Five years after their first film, Dan and Charlie return to share an honest update on Charlie’s autism journey, reflecting on the progress they've made. Through lived experience, they highlight the value of…

Background: The #covid19 pandemic has increased the demand for telepsychiatry in neurodevelopmental assessment; however, few studies have examined the interrater reliability of clinician-rated autism scales, such as the Childhood Autism Rating Scale, Second Edition (CARS2), when used remotely. Although the #feasibility and validity of telehealth assessments have been explored previously, the consistency between remote and in person CARS2 ratings by different clinicians remains underinvestigated. Objective: The objective of this study was to evaluate agreement between CARS2 total scores obtained by different evaluators using telepsychiatry and face-to-face assessments in children with autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD). Methods: In this randomized #feasibility study, 75 children aged 6 to 17 years with diagnoses of ASD, ADHD, or both were enrolled at 5 medical institutions in Japan; 73 of 75 were included in the final analysis. Each participant underwent 2 independent CARS2 evaluations, one face-to-face and the other via telepsychiatry, conducted by different evaluators who were blinded to each other’s ratings. Remote assessments were conducted using a secure video platform with caregiver facilitation. Agreement was assessed using intraclass correlation coefficients (ICCs) for the overall sample and subgroups defined by primary diagnosis, sex, and age. Results: The overall ICC for CARS2 total scores between face-to-face and telepsychiatry assessments was 0.582 (95% CI 0.407‐0.717), indicating moderate agreement. The ICC was 0.546 among participants with ASD as the primary diagnosis and 0.495 among those with ADHD as the primary diagnosis. Point estimates were higher among girls than boys (0.666 vs 0.495) and among children aged 11 years or older than among those aged 10 years or younger (0.676 vs 0.419). In a sensitivity analysis including all participants with an ASD diagnosis, the ICC was 0.580. Conclusions: CARS2 total scores obtained through telepsychiatry showed moderate agreement with scores obtained through face-to-face assessment when the assessments were conducted by different evaluators in different settings. Higher point estimates were observed among older children and girls, although these subgroup findings should be interpreted cautiously. Telepsychiatry-based CARS2 assessment may be considered a complementary approach rather than a replacement for comprehensive face-to-face evaluation. Larger studies using more standardized assessment protocols are needed.

This cohort study investigates the association of congenital TORCH (toxoplasmosis, syphilis, rubella, cytomegalovirus, or herpes simplex) infections with neurodevelopmental and psychiatric outcomes.

AI-MARRVEL helped identify rare BRSK1 variants linked to a neurodevelopmental disorder, with fruit fly studies revealing their effects on neurons.

Researchers at Baylor College of Medicine and Texas Children Hospital’s Duncan Neurological Research Institute (Duncan NRI) have identified a rare genetic...

Background: Though attention deficit hyperactivity disorder (ADHD) is thought to be the most prevalent neurodevelopmental disorder in young people worldwide, there are inequalities in access to psychoeducation and health care support. One way to improve access, potentially increase engagement, reduce health care inequalities, and enhance care is by co-developing digital responsive interventions. These have the potential to support long-term condition management and to act as an adjunct to usual care. Virtual assistants that use large language models can provide information in response to questions and learn to tailor communication to suit an individual user’s needs. This can be especially valuable for people with ADHD who often struggle to regulate attention and can experience communication challenges. Involving people with lived experience in the co-design process is crucial for the development of effective digital interventions. Therefore, this article explores the views and preferences of young people with ADHD and their supporters from the United Kingdom who collaborated with researchers to co-design a prototype chatbot. Objective: This study aimed to co-develop an evidence-based chatbot prototype, intended to help young people with ADHD thrive through improved access to health care information, psychoeducation, and self-management strategies. Methods: An interdisciplinary team was established, including researchers, software developers, clinicians, and lived experience collaborators. Research advisory and working groups were set up in ways that facilitated flexible involvement. Following the person-based approach, guiding principles were established, and workshops were held with young people with ADHD and supporters of young people with ADHD to co-develop an early prototype. Feedback was sought via think-aloud interviews with lived experience collaborators. Results: In total, 9 experts by lived experience and 3 health care professionals chose to engage in workshops, and this feedback informed the development of a SmartADHD chatbot prototype. An off-the-shelf chatbot (GPT-4o hosted on Convai) was trained using resources from the National Health Service (NHS). Overall, 6 experts by lived experience engaged with think-aloud interviews, providing feedback on the prototype conversational flow and feel, the avatar, the text-to-speech, the chatbox feature, and the content of the messages. Seven recommendations are made for future development, which will inform the SmartADHD program of work. Conclusions: These findings provide rich data on the preferences of people with ADHD. Specific recommendations for a chatbot for young adults with ADHD have not been investigated before with young people, making this study a novel contribution to the field. These findings provide an excellent foundation for chatbot development for this group and may be relevant for those developing digital tools for people with ADHD across the lifespan and other neurodevelopmental conditions. Further work is required to elucidate the views of health care professionals and identify the limits of the technology before subsequent evaluation. Trial Registration:

This 13-minute film features SENCO Rachel discussing how parents, teachers, and health visitors can identify early developmental concerns. She explains the support schools can provide, including interventions…

Dr. Nico Bast discusses his paper 'Saccade dysmetria indicates attenuated visual exploration in autism spectrum disorder'.

European Journal of Human Genetics - Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder

Background NPTN encodes human neuroplastin (hNp), a transmembrane immunoglobulin (Ig)-superfamily glycoprotein and a subunit of the plasma membrane calcium (Ca2+)-ATPases (PMCA). The critical importance of hNp and its associations with PMCA in the human brain remains unknown. Methods Here, we describe de novo NPTN variants in individuals with autism and mild-to-severe DD/ID and evaluate their effects using animal models and in silico, molecular, and cellular approaches. Results Four individuals present variants affecting the two hNp isoforms, hNp55 and hNp65. Other four variants affect only the hNp65 isoform. Two individuals independently carry the same loss-of-function nonsense variant, predicted to cause haploinsufficient production of all hNp isoforms. Haploinsufficient Nptn+/– mice displayed reduced levels of Np and PMCA and exhibited altered social behavior. Insufficient Np55/65 production in neurons resulted in reduced PMCA expression and function. Two missense variants caused particular structural and thermodynamic abnormalities and lower expression of hNps in human embryonic kidney (HEK) cells. In primary neurons, these hNp variants failed to regulate cytosolic Ca2⁺ transients. In Drosophila, a missense mutation affecting the PMCA interaction failed to prevent the lethal phenotype caused by hNp ortholog elimination. Conclusions We show that a novel neurodevelopmental disorder characterized by intellectual disability and autism originates from haploinsufficient NPTN gene dosage or insufficient functionality of mutant hNp related to PMCA hypofunction.

Edward Kang’s RetinaMind analyzes patients’ retinal images and accurately diagnoses neurodevelopmental disorders 89 percent of the time

Molecular Psychiatry - Maternal COVID-19 infection associated with offspring neurodevelopmental disorders