Friday, September 20th, 2013
A genetic disorder that can lead to developmental delays, anxiety, and social awkwardness is misdiagnosed as an autism spectrum disorder (ASD) as much as 50 percent of the time, according to a new study by researchers at the University of California Davis. The mistake can lead to inappropriate treatment for the children, and may even worsen the symptoms of their genetic condition. More from Time.com:
About one in 2000 people are diagnosed with 22q11.2 deletion syndrome, which can lead to developmental delays, social awkwardness and anxiety, among other symptoms. Because those symptoms overlap with some of the hallmark signs of autism, researchers say that anywhere from 20% to 50% of children with 22q, as the condition is called, are misdiagnosed with autism.
That can have serious implications for these patients, since behavior-based treatments designed to alleviate the social deficits of autism may actually exacerbate anxiety among those with the 22q genetic disorder. If left untreated, children with 22q can be at higher risk of developing other mental health disorders like schizophrenia later in life.
To tease apart the differences between children with 22q and those with autism, the researchers, based at the University of California Davis MIND Institute, recruited a small group of 29 kids from a website the study called Cognitive Analysis and Brain Imaging Laboratory (CABIL). The scientists noticed that parents of children with the genetic disorder often commented that while their kids were diagnosed with autism, they seemed different from other children with the developmental disorder. “It’s quite clear that children with the [22q] disorder do have social impairments,” said study author Tony J. Simon, a professor of psychiatry and behavioral sciences at the MIND Institute in a statement. “But it did seem to us that they did not have a classic case of autism spectrum disorder. They often have very high levels of social motivation. They get a lot of pleasure from social interaction, and they’re quite socially skilled.”
So the team gave the children two of the gold standard tests for diagnosing autism — the Autism Diagnostic Observation Schedule (ADOS) and the Social Communication Questionnaire (SCQ) — to see if they indeed showed signs of autism.
Only five of the children had elevated scores on the ADOS test, and four out of the five had anxiety. None of the 22q children had scores high enough in both tests to classify them as having autism.
Image: Child with pediatrician, via Shutterstock
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Tuesday, June 11th, 2013
Omegaven, a medication developed at Boston Children’s Hospital to save the lives of infants who cannot absorb nutrition, is stuck in the FDA approval process, apparently causing delays that leave parents and doctors alike frustrated and worried. The drug is a crucial part of treatment for Microvillus Inclusion Disease, a rare genetic condition in which a child cannot absorb fluid or nutrients except through a direct injection of a treatment called total parenteral nutrition, or TPN. TPN, however, can cause liver damage over time; Omegaven counters that damaging effect. More from NBC News:
The potentially life-saving medication Omegaven, an intravenous mixture made with fish oil, reduces the fatal fat accumulation in children’s livers caused by TPN. Fish oil contains anti-inflammatory omega-3 fatty acids, which have been shown to prevent fat buildup.
It is unclear when or whether Omegaven will be approved. The normal FDA process for approval is to test medications in large trials that randomly assign patients to receive either the new drug or a placebo. In fatal illnesses, that can present doctors with a tough ethical quandary: Do you do the science right and potentially lose some patients or just keep treating patients in research studies.
Not daunted by the lack of FDA approval, Sam [O’Connor's] family signed him up for a Boston Children’s Hospital research study looking at the new medication’s efficacy.
It didn’t take long to see results.
“For me, it was . . . the personality change,” Debra said. “To have him start responding to me and playing, it’s just like he’s actually a person again. You know, it’s almost like his life started at that point because before it was just enduring.”
Now 5, Sam is one of the lucky ones because he was able to get the drug he needed. Other children aren’t so lucky, says Puder, who developed the Omegaven treatment after watching up to four children die from liver failure each year at his hospital alone.
Without FDA approval, Omegaven is available only to those who can come to Boston to take the drug in a research protocol, or at another hospital with special dispensation from the FDA, a provision called “compassionate use.”
Image: Doctor holding infant, via Shutterstock
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Wednesday, September 12th, 2012
A rare but serious genetic disorder called severe combined immune deficiency syndrome (SCID) has been successfully treated with gene therapy in a brother and sister who are both afflicted with the disease, MSNBC.com is reporting. The disease is most closely associated with 13-year-old David Vetter, who died in the 1970s after spending years in a plastic isolation “bubble.” From MSNBC.com:
Abby and Colton [Ainslie] both had a type called SCID-ADA, which account for about 15 percent of SCID cases. Their bodies produce a faulty version of an enzyme called adenosine deaminase or ADA. Without it, immune cells die. Most patients die by the time they are about 2 from some infection, because their immune systems just can’t fight off germs….
Gene therapy sounds simple. If a patient has a disease caused by a single mutated gene, just replace the bad gene and everything should be all right. But it’s not so simple. For one, it’s hard to get a new gene into the body, to get cells to take it up and use it. Scientists mostly use viruses to get the job done, because viruses infect by invading cells and injecting their own genetic material.
But the viruses can cause trouble, even seemingly harmless ones. In 1999, 18-year-old Jesse Gelsinger died during a gene therapy clinical trial when his immune system overreacted to the virus being used to carry the new gene into his body. And when French and British doctors first tried gene therapy for SCID a few years later, they cured a few infant boys, but five have developed leukemia as a result –although the leukemia was relatively easy to cure.
And the body doesn’t always hang on to the new gene, or sometimes the gene gets inserted into a place where it doesn’t work. And in the cases of kids with SCID-ADA, it wasn’t clear why, but the gene therapy did not seem to be helping. Kohn’s team, led by Dr. Fabio Candotti at the National Institutes of Health, was tweaking the approach. European researchers had treated 10 children with SCID-ADA but U.S. researchers had not succeeded.
Image: DNA lab, via Shutterstock
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Wednesday, May 2nd, 2012
Avery Canahuati, the 5-month-old girl who captured the nation’s heart with her family’s embrace of life despite a devastating diagnosis, died Monday of complications from spinal muscular atrophy (SMA). The disease is the number one genetic killer of children under age 2 in the U.S., with 1 in 40 Americans carrying the gene that can lead to the disease.
From ABC News:
The little girl’s lung collapsed and she went into cardiac arrest Monday afternoon, her father, Michael Canahauati wrote in an update on her blog, Avery’s Bucket List. Babies with severe types of SMA have difficulty regulating their breath and are especially vulnerable to respiratory complications.
“Avery’s passing this quickly came as a complete shock to all of us, as she had just been given a thumbs up at her last doctor’s appointment only three days ago,” Mike Canahauati wrote in a blog post today. “While we were aware of the severity of her diagnosis, we never lost hope for Avery.”
Her father wrote that the disease never took away Avery’s smile and he shared a photo of Avery smiling before she was rushed to the hospital Monday.
On April 6, Avery was diagnosed with Type 1 SMA, or the most severe type of spinal muscular atrophy, an incurable, genetic disorder that attacks spinal neurons and progressively debilitates muscle function. Having Type 1, doctors gave Avery 18 months to live.
To cherish every moment with their daughter, the Canahuatis, from Bellaire, Tex., created “Avery’s Bucket List,” a sweet and joyful blog written from Avery’s perspective, where they chronicle her world and track their family adventures, checking things off from the bucket list as they go.
Recently, Avery threw out the first pitch at a minor league baseball game in Houston, got a tattoo, a driver’s license and had her first kiss.
The Canahauti family says they will help raise $365,000 to find a cure for SMA.
Image: Avery Canahauti, via http://averycan.blogspot.com/
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Thursday, April 12th, 2012
Could a drug reverse some of the health and behavioral effects of autism spectrum disorders (ASD)? New research involving mice with a genetic condition that leads to autism-like behaviors is suggesting it might be possible, The Boston Globe reports:
A study out Wednesday in the journal Neuron found that medication could correct the health and behavior problems of mice with a genetic condition known to lead to autism in people. The drug, which acts on the synapses, or gaps, between brain cells, reversed a vast range of symptoms often associated with autism — including lack of sociability, physical awkwardness, and hyperactivity.
Most surprising, the drug worked on adolescent mice, showing that these symptoms are reversible even after the critical period of early brain development.
“I was thrilled,” said Mark Bear, the MIT neuroscientist who led the research.
Bear helped found a company, Seaside Therapeutics, which is currently studying a similar drug in people with Fragile X, a genetic condition that often leads to autism. The mice had the same genetic change as the people in the study. Roche and Novartis are also studying similar medications, with effectiveness trials due to be completed in about a year.
“I can’t tell you how exciting it is right now, and how anxiously I am awaiting the impact of these clinical trials,” Bear said. “It seems that in Fragile X and maybe other causes of autism there is essentially a metabolic problem.”
The problem in Fragile X, Bear said, seems to be that there are too many proteins being produced in the junctures between brain cells. Flooded with proteins from one brain cell, the receptors at another don’t know which protein to accept, and, essentially, a traffic jam results.
Bear said he was amazed, several years ago, when he realized that a tie-up between brain cells could cause the full range of symptoms found in autism.
“It truly is extraordinary that this receptor seems to give rise to so many aspects of the disease,” he said.
Image: Prescription pad, via Shutterstock.
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