Funded Work

Although the clinical manifestations of autism spectrum disorders are highly variable and their underlying causes are still largely unknown, accumulating evidence implicates variations in genes encoding synaptic proteins …

In most cases of autism, the cause is unknown.

Copy-number variations (CNVs) are losses or gains of genetic material, such as a deletion or duplication of a chromosomal region.

The development of brain cell connections, or synapses, in humans occurs during the third trimester of prenatal life and throughout the first few years of life.

The development of brain cell connections, or synapses, occurs during the third trimester of gestation and throughout the first few years of life.

This was a one-year project designed to obtain initial electrophysiological data from individuals with autism undergoing neurosurgery.

CNTNAP2 is a gene that encodes a member of the neurexin family of proteins and has been implicated in autism spectrum disorders.

Perturbations in the fundamental brain processes that underlie eye movement may be linked to the psychological and neural abnormalities seen in individuals with autism spectrum disorders.

Neuroligins (NLGNs) are evolutionarily conserved cell adhesion proteins that mediate the formation of synapses between neurons.

A pervasive aspect of autism is hypersensitivity to sensory stimuli.

Ruth O’Hara and her colleagues at Stanford University investigated the types of sleep disorders that are most prevalent in autism.

Copy number variants (CNVs) are segments of DNA that vary in copy number between different individuals.

Autism is a syndrome with many causes.

Copy number variations (CNVs), or altered numbers of certain stretches of DNA, have been implicated as a genetic cause of autism.

One copy of 22q11.2, a segment of chromosome 22 that includes several genes, is missing in 1 of every 4,000 individuals.

New protein synthesis is essential for long-lasting memory, and regulation of neuronal translation by the ERK and mTOR signaling pathways plays a crucial role in this process.

Functional brain imaging studies of individuals with autism suggest that brain activity in response to sensory stimuli is delayed, multisensory brain responses are integrated over a longer time …

Autism spectrum disorders are a clinically heterogeneous group of disorders that share common features.

About 15 to 30 percent of children with autism are at risk of epilepsy, which is roughly ten times higher than the general population.

Betty Diamond and her colleagues at The Feinstein Institute for Medical Research in Long Island, New York, demonstrated the presence of antibodies that bind to brain tissue in …

Mutations in certain genes that encode proteins at the synapse, the junctions between neurons, are known to be associated with autism spectrum disorders.

There is currently no cure for any autism spectrum disorder, and the current pharmacological treatments have had limited success.

The most common inherited form of autism is fragile X syndrome, which is caused by genetic inactivation of the fragile X mental retardation protein (FMRP).

At least 100 different genes have been implicated in autism spectrum disorders.

For individuals with autism, the process of socialization is derailed at a very early age.

Christopher Walsh and his colleagues at Boston Children’s Hospital have been studying the genetics of autism by analyzing inherited recessive mutations in consanguineous families — those in which …

Autism impairs the development of social behavior, emotions and communication.

Children with autism and related disorders often have problems with language acquisition.

Luis Parada and his colleagues at the University of Texas Southwestern Medical Center in Dallas have been studying the brain morphology and behavior of mice with mutations that …

Jesse Snedeker and her colleagues at Harvard University conducted a series of studies on language comprehension in autism.

Charles Nelson and his colleagues at Boston Children’s Hospital/Harvard Medical School investigated early brain development in infants at high familial risk for autism.

Large-scale population studies are valuable for elucidating gene-environment interactions that contribute to the risk of autism.

The underlying causes of autism spectrum disorders are poorly understood, but one appealing hypothesis is that an imbalance of excitation and inhibition in the brain’s cortex underlies …

A major goal of autism research is to identify the underlying genetic variants that contribute to risk of the disorder.

A number of the genes that have been implicated in autism have counterparts in model organisms, such as mice and fruit flies.

Four times as many males as females are afflicted with autism.

Flora Vaccarino and her colleagues at Yale University have developed and characterized several lines of human induced pluripotent stem (iPS) cells from the skin cells of two individuals …

Many symptoms of autism, such as social impairments and repetitive behaviors, are accompanied by abnormal brain activity in the forebrain region.

People with autism spectrum disorders often lack self-awareness, making it difficult for them to interact and empathize with others.

A major challenge facing autism research is the lack of objective measures to characterize the disorder’s various phenotypes.

Pinpointing the specific molecular defects that cause autism is a key approach to developing appropriate treatments for the disorder.

Common variation in the human genome accounts for more than half of autism diagnoses.

The unusually high incidence of cranial and facial anomalies among people with autism may provide insight into the underlying biology of the disorder.

Recent studies have implicated a growing number of genes in the development of autism, but the candidates form a motley collection.

Autism is a spectrum of disorders that result in aberrant development and function of the nervous system.

Studies focusing on specific genes have made limited progress in unraveling the complex genetics of autism spectrum disorders.

Individuals with autism find it difficult to regulate their emotions and interact with others.

Genetics plays a major role in autism, but the relationships are complex and not well understood.