Tag: Mental health

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Anti-Inflammatory Drug Target for Alzheimer’s, TBI, and Neurodegenerative Disease Identified

The results of research headed by a team at the University of Birmingham suggest that inflammatory conditions in the brain, including traumatic brain injury (TBI) and degenerative diseases such as Alzheimer’s disease and Parkinson’s disease, could be targeted with an existing developmental drug.

Using live cultures of human brain cells and slices of brain tissue obtained during neurosurgery, the researchers, headed by Nicholas Barnes, PhD, professor at the University of Birmingham College of Medicine and Health, investigated the role of the P2X7 receptor, which is responsible for triggering inflammatory signaling. Their findings revealed that these P2X7 receptors drive the release of cytokines involved in controlling inflammation. By blocking this receptor with a specific antagonist, the team was able to significantly reduce the inflammatory response in human brain tissue.

The team suggests that their results could open the door to treating a wide spectrum of chronic neurological conditions, including TBI, neurodegenerative diseases, and even psychiatric disorders such as depression and psychosis, which are increasingly understood to have a neuroinflammatory component.

Barnes said, “This exciting discovery marks a major step toward repurposing existing therapeutics to combat neuroinflammation at its source. The identification of this receptor could have far-reaching implications for some of the most debilitating and widespread brain disorders such as Alzheimer’s disease, Parkinson’s, and multiple sclerosis, or inflammation-linked psychiatric conditions like schizophrenia and depression.”

Barnes is senior and corresponding author of the team’s published paper in Brain, titled “P2X7 receptor-mediated IL-1β release by human brain tissue: the impact of CNS-penetrant potential therapeutics,” in which they concluded “Our findings provide direct relevant evidence for the use of P2X7R antagonism to inhibit human microglia-mediated inflammation, with arising potential benefits for patients with TBI and other neuroinflammatory diseases.”

TBI is a major cause of death globally, and there are currently there are no approved therapeutic drugs to improve clinical outcomes, “… emphasizing the clear unmet substantial clinical need,” the authors wrote.

The mechanical damage associated with TBI drives a neuroinflammatory response. “The purinergic P2X7 receptor (P2X7R) is a key driver of neuroinflammation in a range of animal models of traumatic brain injury,” the team continued. P2X7R is expressed by microglia, the resident immune cells in the CNS that are involved in many developmental, homeostatic and pathological roles. “It is well recognized that microglial activation and the hostile neuroinflammatory response arising after the initial insult provide a therapeutic window for pharmacological intervention,” the investigators further stated.

For their reported study investigating how brain cells respond to and manage inflammation, the team developed a way of turning a type of white blood cell into microglia, replicating a normal cellular transformation that has recently been identified to occur in the brain as a natural part of human aging. These microglia are the central coordinators of the immune system in the brain.

Using readily accessible human peripheral monocytes taken from blood samples, the researchers converted them into microglia-like cells—human monocyte-derived microglia (hMDM)—that were used to see how microglia are likely to respond to the inflammation signals. “This enabled us to demonstrate the ability of clinically relevant P2X7R antagonists, including brain-penetrant molecules, to curtail pro-inflammatory cytokine release,” they wrote.

The team showed that administering a P2X7 receptor antagonist interrupted the triggers that these microglia give off as they are damaged and die. Barnes said, “Studying human microglia has long been a major challenge: once removed from their native brain environment, they rapidly lose their defining characteristics, likely due to the absence of critical regulatory signals. Our approach involved the use of monocyte-derived microglia which provide a powerful, scalable, and virtually unlimited platform for studying human microglial biology with unprecedented precision.”

The team confirmed their results using adult human precision-cut brain slices that had been generated subsequent to neurosurgical resections. “Having identified the response in the human monocyte-derived microglia, this provided the impetus to translate these findings with human brain obtained following neurosurgical procedures, Barnes continued. “This successful translation means the next stage for this research is the development of clinical trials in patients with neurodegenerative conditions and patients with TBI where there are no effective pharmacological treatments to reduce the neuroinflammation and arising damage.”

In their paper the authors concluded, “The present study provides direct translational evidence from human cellular and brain tissue models to support the clinical use of P2X7R antagonists to limit secondary ATP-driven neuroinflammatory events, such as those that occur in TBI, and thus might improve the clinical outcomes for patients.”

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Reduced contagious yawning in psychiatric disorders: a systematic review of potential social-cognitive mechanisms

IntroductionContagious yawning has been proposed to reflect multiple aspects of social cognition, including empathy, emotional contagion, self-processing, Theory of Mind (ToM), and action observation mechanisms such as the human mirror neuron system (hMNS). However, its underlying mechanisms remain debated, with evidence suggesting additional roles for social attention, gaze allocation, social motivation, and neurobiological factors. This systematic review examined evidence for reduced contagious yawning in Autism Spectrum Disorder (ASD), schizophrenia-spectrum disorders, and psychopathic traits, and evaluated potential underlying mechanisms.MethodsPubMed, PsycINFO, and Scopus were systematically searched for clinical and mechanistic studies of contagious yawning in psychiatric and healthy populations. Studies were screened using predefined eligibility criteria, and risk of bias was assessed using design-specific Joanna Briggs Institute (JBI) critical appraisal tools. Twenty-three studies met the inclusion criteria.ResultsReduced contagious yawning was reported in ASD, psychopathic traits, and schizophrenia-spectrum disorders, although findings varied across conditions. In ASD, reduced contagious yawning was associated with social attention, gaze allocation, oxytocin-related processes, and broader social-cognitive differences. In psychopathic traits, evidence more consistently implicated affective-interpersonal traits and reduced emotional responsiveness. Evidence for schizophrenia-spectrum disorders was more limited, with proposed mechanisms including impairments in social cognition, ToM, negative symptoms, and possible medication effects. Neuroimaging and electrophysiological findings implicate brain systems involved in social cognition, self-processing, and action observation, although the specific role of the hMNS remains uncertain.DiscussionReduced contagious yawning may reflect altered social-cognitive processing rather than empathy alone, with contributing mechanisms differing across psychiatric conditions. Interpretation is limited by small sample sizes, methodological heterogeneity, and variation in study design. Further well-powered studies are needed to clarify its neurobiological basis and clinical significance.
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You Are More Than Your OCD — Living with OCD

By Stuti Pemmaraju

Stuti Pemmaraju
Stuti Pemmaraju

I cannot pinpoint the exact moment that I first began experiencing symptoms of OCD, but my earliest recollection of a compulsion was during my fifth-grade distance learning class. The pandemic altered life for many people, and for me the biggest change was my obsessive thoughts. As a kid, I was easily scared—I would avoid watching horror movies and had a terrible fear of clowns and ghosts. During that time, those fears became intertwined with my OCD; as my compulsions got more frequent and terrifying, so did my obsessions. I found myself looking at the four corners of my room, turning the lights on and off, counting even or odd numbers more progressively, and looking behind my shoulder whenever I was alone, just to check if someone was watching me. 

A few years later, middle school began, and my OCD was the worst it had ever been. Compulsions became more constant, and arbitrary thoughts quickly turned into obsessions that dictated my every move, making simple tasks seem like life-or-death situations. My OCD was controlling me, and I didn’t know that I had OCD—it never occurred to me that my thoughts were not normal. Looking back now, I recognize many themes my obsessions had taken over the years, including morality, harm, and identity fears. Every day, I somehow pushed through, mentally exhausted. From the outside, I looked like anyone else, but internally I was fighting a battle I thought everyone was expected to endure.

The conversation I had with my parents about my OCD after silently battling it for years was one of the most difficult things I’ve had to do. Mental health isn’t something that is generally acknowledged in South Asian communities, so I didn’t know how my parents would react. Thankfully, they were very understanding and helped me begin ERP therapy, which I have been doing for the past two years. 

Even after coming to terms with this condition and learning techniques to fight it, I still struggled a lot this past year with frequent panic attacks and depressive episodes. It was then that my psychologist and I decided to move forward with medication. 

Having OCD taught me that mental health is not linear and that there will always be bad moments. The most important thing is to keep pushing through, because not trying only makes the struggle worse. Something that helped me come to terms with my OCD was using writing as an outlet for my experiences, and finding interest in mental health advocacy and policy research. 

OCD is something I navigate every day, but it is no longer something I face alone. I learned that while I cannot always control the thoughts my mind brings me, I can control how I respond to them. My message to other teenagers who are struggling is this: OCD is definitely a big part of your story, but it is not the entirety of who you are. You are so much more than your OCD, and remember that it does not define you.

While every experience with OCD is different, far too many kids and families face the same barriers to getting answers and effective treatment. See what new IOCDF findings reveal about pediatric OCD care—and what we can do to change it—in Losing Childhood to America’s OCD Care Crisis.

The post You Are More Than Your OCD — Living with OCD appeared first on International OCD Foundation.

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Towards sustainable funding for Recovery Colleges: lessons from Germany for advancing recovery-oriented psychiatry

Recovery Colleges (RCs) are community-based, co-produced educational initiatives that promote personal recovery, mental health, and well-being through collaborative learning grounded in recovery principles and adult education. Rather than functioning as clinical interventions, Recovery Colleges provide educational environments in which people with lived experience, professionals, relatives, and community members engage in shared learning and knowledge exchange. Despite their growing international implementation, many Recovery Colleges continue to rely on insecure, short-term funding arrangements, limiting their long-term sustainability and integration within recovery-oriented mental health systems. This Perspective examines the rationale for sustainable structural support by synthesizing current conceptual developments, emerging empirical findings, and practice-based experiences, with particular attention to lessons from German-speaking countries. Five evidence-informed arguments are discussed across individual, organizational, system, and community levels: Recovery Colleges may contribute to (1) strengthening self-determination and empowerment, (2) complement recovery-oriented mental health systems through education and peer-supported learning, (3) contribute to reducing stigma and strengthening mental health literacy, (4) foster co-production and recovery-oriented organizational cultures, and (5) support social inclusion and community participation. Although qualitative and mixed-methods studies increasingly suggest beneficial experiences associated with Recovery College participation, the current evidence base remains heterogeneous, and conclusions regarding effectiveness, cost-effectiveness, and broader system-level impacts require further high-quality research. Accordingly, Recovery Colleges should be understood as promising recovery-oriented educational infrastructures rather than established clinical interventions with demonstrated effectiveness. Sustainable structural support may enable Recovery Colleges to maintain their educational philosophy, co-production principles, and community-based orientation while becoming more sustainably embedded within mental health systems. Investment in Recovery Colleges therefore represents an investment in participatory, recovery-oriented infrastructures that recognize lived experience as a valuable source of knowledge and strengthen opportunities for inclusion, empowerment, and collaborative learning.
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Generative AI Adoption in Psychotherapy Practice Among Mental Health Professionals: Multicountry Cross-Sectional Survey

<strong>Background:</strong> Generative AI (GenAI) tools, such as OpenAI’s ChatGPT, Google’s Gemini, and Microsoft Copilot, are being adopted across health care settings. Despite the popularity of GenAI, empirical data on the extent of adoption by mental health clinicians in routine psychotherapy practice are scarce. <strong>Objective:</strong> This study aimed to characterize purposeful GenAI use among mental health professionals providing psychotherapy, including tools used, purposes, perceived workload effects, and the organizational context surrounding use. <strong>Methods:</strong> We conducted a cross-sectional online survey between January 13, 2026, and March 30, 2026. A convenience sample of trained mental health professionals who had provided psychotherapy within the previous 12 months was recruited through professional associations and academic and clinical mailing lists, with snowball dissemination by email. The survey assessed lifetime purposeful GenAI use in psychotherapy practice; tools and purposes of use; perceived work burden reduction; and, for the previous 12 months, employer or professional organization encouragement, prohibition, and participation in AI training. Descriptive statistics were calculated. Univariable logistic regression models were used to examine associations between GenAI use and candidate factors. Variables meeting an entry criterion of <i>P</i>&lt;.10 were entered into a multivariable logistic regression; statistical significance was set at <i>P</i>&lt;.05. <strong>Results:</strong> A total of 766 mental health professionals who provide psychotherapy in 30 countries completed the survey. Of these, 54.6% (n=418, 95% CI 51.0%-58.1%) reported having purposely used at least 1 GenAI tool in clinical psychotherapy practice. ChatGPT was the most frequently used tool (354/418, 84.7%, 95% CI 81.2%-88.2%). The most commonly reported clinical purpose was assisting with treatment planning (175/418, 41.9%, 95% CI 37.1%-46.7%), followed by managing administrative tasks (n=173, 41.4%, 95% CI 36.6%-46.1%) and generating psychoeducational materials for clients (n=166, 39.7%, 95% CI 35.0%-44.4%). Among AI users, 82.8% (346/418, 95% CI 79.1%-86.4%) reported that these tools reduced their overall work burden. Only 18.1% (139/766, 95% CI 15.4%-20.9%) of respondents reported institutional encouragement to use GenAI tools, while 81.1% (n=621, 95% CI 78.3%-83.9%) reported not having received any professional training on AI use. In multivariable logistic regression (α=.05), younger age was associated with GenAI use, while practice setting showed mixed evidence of association. The overall adjusted effect of practice setting did not reach statistical significance (<i>P</i>=.07), although urban practitioners had lower odds of GenAI use than rural practitioners (adjusted odds ratio 0.614, 95% CI 0.388-0.971; <i>P</i>=.04). <strong>Conclusions:</strong> This study extends previous predominantly national and profession-specific research by providing a multicountry, multiprofessional snapshot of reported GenAI use in psychotherapy practice. Use extended beyond administrative tasks into clinically consequential activities, including treatment planning and psychoeducation, while participation in professional AI training remained relatively uncommon. Findings highlight the need for professional bodies, health systems, and training programs to develop practical guidance and competencies for safe, privacy-conscious, and clinically appropriate GenAI use.
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The STORY MINE Digital Recovery Narrative Intervention for Personal Recovery in Mental Health Care: Pilot Randomized Controlled Trial

Background: Hope and confidence support personal recovery by helping individuals with mental illness to rediscover meaning, enhance social connections, and build fulfilling lives. Digital recovery narrative interventions may help stimulate these recovery processes by providing access to hopeful lived-experience stories. Objective: This pilot feasibility randomized controlled trial evaluated the feasibility, acceptability, and exploratory outcome signals of STORY MINE, a novel digital intervention based on hopeful recovery narratives, to support personal recovery among adult service users receiving specialized mental health care at a Dutch psychiatric institute. Methods: Adult service users receiving outpatient specialized mental health care were recruited through clinician referral and self-enrollment. Participants (N=28) were randomized (1:1) to either intervention (STORY MINE access for 12 wk alongside care as usual) or control (care as usual only). Feasibility and acceptability were assessed via platform usage data, evaluation questions embedded within the intervention, and postintervention feedback. Quantitative outcomes were assessed at baseline and postintervention using validated self-report questionnaires on mental health confidence, hope, self-stigma, and personal recovery. Descriptive statistics and exploratory effect sizes with 95% CIs were calculated. Qualitative feedback was analyzed thematically to explore user experiences and perceived impact. Results: All participants (N=28) completed self-report questionnaires, while 13 of 14 participants in the intervention group provided evaluation feedback. Feasibility and acceptability were rated positively (mean 7.7, SD 2.52). Engagement was low, with a mean of 2.77 (SD 1.49) active login days per participant over 12 weeks, with some participants reporting minor technical barriers to use. Participants reported mixed perceived recognition (identification with narratives) and relevance (perceived applicability), but qualitative findings indicated perceived benefits including increased meaning-making, inspiration, and connectedness to recovery narratives. Some reported STORY MINE contributed to their recovery process (eg, narratives provided practical tips and evoked meaning-making and more positive self-evaluation). However, mixed emotional responses were reported; one participant reported narratives triggered distressing memories. Exploratory analyses showed small negative effect sizes for mental health confidence (Cohen =−0.32, 95% CI −1.07 to 0.42), hope (Cohen =−0.45, 95% CI −1.20 to 0.30), and self-stigma (Cohen =−0.33, 95% CI −1.08 to 0.42), and a medium negative effect size for personal recovery (Cohen =−0.53, 95% CI −1.28 to 0.22). These effect estimates decreased after excluding 2 participants experiencing an acute mental health crisis during the study period. Conclusions: STORY MINE appears feasible and acceptable as a supplement to specialized mental health care, although low engagement and mixed emotional responses highlight the need for refinement, particularly to improve user engagement, emotional safety, perceived relevance, and accessibility of the intervention. Findings should be interpreted cautiously given the pilot design and small sample size. A fully powered randomized controlled trial is warranted to evaluate effectiveness.
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Managing School Avoidance in Children With Obsessive-Compulsive Disorder

– Elizabeth Deckler, MD1,2,3, Stephanie Rohrig, PhD2,3, Anthony Puliafico, PhD1,2
– Columbia University Medical Center, NewYork-Presbyterian Hospital, Weill Cornell Medical Center

What is School Avoidance?

School avoidance refers to a young person missing school due to anxiety or another mental health concern. School avoidance is different from truant behavior, when a student misses school without a lawful or valid excuse, and school withdrawal, when a parent holds a child back from school. School avoidance can be very distressing for children and their parents. Frequent school absence puts the child at risk of falling behind both academically and socially. School avoidance is a clinical concern that pediatricians and child and adolescent providers see regularly.  

School avoidance is not a diagnosis, but rather a behavior that is often associated with mental health symptoms. It is typically seen in children with obsessive-compulsive disorder, social anxiety disorder, separation anxiety disorder, generalized anxiety disorder, and panic disorder, among other psychiatric conditions. This is expected because going to school triggers the exact discomfort children with these conditions try very hard to avoid. Children with social anxiety may fear interacting with peers and teachers. Those with separation anxiety fear leaving their parents. Children with generalized anxiety or panic disorders worry that their symptoms will flare up while at school. 

How are OCD and School Avoidance Related?

Many children struggling with obsessive-compulsive disorder experience some degree of school avoidance. Obsessive-compulsive disorder, or OCD, is a mental health condition characterized by frequent intrusive thoughts, images, or urges (obsessions) and repetitive acts or behaviors intended to ease the anxiety caused by the obsessions (compulsions). A 2025 study published in Child Psychiatry & Human Development examined the relationship between OCD and school avoidance. The study, which took place in Sweden, included 385 children with OCD. At their first visit, 22% of the 385 children were attending school only partially or not at all. The study found that after these children were treated for OCD, more than half of them were able to return to school. The high degree of school avoidance in children with OCD, as well as the improvement in school attendance with OCD treatment, highlights the relationship between the two conditions. 

What Does School Avoidance Look Like Within OCD?

School avoidance looks different in every child. Common reasons for school avoidance among children with OCD have included obsessions relating to school performance, compulsions that interfere with the child’s ability to get to school, and contamination of school bathrooms. A prolonged morning ritual, anxiety about using public transportation, and embarrassment over performing compulsions in a public setting are also commonly reported.

The following case example illustrates how school avoidance can develop in a child with OCD.

“Molly is a 15-year-old adolescent in 9th grade at her local high school. She earns good grades, participates in multiple extracurriculars, and plays soccer on her school’s team. She was diagnosed with OCD in fifth grade after her teachers noticed that she felt compelled to open and close her locker exactly four times whenever she used it. She was able to successfully treat her obsessions and compulsions with exposure and response prevention therapy (ERP). However, several years later, her OCD symptoms returned and became more severe. Homework that would usually take two hours to complete now took six. Molly spent hours proofreading her essays for errors until it felt “just right,” checking over her math homework exactly four times, and repeatedly reviewing her online homework portal to confirm that her assignments were uploaded. She knew that the double checking was excessive, but she struggled to stop. Molly also had an intense fear of germs. Using the bathroom at school became a struggle. She noticed that every time she entered the school bathroom, she needed to wash her hands for ten minutes to help her feel safe from the germs. 

After two months of struggling with these compulsions, Molly started avoiding school. At first, she missed about one day every two weeks. But after a few weeks, she was missing several days per week. To Molly, staying home felt easier than facing anxiety-provoking situations at school. Once she started falling behind in her schoolwork as a result of missing class, she found it even more difficult to return. The thought of explaining her absences to teachers and peers, as well as the incomplete assignments piling up, made Molly feel like it would be impossible to return. 

Molly’s experience is surprisingly common. The relationship between obsessive-compulsive disorder and school avoidance is seen clinically and is well established in the literature. However, practical guidance on preventing school avoidance in children with OCD, and helping children who are already avoiding school return, can be hard to find. 

What Can We Do? Recommendations for Parents:

Parents play a significant role in preventing school avoidance in their children. A major aspect of OCD treatment is parental education on limiting accommodation. Parental accommodation refers to changes in routines or behaviors made to reduce a child’s distress. Examples of this include helping the child perform compulsions, planning meals around foods that the child sees as safe, and allowing the child to stay home from school due to their anxiety. If a child with OCD starts avoiding school for any reason, parents should tell their treating clinician as soon as possible.

It may feel easier to allow children to miss school when anxious, but this is counterproductive. Parents need to set limits around missing school. We recommend that parents limit children’s access to screens while they are home from school. Parents can also set clear limits, such as not allowing preferred after-school activities on days when the child does not attend school. Children should view staying home from school as boring.

Parents should also validate their child’s anxiety. OCD is a serious mental health condition that causes significant distress. When children express their worries about school to parents, they should listen, ask follow-up questions, and relay their understanding and care for the child. However, parents should be careful not to reassure the child. Reassurance seeking is a common behavior in OCD, and children with OCD struggle with uncertainty. Seeking reassurance is a form of compulsion. For children to improve their OCD symptoms, they need to practice experiencing uncertainty without reassurance. Examples of reassurance seeking include asking a parent if they believe the school bathroom is clean, having a parent confirm that they performed their rituals correctly, and asking if they think they are going to fail an upcoming quiz.

Exposure and response prevention, a critical part of the treatment for OCD, involves exposing children to places, thoughts, or situations that trigger their obsessive fear. The child then resists the urge to perform a compulsion. This type of therapy is challenging. Over time, this exercise decreases the fear and anxiety associated with the trigger. Children can participate in exposure and response prevention at school. If the child’s obsessive fear involves school performance, attending school and completing assignments exposes them to that trigger. If germs are an obsessive fear, using the bathroom at school is a helpful exercise in ERP. We recommend parents recognize the difficulty of this type of therapy and praise the child for facing triggers at school.

What to Expect From Your Child’s Therapy

The first step in treatment is evaluating current OCD symptoms. Your clinician will do a thorough assessment of your child’s obsessions and compulsions, particularly those related to attending school. If this is the first time your child is receiving treatment for OCD, your clinician will likely recommend a combination of exposure and response prevention therapy and medication, as research has shown this to be the most effective approach. It is also common for school avoidance to emerge in children who have already been undergoing treatment for OCD. In that case, your child’s therapist will assess for changes in the condition that may warrant a different treatment plan. 

The most important part of therapy for school avoidance is school reentry. Your therapist will work with you and your child to create a plan for returning to school. School reentry plans look different for every child. They can range from going back to school full time immediately to seeing the guidance counselor one day, attending one class the next day, and slowly working up to a full school day. Some children need more support returning to school, and in these cases, your therapist may recommend utilizing a higher level of care. Higher levels of care include partial hospital programs and intensive outpatient programs. Partial hospital programs and intensive outpatient programs are forms of mental health treatment where the patient lives at home but attends a treatment program during the day. At these programs, your child will meet daily with providers such as psychiatrists, therapists, and social workers experienced in treating school avoidance.

How to Advocate for Your Child in School

Schools can be invaluable partners in treating your child’s school avoidance. Parents should request that the school designate a “go-to” person for the student to meet with if they are struggling with mental health difficulties at school. This allows the child to see school as a safe place to experience OCD symptoms. Parents should also ask the school to implement the reentry plan the child developed with the therapist. We recommend parents work closely with their child’s teachers to manage missing assignments and prevent falling behind academically. 

The post Managing School Avoidance in Children With Obsessive-Compulsive Disorder appeared first on International OCD Foundation.

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Smartphone addiction, physical activity engagement, and sleep quality in Chinese adolescents: a parallel and serial mediation model

IntroductionExcessive smartphone use has become a major public health concern among adolescents, particularly in China where smartphone use is widespread. Although smartphone addiction is consistently associated with poor sleep quality, the mechanisms underlying this association remain insufficiently understood. This study examined whether physical activity engagement and depressive symptoms operate as parallel and serial mediators linking smartphone addiction to sleep quality in Chinese adolescents.MethodsA cross-sectional survey was conducted among 612 adolescents (Mage = 14.2 years, SD = 1.6; 51.3% female) from four secondary schools in Hubei Province, China. Participants completed the Smartphone Addiction Scale–Short Version, the Physical Activity Questionnaire for Adolescents, the Pittsburgh Sleep Quality Index, and the Depression subscale of the Depression Anxiety Stress Scales-21. Path analysis of observed composite scores with robust maximum likelihood estimation and bias-corrected bootstrapping (5,000 resamples) was used to test the proposed parallel and serial mediation model.ResultsSmartphone addiction was positively associated with poor sleep quality (β = .38, p <.001). Both physical activity (indirect effect = .04, 95% CI [.01,.07]) and depressive symptoms (indirect effect = .14, 95% CI [.09,.19]) significantly mediated this association in parallel. In addition, the serial pathway from smartphone addiction to low physical activity, elevated depressive symptoms, and poor sleep quality was significant (indirect effect = .02, 95% CI [.01,.04]). The mediators collectively accounted for 52.6% of the total effect.DiscussionThese findings suggest that problematic smartphone use is associated with poorer adolescent sleep through behavioral and psychological pathways involving reduced physical activity and elevated depressive symptoms. School-based interventions that promote physical activity while reducing problematic smartphone use may help protect adolescent sleep and mental health. Longitudinal and experimental designs are needed to establish causal direction and inform intervention development.
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AI Tool Helps Link BRSK1 Variants to Neurodevelopmental Disorder

For many families affected by rare genetic conditions, genomic testing does not immediately deliver an answer. Now, researchers have combined artificial intelligence, human genetics, and fruit fly experiments to connect variants in BRSK1 with a complex neurodevelopmental disorder. The findings provide a potential diagnosis for several previously unexplained cases while offering clues about how reduced activity of the gene may disrupt nervous system development.

The study, “Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy,” was led by researchers at Baylor College of Medicine, the Duncan Neurological Research Institute at Texas Children’s Hospital, and the Texome Project, together with collaborating institutions. It was published in the American Journal of Human Genetics.

According to Hugo Bellen, PhD, who is co-lead author of the study, the work began with a child enrolled in the Texome Project, which provides genetic testing to medically underserved people with rare, undiagnosed conditions in Texas. Standard analysis of the child’s and parent’s genomes had not identified a cause. AI-MARRVEL, an artificial intelligence–based tool that analyzes genomic and clinical information to prioritize candidate disease variants, highlighted a rare change in BRSK1. Through GeneMatcher, the researchers identified nine additional affected individuals with rare heterozygous variants in the gene, bringing the group to 10 people from seven unrelated families. The team then modeled three patient-derived variants in Drosophila melanogaster to test their effects in a living organism.

The “affected individuals present with developmental delay and variable phenotypes including anxiety, attention-deficit hyperactivity disorder (ADHD), autism, and seizures,” the authors wrote, adding that the severity and symptoms varied. Symptoms differed even among relatives carrying the same variant, suggesting variable expressivity.

“We studied the fly equivalent of BRSK1, called sff (sugar-free frosting), and found that this gene is active primarily in neurons, mirroring the expression pattern seen in humans,” added Mingxi Deng, PhD, who is first author and a postdoctoral fellow in the Bellen lab. “When the fly gene was disabled, the flies developed difficulties moving, showed increased sensitivity to stressors that can trigger seizure-like behavior, became more vulnerable to heat-induced paralysis and lived shorter lives. These findings indicated that the gene is essential for normal nervous system function.”

Introducing normal human BRSK1 largely corrected the behavioral and neurological defects, whereas three variants (BRSK1p.Ile202Val, BRSK1p.Arg237Cys, and BRSK1p.Thr406Ile) found in affected individuals produced only a partial rescue. The patient variants also failed to normalize neuromuscular junction structure or levels of Futsch, a protein involved in organizing neuronal microtubules. Together, the experiments suggest that the variants partially reduce BRSK1 activity rather than eliminating it.

“Microtubule disruption has been linked to several neurodevelopmental and neurological disorders,” Deng said. “Our findings suggest that reduced BRSK1 function interferes with the cellular machinery needed for healthy brain development and communication between neurons.”

BRSK1 encodes a kinase involved in neuronal polarization, synaptic function, and the internal organization of nerve cells. Reduced activity may therefore interfere with the cellular machinery neurons need to develop and communicate. “This work improves our understanding of the genetic causes of neurodevelopmental disorders and highlights the power of combining AI-driven gene discovery with experimental studies in model organisms to uncover new rare diseases and their underlying biology,” Bellen said.

The diagnosis may help participating families understand the source of their condition and could guide recognition of additional cases. Future studies will be needed to determine why the same variant can produce markedly different symptoms and to define more precisely how altered BRSK1 activity affects the developing brain.

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