Stories about: ASD

Our patients’ stories: saving “princess” Emily

By Paul Schuster

Emily

Our daughter Emily’s heart defect wasn’t discovered until she was nearly 3 years old. In hindsight, we now know that her numerous illnesses and bouts of pneumonia were a sign that something wasn’t right, but until her diagnosis, we never suspected anything serious. She always had plenty of liveliness and certainly kept us busy with her antics—dancing or singing or getting Daddy to play princess with her… again.

By all counts, she was just our happy, energetic little girl.

Then, during a routine doctor’s visit, a nurse said she heard a murmur in Emily’s heartbeat. We didn’t think too much of it at the time, my wife Carol has a heart murmur, so a second murmur in the family didn’t cause too much worry. However, after the echocardiogram that provided clear images of her heart, we began to understand the gravity of our situation: Emily had a hole in her heart.

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Three studies shed light on effectiveness of autism treatments

April is Autism Awareness Month

For parents raising children with autism, there always seems to be more questions than answers. And with as many as one in every 110 children in the United States being diagnosed with an autism spectrum disorder (ASD), more questions are being asked everyday. Unfortunately, much about ASDs remain a mystery. For starters, researchers don’t know what causes autism. Current theories suggest it may be caused by environmental, biologic and genetic factors, or a combination of all three, but so far no one can prove anything definitively.

And the confusion doesn’t end with the origins of autism. Its treatment can be puzzling as well because there’s no guarantee an intervention that helps one child on the spectrum will work for someone else.

To help clinicians and families better understand the benefits of some ASD interventions, the medical journal Pediatrics recently published three different studies on the effectiveness of certain ASD treatment methods. The use of medication, behavioral interventions and the introduction of a digestive hormone called secretin were all individually examined and reviewed based on their methodology and success in treating ASDs.

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Study shows popular autism diet doesn't help

Eliminating all wheat and dairy products from a child with autism’s diet is a popular alternative therapy.
Eliminating wheat and dairy from a child with autism’s diet is a popular alternative therapy.

Families with kids with autism hear the stories. Someone’s child started stringing words together again, another could sleep through the night in peace. They are the holy grails in the autism world–therapies that, at least anecdotally, have improved lives of children with autism. And for families faced with few effective treatments, other than early behavioral intervention, they are often worth a shot.

One popular alternative treatment is a gluten-free/casein-free diet, known as the GFCF diet, where all gluten (a protein found in the seeds of several grains such as barley, rye and wheat) and casein (a protein found in dairy products) is eliminated. But recent evidence from the most controlled diet research in autism to date suggests that the GFCF diet doesn’t actually help. The University of Rochester study found that, for the 14 children monitored, a GFCF diet didn’t result in a change in sleep habits, bowel habits, activity or core symptoms of autism.

Leonard Rappaport, MD, MS, chief of Children’s Division of Developmental Medicine, says he’s been eagerly anticipating the results of this study. Even though he didn’t believe that the GFCF diet worked, he was still saddened by the study’s conclusion. “I was hoping I was wrong,” he says.

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A better genetic test for autism

Very high-resolution microarrays such as this one, capable of spotting very small missing or extra pieces of DNA, have only become available within the past few years. Image courtesy of Agilent Technologies.
Very high-resolution microarrays such as this one, capable of spotting very small missing or extra pieces of DNA, have only become available within the past few years. Image courtesy of Agilent Technologies.

The cause of autism spectrum disorders (ASDs), the fastest growing developmental disability in the United States, is still a big mystery. While there’s clearly a genetic component, only 15 percent of people with autism have a known genetic cause. But researchers believe that a much larger percentage of autism can be chalked up to genetics. Now, Children’s Hospital Boston and Autism Consortium researchers have shown that a new genetic test, which samples the whole genome, may work three times better than standard tests.

Families expecting a child who have a family member with an ASD sometimes seek genetic testing to determine whether their baby is at risk.  In a child who’s already affected, genetic testing can explain why the child has autism and let the parents know how likely it is that other children in the family could inherit the genetic risk for autism.

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