyday. Which I know would make me cranky!

Dr. McCandless wrote a book on this subject and later retired, forcing me to look for a new bio medical doctor or practitioner. I tried several but I never felt confident. They were either too quick to offer “cookie cutter” treatment plans complete with expensive medicines they dispensed from their own back rooms (which may have been okay but I always got that Amway salesman feeling) and/or they lacked professional follow up. I am sure there are others like Dr. McCandless, but I did not find them. Since that time I have acted on several referrals to Pediatric Gastroenterologists who were credited as “understanding our special kids”. Each time I was disappointed as they began by testing for Celiac!!!!

Yahoo a Pediatric Gastroenterologist who get’s it! Seems time and science both march forward. Nicky has continued to have gut problems and allergy problems that have gone unsolved. Yesterday, at the recommendation of Nicky’s neurologist, we met a new Pediatric Gastroenterologist. She was fantastic. She did not begin by ordering a test for Celiac disease and she listened. She was interested to hear about Nicky’s stomach problems since birth. She expressed her certainly that there is a brain gut autism connection and that she believes these kids can be helped. She agreed that we have to do what we can to keep our kids off of antibiotics as they do so much damage to the gut and immune defense (resulting in vicious cycles of illness). She wants to move slowly and work closely with me as we take baby steps to see if we can get his gut healthy. We are going to start by cleaning him out (x rays and a exam show that he is filled with poo) and then we are going to begin to bring balance to his tummy with prebotics. I feel encouraged and I will let you all know how it goes.

What I learned:

1. The medical community did not understand the connection of autism and the immune system. Although I had friends tell me that autism was auto immune illness and the more serious auto immune diseases in the immediate family of a child with autism, the worst the autism was, the medical community did not acknowledge this. Therefore they could not treat it.
2. The medical community at large did not have the tests that would make it possible for them to find answers for our kids
3. Bio med is not the solution for everyone although aspects may work for each child. You have to take on child at a time.
4. This is not a one size fits all illness. Just because a treatment works on one

child does not mean it would work the same on another. No two kids can be compared to each other when it comes to treatment. Each has to be watched closely to see what they respond to.

5. It can be really hard to figure out what is working when you are doing more than one type of intervention (which I always was) or there are major changes going on in a child’s life or routine. When we are doing intensive behavior intervention, medical intervention, and drug therapy we have to pay very close attention to what we introduce and when if we want to measure any type of progress.

There may be hundreds of varieties of autism

In the first year after Nicky was diagnosed I wanted more than anything to know what the future held. What would my Nicky look like in 3 years, 5 years as an adult? As I visited classrooms and programs I would focus in on the ASD kids and each time I imagined they were Nicky. I cried when I saw the kids who were severe and I felt increased hope when I saw the high functioning children. Through my eyes they were all Nicky, because I just didn’t know. How would he respond to therapy, how much would the autism impact his life, would he get better, would he be self sufficient? I wanted to find a kid just like him who could be my model. I remember thinking if I could just find a kid who presented just like Nicky, was a few years older, had the same intervention, I would have a road map. I could make a plan, I could learn what might work, I could prepare for the future. But such a kid NEVER materialized. There were lots of kids with ASD tendencies and behaviors similar to Nicky, but the severity and the intensities were different in each of them. In addition they all had different medical challenges. Nicky had severe food allergies and a seizure disorder. Some of the kids never developed typically, some developed slowly and my Nicky was talking and interacting and regressed almost overnight. Finally I learned that the kids seemed to fall into groups, but even within the groups there were no two alike. Just like all of the rest of us, we are all individuals and so are our kids.

In hindsight, I am grateful that I never found such a kid, because such a child might have given me amazing hope, or a caused me to accept a false future. Without any model I was forced to live one day at a time, and do all that I could everyday.

Knowing how different all of the children were I’ve always thought we must be dealing with more than one kind of autism, or different diseases/disorders that just had shared characteristics of autism. It just didn't seem possible that all the children I met with ASD had exactly the same disease or disorder. So for years I’ve been fussing about this and waiting for science to respond. Today I found this article science is beginning to understand these difference, as they agree that there are probably hundreds of different types of autism. Seems to me this is a big step, maybe not toward a cure, but toward getting each of our children the individual care they deserve.

It’s a good read. Enjoy

New Clues to Autism's Cause

Thursday, Jul. 10, 2008 By CLAUDIA WALLIS

A participant eats during a day program for autistic adults.

What exactly is going awry in the brains of people who have autism? The answer is very slowly coming into focus. A paper published in the current issue of Science by researchers at Children's Hospital Boston and members of the Boston-based Autism Consortium identifies five new autism-related gene defects. Already, more than a dozen genetic defects have been found to be associated with autism spectrum disorders, which affect about 1 in 150 children, according to the Centers for Disease Control and Prevention. But the good news, say the Boston researchers, is that many of the genes are beginning to fit into a pattern. "While it might seem discouraging that it's a growing list of genes, we can be encouraged that a common pathway is emerging," says Dr. Christopher Walsh, chief of genetics at Children's Hospital Boston and an author of the paper.

Researchers looked at autism-related genes found in large families in the Middle East and Turkey. Big families in which cousins sometimes marry cousins are ideal for studying recessive genes. Though the newly identified genes are located in far-flung regions on the 23 human chromosomes, they are related in function: most play a role in learning. These genes are active in creating, reinforcing or modifying synaptic pathways in the brain — physical and biochemical changes that occur when we learn something new. The implication of this work is that autism may fundamentally amount to molecular defects in learning.

Symptoms of autism typically emerge during the first five years of life — a period when a child normally picks up language, social skills and many other new abilities. Scientists call this kind of growth "experience-dependent learning," and researchers know that it is associated with enormous changes in brain circuitry. At least 300 genes switch on and off to regulate experience-dependent learning. Defects in any number of them could conceivably result in some symptoms of autism. There may be hundreds of varieties of autism. From what researchers have seen so far, says Morrow, "It looks like almost every child with autism is different from the next — a different gene is mutated in almost every child."

One encouraging finding: most of the genetic defects identified in the Middle Eastern families were not in the business part of the gene — the part that codes for a critical brain protein. Instead the defects lay mainly in adjacent regions that turn the gene fully or partially on and off. This suggests that certain therapies or drugs could help normalize the activity of these genes, according to Dr. Eric Morrow of Massachusetts General Hospital, one of the lead authors of the paper. In fact, Morrow suspects that early intervention programs for children with autism involving intensive instruction in speech and social behavior may work by altering the expression of affected genes. (This idea is supported by research with mice, which has shown that providing a rich, stimulating environment directly affects gene expression in the brain.)

Autism, like most mental disorders, is largely defined by external behaviors rather than a clear biological understanding. Genetic studies like this one, observes Morrow, "offer a fantastic opportunity to define the pathology." To begin to give an explanation to families, he says, "is a big deal."

New Ways to Diagnose Autism Earlier

We all hear that the sooner we get a diagnosis and early intervention the more we will be able to minimize the impact of Autism on our kids. When I first began hearing this, I felt that so many of us were between a rock and a hard space because the hope was there but the knowledge our professionals and communities needed to help our kids get the early diagnosis was not. I worked with the CDC distributing information for their "Learn The Signs, Act Early" program and through Special Needs Network distributing developmental guidelines to families. However we were all working on a grass roots level as most professionals and institutions were just catching on and research data was limited. I know things are getting better as major grants for research have been distributed and organizations like Autism Speaks are aggressively funding research. Today I came across an article that shows how Yale is using new technology to help detect autism earlier. I know this won't impact my son (who was diagnosed at 2) but it is going to help other kids, and who knows maybe even my grandkids! So, it's encouraging and lord knows encouragement, any encouragement is good. It's a good read. Enjoy

New Ways to Diagnose Autism Earlier

Detection at Younger Ages Leads to Greater
Gains in Language And IQ; Predicting Risk
With Eye-Movement Sensors

By JEREMY SINGER-VINE
July 8, 2008; Page D1

With the number of autistic children growing, researchers are targeting new technologies to help detect the disorder at ever-younger ages in hopes of reversing some of autism's worst symptoms.

Most autistic children currently aren't diagnosed until they are about 4 years old, using conventional detection methods of observing behavior. Although specialists are able to identify the condition starting at about 30 months, most parents don't seek evaluations that early because they don't notice anything unusual about their children, or don't know what symptoms to look for. Now, scientists are using new techniques to study children as young as a few months old for signs of possible autism and to flag them for more extensive analysis.

By identifying children early who may be at risk of developing autism, even without a definitive diagnosis, parents can consider initiating behavioral therapy, the most widely validated treatment for the condition. Studies of autistic children indicate that preschool-age kids receiving intensive treatment show greater gains in language and IQ scores than children whose treatment begins at older ages. Behavioral therapy includes such measures as encouraging children to look at people's faces, express emotions and curtail any repetitive tics. But diagnosis and therapy can be expensive, and insurance coverage for autism treatment is spotty, especially for early intervention.

Researchers at Canada's McMaster University recently announced that they had developed a computerized test using eye-movement sensors that aims to predict the risk of autism in children as young as 9 months. The system, which administers five eye-tracking tests over 10 minutes, measures the direction and fixation of a child's eyes when confronted with computerized images, including human faces.

AUTISM INFORMATION ON THE WEB

Studies of very young children:

• The Early Autism Study, McMaster University

• Yale University's Toddler Developmental Disabilities Clinic

• The Groden Center

• University of California, Davis M.I.N.D. Institute

• The Kennedy Krieger Institute Center for Autism and Related Disorders (CARD)

Information on what parents should look for:

• Learn the Signs. Act Early

• Autism Spectrum Disorders Fact Sheet

• First Signs

• First Words Project

Autism advocacy groups:

• Autism Speaks

• Autistic Self-Advocacy Network

• National Autism Association

• Autism One

• Autism Society of America

Yale University's Toddler Developmental Disabilities Clinic is using similar eye-tracking technology to study patterns in gaze behavior in children ages 3 months to 3 years. And researchers at the Massachusetts Institute of Technology's Media Lab are developing specialized software and an in-home recording device to analyze the habits of newborns in hopes of teasing out the most subtle signs of early autism.

"Children with autism in general have difficulty extracting affective information from faces, and also difficulty in recognizing faces," says Katarzyna Chawarska, director of the Yale clinic. By tracking eye movements, "we can begin to understand what interests them, how they examine objects they select for processing, and what motivates them intrinsically," she says.

The Yale clinic has been monitoring 17-month-old Caleb Scott from birth. The fact that Caleb's older brother is autistic raises the odds that Caleb could also develop the disorder. After conducting more standard autism evaluations, Dr. Chawarska's team tracks Caleb's eyes as he looks at clips from "Sesame Street" and images of different faces. The perceptual patterns are encouraging, says Caleb's mother, Katie Scott, of Naugatuck, Conn. "I see him watching the eyes and the mouth, I see him looking at the right-side-up face instead of the upside-down one. All of that gave me hope right away."

But eye-tracking won't pick out all children with autism. That's because the disorder can manifest itself in a variety of ways at different ages, such as a child not responding when called or failing to exhibit normal body gestures. Some children also won't cooperate with the eye-tracking equipment.

A GROWING DISORDER

Scientists have begun looking for signs of autism in children as young as a few months.

• Diagnosis allows parents to initiate behavioral therapy, a common treatment that is more effective early in life.

• The disorder is found in one out of every 150 children by the time they turn 8 years old.

• The cost of diagnosis and therapy can be high, and insurance coverage is spotty.

Autism specialists say the new technologies can provide useful clues in assessing the disorder, but a proper diagnosis requires human observation to consider a range of possible symptoms. "There is something about a clinician that adds to the predictive value," says Catherine E. Lord, director of the University of Michigan Autism and Communication Disorders Center. In the 1980s, Dr. Lord led the team that developed the Autism Diagnostic Observation Schedule, which has become the standard assessment for autism.

In traditional autism screening, clinicians observe children as they complete a set of human- and object-oriented tasks. Typical symptoms include aversion to normal social interaction, delays in language development, repetitive actions and sometimes self-abuse. There is no known medical cure.

While most experts agree that there is a biological, and perhaps heritable, basis to autism, no available genetic or blood test can diagnose it. The high-tech researchers say that their tools are not meant to replace traditional diagnoses, but rather to complement them by screening children earlier and recommending probable cases for more-comprehensive assessments.

"By providing very intensive early intervention, we can significantly reduce the symptoms of autism," says Geraldine Dawson, chief science officer of advocacy group Autism Speaks. But "there is huge variation in how children respond to early intervention."

Autism spectrum disorders, including Asperger's syndrome, affect about 560,000 Americans under 21, according to the Centers for Disease Control and Prevention. The disorder is found in one out of every 150 children by the time they are 8 years old, more than 10 times the reported rate in the 1980s, the CDC says. Autism experts are divided whether the rising number of cases is due to an actual higher occurrence, a loosening of diagnostic standards or greater screening frequency.

Recently, some advocacy groups, such as the Autistic Self-Advocacy Network, have spoken out against a search for a cure -- arguing instead that others should accept autistic people as they are. "We are very supportive of early diagnosis and early education," says Ari Ne'eman, the group's president. "We shouldn't be trying to force normalcy on autistic children, but rather help children acquire skills, communication, and quality of life," he says.

Annie Shic/Yale University

A toddler participates in an experiment designed to study the preference for direct gaze, the common response in healthy children.

Researchers say McMaster University's study to assess risk of autism was the first to find statistically significant differences in children at such a young age. The study (at earlyautismstudy.org) conducted eye-tracking tests on 43 children. Of these, 13 children had siblings with autism, which increases the risk of having the disorder eightfold. The children were shown a series of images and were scored based on their responses; for instance, did a child spend more time looking at a person's eyes or mouth? The group of 13 children at elevated risk showed a significantly lower responsiveness score than did the other group with no known risk.

The study was led by Mel D. Rutherford, director of early autism study at McMaster. She says the initial findings, presented at the International Meeting for Autism Research in London in May, only compare patterns between the two groups of children. But Dr. Rutherford expects that after refining the tools, her lab "will be able to construct a predictor score for each individual infant."

Debbie Page says early action helped her son Gabe, who had a limited vocabulary and was diagnosed with autism at 30 months. Gabe spent six months last year participating in an early-intervention study at the Kennedy Krieger Institute Center for Autism and Related Disorders in the Page's home town of Baltimore.

After 250 hours of intensive behavior therapy, which was free for the Pages because it was part of a study, Ms. Page says Gabe was speaking in three- and four-word sentences. He became more socially engaged and shed several tics, including humming nervously. This year, Gabe will enter a mainstream kindergarten, his mother says. "He came out like a songbird," she says.

Researchers at MIT's Media Lab, who are developing software to analyze videos of autistic children, are collaborating with the Groden Center, a Providence, R.I., school and treatment center for autistic kids. The program, led by Deb Roy, director of the Cognitive Machines Group at the Media Lab, hopes to begin short trial runs in 10 homes by the end of the year. Dr. Roy says that by analyzing common behavioral patterns, he hopes to create a predictive tool for children at risk. He also says the video analysis can help families track progress of a child in therapy.

While early intervention for autism can increase the financial burden on parents, it could potentially reduce costs in the long run if therapy succeeds in reducing an autistic child's symptoms. The average yearly health-care expenditures for a child with autism or a related disorder were nearly $6,000 in 2004, according to a study by Yale University researchers released last year. Specialized private schools for autistic children can cost about $60,000 a year.

Ms. Scott, in Connecticut, says she paid $5,000 to have her first child, John Jules, diagnosed for autism, but Caleb's visits to the Yale study are free. She says insurance helped pay for speech and eating therapy and a Connecticut program for children with developmental disorders provides nearly-free specialist visits for additional treatment. But Ms. Scott says her family can't afford to send the kids to a specialized private school for autistic children.

Just eight states have passed bills mandating coverage by private insurers for autism and related disorders, including a Pennsylvania bill that awaits the governor's signature. (For a list of states, go to autismvotes.org and click the State Initiatives tab.) Currently, 27 additional states are working on autism initiatives, says Elizabeth Emken, vice president of government relations for Autism Speaks.

Write to Jeremy Singer-Vine at jeremy.singer-vine@wsj.com