Common Genes Linked to Autism Risk

According to recent research, the genetic risk for autism is primarily associated with versions of genes commonly found in the population, as opposed to rare variants. These rare variants, or spontaneous glitches in DNA, only accounted for 2.6 percent of the genetic risk for autism, while common gene variants accounted to 52 percent of the risk. This recent study, published in the journal Nature Genetics, was funded by the National Institutes of Health. The study focused on data from Sweden’s universal health registry, using medical records from 3,000 people with autism compared with an age-matched control group.

Dr. Joseph Buxbaum of the Icahn School of Medicine at Mount Sinai in NYC, states, “Genetic variation likely accounts for roughly 60 percent of the liability for autism, with common variants comprising the bulk of its genetic architecture.” He continues, “Although each exerts just a tiny effect individually, these common variations in the genetic code add up to substantial impact, taken together”.

The research provides a better understanding of the genetic factors that drive autism. Dr. Buxbaum states, “Within a given family, the mutations could be a critical determinant that leads to the manifestation of ASD in a particular family member.” He continues, “The family may have common variation that puts it at risk, but if there is also a spontaneous mutation on top of that, it could push an individual over the edge.” Autism geneticists can better detect common and rare genetic variations associated with risk.

Studying the genetic code that is shared by most people has been challenging, as limitations of sample size and composition make it difficult to estimate the relative influence of common and rare spontaneous variation. As a result, researchers are focusing on new statistical methods to allow them to sort out the heritability of the disorder with more reliability. This recent study allowed investigators to compare quite a large sample of individuals on the spectrum with matched controls. Dr. Thomas Lehner, chief of NIMH’s Genomics Research Branch, states, “This is a different kind of analysis than employed in previous studies. Data from genome-wide association studies was used to identify a genetic model instead of focusing just on pinpointing genetic risk factors. The researchers were able to pick from all of the cases of illness within a population-based registry.”

With researchers getting a better grasp on the genetic framework, they are gaining a better understanding of which duplications of genetic material and spontaneous mutations are correlated to autism development. The researchers stated, “Even though such rare spontaneous mutations accounted for only a small fraction of autism risk, the potentially large effects of these glitches makes them important clues to understanding the molecular underpinnings of the disorder.”

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A Mother’s Immune System May Play a Role in Autism Development in their Child

According to a recent study, a mother’s immune system may be correlated to the development of autism disorders in their children. Some mothers of children with autism appear to have immune system deficiencies, as well as antibodies in their blood, which attack the brain proteins of their fetuses.

Autism disorders have been studied for many years, and there is still no clear answer of how they may develop. However, Dr. Andrew Adesman, Chief of Developmental and Behavioral Pediatrics at Cohen Children’s Medical Center of New York, states, “This latest research takes us one step closer to clearing away some of the befuddlement and suggests why some children may develop autism”. Genetics play a major role in autism development, and this study makes it more evident that autism may begin to develop while the child is still in their mother’s womb. Dr. Adesman adds, “If maternal antibodies are indeed responsible for causing some cases of autism, then there is the possibility that a blood test could be done prenatally or even prior to getting pregnant to assess one’s risk of having a child with autism.”

As a result, this research may lead to potential advances in drug development, as this serves as a target for areas that need to be treated. Researchers have named this form of autism Maternal Autoantibody-Related (MAR) autism. Researchers state that upwards of a quarter of all cases of autism disorders may be of the MAR kind.

The study utilized blood samples of nearly 250 mothers that have children with autism, as well as the blood samples of 150 mothers of children without autism. The mothers of children with ASD were more than 21 times as likely to have the MAR antibodies in their systems that reacted with antigens, or fetal brain proteins. MAR antibodies were not found in the blood of mothers of children without autism.

In addition to this study, previous research has found that women with certain antibodies in their bloodstreams had an increased risk of having a child with autism. These children typically exhibited more severe language delays and irritability as opposed to the behaviors of children with autism whose mothers did not have the antibodies in their blood. Judy Van de Water, immunologist and professor of internal medicine, states, “Now we will be able to better determine the role of each protein in brain development. We hope that, one day, we can tell a mother more precisely what her antibody profile means for her child, then target interventions more effectively.”

By being able to identify the proteins associated with MAR autism, new therapies can potentially be developed to help treat those with the disorder. Furthermore, doctors may administer “antibody blockers” to the mother during pregnancy to aid in the development of the fetal brain. This research also leads to the possible development of a test for MAR autism, which would be available to mothers of young children who are showing signs of developmental delay. Results of the test could allow the child to receive early intervention and the best individualized care.

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The Influence of Technology on Non-Verbal Autistic Children

A recent study conducted by UCLA has discovered that the communication skills of children with Autism Spectrum Disorders (ASD) improved significantly through individualized interventions that incorporated the use of technology, such as iPads or other tablets. This study, which took place over the course of three years, examined the different ways to improve the communication skills of non-verbal children, or kids with minimal verbal skills.

UCLA worked in conjunction with Vanderbilt University and the Kennedy Krieger Institute, and found that the language and communication skills of many children on the spectrum improved significantly with the use of tailored therapy sessions that incorporated computer tablets.

The study initially incorporated over 60 children on the autism spectrum, between the ages of 5 and 8. Each of these children received individualized communication therapy over the course of six months, which focused on social communication gestures, spoken language, and skills used in playing or other types of social interaction. Half of the children in the study were randomly chosen to use computer tablets during their sessions, which incorporated speech-generating applications, using audio clips of words and corresponding visuals. A therapist would instruct the child to tap a picture of an object, which would play an audio clip of the corresponding word, allowing the child to learn more effectively and at their own pace.

Researchers immediately saw a difference between the children who utilized the tablets during therapy and the ones that only received communication intervention. The children who used the tablets were more likely to use language spontaneously and socially, demonstrating just how effective the technology was in their therapy sessions. UCLA Professor Connie Kasari, lead author of the study, states, “It was remarkable how well the tablet worked in providing access to the communication for these children.” She continues, “Children who received the behavioral intervention along with the tablet to support their communication attempts made much faster progress in learning to communicate, and especially in using spoken language.” Three months after the initial study, researchers conducted a follow-up visit with the children, and found that their improvement in communication lasted throughout those months.

One of the themes of the recent ICare4Autism International Autism Conference was the influence of technology in the education and therapy of individuals of all ages on the spectrum. With advances in technology taking place each day, it has become more prevalent to incorporate apps and programs in building various skills of an individual with autism. At the conference, several presentations were given that discussed the incredible influence of technology in the development of individuals of all ages with autism. Michele McKeone, Founder and CEO of Autism Expressed, led several workshops that demonstrated the effectiveness of using her digital program in helping teenagers gain the marketable skills they would need to advance in today’s world. The benefits of technology have been outstanding in many cases of individuals with ASD, as it has helped create new opportunities for those on the spectrum, as well as given many non-verbal children the ability to begin to express themselves.

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Many Women with ASD Go Undiagnosed

Autism Spectrum Disorders (ASD) have always been much more prevalent in males, with recent studies stating that five times as many boys are diagnosed with autism, in comparison to girls. Although there is a significant difference between genders in the number of individuals diagnosed, it is a common misconception that only boys can have the disorder. As a result, many women go undiagnosed with autism for years, and some even continue to do so.

Although there is no such thing as a “male” or “female” version of autism, a female profile is often characterized by certain traits. Signs of autism in women may include her being overly compassionate or gentle, having shutdowns when she is upset, or being highly uncomfortable in social situations. The difficult part in diagnosis is that men can also exhibit these traits, and women can exhibit more masculine traits, such as loud outbursts.

One of the biggest reasons why women may go undiagnosed is that they are better at masking their symptoms or signs of the disorder, such as trying to fit into social situations even if it causes them extreme discomfort. However, doctors warn that this can relate to an Autistic Crash, where autistic individuals reach a point where they cannot cope with their struggles and find it difficult to keep pretending to be someone they are not. This can lead to worsened health issues, such as the individual suffering from depression, severe anxiety, or an eating disorder. Therefore, it is even more critical that a more efficient diagnosis process is developed in order to help distinguish if a female may be on the autism spectrum.

Autism is just as difficult for women as it can be for men. Furthermore, if the woman is never diagnosed, she may never receive the care and therapy that could help her live an easier, more fulfilling life. It is common for women to go through life without understanding what may cause their anxieties or depression, and the idea of them having an autism disorder may be the furthest thing from their minds. This may also be due to the perception of autism being a masculine disorder. As a result, it is essential that something is done to help women obtain a diagnosis to avoid years of suffering and depression. Many groups are working towards a female profile for autism, which can be used as a diagnostic tool. Hopefully, this can be used to help women in the future receive the support they need to ease their anxiety and live happier lives.

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New Architecture Program Allows Teens with ASD to Build Job Skills

Students use the SketchUp software to build virtual worlds.
(photo credit: Al Hartmann, The Salt Lake Tribune)

A new program has been implemented to help autistic teens build a particular set of job skills. Ten teenagers on the autism spectrum were selected for a pilot project by NeuroVersity, a company that plans to give students with autism the training and experience they will need in order to land stable employment. In this new program, students are using design software to build job skills for a career in architecture.

The students are working with 3-D imaging software called SketchUp Make, which has been developed by Google. Many teens on the autism spectrum are particularly interested in technology, and this program allows them to utilize something they are interested in, as well as help them learn visually and spatially, with a focus on one particular subject.

NeuroVersity was founded by nursing professor Scott Wright and professor of family and consumer studies Cheryl Wright. Their new architecture project selected students that were recommended by their high schools for a two-week pilot program at the Columbus Community Center in Salt Lake City. They focused on using SketchUp, as it is often used in industries such as construction, architecture, urban planning, and video game design. In the first week of the project, teens designed their own creations: building virtual neighborhoods, raceways, as well as trucks and tanks. They even creatively designed fantasy worlds such as one that featured dragons. In addition, although there was no homework assigned to them, many of the teens continued to work in these programs once they went home each night, as well as through the weekend, showing just how invested they became in the project.

At the end of the first week, organizers of the project told the boys, “If you want to come back next week, you’ll be able to work on a real project and get paid.” Even though the amount they would be paid was kept as a surprise to them, all ten boys showed up, happy to work on a real project. Mike Plaudis of Big-D Construction, who also has a son with autism, taught the students about building design, and then asked the boys to convert 2D drawings into a three-dimensional blueprint.

Aside from building technical skills in each of these students, the program also helped build their self-confidence and their ability to express themselves. Denise Dimock, mother of 15-year old Mason, a student in the program, states, “The entire experience has been magical. It has empowered him”. By investing himself in a project he was so interested in, Mason became more confident about his work and his talents. Furthermore, he decided to present his work in front of 15 other students.

Dr. Joshua Weinstein, Founder and CEO of ICare4Autism, discussed Global Autism Workforce Initiatives at the groundbreaking ICare4Autism International ICare4Autism Conference, which took place two weeks ago in NYC. ICare4Autism’s workforce initiatives focus on promoting innovative programs that help educate and train individuals on the spectrum, easing their transition into the workplace. On the first day of the conference, Dr. Weinstein emphasized the importance of creating new opportunities for individuals with autism at this current time, as over 50,000 autistics graduate high school every year, leaving a huge need for employment opportunities that will make a difference in their lives, as well as in our communities. ICare4Autism fully supports programs such as the one created by NeuroVersity, as they have given individuals the opportunity to realize their own potential, helping them gain the skills that can set them on the path to success. Individuals with autism offer a very unique and valuable skill set, and it is important that more companies invest into these individuals and provide them a range of opportunities for a happy, fulfilling life.

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Adults with ASD Need More Support in Learning to Drive

In a recent study, researchers at Drexel University have found significant differences in the driving behaviors of autistic adults in comparison to neurotypical individuals. With the autism diagnosis rate growing each year, it is important that this study identifies whether the autism population has unmet needs that need to be fulfilled to help them drive safely. Driving is a key element of independent functioning, and it is important to identify what support is needed in order to help autistic adults have this ability.

Dr. Maria Schultheis, associate professor of psychology at Drexel, states, “When we investigate [how] a condition or neurological difference might affect driving ability, as a standard starting point we want to go to individuals and find out from their perspective what problems they are having on the road, in their real-world experience.” She continues, “That question is pivotal to shape and inform the goals of long-term research — and is especially important when we turn to look at a developmental difference like autism, where there has been too little research to establish whether widespread driving difficulties exist.”

The needs of autistic adults are often overlooked, and the few studies regarding driving have primarily focused on adolescents and new drivers, as opposed to experienced adult drivers. This new study by Drexel, published by the Journal of Autism and Developmental Disorders, used a validated survey that had been extensively used in driving research, asking adult licensed drivers with autism about their real-world driving experiences. It focused on reports of 78 drivers with Autism Spectrum Disorders (ASD), in comparison to 94 drivers without an ASD.

Dr. Brian Daly, assistant professor of psychology at Drexel, and lead author of the study, states, “We were beginning to see discussion in the research literature that aspects of autism spectrum disorders, such as neurocognitive challenges and social recognition difficulties, could make it likely that members of this population would experience significant challenges with driving.” According to the study, most adults with autism spectrum disorders reported earning their drivers’ licenses at a later age. In addition, they tend to drive much less frequently, and they put restrictions on themselves, such as avoiding highways, or only driving during the daytime. Furthermore, most of the adults studied reported having experiences with traffic violations.

The violations may be due to reduced driving exposure, a result of their restrictive behaviors, or actual difficulties and deficiencies in their driving abilities. However, the participants on the autism spectrum may have given more honest answers than their counterparts. Dr. Schultheis states, “Because the study relied on self-reported answers, we can’t rule out whether the respondents with autism were simply being more descriptive and honest about their difficulties than the control group.” Furthermore, Dr. Daly and Dr. Schultheis noted was that the difficulties adults with autism reported did not pertain to a particular area. Dr. Daly states, “It suggests that the challenges these individuals are facing are more global than specific.”

This was an essential study to help bring light to one of the barriers that adults on the autism spectrum face in their daily lives. As a result of these findings, more support needs to be given to help autistic adults as they learn the skills needed to drive, as driving provides an opportunity for them to feel independent, and yet included in a societal norm. In the next phase of research, the team is using driving simulation in Schultheis’ lab to capture aspects of actual driving performance in adults on the autism spectrum.

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Program Transitions Autistic Individuals into the Workplace

Interns of Project Search
(photo credit: nih.gov)

One of ICare4Autism’s largest priorities is helping autistic adults enter the workforce. The Global Autism Workforce Initiative focuses on creating a wider acceptance of autism in society, as well as creating diversity in the workforce. Several organizations are beginning to create programs to specifically integrate autistic adult into their workplace.

According to a recent study by the Journal of the American Academy of Child and Adolescent Psychiatry, more than half of young adults with ASD were unable to find work in the eight years after graduating high school. Project Search is an innovative program that hopes to make the transition after high school easier.

Project Search is a year-long program that uses hands-on learning in combination with a classroom-style lecture to transition developmentally disabled individuals into the workplace. Throughout the program, interns between the ages of 18 and 21 spend a minimum of six hours per day building, and then using, the necessary skills they will need when they enter a certain sector of work. The skill-building enables the individual to become comfortable with the idea of doing a certain task, and allows them to grow in particular categories. Project Search began at Cincinnati Children’s Hospital in 1996, and has since grown rapidly – it now is a part of over 200 facilities across the United States.

Dr. David Kuhn, clinical director of New York’s Presbyterian Center for Autism and the Developing Brain, hopes this program will allow the interns to grow and have the ability to thrive in various environments. He states, “The mission is to build the skills necessary for these individuals to move on beyond these doors to get competitive employment”. He continues, “Our interns go through three ten-week rotations for a total of 600 work hours per year where they are placed at different sites across our campus getting a variety of different experiences.”

Geoffrey Straught, an intern that is about to finish his duration at Project Search, likes the structure of the program and the fact that it involves opportunities for him to build multiple skills. Thanks to Project Search, Geoffrey is now employed at a district attorney’s office. Geoffrey is one of the 70% of participants from the program to go on to find work successfully.

Project Search is an excellent example of how autistic individuals can successfully find positions that fit their strengths, thanks to skill-building, following a schedule, and providing continuous support.

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Creating Employment Opportunities for Adults on the Autism Spectrum

 

Konstantin Zobrovsky and Michele Shapiro of AHRC discuss their initiatives in the autism workforce movement in NYC on July 2nd.

The ICare4Autism International Autism Conference focused on several important topics facing individuals with autism, with a major focus on the autism workforce movement. ICare4Autism’s Global Autism Workforce Initiatives were supported by several incredible presentations that discussed the need for work programs that incorporate autistic individuals, as well as presentations from representatives of businesses that are already making strides to successfully employ autistic adults.

Michele Shapiro, Project Manager for AHRC, Konstantin Zobrovsky, AHRC Employment Specialist, and Mark Grein, Executive Director of Specialisterne-USA, gave presentations on two different days of the conference to discuss a business collaboration that is currently providing opportunities for individuals on the autism spectrum. AHRC-NYC serves over 15,000 individuals with intellectual disabilities in the five boroughs, and Specialisterne strives to be an example of how individuals with ASD can provide valuable and high quality service in an employed position. In November of last year, AHRC and Specialisterne launched a cohort that would help demonstrate the strengths of individuals with ASD. Together, they are currently training and enabling employment for 50 individuals on the spectrum, and are working to establish additional opportunities.

Specialisterne and AHRC are focused on enabling more individuals with ASD to participate in working roles, while also expanding their career path options. This partnership aims to reduce the societal costs of ASD, as well as create collaborations among more employers and stakeholders. Specialisterne and AHRC follow a Dandelion Management Model, which views individuals as being unique and having individual strengths. They help enable managers to lead diverse teams and recognize the competitive advantage of employing individuals on the spectrum. Many individuals with autism have various skills that can give companies a competitive edge, such as a detailed focus, an endurance for repetitive tasks, or an ability to spot deviations in data. As a result, they have the potential to be successfully employed in data analysis, media editing, or medical coding.

AHRC and Specialisterne are exceptional leaders in providing opportunities for individuals on the autism spectrum. ICare4Autism thanks Ms. Shapiro, Mr. Zobrovsky, and Mr. Grein for their initiatives in the autism workforce movement, and for providing inspiration to create more inclusive opportunities for autistic individuals in the workplace and in our communities.

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The Power of Self-Advocacy

Car’Melo Grau and Stephen Holden present The Power of Self-Advocacy on the first day of the ICare4Autism Conference.

The first day of the 2014 ICare4Autism International Autism Conference, which took place on June 30th, was focused on Global Autism Workforce Initiatives. These initiatives were supported by a wonderful presentation titled The Power of Self-Advocacy, which emphasized the importance of creating opportunities to empower those on the autism spectrum. This presentation was given by Car’Melo Grau, President of the YAI NYC Self-Advocacy Association, as well as member Stephen Holden. It was introduced by Tom Ott, Staff Support Member of the YAI NYC Self-Advocacy Association.

Car’Melo and Stephen highlighted the tools that permit each person to assist and advocate for themselves, as well as support others in their quest to live a full, happy, successful life. First, they described Personal Outcome Measures (POMs), which analyze if individuals have been given enough choices and opportunities to reach important goals in their lives. Twenty-one specific POMs were identified in interviews of people with disabilities, which were conducted by The Council on Quality & Leadership, in conjunction with YAI. POMs help individuals focus on where they currently are in their lives, and where they hope to be.

At YAI, practice interviews take place to help individuals express their goals and needs by analyzing their Personal Outcome Measures. The outcomes are measured by being “present”, or “not present”; the present qualities mean that the individual has full potential in that area. After the interview, feedback is given to the individual to help better assist them in their efforts to live fulfilling lives, including the goal of gaining employment. The POMS that are measured help YAI better assist the individuals to achieve their desired outcomes, and are used to see if the outcomes an individual wants to achieve improve over time.

In addition, Car’Melo and Stephen shared stories of times where they faced struggles, and how they were able to overcome them with the support of others who helped empower them. They emphasized that everyone should act as an advocate for those with autism disorders and other disabilities. They expressed that advocates should listen carefully, speak up for others, and look out for each other. These incredible self-advocates showed all of the guests at the conference how critical it is to give support to those on the autism spectrum, as it can help them achieve great things and live fulfilling, successful lives.

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Marcia Scheiner, an Excellent Leader in the Autism Workforce Movement

Marcia Scheiner discusses developments in the autism workforce movement on the first day of the ICare4Autism conference.

The first day of the ICare4Autism International Autism Conference was dedicated to Global Autism Workforce Initiatives, and these initiatives were supported by a fantastic presentation that was delivered by Marcia Scheiner. Ms. Scheiner is the Founder and President of the Asperger Syndrome Training & Employment Partnership (ASTEP), and is dedicated to the development of workforce programs that include those on the autism spectrum. Her presentation, Becoming an Autism-Friendly Employer, provided exceptional reasons why it is in every company’s best interest to integrate autistic individuals into their workforce.

Ms. Scheiner’s organization, ASTEP, is dedicated to suiting individuals in competitive-employment roles that highlight their strengths. ASTEP’s mission is to increase the quality of life for individuals with Asperger Syndrome by helping them become successfully employed. ASTEP focuses on solving individual challenges that many autistics face when they attempt to begin work, such as lack of support on the job or lack of understanding from co-workers. At ASTEP, employers are given a business-driven needs assessment and hiring plan, as well as other training models and methods towards becoming an autism-friendly organization. Furthermore, the company provides training for the individual, such as helping them with interviewing and social skills, and ongoing support.

According to Ms. Scheiner, all organizations should begin to develop regulatory and compliance requirements, such as having a specific percentage of their workforce consist of disabled employees. With the autism diagnosis rate being so high in the United States, it is absolutely essential for companies to implement programs that incorporate a significant amount of individuals touched by autism and other disorders.

Marcia Scheiner is an exceptional leader in the autism workforce movement. Her presentation provided the information that some people needed to motivate them to take the necessary steps to create opportunities for those on the autism spectrum. ICare4Autism thanks Ms. Scheiner for her developments with ASTEP, as the organization is incredibly dedicated to providing support for those with autism, and making the strides necessary for the autism workforce to grow.

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