Complementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency.

Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal disease caused by defective activation of cellular sulfatases comprising clinical features of mucopolysaccharidoses, sphingolipidoses, and other sulfatase deficiencies. We present a case of an infant with feeding difficulties related to autism spectrum disorder (ASD) who was diagnosed at 10 months of age with MSD by next-generation sequencing (NGS). Biochemical results obtained in dried blood spot (DBS) samples were inconsistent and not suggesting MSD in the light of identified pathogenic SUMF1 variants.

Exploring the potential of the ketogenic diet in autism spectrum disorder: metabolic, genetic, and therapeutic insights.

Current treatment approaches for Autism spectrum disorder (ASD) primarily focus on symptom management rather than addressing underlying dysfunctions. The ketogenic diet (KD), a high-fat, low-carbohydrate diet inducing nutritional ketosis, has shown promise in treating epilepsy and may offer therapeutic benefits for ASD by modulating metabolic and neuroprotective pathways. This review examined the potential impact of KD on underlying mechanisms in ASD.

Acquisition of Speech Prosody in a Non-native Tone Language by Children With and Without Autism Spectrum Disorder.

Purpose: Children with autism spectrum disorder (ASD) often show abnormal speech prosody. Tonal languages can pose more difficulties as speakers need to use acoustic cues to make lexical contrasts while encoding the focal function, but the acquisition of speech prosody of non-native languages, especially tonal languages has rarely been investigated.

Methods: This study aims to fill in the aforementioned gap by studying prosodic focus-marking in Mandarin by native Cantonese-speaking children with ASD (n = 25), in comparison with their typically developing (TD) peers (n = 20) and native Mandarin-speaking children (n = 20).

Child and Family Characteristics Associated with Symptoms of Anxiety in Autistic Children: A Biobank Study.

Purpose: Autistic children have an increased likelihood of anxiety, but more research is needed on the characteristics that predict various types of anxiety in this population.

Methods: In this study, we examined a range of child and family predictors of various types of anxiety using a sample of 452 autistic children from the Australian Autism Biobank. We used logistic regression to examine child and family predictors of four common types of anxiety in autistic children: generalised, phobic, separation, and social anxiety.

Affect Expression During Social and Non-Social Contexts in Autistic Young Adults.

Autism spectrum disorder (ASD) is characterized by impairments in social affective engagement. The present study uses a mild social stressor task to add to inconclusive past literature concerning differences in affective expressivity between autistic young adults and non-autistic individuals from the general population (GP). Young adults (mean age = 21.

Bike-Riding Training may Improve Communication Skills and Stereotyped Behavior in Adolescents With Autism.

This research aimed to establish whether 12 weeks of bicycle-riding skills exercises with massed and distributed practice frequency at low and high intensity affect communication performance and stereotyped behavior among adolescent boys with autism. Fifty autistic boys aged 13.3 ± 1.

"Do My Friends Only Like the School Me or the True Me?": School Belonging, Camouflaging, and Anxiety in Autistic Students.

Unlabelled: The prevalence of autistic students in schools is continuously increasing. Typically, the social and sensory differences associated with autism can make the school environment difficult to manage. Autistic students are more likely to experience mental health difficulties than their non-autistic peers.

Neuroligin-3 R451C induces gain-of-function gene expression in astroglia in an astroglia-enriched brain organoid model.

Astroglia are integral to brain development and the emergence of neurodevelopmental disorders. However, studying the pathophysiology of human astroglia using brain organoid models has been hindered by inefficient astrogliogenesis. In this study, we introduce a robust method for generating astroglia-enriched organoids through BMP4 treatment during the neural differentiation phase of organoid development.

Understanding Autism as a Condition in Mental Health Clinical Practice: Clinical Perspectives from a Youth Early Psychosis Service.

Autism is a rapidly growing phenomenon, with rates of diagnosed autism in the community rising every decade. Autism and traits of autism are also regularly part of presentation at youth mental health services, including early psychosis services. In early psychosis services young people's symptoms tend to be formulated through a psychosis lens, rather than a neurodevelopmental lens which can lead to unnecessary medicalised treatment, and treatment plans that do not consider the possible impact of neurodiversity.

Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease.

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease associated with microcephaly and poor neurodevelopmental outcomes. Here we show that the Ohia HLHS mouse model, with mutations in Sap130, a chromatin modifier, and Pcdha9, a cell adhesion protein, also exhibits microcephaly associated with mitotic block and increased apoptosis leading to impaired cortical neurogenesis. Transcriptome profiling, DNA methylation, and Sap130 ChIPseq analyses all demonstrate dysregulation of genes associated with autism and cognitive impairment.

Prevalence of vitamin D deficiency in children with cerebral palsy and autism spectrum disorder: a comparative pilot study.

This study aims to explore the prevalence of vitamin D deficiency (VDD) among children with cerebral palsy (CP) and autism spectrum disorder (ASD) in Bulgaria, while analyzing associated demographic, nutritional, and biochemical factors.

The WAVE complex in developmental and adulthood brain disorders.

Actin polymerization and depolymerization are fundamental cellular processes required not only for the embryonic and postnatal development of the brain but also for the maintenance of neuronal plasticity and survival in the adult and aging brain. The orchestrated organization of actin filaments is controlled by various actin regulatory proteins. Wiskott‒Aldrich syndrome protein-family verprolin-homologous protein (WAVE) members are key activators of ARP2/3 complex-mediated actin polymerization.

Pharmacological treatment in autism: a proposal for guidelines on common co-occurring psychiatric symptoms.

Background: The prevalence of autism spectrum disorder (ASD) has surged, with an estimated 1 in 36 eight-year-olds in the United States meeting criteria for ASD in 2020. Autistic individuals face elevated rates of co-occurring medical, psychiatric, and behavioral conditions compared to non-autistic individuals. The rising ASD-patient demand is increasingly outpacing the capacity of ASD-specialty clinics, resulting in urgent need for autism-competent providers in general practice settings.

Mouse strain-specific responses along the gut-brain axis upon fecal microbiota transplantation from children with autism.

Several factors are linked to the pathophysiology of autism spectrum disorders (ASD); however, the molecular mechanisms of the condition remain unknown. As intestinal problems and gut microbiota dysbiosis are associated with ASD development and severity, recent studies have focused on elucidating the microbiota-gut-brain axis' involvement. This study aims to explore mechanisms through which gut microbiota might influence ASD.

A non-systematic overview review of self-focused emotion regulation in autistic individuals through the lens of the extended process model.

We know that many autistic children, youth, and adults experience difficulties regulating emotions. Existing research has focused mainly on the differences in emotion regulation capabilities between autistic and non-autistic individuals, the relationships between autistic traits and emotion regulation, and how emotion regulation relates to other outcomes, such as social skills and mental health.We want to take a new approach to review the existing emotion regulation research through the lens of a specific theoretical model: the extended process model of emotion regulation.

Determining rates of genetic testing in the evaluation of autism spectrum disorder and intellectual and developmental disorder.

Genetic testing is recommended by various professional organizations as part of clinical guidelines during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous studies demonstrate that rates of genetic testing are low. This study aimed to identify the rates of genetic testing within a large university healthcare network and factors that may be associated with higher or lower rates.

The Role of Glial Cells in Autism Spectrum Disorder: Molecular Mechanisms and Therapeutic Approaches.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits and repetitive behaviors. Emerging evidence highlights the significant role of glial cells, particularly astrocytes and microglia, in the pathophysiology of ASD. Glial cells are crucial for maintaining homeostasis, modulating synaptic function, and responding to neural injury.

Autistic Traits, Emotion Regulation, Social Anxiety, Drinking to Cope, and Problematic Alcohol Use: A Cross-Cultural Examination Among Young Adults from Seven Countries.

Background: Prior research suggests that individuals reporting autistic traits are at heightened risk for alcohol dependence once they begin drinking; thus, examining factors that may lead to problematic drinking in this population is imperative. Neurotypical college students higher in autistic traits tend to have more social anxiety, more challenges with social skills and communication, and weaker social adjustment than those lower in autistic traits, which are risk factors for problematic alcohol use.

Objectives: The present study sought to assess whether university students with more autistic traits would report greater alcohol-related negative consequences, and whether this association would be indirectly influenced by social anxiety, emotion regulation, and drinking to cope.

The Impact of Autistic Traits on Joint Attention in Young Children With Down Syndrome During Mother-Child and Father-Child Interactions.

Purpose: Joint attention predicts later language in Down syndrome (DS) and autism. The co-occurrence of autism in children with DS is 6%-19%, which is higher than in the general population. However, little is known about how co-occurring autism in DS impacts the development of joint attention.

Neuropsychiatric Stabilization in Youths on the Autism Spectrum in the Pediatric Emergency Department: A Call for Practice Standardization.

Introduction: Children and adolescents with neurodevelopmental and psychiatric comorbidities, particularly autism spectrum disorder and developmental delays (ASD/DD), present unique challenges in pediatric emergency department (PED) settings. Youths with ASD/DD are prone to sensory overload and frequently exhibit agitation and/or aggression, necessitating specialized interventions. However, PEDs lack standardized protocols for managing behavioral dysregulation in this vulnerable population, often relying on anecdotal treatment approaches that hinder the provision of safe, effective and individualized care.

Wearable Solutions Using Physiological Signals for Stress Monitoring on Individuals with Autism Spectrum Disorder (ASD): A Systematic Literature Review.

Some previous studies have focused on using physiological signals to detect stress in individuals with ASD through wearable devices, yet few have focused on how to design such solutions. Wearable technology may be a valuable tool to aid parents and caregivers in monitoring the emotional states of individuals with ASD who are at high risk of experiencing very stressful situations. However, effective wearable devices for individuals with ASD may need to differ from solutions for those without ASD.

Dynamic Emotion Recognition and Expression Imitation in Neurotypical Adults and Their Associations with Autistic Traits.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and communication. While many studies suggest that individuals with ASD struggle with emotion processing, the association between emotion processing and autistic traits in non-clinical populations is still unclear. We examine whether neurotypical adults' facial emotion recognition and expression imitation are associated with autistic traits.

Using Heart Rate and Behaviors to Predict Effective Intervention Strategies for Children on the Autism Spectrum: Validation of a Technology-Based Intervention.

Many children on the autism spectrum engage in challenging behaviors, like aggression, due to difficulties communicating and regulating their stress. Identifying effective intervention strategies is often subjective and time-consuming. Utilizing unobservable internal physiological data to predict strategy effectiveness may help simplify this process for teachers and parents.

The Gut Microbiota's Role in Neurological, Psychiatric, and Neurodevelopmental Disorders.

Aim: This article aims to explore the role of the human gut microbiota (GM) in the pathogenesis of neurological, psychiatric, and neurodevelopmental disorders, highlighting its influence on health and disease, and investigating potential therapeutic strategies targeting GM modulation.

Materials And Methods: A comprehensive analysis of the gut microbiota's composition and its interaction with the human body, particularly, its role in neurological and psychiatric conditions, is provided. The review discusses factors influencing GM composition, including birth mode, breastfeeding, diet, medications, and geography.