Tag: Autism

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Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition whose pathophysiology is thought to arise from complex interactions among genetic variation, molecular and cellular perturbations, and neural circuit dysfunction. Although the distinction between syndromic and non-syndromic ASD was introduced as a pragmatic clinical classification, these clinically defined subgroups may exhibit overlapping yet distinct patterns of genetic liability and molecular dysregulation while also exhibiting mechanistic convergence. This narrative review examines the molecular mechanisms underlying synaptic development, structure, and function, with particular emphasis on the roles of chromatin remodeling and epigenetic regulation in neurodevelopment. It further considers how molecular and cellular alterations may contribute to impaired functional integration at the neural circuit level. By comparing the shared and unique genes and pathways associated with syndromic and non-syndromic ASD, the review identifies potential points of mechanistic convergence across multiple levels of biological organization. To integrate these findings, the review proposes a three-layer hierarchical framework that links gene function (Layer 1), core biological pathways (Layer 2), and clinical phenotypes (Layer 3). By mapping ASD-associated genes onto a functional continuum ranging from local synaptic effectors to global regulators of chromatin and gene expression, this framework illustrates how subtype-enriched genetic factors may give rise to both shared and unique molecular, cellular, and circuit-level alterations. The proposed framework may help identify common and subtype-enriched biological mechanisms, inform biomarker discovery, and provide a conceptual basis for mechanism-informed ASD research and biologically grounded clinical stratification.
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Maternal emotional distress, caregiving burden, and service access among mothers of children with autism spectrum disorder: a qualitative study

IntroductionMothers raising children with autism spectrum disorder (ASD) may experience substantial emotional distress and caregiving burden, whilst family support andaccess to services can shape how these demands are managed. Yet in-depthqualitative evidence on these public mental health dimensions remains limited inSaudi Arabia. This study explored mothers’ experiences of raising a child diagnosedwith ASD.MethodsUsing a qualitative descriptive design informed by a contextualistposition, the study recruited ten mothers through a specialist autism centre inMadinah and the surrounding community. Trained female researchers, all registered nurses, conducted semi-structured interviews in Arabic, each lastingapproximately 60 to 90 minutes. Recordings were transcribed verbatim inArabic; a professional translator produced English transcripts, which a secondbilingual researcher checked before reflexive thematic analysis.Results and discussionSeven interrelated themes captured the mothers’ accounts: diagnosis as an emotional rupture; disruption of daily life by behavioural challenges; learning to understand the child across communication barriers; the cumulative toll of continuous care; adaptation through acceptance, patience, and faith; family support as a buffer or added burden; and compensating for uneven service experiences. Mothersdescribed substantial emotional and caregiving demands, but their experiences varied according to family support and access to services. One account of comprehensive state support provided an important counter-case to the morecommon experience of costly or fragmented provision. The findings position maternal emotional distress and caregiving burden as public mental health concerns shaped by family, social, and service contexts. They support a public mental health response that links maternal mental health promotion with accessible, coordinated, and family-centred care.
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STAT+: The head of Kennedy’s new autism project served in Iraq War, worked with Sesame Street

If you want to understand the federal government’s new initiative to improve autism care and diagnosis, it’s helpful to understand its leader, Russell Shilling. 

Sitting in his Fairfax, Va., office, Shilling is flanked by a colorful tableau: a coterie of medals from his time in the armed forces and a sky blue puppet from his six years working with Sesame Street. He shares his felt doppelganger’s glasses and close-cropped hair, though not its hue.

An experimental psychologist, Shilling has led many lives. During his time in the Navy and at the Defense Advanced Research Projects Agency, he developed virtual reality therapy to help Iraq War veterans with PTSD and constructed early versions of chatbots to destigmatize mental health issues, bringing them into clinics. 

Continue to STAT+ to read the full story…

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Maternal folate receptor alpha autoantibodies and folate levels during pregnancy in relation to autism spectrum disorder: a pilot case-control study

BackgroundFolate receptor alpha autoantibodies (FRAA) are reported to be associated with autism spectrum disorder (ASD) and are found more frequently in mothers of children with ASD. However, the relationship between maternal FRAA during pregnancy, folate status, and ASD risk in offspring remains unclear.ObjectiveIn this exploratory pilot study, we compared maternal serum binding FRAA measured during pregnancy between high-folate ASD cases and childbirth-time–matched mothers of typically developing children.MethodsFRAA were retrospectively analyzed in serum samples collected between gestational weeks 7 and 18 from women whose children were later diagnosed with ASD (case subgroup, n = 10) and mothers of neurotypical children (control subgroup, n = 10). Case samples were selected based on previously measured elevated folate levels, while controls were selected to minimize differences in biobank storage duration.ResultsFRAA were detected in 2 of 10 samples in each group, corresponding to a prevalence of 20%. Although based on limited statistical power, no significant difference in FRAA prevalence was observed.ConclusionIn this exploratory pilot study, no difference in binding FRAA prevalence was found between mothers of children with ASD, who were selected for elevated maternal folate levels, and mothers of neurotypical children. While this finding does not support a link between FRAA and elevated maternal folate levels, the small sample size and selection criteria limit interpretation.LimitationsThe study was limited by the small sample size, differences in subgroup selection, uncertainty in gestational age at sampling, and the inability to assess blocking FRAA.
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Interventional rTMS for Improving Social Perception in Autism

Conditions: Autism Spectrum Disorders (ASD)

Interventions: Device: Neuromodulation by transcranial magnetic stimulation (TMS); Radiation: Anatomo-functional MRI; Device: Eye-tracking; Other: Social Responsiveness Scale, Second Edition (SRS-2)

Sponsors: Assistance Publique – Hôpitaux de Paris; URC-CIC Paris Descartes Necker Cochin

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