2026· Journal of Neurology & Stroke· 0 citations· 9 references
TL;DR
A critical narrative review of contemporary literature examining the interface between SM and ASD in girls, with emphasis on neurobiological mechanisms, dimensional psychopathology, and diagnostic and therapeutic implications reveals converging evidence of shared neurobiological substrates including amygdala hyperreactivity and altered connectivity within social brain networks.
Abstract
Selective mutism (SM) is traditionally classified as an anxiety disorder characterized by a persistent failure to speak in specific social contexts despite preserved language abilities in familiar environments. However, accumulating evidence suggests that SM represents a heterogeneous clinical phenotype in which neurodevelopmental factors may play a significant role. Concurrently, Autism Spectrum Disorder (ASD), particularly in girls, often presents with subtle or atypical manifestations, including social camouflaging and increased internalizing symptoms, contributing to underdiagnosis and delayed recognition. This study aimed to conduct a critical narrative review of contemporary literature (2018–present) examining the interface between SM and ASD in girls, with emphasis on neurobiological mechanisms, dimensional psychopathology, and diagnostic and therapeutic implications.
A structured literature search was performed using PubMed, Scopus, and PsycINFO databases, including studies published between January 2018 and the present. Articles were selected based on predefined inclusion and exclusion criteria, focusing on empirical and theoretical contributions addressing SM, ASD, female phenotype, and related neurobiological and clinical frameworks. The findings reveal converging evidence of shared neurobiological substrates, including amygdala hyperreactivity and altered connectivity within social brain networks, alongside a higher prevalence of autistic traits among children with SM. Additionally, social camouflaging emerges as a central mechanism contributing to the underrecognition of ASD in girls presenting with SM.
The persistent artificial dissociation between anxiety and neurodevelopmental frameworks may obscure underlying mechanisms and compromise diagnostic accuracy. An integrative, sex-sensitive, and transdiagnostic approach is essential for improving assessment and guiding more effective interventions.
There is an urgent need for prospective longitudinal studies to adequately map the aging trajectories of this population of older adults with ASD, which constitute a vulnerable population.
J. P. S. Gontijo, Marcelo H S S Martins, L. M. Alves· Trends in Psychiatry and Psy...· 0 citations
The first systematic review and meta-analysis of psychiatric difficulties in females with Fragile X syndrome, examines associations with intellectual ability and co-occurring autism, and evaluates sex representation within the FXS psychiatric literature are provided.
L. Jenner, Christina Koenig, Rachel M. Hantman et al.· Frontiers in Psychiatry· 0 citations
Background The reported prevalence of Autism Spectrum Disorder (ASD) has risen nearly fourfold over two decades, fuelling debate about whether DSM-5 boundaries still demarcate a coherent clinical category. Between 2020 and 2025, multiple independent research groups have produced a convergent body of critical reflection on this question. Aim This narrative review is an argumentative reappraisal addressing three convergent failures — classificatory, sociocultural, and methodological — and asking what minimum evidentiary standards should govern adult ASD differential diagnosis in complex cases. Four sub-themes traditionally treated separately (sensory profile, female phenotype, personality-disorder differential diagnosis, care-pathway implications) are presented as convergent illustrations of one underlying problem. Methods Narrative integration of peer-reviewed publications (2015–2026) on ASD diagnostic validity, phenotypic and genetic heterogeneity (Type I/Type II partition; Litman et al. SPARK analysis), sensory processing specificity, female phenotype and camouflaging, and differential diagnosis with seven conditions: Borderline, Avoidant, and Schizotypal Personality Disorders; Complex PTSD; ADHD with affective dysregulation; Bipolar Spectrum; OCD-spectrum disorders; and adult disorganised attachment. Literature-identification methods and AI-assisted search with author verification are detailed in Section 1.3. Findings The category aggregates at least two neurobiologically distinct phenotypes — Type I, prototypical, often syndromic, with high genetic load; and Type II, polygenically driven, milder, overlapping with general psychopathology — differentially affected by routine-assessment limitations. The DSM-5 sensory criterion, though neurobiologically grounded, lacks diagnostic specificity. The cross-sectional, single-source, self-report-based model dominating practice is structurally inadequate for Type II presentations and the female phenotype. Recommendations Six minimum standards are specified: structured developmental history with ≥2 informants; multi-context behavioural observation; neuropsychological profiling; granular sensory assessment by modality, direction, and contextual stability; systematic evaluation of alternative diagnoses; and longitudinal formulation with revisability. Specialised pathways should use stepped multidisciplinary triage when differential diagnosis remains unresolved, directing individuals to appropriate parallel or alternative services rather than denying care. A minimum feasible standard for under-resourced settings is articulated alongside the ideal one. Conclusion Restoring diagnostic specificity to ASD is not opposed to the neurodiversity framework. It is the precondition for ensuring that the diagnostic label, when applied, identifies a population for which evidence-based interventions exist and the care pathway is appropriate.
L. Croce, I. Fusaro· Frontiers in Psychiatry· 0 citations
Background: Intellectual disability (ID) is a lifelong neurodevelopmental disorder with significant implications for individuals, families, and educational systems. Despite its prevalence, conceptual and practical challenges remain in defining, diagnosing, and supporting individuals with ID, particularly within Arab contexts. Aim: This conceptual review aims to synthesize contemporary literature on the definition, etiological factors, diagnostic procedures, and evidence-based interventions for ID, with a specific focus on shifting from a deficit-based model to a supports-based model. Methods: A narrative review of peer-reviewed literature, guidelines from the American Association on Intellectual and Developmental Disabilities (AAIDD), and regional Arabic sources was conducted. Results: The AAIDD (2002) defines ID as significant limitations in both intellectual functioning and adaptive behavior originating before the age of 18. Although etiological factors exceed 200 causes, 75% of cases remain idiopathic. These causes are categorized into prenatal (genetic and non-genetic), perinatal, and postnatal factors. Best practices emphasize the importance of multidimensional assessment over the sole reliance on Intelligence Quotient (IQ). Furthermore, interventions are structured across primary, secondary, and tertiary prevention levels, encompassing medical, psychological, social, and educational domains. Conclusion: Adopting a supports-based, culturally responsive framework is essential for improving outcomes and social inclusion for individuals with ID in Saudi Arabia and the wider Arab world.
S. Alharbi· International Journal of Rec...· 0 citations
Although the observed 4:1 ratio aligns with global trends, the findings suggest under-identification of females, and gender-sensitive diagnostic tools are needed to improve detection and understanding of ASD in females.
Nishant Prabhakaran, S. Kaku, Ann Maria Moncy et al.· Journal of Autism and Develo...· 0 citations
Communication development in individuals with neurodevelopmental conditions requires interdisciplinary approaches to better understand its complexity. This study aimed to analyze scientific evidence on language development in individuals diagnosed with Autism Spectrum Disorder, considering contributions from cognitive neuroscience and linguistics. An integrative literature review was conducted using the ERIC, SciELO, Latindex, DOAJ, and LIVRE databases, including publications from 2020 to 2026. A total of 285 records were identified, and 13 studies met the eligibility criteria for the final analysis. The findings indicate substantial individual variability in language development, influenced by neurobiological, cognitive, and environmental factors, with pragmatic communication skills being the most affected. Early and individualized interventions were consistently associated with improved functional communication outcomes. The findings reinforce the need for integrated explanatory models capable of supporting evidence-based clinical and educational practices
Naiara Cristina de Souza Garajau, Patrícia Bárbara Cândida dos Santos, Altienes Vilanova dos Passos et al.· Revista de Estudos Interdisc...· 0 citations
