Autism represents a diverse group of medical conditions that share similar behavioral symptoms. These symptoms include reduced social interaction, reduced communication and increased repetitive behaviors. Autism is not a medical diagnosis. It could be compared to a container that holds many diseases in it. It is not uncommon for different diseases have similar symptoms. For example, a fever could be caused by a viral infection but it could also caused by a bacterial infection. Treatment of a viral infection with antibiotics would be ineffective. On the other hand, not treating a bacterial infection with antibiotics would be detrimental. Autism treatment success depends a great deal on finding the specific medical cause and treating it, if possible.
Most clinical cases of autism are associated with pathogenic mutations in several hundred genes. About 20% of these mutations are not inherited from parents but occurr in a child for the first time (de novo).
Diagnosing ASD in adults is more difficult than diagnosing ASD in children. This is because in adults, some ASD symptoms can overlap with symptoms of other mental-health disorders, such as anxiety, depression or bipolar disorder.
Adults who experience difficulties with
- Social interaction and communication challenges
- Sensory issues
- Repetitive behaviors
- Restricted interests
can be referred to a neuropsychiatrist, psychologist, or a general psychiatrist who has experience with ASD.
Information about the adult’s developmental history will help in making an accurate diagnosis, so an ASD evaluation may include talking with parents or other family members.
Autism symptoms arise from DNA variants in genes responsible for nervous system development and function. These variants may be inherited or appear anew.
Most common comorbidities are seizures, intellectual disability, psychiatric symptoms such as anxiety or depression, sleep disturbances and gastrointestinal symptoms.
The American Association on Intellectual and Developmental Disability defines ID by using measures of 3 domains: intelligence (IQ), adaptive behavior, and systems of supports afforded the individual. More recently, the term ID has been suggested to replace “mental retardation.”
Antipsychotics aripiprazole (Abilify®) and risperidone (Risperdal®) are the only medications that have been approved by the US Food and Drug Administration (FDA) for treatment of irritability in children with ASD.
However, these medications have serious metabolic side effects that are of concern. In our clinic we use pharmacogenomics (PGx) to guide medication selection. Research has shown that PGx reduces side effects, improves medication effectiveness and increases patient satisfaction and adherence.
Many Inborn Errors of metabolism or IEMs are potentially treatable by nutrient or vitamin supplementation, or withdrawal of certain nutrients.
Recently several small studies of sulforaphan, tetrahydrobiopterin, L-carnitine and methyl B12 found that these nutraceuticals may be useful in ASD patients whose symptoms were associated with oxidative stress (Singh et al., 2014, Klaiman et al., 2013, Fahmy et al., 2013, Hendren et al., 2014)
At this time, Whole Exome and Whole Genome DNA sequencing are the only tools that can accurately identify the majority of IEMs and help to select treatments.
Yes, we can but it is important to keep in mind that these platforms are designed to identify common variants, which may be associated with an individual's geographic ancestry.
Our platform and algorithms are designed to identify pathogenic variants that are most likely to be disease causing and are very rare by definition.
WES covers only protein coding genes, which is about 1% of the entire genome. WGS covers the entire genome and provides a greater accuracy and higher diagnostic yield. However, most diseases are believed to be associated with pathogenic variants in protein coding genes, which can be successfully identified by WES at a much lower cost.
No, we are not. We can analyze DNA data obtained by any laboratory as long as these data are not corrupted and are presented to us in one of the standard formats, which are fastq, bam or vcf files.
- your primary care physician notes
- all specialist reports
- all laboratory test results
- all imaging reports and images (if available)
- all diagnostic test (such as neurocognitive etc.) results
- all the medications that have been ever prescribed
- all the medications that the patient is taking
- all supplements
- anything else that you believe might help us to understand the condition.
At MoodNote we focus on pathogenic variant discovery and provide users with physician or other healthcare provider-ready report. Most other DNA data services do not distinguish between pathogenic and common variants. This may result in healthcare providers being overwhelmed with the abundance of data of no or unknown significance.
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons – humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.
The goal of this approach is to identify genetic variants that alter protein sequences, and to do this at a much lower cost than whole-genome sequencing. Since these variants can be responsible for about 85% of all (both Mendelian and common polygenic) diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic tool.
