Elizabeth Shephard

The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC ( N = 125). Data on mutation status, cortical tuber burden (magnetic resonance imaging/computed tomography), seizure history, and cognitive ability were collected. Approximately 10 years later, follow‐up assessments of autism, cognitive ability, and epilepsy were completed ( n = 86). Almost 40% of participants met diagnostic criteria for autism, with an additional 42% showing elevated autistic traits. Structural equation modeling identified two indirect pathways linking TSC1/TSC2 mutation with the autism factor score: one via higher cortical tuber burden and infantile spasms and one via spasms alone. Concurrent seizure severity and lower intelligence quotient scores were also associated with higher autism factor scores. These findings provide preliminary longitudinal evidence supporting developmental associations between genetic vulnerability, cortical pathology, and early severe epilepsy with later autism. This highlights the importance of further investigation of early epileptic activity and associated neurodevelopmental outcomes in TSC and may inform understanding of epilepsy‐related pathways associated with autism.

To adapt to social expectations and gain peer acceptance, autistic individuals may engage in compensatory behaviors, known as camouflaging, which has been associated with mental health outcomes including depression and anxiety. Instruments that accurately measure camouflaging in autistic individuals are therefore important. The Camouflaging Autistic Traits Questionnaire (CAT-Q) is widely used in literature and shows good psychometric properties. However, most non-English-speaking countries such as Brazil, lack validated instruments to assess camouflaging behaviours. The present study reports the adaptation of the CAT-Q for Brazil and examines the psychometric properties of its Brazilian version. The translation and cultural adaptation had independent translations and evaluation by expert judges, including autistic adults. A total of 923 autistic and 470 non-autistic adults from across Brazil completed the CAT-Q-BR and the Autism Quotient–Short Version (AQ-10). Confirmatory factor analyses tested the original three-factor structure of the CAT-Q-BR; Convergent validity was examined through associations with autistic traits on the AQ-10 and self-reported anxiety and depression diagnoses and known-groups validity (gender differences) were also analyzed. Results supported the original structure, with acceptable model fit (CFI = 0.964, TLI = 0.96, RMSEA = 0.076, SRMR = 0.066) and internal consistency for total score was good (α = 0.88). No significant association was found between CAT-Q-BR and the AQ-10. However, higher camouflaging scores were significantly associated with self-reported anxiety and depression. Gender-diverse participants reported higher camouflaging compared to cisgender men and women. Overall, findings provide initial evidence supporting the CAT-Q-BR as a reliable measure of camouflaging behaviors in Brazilian adults.

Prospective longitudinal studies have established that infants with family history (FH) of autism or attention-deficit/hyperactivity disorder (ADHD) are likely to experience a range of differences in their early development. However, the vast majority of evidence concerning the early development of these infants has come from high-income-country (HIC) contexts and has not considered the role of psychosocial environmental factors. In this study, we investigated developmental and environmental differences in a large cohort (N=252) of infants aged 6-12 months (mean=8.7 months) with FH of autism (n=36), ADHD (n=66), autism and ADHD (n=84) or without FH (n=66) in a low-and-middle-income-country (LMIC) setting, Brazil. Infants with FH of autism showed significantly lower adaptive communication, motor and daily living skills as well as lower temperamental perceptual sensitivity and vocal reactivity than infants without FH of autism (F>4.18, p9.23, p7.91, p<0.005). Our findings suggest distinct profiles of developmental differences associated with FH of autism versus FH of ADHD and shared environmental vulnerabilities in the home. This work highlights the importance of providing support for infants with FH of autism and ADHD and their families in Brazil.

The association between motor development and caregiver-child interaction is central to early development; motor abilities support children’s exploration of the environment, and caregiver actions change with the acquisition of new motor milestones. Although empirical studies suggest that interaction may contribute to early motor development, findings have been reported across diverse samples and methodological approaches, making it difficult to identify consistent patterns. This systematic review aimed to clarify the association between caregiver-child interaction and motor development in children aged 0–12 years. Observational and longitudinal peer-reviewed studies assessing both constructs were included, with no publication date restrictions. Grey literature and studies lacking statistical analyses were excluded. Searches were conducted in major databases up to May 31, 2025. Risk of bias was independently assessed using the JBI tool, and results were synthesized narratively. A total of 1,917 articles were screened, of which 25 met inclusion criteria. Most samples focused on children under 36 months, limiting generalizability to older age groups. Eighteen studies (72%) reported at least one statistically significant association between motor development and caregiver-child interaction. Most findings indicated small to moderate positive associations between higher interaction quality and better motor outcomes, although null or mixed results were observed. Methodological quality was predominantly high (60%), with the remaining studies rated as moderate (40%). Studies included different biological and environmental contexts, such as prematurity, low-income families, adolescent mothers, and adopted children. This review highlights gaps, including the underrepresentation of older children, low-income settings, diverse racial and ethnic groups, and neurodivergent populations. Addressing these gaps is essential to advance understanding of how interaction quality shapes motor development across early childhood. PROSPERO registration number: CRD420251064181.

A produção científica, especialmente na área da saúde, tem sido criticada por seu distanciamento das necessidades e prioridades das pessoas diretamente afetadas pelos fenômenos investigados. Este artigo tem como objetivo discutir a pesquisa participativa como uma abordagem metodológica e epistemológica capaz de reduzir esse desalinhamento, com ênfase na inclusão de experts por experiência na produção do conhecimento, particularmente no campo da saúde mental. Trata-se de um artigo teórico, baseado em análise crítica da literatura internacional sobre pesquisa participativa, experiência vivida, experts por experiência e coprodução do conhecimento. São discutidos os fundamentos da pesquisa participativa, seus diferentes níveis de participação e suas implicações éticas, clínicas e epistemológicas. Argumenta-se que a articulação entre conhecimento acadêmico e experiência vivida contribui para pesquisas mais relevantes, acessíveis e alinhadas aos contextos reais de vida, além de favorecer intervenções mais viáveis e eticamente responsáveis. O artigo também identifica riscos associados à instrumentalização de experts por experiência, especialmente quando a participação ocorre de forma pontual ou desvinculada de espaços decisórios, bem como desafios estruturais para a consolidação dessas práticas no contexto brasileiro, incluindo limitações institucionais, regulatórias e formativas. Conclui-se que a integração da pesquisa participativa e de experts por experiência fortalece a qualidade, a legitimidade social e o compromisso ético da pesquisa em saúde, ao promover uma produção científica mais democrática, reflexiva e responsiva às realidades que busca compreender e transformar.

Phelan-McDermid Syndrome (PMS), primarily linked to SHANK3 haploinsufficiency, presents with complex neurodevelopmental features, including developmental regression, whose underlying mechanisms are poorly understood. This study investigated the impact of SHANK3 disruption across multiple levels, from gene expression in patient-derived iPSC neurons to in vivo brain network activity. RNA-sequencing of iPSC-derived neurons from PMS patients with SHANK3 disruption only (n = 9) and controls (n = 7) revealed dysregulation in differential gene expression and co-expression modules linked to cell cycle, RNA metabolism, and metabolic pathways in SHANK3 -mutated neurons. All modules were correlated with PMS regression and enriched for genes implicated in neurodevelopmental or neurodegenerative disorders, such as autism, ADHD, and Alzheimer’s disease. At the cellular level, SHANK3 -mutated cultures exhibited increased proliferation of neural progenitors and intermediate progenitor markers. Differentiated neurons showed reduced morphological complexity, specific changes in postsynaptic marker density and puncta size, and electrophysiological characteristics suggestive of neuronal hyperexcitability. Electroencephalography (EEG) in a PMS patient cohort (n = 20) compared to controls (n = 30) demonstrated hyperconnectivity and excessive high-frequency oscillations, suggesting altered neural network dynamics. In summary, the use of different analytical approaches suggested that SHANK3 haploinsufficiency disrupts neurodevelopmental trajectories and revealed that regression in PMS may share common genes and pathways with neurodegeneration. We also characterized molecular and neurophysiological markers that can be useful in therapeutic protocols for PMS.

This pilot study aims to investigate the preliminary feasibility and acceptability of a pre-emptive intervention for infants with a family history of autism and/or attention-deficit/hyperactivity disorder (ADHD) in Brazil. Infants with a first-degree relative diagnosed with autism or ADHD are more likely to meet diagnostic criteria for these conditions later in childhood. From the first year of life, these infants may also experience a range of developmental difficulties as well as differences in their day-to-day interactions with their caregivers. The pre-emptive iBASIS intervention has shown efficacy in enhancing caregiver-infant interaction and social-communication development in infants with family history or early signs of autism in the UK and Australia, but has not been assessed in lower-resource contexts nor for infants with a family history of ADHD. iBASIS was delivered to nine Brazilian mothers of infants aged 4-13 months with and without a family history of autism/ADHD. Quantitative (number of drop-outs, number of sessions completed) and qualitative (themes developed from interviews with the mothers using reflexive thematic analysis) measures were used to assess feasibility and acceptability of iBASIS. Eight of the nine mothers completed all iBASIS sessions. Six mothers interviewed described receiving iBASIS as a positive experience with benefits for themselves and their infants consistent with the themes of the therapy. The mothers considered practical aspects of iBASIS to be feasible and challenges associated with completing the intervention surmountable. These findings provide the first preliminary evidence of the good feasibility and acceptability of iBASIS in a non-English-speaking, socioeconomically and culturally diverse context.

Objective: Previous population-based studies have identified associations between childhood neurodevelopmental traits and depression in childhood, adolescence, and young adulthood. However, neurodevelopmental traits are highly correlated with each other, which could confound associations when traits are examined in isolation. The authors sought to identify unique associations between multiple neurodevelopmental traits in childhood and depressive symptoms across development, while taking into account co-occurring difficulties, in multivariate analyses. Methods: Data from two U.K. population-based cohorts, the Twins Early Development Study (TEDS) (N=4,407 independent twins) and the Avon Longitudinal Study of Parents and Children (ALSPAC) (N=10,351), were independently analyzed. Bayesian Gaussian graphical models were estimated to investigate pairwise conditional associations between neurodevelopmental traits (autism and ADHD symptoms and general cognitive, learning, and communication abilities), socioenvironmental stressors (academic performance and peer relations), and emotional dysregulation in childhood (ages 7–11) and depressive symptoms across development (ages 12, 16, and 21). Results: In both cohorts, bivariate correlations indicated several associations between neurodevelopmental traits and depressive symptoms across development. However, based on replicated findings across cohorts, these pairs of variables were mostly conditionally independent, and none were conditionally associated, after accounting for socioenvironmental stressors and emotional dysregulation. In turn, socioenvironmental stressors and emotional dysregulation were conditionally associated with both neurodevelopmental traits and depressive symptoms. Based on replicated findings across cohorts, neurodevelopmental traits in childhood could be associated only indirectly with depressive symptoms across development. Conclusions: This study indicates that associations between childhood neurodevelopmental traits and depressive symptoms across development could be explained by socioenvironmental stressors and emotional dysregulation. The present findings could inform future research aimed at the prevention of depression in youths with neurodevelopmental disorders.