My Mission at IMFAR: To Learn and Connect with Autism Research Leaders

By Kadi Luchsinger

Kadi Luchsinger, selected by Autism Science Foundation as a 2012 IMFAR Travel Grantee, is a parent an 11 year old son with Dup15q Syndrome.

I was so pleased to have the opportunity to attend the International Meeting for Autism Research (IMFAR). I went with a mission: to meet as many people as I could and learn from them, but also to share my knowledge of Dup15q Syndrome. I’m pleased to say I accomplished my mission.

I spent a fair amount of my time at IMFAR reviewing the poster presentations. It was wonderful to see the young researchers’ excitement and to discuss their research. I wanted to know how they developed their hypothesis, how they were funded and what obstacles they encountered. It was enlightening for me to talk to those in the trenches and to gain a better understanding of the research world. As the Executive Director of Dup15q Alliance, gaining this understanding was important because our organization is moving in the direction of funding research. Speaking with some of the top experts in the field who are working on Dup15q related projects was also a priority to me.

As a science junkie, I enjoyed the keynote address by Dr. Feldman, entitled Bio-Behavioral Synchrony and the Development of Social Reciprocity. The details of her work and the videos were fascinating. She provided a great overview of the importance of relationships to children with autism, explaining it on a biochemical level. There were so many outstanding sessions, at times I felt information overload!

My favorite session was called Communicating Autism Science. The presenters focused on media training, working with the press and communicating with families. I learned about the importance of being prepared ahead of time for the press by developing three key points and practicing these points. This was a great session for me to attend as our organization is a volunteer-run parent organization and we do not have a staff to handle media relations.

In addition to research findings, I learned more about other organizations and the resources they offer in order to share resources with our members. Though I learned so much about the latest autism research, the best thing about IMFAR was meeting the leaders in the field of autism research. I made wonderful connections and learned so much from other attendees.

Comments on ‘The Effects of Birth Order and Birth Interval on the Phenotypic Expression of Autism Spectrum Disorder’

By Matt Carey

A 2011 study in Pediatrics suggested that autism risk might be higher for siblings born within a few years of an older sibling, with the risk falling as the spacing between pregnancies increased (Closely spaced pregnancies are associated with increased odds of autism in California sibling births). This suggests prenatal environment would be involved in such a risk factor. In a study published on November 30, 2012 in PLoS One, researchers look at the characteristics of autistics born after a first sibling with autism. They look at measures of intelligence (both verbal and nonverbal), repetitive behaviors and social response. In The effects of birth order and birth interval on the phenotypic expression of autism spectrum disorder, researchers found that younger autistic siblings scored lower on these scales than their older autistic siblings. In other words, the challenges associated with autism tend to be higher for autistic younger siblings.

While the sample size for families with three autistic siblings was small, the trend seems to continue with a third sibling.

Here are results for the Ravens Colored Progressive Matrices, a test of nonverbal intelligence:

The fraction of individuals who the researchers deemed “untestable” increased for younger siblings. Where about 20% of first autistic siblings were “untestable”, this increased to about 40% for second and third autistic siblings.

Measures of motor skills (Vineland) were mostly the same for older and younger autistic siblings. Social measures (Social Responsiveness Scale) differed, but only when the age difference was under 2 years.

The authors give some discussion to what factors might be involved in these findings. While they acknowledge that social factors cannot be ruled out, this study, and the pediatrics paper before it, point to the prenatal environment as a possible avenue for environmental risk factor research.

Papers in PLoS are free to the public and this one can be found at The Effects of Birth Order and Birth Interval on the Phenotypic Expression of Autism Spectrum Disorder.

A rise in the prevalence of diagnosed cases of autism spectrum disorder (ASD) has been reported in several studies in recent years. While this rise in ASD prevalence is at least partially related to increased awareness and broadened diagnostic criteria, the role of environmental factors cannot be ruled out, especially considering that the cause of most cases of ASD remains unknown. The study of families with multiple affected children can provide clues about ASD etiology. While the majority of research on ASD multiplex families has focused on identifying genetic anomalies that may underlie the disorder, the study of symptom severity across ASD birth order may provide evidence for environmental factors in ASD. We compared social and cognitive measures of behavior between over 300 first and second affected siblings within multiplex autism families obtained from the Autism Genetic Resource Exchange dataset. Measures included nonverbal IQ assessed with the Ravens Colored Progressive Matrices, verbal IQ assessed with the Peabody Picture Vocabulary Test, and autism severity assessed with the Social Responsiveness Scale (SRS), an instrument established as a quantitative measure of autism. The results indicated that females were more severely impacted by ASD than males, especially first affected siblings. When first and second affected siblings were compared, significant declines in nonverbal and verbal IQ scores were observed. In addition, SRS results demonstrated a significant increase in autism severity between first and second affected siblings consistent with an overall decline in function as indicated by the IQ data. These results remained significant after controlling for the age and sex of the siblings. Surprisingly, the SRS scores were found to only be significant when the age difference between siblings was less than 2 years. These results suggest that some cases of ASD are influenced by a dosage effect involving unknown epigenetic, environmental, and/or immunological factors.

There is No Such Thing as a Stupid Question at IMFAR

By Marjorie Madfis

Marjorie Madfis, selected by Autism Science Foundation as a 2012 IMFAR Travel Grantee, is a parent. Additional posts by Marjorie from IMFAR can be found at her blog.

I am the mother of a 16 year old girl who was diagnosed with PDD-NOS, an Autism Spectrum Disorder, when she was two and a half. Before she was born, I never knew anyone with autism. By the time my daughter was 12 months old, I had a suspicion. By the time she was 18 months old, I knew something was out of the ordinary, though my pediatrician did not. I sat down in a friend’s office and cried. For several years, I thought, “Oh, one more speech therapy session and she’ll be all better.” Since then, I’ve undergone a continual process of learning. I found that being a mother of a child with autism is an all-consuming job and life, yet I have to juggle full-time employment with parenting.

When I started fundraising for National Alliance for Autism Research (NAAR) in 2001, I thought that within a few years, we would have identified a cause and a cure. Eleven years later, as I attended various sessions at IMFAR, it seemed to me that identifying the cause or causes — let alone a “cure” — is still at least a few years away.  However, I was reminded that scientists have undertaken a vast amount of research, which has led to greater understanding of the disorder and its attributes.

At IMFAR, I attended an interest group session about autism in females and learned that females make up only about 20-25% of children diagnosed with ASD. This session left me with many questions about why fewer females are diagnosed. Is it because they are not identified until they are older? Are females better able to compensate?

I also attended a session about cognition and behavior across the lifespan. I understood roughly 33% of what was said. The researchers reported on auditory and visual processing, multisensory processing, motor impairments, posture, balance and the implications of each for socialization. This session helped me understand that there is a correlation between the sensory system and social skills.

It was taxing to comprehend the data and findings from the researchers’ sessions. Parents are not the primary audience at IMFAR. In fact, I would guess we made up less than 5% of the audience. However, several researchers approached me during the cocktail reception to tell me they appreciated my questions during the Q&A sessions. I told them I wanted to make sure I got the most out of it. My dad always said, “There is no such thing as a stupid question; if you don’t know, ask.”

A Great Opportunity To Be Heard

by Jason Ross

Jason Ross is an Autistic adult working for the Autism Science Foundation. He has appeared on PBS’ “This Emotional Life” with Ami Klin. Jason blogs about neurodiversity, autistic rights, fiction, poetry, and artwork at www.drivemomcrazy.com.

As an adult with autism, I am encouraging Autistic people to step up and share their voices as we continue this journey to build a better community of inclusion. Part of building that community is developing and improving services for adults with autism, which is the ultimate goal of ASF and UJA’s Adult with ASD survey. Hopefully this survey will bring us closer to autism acceptance.

I decided to join this initiative and help Autism Science Foundation with this research project because many of my Autistic friends that I have spoken with either lack services or have none at all. Autistic adults need improved services to lead easier and more fulfilled lives.

We need improved services because:

1. Services can build our strengths- we can use our strengths to build our lives!
2. Services can help us get jobs- Autistics need jobs too. Better services will better prepare us for employment in the future!
3. Services can help us communicate- we need improved services in order to communicate our thoughts and feelings especially since some people think we don’t have feelings or thoughts of our own!
4. Services can help us live inclusively in society- although social skills classes are important, most classes don’t include everything we need to know.

Autistic people face many barriers in society. Please complete the survey to help lift them. You may be eligible for the survey if you are an adult with autism or a parent or caregiver of an adult with autism. If you aren’t eligible, recommend this survey to someone who can take it.  A barrier we have always faced is not being included in helping with research that affects us. The survey being administered now will help researchers understand what works best for us and what does not. Help us help researchers do the right thing. Be heard.

Here is the link to the survey:
http://orca.kennedykrieger.org/index.php?sid=86954&newtest=Y&lang=en

Please email me at jross@autismsciencefoundation.org if you have any questions.