Autistic Disorder

A recent study links the FRYL gene to a new neurodevelopmental disorder in humans. They used fruit flies to establish that the loss of a functional copy of the FRY-like transcription coactivator (FRYL) gene is the underlying cause of this new disorder in fourteen individuals. A recent study from the lab of Dr. Hugo J. Bellen, distinguished service professor at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) links the FRYL gene to a new neurodevelopmental disorder in humans. They used fruit flies to establish that the loss of a functional copy of the FRY-like transcription coactivator (FRYL) gene is the underlying cause of this new disorder in fourteen individuals. The study was published in the American Journal of Human Genetics. FRYL belongs to the Furry protein family which is evolutionarily conserved from yeast to humans. The functions of FRYL in mammals are largely unknown, and variants in FRYL have not previously been associated with a genetic disorder. "This foundational study paves the way for not only a better understanding of the biological role of this gene but also opens avenues to study this new disorder," Dr. Bellen said. Finding a cohort of 14 patients with FRYL variants In collaboration with Dr. Wendy Chung, who was initially at Columbia and later at Boston Children's Hospital, the team recruited fourteen unrelated individuals through the Pediatric Cardiac Genomics Consortium, the SPARK consortium, and the GeneMatcher website. The individuals presented with developmental delay, intellectual disability, dysmorphic features, and other congenital anomalies in multiple systems including heart and gastrointestinal issues. A few also had autism, seizures, and low muscle tone. To find the genetic cause for their symptoms, they analyzed the DNA of these individuals. Upon examining their exome (i.e. the protein-coding part of the genome), they found that a majority of individuals were missing portions of the FRYL gene and the remaining individuals had missense mutations that are akin to misspellings in the gene, all of which result in a FRYL protein that is either non-functional or has a reduced function. Further, they found that FRYL variants were not genetically inherited but arose spontaneously in all individuals except one. Using fruit flies to identify the cellular location and function of FRYL "To understand in which cells and how this protein functions, we turned to the fruit fly model," said lead author Dr. Xueyang Pan, who is a postdoctoral fellow in the Bellen lab. Humans have two Furry genes, FRY and FRY-like, whereas flies have one furry (fry) gene which bears close sequence resemblance to its human counterparts. First, they found that this gene is expressed in multiple tissues in flies including the central nervous system where it is present in neurons but not in glia, a cell type that provides physical and chemical support to the neurons. Next, they found that the loss of both copies of this gene was lethal at the embryonic or larval stage, which gave a clue that it plays a critical role during development. Dr. Pan and others then created mutant clones lacking fry in the wings and eyes of flies with a normal genetic background outside the clones. The loss of fry causes developmental defects such as multiple wing hairs in the mutant wing clones as well as small, rough eyes caused by cell death in the mutant eye clones. Modeling human FRYL variants in fruit flies The team then created transgenic flies with the four missense variants found in affected individuals using two different genetic methods. One of the variants exhibited traits characteristic of severe functional loss of the protein, whereas two others behave as partial loss-of-function variants. In summary, these findings support the idea that fry is critical for the proper development of various organs in fruit flies, and insufficient functional levels of its human counterpart FRYL cause a previously unknown neurodevelopmental disorder. This study sets the stage for future explorations to discover gene mechanisms and explore potential therapies for this condition.

HIAWATHA, Iowa, March 13, 2024 /PRNewswire/ -- Caravel Autism Health, a leader in the diagnosis and treatment of young children on the autism spectrum, is hosting a ribbon-cutting ceremony on Thursday, March 14 to celebrate the grand opening of a new, state-of-the-art autism therapy clinic for families in the Cedar Rapids area. Caravel's team of childhood autism specialists has been improving outcomes for children with autism since 2009. The new clinic, located at 1125 Dina Court in Hiawatha, offers a comprehensive range of services including evaluation, diagnosis, customized Applied Behavior Analysis therapy, family support and counseling. ABA uses positive reinforcement to help young children build language and communication skills and improve focus. ABA is recognized as the most effective treatment for children with autism by the American Academy of Pediatrics and the Centers for Disease Control and Prevention. One in 36 children is on the autism spectrum. According to Caravel CEO Mike Miller, "Caravel recognizes that families in too many communities don't have access to high-quality autism services. We've made a commitment to investing in new clinics and bringing expert providers into places where families have struggled to find care. ABA therapy changes lives by helping children who are on the spectrum achieve the best possible outcomes. We're excited to be opening our doors to families across the Cedar Rapids area." "For a child with autism, the ideal scenario is early diagnosis and therapy," explained Emily Harriott MA, BCBA, LBA, clinic director for Caravel in Cedar Rapids. "When we can begin ABA therapy at a young age, we can help that child reach his or her greatest potential." Harriott and her team at Caravel's Cedar Rapids clinic are currently enrolling new clients for evaluation and treatment. For information or to schedule an appointment, call 319-988-6169 or visit . About Caravel Autism Health Since 2009, Caravel Autism Health has been committed to helping families navigate the challenges of autism and providing leadership that creates better outcomes. Our team of clinical experts specializes in evaluation, diagnosis, and therapy for young children on the autism spectrum. Caravel's research-based and data-driven programs are designed to provide better outcomes that help children with autism reshape their development and embrace new ways of interacting with the world. SOURCE Caravel Autism Health

The Healthcare Information and Management Systems Society 2024 Global Conference and Exhibition takes place in Orlando this week with an estimated 30,000 attendees. Linus Health acquires Aural Analytics to expand speech analytics capabilities inus Health, a digital health company enabling early detection of Alzheimer’s and other dementias, acquired clinical-grade speech analytics company Aural Analytics. The deal includes Aural Analytics’ assets, including its technology and intellectual property. With the acquisition, Linus Health will add Aural's speech analytics to its multimodal cognitive assessments. The expanded capabilities will enable researchers and clinicians to identify cognitive impairment and better understand the characteristics of those impairments, according to the company. The acquisition expands Linus Health’s operations into the life sciences industry. Aural Analytics’ speech analytics software, called Speech Vitals, is used by healthcare systems and life science organizations in pharmaceutical research and clinical trials. It collects samples of speech from patients via app-based tests and evaluates them to assess cognitive conditions. Speech Vitals’ patented technology has been used to detect multiple neurological conditions, such as dementia, autism and ALS. The technology complements Linus Health’s focus on the early detection of Alzheimer’s and other forms of cognitive impairment and dementia by equipping healthcare providers with digital cognitive assessment tools. The company also expanded its cognitive health assessments with the hearing screener and the digital trail making test part B (dTMT). The hearing screener solution offers a simple tool to determine if the condition is related to mild cognitive impairment or dementia. The Linus Health dTMT is rooted in an executive functioning assessment trusted for eight decades but now revolutionized through innovative AI, machine learning and digital health technologies. RevSpring rolls out new solution to identify benefits coverage Payment solutions company RevSpring now offers Coverage ID, a solution that identifies benefits throughout the entire patient financial experience to improve cost estimates, enhance real-time eligibility results, increase revenue and save staff time.  Within RevSpring's end-to-end patient engagement and payments platform Engage IQ, Coverage ID conducts coverage discovery to fully apply available coverage, minimize patient out-of-pocket expenses and optimize payments, according to the company. “Engage IQ helps our customers increase revenue streams with a holistic and intelligent approach to patient engagement,” said RevSpring CEO Scott MacKenzie in a statement. “Because Engage IQ orchestrates the patient experience from end to end, we have a distinct ability to infuse coverage discovery throughout the entire patient journey. This increases pay rates while advancing revenue cycle goals for our healthcare customers.” Coverage ID takes a unique approach to coverage discovery by performing a complete and thorough scan of possible patient insurance with data analysis methodologies. This process funnels through multiple data sources and can identify active coverages at local, state and national levels that otherwise would have gone unutilized. Innovaccer acquires Pharmacy Quality Solutions Health tech company Innovaccer acquired Pharmacy Quality Solutions (PQS), a pharmacy-payer performance technology company. The deal will bolster Innovaccer's value-based care initiatives and combines PQS' pharmacy network with Innovaccer's connection with providers. PQS covers 95% of all community pharmacies and 10 of the top 10 Pharmacy chains by store count including national chains and independent pharmacy groups. In addition, it covers up to 60 million lives, representing 9 out of every 10 Medicare lives and partners with five of the top 6 Medicare Advantage health plans. It marks Innovaccer’s second acquisition in 3 months. “We are excited to work with the PQS team to create an ecosystem approach of accelerating Value-Based Care, with data and AI,” said Abhinav Shashank, co-founder and CEO at Innovaccer. “The possibilities that this acquisition brings to Innovaccer and our valued stakeholders pave a new area of growth. The acquisition not only expands our capabilities and expertise in improving patient outcomes, establishing clinical data exchange in payers and now by adding the PQS pharmacy solutions, we have created a connected ecosystem of payer, provider and pharmacy.” Philips taps AWS to scale digital pathology in the cloud Health tech company Royal Philips is tapping into Amazon Web Services's cloud technology to advance digital pathology solutions. The collaboration connects Philips’ expertise in digitization of pathology to optimize clinical workflows and AWS’ leadership in scalable, secure cloud solutions, the companies said Tuesday. The cloud-based digital pathology solutions will help improve workflow integration, access and reliability, delivering greater productivity and collaboration, Philips executives said. The solutions aim to help pathology labs efficiently store, manage and analyze growing volumes of digital pathology data and enable more pathology labs to adopt digital workflows to increase productivity. In addition, pathology labs will be able to optimize workflow efficiency and facilitate collaboration among specialists, enabling seamless integration with existing healthcare systems to deliver holistic patient care.   Through examination of patient tissue samples, pathology plays a crucial role in the diagnosis and management of a variety of diseases, particularly cancer. It's estimated that 70% of important medical decisions involve laboratory or pathology tests, which makes the availability of digitally stored pathology images particularly important. “By harnessing the power of the cloud to accelerate the digitization of pathology, we are improving the quality of patient care by enabling greater workflow efficiency and collaboration at scale,” said Shez Partovi, chief innovation an strategy officer and chief business leader enterprise informatics at Philips. “As the demand for pathology-based diagnosis continues to increase, we see digital pathology in the cloud as a critical enabler for productivity, scale and to further transform healthcare diagnostics by opening new avenues for research, education, and the integration of AI to further improve patient care.”   Tehsin Syed, general manager of health AI at AWS, said secure cloud-based offerings address the growing demand to store and utilize more data. "By digitizing pathology healthcare leaders can apply AI and ML to drive better insights.  Contact center vendor Talkdesk rolls out autopilot for healthcare Talkdesk, a healthcare customer service technology company, continues to build out its generative artificial intelligence tools for customers to use in contact center operations. Building on the recent announcement of Talkdesk Autopilot, the company introduced Talkdesk Autopilot for Healthcare, the next generation of its virtual agent specifically developed to handle patient and member use cases.  The solution connects with electronic health records (EHR) and other key systems to autonomously resolve complex needs and questions throughout the patient journey, from patient access and symptom checking to revenue cycle and patient services, according to the company. Talkdesk Autopilot is available across chat and voice channels in the Talkdesk Healthcare Experience Cloud. The company says its new healthcare-specific application supports the whole patient journey through integrations, workflows and GenAI models. While many call center automation solutions focus on deflecting callers to other online tools, Talkdesk Autopilot can perform tasks that patients request and seamlessly loop in human agents when necessary. The result is frictionless interactions and improved patient acquisition and loyalty. “Our consumers increasingly expect convenience and ease when engaging with their healthcare provider. Talkdesk Autopilot for Healthcare has helped us automate common patient calls and chats, freeing our staff to focus on helping our patients and families with the most complex needs," Jeff Kaplan, vice president of Patient Access at Memorial Healthcare System, said in a statement. " AI has amazing potential to help healthcare, but it’s critical to partner with vendors who understand the industry and can collaborate to build solutions to fit its unique requirements. We’re excited to continue to innovate with Talkdesk.”