New iPhone App Could Transform How We Diagnose Autism

A glimpse at the empowering future of smartphone medicine.

Earlier this week, from the comfort of an elaborately modern mid-town Manhattan hotel suite, I stared into the front-facing camera of a rose gold iPhone 6S Plus and contorted my face into a deep frown and, with the twinkle of a few green dots, caught a glimpse of the future of handheld healthcare.

I was in the suite to demo three new medical research apps that today become the newest members of Apple’s ResearchKit healthcare platform. And the app in front of me — the one I was making peculiar faces at — was a childhood autism and anxiety screener called Autism and Beyond. Developed by Duke University, the app uses facial recognition algorithms to track a child’s responses to various stimuli, screening them for signs of autism. While by no means a replacement for a standard autism screen — a rigorous by-appointment process that typically involves a variety of medical professionals —the app can alert parents to potential abnormalities in a child’s behavior or assuage anxious parents that a particular behavior is scanning as normal.

“This kind of assessment is expensive and requires an enormous amount of human capital," Dr. Helen Egger, Duke’s Chief of Child and Family Mental Health and Developmental Neuroscience told BuzzFeed News. "There's just no way we're going to meet the need simply by training more people because there just won't ever be enough people. With this app we can finally put something in the hands of parents to answer a simple question: ‘When should I worry? Is this typical? Or is this something I need to talk to a professional about?'”

Through Apple’s open source ResearchKit platform, Autism and Beyond can — with the explicit consent of parents — submit data to Duke’s researchers, engineers, and pediatricians to be compiled for autism research. For physicians, the aggregated data will hopefully give researchers the chance to diagnose autism earlier in children; for parents, the app just might give those without easy access to childhood mental health, the ability to catch early signs or simply preliminarily screen for the developmental disorder.

In my demo, I watched as the iPhone’s camera immediately keyed in to different “emotional landmarks” on my face (children using the app will only see the stimuli — videos of toys or friendly young men and women singing songs — but I was getting a glimpse of the technology behind the emotional recognition). When I smiled, the landmarks turned green; when I frowned, the landmarks lit up red, picking up on my distress. In the University’s initial tests, Egger and her team say that initial tests indicate the app codes a child's responses with accuracy close to that of an in-person screen performed by a researcher.

If the app is indeed that accurate, Autism and Beyond could potentially provide a valuable tool to countless families struggling to diagnose their children. For Dr. Ricky Bloomfield, a professor, pediatrician and member of Duke team, the project is personal. “I have a daughter who was diagnosed with autism between six and seven years old. But autism can be diagnosed as early as 18 months. If we'd known earlier we'd have had more tools to help our daughter and it would have dramatically decreased the guilt we felt as a parents,” he said.

And it’s not just autism. At John’s Hopkins, neurology professors Gregory Krauss and Nathan Crone have used ResearchKit to create an app that tracks epilepsy patients in the hopes of eventually developing an Apple Watch seizure detector. In the current version, users suffering from seizures can use the gyroscope and motion sensor inside the Apple Watch to track their seizures, monitor their heart rates, and log and answer survey questions after the seizure has ended. Dr. Krauss believes the development of an accurate seizure tracker would drastically improve the quality of life for the 5.1 million people in the United States who have had a diagnosis of epilepsy or a seizure disorder, according to the CDC. “Many dealing with seizures are afraid to drive or work alone or stay at home. Being able to detect and alert professionals could give patients far more independence,” he said. The Hopkins app also aims to be a first step toward discovery for some epilepsy patients, who, because of the nature of the disorder, are often left in the dark after a seizure.

“Forty percent of people have some kind of warning before going into a seizure, but are amnesiac after and don't remember having one,” Dr. Crone added. “Patients using this app will be able to look at this and say, ‘whoa, I just had a seizure.” The iPhone app will also allow patients to track medication and carefully monitor how they feel before, during, and after seizures, in order to better understand and track their progress.

Third in the trio of ResearchKit apps debuting today is Mole Mapper, a melanoma screener developed by the Knight Cancer Institute in conjunction with Oregon Health & Sciences University, which aims to monitor and track moles well-before they become cancerous. Like Duke’s autism screener, the app doesn’t purport to detect or diagnose melanomas, — the FTC has previously fined apps that have claimed to identify melanomas — but instead offers the ability to track moles for abnormalities or suspicious growth.

The app asks a lot of its users, who’ll need to take photos of their moles, name them, and then “re-map” them every month. But according to Dan Webster, a Post-Doc at the National Cancer Institute and the developer of Mole Mapper, the app fills in the spaces between infrequent dermatologist visits. “Next time you go to the doctor, you don't just have a single image, you can see three, six, and nine months ago. It’s like six doctors visits in one.”

From a research perspective, each of these apps and their corresponding studies suggest the possibility of unprecedented scale, which, in turn, suggests the possibility of unprecedented and accelerated findings in their respective fields of study. It's a heartening and exciting thought, though for now, ResearchKit studies are still in their infancy and the value of data they compile is unknown. And in the early stages there are bound to be, despite Apple’s strict adherence to user data policies and encryption, privacy trepidation from users who aren’t accustomed to uploading personal health data. And there’s also the issue of cost; while some ResearchKit efforts like Autism and Beyond will provide smartphones to some clinical patients without the financial means to purchase them, the vanguard of health tech isn’t cheap. Programs that require the latest hardware can limit participation.

But together these apps hint at a future healthcare that feels...more empowering for patients and the families. Unlike the current system, where bureaucracy and soaring costs can create barriers between professionals and patients, smartphone enabled health apps offer patients the ability to be proactive and take a more active role in researching and possibly finding solutions for particular disorders, by way a kind of quantified vigilance.

Should it prove viable and effective,smartphone health tracking, like the kind proposed by these three apps, could help fill the gaps between doctor’s visits with additional insight into the disorders they’re examining. And it could help, in some small way, to quell the anxiety associated with the uncertainty of a checkup. More importantly, it could serve as an early warning system and ultimately provide a greater modicum of control for patients in medical situations that lack it.

It's this small bit of control — the ability to detect a potential behavioral abnormality in an infant, the opportunity to visualize the growth of a mole or the correlation between skipped meds and a seizure — that sheds light on a few of the many unknowns that can turn doctor and hospital visits into torturous, anxious affairs. And in the process of mapping and tracking and doing, something deeply therapeutic takes root. For epilepsy and melanoma patients, logging information and answering survey questions and seeing ResearchKit’s pool of respondent results might mean feeling less alone with your ailment. And for friends and family who might often feel powerless, contributing to the studies offers the ability to assume a present, supportive, and active role in helping with research.

“People want to manage their disorder and see that evolution and parents want to help to be more present and engaged,” Krauss said of his epilepsy app and the broader smartphone based research system. “And I think today we see the early steps toward the opportunity to help greatly with that.”

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