Living with Autism

 

Learn more about the role of siblings through this family’s story. Alexis Wineman is the first woman with autism spectrum disorder (ASD) to participate in the Miss America competition. Alexis was in middle school when officially diagnosed with PDD-NOS (Pervasive Developmental Disorder- Not Otherwise Specified), but felt "different" from an early age. As she got older, she struggled with some of the challenges that come with having ASD, such as a speech impediment, communication difficulties, and being sensitive to loud sounds, and other sensory-related issues. Alexis also had to deal with bullying that occurred because of her differences. Fortunately, her family has always been a source of strength and inspiration for her. We interviewed Alexis, her mother Kimberley, her older brother Nicholas, and her older sister Danielle, and her twin Amanda to hear more about the unique role that siblings play in families living with ASD. "My advice for other individuals with autism would be to have patience for your siblings just like they have patience for you." Alexis' Perspective Prior to being diagnosed with autism, neither I nor my family had an explanation for my meltdowns and other issues. After the diagnosis, it was incredible how my siblings reacted. They were superheroes. They took me everywhere and pushed me into activities. They helped me with homework. It was just amazing how they sprang into action after years of not knowing what was going on. My advice for other individuals with autism would be to have patience for your siblings just like they have patience for you. It's good to try and figure out what's going on from their perspective rather than focusing on yourself. Kimberley's Perspective Once Alexis was diagnosed and we knew what we are dealing with, her siblings took control. They shoved her into things and got her involved. They wouldn't let her use autism as a crutch or excuse for not being involved. Her brother got her into cross-country and her sisters got her into cheerleading. All three siblings got her into speech and drama. Had she not been involved in those activities, she wouldn't have been able to accomplish all that she has accomplished. Alexis was able to find activities where she was accepted, and she wouldn't have found those on her own. Her siblings also became very protective and helped with the teasing and bullying. Siblings can be such a positive force for combatting bullying. They can educate the peer group. That's something a sibling can be much more effective at than a parent. My advice for someone who has a sibling with autism would be to engage them and help them find their niche. Nicholas' Perspective Before Alexis was diagnosed, we just didn't understand why she was acting out. It was very confusing and frustrating. After the diagnosis, things made a lot more sense. Being able to help and take preventive measures, it was a whole new world. It has made us all better people. We learned patience. It was a common occurrence that we would get into fights, but being able to make up and process what happened was different for Alexis compared to the rest of us. With Alexis, when the fight was over, the board was erased clean. In other words, five minutes later everything was completely back to normal. It seemed like she was doing it to annoy you, but she wasn't. Not understanding why it was so easy for her to get over a fight was hard. Going through experiences like this makes you have to be more understanding. You learn that people handle things differently. My advice for someone who has a sibling with autism would be to practice empathy. I consider myself to be empathetic and living with Alexis was a huge part of that. Danielle's Perspective My brother and I had to do some growing up fast. You have to take on a parenting role when you're trying to understand what's going on. From the time she was diagnosed, it opened our eyes to understanding people with disabilities. We have openness to people with differences and are able to maintain that empathy. We've grown up having to deal with all levels of ups and downs. I played a second mom when Alexis was younger. If she didn't listen to mom, I'd go in and say the same thing. Sometimes it's easier to have someone on her level explain things or give her the opportunity to vent. My advice for someone who has a sibling with autism is that you have to become a solid shadow for your sibling. They might not fully understand how much you are putting in to be there for them. At the end of the day, each success, no matter how small, is part of you. You deserve to celebrate too. When you're diagnosed with autism, it's a diagnosis for the entire family and not just that person. It's really a test of family. Amanda's Perspective Having a twin is how we figured out there was a problem. There was a direct comparison to a neuro-typical child, and they could see that Alexis wasn't meeting milestones the way I was. When I was little, whenever I came home from school, I tried to teach her to do things that I had learned so that she could keep up with me. We are now roommates in college. But I still have to wake her up and help keep her on a schedule. It's been interesting to see how people in college react to our interactions. They don't understand that I'm acting in a couple of different roles—sometimes as a sibling and sometimes more as a mother. My advice for someone with a sibling with autism is to be patient. As stressful as the role you have to play is, it's also rewarding. If you try to be patient, you get to share in success. Alexis' America's Choice Award during the Miss America competition ranks as one of the highlights of my life because I got to share in that success. Never give up on trying to help.

Chemical derived from broccoli sprouts shows promise in treating autism

 

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Broccoli sprouts are shown.

Results of a small clinical trial suggest that a chemical derived from broccoli sprouts -- and best known for claims that it can help prevent certain cancers -- may ease classic behavioral symptoms in those with autism spectrum disorders (ASDs).

The study, a joint effort by scientists at MassGeneral Hospital for Children and the Johns Hopkins University School of Medicine, involved 40 teenage boys and young men, ages 13 to 27, with moderate to severe autism.

In a report published online in the journal Proceedings of the National Academy of Sciences during the week of Oct. 13, the researchers say that many of those who received a daily dose of the chemical sulforaphane experienced substantial improvements in their social interaction and verbal communication, along with decreases in repetitive, ritualistic behaviors, compared to those who received a placebo.

"We believe that this may be preliminary evidence for the first treatment for autism that improves symptoms by apparently correcting some of the underlying cellular problems," says Paul Talalay, M.D., professor of pharmacology and molecular sciences, who has researched these vegetable compounds for the past 25 years.

"We are far from being able to declare a victory over autism, but this gives us important insights into what might help," says co-investigator Andrew Zimmerman, M.D., now a professor of pediatric neurology at UMass Memorial Medical Center.

ASD experts estimate that the group of disorders affects 1 to 2 percent of the world's population, with a much higher incidence in boys than girls. Its behavioral symptoms, such as poor social interaction and verbal communication, are well known and were first described 70 years ago by Leo Kanner, M.D., the founder of pediatric psychiatry at The Johns Hopkins University.

Unfortunately, its root causes remain elusive, though progress has been made, Talalay says, in describing some of the biochemical and molecular abnormalities that tend to accompany ASD.

Many of these are related to the efficiency of energy generation in cells. He says that studies show that the cells of those with ASD often have high levels of oxidative stress, the buildup of harmful, unintended byproducts from the cell's use of oxygen that can cause inflammation, damage DNA, and lead to cancer and other chronic diseases.

In 1992, Talalay's research group discovered that sulforaphane has some ability to bolster the body's natural defenses against oxidative stress, inflammation and DNA damage. In addition, the chemical later turned out to improve the body's heat-shock response -- a cascade of events used to protect cells from the stress caused by high temperatures, including those experienced when people have fever.

Intriguingly, he says, about one-half of parents report that their children's autistic behavior improves noticeably when they have a fever, then reverts back when the fever is gone. In 2007, Zimmerman, a principal collaborator in the current study, tested this anecdotal trend clinically and found it to be true, though a mechanism for the fever effect was not identified.

Because fevers, like sulforaphane, initiate the body's heat-shock response, Zimmerman and Talalay wondered if sulforaphane could cause the same temporary improvement in autism that fevers do. The current study was designed to find out.

Before the start of the trial, the patients' caregivers and physicians filled out three standard behavioral assessments: the Aberrant Behavior Checklist (ABC), the Social Responsiveness Scale (SRS) and the Clinical Global Impressions-Improvement scale (CGI-I). The assessments measure sensory sensitivities, ability to relate to others, verbal communication skills, social interactions and other behaviors related to autism.

Twenty-six of the subjects were randomly selected to receive, based on their weight, 9 to 27 milligrams of sulforaphane daily, and 14 received placebos. Behavioral assessments were again completed at four, 10 and 18 weeks while treatment continued. A final assessment was completed for most of the participants four weeks after the treatment had stopped.

Most of those who responded to sulforaphane showed significant improvements by the first measurement at four weeks and continued to improve during the rest of the treatment. After 18 weeks of treatment, the average ABC and SRS scores of those who received sulforaphane had decreased 34 and 17 percent, respectively, with improvements in bouts of irritability, lethargy, repetitive movements, hyperactivity, awareness, communication, motivation and mannerisms.

After 18 weeks of treatment, according to the CGI-I scale, 46, 54 and 42 percent of sulforaphane recipients experienced noticeable improvements in social interaction, aberrant behaviors and verbal communication, respectively.

Talalay notes that the scores of those who took sulforaphane trended back toward their original values after they stopped taking the chemical, just like what happens to those who experience improvements during a fever. "It seems like sulforaphane is temporarily helping cells to cope with their handicaps," he says.

Zimmerman adds that before they learned which subjects got the sulforaphane or placebo, the impressions of the clinical team -- including parents -- were that 13 of the participants noticeably improved. For example, some treated subjects looked them in the eye and shook their hands, which they had not done before. They found out later that all 13 had been taking sulforaphane, which is half of the treatment group.

Talalay cautions that the levels of sulforaphane precursors present in different varieties of broccoli are highly variable. Furthermore, the capacity of individuals to convert these precursors to active sulforaphane also varies greatly. It would be very difficult to achieve the levels of sulforaphane used in this study by eating large amounts of broccoli or other cruciferous vegetables.

 

Story Source:

The above story is based on materials provided by Johns Hopkins Medicine. Note: Materials may be edited for content and length.

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Journal Reference:

1. Kanwaljit Singh, Susan L. Connors, Eric A. Macklin, Kirby D. Smith, Jed W. Fahey, Paul Talalay, and Andrew W. Zimmerman. Sulforaphane treatment of autism spectrum disorder (ASD). PNAS, October 13, 2014 DOI: 10.1073/pnas.1416940111

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Johns Hopkins Medicine. "Chemical derived from broccoli sprouts shows promise in treating autism." ScienceDaily. ScienceDaily, 13 October 2014. <www.sciencedaily.com/releases/2014/10/141013152608.htm>.

 

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Genetic link to autism found, known as CHD8 mutation

 

July 3, 2014

University of Washington - Health Sciences/UW News, Community Relations & Marketing

In a collaboration involving 13 institutions around the world, researchers have broken new ground in understanding what causes autism. This is the first time researchers have shown a definitive cause of autism to a genetic mutation. Previously identified genetic events like Fragile X, which account for a greater number of autism cases, are associated with other impairments, such as intellectual disability, more than autism.

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To confirm the findings, researchers worked with scientists at Duke University who do zebra fish modeling.

In a collaboration involving 13 institutions around the world, researchers have broken new ground in understanding what causes autism. The results are being published in Cell magazine July 3, 2014: "Disruptive CHD8 Mutations Define a Subtype of Autism in Early Development."

"We finally got a clear cut case of an autism specific gene," said Raphael Bernier, the lead author, and UW associate professor in the Department of Psychiatry and Behavioral Sciences and the clinical director of the Autism Center at Seattle Children's.

Bernier said people with a mutation in the CHD8 gene have a very "strong likelihood" that they will have autism marked by gastrointestinal disorders, a larger head and wide set eyes.

In their study of 6,176 children with autism spectrum disorder, researchers found 15 had a CHD8 mutation and all these cases had similar characteristics in appearance and issues with sleep disturbance and gastrointestinal problems.

Bernier and his team interviewed all 15 cases with CHD8 mutations.

To confirm the findings, researchers worked with scientists at Duke University who do zebra fish modeling. The researchers disrupted the CHD8 gene in the fish and the fish developed large heads and wide set eyes. They then fed the fish fluorescent pellets and found that the fish had problems discarding food waste and were constipated.

Bernier said this is the first time researchers have shown a definitive cause of autism to a genetic mutation. Previously identified genetic events like Fragile X, which account for a greater number of autism cases, are associated with other impairments, such as intellectual disability, more than autism. Although less than half a percent of all kids will have this kind of autism related to the CHD8 mutation, Bernier said there are lots of implications from this study.

"This will be a game changer in the way scientists are researching autism," he said.

The results could lead the way to a "genetics-first approach" that could uncover hundreds more genetic mutations and lead to genetic testing. Genetic testing could be offered to families as a way of guiding them on what to expect and how to care for their child. Currently, autism is diagnosed based on behavior, said Bernier.

In the short term, Bernier said, clinicians can pay attention to the small population with this CHD8 mutation and provide targeted treatment.

Researchers say autism has currently been linked to different types of genetic events. The most commonly researched genetic events associated with autism are chromosomal re-arrangements, called "copy number variations," in which a chunk of chromosome is copied or deleted. But no one rearrangement affects more than 1 percent of all autism cases. While these copy number events are associated with autism, they do not have a definitive link, or as they say among researchers, a "strong penetrance."

Then there are genetic mutations in which a gene has been disrupted and is not creating the kind of protein it should create. The CHD8 gene mutation is the first gene mutation to show a very strong penetrance linked to a certain subtype of autism.

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Story Source:

The above story is based on materials provided by University of Washington - Health Sciences/UW News, Community Relations & Marketing. Note: Materials may be edited for content and length.

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Journal Reference:

1. Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A. Stessman, Bradley P. Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T. Vulto-van Silfhout, Janneke H. Schuurs-Hoeijmakers, Marco Fichera, Paolo Bosco, Serafino Buono, Antonino Alberti, Pinella Failla, Hilde Peeters, Jean Steyaert, Lisenka E.L.M. Vissers, Ludmila Francescatto, Heather C. Mefford, Jill A. Rosenfeld, Trygve Bakken, Brian J. O’Roak, Matthew Pawlus, Randall Moon, Jay Shendure, David G. Amaral, Ed Lein, Julia Rankin, Corrado Romano, Bert B.A. de Vries, Nicholas Katsanis, Evan E. Eichler. Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development. Cell, 2014; DOI: 10.1016/j.cell.2014.06.017