Funded Work

Between one-third and one-half of individuals with autism display repetitive, self-injurious behavior, ranging from head banging to self-directed biting and punching.

Individuals with 16p11.2 syndrome, a disorder caused by a deletion or duplication of a section of chromosome 16, exhibit a broad variety of motor abnormalities, including clumsiness …

Albert Basson and his colleagues at King’s College London plan to study the function of the CHD8 gene in brain development.

The overall goal of Michael Higley’s project was to elucidate the changes in synaptic connectivity caused by interneuron-specific loss of the autism-associated gene tuberous sclerosis …

Many young children with autism show brain overgrowth soon after birth, suggesting a very early, possibly prenatal origin of autism-linked neuropathological features.

Autism spectrum disorders are genetically heterogeneous, but whether they share a common neural circuit-processing defect is unclear.

Carlos Portera-Cailliau plans to investigate how brain circuits are altered in animal models of autism and intellectual disability.

Autism genetics has made demonstrable progress in the past few years with the recognition of the role of de novo, or spontaneous, copy number variants (CNVs), loss-of …

André Fenton and his group at New York University hypothesize that a common pathophysiology underlies the failures of cognitive flexibility that are characteristic of autism.

The goal of Evan Eichler’s project is to define high-impact genes and mutations associated with sporadic autism.

Learning to automatize actions and form habits is critical for mastering everyday skills and activities such as riding a bike, speaking or writing.

Studies since 2010 have identified a large number of genes that, when mutated, cause autism.

Numerous genetic pathways have been implicated in autism, and the effects on neural function of genetic variations in these pathways have been studied.

Significant progress has been made on identifying and characterizing the molecular and genetic changes that contribute to the altered patterns of brain development and connectivity in autism.

Autism is a sex-biased, complex disorder in which the recurrence risk for siblings of girls with autism is 7 percent, compared with 3.2 percent for siblings …

Clinical studies in 2011 showed a completely novel genetic link between the VIPR2 gene and both schizophrenia and autism.

KATNAL2 is a recently identified autism gene that is predicted to code for a microtubule-severing enzyme.

Evan Eichler and his colleagues are investigating the genetics underlying the variability of disease associated with deletion or duplication of chromosomal region 16p11.2.

Autism is often described as the ‘intense world syndrome,’ referring to the observation that individuals with autism experience sensory input as too intense.

The way a child with autism communicates through speech plays a significant role in educational, psychosocial and eventual vocational aspects of quality of life.

Autism can be thought of as a disconnection syndrome, in which the normal interactions between areas of the cerebral cortex are disrupted.

Advancing scientific knowledge for individuals severely affected by autism is a strategic priority for the leading autism science foundations and the National Institutes of Health.

Accumulating evidence suggests that autism spectrum disorder symptoms arise from a disruption in the process of experience-dependent synaptic plasticity that normally occurs during critical periods of development.

Epidemiological and clinical studies show that children with autism have a ten-fold higher risk of epilepsy compared with the general population.

Fever or fever-associated illness in children with autism is reported to result in temporary relief of cognitive and behavioral symptoms.

The search for genetic risk factors for autism has revealed rare mutations in many genes.

David Heeger, André Fenton and Robert Froemke of New York University, in collaboration with Marlene Behrmann of Carnegie Mellon University in Pittsburgh, are investigating the possibility that generic …

Genetic and neuroimaging studies provide strong evidence that the gene CNTNAP2 (also known as CASPR2) is a critical risk factor for autism spectrum disorders.

Duplication of a small region on chromosome 22, resulting in 22q11.2 duplication syndrome, has been associated with autism, but to date there has not been a large …

Fragile X syndrome, which is closely associated with autism, is a single-gene disorder caused by the lack of a protein that suppresses protein synthesis.

New protein synthesis is essential for long-lasting memory, and the proteins ERK and mTOR, which regulate gene translation, have a crucial role in this process.

SHANK mutations and copy number variations  (CNVs) — duplications or deletions of stretches of DNA — are linked to autism.

The causes of social dysfunction in autism, a core symptom of the disorder, remain unknown.

Similar to the well-known critical period in development for language acquisition, there is likely to be a critical window during childhood for acquiring normal social behavior.

Folic acid is an essential vitamin, meaning that people must consume folic acid in the diet, as the body is unable to manufacture it on its own.

The diagnosis of autism spectrum disorders is currently based on behavioral observations.

Human genomes differ from one another in many respects.

Autism appears to be caused by aberrant synapses, or connections between brain cells.

Few robust biomarkers have been identified for autism, and there are no medications that treat the social deficits associated with the disorder.

Disruption in the number and function of brain synapses — the connections between neurons — is a central feature in the development of autism and associated cognitive disabilities.

Immune system activity in the central nervous system (CNS) has been implicated in numerous neuroinflammatory diseases.

Rett syndrome involves a number of developmental deficits similar to those observed in autism, including dysregulated motor movements, communication skills and cognitive processes.

Autism is a deeply complex and poorly understood developmental brain disorder.

Children with autism have been shown to display an increased latency of auditory processing, as measured by the electroencephalography (EEG) response to a sound as well as differences …

One of the core symptoms of autism is impaired interpretation of social cues and abnormal emotional responses to social cues.

Deficits in social behaviors are a core aspect of autism and can be quite debilitating.

Significant progress has been made in recent years in identifying genetic factors contributing to autism.

The core set of behavioral symptoms that define autism spectrum disorders can arise from a wide array of genetic and environmental causes.