New Technology Reveals New Gene Ties To Autism
Study authors, led by Amy B. Wilfert, Ph.D. from the University of Washington, say new technology and dropping costs on genetic research have allowed them to gather information of thousands of genes from people with autism and their relatives. Researchers analyzed nearly 11,000 people with autism to identify the new mutations which pass from healthy parents to children on the autism spectrum.
The team notes most autism genes discovered to date come from research on de novo mutations. These are genetic variations that first develop in a person with autism and are not present in their parents genes at all. The new findings reveal that rare inherited variants which lead to autism are likely in a different batch of genes from the ones de novo mutations affect.
While most autism studies focus on de novo mutations, this study focuses on rare inherited mutations, which are often understudied in autism, says Dr. Wilfert in a media release. We find that these variants are individually less damaging than de novo mutations but have the potential to contribute almost as much risk and impact the same molecular pathways, through a distinct set of genes. These variants, however, are only able to persist in the general population for a few generations before being selected out by evolution.
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Does Autism Run In Families
Studies have shown that autism is predominantly a genetic disorder, with 40-80% heritability.
While researchers are still working to identify all of the genes associated with autism, they do know that some genetic mutations can increase your risk of developing autism.
If you have a family member with autism, you may want to consider talking to your doctor about getting screened for genetic mutations that could put you at higher risk.
Children in families with a history of other mental conditions like ADHD, schizophrenia, and bipolar disorder are also at a higher risk for developing autism.
According to an article on Spectrum News, Children who have a first-degree relative a sibling or parent with a brain condition other than autism have up to 4.7 times the odds of having autism and up to 7.6 times the odds of having both autism and intellectual disability.
Are There Physical Signs Of Autism
People with autism sometimes may have physical symptoms, including digestive problems such as constipation and sleep problems. Children may have poor coordination of the large muscles used for running and climbing, or the smaller muscles of the hand. About a third of people with autism also have seizures.
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How Is Asd Diagnosed
Diagnosis of ASD is based on clinical criteria, the most recent of which are found in the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition . A child may first be brought to attention following routine screening using a tool such as the validated Modified Checklist for Autism in Toddlers-Revised .
Can Autism Be Detected During Pregnancy
It may be possible to determine if an unborn baby has a higher chance of being autistic. CMA testing can be done in both prenatal and postnatal settings.
When clinicians perform a CMA test during pregnancy, they obtain a sample of the amniotic fluid using an amniocentesis guided by an ultrasound. The amniotic fluid contains the babys genetic material, which they assess with the CMA test.
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Mega Studies To Understand Autism
What is amazing is that to be able to identify the sheer number of genetic markers that could be influencing autism development, studies that include literally thousands of patients with autism are currently taking place! A major such endeavour is SPARK, which aims to collect data on 50,000 families with more than 25,000 families already enrolled and more than 10,000 autistic children already DNA tested. Such extremely large studies allow the discovery of even very rare contributing factors to the disease with a significant statistical power. It is such large studies, costing millions of dollars, that help to shape the medical understanding of genetics, and continuously grow the power of DNA sequencing interpretation as it relates to human health. Once you sequence your genome, you could in theory be re-interpreting it for the rest of your life .
Here is how SPARK breaks down the different types of genetic factors contributing to autism.
Adapted SPARKforautism.org
Ohsu Supports Research Collaboration Identifying Genes Linked To Autism
A new study supported by OHSU researchers has identified a group of genes that contribute to autism primarily through inherited variants, allowing for a better understanding of a broader range of conditions across the autism spectrum.
The findings, published this month in Nature Genetics, advance knowledge of the complex genetics of autism. Researchers used data from the SPARK research cohort, which includes genetic data from nearly 43,000 people with autism the largest cohort to date.
Expanding our understanding of the genetic influences of autism is crucial, and were now beginning to look at things from a gene-first perspective, as opposed to only considering behavioral components, said Brian ORoak, Ph.D., associate professor of molecular and medical genetics in the OHSU School of Medicine, whose team supported data analysis efforts for the study. If we can identify on a cellular level how these risk genes operate and alter development, we can learn how brains work differently and provide better treatment and support for individuals on the spectrum.
Understanding these genetic influences can help identify different sub-types of autism, which can present with similar history, development patterns and behavioral conditions. Furthering research in this area can improve tracking of these sub-types and help to create a network of people in the autism community who can share resources and provide support, ORoak said.
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If My Older Child Is Diagnosed With Asd What Are The Chances Any Other Children Would Have Autism
Parents may take genetic tests to determine if their defective gene was passed on and led to their child developing autism. Research conducted at Duke University Medical Center found that this happens through a process called genetic imprinting.
Genetic imprinting goes against the typical laws of Mendelian genetics where genes are either recessive or dominant. In genetic imprinting, genes become turned off shortly after fertilization, or during the development of egg or sperm cells.
Imprinting affects a genes development, and through testing, genetic specialists can trace the pattern of inheritance of a disorder between parent and child.
What Causes Autism Spectrum Disorder
Although the cause of ASD is known in some people and not known in others, genetics, biology, and environment are all important factors. Having older parents, a difficult birth, or infections during pregnancy are all examples of factors that might increase the risk for having ASD. Beyond these factors, certain people are at higher risk than others. For example, ASD is four times more common in males than females. People with certain genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Down syndrome, are more likely to have ASD.
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Does An Autism Gene Exist
Experts say that autism can be inherited through more than a hundred genes. However, experts also claim that there are no specific genes encoded for ASD. Most of these genetic sequences are considered very important to undergo the association between neurons or control the remaining genes’ expressions. Meaning that autism is not associated with mutations in a single genetic sequence. It is hypothesized that thousands of genetic mutations may contribute to a child developing autism. Hence, no specific mutation or change in the DNA sequence can be termed “an autism gene.” Furthermore, not every child carries the same mutated gene that causes autism.
How Genetic Testing For Autism Can Help
Genetic testing for autism may be able to identify the risk of autism spectrum disorder in children. Genetic tests can be performed on a child as early as newborns.
For example, studies have found that genetic variants in the EN2 gene may increase a persons risk of autism by more than 40 percent. The EN2 gene is essential for the proper development of the brain. Changes within the EN2 gene, known as genetic variants, can lead to abnormal brain development that increases the risk of ASD.
Genetic testing may be able to identify genetic variants in the EN2 gene that may impact the functioning of the EN2 gene and the normal development of the brain.
While genetic testing can be used to evaluate genes associated with ASD, we still have a lot to learn. Unlike breast cancer risk and Alzheimers risk, researchers have not yet identified a single autism gene. This makes genetic testing for ASD more difficult than other conditions since there is no single gene to test.
Its also clear from genetic research that many of the genes related to ASD have not yet been discovered. Because of this, genetic testing for autism only screens for the small number of genes known to be associated with rare causes of ASD.
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Is There A Genetic Test For Autism
Many patients and families in the autistic community are already aware that the diagnosis of autism spectrum disorder is made after a detailed evaluation with neurodevelopmental specialists. Genetic testing cannot diagnose someone with autism, but it could help a family understand how or why someone has autism.
For about 10%-20% of people with ASD, an underlying genetic cause can be found.
But the word genetic can mean a lot of different things! Sometimes autism can be from a large genetic change, like missing piece of a chromosome. Sometimes it can be a very small change, like a single letter difference in the DNA.
Treatment For Your Child With Autism
At Therapeutic Pathways, our therapists and behavior technicians follow the most up-to-date practices extensively researched and backed by leaders in the scientific community. After your child has been diagnosed with an autism spectrum disorder, come to Therapeutic Pathways for individualized treatment. We provide family training and support as well as comprehensive Applied Behavior Analysis treatment for children, adolescents, and adults.
For more information, call 422-3280.
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What Role Do Genes Play
Twin and family studies strongly suggest that some people have a genetic predisposition to autism. Identical twin studies show that if one twin is affected, then the other will be affected between 36 to 95 percent of the time. There are a number of studies in progress to determine the specific genetic factors associated with the development of ASD. In families with one child with ASD, the risk of having a second child with the disorder also increases. Many of the genes found to be associated with autism are involved in the function of the chemical connections between brain neurons . Researchers are looking for clues about which genes contribute to increased susceptibility. In some cases, parents and other relatives of a child with ASD show mild impairments in social communication skills or engage in repetitive behaviors. Evidence also suggests that emotional disorders such as bipolar disorder and schizophrenia occur more frequently than average in the families of people with ASD.
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What Are The Symptoms Of Autism
Autism usually develops before 3 years of age and affects each individual differently and to varying degrees. It ranges in severity from relatively mild social and communicative impairments to a severe disability requiring lifelong parental, school and societal support.
The hallmark symptom of autism is impaired social interaction. Children with autism may fail to respond to their name and often avoid eye contact with other people. They have difficulty interpreting what others are thinking or feeling because they don’t understand social cues provided by tone of voice or facial expressions and they don’t watch other people’s faces to pick up on these cues.
Many children with autism engage in repetitive movements such as rocking, spinning, twirling or jumping, or in self-abusive behavior such as hand biting or head-banging.
Of children being diagnosed now with an autism spectrum disorder, about half will have intellectual disabilities defined by nonverbal IQ testing, and 25 percent will also develop seizures. Though most children show signs of autism in the first year of life, about 30 percent will seem fine and then regress in both their language and social interactions at around 18 months of age.
About 30 percent of children with autism have physical signs of some alteration in early development such as physical features that differ from their parents , small head size or structural brain malformations.
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What Autistic People Have To Say
Through our Stories from the Spectrum series, weve spoken to several autistic people, who have shared their thoughts on this topic, what being autistic is like for them, and some of the positive aspects of being autistic.
“I just seem to see and think about people and the world in a different way. It’s part of who I am.” John Clark
John Clark, autistic filmmaker, told us:“I just seem to see and think about people and the world in a different way. For instance, I am both confused and fascinated by idioms. Its part of who I am. I used to be very self-conscious about people liking and accepting me, but now, I just think, take me or leave me. Were all different. Some people seem to find live and let live a difficult mantra to grasp though.”
Patrick Samuel, autistic artist and musician, said: “My autism makes it easy for me to do things a lot of non-autistic people may struggle with. I work intensely when Im painting, writing, composing or doing anything creative. I think being autistic also contributes to my aptitude in problem solving and pattern recognition, which can help me research a highly specialised subject and give talks on it.”
Genetic Tests For Autism Can Sometimes Change Lives
The assays dont always yield results, but the information they offer can, at times, alter the course of treatment or prevention
Almost as soon as James was born in April 2003, it was clear that he was not well. When he failed a newborn screening test and was struggling to breathe, he was sent straight from the delivery room to the neonatal intensive care unit. Doctors there suspected he had a genetic condition, but genetic testing, such as it was 15 years ago, yielded no answers. So nine days later, James mother, Angela, took him home.
As an infant, James struggled to eat and never slept for more than 20 minutes at a time, but Angela attributed these things to his being a newborn and to the stress of their cross-country move. He didnt sit unassisted at 1 year or crawl until he was 18 months old, but doctors and friends reassured her he was fine. When James was 14 months old, a physical therapist acquaintance took one look at the child and told Angela he clearly had some sort of developmental delay. But even the specialists she then took her son to see dismissed his loud squeals, hand-flapping and tendency to ignore others as consequences of his poor hearing. He was finally diagnosed with autism at age 4.
Even so, most autistic people and their families never gain access to that information: In the United States, roughly one in three children with autism is offered genetic tests.
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Where Can I Find More Information
Your physician or nurse practitioner can help to answer any questions you have. Genetic counselors are also available through the laboratories that perform these tests. Additional information can be found in these publications:
Ellison, JW, et al. Clinical Utility of Chromosomal Microarray Analysis. Pediatrics. Volume 130, Number 5. November, 2012. Pages e1085-e1095.
Johnson, CP, et al. Identification and Evaluation of Children with Autism Spectrum Disorder. Pediatrics.Volume 120, Number 5. November, 2007.
Schaefer, GB and Mendelsohn, NJ. Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders. Genetics in Medicine. March, 2013.
Most Genetic Conditions Do Not Have A Specific Cure Or Treatment But There May Be Other Benefits To Having That Information
Knowing that a child has a particular genetic change may alert healthcare providers to test for other conditions that may go along with it.
For example, changes in SCN2A, a gene associated with autism, could influence the type of epilepsy medication the person takes.
Also, families may learn about what to expect in the future, if that information is available.
If a diagnosis is made related to genetics, there are generally support groups or organizations of other individuals with the same genetic change. It helps to be able to connect with those individuals or families to share information.
Some parents also want to know if they share their child’s genetic change, and whether they could pass it to other future children.
Ruling out genetics also means that focus can be redirected to environmental factors. This may include exposure to pollution, pesticides, and hazardous chemicals.
Other factors may include the age of parents when they conceive a child a pregnant woman’s medical conditions , illnesses and nutrition and events that happen at and after a baby’s birth.
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How Much Does A Brca Gene Test Cost
BRCA testing is usually covered by insurance if certain criteria are met. There are different types of BRCA testing, ranging in cost from $475 to about $4,000. Genetic counselors are helpful in determining what type of testing is indicated. Testing is less expensive once a mutation has been identified within a family.
What Can My Patient Expect At A Genetic Consultation For Autism Spectrum Disorder
The role of a clinical geneticist is to identify the etiology of the ASD where possible, with the hope of improving management of the individual and providing genetic counselling for the family9. A clinical genetics consultation includes a review of the patients prenatal, perinatal, medical and family histories, and a physical examination to document growth parameters and look for evidence of dysmorphic features1.
The Canadian College of Medical Geneticists recommends that chromosomal microarray and fragile X syndrome testing be the first tier laboratory investigation for any male or female whose ASD and/or other developmental disability is unexplained after a thorough history and physical examination10. Second tier investigations may be guided by presentation. Clinical geneticists may ofter genetic testing for a single gene syndrome or a next-generation sequencing panel which could include tens to thousands of genes.
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