6/24 - Latest in Autism News

Helping children with autism transfer new communication skills from home to school

A University of Manchester-led study is testing whether an intervention with parents and teachers can help children with autism transfer newly acquired social communication skills from home into school.

Previous research found that a therapy to enhance parent-child communication in children with autism can help improve their social communication. However, it did not provide evidence that the benefit spread wider into the school environment.

Children with autism generally have difficulty generalising new skills from one context to another, and this represents a challenge in spreading the benefits of therapy into other aspects of everyday life and development.

Autism is a common developmental disorder, with a prevalence of around 1% of the population. Its estimated UK costs, for childhood autism, are greater than the costs associated with other conditions such as childhood asthma, diabetes or intellectual disability.

The 'Paediatric Autism Communication Trial-Generalised' (PACT-G) study, funded by Efficacy and Mechanism Evaluation Programme (a partnership between the MRC and NIHR), will test new ways to transfer the child's improving communication skills into the education setting. Aimed at 2-11 year olds, the study will look to extend the parent-child therapeutic model to work in education in parallel to working in the home.

It will assess the impact of the intervention across pre-school and middle childhood and compare outcomes with those from previous research. Its design will also enable the researchers to study the mechanism behind this transfer of skills across different settings, and highlight the most efficient means of helping children and families in this area.

University of Manchester Professor of Child and Adolescent Psychiatry and Honorary Consultant Psychiatrist at the Royal Manchester Children's Hospital, Jonathan Green is leading the project and said, "This project is an exciting opportunity for us to test an extension of our approach using video feedback with parents of young children with autism to include similar training of professionals working with the children in their education setting. If this kind of integrated approach proves to add value for children's development, then it will have important implications for service delivery in the future. The trial also gives us a unique opportunity to investigate how these children generalise skills across contexts -- an important and fundamental question in the developmental science of autism."

The research team will work with school staff using the same techniques they use with parents, as well as encouraging parents and Learning Support Assistants to communicate regularly together about goals and strategies. The aim is to generate a similar change in school to that generated with parents in the home.

Professor Green added, "We hope that these two effects will add together into a greater combined benefit for the child. This study is just beginning and we won't know the results for a few years, but it is part of an ongoing programme to look at the needs of children with autism at different ages and to see if we can get interventions that build on each other through development to improve the lives of these children and their families."

One parent taking part in the study said "I realise the importance of understanding what he understands and making my communication directly relevant to the context of the interaction. It's a real partnership where we discuss the meaning of his communication and I always go away understanding him so much better with insight."

June 22, 2016, The above post is reprinted from materials provided by Manchester UniversityNote: Materials may be edited for content and length.


6/16 - Latest in Autism News

Links between autism and epilepsy deepen

Over recent years, medical research has uncovered a number of links between autism and epilepsy. The latest study investigating this relationship demonstrates that having a relative with epilepsy is a risk factor for autism.

Epilepsy and autism are known to be linked, but why this is the case is open for debate.

Autism is a mental condition characterized by difficulty in communicating, forming relationships, and an altered way of perceiving the world.

Epilepsy is characterized by bursts of intense electrical activity in the brain and seizures.

At face value, the two conditions do not necessarily look like they are related. However, the relationship between them is now well documented.

Around 20-30 percent of children with autism develop epilepsy by the time they reach adulthood, and autism is present in an estimated 15-50 percent of individuals with epilepsy.

Why the link exists is not known, but the latest research, conducted at University Hospital in Linköping, Sweden, solidifies them further.

Family links between autism and epilepsy

The new study, published this week in Neurology, investigates whether having a relative with epilepsy might increase the risk of an autism diagnosis.

"Other studies have linked the two conditions, however, our study looks specifically at the brothers and sisters and sons and daughters of people with epilepsy to determine a possible autism risk in these relatives."

Lead author Dr. Heléne E.K. Sundelin

The researchers delved into the data registry and identified 85,201 people with epilepsy, along with their siblings (80,511 individuals) and offspring (98,534 individuals).

Each person with epilepsy was compared with five other people of the same sex, similar age, and from the same country. The siblings of the people with epilepsy were compared with siblings and offspring of people without an epilepsy diagnosis.

Over the course of the 6-year follow-up, 1,381 of the participants with epilepsy and 700 of the people without epilepsy were diagnosed with autism.

The results show that people with epilepsy have an increased risk of being diagnosed with autism - 1.6 percent compared with 0.2 percent. The highest increased risk was seen in those diagnosed with epilepsy while in childhood (5.2 percent).

When the relatives of individuals with epilepsy were studied, they found a 63 percent increased risk of developing autism for siblings and offspring. The effect was most marked in the offspring of mothers with epilepsy, who had a 91 percent increased risk; offspring of fathers with epilepsy had a 38 percent increased risk.

Why the link between autism and epilepsy?

The findings mark another step toward understanding the relationship between the two disorders. By uncovering the similarities and links between them, researchers hope to gain a stronger understanding of the mechanisms at play in both conditions and, eventually, how they can best be treated.

As Dr. Sundelin says: "The goal is to find out more about how these two diseases may be linked so that treatments may be developed that will target both conditions." 

Why autism and epilepsy share common ground is not yet understood. Some scientists theorize that they might have a shared genetic basis. For instance, there has been some interest in the roles of GABA receptor genes and sodium channel genes in both epilepsy and autism. Other mutations in synapse-forming genes, including neuroligins, neurexins, and SHANK-3, have also been investigated as possibilities.

Alternatively, some researchers think that there might be a causal relationship; perhaps the seizures, in some way, produce the autistic features by damaging particular parts of the brain. This opens up the possibility that by treating epilepsy more effectively, autism diagnoses might be reduced. However, the results of the current study show that if there is a causal relationship, it is not the whole story.

Whether epilepsy drugs might reduce autism or vice versa is another question awaiting an answer. The relationship, as well-documented as it is, still holds a raft of mysteries.

June 16, 2016,  by Tim Newman


6/10 -Latest in Autism News

Software company hires autistic adults for specialized skills

For much of his adult life, 28-year-old Patrick Viesti has worked to keep the signs of Asperger's syndrome at bay, but even after a successful college career, finding a job was not easy.

"To truly be honest, I would have to say it was quite difficult," Viesti said.

Viesti said he had come off stiff or monotone during the interview process, reports CBS News correspondent Michelle Miller. However, his luck changed thanks to the software company he now works for. SAP recruited him and a number of other new hires this year because of their autism. 

"Someone is willing to give them a chance, to say to them, 'I want you for your skills, I want you for the experience that you bring to the table,'" Viesti said. 

A new study recently found that each case of autism costs $2.4 million over a lifetime, including the expense of special education and lost productivity for their parents. Meanwhile, 85 percent of autistic adults are jobless or underemployed. 

SAP's program is the brainchild of Thorkil Sonne whose 17-year-old son Lars is autistic. He realized that while those with autism might lack the social skills recruiters are looking for, they possess many attributes high on their radar as well: intelligence and memory, the ability to see patterns and attention to detail on repetitive tasks.

"If we could use skills like I saw among people with autism in software testing, data analysis, quality control, that would be phenomenal," Sonne said. "There is no reason why we should leave these people unemployed when they have so much talent and there are so many vacant jobs in the high tech sector."

An important part of leveraging the unique skills of autistic workers is creating a comfort zone.

For example, employees with autism may suffer low self-esteem and feel stressed, but a solution to that is clearly stated goals. Also, failing to "get" the water cooler talk or sarcasm can be helped by direct communication. 

Jose Velasco heads up SAP's "Autism at Work" program.

"What we teach is clarity in communications, empathy, try to understand, put yourself in someone else's shoes," Velasco said. 

As the father of two autistic children, Velasco recognizes it's important to train all employees for this new workforce, not just those with autism. 

"Most importantly, they need to be aware that this condition exists, and it is in the best benefit of the company to employ people that bring this type of skill set," he said.

Meantime, as Viesti digs into his job as an IT project associate, his Asperger's is out in the open, but he'd rather showcase his talents. He said when he meets someone on the job, they need to know "that I want to be able to work with them, bring out the very best within them."

"What they see is exactly who I am," Viesti said. 

SAP has hired 40 autistic workers at six locations globally. There's no data yet on whether the program's working, but the company tells CBS News there's anecdotal evidence the special skills these new hires bring are already merging well with their new teams.

June 10, 2016, CBS News

5/31 - Latest in Autism News

Neuroscientists illuminate role of autism-linked gene

A new study from MIT neuroscientists reveals that a gene mutation associated with autism plays a critical role in the formation and maturation of synapses -- the connections that allow neurons to communicate with each other.

Many genetic variants have been linked to autism, but only a handful are potent enough to induce the disorder on their own. Among these variants, mutations in a gene called Shank3 are among the most common, occurring in about 0.5 percent of people with autism.

Scientists know that Shank3 helps cells respond to input from other neurons, but because there are two other Shank proteins, and all three can fill in for each other in certain ways, it has been difficult to determine exactly what the Shank proteins are doing.

"It's clearly regulating something in the neuron that's receiving a synaptic signal, but some people find one role and some people find another," says Troy Littleton, a professor in the departments of Biology and of Brain and Cognitive Sciences at MIT, a member of MIT's Picower Institute for Learning and Memory, and the senior author of the study. "There's a lot of debate over what it really does at synapses."

Key to the study is that fruit flies, which Littleton's lab uses to study synapses, have only one version of the Shank gene. By knocking out that gene, the researchers eliminated all Shank protein from the flies.

"This is the first animal where we have completely removed all Shank family proteins," says Kathryn Harris, a Picower Institute research scientist and lead author of the paper, which appears in the May 25 issue of the Journal of Neuroscience.

Synaptic organization

Scientists already knew that the Shank proteins are scaffold proteins, meaning that they help to organize the hundreds of other proteins found in the synapse of a postsynaptic cell -- a cell that receives signals from a presynaptic cell. These proteins help to coordinate the cell's response to the incoming signal.

"Shank is essentially a hub for signaling," Harris says. "It brings in a lot of other partners and plays an organizational role at the postsynaptic membrane."

In fruit flies lacking the Shank protein, the researchers found two dramatic effects. First, the postsynaptic cells had many fewer boutons, which are the sites where neurotransmitter release occurs. Second, many of the boutons that did form were not properly developed; that is, they were not surrounded by all of the postsynaptic proteins normally found there, which are required to respond to synaptic signals.

The researchers are now studying how this reduction in functional synapses affects the brain. Littleton suspects that the development of neural circuits could be impaired, which, if the same holds true in humans, may help explain some of the symptoms seen in autistic people.

"During critical windows of social and language learning, we reshape our connections to drive connectivity patterns that respond to rewards and language and social interactions," he says. "If Shank is doing similar things in the mammalian brain, one could imagine potentially having those circuits form relatively normally early on, but if they fail to properly mature and form the proper number of connections, that could lead to a variety of behavioral defects."

Pinpointing an exact link to autism symptoms would be difficult to do in fruit fly studies, however.

"Although the core molecular machines that allow neurons to communicate are highly conserved between fruit flies and humans, the anatomy of the various circuits that are formed during evolution are quite different," Littleton says. "It's hard to jump from a synaptic defect in the fly to an autism-like phenotype because the circuits are so different."

An unexpected link

The researchers also showed, for the first time, that loss of Shank affects a well-known set of proteins that comprise the Wnt (also known as Wingless) signaling pathway. When a Wnt protein binds to a receptor on the cell, it initiates a series of interactions that influence which genes are turned on. This, in turn, contributes to many cell processes including embryonic development, tissue regeneration, and tumor formation.

When Shank is missing from fruit flies, Wnt signaling is disrupted because the receptor that normally binds to Wnt fails to be internalized by the cell. Normally, a small segment of the activated receptor moves to the cell nucleus and influences the transcription of genes that promote maturation of synapses. Without Shank, Wnt signaling is impaired and the synapses do not fully mature.

The finding raises the possibility of treating autism with drugs that promote Wnt signaling, if the same connection is found in humans.

"Because the link to Wnt signaling is new and hasn't been picked up in mammalian studies, we really hope that that can inspire people to look for a connection to Wnt signaling in mammalian models, and maybe that can offer another avenue for how loss of Shank could be counteracted," Harris says.

May 25, 2016, Massachusetts Institute of Technology, by Anne Trafton. Note: Materials may be edited for content and length.