Research: Funded Projects

The goal of this project was to increase awareness of the need for brain tissue donation for autism research, and to thereby increase the number of people registered …

Functional gastrointestinal (GI) symptoms have been frequently reported in children with autism spectrum disorders (ASD).

Autism is a heterogeneous brain disorder believed to have both genetic and environmental contributions.

Deletions on chromosome 16 at the 16p11.2 region result in autism in a small portion of the general population.

Mutation in many different genes has been found in individuals with autism, suggesting that there are many different ways to trigger the disorder.

Abnormalities in brain development associated with autism may be caused by abnormally high activity of the beta-catenin signaling pathway.

Several lines of evidence implicate the adult stem cell-containing subependymal zone (SEZ) in autism spectrum disorder (ASD).

Autism spectrum disorders represent a challenge for geneticists because of the heterogeneity of causes.

There are two emerging themes in research on genetic factors contributing to autism.

Males are four to five times more likely to have autism than are females.

Cognitive and behavioral impairments in autism spectrum disorders are thought to result from changes in the structure and function of brain circuits.

To understand the neurobiology underlying autism spectrum disorders, more data at the cellular level are needed.

The 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 …

Chromosomal 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 …

Autism has strong genetic origins, but neither common nor rare gene variants explain the majority of cases.

Although 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.

Autism encompasses a range of cognitive and behavioral characteristics, and studies suggest that certain genetic abnormalities are common in individuals with autism.

Autism spectrum disorders share common features of impaired social relationships, impaired language and communication, repetitive behaviors and a limited range of interests.

Many 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.

A hallmark of autism spectrum disorders is impaired social interactions.

The term ‘autism spectrum disorder’ exemplifies the tremendous heterogeneity in this neurodevelopmental disorder at both the clinical and underlying genetic levels.

Contactin-associated protein-like 2 (CASPR2, encoded by the gene CNTNAP2) is a cell adhesion molecule that is essential for proper neuronal function.

Abnormal brain wiring during early development may be a causal factor in autism spectrum disorders.

Stelios 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.

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Autism 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 …

Genetic factors are thought to play a major role in the occurrence of autism.

Some 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 …

Growing 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.

A newly discovered genetic condition called TMLHE deficiency results in the loss of the ability to make carnitine in the body.

Children 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 …

Growing evidence links errors in genetic control to autism.

Electrical signals in neurons rely on the proper function of voltage‐gated sodium channels.

Functional connectivity in the brain refers to the synchronization of neuronal circuits to transfer information within and between the circuits.

Autism can be caused by a number of different genetic alterations, some of which result in known syndromes.

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Angelman 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.

Dennis Wall and his colleagues used machine learning to study gold-standard instruments used for assisting the diagnosis of autism.

Certain gene mutations can compromise normal protein functioning, leading to heritable diseases.

The most common genetic cause of autism is the deletion or duplication of a small region of human chromosome 16.

A 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 …

Angelman 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.

Despite tremendous efforts to genetically and phenotypically characterize individuals with autism, we are still at the earliest stages of understanding how autism occurs.

A hallmark symptom of autism spectrum disorders is impairment in social interactions, yet little is known about the neural mechanisms underlying this deficit.

Motor stereotypies, a core feature of autism, are involuntary, repetitive movements that are often associated with self-injury.

A hallmark of autism is impairment in reciprocal social interaction, including inadequate eye contact and failure to recognize emotions.

In daily life, people often experience activation of multiple sensory systems at the same time.

Perturbed neuronal arborization, or branching, and defects in long-range connectivity are likely to be shared mechanisms in many forms of severe autism.