Tag: Anxiety

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We Can Do Hard Things – A Mother and Son’s OCD Journey

By Kjersti and Jayden Helberg

Jayden’s Story

Jayden and Kjersti Helberg
Jayden and Kjersti Helberg

It has been almost 7 years since I was diagnosed with OCD. When I was 7 years old I started having a lot of fears about getting the stomach flu. Because of this, my stomach would hurt at night. I would have a hard time falling asleep for fear of waking up with throw up all around me. Over time, because of the worry, my stomach also hurt all day long. This made it so I couldn’t focus or have fun a lot of the time, with the constant stomachache and worry. My parents knew my stomach was always hurting, and I remember my mom taking me to a few doctors and doing tests to try to find out why. I was also avoiding my siblings because I thought they would get me sick too. I started asking questions all the time about that and anything else that worried me, it felt like hundreds of questions every day. I didn’t know my parents were doing a lot of things behind the scenes to try to find out what was going on. 

One day, my parents sat down with me and told me they thought they knew why I was having so many worries. They showed me a video about what OCD was to help me understand. We compiled a list together of all the things I was worried about. The list was long and included: the stomach flu, poison, doing things wrong, being a bad person etc. I was relieved that they thought we knew why I was worrying so much. 

So, my parents found me a therapist. Her name was Dr. Michelle Witkin. She taught me about OCD. She taught me that I could get better. She showed me strategies to fight my OCD, like: delaying compulsions or doing the opposite. Then she taught me how to do exposure therapy. After working on some of my less intense fears, we tackled the stomach flu. As I did exposure therapy, I learned that I could be uncomfortable, ignore the urge to do my compulsions, and still do the things I wanted, like sleeping and playing with my siblings! The biggest exposure we did was exposing me to fake throw-up that I thought was real. We had it all around the house so I would see it all day long. I hated it at first because I thought it would make me sick, but over time I got more comfortable with it being around though it was (and still is) a bit gross. My final exposure was sticking my hand in a bowl of the throw up and getting my cars out. I remember that was really hard and I was scared but I also remember that I was so proud of myself! I wasn’t afraid anymore!  

Being a kid with OCD was hard. Before I was diagnosed, I was scared a lot because I had so many intrusive thoughts throughout the day. Now, 7 years later, I am a teenager with OCD and fortunately it isn’t a very big part of my life. It is mostly little things that come up and when they do, I can just use the tools I have learned right away so I don’t get stuck. It is easy to recognize my OCD now. I have also learned that I can do mostly anything now and not a lot stops me! If I could do all those hard things to recover from OCD, then I can do anything! My favorite phrase my therapist taught me was, “You can’t be brave without being scared first.” I know I can get past hard things. I’ve learned I can “do it scared.” I want to help people know what OCD really is, and that getting help as a kid changed my life for the better. I hope that everyone who reads this and is fighting OCD will know that you can do it and should never give up even when it is hard.

 

Kjersti’s Story

My son was 7 years old. Every day and night he had stomach pain. He would stay up for hours and could not fall asleep because his stomach was hurting so badly. We went to the pediatrician, we saw a gastroenterologist, we paid for test after test. They all came back normal. Nothing could explain his stomach pain. The pain continued and we continued to be at a loss. Then, he started asking us if he was going to throw up, asking if something was poison, asking if a song he had in his head was bad, asking if what he said was okay, if what he thought was okay, if what he did was okay, asking us if he was bad. Again, and again the questions came and nothing I said seemed to give him any lasting comfort. He was avoiding his siblings at any sign of stomach upset, for fear they would get him sick. Our carefree little boy was suddenly filled with endless worry. Long days of reassurance seeking (a term we would soon learn) were followed by sleepless nights.

Our pediatrician suggested he should see someone for anxiety. I called a local therapist and told him what was happening. The therapist said to me something I never thought I would hear, “I think your son has OCD. You should really try to find an OCD specialist to help you.”  I didn’t understand. Isn’t OCD a cleanliness thing? Hand washing? Organizing stuff? He doesn’t do any of that. So, we researched it and learned we had been very wrong about what we thought OCD was. It was so much more than we realized and sounded like just what our son was struggling with. We signed up for Natasha Daniels course to learn all that we could. We learned words that week like reassurance seeking, accommodation, compulsion. We learned that OCD has many subtypes. We learned that there was hope for recovery. Hope for our son to not be stuck and held captive by his worries anymore. Finally we had hope. 

We sat down with our son to tell him we thought he had OCD. He seemed to understand and was willing to start trying some things we had learned. Once we started seeing a trained OCD therapist (Michelle Witkin) that was when everything changed. She trained us in how to reduce family accommodation and respond to his OCD in a different way. She helped us learn the language to be loving but not reassuring. She taught him how to reduce compulsions and fight back by using ERP and other strategies. She gave us a toolbox that we still use today and will continue to use throughout our lives. OCD Treatment was invaluable and gave our son his childhood back.  It still breaks my heart that it took months to find out what my son was going through. Months that could have been used for the correct treatment, if only our pediatrician knew what OCD was. If only WE knew what OCD was. It is not lost on me that we were the lucky ones because it only took months. Unfortunately, for so many, it can take years upon years of incorrect treatment before receiving a diagnosis. For some, they never receive it.  

It is my hope that every child who is suffering from OCD can find access to the correct treatment. That they can learn to apply the tools to fight OCD and reclaim their childhoods, and in turn their lives. To live the life they want on their own terms and not on the terms of their OCD. 

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 We Can Do Hard Things – A Mother and Son’s OCD Journey appeared first on International OCD Foundation.

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Psychological and Contextual Factors of AI Acceptance Among Informal Caregivers of People Living With Dementia: Cross-Sectional Pilot Study

Background: Informal caregivers make up a large share of the care provided to people living with dementia, and experience an elevated risk for anxiety, depression, and caregiving burden. Technology-based interventions, such as mobile apps, aim to support informal caregivers by providing information, training, and mental or social support. Considering the diverse nature of the caregiver experience, AI is being incorporated into such interventions to create more tailored and specific support; however, AI hesitancy may serve as a significant barrier to usage. Objective: The study aimed to preliminarily assess the levels of AI acceptance in adult informal caregivers of people living with dementia, and generate hypotheses regarding the psychological and contextual factors of AI acceptance. Methods: Adult, unpaid caregivers were recruited through social media and community partners. A cross-sectional, web-based survey was administered through Qualtrics (Qualtrics, LLC) to evaluate AI acceptance and psychological flexibility (PF). AI acceptance was measured using the Attitude Towards Artificial Intelligence (ATTARI-12) scale, while PF was measured using the Personalized Psychological Flexibility Index (PPFI). Social needs were assessed by the ’Accountable Health Communities Health Related Social Needs (AHC-HRSN) tool (Centers for Medicare and Medicaid Services). Descriptive, correlational, and regression analyses were performed to examine the associations between these factors and AI acceptance. Results: Overall, 31 informal caregivers of people living with dementia completed the survey. With an average age of 60 (SD 10.6) years old, the majority of caregivers were women (29/31, 94%), Caucasian (25/31, 81%), highly educated (24/31, 77% completed some form of higher education), and currently serving in a caregiver role (21/31, 68%). Mean PPFI and ATTARI-12 scores were moderate (66.4, SD 10.3, and 3.01, SD 0.55, respectively), demonstrating a neutral attitude regarding AI use. In bivariate analyses, ATTARI-12 differed by the caregiver-perceived illness severity (<.001). Linear regression suggested trends that the PPFI acceptance subscale (β=.05, 95% CI 0.002‐0.097; =.04) was associated with ATTARI-12 scores. Conclusions: This study suggests that caregivers’ acceptance of such technology may vary according to their care recipient’s disease severity and the acceptance subscale of the PPFI. Additionally, the study provides justification for using the ATTARI-12 and PPFI scales to assess AI acceptance and PF in informal caregivers of people living with dementia, respectively. Future research should explore these factors across a larger and more diversified cohort to further generalize and confirm our findings.
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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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Kratom and 7-OH should be regulated, experts agree. They’re split on how

Kratom leaf products, often used to ease chronic pain, anxiety, or withdrawal from opioids, have been sold in the U.S. for decades, largely skirting any regulatory restrictions despite a known risk for physical dependence. But increasingly, Americans are turning to newer, more potent products made with a semi-synthetic kratom derivative, 7-hydroxymitragynine, or 7-OH. 

Clinicians and recovery advocates warn that highly-concentrated 7-OH could be even more addictive than kratom, though research is scarce. Most people agree that some sort of guardrails need to be put into place. They disagree, however, on what those regulations should be.

Read the rest…

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More Than a “Bad Habit”: Living With a BFRB

– By the BFRB Special Interest Group

Introduction

Body-focused repetitive behaviors (BFRBs), including hair pulling (trichotillomania), skin picking (dermatillomania), nail biting, lip/cheek biting, and more, remain among the most misunderstood mental health experiences by both the general public and healthcare providers alike. To capture the full reality of living with these complex behaviors, members of the IOCDF’s BFRB Special Interest Group (SIG) shared their lived experiences, insights, and perspectives. We explored what BFRBs really feel like from the inside out and how our collective understanding of these behaviors is shifting away from outdated stigma and toward true nervous system awareness.

What’s it like to have a BFRB?

When the BFRB SIG was asked what it’s like to have a BFRB, the response was sobering. Some of the terms used included confusing, embarrassing, frustrating, helpless, and exhausting. They spoke of fatigue from constant internal and external assessment, and how resisting the behavior can feel like denying yourself air. Some mentioned that it felt like a separate entity, urging them toward action against their better judgment, often leaving them feeling weak, powerless, and critical of themselves for not being able to stop.

But there’s another side to BFRBs: one that acknowledges the self-soothing aspect. People also describe the behavior as enjoyable, relaxing, hypnotic, and even pleasurable. Some describe a sense of entitlement to it, feeling they “deserve” this escape after a challenging day. Others celebrate the satisfaction and relief that comes with pulling the perfect hair, popping a prime pimple, or “fixing” some other nagging problem. 

This intrinsic gratification is what sets BFRBs apart from OCD. In OCD, the compulsive behavior is unwanted and driven purely by a desire to relieve anxiety. With BFRBs, the behavior is functional; the act itself brings genuine sensory pleasure or soothing. A helpful test to demonstrate this distinction is to remove the consequences: if pulling or picking caused zero physical damage, shame, or embarrassment, most people with BFRBs wouldn’t care to stop or would actually feel free to engage in the behavior more often, because the behavior feels good in the moment. In other words: those with OCD dislike the behavior and crave the result, and those with BFRBs crave the behavior and dislike the result. 

The most profound burden, however, is the heavy shame and isolation that comes from repeatedly engaging in a behavior that you (and the people around you) don’t understand. Those with BFRBs spend a significant amount of time trying to hide or shrink so they’re not “discovered” and then judged by others. Simple activities such as getting ready in the morning, going out in wind or rain, swimming, or riding roller coasters can risk extreme embarrassment. Some with BFRBs make painstaking efforts to hide it from their spouse or partner, or avoid dating altogether.

The pain is real and the solution is not simple. The urges and behaviors are complex, deeply rooted, and highly individualized. Those with BFRBs are intelligent, creative, and deeply caring people, navigating sensitive nervous systems or unique sensory needs. They are complicated, but certainly not broken.

Understanding and Interpreting BFRBs

How should we interpret BFRBs, and why do those with BFRBs repeatedly engage in this behavior that they desperately want to stop? Our understanding of the forces driving BFRBs is continually evolving, varying widely depending on who you ask.

Many view their BFRB as a chronic behavioral or willpower problem, leaving them exhausted from constantly battling their urges. Others experience a love-hate relationship, acknowledging the physical damage and social toll while benefiting from the sensory soothing, stimulation, or satisfaction it provides, what one person called “a misled offering to solve a heightened or lowered state.”

There are others who have come to view the behavior as an internal alarm system. Rather than an enemy to fight, they interpret the urges as a message from their dysregulated nervous system alerting them to an unmet need, and the behavior as “an attempt to return the nervous system to baseline.” This interpretation allows them to relate to their behavior with less opposition, and tends to support long-term recovery. As one person put it, “Your BFRB is trying to tell you something! Are you ready to listen?”

People with BFRBs may move between these perspectives over time. Because no two profiles are identical, BFRBs require an individualized lens. Equally important is dispelling common misconceptions: BFRBs are not simply bad habits, self-harm, trauma responses, or the result of poor parenting. They are complex, deeply rooted behaviors centered on nervous system regulation and meeting unmet needs.

Conclusion

If there is one truth to hold onto, it is this: you are not broken, lazy, or lacking willpower. BFRBs are complex responses to a nervous system doing its best to regulate in a noisy world. Living with a BFRB takes an immense amount of daily resilience and recognizing that the behavior is an internal attempt to self-soothe (rather than a character flaw) opens up space for genuine grace and self-compassion. You are so much more than the urges you fight and help is available when you’re ready to take the next step in your BFRB journey.

The post More Than a “Bad Habit”: Living With a BFRB appeared first on International OCD Foundation.

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Beyond illness severity: transdiagnostic cognitive vulnerabilities as independent predictors of psychological distress in parents of children with rare genetic disorders

IntroductionParents of children with rare genetic disorders are at increased risk of depression, anxiety, and stress symptoms. While previous research has primarily focused on illness-related factors, less is known about the contribution of transdiagnostic cognitive vulnerabilities to parental psychological distress.AimThis study examined whether intolerance of uncertainty, distress tolerance, and tendency to worry predict parental depression, anxiety, and stress symptoms beyond the severity of the child’s health status.MethodsThe study included 184 parents (92 mother–father dyads) of children with rare genetic disorders and 94 parents of healthy children (14 mother–father dyads and 66 unpaired parents). Measures assessed child health status severity, intolerance of uncertainty, distress tolerance, tendency to worry, and symptoms of depression, anxiety, and stress.ResultsParents of children with rare genetic disorders, particularly mothers, reported higher levels of depression, anxiety, and stress symptoms compared with parents of healthy children. Greater severity of the child’s health condition was associated with higher levels of psychological distress. Lower distress tolerance and greater tendency to worry independently predicted depression, anxiety, and stress symptoms beyond the severity of the child’s health status.ConclusionTransdiagnostic cognitive vulnerabilities, particularly lower distress tolerance and greater tendency to worry, together with female gender, were independently risk factors for parental psychological distress beyond the severity of the child’s health status severity. These findings suggest that preventive interventions and counseling programs for parents of children with rare genetic disorders should address not only illness-related burden but also modifiable cognitive vulnerabilities.
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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.

The post AI Tool Helps Link <i>BRSK1</i> Variants to Neurodevelopmental Disorder appeared first on GEN – Genetic Engineering and Biotechnology News.

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Adolescent non-suicidal self-injury scale – short form: revision and evaluation of its reliability and validity

ObjectiveNon-suicidal self-injury (NSSI) is a clinically significant concern among adolescents, and its accurate yet efficient assessment is essential for research, early identification, and intervention. Existing Chinese instruments—most notably the 19-item Adolescent Self-Harm Questionnaire (ASHS)—are relatively lengthy and ill-suited to rapid, large-scale screening. The present study had two aims: (a) to develop a short form of the ASHS, the Adolescent Non-Suicidal Self-Injury Scale–Short Form (ANSSI-SF), by integrating classical test theory (CTT) item analysis with genetic algorithm (GA) cross-validation, and (b) to evaluate its reliability, validity, and screening utility relative to the parent scale.MethodsUsing a convenience sample of 1,090 primary and secondary school students, seven items—one for each of seven behavioral categories derived from a functional–typological framework of self-harm—were selected on the basis of CTT item statistics and GA cross-validation. The scale was evaluated through item analysis, internal-consistency and split-half reliability, exploratory and confirmatory factor analysis (EFA/CFA), correlations with theoretically related constructs, known-groups comparisons (gender; smartphone addiction), and consistency and screening-accuracy analyses against the full 19-item ASHS.ResultsIt indicated that all items demonstrated strong correlations with the total score, and both internal consistency and split-half reliability reached satisfactory levels.A unidimensional factor structure also exhibited good model fit. Additionally, scale scores were significantly positively correlated with related psychological indicators such as depression, anxiety, and sleep problems, and effectively differentiated differences in self-injurious behavior across gender and smartphone addiction groups.GA cross-validation confirmed that the selected items balanced parsimony with full coverage of all seven behavioral categories.DiscussionThese findings indicate that the ANSSI-SF is a brief, reliable, and valid instrument that preserves the content breadth of the parent ASHS while substantially reducing administration burden. It is well suited to rapid, large-scale screening and early identification of at-risk adolescents, facilitating timely referral and prevention. Limitations include convenience sampling from a single region and the absence of test–retest reliability; future research should validate the scale in clinical and diverse cultural samples and examine its predictive validity.
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The chain-mediating effect of societal pressure on appearance and body image on fear of negative evaluation and social anxiety in women with polycystic ovary syndrome: a cross-lagged panel analysis

Objective(Prospective Longitudinal Observational Study) This study aimed to examine the longitudinal chain mediating roles of physical appearance social pressure and body image in the relationship between fear of negative evaluation (FNE) and social anxiety among women with polycystic ovary syndrome (PCOS), and to clarify the temporal sequencing among these variables.MethodsConvenience sampling was used to recruit 264 women with PCOS. Participants completed the Sociocultural Attitudes Towards Appearance Questionnaire-4 Revised (SATAQ-4R), Body Image States Scale (BISS), Brief Fear of Negative Evaluation Scale (BFNE), and Social Anxiety Scale (SAS) at baseline (T0), 3 months (T1), and 6 months (T2), yielding 242 valid cases. Data were analyzed using measurement invariance testing, cross-lagged panel analysis (CLPA), and bootstrapping.ResultsFull measurement invariance was established across the three timepoints (ΔCFI ≤0.01, ΔTLI ≤0.01). The final CLPA model demonstrated excellent fit (CFI = 0.988, TLI = 0.959, RMSEA = 0.023, 90% CI: 0.021–0.026). T0 FNE positively predicted T1 appearance social pressure (β = 0.25, P <0.001) and T1 SA (β = 0.23, P <0.001), and negatively predicted T1 body image (β = −0.19, P <0.001). T1 appearance social pressure positively predicted T2 SA (β = 0.22, P <0.001). T1 body image negatively predicted T2 SA (β = −0.18, P <0.01). T1 SA positively predicted T2 FNE (β = 0.13, P <0.001). Bootstrap analyses revealed significant indirect effects via T1 appearance social pressure (β = 0.055, 95% CI: 0.028–0.082) and T1 body image (β = 0.034, 95% CI: 0.015–0.053), as well as a significant chain mediation effect (β = 0.018, 95% CI: 0.007–0.029).ConclusionLongitudinal evidence supports a chain mediating pathway wherein elevated fear of negative evaluation at baseline is prospectively associated with subsequent increases in appearance social pressure and declines in body image, which in turn correspond to higher levels of social anxiety in women with PCOS. Findings support the potential utility of early psychological screening and targeted interventions addressing maladaptive cognitions and body image disturbances, although causal efficacy requires validation via randomized controlled trials.