Kennedy Krieger Institute, Inc.

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.

Project FIND-OUT facilitates early genetic diagnosis in infants 3 – 12 months of age with symptoms of genetic neurodevelopmental disorders BRENTWOOD, Tenn., Nov. 8, 2023 /PRNewswire/ -- COMBINEDBrain, a non-profit organization dedicated to fast-tracking cures for neurodevelopmental disorders, today announced the launch of Project FIND-OUT (Fast Infant Neurodevelopmental Diagnosis via Outpatient Testing), a collaboration among leading non-profit, academic, and industry organizations. Project FIND-OUT provides whole genome sequencing (WGS) to infants who have early symptoms of rare genetic neurodevelopmental disorders. The goals of the study are to expedite diagnosis of rare genetic neurodevelopmental disorders, to generate evidence on the benefits of genetic testing for patients and their families, and to build capacity at a local level for implementation of genetic testing programs. "Curtailing the diagnostic odyssey through broad genetic testing at first signs of symptoms promises to transform the diagnosis and management of children with neurodevelopmental disorders over the next few years," stated Dr. Seth Berger, M.D., Ph.D., a pediatric geneticist at Children's National Hospital. Dr. Natasha Ludwig, Ph.D., a pediatric neuropsychologist at Kennedy Krieger Institute, adds "Early diagnosis not only creates opportunities for improved care at the individual level, but will help us understand how these rare conditions present very early on which is critical for the development of innovative patient-centered approaches to treatment." Rare genetic neurodevelopmental disorders (RGND) have symptoms that present in early childhood and are markedly underdiagnosed. On average it takes 30 months to get a diagnosis from the time parents identify a concern (for those who get a diagnosis). A long diagnostic journey is difficult for families and expensive for the healthcare system. In addition, a late diagnosis may prevent patients from receiving the maximum benefit of treatments, which often provide the greatest benefit when administered early in life. Even in RGND without therapies (approved or in clinical trials), a genetic diagnosis can impact clinical management and improve patient outcomes. Dr. Terry Jo Bichell, Ph.D., M.P.H., Executive Director, COMBINEDBrain noted, "when my son was born, we knew something was wrong, but it took over a year to get a diagnosis. Finding out that our son had Angelman syndrome was a gateway to getting help for him and finding support for our family. Finding out is the first step on the path to hope." Broad Clinical Labs, LLC., a subsidiary of the Broad Institute of MIT and Harvard, was selected to provide clinical WGS and interpretation services. Broad Clinical Labs (BCL) focuses on transformative projects designed to increase access and adoption of genetic sequencing. Project FIND-OUT purchased BCL's $1,000 clinical WGS services offering which is a collaboration between BCL and Fabric Genomics leveraging the Fabric Genomics' GEM AI interpretation technology. Project FIND-OUT is unique in that it provides free whole genome sequencing, genetic counseling, and referral to specialists for symptomatic infants who meet straightforward inclusion criteria. These services will be provided virtually to families, so they do not have to travel to receive leading-edge diagnostic testing. Guide Genetics, which has a network of professional genetic counselors, an easy-to-use patient portal and lab referral platform will provide virtual genetic counseling services for the project. All RGND pathogenic diagnoses will be reported back to families and their healthcare providers to directly impact care. Dr. Kim Goodspeed, MD, Assistant Professor in the Departments of Pediatrics, Neurology, and Psychiatry and a Dedman Family Scholar in Clinical Care at UT Southwestern Medical Center commented that "a genetic diagnosis often sounds like a random combination of letters and numbers, but within those results is a compass that ends the diagnostic odyssey; it brings closure to families and lights the way along a treatment pathway." "We'd like to thank the project core team Dr. Natasha Ludwig, Dr. Kim Goodspeed, and Dr. Seth Berger, our industry partners and collaborators, and the families for participating in Project FIND-OUT," says Elizabeth Rountree, Diagnostics Lead at COMBINEDBrain, "The results from this study will help us understand the impact of genetic testing on families and increase access to genetic testing in the United States." The study is open to infants 3 – 12 months of age born in the USA who have 2 or more FIND-OUT symptoms: Feeding issues Issues with movement NICU admission Developmental delays Other (congenital malformations, atypical growth or specialist referral) Unprovoked seizures Tone For more information on Project FIND-OUT, please visit projectfindout.com. About COMBINEDBrain The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain) is a non-profit organization devoted to speeding the path to clinical treatments for people with rare genetic neurodevelopmental disorders by pooling efforts, studies, and data. About Broad Clinical Laboratories, LLC. Broad Clinical Laboratories, previously known as Clinical research sequencing platform, was founded in 2013 as a non-profit subsidiary of Broad Institute of MIT and Harvard to accelerate the genomics community and the world toward a better understanding, diagnosis, and treatment of disease by pursuing projects, developing products, and driving adoption of cutting edge -omics technologies and novel molecular assays. About Fabric Genomics Fabric Genomics' vision is to make it possible for all patients to have genomics-driven precision medicine. The company provides healthcare organizations with end-to-end clinical sequencing solutions that include the Fabric Enterprise software platform and expert clinical interpretation services needed to scale genetic testing. At the core of our platform is a suite of sophisticated AI algorithms and data knowledge systems that turn data into expert clinical insights. Headquartered in Oakland, California, Fabric Genomics supports clinical applications across a variety of use cases including rare disease, oncology, cardiovascular, neurological and women's health. To learn more, visit fabricgenomics.com and follow us on Twitter and LinkedIn. About Guide Genetics Guide Genetics () runs a global technology-enabled network of expert genetic counselors supporting a diverse set of customers in the genetics space. The Guide Genetics platform is a digital hub for genetic counseling and allows patients, providers, partners, and other stakeholders to tackle all elements of the complex modern genetic counseling patient journey. SOURCE COMBINEDBrain