The purpose of this study is to determine the effects of fever on the behavior of young children (aged 2 to 7 years) with autism spectrum disorder (ASD), compared with a typically developing control group. Although clinical case reports have described behavioral changes in response to fever in children with ASD, few empirical investigations of this phenomenon have been conducted.
Autism spectrum disorder (ASD) risk is imparted by both common and rare genetic variation, making it, in part, a collection of rare diseases. One of these rare forms is caused by recessive mutations in the gene CNTNAP2, which causes a syndrome with high penetrance for ASD and is now the most common neurodevelopmental disorder observed in the Amish.
It is well established that homeostatic signaling systems interface with the mechanisms of developmental and learning-related plasticity to achieve stable yet flexible neural function and animal behavior. Experimental evidence from organisms as diverse as Drosophila, mice and humans demonstrates that homeostatic signaling systems stabilize neural function through the modulation of synaptic transmission, ion channel abundance and neurotransmitter receptor trafficking. At a fundamental level, if homeostatic plasticity is compromised, then the nervous system will be less robust to perturbation. As such, it is widely speculated that defective or maladaptive homeostatic plasticity will be relevant to the cause or severity of autism. However, clear molecular or genetic links between autism and homeostatic plasticity have yet to be defined in any organism.
Social recognition is essential for individuals to survive, reproduce and raise their young. In people, social recognition can be severely affected by conditions such as autism spectrum disorders (ASDs). Interestingly, anecdotal reports from parents and professional caregivers suggest that children with ASD can exhibit improved social interactions during episodes of fever. Deciphering the unique characteristics of social recognition in animals and people, and understanding how this behavior may be affected by external influences, are critical steps toward helping to treat individuals suffering from social behavior deficits.
Individuals with autism spectrum disorder (ASD) show persistent deficits in social communication and interaction. Reduced attention to social stimuli, including the human face, is thought to at least partially explain these deficits. Males are at least four times more likely to be diagnosed with ASD than females, but the biological basis of this gender discrepancy is not understood. If gender differences in face selectivity and processing exist, this may at least partially explain the gender bias seen in ASD.
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental syndromes characterized by repetitive behaviors and deficits in language development and social interactions. To understand how ASDs affect behaviors in people, genetic models of ASDs in laboratory mice are needed; such models will allow researchers to test theories about how ASDs affect the brain and lead to behavioral symptoms, and will enable tests of future drugs to treat ASDs.
Autism spectrum disorders (ASDs) comprise a constellation of symptoms, including impaired social interactions, communication and language deficits, and repetitive behaviors that manifest during early development. Various genetic targets associated with ASDs have been identified, but given the spectrum of symptoms, it has become clear that multiple genes play a part in the disorder. Dysfunction of cortical connectivity is thought to be a hallmark of ASDs, and many of the genes implicated in ASD are involved in synapse formation and function. Although many recent studies have investigated synaptic connections in ASD, the underlying mechanisms are still unknown.
Each year, more candidate compounds for the treatment of autism spectrum disorder (ASD) are being explored. Recent findings in mouse models have particularly heightened excitement about potential treatments, with pharmaceutical interventions rescuing core behavioral, electrophysiological and molecular deficits in multiple mouse models of neurodevelopmental disease. A key discovery came from studies of a Rett syndrome mouse model — mice in which the MeCP2 gene is nonfunctional — that demonstrated that neurodevelopmental deficits can be genetically rescued even after critical developmental time windows have passed[ref]Guy J. et al. Science 315, 1143-1147 (2007) PubMed[/ref], [ref]Robinson L. et al. Brain 135, 2699-2710 (2012) PubMed[/ref]. These results give hope that individuals with neurodevelopmental disorders need not be treated very early in their time-course to gain some benefit from an effective therapy. We are, however, still missing a general understanding of what specific deficits can be rescued, and how quickly, in ASD and related neurodevelopmental disorders.
In a previously funded SFARI study of 100 children with autism spectrum disorder (ASD), Ruth O’Hara and her colleagues found that sleep-disordered breathing (SDB) — such as sleep apnea — occurs in more than 40 percent of children with ASD, a far higher rate than that seen in typically developing children. SDB is strongly linked to cognitive and behavioral deficits and elicits a systemic inflammatory response. Recent studies have focused on the role of microparticles (MPs) in SDB disorders. Cell-derived MPs are microvesicles of 0.05 to 1 micrometers, released through exocytic budding of the plasma membrane, following stimulation of different cell types.
Between 55 and 70 percent of children with autism spectrum disorders (ASDs) experience sensory over-responsivity (SOR), a severe and negative response to, or avoidance of, sensory stimuli such as noisy environments, unexpected loud noises, scratchy clothing or being touched. Children with ASD and SOR have more anxiety, greater functional impairment and poorer social outcomes than those without it. Because SOR has only recently been considered in the diagnostic criteria for ASD, it has not yet been well studied and little is known about brain mechanisms of SOR or how to treat it.