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Medical News Feed

What effect does ADHD have on sexuality?

ADHD is a behavioral disorder that causes some people to become frustrated or hyperactive at inappropriate times. It is often lifelong and is usually managed by medications. It can often impact many areas of a person’s life, including their sexuality and relationships. Learn more about ADHD’s effects on sexuality here.

Pupillary reflex may predict autism

A new study examines the pupillary light reflex in infants and concludes that the amount of light the pupil lets in may be an accurate autism predictor.

Latest CDC autism figures show 15 percent rise

After conducting the largest study of its kind, the CDC may revise their estimates for autism prevalence. Is autism on the rise, or is diagnosis improving?

How inflammation and gut bacteria influence autism

A recent study looks at the links between the immune system, gut bacteria, and autism spectrum disorders. It uncovers some interesting interactions.

What are the early signs of ADHD?

Symptoms of attention deficit hyperactivity disorder present in many different ways. However, there are also many traits shared by people with ADHD. These can include irritability, lack of concentration, and fidgeting. This article helps you spot the signs so that people can be directed to the appropriate treatment.

Autism Speaks News Feed

Highlights from the 2018 meeting of the International Society for Autism Research May 9-12

Daily updates include new findings on associated health conditions, parent training, gender differences in brain development and more ...

Daily updates include new findings on associated health conditions, parent training, gender differences in brain development and more ...

May 11, 2018

TODAY AT INSAR: Daily Updates from the 2018 meeting

Understanding how adolescents with autism decipher emotions in others

Adapting the Autism Speaks/WHO Caregiver Skills Training Program for Ethiopia

Can sex differences in brain development help explain autism’s “female protective effect”?

The effect of nutrition and exercise on bone density in boys with autism

Supporting parents with online resiliency training

Supporting parents with online resiliency training 

May 11 at INSAR 2018, researchers with the Autism Speaks Autism Treatment Network (ATN) shared the promising early results of a pilot study evaluating the benefits of an online program that teaches parents resiliency skills that buffer daily stress and its emotional and physical toll.

Karen Kuhlthau, of Massachusetts General Hospital, led the study, which was funded through the ATN’s role as the federally funded Autism Intervention Research Network on Physical Health, which Dr. Kuhlthau directs.

The online program – called the “Stress Management and Resiliency Training/Relaxation Response Resiliency Training Program” (SMART-3RP) – is based on the principles and practices of mind-body medicine. It consists of nine, 90-minute sessions using skill-building exercises to teach a variety of relaxation techniques such as meditation, conscious acceptance and yoga.

The investigators enrolled 51 parents from across the United States in the study. Thirty-three, or 65 percent, completed at least six sessions – suggesting that the program was practical to use.

The results: On completion, participants gave the program an average score of 7.9 on a 1 to 10 scale of effectiveness in reducing their stress-related symptoms. Participants also reported significant improvements in resiliency, stress coping, social support and mindfulness over the course of the program. Most of the participants were mothers (89 percent), white (78 percent), married/partnered (76 percent) and had a college degree (80 percent).

“We are encouraged by the benefits that parents of children with autism reported from this practical and easy to access program,” Dr. Kuhlthau says.

What’s next? “Going forward we hope to improve the program by making it easier to implement and shortening the sessions,” Dr. Kuhlthau adds. “We also hope to perform a larger trial with a more-diverse group of parents.” The goal of this research to develop a program that’s widely accessible and effective in improving parent and child well-being.

Parents interested in participating in the expanded trial can contact Justin Farmer at

This INSAR presentation was part of a larger scientific session on “Family Issues and Stakeholder Experiences.” Find the full program of Autism Speaks-supported studies at INSAR 2018 below. 

The effect of nutrition and exercise on bone density in boys with autism

In recent years, research has found that people with autism tend to have lower bone density and more fractures, on average, than is typical for their ages.

May 20 at INSAR2018, researchers with the Autism Speaks Autism Treatment Network (ATN) presented the early findings of a study exploring possible causes and solutions. The research was funded through the ATN’s federally funded role as the Autism Intervention Network on Physical Health.

The study’s participants included 49 boys, ages 8 to 17, seen at MassGeneral Hospital for Children. Roughly half (25) had autism, and the others served as a comparison group.

The researchers assessed bone mineral density at multiple places in the body. They also asked the boys and their caregivers to complete a three-day diet and exercise diary.

The results: As expected, the boys with autism had lower bone density overall than did the comparison group of boys who didn’t have autism. In addition, the researchers found:

* On a standardized scale of physical activity, only 27 percent of the boys with autism fell into the “very physically active” category, compared to 79 percent of the other boys.

* On average, the boys with autism consumed significantly less protein, calcium and phosphorus, and more carbohydrates.

* Within the group with autism, the more protein, calcium and phosphorus a boy consumed, the greater his bone density.

Take-home message: “Our findings suggest that encouraging diets higher in protein and fortified dairy as well as increased high-level exercise may improve bone health,” says neurologist Ann Neumeyer, the study’s lead author and the medical director of the Lurie Autism Center, in Lexington, Massachusetts.

Calcium and phosphorus play important roles in bone formation, and both are particularly abundant in dairy products and fish. For children on dairy-free diets, supplements containing calcium and phosphorus may be needed, Dr. Neumeyer says. She calls on healthcare providers to assess dietary intake of dairy and protein in children with autism as part of their wellness care and be mindful of the increased risk for low bone density among these children.

What’s next? The research team hopes to expand the study to include more children with autism – including girls – to learn more about their nutritional needs and risk for low bone density and fractures.

This INSAR presentation was part of a larger scientific session on “Medical and Psychiatric Comorbidity.” Find the full program of Autism Speaks-supported studies at INSAR 2018 below.

Understanding how adolescents with autism decipher emotions in others

On May 10 at INSAR2018, Autism Speaks Weatherstone Fellow Katie Jankowski presented the early results of her study looking at how teens and tweens with autism decipher self-conscious emotions like pride and embarrassment in other people.

Her findings counter the common belief that people with autism suffer “mind blindness,” or the inability to read emotions in others.

To the contrary, Jankowski found that, while many adolescents with autism have difficulty automatically inferring what another person is feeling, they appear to deduce emotions based on logical expectations and the social rules that they’ve learned. This approach can present difficulties when there’s a mismatch between what another person might be expected to feel in a situation, she notes.

Jankowski enrolled 56 adolescent boys, ages 11 to 17, in her study. Thirty had autism, and 26 served as a comparison group. All had average to above-average intelligence (IQ).

She showed the boys four video clips of singing performances and asked them to rate each performer’s pride or embarrassment on a 1 to 4 scale.

The results: In one clip, a teen sings poorly and makes a face that clearly conveys embarrassment afterwards. When asked how the teen in the video was feeling, all the study participants – including those with autism – correctly rated the performer as “embarrassed.”

Similarly, they all correctly rated as “feeling proud” a teen who sang well and clearly looked pleased with the performance.

By contrast, the participants with autism were far less likely to correctly identify an expression of embarrassment when it followed a good performance or an expression of pride that followed an obviously poor performance.

Take home message: “Adolescents with milder forms of autism can recognize self-conscious emotions and do feel self-conscious emotions for others,” she explains. “Their real-world interpersonal challenges may reflect a strict adherence to learned social rules, even in situations where they may not work.”

While the boys were watching the video clips, Jankowski also tracked their brain activity with an MRI scanner. While all the boys shared similar patterns of brain activity, those who had autism had some atypical activity in parts of the brain associated with processing social cues and sensory information as well as picking out relevant information from a scene.

This could suggest that people with autism rely more heavily on abstract understanding of social situations and logical expectations versus automatic recognition of emotions, Jankowski says.

What’s next? The goal of Jankowski’s Weatherstone Fellowship project is to improve social-support programs and other interventions for people with autism who need and desire them.

This INSAR presentation was part of a larger scientific session on “Social Cognition and Social Behavior.” Find the full program of Autism Speaks-supported studies at INSAR 2018 below.

Adapting the Autism Speaks/WHO Caregiver Skills Training Program for Ethiopia 

Since 2015, Autism Speaks has been working closely with the World Health Organization (WHO) to develop and adapt its Caregiver Skills Training Program for underserved communities around the world, including the United States.

The program adapts evidence-based strategies to give parents, teachers and other community members practical and culturally appropriate strategies to support the development of children with autism and other developmental disorders.

May 10 at INSAR2018, Autism Speaks-funded researcher Rosa Hoekstra and her team described the process they were using to adapt and evaluate the Caregiver Skills Training for communities in Ethiopia.

To date their process has involved a series of four consultation meetings with local stakeholders. This has included meetings with parents, local psychologists and psychiatrists and representatives of private advocacy organizations in Ethiopia’s capital city of Addis Ababa, as well as meetings with parents, community workers and other stakeholders in a rural area of Ethiopia.

During the consultations, participants agreed that the program was addressing an urgent need in a practical and culturally appropriate way. They also made several recommendations for making the program more effective, acceptable and feasible in Ethiopia.

The results: Based on the feedback they received, the Ethiopian team is now testing an adapted Caregiver Skills Training program in Ethiopia. Its customized features include:

* Increased use of pictures and reduced reliance on text to ease use by caregivers with limited reading ability.

* Increased emphasis on teaching caregivers to apply the program’s strategies by playing with their children. In Ethiopian culture, caregivers don’t typically play with their children, Dr. Hoekstra notes. Rather children are expected to play with each other.

* Greater emphasis on countering negative beliefs and attitudes about children with autism and their parents. Most Ethiopian families affected by autism still experience severe stigma and social isolation, and many hold themselves responsible for their children’s disabilities.

What’s next? The Caregiver Skills Training team in Ethiopia is also looking for new partnerships with community health organizations to better meet the needs of children and families affected by autism and other developmental disabilities.

This INSAR presentation was part of a larger scientific session on “International and Cross-Cultural Perspectives.” Find the full program of Autism Speaks-supported studies at INSAR 2018 below.

Can sex differences in brain development help explain autism’s “female protective effect”?

On Wednesday May 9, at the annual INSAR press conference, social neuroscientist Daniel Yang, of The George Washington University, described his team’s discovery of a potentially important difference in brain development between boys and girls on the autism spectrum.

The finding may help account for the so-called “female protective factor” that results in autism being much less common in girls and women than in boys and men.

Autism Speaks helped launch Dr. Yang’s autism-research career with a 2014 Autism Speaks Meixner Postdoctoral Fellowship in Translational Research. He is now continuing his research with the support of National Institutes of Health grant to Kevin Pelphrey, one of his Meixner fellowship mentors.

The team began their study by using brain scans (MRI) to look at the thickness of the cerebral cortex – the highly folded sheet of brain cells that forms the surface of the brain – in 93 boys, ages 8 to 18, roughly half of whom had autism. (The two groups were matched across age and cognitive abilities.)

In particular, they examined a cerebral cortex brain network surrounding a brain structure called the right posterior superior temporal sulcus. This network is highly involved in social communication – for example, in understanding the intention of someone else’s eye contact or other actions. (Social communication disability is one of autism’s core symptoms.)

The results: The George Washington investigators discovered that this region of the cortex thinned significantly faster with age in the group of boys with autism compared to the group of unaffected boys. (See graph above.) They also found that, within the group affected by autism, the age-related cortical thinning was faster in the boys who had the most severe social-communication disabilities.

Next, the researchers tested whether there were similar autism-related differences in cortical thinning in 48 girls who had autism, compared to 45 unaffected girls. They found no evidence of advanced cortical thinning in this region of the brain or elsewhere.  (See graph above.)

Take home message: This suggests that autism may be neurobiologically different in boys and girls, at least for this brain network, Dr. Yang says. It’s also in line with a possible female protective effect, he says, in that the girls appeared to be less “vulnerable” to a possible disruption in the cortical thinning schedule in this brain area – which is critically important for social communication.

What’s next? “Our goal,” Dr. Yang says, “is to establish a solid foundation of science-based understanding that can guide the development of more accurate diagnosis, personalized interventions and support services for those who need and want them.

Autism Speaks at INSAR

Autism Speaks is proud to be a longstanding sponsor of the annual meeting of the International Society for Autism Research (INSAR), this year in Rotterdam, the Netherlands, May 9- 12. The conference is the world’s largest gathering of autism scientists, doctors, therapists, parents and individuals on the spectrum.

Events include more than 20 scientific presentations by Autism Speaks science staff, funded researchers and clinicians in the Autism Speaks Autism Treatment Network. Each provides a glimpse into the early findings of one or more highly promising research projects that was competitively selected for presentation by the INSAR leadership.

“Autism Speaks is honored to continue our sponsorship of the INSAR meeting as the leading conference for discoveries in autism research,” says Autism Speaks Chief Science Officer Thomas Frazier. “The studies presented this year cover the full range of research from genetics and biology to early brain changes to the delivery of tailored interventions. They represent meaningful advances in our understanding of the biology of autism and improvements in our ability to deliver interventions that improve lives.”

You can view the full lineup of Autism Speaks-affiliated presentations and activities in the program book below.

Also see the full video of the opening INSAR press conference below today's postings.

Watch Wednesday's Opening Press Conference below.



Flip through the Autism Speaks at INSAR2018 program book below...

Download the AS@INSAR program book here.

IACC announces top autism research advances of 2017

The U.S. Interagency Autism Coordinating Committee annual list of top 20 studies includes 8 funded by Autism Speaks and/or its Autism Treatment Network

The U.S. Interagency Autism Coordinating Committee annual list of top 20 studies includes 8 funded by Autism Speaks and/or its Autism Treatment Network

April 30, 2018

The Interagency Autism Coordinating Committee (IACC) has published its annual list of the past year’s highlights in autism research – 2017 IACC Summary of Advances in Autism Spectrum Disorder Research.

Eight of the “Top Twenty” reports came out of studies supported by Autism Speaks, either directly through research grants or through the Autism Speaks Autism Treatment Network (ATN) in its federally funded role as the Autism Intervention Research Network for Physical Health (AIR-P).

The twenty scientific papers spanned the broad range of autism research, including new findings on:

* early brain development in infants at risk for autism

* the interplay between genetic and epigenetic effects in autism

* the brain and behavioral effects of parent-led, play-based interventions

* a promising medication to curb obesity and diabetes risk related to the use of anti-psychotic medicines

* improved understanding of the benefits and limitations of the behavioral and diagnostic scales used by clinicians when diagnosing and meeting the needs of people who have autism.

“Autism Speaks is proud to have supported these ground-breaking studies in its commitment to being a catalyst for research breakthroughs that improve the lives of people who have autism,” says Autism Speaks Chief Science Officer Thomas Frazier. “This work is truly made possible by the passion and generosity of our volunteers and donors.”

The selections supported by Autism Speaks include:

Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age. Emerson RW, Adams C, Nishino T, et al. Sci Transl Med. 2017 Jun 7;9(393). [Autism Speaks research grant 6020]

Early brain development in infants at high risk for autism spectrum disorder. Hazlett HC, Gu H, Munsell BC, et al. Nature. 2017;542:348-51. [Autism Speaks research grant 6020]

A prospective study of the concordance of DSM-IV and DSM-5 diagnostic criteria for autism

spectrum disorder. Mazurek MO, Lu F, Symecko H, et al. J Autism Dev Disord. 2017 Sep;47(9):2783-2794. [Autism Speaks ATN and the AIR-P]

Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder. Andrews SV, Ellis SE, Bakulski KM, Sheppard B, et al. Nat Commun. 2017 Oct 24;8(1):1011. [Autism Speaks research grants 7659 and 6020]

Adaptive behavior in autism: minimal clinically important differences on the Vineland-II. Chatham CH, Taylor KI, Charman T, et al. Autism Res. 2017 Sep 21. [Autism Speaks science staff and Autism Speaks ATN and the AIR-P]

A randomized, placebo-controlled trial of metformin for the treatment of overweight induced by antipsychotic medication in young people with autism spectrum disorder: open-label extension. Handen BL, Anagnostou E, Aman MG, et al. J Am Acad Child Adolesc Psychiatry. 2017 Oct;56(10):849-856.e6. [Autism Speaks ATN and the AIR-P]

Parent-delivered early intervention in infants at risk for ASD: effects on electrophysiological and

habituation measures of social attention. Jones EJ, Dawson G, Kelly J, et al. Autism Res. 2017 May;10(5):961-972. [AS research fellowship 2140]

For more information about the IACC’s publications and activities, visit

For more on the top research studies of 2017, also see
Autism Speaks names top ten autism studies of 2017.”

Tune in: Research and health-related webcasts of interest to the autism community

A regularly updated listing of meetings, webchats, webinars and podcasts of interest to the autism community

Learn more in our regularly updated listing of presentations on new research and autism healthcare - including archived podcasts and videos of past webinars

April 30, 2018

“New treatments for autism: What’s on the horizon for clinical trials?” 

Listen to a new podcast interview with Autism Speaks Chief Science Officer Tom Frazier, hosted by Autism Science Foundation CSO Alycia Halladay.


You're invited: Oct 17 meeting of the Interagency Autism Coordinating Committee

The Interagency Autism Coordinating Committee
(IACC) will hold its next quarterly meeting on October 17, 2018, at the National Institutes of Health in Bethesda, Maryland, with a live webcast. The full-day meeting is open to the public and includes a public comment period. The IACC coordinates federal efforts related to autism.

Autism Speaks encourages members of the autism community to participate and make their views known. Learn more and register to provide public comment here.


Advances in autism research and healthcare

Webinars sponsored by the Autism Speaks Autism Treatment Network & the Autism Intervention Research Network on Physical Health

Advances in Autism Research & Care (AARC) is a free, monthly webinar series sponsored by the Autism Intervention Research Network on Physical Health (AIR-P) and the Autism Speaks Autism Treatment Network (ATN). Webinar topics alternate between research reports by ATN/AIR-P investigators and trending topics in autism healthcare. Though aimed primarily at educating healthcare providers, the webinars are open to the public. We extend a special welcome to members of the autism community.

Upcoming webinars for 2018 include:

Advocacy and Autism 

Autism BrainNet (post-mortem tissue donation for autism research)
Wednesday, May 30, from 1 to 2 pm Eastern Register here.

Send us your topic suggestions:

We would love your input on topics and presenters for our autism healthcare and research series. Our goal is to identify relevant topics and broaden our audience – starting with you. We are excited to collaborate and hear about your various research interests. If you have an autism-related topic that you want to learn more about, please fill out this short surveyFind links to all our past webinars here.  



Facebook Live Chat: The Autism Speaks Strategic Plan for Science 2018-2020




On December 14, 2017, Autism Speaks Chief Science Officer Tom Frazier and Chief Program and Marketing Officer Lisa Goring discussed Autism Speaks’ newly released Strategic Plan for Science 2018-2020 and took your questions.

* * *

Past meetings of the Interagency Autism Coordinating Committee (IACC)

The federal Interagency Autism Coordinating Committee (IACC) holds quarterly meetings at the National Institutes of Health in Bethesda, Maryland. The full-day meeting is open to the public and includes a public comment period. It can also be viewed via live webcast from 9 am to 5 pm. The IACC is charged with overseeing and coordinating autism-related research and services across federal agencies and departments within the National Institutes of Health. Autism Speaks encourages members of the autism community to participate in the meeting and make their views known.

Register to attend here.

Find meeting agendas  here.

View archived webcasts here.


Thanks to those who joined the July 18 "Autism and Health" Facebook LIVE chat with Autism Speaks Chief Science Officer Thomas Frazier. If you missed it, here's the archived webcast:




On June 2nd, Autism Speaks Chief Science Officer Thomas Frazier answered questions about autism research during a Facebook LIVE Chat with the Autism Speaks community. View the archived webcast below.





* * *

On Feb. 22nd, Donna Murray, Autism Speaks vice president for clinical programs and head of our Autism Treatment Network, hosted a Facebook Live chat, answering questions related to "Improving healthcare for people on the autism spectrum." You can view the archived webchat below or by clickinghere. Check out the comment section for related resources and links.



* * * 

On Jan. 25, Autism Speaks VP for Genomic Discovery Mat Pletcher hosted a Facebook Live chat about the Autism Speaks research program. View the archived chat - including an extended question and answer session below.

* * * 

CDC increases estimate of autism’s prevalence by 15 percent, to 1 in 59 children

Autism Speaks calls on nation’s leaders to adequately fund critically needed research and support services

Autism Speaks calls on nation’s leaders to adequately fund critically needed research and support services

April 26, 2018

The Centers for Disease Control and Prevention (CDC) today released its biennial update of autism’s estimated prevalence among the nation’s children, based on an analysis of 2014 medical records and, where available, educational records of 8-year-old children from 11 monitoring sites across the United States.

The new estimate represents a 15 percent increase in prevalence nationally: to 1 in 59 children, from 1 in 68 two years previous.

However, prevalence estimates varied widely between monitoring sites, with significantly higher numbers at sites where researchers had full access to school records. This suggests that the new national numbers reflect a persistent undercount of autism’s true prevalence among the nation’s children.

“These findings demonstrate that while progress has been made on some fronts, there is still much work to do,” says Autism Speaks President and Chief Executive Officer Angela Geiger. “They urgently warrant a significant increase in life-enhancing research and access to high quality services for people with autism across the spectrum and throughout their lifespan.”

Autism Speaks calls on legislators, public health agencies and the National Institutes of Health to advance research that helps us better understand the increased prevalence and the complex medical needs that often accompany autism. In doing so, policy makers should follow the U.S. Interagency Autism Coordinating Committee’s recommendation to double the autism research budget.

Autism Speaks also urges government leaders to advance policies that better provide individualized support and services in areas including education, transition to adulthood, residential options and employment.

Key findings of the new report include:

* Nationally, 1 in 59 children had a diagnosis of autism spectrum disorder (ASD) by age 8 in 2014, a 15 percent increase over 2012.

* But estimated rates varied, with a high of 1 in 34 in New Jersey (a 20 percent increase), where researchers had better access to education records. On the low side, autism’s estimated prevalence in Arkansas was just 1 in 77. “This suggests that the new national prevalence estimate of 1 in 59 still reflects a significant undercount of autism’s true prevalence among our children,” says Autism Speaks Chief Science Officer Thomas Frazier. “And without more and better research, we can’t know how much higher it really is.”

* The gender gap in autism has decreased. While boys were 4 times more likely to be diagnosed than girls (1 in 37 versus 1 in 151) in 2014, the difference was narrower than in 2012, when boys were 4.5 times more frequently diagnosed than girls. This appears to reflect improved identification of autism in girls – many of whom do not fit the stereotypical picture of autism seen in boys.

* White children were still more likely to be diagnosed with autism than were minority children. However, the ethnic gap had narrowed since 2012, particularly between black and white children. This appears to reflect increased awareness and screening in minority communities. However, the diagnosis of autism among Hispanic children still lagged significantly behind that of non-Hispanic children.

* Disappointingly, the report found no overall decrease in the age of diagnosis. In 2014, most children were still being diagnosed after age 4, though autism can be reliably diagnosed as early as age 2. Earlier diagnosis is crucial because early intervention affords the best opportunity to support healthy development and deliver benefits across the lifespan.

“It’s encouraging to see evidence of improved identification of autism in girls and minority groups,” Dr. Frazier says. “We must continue to narrow this gap while greatly speeding up the time from first concerns about a child’s development to screening, diagnosis and intervention. If most children aren’t being diagnosed until after age 4, we’re losing months if not years of intervention that can deliver benefits throughout their lives.”

Other findings

* The new report found that new diagnostic criteria for autism adopted in 2013 (DSM-5) made only a slight difference in prevalence estimates. Autism prevalence was slightly higher (by 4 percent) based on the older (DSM-IV) definition of autism compared to DSM-5. Future prevalence reports will be based fully on the DSM-5 criteria for autism and provide a better measure of the change’s impact.

* The nation still lacks any reliable estimate of autism’s prevalence among adults. As autism is a lifelong condition for most people, this represents an unacceptable gap in our awareness of their needs – particularly in areas such as employment, housing and social inclusion. Each year, an estimated 50,000 teens with autism age out of school-based services.

A wide range of resources for recognizing early signs of autism and for accessing support and services throughout the lifespan are available at

Autism Speaks encourages people to go to  and volunteer, donate and get others to come on board. Now is the time to make a difference for the millions of people with autism worldwide.

Whole genome sequencing reveals new type of genetic influence on autism

Research taps Simons’ and Autism Speaks’ whole genome databases to detect hidden structural DNA changes associated with autism

Research taps Simons’ and Autism Speaks’ whole genome databases to detect hidden structural DNA changes associated with autism

April 19, 2018

In a new study, an international team of researchers used the power of whole genome sequencing to discover a previously hidden type of genetic change associated with autism. They also discovered that these rare structural variations are inherited almost exclusively from fathers – for reasons yet to be discovered.

The report appears today in the journal Science.

“These unexpected findings broaden our appreciation for the enormous diversity of ways that autism develops, and in doing so, hold promise for the development of personalized therapies and services,” says Autism Speaks Chief Science Officer Thomas Frazier. “This study also illustrates the importance of the detailed, comprehensive research made possible through whole genome sequencing.”

The researchers analyzed the complete genomic sequences of 9,274 people in families affected by autism. The vast majority of these people had contributed DNA to the Simons Simplex Collection or the Autism Speaks MSSNG Whole Genome Sequencing Project.

Exploring the genome’s “dark matter”

The researchers linked increased risk for autism to rare structural changes (deleted or duplicated DNA sequences) in the still-mysterious “noncoding” region of the human genome.

This region makes up 98 percent of our DNA. It lies outside the 2 percent of our DNA that makes up our genes. (Genes “code,” or spell-out directions, for creating proteins. Proteins, in turn, control the development and activity of every cell in the body.)

Until recently, researchers largely ignored the noncoding portion of the genome, and some even dubbed it “junk DNA.” We now know that noncoding DNA plays a crucial if incompletely understood role in directing when and where our genes switch on and off. This precise coordination of gene activity is particularly crucial for brain development and function.

Hidden structural variations

Still, a role for non-coding structural variations, like the duplications and deletions identified in the new study, had not been widely investigated until now. This was due, in part, to the difficulty of detecting these variations and their effects.

The research team developed a new method for analyzing whole genome sequences that allowed them to both detect the rare noncoding structural changes and identify which ones disrupt the regulation of gene activity and contribute to autism.

“This represents an important step toward understanding how variation in the ‘switches’ that turn genes on and off influence the development of the brain and risk for autism,” says senior study author Jonathan Sebat, of the University of California San Diego School of Medicine. “Still larger studies could help to identify specific switches that are important and could significantly improve the value of [whole genome] DNA sequencing in the clinic.”

From basic science to applications that improve lives

The goal of clinical genome sequencing for autism is to guide the development of personalized plans to address each person’s needs for treatment and/or support services. This is particularly important for the many subtypes of autism that are accompanied by serious medical problems and cognitive disabilities.

“This kind of analysis can only be done using whole genome sequence data and is, in part, why we created MSSNG,” says study co-author Stephen Scherer. Dr. Scherer is the research director of the Autism Speaks MSSNG program. He also directs the Centre for Applied Genomics at Toronto’s Hospital for Sick Children (SickKids) and the McLaughlin Centre at the University of Toronto.

“Understanding different types of genetic variants is vital to understanding the biochemical pathways that underlie autism,” adds Dean Hartley, Autism Speaks senior director of discovery and translational science. “Once we understand a given pathway, we can design personalized interventions that support or change that pathway to increase a person’s quality of life.”

Follow these title links to learn more about:
Autism Speaks MSSNG program
Autism Speaks Strategic Plan for Science 2018-2020.


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Teens with Aspergers Social Groups?

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What is Autism?

About Autism: What is autism? Autism Spectrum Disorders (ASDs) are a group of neurologically-based developmental disabilities. Scientists do not know exactly what causes the problem. ASDs can impact a person's functioning across a wide range, from very mild to severe. Individuals with ASD are not different in appearance, but they may communicate, interact, behave and learn in ways that are different from typical peers.

Is Autism a common disorder?

Recent statistics from the U.S. Centers for Disease Control and Prevention (CDC) suggest that 1 in 68 people in the United States could be diagnosed with ASD. That means 24,000 children in Illinois have an ASD.

Autism Spectrum Disorders (ASDs) include:

*Autistic Disorder
*Asperger's Disorder
*Rett's Disorder
*Childhood Disintegrative Disorder
*Pervasive Developmental Disorder

What are some of the signs of ASDs?

People with ASDs may have problems with social, emotional, and communication skills. They might repeat certain behaviors and might not want change in their daily activities. Many people with ASDs also have different ways of learning, paying attention, or reacting to things. ASDs begin during early childhood and last throughout a person's life.

A child or an adult with ASD might:

Not play "pretend games" (like feeding a doll)
Not look at objects when another person points at them
Have trouble relating to others or not have an interest in other people at all
Avoid eye contact and want to be alone
Have trouble understanding other people's feelings or talking about their own feelings
Prefer not to be held or cuddled or may cuddle only when they want to
Appear to be unaware when other people talk to them but respond to other sounds
Be very interested in people, but not know how to talk, play or relate to them
Repeat or echo words or phrases said to them, or repeat words or phrases in place of normal language
Have trouble expressing their needs using typical word or motions
Repeat actions over and over again
Have trouble adapting when a routine changes
Have unusual reactions to the way things smell, taste, look, feel or sound
Lose skills they once had (for instance, stop saying words they were once using)

What Are the Earliest Most Reliable Signs of ASD?

Play Skills
At age... Did your child...
4-12 months Enjoy toys for their sensory value, mouthing, feeling, and hearing them
12+ months Use toys as they were intended feed dolls
16+ months Give objects identities other than intended (use blocks as cars or food)
30 + months Imaginative play make believe/role play

Social Interaction
At age... Did your child...
4 months Show interest in faces, smile back, initiate smiles
6 months Relate to parents with joy, smile often when playing
9 months Orient to name, play give-and-take
12 months Use gestures to get needs met, repeat actions, show objects
15 months Check parent's facial expression, draw attention to objects of interest, begin to show empathy
18 months Pretend play, attract parental attention by looks or gestures
24 months Enjoy playing next to children, offer toys
36 months Imagine self as a character, talk for objects, play show and tell, talk about feelings

Joint Attention
At age... Could your child...
2 months Exchange smiles
8 months Follow a caregiver with his eyes
9 months Follow a point
10 months Show objects
12 months Point to obtain an object
14 months Point to indicate to another an object of interest
14 months Look to others to gather social information

Investigate Further and Consider Autism if:
At age... Your child...
9 months Did not babble
12 months Did not point or gesture
16 months Did not use single words
24 months Did not use 2-word phrases
Any age Had a loss of language or social skills

What should you do if you think a child or an adult has an ASD?

If you or your doctor think there could be a problem, ask for a referral to see a developmental pediatrician or other specialist, and you can contact your local early intervention agency (for children under 3) or public school (for children 3 and older).

Right now, the main research-based treatment for ASDs is intensive structured teaching of skills, often called behavioral intervention.

It is very important to begin this intervention as early as possible in order to help your child reach his or her full potential.

Acting early can make a real difference!



For the Alabama Disabilities ADVOCACY Program or ADAP click here These are the folks that will stand up for your rights and help you make sure your child is receiving an appropriate education if you feel like you are having a problem. I highly recomend them. It's a right not a favor!

This site is in no way affiliated with the State of Alabama, Blount County Board of Education, Or any Governmental Entity. This site also has no affiliation with the Hayden School system. This site is independently owned and operated by Mike Tumlin. My mission is a simple one. Share & obtain, knowledge with everyone from all walks of life. The views and post shared on this site do not necessarrily reflect the view of myself or the members of this site.

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