Autism

BACKGROUND: No study has examined how child and maternal psychopathological difficulties and family factors contribute to the health-related quality of life (HRQOL) of mothers of children with attention deficit hyperactivity (ADHD). AIMS: To investigate the impact of children's diagnosis of ADHD, children's and maternal psychopathology and significant sociodemographic variables of the children, parents and family on HRQOL of mothers of children with ADHD and those of children with typical development (TD) in Taiwan...

Although it has been nearly 100 years since the first description of monoamine oxidase, we are still learning about its role in the healthy brain and how it is altered in various disease states. The present review provides a survey of our current understanding of monoamine oxidases, with a focus on their contributions to neuropsychiatric, neurodevelopmental, and neurodegenerative disease. Important species differences in monoamine oxidase function and development in the brain are highlighted. Sex-specific monoamine oxidase regulatory mechanisms and their implications for various neurological disorders are also discussed...

Paracetamol (PAR) has been employed worldwide for pain and fever treatment during pregnancy and lactation. Epidemiologic studies have shown that exposure to PAR can increase the risk for developmental disorders, such as attention-deficit hyperactive disorder and autism spectrum disorder. This study aimed to investigate if gestational and lactational exposure to human-relevant doses of PAR could alter behavioural and brain oxidative stress parameters in the rat`s offspring. Wistar dams were gavaged daily with water or PAR (35 mg/kg/ or 350 mg/kg) during gestational day 6 to weaning (postnatal day 21)...

The human cerebral hemispheres show a left-right asymmetrical torque pattern, which has been claimed to be absent in chimpanzees. The functional significance and developmental mechanisms are unknown. Here, we carried out the largest-ever analysis of global brain shape asymmetry in magnetic resonance imaging data. Three population datasets were used, UK Biobank (N = 39 678), Human Connectome Project (N = 1113), and BIL&GIN (N = 453). At the population level, there was an anterior and dorsal skew of the right hemisphere, relative to the left...

Adolescents with autism spectrum disorder (ASD) without an intellectual disability have daily living skills (DLS) impairments. An initial feasibility pilot of Surviving and Thriving in the Real World (STRW), a group intervention that targets DLS, demonstrated significant improvements. A pilot RCT of STRW was conducted to extend these findings. Twelve adolescents with ASD were randomized to the treatment or waitlist groups. The treatment group had significant DLS improvements on the Vineland Adaptive Behavior Scales, 3rd Edition and the DLS goal attainment scale...

Previous research has demonstrated that sleep disturbances are positively correlated with sensory sensitivities in children with ASD. Most of these studies, however, were based on cross-sectional analyses, where the relationship across symptom domains was examined at a single time-point. Here, we examined the development of 103 pre-school children with ASD over a 1-3-year period. The results revealed that spontaneous longitudinal changes in sleep disturbances were specifically correlated with changes in sensory sensitivities and not with changes in other sensory processing domains nor with changes in core ASD symptoms...

The prolonged effects of maternal immune activation in response stressors during gestation on the offspring's molecular pathways after birth are beginning to be understood. An association between maternal immune activation and neurodevelopmental and behavior disorders such as autism and schizophrenia spectrum disorders has been detected in long-term gene dysregulation. The incidence of alternative splicing among neuropeptides and neuropeptide receptor genes, critical cell-cell signaling molecules, associated with behavior may compromise the replicability of reported maternal immune activation effects at the gene level...

Different bacterial families colonize most mucosal tissues in the human organism such as the skin, mouth, vagina, respiratory, and gastrointestinal districts. In particular, the mammalian intestine hosts a microbial community of between 1,000 and 1,500 bacterial species, collectively called "microbiota." Co-metabolism between the microbiota and the host system is generated and the symbiotic relationship is mutually beneficial. The balance that is achieved between the microbiota and the host organism is fundamental to the organization of the immune system...

PURPOSE: We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA). METHODS: Variants of PRKAR1B were identified by single- or trio-exome analysis. We contacted the families and physicians of the six individuals to collect phenotypic information, performed in vitro analyses of the identified PRKAR1B-variants, and investigated PRKAR1B expression during embryonic development...

Copy number variation (CNV) at the 16p11.2 locus is associated with neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia. CNVs of the 16p gene can manifest in opposing head sizes. Carriers of 16p11.2 deletion tend to have macrocephaly (or brain enlargement), while those with 16p11.2 duplication frequently have microcephaly. Increases in both gray and white matter volume have been observed in brain imaging studies in 16p11.2 deletion carriers with macrocephaly. Here, we use human induced pluripotent stem cells (hiPSCs) derived from controls and subjects with 16p11...

As we live in a dynamic world, motion is a fundamental aspect of our visual experience. The advent of computerized stimuli has allowed controlled study of a wide array of motion phenomena, including global integration and segmentation, speed and direction discrimination, motion aftereffects, the optic flow that accompanies self-motion, perception of object form derived from motion cues, and point-light biological motion. Animal studies first revealed the existence of a motion-selective region, the middle temporal (MT) area, also known as V5, located in the lateral occipitotemporal cortex, followed by areas such as V5A (also known as MST, the middle superior temporal area), V6/V6A, the ventral intraparietal area, and others...

BACKGROUND: Autism spectrum disorder (ASD) is a chronic neurodevelopmental condition with a prevalence rate above 1%, characterized by deficits in social communication and interaction; restrictive, repetitive patterns of behavior, interests, or activities; and a preference for sameness and routines. The majority of adult ASD patients suffer from comorbid conditions such as depression and anxiety. Therapy options for adult ASD patients are lacking, with presently no available evidence-based interventions in Germany...

BACKGROUND: Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. CASE PRESENTATION: We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11...

Identifying the susceptibility factors of the emotional response to COVID-19 is highly significant for the psychological epidemic-crisis intervention, and autistic-related traits (ATs) is likely to be one of the candidate factors. The current study explored the relationships between ATs, emotional response to COVID-19, and the behavioural immune system (BIS) measured by trait pathogen avoidance and COVID-19 risk perception in the general population. The results showed that ATs predicted increased negative emotions directly and indirectly by enhancing the activation tendency of BIS and COVID-19 risk perception...

Changing teacher willingness to teach inclusive classes is critical in achieving optimal outcomes for students with autism spectrum disorder (ASD). The present study investigated the mechanisms underlying the effects of a teacher training in special education strategies for students with ASD on mainstream school teachers' behavioral intentions toward inclusive education. Specifically, the role of attitudes and autism self-efficacy were explored as mediators in this process. The sample comprised 763 mainstream school teachers from eleven cities in Northeastern Turkey who participated in an intensive training that included special education strategies for students with ASD, evidence-based special education applications, and inclusive education practices...

The serotonin (5-HT) transporter (SERT) is a key regulator of 5-HT signaling and is a major target for antidepressants and psychostimulants. Human SERT coding variants have been identified in subjects with obsessive-compulsive disorder (OCD) and autism spectrum disorder (ASD) that impact transporter phosphorylation, cell surface trafficking and/or conformational dynamics. Prior to an initial description of a novel mouse line expressing the non-phosphorylatable SERT substitution Thr276Ala, we review efforts made to elucidate the structure and conformational dynamics of SERT with a focus on research implicating phosphorylation at Thr276 as a determinant of SERT conformational dynamics...

To assess the relative integrity of early visual and auditory processes in autism spectrum disorder (ASD), we used frequency-tagged visual and auditory stimulation and high-density electroencephalogram recordings of unimodal and dual-modality responses in a case-control design. To test for the specificity of effects on ASD, we recorded from a smaller group of children with attention-deficit hyperactivity disorder (ADHD). Horizontal 3 cycle per degree (cpd) gratings were presented at 5 Hz, and a random stream of /ba/, /da/, /ga/ syllables was presented at 6 Hz...

Because of the COVID-19 pandemic, in-person services for individuals with neurodevelopmental disabilities were disrupted globally, resulting in a transition to remote delivery of services and therapies. For individuals with neurogenetic conditions, reliance on nonclinical caregivers to facilitate all therapies and care was unprecedented. The study aimed to (1) describe caregivers' reported impact on their dependent's services, therapies, medical needs, and impact on themselves as a result of the COVID-19 pandemic and (2) assess the relationship between the extent of disruption of services and the degree of self-reported caregiver burden...

The number of Board Certified Behavior Analysts® (BCBA®s) available outside of the United States is significantly lower than the number of individuals with a diagnosis of autism spectrum disorder (ASD) requiring services. Research on alternative delivery platforms, such as telehealth, to disseminate interventions to those in need is of paramount importance. The current study evaluated the effectiveness of training professionals working with individuals with ASD in behavior-analytic procedures through telehealth...

Variants of the CACNA1C voltage-gated calcium channel gene have been associated with autism and other neurodevelopmental disorders including bipolar disorder, schizophrenia, and ADHD. The Timothy syndrome mutation is a rare de novo gain-of-function variant in CACNA1C that causes autism with high penetrance, providing a powerful avenue into investigating the role of CACNA1C variants in neurodevelopmental disorders. In our previous work, we demonstrated that an egl-19(gof) mutation, which is equivalent to the Timothy syndrome mutation in CACNA1C, can disrupt termination of the PLM axon in C...