Diagnosing Autism: A better approach

Mary Beth Bruder, director of the A.J. Pappanikou Center for Excellence in Developmental Disabilities Research, demonstrates one of the techniques she would use to diagnose an autistic child. 

Credit: Shawn Kornegay /UConn Photo

As the number of children with autism increases nationwide, the need for effective and consistent clinical diagnosis is growing.

A statewide committee recently published new guidelines designed to ensure health professionals, educators, parents, and all involved in diagnosing a child with autism are using proven and consistent practices.

The guidelines stress, among other things, that effective autism diagnosis and treatment requires a collaborative approach.

Mary Beth Bruder, a professor in UConn's Neag School of Education and in the UConn School of Medicine, was co-chair of the committee, which spent four years developing the "Connecticut Guidelines for a Clinical Diagnosis of Autism Spectrum Disorder."

"Diagnosing autism doesn't require a snapshot, it requires a comprehensive, interdisciplinary look at the child," says Bruder, who heads a doctoral program in early childhood intervention in the Department of Educational Psychology and is director of UConn's A.J. Pappanikou Center for Excellence in Developmental Disabilities Research, Education, and Service.

"Physicians, educators, social workers, and speech pathologists are among the many professionals that should be involved in first the diagnosis, and then the treatment of a child with autism. A complete picture is required. And parents play a crucial role."

Laura Kern, a third-year doctoral student in educational psychology at the Neag School, is both the mother of a 9-year-old son with autism and one of the parents involved in providing the data and insights needed to craft the new guidelines.

She says one of the things she learned during her son's diagnosis is that as many as 51 percent of parents report dissatisfaction at the lack of continuity in the process.

The new Connecticut guidelines provide a step-by-step, interdisciplinary guide.

"The guidelines address parents' concerns in a systematic way, and if you approach a diagnosis systematically, you're more likely to reach needed services and early interventions more effectively and efficiently," Kern says.

"It was incredible to be part of the process of creating the guidelines, and to see so many different state agencies, parents, and professionals come together to create a united message about what a good diagnosis should look like."

Funded with an $86,000 grant from the U.S. Centers for Disease Control and Prevention (CDC), the guidelines are the result of a collaboration among members of the Connecticut Act Early Project, a partnership that includes experts from a wide range of leading childhood health and disabilities agencies, including the National Center on Birth Defects and Developmental Disabilities (NCBDDD).

The rising number of children with autism makes this extremely important work, Bruder notes.

"Scientists are working very hard to determine why this increase is happening," she adds, "but essential to the process is consistency in how these diagnoses are being made.

Autism affects every aspect of a child's life, so it only makes sense to have people from each of those areas involved in realizing the positive outcomes that can come from appropriate and early interventions."

The hidden purpose of Games: Tracking, diagnosing ADHD

Noah Madson remembers being exhausted after hours of tests for his attention deficit hyperactivity disorder. "Boy, those were complicated," said his mother, Nancy. "He'd come out and say, 'My brain hurts.' "

Today, Noah's task is less of a headache. After the 14-year-old plays a video game for 20 minutes, his parents and teachers will have data that paint a comprehensive picture of how his mind is functioning.

Better yet, as the St. Louis Park, Minn., teenager plays the game more, his memory and processing speed might actually improve.

Noah is part of a pilot study for CogCubed, a Minneapolis-based startup that develops games to help diagnose and ameliorate cognitive disorders such as ADHD.

The company has already attracted $20,000 in funding from Google and is a semifinalist in the Minnesota Cup, a competition for entrepreneurs.

CogCubed was founded by a husband-and-wife team: game developer Kurt Roots and child psychiatrist Monika Heller.

Their goal is to use sensor technology to produce objective data about symptoms that are often hard to pin down, such as inattentiveness and hyperactivity.

The game that CogCubed is testing now uses Sifteo, a platform that consists of small cubes with screens on them.

The game, called "Groundskeeper," asks the user to use one cube - the mallet - to hit a gopher that pops up on the screens of the other three cubes. As the game goes on, distractions like rabbits and chirping birds come up, and the instructions change.

The cubes produce data on more than 70 different variables, including errors, response times and even whether the player is fidgeting.

Those data come together in a Web portal that clinicians, parents and teachers can use to evaluate a child's cognitive function in a very specific way.

"That's part of our excitement with it, that we're getting so much detailed information," Nancy Madson said. "I can't wait for it to affect (Noah's) education plan for the coming year."

This year, the Centers for Disease Control and Prevention released record numbers for ADHD diagnoses: 11 percent of school-aged children have been diagnosed with the disorder, including nearly 1 in 5 high-school-age boys.

It's not clear what's behind the increased numbers, which represented a 41 percent jump in the past decade and contributed to an FDA shortage of commonly prescribed ADHD medicines in 2011.

But, Heller said, one thing is clear: Caretakers for children with ADHD could use extra help.

"Six to 12 months is the average waiting period to see a child/adolescent psychiatrist (for a comprehensive evaluation)," she said. "How phenomenal would it be if Mom could have an assessment tool at home?"

CogCubed aims to start selling its "Groundskeeper" training game, which adjusts to each player's weaknesses to help improve cognitive skills, in the next few months. Noah and 36 other students with ADHD are testing that game, playing twice a day for three to five days a week.

Another version of the game that serves as a diagnostic tool won't be released until CogCubed receives FDA approval for it, Roots said. The game wouldn't replace comprehensive psychological evaluations, but would provide doctors with data to aid diagnosis.

In a University of Minnesota study, that version of the game matched a psychiatrist's ADHD diagnosis 75 percent of the time. The Continuous Performance Test, a computer-based diagnostic that clinicians often use, has about a 62 percent accuracy rate, Heller said, although that number varies.

"We're really trying to do something that is clinically validated," Roots said. "We don't want to make promises that we can't keep. We're doing the best we can to make sure we're not selling something that gets people's hopes up and doesn't work."

CogCubed is also beginning to partner with local autism centers to test the Groundskeeper games' ability to provide data about autism, Roots said.

It's important that products that tout improvement of cognitive function stay away from broad claims and focus their research on long-term effects, said Max Wiznitzer, a pediatric neurologist who serves on the professional advisory board for Children and Adults with Attention-Deficit/Hyperactivity Disorder.

"Can we improve working memory and teach them little tricks? The answer is yes," Wiznitzer said. "Will it somehow make that person tons better in their day-to-day functioning? ... That's where I'm concerned when people make these kinds of claims. It's not the miracle cure. I wish it were."

The amount of data that CogCubed collects could make it a game-changer in the mental health field, Heller said.

While a computer-based test just measures errors, the Sifteo cubes' sensors measure every move in between. That means there's less room for misdiagnosis - and more room to grow.

The results of the pilot study at Noah's school, Groves Academy, could help teachers customize lesson plans for each student's particular needs, Groves' assistant director of diagnostics Zach Eakman said.

"We'll really have great data, not only pre- and post-testing, but for years to come, to be able to see if there's any discernible differences specifically in those two areas we talked about, processing speed and working memory," he said.

Eakman said the school, which serves children with learning disabilities, was impressed by CogCubed's product.

"Groves gets approached a lot by outside therapies as potential partnerships," he said, adding that this is only the second study the school has agreed to be a part of in 35 years. "It's because of not only their research results, but their approach to research, which includes a commitment to third-party and (long-term) analysis."

Nancy Madson said she's thrilled about the game, which Heller said was designed to be "just boring enough" to prevent overstimulation.

"It's an opportunity for our son to become more self-sufficient with his ADHD and his learning differences," Madson said. "And it's fun."

US DSM-5 for diagnosing mental disorders published - Asperger's is Out!

In the manual, grief is newly medicalised as major depressive disorder (MDD). 

Credit: Adam G. Gregor /Alamy

The field of mental health will face its greatest upset in years on Saturday with the publication of the long-awaited and deeply-controversial US manual for diagnosing mental disorders.

Early drafts of the book, the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, or DSM-5, have divided medical opinion so firmly that authors of previous editions are among the most prominent critics.

Known informally as the psychiatrists' bible, the $199 tome from the American Psychiatric Association is the guidebook that US doctors will use to diagnose mental disorders. The latest edition is the first major update in 20 years.

Though not used in the UK, where doctors turn to the World Health Organisation's International Statistical Classification of Diseases (ICD), the US manual has global influence. It defines groups of patients, and introduces new names for disorders.

Those names can spread, and become the norm elsewhere, but more importantly, the categories redefine the populations that are targeted by drugs companies.

Criticisms have come from almost every corner. There are claims of expansionism, with common experiences and behaviours becoming newly medicalised.

Allen Frances

Temper tantrums become Disruptive Mood Dysregulation Disorder (DMDD); grief becomes major Depressive Disorder (MDD), according to Allen Frances, an American psychiatrist who chaired the task force behind the fourth edition of the manual.

Other behaviours get their own labels: overeating becomes binge eating disorder; keeping too much junk, a hoarding disorder; a bit forgetful could be mild neurocognitive disorder.

David Clark

David Clark, professor of experimental psychology at Oxford University, said "Mental health disorders are often hard to divide into clear categories, because too little is known about them, and there can be major overlaps. But the definitions are often valuable. For example, greater distinctions between various types of anxiety have led to more specific and effective treatments."

Nick Craddock, professor of psychiatry at Cardiff University, and director of the National Centre for Mental Health in Wales, said "Some of the stranger aspects of the US manual will have no impact in Britain. DSM-5 was flawed because definitions of disorders were sometimes changed on the basis of too little fresh scientific evidence."

"I don't believe the science has advanced sufficiently in 20 years since DSM-4 to warrant making a new system," he said. "That essentially is just a group of people agreeing on tweaking things and making them appear a little bit different. That to me is not a very helpful stage in the develop of psychiatric diagnosis. This is the wrong time in history to change the diagnostic system."

Changing the definitions of disorders alters who has them. That affects who gets drugs and other support, and who interventions are trialled on. If the criteria for attention Deficit Hyperactivity Disorder (ADHD) are broadened, then more people are likely to be diagnosed with the condition.

The arrival of DSM-5 will mean the end of Asperger's syndrome in the professional eyes of the US psychiatric arena.

Along with some other autism-related conditions, Asperger's will now be consumed by the new category of "autism spectrum disorder".

Carol Povey

Some people diagnosed with Asperger's are unhappy about the coming change. Carol Povey, director of the National Autistic Society's Centre for Autism, said: "The term Asperger Syndrome is a core part of their identity for many people and they understandably feel anxious about moves to remove the term. The changes won't prevent people from continuing to use it to define themselves and nor should it," she said.

Debbie Tucker, chair of the Asperger's Syndrome Foundation, said the label can be useful in treating people, but that some did not want to be labelled. "Labels only become unhelpful and sometimes dangerous if used to discriminate. People with Aspergers are vulnerable to this," she said.

Thomas Inse

Last month, Thomas Insel, director of the National Institute of Mental Health, declared that the organisation would not use DSM-5 definitions to set its research priorities. Writing about DSM-5 on his blog, he said: "The weakness is its lack of validity. Unlike our definitions of ischaemic heart disease, lymphoma, or AIDS, the DSM diagnoses are based on a consensus about clusters of clinical symptoms, not any objective laboratory measure."

Instead, he said the NIHM would lay the foundations for a new classification system, based on brain imaging, genetics, cognitive science and other research.

"We need to begin collecting the genetic, imaging, physiologic, and cognitive data to see how all the data – not just the symptoms – cluster and how these clusters relate to treatment response," he said.