Some Mutations Tied To Autism May Be Passed Down From Fathers
The findings go against previous studies that suggest mutations are inherited from mothers
Some children with autism carry rare mutations in DNA segments that flank genes and control their expressionand they tend to inherit these mutations from their unaffected fathers, according to a study published today in Science1.
The finding is unexpected because most studies implicate mutations inherited from mothers in autism risk. For this reason, some experts are skeptical of the results.
The study is the largest yet to explore how mutations outside of genes contribute to autism: It is based on an analysis of 9,274 whole genomes. And it focuses on structural variantsdeletions or duplications in DNAin these noncoding regions. Once dismissed as junk DNA, some of these regions are now known to control the expression of genes.
These are the types of variants which, before, if you did clinical genetic testing, you would ignore, says lead investigator Jonathan Sebat, chief of the Beyster Center for Genomics and Neuropyschiatric Diseases at the University of California, San Diego.
The variants overall account for only a small proportion of individuals with autism, however: an estimated 0.39 to 1.13 percent.
Can A Mother Keep The Child Away From The Fathe
Depending on the specific child custody order, the mother has no right to remove visitation rights from the childs father without court interference. However, if there is evidence of family violence caused by the father, then a mother may seek to prevent the father from seeing the child through a child protection order.
How Can I Find Out If My Childs Case Is Genetic Can We Tell Which Side Of The Family The Autism Came From
Experts maintain that the cause of autism is largely genetic they attribute about 80% of the risk to inherited genes, leaving only 20% to environmental factors. This is a monumental finding for the causation and treatment for autism spectrum disorder , but much is left to be discovered.
Because no single gene causes autism , there are no genetic tests available to diagnose autism. Many different changes and mutations in a persons genes can lead to them developing autism. However, a genetic test can explain why your child developed ASD, as well as other information that could benefit your family.
If your child has been diagnosed with ASD, our therapists and behavior specialists at Therapeutic Pathways will help them develop and strengthen their social, emotional, and intellectual skills to improve their quality of life.
We are involved in the scientific community and follow the latest research involving genetics and the role they play in autism. Our approach at Therapeutic Pathways is to use evidence-based autism treatment that will help your child live a satisfying and well-rounded life.
Please call 422-3280 or contact us for more information.
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What Causes Autism: 6 Facts You Need To Know
There are lots of frightening rumors about what causes autism, a mysterious brain disorder, in children. We asked leading experts across the country to get you answers.
Nancy Wiseman had a feeling early on that something wasn’t quite right with her daughter. When Sarah was 6 months old, she stopped babbling, and by 10 months, she was silent. By 18 months, the increasingly aloof toddler no longer responded to her name, and she resisted being held, kissed, or touched. “I felt that I was losing my child a little more each day,” says Wiseman, of Merrimac, Massachusetts. When Sarah wasn’t saying any words or even making sounds that resembled words by 20 months, her grandmother, a school psychologist, suspected that the girl might actually be deaf. Instead, Wiseman was devastated to learn that her daughter had autism. “The diagnosis really knocked the wind out of me,” she recalls, “but I was relieved to finally know what was wrong.”
There are many unanswered questions,” says Alice Kau, Ph.D., an autism expert at the National Institutes of Health, which funded more than $74 million in autism research in 2002, as compared with only $22 million in 1997. Still, researchers are beginning to make progress in unraveling this baffling disorder, and the number of resources available for families is increasing. Here, six facts about autism that every parent should know.
Large Head Size Is A Red Flag
Recent findings published in the Journal of the American Medical Association suggest that the brains of children with autism develop differently from an early age. Researchers discovered that most infants who were later diagnosed with autism had small head circumferences at birth but had heads and brains much larger than normal by 6 to 14 months. “Some of them went all the way up to the 90th percentile in just a few months,” says study coauthor Natacha Akshoomoff, Ph.D., an assistant professor of psychiatry at the University of California, San Diego. Those who ended up with the most severe form of autism were found to have the most dramatic acceleration of brain growth during infancy.
Pediatricians don’t always measure head circumference at well-baby visits, so it’s wise to request it. However, don’t panic if your baby’s head size is above the norm. Some babies just have big heads. “Rapid head growth is not a way to diagnose autism,” Dr. Akshoomoff points out, “but it means that a child should be watched closely to be sure that she meets speech and behavioral milestones.”
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Genetic Testing And Autism Spectrum Disorder
If your child is diagnosed with ASD, the doctor might refer your child for genetic counseling and testing.Genetic testing looks for causes of ASD but cannot be used to diagnose ASD. Some people with ASD have syndromic ASD, meaning that they have other specific features in addition to having ASD, such as looking different from other people in the family or having birth defects. Most people with syndromic ASD have a genetic cause for their ASDexternal icon.
Genetic testing is more likely to find a genetic cause for ASD if
- Your child or another family member has syndromic ASD
- A family member has an ASD-related genetic change found through genetic testing or
- Multiple family members have ASD.
The most commonly ordered test for people with ASD is called a chromosomal microarray . This test looks at chromosomes to see if there are extra or missing parts that could cause ASD. CMA finds a genetic cause in 5% to 14% of people with ASDexternal icon who have the test.
In addition, children with ASD should be checked for genetic disorders that can cause ASD, including the following:
- Rett syndromeexternal icon: This disorder mainly affects females. About 4% of females with ASD have Rett syndromeexternal icon. Rett syndrome testingexternal icon should be considered for females with ASD.
Where Can I Get More Information
For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institutes Brain Resources and Information Network at:
Office of Communications and Public LiaisonNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patients medical history.
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Can You Outgrow Autism
Summary: Research in the past several years has shown that children can outgrow a diagnosis of autism spectrum disorder , once considered a lifelong condition. In a new study, researchers have found that the vast majority of such children still have difficulties that require therapeutic and educational support.
Is Adhd Dominant Or Recessive
Attention deficit hyperactivity disorder In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
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Is Autism A Schizophrenic Childhood
Autism was originally described as a form of childhood schizophrenia and the result of cold parenting, then as a set of related developmental disorders, and finally as a spectrum condition with wide-ranging degrees of impairment. Along with these shifting views, its diagnostic criteria have changed as well.
Is Autism Genetic Or Hereditary
The heritability of autism spectrum disorder is the proportion of differences in the expression of autism that can be explained by genetic variation. If the heritability of a condition is high, then we can consider the condition as a primarily genetic. Genetic factors occupy the most important place among the causes of autism spectrum disorder.
In todays world, it is not known what exactly causes autism spectrum disorder, but there is evidence that it is genetically based. However, it is not yet known which gene or genes are responsible for this condition. There are opinions that environmental factors can also lead to autism. Numerous studies have been conducted on the effects of both genetic basis and environmental factors.
Autism is hereditary. The combination of genetic and environmental influences is known to cause autism. It is estimated that about 80 genes cause autism. Only a few of these genes have been found to date. Studies on this subject continue. Despite this, it is not yet possible to diagnose autism during pregnancy. Having a child with autism has nothing to do with how you raise them or what economic conditions you have. For this reason, autism spectrum disorders are observed in all kinds of societies, different geographies, races and families.
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This Is A Great Time To Parent A Child With Autism
I am grateful that we live in the times that we do. So much new information has been discovered about autism. We live in the age of the internet and I can connect with another autism mom who lives several states or even countries over and talk about our shared experiences. I am grateful to have things like iPads that not only help my son communicate but also gives us a chance to share a moment while watching one of his favorite YouTube clips. A tip of my cap to the families that went before us. They really helped pave the way for the benefits my son has now. I hope I can do the same for the ones coming behind us.
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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.
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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 ASDexternal icon. Beyond these factors, certain people are at higher risk than others. For example, ASD is four times more common in males than femalesexternal icon. People with certain genetic disordersexternal icon, such as fragile X syndrome, tuberous sclerosisexternal icon, and Down syndrome, are more likely to have ASD.
Samples Preparation Rna Extraction And Rt
Peripheral blood mononuclear cells from heparinized blood samples of all the individuals enrolled in the study were isolated by density gradient centrifugation and collected immediately after the separation. Pellets were frozen rapidly in liquid nitrogen and stored at 80°C until use . Total RNA was extracted from 0.8 × 105 PBMCs using NucleoSpin RNA kit according to the manufacturer’s instructions . Two hundred fifty nanogram of DNase-treated RNA were reverse-transcribed into cDNA using Improm-II Reverse Transcription System according to the manufacturer’s protocol, in a total volume of 20 l. The transcriptional levels of several HERV families and cytokines were assessed by Real-time PCR in the Bio-Rad instrument CFX96 Real-Time System, using SYBR Green chemistry . Specific pairs of primers for env of HERV-H, HERV-K, HERV-W , HEMO , and for cytokines expression were used .
where Ct = and Ct was the mean of CT of all the samples from healthy control children.
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Analysis Of The Association Among Hervs And Hemo Activity With Cytokines Expression
To investigate any association among HERV transcriptional activity and cytokines expression, we employed multivariate regression models, including child age, gender, and diagnosis as nuisance covariates. The analysis demonstrated that HEMO activity is negatively associated with TNF- in mothers irrespective of diagnosis, sex and age, while no other associations were found in children and fathers .5). Furthermore, only children and their mothers can be qualitatively distinguished as belonging to ASD or HC families by plotting HERV-H, HEMO, and HERV-W vs TNF-, IFN-, and IL-10 expression levels ,5), since high values of HERV expression correspond to high values of cytokines in patients and their mothers while the expression is low in the corresponding control individuals. Conversely, no distinct groups can be visually recognized when HERV-K expression was plotted against cytokines expression .
Scatter plots of HERV-W and HERV-K vs. cytokines expression levels. Dots depicted in white and black for members of HC and ASD families, respectively.
Apgar Scores & Awareness
Women over the age of 35 are at higher risk of having prolonged labor, premature deliveries, or breech deliveries . Furthermore, giving birth after 35 can result in babies with low APGAR scores, which is a test to determine the babys heart rate, muscle tone, and other vital signs to check if the baby needs further medical or emergency care. The APGAR test is done one minute after birth, and again, five minutes after birth.
Researchers have also noted that older parents might have more awareness of autism . Therefore, they might be more likely to go to a doctor if they notice their child is not developing as expected. Education levels and socioeconomic statuses are also factors in women over 30 having access to diagnostic and treatment services for their children.
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Reflections On Parenting With Autism
Jessica Benz of Dalhousie in New Brunswick, Canada, is the mother of five children. She received her autism diagnosis as a result of seeking answers to her kids’ challenges. Here are her reflections and tips on parenting as an adult on the autism spectrum.
What led you to discover your own autism diagnosis? Do you recommend seeking a diagnosis if you think you might be diagnosable?
My own diagnosis came about as an adult after two of my children had been diagnosed and we began to discuss family history with one of the psychologists we worked with. When I mentioned certain experiences as a child lining up with what I saw in my own children, a light bulb went off.
I pursued further screening and assessment from there, if only to better understand myself as a person, and as a parent. I think that more information is always better, especially about ourselves. If someone feels like autism might be part of the tapestry making up their own lives, it is worth asking about it and asking for an assessment.
Just as we check laundry labels for care instructions, the better we understand what makes up our own lives and selves, the better we can ensure we are using the right settings in terms of self-care and interaction with other people.
Did learning that you are autistic affect your decision to have children? And if so, how did you make the decision?
What kinds of parenting challenges do you face because you are autistic?
Autism Spectrum Disorder Family Health History And Genetics
If someone in your family has autism spectrum disorder , you may be more likely to have a child with ASD. ASD can look very different from person to person, so taking a careful family health history can be important for early diagnosis. Early screening and diagnosis of ASD can ensure that children receive the services they need for better outcomes.
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Inclination To Be Overweight
The inclination to be overweight or to be fit is inherited genetically. Some peoples weight and waist measurements are based on genes about 25% of the time. People who try to combat extra weight often inherit it from their parents. In situations like these, it is really hard to lose the extra pounds. But even in this case, a reasonable diet and physical activity will be beneficial.
The inclination to be fit or overweight can be equally inherited from either parent, but the inclination to be fat is inherited more often than the inclination to be fit.
The weight of a child depends solely on their mother. It doesnt depend on how much a father weighs, a child will be thin if a mother is thin. And if a mother is overweight, her child may have extra weight right after birth.
Why Is It Important To Know If You Have A Family Health History Of Autism Spectrum Disorder
Having a family health history of ASD makes you more likely to have a child with ASD, or to have ASD yourself. If you have a child with ASD, you are more likely to have another child with ASDexternal icon, especially if you have a daughter with ASD or more than one child with ASDexternal icon. Your other family members would also be more likely to have a child with ASD.
If you are pregnant or planning a pregnancy, tell your doctor if you or your partner have a family health history of ASD. This information can help your doctor determine how likely you are to have a child with ASD.
When collecting family health history information,
- Include your and your partners children, parents, sisters, brothers, grandparents, aunts, uncles, nieces, and nephews
- Include anyone with a diagnosis of ASDexternal icon, learning disorder, intellectual disability, schizophreniaexternal icon, epilepsy/seizures, personality disorderexternal icon, or attention-deficit/hyperactivity disorder
- Note if anyone had genetic testing and the results of that testing
- Include anyone with a genetic disorder that can cause ASD, such as fragile X syndrome or Rett syndromeexternal icon
- Be sure to include anyone who received a diagnosis that is no longer used, such as Asperger syndrome or mental retardation and
- Consider including older family members who have or had signs of ASD, even if they were not diagnosed with ASD, as ASD diagnoses were less common in the past and might have been missed.
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