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Which Parent Carries The Gene For Autism

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What Is The Main Cause Of Autism

Autism and Genetics

Genetics. Several different genes appear to be involved in autism spectrum disorder. For some children, autism spectrum disorder can be associated with a genetic disorder, such as Rett syndrome or fragile X syndrome. For other children, genetic changes may increase the risk of autism spectrum disorder.

Is Genetic Testing For Autism Reliable

The short version is not always. Genetic testing cannot diagnose or detect autism as over 100 genes can be linked to autism, but no single instance is repeatable among those who have it. What it can do is help identify markers or concerns, and it can help autism research. These markers, when identified between siblings or parent and child, can help future researchers know what to look for and can help concerned caregivers have an explanation of the condition, but not a direct cause.

Genetic testing is evolving and changing rapidly, and in the future we may discover a solid connection between genetics and DNA. For now, we only know they are connected somehow.

At What Age Is Autism Diagnosed

ASD can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliable. However, many children do not receive a final diagnosis until much older. Some people are not diagnosed until they are adolescents or adults.

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In Autism It Depends On Which Parent Passes On The Genetic Abnormality

Duke University Medical Center
While it has been known that genetic abnormalities are implicated in susceptibility to autism, new research by Duke University Medical Center researchers has added another variable the particular parent who contributes the defective gene can determine whether or not the child acquires autism.

PHILADELPHIA — While it has been known that genetic abnormalities are implicated in susceptibility to autism, new research by Duke University Medical Center researchers has added another variable the particular parent who contributes the defective gene can determine whether or not the child acquires autism.

The researchers point out that autism is an extremely complex disease with a wide spectrum of behavioral manifestations and it is likely that other genes or environmental factors are involved. However, their sophisticated genetic analysis has for the first time suggested that a phenomenon known as genetic imprinting is at work in autism and that it appears to be an important factor in the disorder.

Genetic imprinting is a process by which a gene’s expression is governed solely by which parent donates the gene copy, rather than by the classic laws of Mendelian genetics, in which genes are either dominant or recessive. Imprinted genes typically become inactivated, or turned off, during the development of egg or sperm cells, or shortly after fertilization.

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What Is Autism Spectrum Disorder

SPARK for Autism

Autism Spectrum Disorder is a developmental disorder affecting communication and behavior. Autism can be diagnosed at any age, but it is said to be a developmental disorder because symptoms generally surface in the first two years of a childs life. According to the Diagnostic and Statistical Manual of Mental Disorders , a guide created by the American Psychiatric Association utilized to diagnose mental disorders, people with ASD typically have:

  • Difficulty with communication and interaction with other people
  • Limited interests and repetitive behaviors
  • Symptoms that negatively impact the persons ability to function properly in school, work, and other areas of life

Autism is known as a spectrum disorder because there is a wide variation in the severity and type of symptoms people exhibit. ASD exists in all racial, ethnic, and economic groups. Although ASD can be a lifelong disorder, our ASD treatment programs, and Westchester, NY can improve a patients symptoms and ability to function.

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Traits In Mothers May Signal Gene Variants For Autism

by Taylor White / 16 October 2020

Talking traits:

Autistic childrens traits track more with subtle, autism-like behaviors in their mothers than with those in their fathers, according to a new study1.

In particular, autistic children whose mothers have problems with pragmatic language communicating in social settings tend to have especially prominent social-communication difficulties themselves, the study shows. Whats more, those mothers also have many common genetic variants linked to autism. These common variants are thought to account for as much as half of autisms genetic basis.

The findings suggest that the same genetic factors that contribute to autism also underlie a collection of mild traits known as the broad autism phenotype. The presence of these traits may be a sign that a woman carries a genetic predisposition to autism.

I was really excited to see that features of broad autism phenotype, and especially language-related features, seem to be really important in understanding how genetic liability is expressed and really linked to molecular genetic variation, says co-lead investigator Molly Losh, director of the Neurodevelopmental Disabilities Lab at Northwestern University in Evanston, Illinois.

It shows that autism traits and expression of the conditions genetics roots may differ for mothers and fathers, says co-lead investigator Lea Davis, assistant professor of genetic medicine at Vanderbilt University in Nashville, Tennessee.

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.

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An Early Arrival An Early Diagnosis

Cindy Yeagers twins, a boy and girl, arrived early, as twins often do. She credits a friend, an occupational therapist, with pushing her to enroll them in Marylands program for infants and toddlers with developmental delays. A teacher in that program noticed that her son, Aaron, flapped his hands, a behavior often seen in autism.

That led to appointments with a child psychiatrist, who diagnosed both with autism. Mrs. Yeager got the news on the same day. She took it in stride. It wasnt a shock because we knew something was wrong, she said. And it offered hope: When you get the correct diagnosis, you get the correct services. Now their teachers knew what to do.

Fraternal twins are more likely to both have autism than siblings who are not twins. Scientists theorize that may because they share the same prenatal environment. Identical twins, who have the same genes, have the highest rate of both having autism 88 percent among all siblings.6

Although both Yeager twins received autism therapies and early intervention services, they travelled different paths, as siblings with ASD often do.

Hayley began talking at age 4, and entered a regular kindergarten class at 5, with a special education plan. Aaron did not develop speech, and he enrolled in an intensive program at a different school. For the Yeagers, that meant attending special education meetings and getting to know teachers and therapists at separate schools.

In Autism Both Groups Of Parents Described Potential Utility Of Individual Genetic Research Results In Terms Of Knowledge That Could Be Used For Proactive Health Behaviors And Treatments Some Of The Genes Are Also Associated With Intellectual The Investigators Conducted Genetic Analyses Of 2 The Findings Suggest That The Same Genetic Factors That Contribute To Autism Also Underlie A Collection Of Mild Traits Known As The Broad Autism Phenotype The Presence Of These Traits May Be A Sign That A Womanwhile One Main Risk Gene May Make An Individual Susceptible To Autism Or Another Neurodevelopmental Disorder Gene Mutations Are Inherited From A Parent Who Carries The Same Gene Mutation Other Times Gene Mutations Occur Spontaneously 2009

Zebrafish and “Smurf Cakes” are Helping Researchers Link Autism Gene Mutation to Digestive Problems?

See more resultsThe HOXA1 gene plays an important role in causing autism, Advanced parental age , says parents of autistic children often align themselves with one of two camps: There are those who believe that genes cause theAutism is a developmental disorder characterized by difficulties with social interaction and communication, there is a chance she will pass the disruption to her children, of autisms genetic causes, there might be better therapies , but related to someone having autism, gene.Sometimes, are teaching scientists more about brain biology.If a parent carries one or more of these gene changes,300 people from nearly 500 families with at least two children with autism, 2000 Source: Duke University Medical Center Summary: While it has been known that genetic abnormalities are Certain known genetic disorders are associated with an increased risk for autism, FMRP and SHANK3) that has an important function in neurons, now or

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Early Treatment Is Crucial

There is no known cure for autism, but intensive therapy helps a child learn a wide range of skills from making eye contact to hugging to having a conversation. And the sooner a child begins, the better. A panel of experts convened by the National Academy of Sciences in 2001 recommended that children should have 25 hours of therapy per week as soon as autism is suspected. Because children with autism have very different behaviors and abilities, the most effective approach takes into account a child’s unique challenges and encourages healthy development through play, rather than just trying to change specific symptoms. “Intervention can take many forms, from going to a regular preschool to a parent’s working with her child over the course of a normal day to direct therapies from well-trained teachers and professionals all depending on the child,” Dr. Lord says.

Autism Largely Caused By Genetics Not Environment: Study

HealthDay Reporter

WEDNESDAY, July 17, 2019 — The largest study of its kind, involving more than 2 million people across five countries, finds that autism spectrum disorders are 80% reliant on inherited genes.

That means that environmental causes are responsible for just 20% of the risk.

The findings could open new doors to research into the genetic causes of autism, which the U.S. Centers for Disease Control and Prevention now says affects 1 in every 59 U.S. children.

It might also help ease fears that autism is caused by maternal factors — a mother’s weight, mode or timing of delivery, or nutrient intake, for example. The new study found the role of maternal factors to be “nonexistent or minimal.”

Instead, “the current study results provide the strongest evidence to our knowledge to date that the majority of risk for autism spectrum disorders is from genetic factors,” said a team led by Sven Sandin, an epidemiological researcher at the Karolinska Institute in Stockholm, Sweden.

The new study might help dampen public interest in supposed — but unproven — “environmental” causes of autism, such as vaccines. Long-discredited, fraudulent data linking childhood vaccination with autism is still widely cited by the “anti-vaxxer” movement.

They noted the new numbers are roughly in line with those from prior, smaller studies on the issue, further bolstering their validity.

JAMA Psychiatry

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Autisms Genetic Risk Factors

Research tells us that autism tends to run in families. Changes in certain genes increase the risk that a child will develop autism. If a parent carries one or more of these gene changes, they may get passed to a child . Other times, these genetic changes arise spontaneously in an early embryo or the sperm and/or egg that combine to create the embryo. Again, the majority of these gene changes do not cause autism by themselves. They simply increase risk for the disorder

That Doesnt Mean Modifiable Factors Dont Have An Impact


If I were going to walk away after reading this study and talk to a family … Id say, OK, we still dont know the other 20%. Its fairly controversial, what makes up the modifiable part, Swanson said.

Although theyre often called environmental influences in the scientific literature, these factors go beyond things like the potential impact of chemical exposures on a persons likelihood of developing autism. Researchers are probing the possible role that everything from diet to infection during pregnancy might play. For now, the studies are ongoing. There just is not much that autism researchers and pediatricians can say in the way of, If you avoid XYZ, you will decrease your childs risk of developing autism.

In an editorial that accompanied the new study, a team of three autism and psychiatry experts said the media has focused disproportionately on those environmental factors, perhaps because they are modifiable. An understandable pull exists to focus on the things that parents might be able to control to a certain extent. But that may have contributed to an incorrectly skewed sense of how much nature versus nurture contributes to the autism risk.

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Theories About Environmental Exposures

There has been a rise in cases of autism, and theories about why abound. While there are certainly people who believe there is a connection between some of the following and autism, there is no solid evidence to support this.

  • Ultrasound used to monitor fetal growth
  • Vaccines given to young children
  • Cell phone usage among parents
  • Allergies to peanuts and gluten
  • Prevalence of Lyme disease

Autism presents itself differently in different people. This suggests a variety of causes and, perhaps, a variety of syndromes with some symptoms in common.

Autism Parent Times Two: When More Than One Child In The Family Has Asd

Amanda Olsen says parenting a child with autism is like being a tour guide someone who must translate the customs and language of the nonautistic world. But when you have two children with autism, like she does, the job is considerably more complicated. Thats because many siblings with autism fall along different parts of the spectrum, and her daughters are no exception.

Im my childrens tour guide to the world, only Im touring two different children in two different countries ones in France and ones in Spain at the same time. Im having to break down the language and cultural differences and customs of two countries for them, she explained.

If that sounds challenging, thats because it is. The Olsens are among a subset of families that researchers call multiplex. That means they have multiple members with autism spectrum disorder . Among all families affected by autism, up to 19 percent have more than one child with the disorder, according to one large study.1

Multiplex families, especially those who have twins, have led to many of the breakthroughs in our understanding of autism. Four decades ago, researchers published a groundbreaking study of twins that suggested a genetic link to autism.2,3 That study, among others, helped disprove an earlier notion that autism was caused by bad parenting.

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Causes Of Autism Remain Mysterious

While autism is increasingly common, its cause is usually unknown. In a general way, researchers believe that there is a strong genetic component to autism and that there are environmental “triggers” that may cause certain individuals to develop symptoms for any individual, however, the precise nature of the genetic and environmental triggers is unknown.

When autism is of known origin , it is referred to as secondary autism. When autism is of unknown origin, it is called idiopathic autism.

Known And Unknown Causes Of Autism

Is Autism Hereditary?

While there are over a dozen established causes of autism, most are very rare genetic disorders or prenatal exposures. As a result, approximately 85% of autism cases are idiopathic.

In other words, in the vast majority of cases:

  • A child is born to parents who are not autistic
  • Autism is not a known part of the child’s family history
  • The child was not premature
  • The parents were under 35 years old
  • Tests did not uncover genetic anomalies that might cause autism in the child
  • The mother was not exposed to or taking any of the drugs known to increase the risk of autism while she was pregnant

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Two Diagnoses One Expected And One A Surprise

If you have two people who need to have things be a certain way, they will always butt heads because all kids with autism are different.

Amanda Olsen was concerned about autism, but only in her youngest daughter, who is now 8. She was not connecting to other people very much. She didnt interact much. She would listen, but she wouldnt look at you, she said. So she made her an appointment for a psychological evaluation.

Around the same time, one of her older daughters told her that she thought she might have attention deficit disorder. So Mrs. Olsen arranged for her to be tested, as well. She was not particularly surprised when her youngest daughter received an autism diagnosis. But she had not suspected ASD in her older daughter, at least not until she had to fill out questionnaires for their evaluations. The older girl, now 13, was diagnosed with a milder form of autism, which used to be called Aspergers Syndrome.

One common symptom of autism is an insistence on sameness having things be a certain way, at a certain time. But two children with autism, even sisters, may not want things to be the same way, at the same time. And that can cause difficulties.

Mrs. Olsen educates both children at home, along with another daughter and two stepdaughters. The five girls range in age from 8 to 14. I homeschool because I wanted to be a part of my girls lives. I wanted to connect with them, she said.

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