Autism is not just for boys: Study highlights that autism in girls is still likely to be vastly under-detected
For a long time, autism has been considered a condition that affects more boys than girls. Currently, there is only 1 girl diagnosed with autism for every 4 boys. For years, researchers have been trying to get to the bottom of why this divide exists. Autism looks different in girls than boys Different studies over the years have suggested differences in brain structures that made boys more likely to have autism, or that girls have a natural “protective effect” against autism. One study theorized that girls with more “male-typical” brain structures were more likely to have autism, helping reinforce the misconception that autism is mostly a male condition. However, other research has shown that boys and girls present the symptoms of autism in different ways, and that girls are more likely to be able to “camouflage” those symptoms, except in the most severe patients. What this means is that those health care practitioners who are assessing these girls may be missing the symptoms of autism, simply for the reason that those symptoms do not look like what they are expecting to see in a child with autism. Current assessments and data are boy-focused It makes sense that if autism is thought of in the medical community as a mostly male disease, and boys present their symptoms more obviously than girls, that diagnostic assessments have historically skewed toward autism traits prevalent in boys. Therefore, when boys are assessed by a specialist, and their behaviors and delays look the same as those that were seen in previous boys with autism, a diagnosis can be relatively clear. However, this pattern—using data based on boys to assess all children and primarily finding those same patterns in boys—may be creating a circular pattern of logic that shuts out girls who have autism, merely because they don’t present in a way that is easily seen through the lens of the most commonly used assessments. Study suggests autism is under-detected in girls One recent study, published recently in Science Alert, suggests that in the brains of mice, both male and female brains may be just as likely to have autism. What this means for the medical community is that the number of girls with autism is likely to be vastly underestimated, and that we need new data sets and new ways of diagnosing that include girls in the picture. In the study, researchers studied two groups of mice, all from a previously-studied family line which had synaptic mutations and characteristics consistent with autism in humans, including certain neurologic deficits and lower signaling proteins than were found in mice with no characteristics of autism. The mice in the autism group also showed social deficits as well. The key finding in this study is that there were no significant differences in the physical brain or neurological structures between males and females, nor were there significant differences in the social behavior of the male and female mice in the autism group. For more information on this particular study, find the overview at: https://www.sciencealert.com/new-evidence-highlights-a-serious-flaw-in-our-perception-of-autism Future studies need to include more girls All of this suggests what many in the healthcare community, as well as parents of girls with possible developmental or behavioral delays have always suspected, which is that autism in girls continues to be vastly under-detected. We urgently need to start finding and generating data that shows the true prevalence of autism among girls, and developing diagnostic assessments that do a better job of recognizing the unique ways in which girls present with autism, so that girls have an equal chance to receive early interventions that can create major differences in their development throughout their lives. The lead researchers in the study note that we need to include many more girls with autism in clinical studies, so we can record their symptoms and behaviors and eventually work those traits into existing diagnostic assessments. We are committed to removing bias from autism diagnosis At Cognoa, our data scientists have focused on balancing gender bias in diagnosis since day one. One of our main goals as a company is to help make sure that autism is not only diagnosed quickly and simply, but also equitably, so that no one is left out of the help they need because of their sex, race, ethnicity, or socio-economic status. To this end, in developing Canvas Dx, the first FDA-authorized AI for diagnosis of autism, we actively sought thousands of diverse patients, including both boys and girls with varied presentations and comorbidities, as well as children from a range of racial, ethnic, and socioeconomic backgrounds. We have trained our AI to represent and account for differences in gender, race, ethnicity, and socioeconomics, recognizing, for example, that girls with autism show different traits than boys. Every child deserves an equal chance at care In addition, the AI diagnosis itself is not based on preconceived or subjective notions of who should have autism and who should not. Our AI is developed to even the playing field, assessing patients without bias or prejudice regarding who they are or how they present. It’s just clean, robust data going through a well-trained process to arrive at a likelihood of autism for all children. In this way, we are cutting through old prejudices about autism, its presentation, and its prevalence, so that we can help provide equal help to all patients, no matter the structure of their brain, the state of their social development, or what body they happen to be born into. Find out more about how Canvas Dx is trained at https://cognoaprodstg.wpengine.com/technology/.
Autism: Awareness, Acceptance, Action
By: Lani Hessen, Director of Advocacy, Cognoa, and Pediatric Occupational Therapist (OTR/L) Autism impacts an estimated 1 in 54 children in the U.S. today. Autism is a spectrum, representing a tremendous range of skills and challenges spanning learning and communication, socialization and developmental behaviors. Autism impacts children and families of all backgrounds, regardless of race, ethnicity, location, or wealth. As such, autism care is a spectrum of care that aims to best support the individual needs of children and families. It includes a combination of awareness and education, acceptance, and action, on behalf of all aspects of society and community — schools, employers, healthcare providers and policy-makers alike — to ensure that children and families living with autism have equitable access to services and opportunities. April is a month to underscore the urgency and value of autism awareness, acceptance and action. At Cognoa, we speak with many self-advocates who express their desires for acceptance of their differences, which are many times underappreciated and underutilized skills and gifts. We hear from adults living with autism and their desire to be accepted and valued in the workplace. We hear from caregivers and families and their desires for recognition of their children’s needs as soon as possible to help them to access the support and care they need. This month, we share the meaning of “autism acceptance” from a self-advocate, parents, advocacy organization leader, and autism educators, researchers and clinicians: Dennis is a 27 year old author and creative consultant, who is also an autism self-advocate. Dennis’ mother, Debbie, is an advocate for the autism community and is connected with organizations including the Autism Science Foundation (ASF) and The Color of Autism. Dr. Dennis Wall, Cognoa’s Founder, and Associate Professor of Pediatrics and Psychiatry at Stanford University. Simran Garcia, a parent and autism advocate with The Autism Community in Action (TACA). TACA emphasizes autism action this month with various opportunities for engagement with the community and learning. Jennifer is a parent of a teenager on the autism spectrum, and a freelance graphic designer for Cognoa. Dr. Jennie Trocchio is an autism educator with Positive Development. Dr. Jennifer Shannon, Regional Medical Director for Cognoa, and Child and Adolescent Psychiatrist Dr. Sharief Taraman, Cognoa’s Chief Medical Officer, practicing pediatric neurologist, and CHOC’s Division Chief of Pediatric Neurology.
Can AI Help With Autism Diagnosis?
https://www.forbes.com/sites/cognitiveworld/2020/03/19/can-ai-help-with-autism-diagnosis/?sh=7a914cf764a3#42ed3bcc64a3#new_tab An Interview with Cognoa’s CEO Brent Vaughan In the US, one in five children are living with a diagnosable behavioral health disorder; however, only 21% of those children who are diagnosed receive needed treatment. Often, parents have to wait one to three years to receive a proper and accurate diagnosis, and an individualized treatment plan for their child. For the last 15 years, the average age of one particular group of patients, those with Autism Spectrum Disorder (ASD), the diagnosis has remained unchanged at 4 years, 4 months. In the first years of life, we are missing the window when treatments have the greatest impact on brain development. In the age of innovation, Artificial Intelligence can help clinicians improve the speed of Autism Diagnosis and allow children and families who live with ASD to begin treatment programs during the critical period of early childhood. Read full article here.
Multi-modular AI Approach to Streamline Autism Diagnosis in Young Children
Halim Abbas, Ford Garberson, Stuart Liu-Mayo, Eric Glover & Dennis P. Wall Scientific Reports volume 10, Article number: 5014 (2020) Cite this article 2 Altmetric | Metricsdetails Abstract Autism has become a pressing healthcare challenge. The instruments used to aid diagnosis are time and labor expensive and require trained clinicians to administer, leading to long wait times for at-risk children. We present a multi-modular, machine learning-based assessment of autism comprising three complementary modules for a unified outcome of diagnostic-grade reliability: A 4-minute, parent-report questionnaire delivered via a mobile app, a list of key behaviors identified from 2-minute, semi-structured home videos of children, and a 2-minute questionnaire presented to the clinician at the time of clinical assessment. We demonstrate the assessment reliability in a blinded, multi-site clinical study on children 18-72 months of age (n = 375) in the United States. It outperforms baseline screeners administered to children by 0.35 (90% CI: 0.26 to 0.43) in AUC and 0.69 (90% CI: 0.58 to 0.81) in specificity when operating at 90% sensitivity. Compared to the baseline screeners evaluated on children less than 48 months of age, our assessment outperforms the most accurate by 0.18 (90% CI: 0.08 to 0.29 at 90%) in AUC and 0.30 (90% CI: 0.11 to 0.50) in specificity when operating at 90% sensitivity. Read full publication here.
How AI Can Transform the Autism Services Industry
https://www.forbes.com/sites/forbesbooksauthors/2020/03/12/how-ai-can-transform-the-autism-services-industry/?sh=778224d867ac#24e4cf8567ac#new_tab Ronit Molko, Ph.D., BCBA-D describes how AI will become the norm of autism services, as it has in other industries, including Cognoa’s digital therapeutics that create a more proactive role for parents and pediatricians in the diagnostic and treatment processes to accomplish early intervention. Read full article here.
Cognoa teams up with Autism Learning Partners to distribute its smartphone screening app
https://www.fiercebiotech.com/medtech/cognoa-teams-up-autism-learning-partners-to-distribute-its-smartphone-screening-app#new_tab Pediatric digital therapeutics developer Cognoa has teamed up with Autism Learning Partners, a specialized treatment provider, to put its autism screening app in the hands of parents to help track their children’s development. Read the full article here.
Newly Expanded Recommendations on Autism Seek to Catch More Kids Who Might Fall Through the Cracks
https://elemental.medium.com/newly-expanded-recommendations-on-autism-seek-to-catch-more-kids-who-might-fall-through-the-cracks-5a7e1db50c7a#new_tab WRITTEN BY Shannon Ashley The American Academy of Pediatrics (AAP) recommends that all children get screened for autism spectrum disorder at their 18- and 24-month well-child checkups. Today, those recommendations have been significantly enhanced. These new guidelines now recommend developmental and behavioral surveillance at 9-, 18-, and 30-month visits in addition to the standardized ASD screening at 18 and 24 months old. Under the former recommendations, many children who experience social, academic, and behavioral challenges miss out on early intervention therapies because they lack an actual ASD diagnosis. This is what happened to me. When I was a toddler, doctors labeled me with “sensory processing issues,” but no autism diagnosis, because I didn’t display the stereotypical symptoms that were associated with ASD in the early 80s. These days, we know so much more about autism. We now know that girls on the spectrum are frequently overlooked just because the disorder often doesn’t present itself among us with the same traditional symptoms as boys. The bulk of existing autism research has focused on boys and tragically skewed the scientific community’s understanding of autism. As a result, many girls with ASD either go undiagnosed, or they get their diagnosis much later in life. Again, this was the case for me. I didn’t receive my autism (Asperger’s) diagnosis until I was in my mid-thirties and had a daughter of my own with speech regression, sensory processing issues, and a certain “rigidity” resembling obsessive-compulsive syndrome (OCD). After a frenectomy at two years old to take care of her posterior tongue tie, she required intensive speech and physical therapy. It was a battle to get insurance to cover her treatment for even 6 months. Aetna wanted to cut her off at just 14 sessions, or 7 weeks. My daughter was still not diagnosed with autism back in 2016, although Iwas. And I have always held a bit of doubt about whether or not my child received all of the help she really needed. Frankly, I have mostly felt alone when it comes to any “early intervention.” I could tell that my daughter had a tongue tie when she was just an infant, but it took two years for me to find a pediatrician who would even listen to my concerns and examine her properly. As a result, we battled difficulty with breastfeeding, colic, GERD, and oral aversion. I also learned to question my instincts as a mother. Although my eventual ASD diagnosis at age 34 was something of a relief, it made me angry too. Sometimes, I’m still angry about it. I spent my whole life feeling as if something was wrong with me, as if I was weird and wrong. I missed out on years of the therapy and guidance I needed. Early intervention that could have changed my entire life. Every time I struggled in school, and every time I struggled in my relationships, my doctors and teachers all wrote me off as not living up to my full potential. “Shannon, you’re so much smarter than this,” was the mantra of my teenage and college years. And it was terrible. I suffered for decades as a person with an atypical brain living in a neurotypical world and no support system. Even today, it is a deep frustration coming to terms with the fact that so much of that suffering was unnecessary. There’s no way on earth that I want my daughter to go through the same sort of pain. Which means I’ve had to advocate hard for my child to the point of “redshirting” her to spend a year in preschool instead of letting her go to kindergarten. She’ll start kindergarten next August at six, older than most of her peers, but she’ll also have gotten a much better foundation for the rest of her education. Today’s change to the AAP recommendations seems like a hopeful one. They now advise that families have more of a say in the care of their children. That means pediatricians are supposed to inform parents and caregivers of current research and findings so that together, the doctors and the families can get children the therapies they need as early as possible. Early intervention is vital, and it’s not about “curing” autism or even “fixing” other atypical behavior. It’s about supporting children when they are young to give them the best chance for a well-adjusted and fulfilled life. It’s also about empowering these kids’ parents to get their children into therapy early and fostering a healthier relationship between caregivers and pediatricians who need to work together for the sake of a better outcome. As it stands, too many families have had to bounce from doctor to doctor, or medication to medication, and valuable time has been wasted as families lose hope of any helpful diagnosis. People on the spectrum need support to thrive. We need to know that we’re not crazy or broken. And we deserve the chance to learn how to best use our brains to our advantage. What’s really exciting about the new recommendation is that issues like sensory processing disorder or even ADHD will no longer get in the way of early intervention treatments that a child with autism might need. “Starting services early is too important to let a lack of a confirmed diagnosis get in the way,” – Dr. Wendy Nash Without the new recommendation to examine behavior and development at months 9, 18, and 30, many children with sensory issues or ADHD risk having those conditions overshadow any potential or coexisting autism. It is well-established that children who undergo treatment for sensory processing issues, as both my daughter and I did, often miss out on other helpful therapies. Like autism support. And that’s a shame because it could impact them for life. Early intervention matters. About 90% of the brain’s neural connections are made between 0 and 5 years old. If kids don’t get the early therapy they need in those years, those vital connections can’t be made. Currently, there’s a company working on software, digital therapeutics, diagnostics and medicines to empower pediatricians in early diagnosis and treatments. Cognoa is conducting a Pivotal Study to demonstrate the effectiveness of its FDA designated breakthrough device to aid in the diagnosis of autism spectrum disorder in
ASD symptoms in toddlers and preschoolers: An examination of sex differences
Rosmary Ros‐Demarize, Catherine Bradley, Stephen M. Kanne, Zachary Warren, Andrea Boan, Clara Lajonchere, Justine Park, Laura Arnstein Carpenter Abstract Although considerable work has documented higher prevalence rates of autism spectrum disorder (ASD) in boys, fewer studies have focused on sex differences within samples of young children at‐risk for ASD. This study examined sex differences in ASD symptom domains and ASD screening outcomes among toddlers (18–35 months) and preschoolers (36–72 months) with ASD‐related concerns. Participants included 480 children between 18 and 72 months evaluated by university‐based ASD specialty clinics. Results revealed significant sex differences in severity of social communication (SC) deficits across age groups. Within the toddler group, girls diagnosed with ASD displayed greater SC deficits according to standardized observation and clinician severity ratings. Within the preschool group, girls diagnosed with ASD were rated by parents as having more severe SC deficits, but these differences were not corroborated by standardized observations or clinician ratings. No sex differences emerged for severity of restricted repetitive behaviors (RRBs) for either age group. Across the entire referred sample, boys and girls did not differ in terms of scores on commonly used screening instruments. Importantly, results suggest that two of the most commonly used ASD screeners (i.e., Modified‐Checklist for Autism in Toddlers‐Revised with Follow‐up and Social Communication Questionnaire ) may underidentify RRBs in toddler and preschool‐aged girls as screening scores were only influenced by severity of SC deficits. Greater SC deficits in young girls with ASD along with its impact on screening status suggests greater attention be placed on the under‐identification of ASD in girls as well as current screening measures’ ability to tap into the topography of ASD symptoms across genders. Autism Res 2020, 13: 157–166. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. Read full publication here.
Digital Therapeutics in Pediatric Behavioral Health — A unique opportunity to improve the standard of care and lifelong outcomes.
By Brent Vaughan, CEO and Co-Founder, Cognoa. We are experiencing a mental health crisis:one person in every four in the world will develop one or more behavioral conditions during their lifetime. Today in the U.S., one in five children have a diagnosable behavioral health disorder and only 21% of those children receive needed treatment. Read full article here.
What are the challenges and opportunities of running clinical trials of digital therapeutics?
https://medcitynews.com/2019/09/presentation-highlights-challenges-and-opportunities-in-digital-therapeutics-clinical-trials/?rf=1https://medcitynews.com/2019/09/presentation-highlights-challenges-and-opportunities-in-digital-therapeutics-clinical-trials/?rf=1#new_tab Digital therapeutics clinical trials enable collection and analysis of data in real time, but considerations like standardization of analysis, trial endpoints and placebo controls are critical, experts at the DTx East conference in Boston said. Read full article here.