Kennedy Krieger Institute, Inc.

MCLEAN, Va., Dec. 10, 2024 (GLOBE NEWSWIRE) -- Thought Leadership & Innovation Foundation (TLI), a not-for-profit organization that works at the nexus of science, technology and public health, proudly hosted "An Evening to Advance Autism Care" at The Tower Club in Vienna, VA and marked the highly anticipated launch of the Autism Knowledge Gateway (AKG). An AI-powered platform designed to connect families, clinicians and researchers with vital insights to advance autism care, the AKG has already shown its transformative potential to not only unite the autism spectrum disorder (ASD) community, but also to harness the power of what is already known about medical care for autistic patients while waiting for research that is still underway. “The event brought together a diverse group of attendees, including researchers, clinicians, caregivers, advocates and individuals with ASD, for a meaningful evening centered on improving access to basic medical care for autistic patients,” says Shawn Murphy, vice president, TLI. “This event was about more than launching a platform—it was about launching a movement. By making critical medical knowledge accessible to healthcare providers, parents, caregivers, advocates and patients, we can begin to bridge the gap in care for autistic individuals today, not years down the line.” Moderated by TLI Chairman and CEO, Bill Oldham, the presentations and conversations blended compelling data with deeply personal stories, energizing attendees to embrace the achievable aim of improved health outcomes. A dynamic panel discussion featured expert perspectives from leaders including: Neena Haider, PhD, Associate Professor, Harvard Medical SchoolChris D'Adamo, PhD, Director of Research, Center for Integrative Medicine, University of Maryland School of MedicineDeepa Menon, MBBS, MD, FAAP, MSHA, Kennedy Krieger Institute Heartfelt contributions from parents of children with ASD included Lisa Ackerman and Dawn Loughborough who shared their personal experiences. The AKG is dedicated to improving basic medical care for autistic patients by including over 40,000 peer-reviewed articles in an AI-powered research database for easy searchability, delivering evidence-based research directly into the hands of those who need it most—clinicians, caregivers and patients. The AKG is poised to revolutionize autism care by removing barriers to vital information, enabling healthcare providers to deliver effective treatment for comorbid conditions that significantly impact quality of life. “The launch of the AKG comes at a time when healthcare spending for children with ASD is significantly higher than for their non-autistic peers, and many providers feel ill-equipped to meet the complex needs of this patient population,” shares Murphy. “The AKG aims to close this gap by providing comprehensive, up-to-date resources and peer-reviewed medical interventions to improve patient outcomes.” Keri Schoenbrun, development director, TLI, says, "The evening proved to be a pivotal moment for the autism community, characterized by unity, collaboration and a shared commitment to actionable change. Diverse voices—parents, researchers and physicians—aligned behind the critical goal of enhancing healthcare access and outcomes for autistic individuals. This collaborative spirit underscored the power of the AKG to serve as a unifying platform for advancing care.” TLI is hosting free pilot programs for patients, caregivers and clinicians to further the AKG’s reach and impact. Donations to support expanded platform capabilities and outreach are also welcome. To learn more about the AKG or to support its mission, visit Autism Knowledge Gateway. About TLIThe Thought Leadership & Innovation Foundation (TLI) is a not-for-profit organization that works at the nexus of science, technology and public health, innovating for superior prevention, treatment and outcomes for those facing life-altering medical diagnoses. TLI helps patients across the country and around the world find better healthcare outcomes. Visit www.thoughtfoundation.org and follow us on LinkedIn.

FRIDAY, Aug. 9, 2024 -- There’s a good chance that if one child in a family has autism, another will also develop the disorder, a new study suggests. Children are seven times more likely to be diagnosed with autism if an older sibling has the disorder, researchers reported recently in the journal Pediatrics . “Pediatricians and family members have to keep a diligent eye on infants born into families with an already diagnosed autistic child,” said researcher Rebecca Landa , vice president and executive director at the Kennedy Krieger Institute’s Center for Autism Services, Science and Innovation. “Early referral for diagnostic evaluation is crucial to ensure support, resources and intervention.” For the study, researchers analyzed data from more than 1,600 infants with an older sibling with autism. The infants were evaluated repeatedly between the age of 6 months and 3 years old. Results showed that 1 in 5 children (20%) whose older sibling has autism are likely to be diagnosed with the disorder as well. The risk increases with the number of autistic siblings. More than 1 in 3 (36%) children will develop autism if they have more than one older sibling with the disorder, results showed. The study also found that the sex of a child significantly influences risk of autism. Younger siblings of female autistic children were more likely to develop autism (35%) compared to siblings of males (23%). On the other hand, male younger siblings had a higher likelihood of being autistic than females. About 19% of white families had autism reoccur in another sibling, compared with 25% across other races, results showed. “The scale and diversity of this group of infants, compared to our prior recurrence rate study published over a decade ago, gives strong evidence that these recurrence rates are reliable," Landa said in a Kennedy-Krieger news release. Maternal education also appears to play some role in a child’s risk of autism. Autism recurred in younger siblings about 33% of the time for moms with a high school education or less, researchers found. That risk decreased for mothers with higher education. “It’s crucial that we ensure families facing social inequities have access to resources, education and providers,” Landa said. “Every single child with autism and their family deserve this support.” Whatever your topic of interest, subscribe to our newsletters to get the best of Drugs.com in your inbox.

Researchers find that an easy-to-measure brain process may be a target or biomarker in measuring treatment outcomes in clinical trials in Batten disease. Early symptoms can be subtle. A child's personality and behavior may change, and clumsiness or stumbling develops between the ages of five and ten. Over time, cognitive impairment sets in, seizures emerge or worsen, vision loss begins, and motor skills decline. This is the course of Batten disease, a progressive inherited disorder of the nervous system that results from mutations to the CLN3 gene. "It is a devastating neurodegenerative disorder of childhood," said John Foxe, PhD, director of the Del Monte Institute for Neuroscience and co-director of the University of Rochester Intellectual and Developmental Disabilities Research Center (UR-IDDRC), "and while it is very rare, it is important to study and understand because it could inform what we know and how we treat it and other related rare diseases." A possible neuromarker In a new study, out today in theJournal of Neurodevelopmental Disorders, Foxe and a team of researchers from the University of Rochester Medical Center may be closer to that goal of understanding. The paper describes how they measured changes in brain function of participants with CLN3 disease, also known as 'juvenile-onset' Batten disease. Researchers found that the functioning of the auditory sensory memory system -- the brain system required for short-term memory recall -- appears to decrease as the disease progresses. They revealed this by utilizing electroencephalographic recordings (EEG) to measure the brain activity of participants with and without Batten disease as they passively listened to simple auditory beeps. The participants simultaneously watched a video of their favorite movie while the brain responses to these beeps were being measured. In the participants with Batten disease, the EEG revealed a decline in the response from the auditory sensory memory system as the disease progressed. There were no significant changes among the other participants. This finding suggests that this easy-to-measure brain process may be a target or biomarker in measuring treatment outcomes in clinical trials. "We needed to find a task that did not require explicit engagement or attention, and this is one of those kinds of tasks," Foxe said. "The brain produces the signal that we're looking at, regardless of whether the participant is paying attention to the beeps or not. It is an objective method that provides new insight into the brain function of a population with varying communication abilities." Leading Batten disease research & treatment There are 12 currently known childhood-onset forms of Batten disease, each genetically distinct from one another, and all significantly impact neurodevelopment. The University of Rochester Batten Center (URBC) is a recognized leader in research and treatment of this condition. URBC is designated a Center of Excellence by the Batten Disease Support and Research Association (BDSRA). The University is a designated Intellectual and Developmental Research Center (IDDRC), and its current principal project is aimed at neuromarker discovery in Batten disease. With several potential gene therapies for Batten disease currently in advanced stages of development, this recent finding continues the mission at URMC to identify biomarkers to evaluate the effectiveness of these experimental treatments. Progressing scientific findings Researchers in the Frederick J. and Marion A. Schindler Cognitive Neurophysiology Lab, where Foxe is co-principal investigator with Edward Freedman, PhD, are using these findings to leverage a Batten disease mouse model. They aim to measure the impact pharmaceuticals have on the auditory perceptual system. Researchers are starting with treatments already on the market for other conditions. "We think this potential biomarker is key to the possibility for us to screen these treatments in the mouse models. The auditory sensory memory marker provides a sensitive measure," Foxe said. "We'll be able to tell you pretty quickly if a treatment is having an impact and know if it is actually changing dynamics -- i.e., whether the system in the brain is improving, what the speed of improvement is, etc. I think that is a big deal." Additional authors include first author Tufikameni Brima, PhD, Edward Freedman, PhD, Kevin Prinsloo, PhD, Heather Adams, PhD, Kuan Hong Wang, PhD, Luke Shaw, and Emma Mantel of the University of Rochester School of Medicine and Dentistry, Erika Augustine, MD, of the Kennedy Krieger Institute, and Jonathan Mink, MD, PhD. This research is supported by the Schmitt Program in Integrative Neuroscience (SPIN) through the Del Monte Institute for Neuroscience pilot program, the National Institute of Neurological Disorders and Stroke, and the Eunice Kennedy Shriver National Institute of Child Health and Human Development.