Tag: ADHD

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Clinical factors predicting tic persistence into adulthood

BackgroundDespite widespread patient and family interest in long-term outcome prediction at the time of Tourette syndrome (TS) diagnosis, there is limited data on factors associated with disease severity and impairment in adulthood. This study aimed to examine the relationship between childhood and adulthood worst-ever tics and identify predictors of adulthood tic severity and impairment, including the role of significant life events.MethodsIn a cross-sectional design, 258 adult participants with TS completed an online questionnaire assessing tic severity and impairment during their worst-ever tic periods in childhood and adulthood, co-occurring obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) symptoms and clinical and demographic characteristics.ResultsWorst-ever childhood tic severity and impairment were significantly associated with greater worst-ever adulthood tic severity and impairment. Co-occurring OCD was also associated with greater tic severity and impairment in adulthood. Use of tic medication was a significant predictor of greater worst-ever adulthood tic impairment, but not severity. Overall, 153 (59.3%) participants reported experiencing a significant life event at the time of their worst-ever tics in adulthood, and the presence of a significant life event was associated with greater worst-ever adulthood tic impairment. There was a significant effect of negative and neutral life events, but not positive life events, on adult worst-ever tic severity and impairment, compared to those not reporting a significant life event.DiscussionThese findings provide insight into characteristics present either in childhood or in adulthood that may help predict the presence and severity of tic symptoms in adulthood.
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Differences in autism features and adaptive functioning between adolescents with autism spectrum disorder and social communication disorder

IntroductionThis study aimed to characterize adolescents with social communication disorder (SCD) in comparison with those with autism spectrum disorder (ASD) across two dimensions: autism features and adaptive functioning. SCD shares social communication difficulties with ASD, resulting in unclear diagnostic boundaries and raising concerns about its clinical utility given that existing research and resources remain largely ASD-oriented.MethodsData from 76 adolescents with ASD and 44 with SCD (ages 10–18 years) were analyzed. Lifetime and current autism features were assessed using the Autism Diagnostic Interview–Revised (ADI-R) and Social Responsiveness Scale, Second Edition (SRS-2), respectively, and adaptive functioning using the Vineland Adaptive Behavior Scales, Second Edition. Propensity score matching was performed using age and Full-Scale Intelligence Quotient, and group differences were compared before and after matching. Exploratory interaction analyses additionally examined potential moderators of group differences.ResultsAfter matching, adolescents with SCD showed less severe lifetime autism features across the core ADI-R domains, with large effect sizes (ds = .98–1.34, all p <.001). Current autism features showed smaller group differences, which remained significant across all SRS-2 subscales except Social Motivation (ds = .46–.68, p = .004–.046). Adolescents with SCD showed better adaptive functioning than those with ASD, although group differences in Communication (p = .085) and Socialization (p = .144) were no longer statistically significant after matching. Psychiatric comorbidity moderated group differences in Communication, Socialization, and overall adaptive functioning, while attention-deficit/hyperactivity disorder showed a similar but less robust pattern for Communication, which did not remain significant after correction.DiscussionOverall, accounting for age and intellectual ability, the distinction between ASD and SCD remained evident at the symptom level, whereas functional differences were partly influenced by these factors. These findings suggest that diagnostic classification alone may not fully capture the functional needs of adolescents with ASD and SCD, highlighting the importance of a multidimensional approach that considers symptom profiles, adaptive functioning, developmental and intellectual factors, and psychiatric comorbidity.
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Self-medication of attention-deficit/hyperactivity disorder symptoms with psychoactive substances in adults: a scoping review of how symptom-relief motives are framed and operationalised across substances

IntroductionAdults with attention-deficit/hyperactivity disorder (ADHD) use tobacco, cannabis, alcohol, cocaine and non-prescribed stimulants far more than the general population. The self-medication hypothesis holds that people with ADHD, including those undiagnosed, use substances to relieve core symptoms rather than for recreation or shared vulnerability to addiction, and is widely invoked to reframe illicit substance use as undiagnosed ADHD. How this claim is framed and tested has not been mapped across substances.ObjectiveTo map the literature invoking self-medication of ADHD symptoms in adults, substance by substance, and to characterise how each source frames the concept relative to misuse, recreational or shared-liability accounts.Eligibility criteriaEmpirical studies, reviews, commentaries, preprints and trial-register records on self-medication of ADHD symptoms with a psychoactive substance in adults or predominantly adult samples; English; inception to 21 July 2026.Information sourcesPubMed, OpenAlex and Consensus, with ClinicalTrials.gov and a preprint search. Searches were conditioned on self-medication and motive terminology, so the corpus maps the self-medication literature and does not sample the misuse or shared-liability literature independently.Charting methodsSources were charted for substance, design, population, operationalisation of self-medication, and a framing category (self-medication-framed; mixed; misuse- or shared-liability-framed; neutral/descriptive). A descriptive map was built by substance. No critical appraisal or evidence-strength ranking was made.ResultsOf 937 records identified and 820 screened, 109 sources (1986–2026) met the criteria. Coverage was heaviest for non-prescribed stimulants (n=35), cannabis (n=29), nicotine (n=25) and alcohol (n=17); no eligible ketamine source was identified. Self-medication framing was most prevalent, and uniquely accompanied by experimental data, for nicotine; prevalent but observational for cannabis; coexisted with academic and recreational motives for stimulants; and alcohol was mostly framed as comorbidity or shared liability. Self-medication was overwhelmingly inferred from association or motive report rather than tested against symptom change.ConclusionsSelf-medication framing is substance-specific in prevalence and accompanying evidence. Because the search was conditioned on self-medication terminology, the map describes how the literature frames the claim and does not adjudicate between competing accounts. Applying self-medication as a blanket explanation for substance use in people with ADHD symptoms is not warranted by how the claim has been tested.
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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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STAT+: Pharmalittle: We’re reading about Novo plans to expand its pipeline, early Alkermes ADHD data, and more

Hello there and welcome to a new week. STAT reporter Andrew Joseph here in London filling in for Mr. Pharmalot for the day. Before we get to the headlines, an extra dose of encouragement to check out all the great pieces that STAT has to offer today, from Reed Jobs opining on the NIH budget to our new trust-in-science reporter Nick Florko outlining his own experience grappling with, as he puts it, “how frustrating it is to realize that modern medicine does not have all the answers.” Now to those headlines. … 

Novo Nordisk is seeking to assure investors that it can regain its momentum in the coming years, outlining plans to expand its pipeline and find new products that it could sell more like consumer goods than traditional medicines, building off what’s occurring with its obesity treatments, STAT shares. At the company’s capital markets day in London, CEO Mike Doustdar said Novo would launch at least five multi-blockbusters by 2030 and deliver revenue growth on par with other major pharma firms. He also presented a strategy that involved investing more in disease areas outside diabetes and obesity and said the company “will be more active within business development,” an acknowledgment of investors’ concerns that Novo was too reliant on its landmark GLP-1 drugs and needed to develop other products.

Drugs called orexin agonists have been hailed for their ability to treat rare sleep disorders, but with new data, Alkermes is showing for the first time that the new class of therapies may benefit people with ADHD, STAT writes. In a randomized Phase 1 study, the company’s new drug, called ALKS 7290, was well tolerated and showed a signal of efficacy. Participants in the study started with a median score of 39 on a diagnostic known as the Adult ADHD Investigator Symptom Rating Scale, indicating that they had moderate to severe symptoms. After two weeks, those taking a high dose of 50 milligrams of ALKS 7290 experienced a 19-point reduction on the scale, indicating that their symptoms had become mild.

Continue to STAT+ to read the full story…