autism spectrum

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INTRODUCTION: Neuropsychological deficits in areas of Executive Functioning (EF), theory of mind, and central coherence have been well-documented among children and adolescents with autism spectrum disorder (ASD); however, there remains a significant gap in knowledge with regards to neuropsychological profile in adults with ASD. This study aims to investigate the intellectual functioning and neuropsychological profiles of a clinical population of adults with ASD. METHODS: This cross-sectional study included 40 available autistic individuals referred to an adult developmental disorders clinic at a hospital between 2021 and 2022...

This study applied the functional near-infrared spectroscopy (fNIRS) to investigate frontal activity in autism when performing verbal fluency test and emotion recall task. We recruited 32 autistic adults without intellectual disability and 30 typically-developing controls (TDC). Prefrontal hemodynamic changes were evaluated by fNIRS when the participants performed the verbal fluency test and emotion recall task. fNIRS signals in the prefrontal cortex were compared between autism and TDC. Compared to TDC, autistic adults showed comparable performance on the verbal fluency test but exhibited lower frontal activity on the vegetable category...

Children with autism spectrum disorder (ASD) are five times more likely to have feeding difficulties than neurotypical peers, although the majority of evidence describes feeding difficulty in children age 2 years and older. The purpose of this study is to systematically review the literature on feeding characteristics of children age 0-24 months who were later diagnosed with ASD with an emphasis on the measurement tools used to assess these feeding behaviors. We conducted a systematic review of the literature using PRISMA guidelines...

Individuals with Autism Spectrum Disorder (ASD) present atypical sensory processing in the perception of moving stimuli and biological motion. The present study aims to explore the performance of young adults with ASD in a time to contact (TTC) estimation task involving social and non-social stimuli. TTC estimation involves extrapolating the trajectory of a moving target concealed by an occluder, based on the visible portion of its path, to predict the target's arrival time at a specific position. Sixteen participants with a diagnosis of level-1 ASD (M = 19...

Autism Spectrum Disorder (ASD) arises from complex genetic and environmental factors, with inherited genetic variation playing a substantial role. This study introduces a novel approach to uncover moderate effect size (MES) genes in ASD, which individually do not meet the ASD liability threshold but collectively contribute when paired with specific other MES genes. Analyzing 10,795 families from the SPARK dataset, we identified 97 MES genes forming 50 significant gene pairs, demonstrating a substantial association with ASD when considered in tandem, but not individually...

PURPOSE: To compare (1) motor proficiency of persons diagnosed in adulthood with attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) with normative values of motor proficiency, and (2) motor proficiency between persons with ADHD and those with ASD diagnosed in adulthood. METHODS: A total of 153 adults (median age 32 years, 36% women) participated in this cross-sectional study. Fifty-three persons with predominately inattentive presentation (ADHD-I), 67 persons with combined presentation (ADHD-C), and 33 persons with ASD performed the Bruininks-Oseretsky Test of Motor Proficiency (BOT-2)...

Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes...

Autism Spectrum Disorders (ASD) are principally diagnosed by three core behavioural symptoms, such as stereotyped repertoire, communication impairments and social dysfunctions. This complex pathology has been linked to abnormalities of corticostriatal and limbic circuits. Despite experimental efforts in elucidating the molecular mechanisms behind these abnormalities, a clear etiopathogenic hypothesis is still lacking. To this aim, preclinical studies can be really helpful to longitudinally study behavioural alterations resembling human symptoms and to investigate the underlying neurobiological correlates...

Fears and phobias are a common mental health concern for youth, and particularly for autistic youth. The following review briefly summarizes the extant literature on specific phobias and specific phobias in autistic youth. The evidence base is briefly highlighted pointing to the strong base behind behavioral and cognitive-behavioral treatments and techniques. A broad discussion of key evidence-based treatment findings is presented, leading up to the impactful work of Thomas H. Ollendick in researching Öst's One-Session Treatment (OST) with children and adolescents...

Pathogenic variants in SLC6A8, the gene which encodes creatine transporter SLC6A8, prevent creatine uptake in the brain and result in a variable degree of intellectual disability, behavioral disorders (e.g., autism spectrum disorder), epilepsy, and severe speech and language delay. There are no treatments to improve neurodevelopmental outcomes for creatine transporter deficiency (CTD). In this spotlight, we summarize recent advances in innovative molecules to treat CTD, with a focus on dodecyl creatine ester, the most promising drug candidate...

BACKGROUND: Paediatric occupational therapy (OT) is considered the largest practice area in OT in several regions, including the Eastern Mediterranean (EM) countries. AIMS/OBJECTIVES: This study aimed to establish a profile of paediatric occupational therapists in EM countries to identify theoretical models, assessments and interventions employed. It also investigated the therapists' usage of evidence-based practice in their practice. MATERIAL AND METHODS: We conducted a cross-sectional survey using a questionnaire which was distributed electronically to occupational therapists working with children...

BACKGROUND: Over the last century, animal models have been employed to study the gut-brain axis and its relationship with physiological processes, including those necessary for survival, such as food intake regulation and thermoregulation; those involved in diseases, ranging from inflammation to obesity; and those concerned to the development of neurodegenerative diseases and neuropsychiatric disorders, such as Alzheimer's disease and autism spectrum disorder, respectively. SUMMARY: The gut microbiota has been recognized in the last decade as an essential functional component of this axis...

The neuronal differences contributing to the etiology of autism spectrum disorder (ASD) are still not well defined. Previous studies have suggested that myelin and axons are disrupted during development in ASD. By combining structural and diffusion MRI techniques, myelin and axons can be assessed using extracellular water, aggregate g-ratio, and a new approach to calculating axonal conduction velocity termed aggregate conduction velocity, which is related to the capacity of the axon to carry information. In this study, several innovative cellular microstructural methods, as measured from magnetic resonance imaging (MRI), are combined to characterize differences between ASD and typically developing adolescent participants in a large cohort...

BACKGROUND: Maternal preeclampsia is associated with a risk of autism spectrum disorders (ASD) in offspring. However, it is unknown whether the increased ASD risk associated with preeclampsia is due to preeclampsia onset or clinical management of preeclampsia after onset, as clinical expectant management of preeclampsia allows pregnant women with this complication to remain pregnant for potentially weeks depending on the onset and severity. Identifying the risk associated with preeclampsia onset and exposure provides evidence to support the care of high-risk pregnancies and reduce adverse effects on offspring...

IMPORTANCE: Autism spectrum disorder (ASD) is a neurodevelopmental disorder more prevalent in males than in females. The cause of ASD is largely genetic, but the association of genetics with the skewed sex ratio is not yet understood. To our knowledge, no large population-based study has provided estimates of heritability by sex. OBJECTIVE: To estimate the sex-specific heritability of ASD. DESIGN, SETTING, AND PARTICIPANTS: This was a population-based, retrospective analysis using national health registers of nontwin siblings and cousins from Sweden born between January 1, 1985, and December 31, 1998, with follow-up to 19 years of age...

Autism spectrum disorder (ASD) is a neurodevelopmental illness characterized by impaired social interaction and restricted repetitive behaviors or interests. The rising prevalence of ASD diagnosis has triggered a surge in research into investigating the underlying neuropathological processes and finding new therapeutic approaches. ASD is characterized by neuroinflammation and dysregulation of neuro-immune cross-talk, which suggests that stem cell treatment might be a potential therapeutic approach. The beneficial and restorative effects of stem cells are mainly due to their paracrine activity, in which stem cells generate and release extracellular vesicles such as exosomes and distinct secreted non-vesicle soluble proteins, including, growth factors, chemokines, cytokines, and immunomodulatory molecules referred to as the Secretome...

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by social deficits and stereotyped, repetitive patterns of behaviors, limited interests, and cognitive impairment. Especially, social deficit has been considered a core feature of ASD. Because of the limitations of the experimental approach in humans, valid animal models are essential in an effort to identify novel therapeutics for social deficits in ASD. The genetic and environmental factors are clinically relevant to the pathophysiology of ASD...

The human gut microbiome plays an important role in the maturation of the neural, immune, and endocrine systems. Research data from animal models shows that gut microbiota communicate with the host's brain in an elaborate network of signaling pathways, including the vagus nerve. Part of the microbiome's influence extends to the behavioral and social development of its host. As a social species, a human's ability to communicate with others is imperative to their survival and quality of life. Current research explores the gut microbiota's developmental influence as well as how these gut-brain pathways can be leveraged to alleviate the social symptoms associated with various neurodevelopmental and psychiatric diseases...

BACKGROUND: Tourette syndrome (TS) and autism spectrum disorder (ASD) are two neurodevelopmental disorders with an onset before the age of 18 years. TS patients frequently reported atypical sensory phenomena (SP). Sensory processing abnormalities are also particularly frequent in ASD individuals. OBJECTIVES: Considering the higher rate of atypical sensory behaviours in both neurodevelopmental disorders, in the present study we analysed sensory experiences in patients with ASD and in patients with TS...