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Funded WorkThe activation of extracellular signal-related kinase (ERK), a key enzyme in cellular signaling, may prove to be a useful biomarker in autism, as an aid in early … -
Funded WorkChromosomal microarray (CMA) analysis to detect copy number variations (CNVs) —duplication or deletion of chromosomal regions — is the recommended first-tier diagnostic screen for autism, and studies of … -
Funded WorkAutism has strong genetic origins, but neither common nor rare gene variants explain the majority of cases. -
Funded WorkAlthough intellectual impairment is not one of the diagnostic criteria for autism spectrum disorders, half or more of all people with autism have an intellectual disability. -
Funded WorkAutism encompasses a range of cognitive and behavioral characteristics, and studies suggest that certain genetic abnormalities are common in individuals with autism. -
Funded WorkAutism spectrum disorders share common features of impaired social relationships, impaired language and communication, repetitive behaviors and a limited range of interests. -
Funded WorkMany single-gene disorders linked to autism affect proteins that modulate the translation of messenger RNA into proteins that function at synapses, the junctions between neurons. -
Funded WorkA hallmark of autism spectrum disorders is impaired social interactions. -
Funded WorkThe term ‘autism spectrum disorder’ exemplifies the tremendous heterogeneity in this neurodevelopmental disorder at both the clinical and underlying genetic levels. -
Funded WorkContactin-associated protein-like 2 (CASPR2, encoded by the gene CNTNAP2) is a cell adhesion molecule that is essential for proper neuronal function. -
Funded WorkAbnormal brain wiring during early development may be a causal factor in autism spectrum disorders. -
Funded WorkStelios Smirnakis and his team at Baylor College of Medicine in Houston, Texas, worked to understand how genetic defects in autism lead to malfunction at the circuit level. -
Funded WorkAutism spectrum disorders and fragile X syndrome have a remarkable clinical association and share biological ties to the molecular pathways critical for communication between brain cells, at synaptic … -
Funded WorkGenetic factors are thought to play a major role in the occurrence of autism. -
Funded WorkSome copy number variants associated with autism lead to measurable anatomical defects or exhibit ‘mirrored phenotypes,’ meaning that deletions and duplications of the chromosomal region have opposite anatomical … -
Funded WorkGrowing evidence indicates that neuronal circuit dysfunction may underlie autism behaviors, although the nature of this impairment and how it leads to autism is still unclear. -
Funded WorkA newly discovered genetic condition called TMLHE deficiency results in the loss of the ability to make carnitine in the body. -
Funded WorkChildren with autism spectrum disorders vary considerably in their language abilities, but even verbally proficient children have difficulty with two aspects of language: pragmatic inference, which uses context … -
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Funded WorkElectrical signals in neurons rely on the proper function of voltage‐gated sodium channels. -
Funded WorkFunctional connectivity in the brain refers to the synchronization of neuronal circuits to transfer information within and between the circuits. -
Funded WorkAutism can be caused by a number of different genetic alterations, some of which result in known syndromes. -
Funded Work.m-block-text>:first-child { margin-top:none; } -
Funded WorkAngelman syndrome is a severe neurodevelopmental disorder characterized by intellectual disability, motor dysfunction, seizures and the absence of speech, and it shows a high comorbidity with autism. -
Funded WorkDennis Wall and his colleagues used machine learning to study gold-standard instruments used for assisting the diagnosis of autism. -
Funded WorkCertain gene mutations can compromise normal protein functioning, leading to heritable diseases. -
Funded WorkThe most common genetic cause of autism is the deletion or duplication of a small region of human chromosome 16. -
Funded WorkA major obstacle impeding the development of effective treatments for autism is the complexity of factors, such as genetic mutations, epigenetics and environmental influences that contribute to the … -
Funded WorkAngelman syndrome is a severe neurodevelopmental disorder characterized by intellectual disability, motor dysfunction, seizures and the absence of speech, and it shows a high comorbidity with autism. -
Funded WorkDespite tremendous efforts to genetically and phenotypically characterize individuals with autism, we are still at the earliest stages of understanding how autism occurs. -
Funded WorkA hallmark symptom of autism spectrum disorders is impairment in social interactions, yet little is known about the neural mechanisms underlying this deficit. -
Funded WorkMotor stereotypies, a core feature of autism, are involuntary, repetitive movements that are often associated with self-injury. -
Funded WorkA hallmark of autism is impairment in reciprocal social interaction, including inadequate eye contact and failure to recognize emotions. -
Funded WorkIn daily life, people often experience activation of multiple sensory systems at the same time. -
Funded WorkPerturbed neuronal arborization, or branching, and defects in long-range connectivity are likely to be shared mechanisms in many forms of severe autism. -
Funded WorkPavel Osten and his colleagues at Cold Spring Harbor Laboratory in New York studied mouse brain circuits that mediate social and other innate behaviors, such as aggression and … -
Funded WorkAutism spectrum disorders are prevalent neurodevelopmental disorders that involve early postnatal symptoms and regression of developmental milestones within the first few years of life. -
Funded WorkDespite the high heritability of autism, the genetic risk factors are still poorly understood. -
Funded WorkSeveral genes have been identified that contribute to the risk of developing autism spectrum disorders. -
Funded WorkAutism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by impairments in social interaction and communication, and restricted, stereotyped behaviors that manifest in early childhood. -
Funded WorkThe chemical messenger serotonin has long been associated with autism. -
Funded WorkWe lack effective tools for assessing behavior and cognition in the most severely impaired individuals with autism. -
Funded WorkAutism spectrum disorder is widely regarded as one of the most severe childhood psychiatric conditions. -
Funded WorkThe younger siblings of children diagnosed with autism are at an increased risk for autism themselves. -
Funded WorkThere is an immense need to find new treatments for children with autism. -
Funded WorkThe mission of the Simons Center for the Social Brain at the Massachusetts Institute of Technology (MIT), directed by Mriganka Sur, is to understand the neural mechanisms underlying … -
Funded WorkSome forms of autism spectrum disorder include stereotyped, repetitive motor behaviors.