Stuttering

Findings offer new insights with potential to inform diagnosis and treatment PHILADELPHIA, Oct. 16, 2024 /PRNewswire/ -- Researchers at Children's Hospital of Philadelphia (CHOP) announced the results of a new study highlighting significant genetic links in speech and language disorders in children. The findings, published today in the journal Brain, mark the first time that researchers have studied the genetic basis of linguistic differences separately from other conditions. Genetic factors are known to play a role in speech and language disorders, and the researchers hoped their study would bridge a gap in knowledge to better understand this critical area impacting child development. The research was a collaboration between CHOP's Department of Speech-Language Pathology, the Division of Neurology and the Department of Biomedical and Health Informatics (DBHI). "Our findings highlight the intricate relationship between genes and speech and language development," said Jan Magielski, the study's first author and a data scientist within CHOP's Division of Neurology and Department of Biomedical and Health Informatics. "We hope that the novel connections between genetic causes and specific speech and language disorders reported in the study will offer new and innovative possibilities for earlier intervention and personalized treatment plans." In the study, researchers analyzed electronic medical records of more than 52,000 children treated at CHOP to identify and analyze 26 broad speech and language diagnoses. They found that genetic causes play a major role in speech and language disorders, which are diagnosed more frequently in children between the ages of two and five. While conditions like aphasia, characterized by difficulty speaking, and speech apraxia, or trouble making speech movements, were accurately identified, some speech and language disorders were found to be frequently undetected. Most importantly, stuttering is often underreported in medical records. Their innovative data analysis approach allowed researchers to make three crucial observations. First, they found significant variations in the frequency of speech diagnoses, with mixed receptive-expressive language disorder and developmental disorder of speech and language being the most common diagnosis. Second, the authors observed that speech and language disorders have considerable overlap with neurodevelopmental disorders, movement disorders, and epilepsy. Lastly, the researchers noted that distinct speech characteristics can be linked to specific genes and overlap with known neurodevelopmental conditions. The study connected the genes STXBP1, PTEN and CACNA1A with speech and language disorders. Certain variants of STXBP1 were associated with aphasia while variants of the gene MYO7A were linked with delays in speech and language due to hearing loss. Additionally, in a subset of 726 children with whole exome sequencing data, researchers identified rare genetic changes, linking associations of UQCRC1 and KIF17 with expressive aphasia, MROH8 and BCHE with poor speech, and USP37, SLC22A9, and UMODL1 with aphasia. "In the future, we anticipate more targeted studies that delve deeper into the genetic landscape of speech disorders," said Joe Donaher, PhD, CCC-SLP, a senior study author and the Research and Academic Program Director at CHOP's Center for Childhood Communication. "Our study results underscore the need for focused investigations, particularly in areas like stuttering, where genetic research has significantly lagged behind other fields." This study was supported by The Hartwell Foundation through an Individual Biomedical Research Award. This study received support from the National Institute for Neurological Disorders and Stroke, and intramural CHOP funds from the Epilepsy NeuroGenetics Initiative (ENGIN). Magielski, et. al. "The clinical and genetic spectrum of paediatric speech and language disorders." Brain. Online October 16, 2024. DOI: 10.1093/brain/awae264. About Children's Hospital of Philadelphia: A non-profit, charitable organization, Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, the hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. The institution has a well-established history of providing advanced pediatric care close to home through its CHOP Care Network, which includes more than 50 primary care practices, specialty care and surgical centers, urgent care centers, and community hospital alliances throughout Pennsylvania and New Jersey, as well as the Middleman Family Pavilion and its dedicated pediatric emergency department in King of Prussia. In addition, its unique family-centered care and public service programs have brought Children's Hospital of Philadelphia recognition as a leading advocate for children and adolescents. For more information, visit . Contact: Kaila M. Revello Children's Hospital of Philadelphia 267-426-6054 [email protected] SOURCE Children's Hospital of Philadelphia WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

An international research group succeeded in identifying the probable origin of stuttering in the brain. An international research group led by researchers from the University of Turku and Turku University Hospital in Finland has succeeded in identifying the probable origin of stuttering in the brain. Stuttering is a speech rhythm disorder characterised by involuntary repetitions, prolongations or pauses in speech that prevent typical speech production. Approximately 5-10% of young children stutter, and an estimated 1% continue to stutter into adulthood. A severe stutter can have a profound negative impact on the life of the individual affected. "Stuttering was once considered a psychological disorder. However, with further research, it is now understood to be a brain disorder related to the regulation of speech production," says Professor of Neurology Juho Joutsa from the University of Turku. Stuttering may also be acquired as a result of certain neurological diseases, such as Parkinson's disease or a stroke. However, the neurobiological mechanisms of stuttering are not yet fully understood, and where it originates in the brain remains uncertain. The findings from brain imaging studies are partly contradictory, and it is challenging to determine which changes are the root cause of stuttering and which are merely associated phenomena. Stuttering localised in the same brain network regardless of its cause Researchers from Finland, New Zealand, the United States and Canada developed a new research design that could provide a solution to this problem. The study included individuals who had suffered a stroke, some of whom developed a stutter immediately after it. The researchers discovered that although the strokes were located in different parts of the brain, they all localised to the same brain network, unlike the strokes that did not cause stuttering. In addition to people who had suffered a stroke, the researchers used magnetic resonance imaging (MRI) to scan the brains of 20 individuals with developmental stuttering. In these individuals, the stuttering was associated with structural changes in the nodes of the brain network originally identified in relation to causal stroke lesions -- the greater the changes, the more severe the stuttering. This finding suggests that stuttering is caused by a common brain network, regardless of the aetiology (developmental or neurological). The key nodes of the network identified by the researchers were putamen, amygdala and claustrum located deep within the brain, and the connections between them. "These findings explain well-known features of stuttering, such as the motor difficulties in speech production and the significant variability in stuttering severity across emotional states. As major nuclei in the brain, the putamen regulates motor function and the amygdala regulates emotions. The claustrum, in turn, acts as a node for several brain networks and relays information between them," explains Joutsa. The results of the study provide a unique insight into the neurobiological basis of stuttering. Locating stuttering in the brain opens up new possibilities for medical treatment. Researchers hope that in the future, stuttering could be effectively treated, for example, with brain stimulation that can be targeted specifically to the now identified brain network.

BASEL, Switzerland, Nov. 15, 2023 (GLOBE NEWSWIRE) -- Noema Pharma, a clinical-stage biotech company targeting debilitating central nervous system (CNS) disorders, today announced Robert Lasser, M.D., M.B.A has joined the Company as Chief Medical Officer (CMO). “Dr. Lasser brings over 25 years of CNS experience with a successful track record of medical leadership for neuroscience development and commercialization, and I am excited to welcome him to our leadership team,” said Ilise Lombardo, M.D., Chief Executive Officer Noema. “Rob’s insight and experience leading global development programs will be invaluable as he spearheads the execution of our ongoing clinical studies. I look forward to working with Rob as we continue our mission of developing new and transforming medicines for patients across multiple disease indications.” Dr. Lasser is a seasoned biopharma executive with over 25 years of experience in the CNS space, spanning clinical practice, academic research, large pharma and biotech. Most recently, he held an executive role at Sage Therapeutics, where he led the development of zuranolone (ZURZUVAE®) in depressive disorders. Before that, he was the Chief Medical Officer at MedDay Pharma. Prior to joining MedDay, he was the Head of Neurodegenerative disorders at Roche, where he oversaw the Phase 2 and 3 programs for gantenerumab through 2017. Earlier in his career, Dr. Lasser held various roles at pharmaceutical companies, including managing the medical launch and lifecycle of lisdexamfetamine (VYVANSE®) at Shire, the first medicine for treating Binge Eating Disorder, the launch of the first long-acting injectable atypical antipsychotic RISPERDAL CONSTA® at Johnson & Johnson, and developing iloperidone (FANAPT®) at Novartis in the late 1990’s. Dr. Lasser completed his Geriatric Psychiatry fellowship at the National Institute of Mental Health, and his residency in psychiatry at McLean Hospital. He obtained an M.B.A from the University of Pennsylvania Wharton School of Business, a M.D. from Boston University School of Medicine, and a B.A. in Biochemistry from Dartmouth College. “I am excited to join Noema Pharma ahead of a catalytic year of important milestones that set the stage for the next phase of the Company’s growth,” said Dr. Lasser. “Throughout my career, I have sought to join companies with a clear dedication to Neurology and Psychiatry disorders to match my commitment to those patients and families. Working with the dedicated team at Noema to bring novel therapies to those fighting devastating CNS conditions is part of that continuing devotion.” About Noema Pharma Noema Pharma ( ) is a clinical-stage biotech company targeting debilitating central nervous system (CNS) disorders. The Company has a well-differentiated pipeline with four mid clinical-stage therapeutic product candidates in-licensed from Roche. Noema currently has four active clinical trials in highly undertreated CNS conditions: Ph2b Childhood Onset Fluency Disorder (persistent stuttering), Ph2/3 pain in Trigeminal Neuralgia and Ph2b seizures in Tuberous Sclerosis Complex. The Company has completed a Phase 2a clinical trial in adult patients with Tourette Syndrome that is currently being extended with an adolescent cohort. The Company has also completed preclinical validation studies with its triple reuptake inhibitor with plans to enter clinical development in 2024. Noema Pharma was founded in 2019 by the leading venture capital firm Sofinnova Partners. Current investors also include Forbion, Gilde Healthcare, Invus, Jeito Capital, Polaris Partners, UPMC Enterprises, and an undisclosed investor. Contacts: Alex Lobo Stern Investor Relations, Inc. alex.lobo@sternir.com