Welcome Parents, Families, and Caregivers

Thank you for taking the time to visit my website. I value the opportunity to work closely with parents to improve the lives of their children and their families. Neurodevelopmental disorders are highly complex and individualized. I believe strongly in the need for a personalized approach to medicine when treating children.

Below you will find a collection of resources that explain the ongoing research and clinical treatments for neurodevelopmental disorders. This information is provided for general purposes and is not a substitute for professional advice. Before taking any actions based upon information, please consult with your child’s physician.

Autism Parents

Popular Articles

Central Folate Abnormalities

from Autism File

Central Folate Abnormalities

Seizures and ASD

from The Journal of Autismone

Seizures in ASD

from Autism File

Cerebral Folate Deficiency in ASD

from The Journal of Autismone

Mitochondrial Dysfunction in ASD

from Autism File

Mitochondrial Dysfunction

from The Journal of Autismone

Beyond Behavioral Evaluations

from Autism File

The Healthy Child Guide

from Neurological Health Foundation

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Folate Metabolism in Autism Spectrum Disorder

Folate receptor α (FRα) autoantibodies (FRAAs) are prevalent in autism spectrum disorder (ASD). They disrupt the transportation of folate across the blood-brain barrier by binding to the FRα. Children with ASD and FRAAs have been reported to respond well to treatment with a form of folate known as folinic acid, suggesting that they may be an important ASD subgroup to identify and treat.

Environmental Factors in Autism

Genetic abnormalities in autism spectrum disorders (ASD) are widely-accepted; however, recent studies point to an equal contribution by environmental factors, particularly environmental toxicants. New publications investigating potential associations between environmental toxicants and ASD examine the estimated toxicant exposures in the environment during the preconceptional, gestational and early childhood periods; look for biomarkers of toxicants; and examine potential genetic susceptibilities to toxicants.

Seizures and Epilepsy in Autism Spectrum Disorder

Seizures are very common in individuals with autism as are abnormal electroencephalogram recordings with seizure-like activity. Additionally a diagnosis of epilepsy is found in up to 40% of children with autism and, in many cases, is refractory to treatment. The pathology that causes epilepsy also has been implemented in children with autism.

Immune Dysfunction in Autism

Recent studies suggest that ASD is associated with immune system dysfunction. In individuals with ASD, inflammatory cytokines are often elevated in the blood and brain. Children with ASD sometimes have autoantibodies to brain tissue as well as to non-brain tissue such as the folate receptor alpha (FRα) and mitochondria. Another recent area of interest is in the overlap between ASD and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infection (PANDAS) and Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS).

Redox Metabolism Abnormalities in Autism

Autism is associated with an imbalance in glutathione-dependent redox metabolism. Glutathione synthesis and intracellular redox balance are linked to folate and methylation metabolism, metabolic pathways that have also been shown to be abnormal in ASD. Together, these metabolic abnormalities define a distinct ASD endophenotype that is closely associated with genetic, epigenetic and mitochondrial abnormalities, as well as environmental factors related to ASD. Biomarkers that reflect these metabolic abnormalities have recently been investigated to find ASD metabolic endophenotype that may lead to a better understanding of the pathophysiological mechanisms underlying core and associated ASD symptoms and may lead to new treatments.

The Role of the Microbiome in Autism

Increasing evidence suggests that the enteric microbiome plays a critical role in the etiology and symptomatology of ASD, at least in some cases. To better understand this connection, the International Symposium on the Microbiome in Health and Disease has been organized to focus on novel approaches for studying and manipulating the enteric microbiome to improve autism symptoms. From this meeting a special issue of Microbial Ecology in Health and Disease was published. We have also investigated the clinical and basic research aspects of enteric microbiome metabolites on mitochondrial function.

Mitochondrial Function in Autism Spectrum Disorder

Abnormalities in mitochondrial function appear to affect a significant number of children with autism spectrum disorder (ASD) but the nature of these abnormalities is poorly understood. Through critical literature reviews, clinical research and basic research, my team and I have investigated the nature of mitochondrial abnormalities in ASD. Our recent research suggests the nature of mitochondrial dysfunction in ASD is distinct from other forms of mitochondrial disease in its metabolic nature and with respect to molecular signaling pathways. We have developed a model of mitochondrial dysfunction related to ASD based on cell lines to allow us to study it in the laboratory in detail.

mRNA in Autism Spectrum Disorder

Mutations in hundreds of different genes contribute to to the risk of Autism spectrum disorder (ASD). Studies have shown that significant differences in the ASD-associated miRNA expression profiles are found in a variety of target tissues (e.g., saliva, blood, serum and brain). In some studies, significant dysregulation of specific miRNAs has been found in lymphoblastoid cell lines (LCLs) of ASD patients compared to their typically-developing siblings and controls. Overall, these findings suggest that mRNA and miRNA expression profiles in ASD reveal numerous miRNA–gene interactions that regulate critical pathways involved in the proliferation of neuronal cells, cell death of immune cells, and neuronal development. This is a promising area for future discoveries and possible treatments.

Neuroimaging in Autism Spectrum Disorder

Neuroimaging has uncovered connectivity abnormalities in the brains of individuals with autism spectrum disorders (ASD). The precise connectivity abnormalities and the relationship between these abnormalities and cognition/ASD symptoms is unknown. Functional magnetic resonance imaging and other advances in neuroimaging may have clinical utility as non-invasive ways to investigate these neurochemical alterations in ASD. MRI provides dynamic insight into the functional organization of the brains’ activity and measures the function of neurotransmitter-driven networks. New applications of neuroimaging can help us evaluate treatments for patients with ASD and other neurodevelopmental disorders.

Treatments for Autism

Despite the fact that the prevalence of autism spectrum disorder (ASD) continues to rise, no effective medical treatments have become standard of care. As the pathophysiological abnormalities associated with ASD are studied, we hope that these revelations lead to associated treatments. Treatments targeting some of the abnormalities seen in ASD including neurotransmitter abnormalities, particularly imbalances in glutamate and acetylcholine, sleep onset disorder (with behavioral therapy and melatonin), and metabolic abnormalities in folate, cobalamin, tetrahydrobiopterin, carnitine, and redox pathways are being investigated. There is some evidence for treatments of epilepsy and seizures, mitochondrial and immune disorders, and gastrointestinal abnormalities, particularly imbalances in the enteric microbiome, but further clinical studies are needed in these areas to better define treatments specific to children with ASD. There are some promising areas of ASD research that could lead to novel treatments that could become standard of care in the future.

Links Based on Resource Type

A collection of publicly available video-recorded presentations and interviews.

A collection of radio interviews, podcasts, and audio versions of articles.

Links to articles, abstracts, and full-text journal publications (when available)

Published stories featuring my patients and their journeys.

Stories about my research published in various media outlets and publications.

Please consult with your physician before making any medical decisions.

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