IntroductionDetecting brain lesions using Artificial Intelligence methods has been a focus of prior research, with numerous datasets supporting this task to improve clinical results. However, evaluation metrics and reported results often summarise overall performance without considering variations in lesion size. In clinical practice, the detection of small tumours is particularly critical for early diagnosis and treatment effectiveness.MethodsThis study evaluates the performance of Artificial Intelligence models on established datasets with a specific focus on lesion identification and lesion size. We introduce a novel Deep Learning model tailored to detect small brain tumours in Magnetic Resonance Imaging, integrating a clinically defined “small tumour” concept into both the training and evaluation processes.ResultsThe proposed approach demonstrates robust performance, achieving loss values ranging from 1.5 to 11.1 and Dice Scores between 96.3% and 98.1% across multiple datasets.DiscussionThe main contribution of this work is the incorporation of clinically meaningful lesion-size information into model development and assessment. These findings suggest that explicitly considering small tumours can improve the clinical relevance of Artificial Intelligence systems for brain lesion detection and support earlier diagnosis and more effective treatment planning.
Cereblon-related mild intellectual disability disrupts response inhibition and uniformity of group–individual strategies
Temporal processing, including duration discrimination, is essential for survival and communication across species. Intellectual disability (ID), which can arise from diverse causes, including mutation in Cereblon (CRBN) gene, impairs duration discrimination. CRBN-related ID is associated with abnormal cognitive behaviors and may disrupt both perceptual and behavioral processes involved in duration discrimination. However, cross-species behavioral strategies, their variation with ID, and the behavioral indices underlying these strategies remain unclear. Here, humans and wild-type (WT) mice with typical intelligence and CRBN knockout (KO) mice with ID, all females across species, performed an auditory duration discrimination task involving 10-s and 2-s cues. All groups successfully distinguished the 10-s and 2-s cues, but their latency-based behavioral strategies diverged. In humans and WT mice, reaction time and latency for both stimuli clustered between 2 and 5 s, whereas in KO mice, they varied depending on the stimulus duration. WT mice and humans consistently delayed their responses by approximately 2 s relative to the 2-s cue length, reflecting response inhibition and alignment between group-level and individual-level responses. In contrast, KO mice exhibited more variable response patterns, consistent with impulsivity and misalignment between group-level and individual-level responses. These findings suggest that CRBN-related ID preserves duration discrimination while altering the behavioral response pattern associated with typical intelligence.
Diagnostic redirection in dementia-first spinocerebellar ataxia type 17: a family-based case report and focused literature review
BackgroundSpinocerebellar ataxia type 17 (SCA17) is an autosomal dominant repeat-expansion disorder with marked phenotypic heterogeneity. Cognitive and neuropsychiatric symptoms may dominate early recognition and initially suggest a primary dementia syndrome. We aimed to illustrate diagnostic redirection in dementia-first SCA17 through integrated clinical, imaging, familial, and molecular assessment.Case presentationWe describe the clinical course, neurological findings, cognitive and functional assessments, ancillary investigations, neuroimaging, pedigree information, and molecular genetic findings of a proband with SCA17 and one tested at-risk adult relative. To contextualize the family, we conducted a focused literature review of genetically confirmed SCA17 case and family reports identified through PubMed, Web of Science, Embase, China National Knowledge Infrastructure (CNKI), and Wanfang up to April 16, 2026.FindingsRepeat-expansion testing established SCA17 in a proband who had initially presented through a dementia-first clinical pathway, with TATA-box binding protein (TBP) alleles of 37/51 repeats. Targeted presymptomatic cascade testing identified the same expanded 51-repeat allele in her asymptomatic adult daughter. Review of 25 published studies showed broad variation in age at onset, TBP repeat size, family context, presenting syndrome, and cumulative phenotype, including cognition-dominant, behavior-dominant, Huntington disease-like, parkinsonian, dystonic, choreic, seizure-associated, and atypical neuroimaging presentations.ConclusionThe present family illustrates a dementia-first route to SCA17 recognition, in which the initial syndrome-based dementia interpretation remained etiologically provisional as cerebellar signs, cerebellar-predominant atrophy, autosomal-dominant family context, and TBP expansion were integrated. This case-based perspective is intended to support etiological reconsideration in selected dementia-first presentations, rather than to serve as validated clinical criteria.
Gerstmann-Sträussler-Scheinker syndrome with unexpected concomitant GRN variant: case report
The objective is to report a patient with Gerstmann-Sträussler-Scheinker syndrome caused by a pathogenic PRNP P102L variant harboring an unexpected concomitant pathogenic GRN variant p.R110X and to discuss the potential contribution of combined genetic pathology to the clinical and neuroimaging phenotype confirmed by autopsy. Moreover, we discuss the potential role of TMEM106B as an important modifier of the protein TDP-43 neuropathology associated with the GRN mutation in this case. The patient underwent detailed clinical assessment, serial neuropsychological evaluation, brain MRI, cerebrospinal fluid analysis, whole-exome sequencing, and next generation sequencing. A postmortem neuropathologic examination was performed to confirm the diagnosis. The patient presented slowly progressive paresthesia, cerebellar ataxia, dysarthria, and later cognitive and behavioral changes. Genetic testing revealed a heterozygous PRNP P102L variant and an unpenetrated GRN p.R110X variant; a protective TMEM106B polymorphism associated with TDP-43 pathology was also identified. Neuroimaging demonstrated progressive cerebellar and parietal atrophy with asymmetric left frontal opercular and insular involvement. The clinical course was dominated by a cerebellar GSS phenotype. The patient died 4 years after symptom onset. Neuropathology confirmed GSS, nevertheless without detectable TDP-43-associated neuropathology. This case highlights the diagnostic complexity of rare neurodegenerative disorders and illustrates that pathogenic variants may not influence phenotypic expression. Comprehensive genetic testing should be considered in atypical cases, as certain genetic variants may contribute to phenotypic variability and represent potential modifiers of phenotypic expression.
Nucleus accumbens DRD2 receptor agonism attenuates escape behavior
Animals learn to approach and escape stimuli in their environment, in part through the representation of rewarding or aversive outcomes in the nucleus accumbens (NAc). The regulation of reward motivation in the NAc by dopamine signaling at DRD1 and DRD2 receptors has been the subject of extensive study. However, the process by which aversive stimuli are signaled within this system to promote motivated escape behavior is less well characterized. Conventional wisdom posits that rewarding and aversive stimuli ultimately affect DRD1 or DRD2-receptor expressing medium spiny neurons (MSNs) in an opposing manner to differentially modulate motivated behavior. However, recent studies have challenged this view and demonstrate the need to better characterize the processes that mediate aversion learning. To determine if DRD2 dopamine receptor activation disrupts escape behavior, 21 male and female Sprague Dawley rats were treated with an intra-NAc core DRD2 receptor agonist, quinpirole, while escape behavior was negatively reinforced by the termination of aversive white noise. This treatment attenuated escape, a result that is consistent with the view that aversion-induced reductions in dopamine promote escape behavior through decreased DRD2 receptor signaling in the NAc, and potential disinhibition of an aversion-sensitive striatal output circuit.
Attention-deficit/hyperactivity disorder and chronic pain: a scoping review of epidemiology, clinical phenotypes, mechanisms, and treatment
IntroductionEmerging evidence suggests a potential association between attention-deficit/hyperactivity disorder (ADHD) and chronic pain; however, extant findings are dispersed across disciplines and have not yet been comprehensively synthesized. This scoping review aimed to systematically map the epidemiological evidence, clinical phenotypes, proposed neurobiological mechanisms, and reported therapeutic interventions related to comorbid ADHD and chronic pain.MethodsA comprehensive literature search was conducted in PubMed, PsycINFO, and the Cochrane Library from database inception to December 28, 2025. Human studies examining the association between ADHD (diagnosed or symptom-defined) and chronic or recurrent pain were also included. Fifty studies met the eligibility criteria, including observational studies (cross-sectional and longitudinal), case reports and series, and one interventional study.ResultsEpidemiological studies have consistently reported significant associations between ADHD symptoms or diagnoses and chronic pain in both the general population and clinical samples. Higher ADHD symptom burden was associated with greater pain severity and pain-related functional impairment. Comorbidity was observed not only in widespread pain syndromes, such as fibromyalgia, but also in site-specific conditions, including chronic low back pain, orofacial pain, and migraine. Proposed mechanisms involve dopaminergic and noradrenergic dysfunction affecting motor regulation, sensory processing, and descending pain modulation systems. Several case-based reports have described improvements in pain outcomes after ADHD-targeted pharmacotherapy. However, controlled trials remain scarce.DiscussionCurrent evidence suggests that ADHD traits may be relevant in a subset of individuals with chronic pain, particularly those with treatment-resistant presentations. Although causality and treatment efficacy remain unconfirmed, consideration of neurodevelopmental characteristics may enhance clinical assessments and inform future research on individualized mechanism-based treatment strategies.
Family caregivers’ involvement in home-based recovery for patients with schizophrenia: a qualitative study in Beijing, China
BackgroundFamily caregivers play critical roles in supporting the home-based recovery of patients with schizophrenia, but they often encounter substantial challenges and receive insufficient systemic support. Understanding caregivers’ involvement in home-based recovery is essential for aligning community mental health services with families’ capacities and needs. This study aimed to explore family caregivers’ involvement and adaptive processes in supporting home-based recovery of patients with schizophrenia in China.MethodsA qualitative study using interpretative phenomenological analysis was conducted through semi-structured interviews. Family caregivers were purposively recruited from four community health service centers (CHSCs) across urban and rural areas of Beijing. All interviews were audio-recorded, transcribed verbatim, anonymized, and analyzed iteratively to identify themes and subthemes.ResultsA total of 20 family caregivers were recruited, including 11 from two urban districts and 9 from a rural district in Beijing. Five themes were identified: Caregivers’ redefinition of recovery as stability rather than cure; Routine recovery involvement in medication management and symptom monitoring; Experienced tensions between the patient’s independence and relapse prevention; Bearing family obligation and personal strain in sustained caregiving involvement; and Uncertainty in sustaining caregiving and the patients’ future stability. Caregivers reported persistent challenges in supporting patients’ independent living, participation in family activities, communication, and social interaction.ConclusionFamily caregivers gradually develop their capacity to support home-based recovery, but continue to encounter complex challenges while receiving limited support from CHSCs. Strengthening recovery-oriented family support within community mental health services, particularly through accessible psychoeducation and rehabilitation guidance, may enhance caregivers’ capacity to support patients’ independence and social participation, thereby promoting sustainable home-based care and long-term functional recovery.
Case Report: A novel de novo heterozygous truncating mutation in MED12L identified in a Chinese autistic boy
BackgroundAutism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder. A previous study by Nizon et al. indicated that some children with intellectual disability (ID) carrying de novo MED12L mutations exhibited mild to moderate autistic features. However, the relationship between MED12L and ASD remains unclear.Case presentationHere we reported a male child with severe autistic features carrying a novel de novo heterozygous truncating mutation of MED12L (NM_053002.5:c.586C>T, p.(Arg196Ter)). He was diagnosed with ASD according to ICD-11 and DSM-5 criteria. Clinical examination indicated that this child exhibited severe autistic features and several dysmorphic features, including a flat nasal bridge, bulbous nasal tip, thin upper lip, and triangular face. Magnetic resonance imaging (MRI) of the brain revealed an enlarged perivascular space in the right temporal lobe.ConclusionThis case demonstrates that this de novo heterozygous truncating mutation in MED12L may be involved in the development of ASD, and haploinsufficiency of MED12L may be associated with severe autistic features. Obvious clinical manifestations and dysmorphic features in this child with a truncating mutation in MED12L expand the phenotypic spectrum of MED12L-related cases and warrant further functional studies to elucidate the relationship between MED12L and ASD.
Prevalence and predictors of HCV infection among hospitalized psychiatric patients in Poland
BackgroundPatients with mental disorders are at increased risk of hepatitis C virus (HCV) infection, yet the prevalence of HCV among patients in Polish psychiatric ward remains unknown.MethodsA cross-sectional survey was conducted in Poland from 2021 to 2023 in psychiatric wards. Adults recently hospitalized with at least one current mental health condition were eligible and 12–897 individuals were tested for anti HCV antibodies. Patients with confirmed active HCV infection (subsequent nucleic acid testing) were offered treatment.ResultsOf the 12,897 individuals who constituted the sample, 64% were male, and the median age was 45 years (interquartile range: 35–58 years). Among those subjects, 226 patients (representing 1.8% of the total) exhibited a positive HCV antibody test result, and 172 of these patients had active HCV infection (the prevalence of 1.3%). Multivariate analysis identified five risk factors for HCV infection within the investigated population: intravenous drug use (odds ratio [OR] = 9.40; 95% confidence interval [CI]: 6.12–14.44; p<0.001), diagnosed and treated liver disease (OR = 6.17; 95% CI: 4.10–9.26; p < 0.001); blood transfusions prior to 1992 (OR = 2.61; 95% CI: 1.29–5.28; p=0.008), diagnosis of mental and behavioral disorders due to psychoactive substance abuse (OR = 1.97; 95% CI: 1.34–2.91; p=0.001) and previous incarceration (OR = 1.62; 95% CI: 1.08–2.43, p=0.018).ConclusionsHigh prevalence of HCV infection in patients with mental health disorders and specifically in patients who used intravenous drugs suggests the importance of screening for HCV in this vulnerable population.
Intracranial hypertension after MECT: successful transition to rTMS for refractory auditory hallucinations: a case report
A 21-year-old female patient with schizophrenia, whose primary symptom was refractory auditory hallucinations, developed intracranial hypertension syndrome following her first session of modified electroconvulsive therapy (MECT), presenting with severe headache, projectile vomiting, diplopia and meningeal signs. She subsequently received 1 Hz repetitive transcranial magnetic stimulation (rTMS) applied to the left temporo-parietal cortex with each session delivering 1,500 pulses at 74% of the resting motor threshold. Her auditory hallucinations diminished markedly 3 days after completing rTMS and resolved completely 1 week later, accompanied by improved social functioning. No recurrence was observed during 3 weeks of follow-up. This case primarily demonstrates that rTMS may represent a safe and effective alternative for patients with refractory auditory hallucinations who are intolerant to MECT. It serves as a clinical reminder to maintain vigilance for elevated intracranial pressure following MECT, particularly in patients with a history of migraine.