According to a new study conducted by Ben-Gurion University of the Negev and Soroka Medical Center, a normal prenatal ultrasound in the second trimester can detect early symptoms of Autism Spectrum Disorder (ASD).
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Is it possible to identify autism?
Because there is no medical test for autism spectrum disorder (ASD), such as a blood test, diagnosing the illness can be difficult. To make a diagnosis, doctors look at the child’s developmental history and behavior.
ASD can be recognized in children as young as 18 months old. A diagnosis from an experienced practitioner can be regarded reliable by the age of two. Many youngsters, however, do not obtain a definitive diagnosis until they are considerably older. Some folks aren’t diagnosed until they’re in their twenties or thirties. People with ASD may not receive the early help they require as a result of this delay.
It is critical to diagnose children with ASD as soon as possible in order to ensure that they receive the assistance and supports they require to attain their full potential. This procedure is broken down into multiple steps.
For the time being, American medical academies only recommend karyotyping or chromosomal microarray analysis as diagnostic tools for autism. They also recommend testing for point mutations in FMR1, MECP2, or PTEN, but only if a kid exhibits other symptoms of the disorders linked to these mutations.
There aren’t many. In 3% of autistic patients, karyotyping uncovers a relevant mutation, while microarray analysis uncovers a relevant mutation in 10%3. In 14 percent of autistic persons, sequencing the three genes linked to disorders could reveal an autism mutation.
Combining these techniques with exome sequencing could produce results in up to 40% of patients with autism.
Microarrays discovered mutations that potentially explain autism in 9 percent of youngsters with the disease in a 2015 research. Exome sequencing identified alterations in additional 8% of people4.
If the autistic person additionally has intellectual handicap, seizures, or odd facial traits, the chances of detecting a known genetic variant increase.
A negative result does not rule out the possibility of a mutation that causes autism. It’s possible that the test won’t detect that particular mutation, or that the mutation has yet to be linked to autism.
Many of the genes now linked to autism were not linked to the disorder five years ago. The results of most genetic testing facilities are reanalyzed once a year based on the most recent findings.
Is it possible that either the mother or the father has autism?
There is no one gene that causes autism when it is mutated. However, researchers have discovered hundreds of gene variants that appear to alter brain development in ways that increase the chance of autism over the last decade. These researchers, on the other hand, were primarily looking for variations in DNA that directly encode the building elements of proteins. A new research of so-called noncoding DNA has discovered that changes in areas that control gene activity may possibly play a role in autism. Surprisingly, these mutations were more likely to be inherited from non-autistic dads.
“This is a pretty wonderful publication,” says Lucia Peixoto, a neurologist and computational biologist at Washington State University in Spokane who was not involved in the study. “I believe it makes a significant contribution to the field.”
The majority of research on the genetic risk for autism has focused on how mutations that occur spontaneously in a person’s genome rather than being inherited from a parent affect protein-coding areas and cause autism. According to Jonathan Sebat, a geneticist at the University of California, San Diego, these random mutations have rather big impacts, and studies have indicated that while such mutations are individually rare, they collectively contribute to roughly 25% to 30% of instances. However, protein-coding regions make up just roughly 2% of the genome. According to Sebat, autism research has so far disregarded the huge noncoding component of our DNA, also known as “junk DNA.”
The portions of noncoding DNA that affect gene expression were of particular interest to Sebat’s team. They looked at whole-genome sequences from autistic people, their non-autistic siblings, and their parents from 829 households. Because determining the impact of individual DNA base changes in noncoding regions is challenging, the researchers focused on larger variations, known as structural variants, in which extensive stretches of DNA are inverted, duplicated, or deleted.
Because each person’s genome has hundreds of structural variants, the researchers focused their investigation on just a few regulatory sites where genetic variation appeared to be most likely to cause disruption. They identified these by looking for areas with less genetic variation than predicted in the general population, implying that genetic changes there could be harmful. Sites involved in regulating gene activity and beginning gene transcription during brain development were among them.
The researchers next looked at the pattern of transmission from parents to their autistic and non-autistic offspring to see if structural variants in these locations were linked to autism. Researchers believe that moms are more likely to pass on autism-causing gene variations to their children. That’s because the prevalence of autism in women is significantly lower than in males, and it’s hypothesized that women can have the same genetic risk factors as men without showing any evidence of autism. When a mother transmits these genes down to her sons, however, they are not protected in the same way and are thus affected.
The researchers discovered that women passed on only half of their structural variants to their autistic offspring, a frequency that would be anticipated by chance alone, implying that maternal variants are unrelated to autism. Surprisingly, dads passed down significantly more than half of their mutations. According to the findings published today in Science, autistic children may have inherited risk variations in regulatory areas from their fathers but not from their mothers.
Sebat’s team investigated a second, larger sample of 1771 families to see if their findings held up. Autistic children acquired more structural variations from their fathers than from their mothers, albeit the effect was not as substantial in this second sample.
Sebat says, “This is entirely opposed to… what we had previously assumed.” Peixoto is surprised by the paternal bias, despite her suspicions that the genetic component of autism would be more visible in noncoding regions. Variants in regulatory areas are usually less common than mutations in protein-coding regions “Effects are minor but additive. And when your impact is minimal, it’s much more likely to be passed on from generation to generation.”
Sebat proposes a more complex model of how autism develops based on these findings, in which mothers pass on mutations affecting coding regions, which have large effects that women are protected from, and fathers pass on variants affecting noncoding regions, which have much smaller effects and may only cause symptoms when combined with risk variants from mothers.
The study delivers “quite intriguing preliminary findings,” according to Dalila Pinto, a molecular geneticist at Mount Sinai’s Icahn School of Medicine. She said she’ll be curious to see if the findings are duplicated in larger genome datasets and if other variants are discovered. Although the research is still in its early stages, Peixoto agrees that it “opens a door in a different way.”
Who is at a greater risk of developing autism?
- Genetics appears to be implicated in the great majority of instances, according to research.
- Autistic children are more likely to be born to older parents.
- Parents who have one child with ASD have a 2 to 18% probability of having another child with the disorder.
- According to studies, if one child has autism, the other is impacted 36 to 95 percent of the time in identical twins. If one child has autism, the other is impacted around 31% of the time in non-identical twins.
- Extensive study has been conducted over the last two decades to see if there is a link between childhood immunizations and autism. The findings of this study are unmistakable: vaccines do not cause autism.
How do you avoid having an autistic child?
Doctors aren’t sure what causes autism, but they think genes play a huge role in whether or not a child is born with it.
A baby can be born with birth problems in rare situations, according to physicians, if the mother was exposed to specific toxins while pregnant. However, doctors are unable to determine whether or not your kid will be autistic during pregnancy.
While you can’t avoid having a child with autism, you can improve your chances of having a healthy baby by making the following lifestyle changes:
Live a healthy lifestyle. Maintain a healthy lifestyle by getting regular checkups, eating well-balanced meals, and exercising. Make sure you get appropriate prenatal care and take all of the vitamins and nutrients that are advised.
Don’t consume any drugs while you’re pregnant. Before taking any drug, consult your doctor. This is particularly true of some anti-seizure medications.
Avoid consuming alcoholic beverages. While you’re pregnant, avoid that glass of wine and any other alcoholic beverage.
Seek medical help if you already have a health problem. If you’ve been diagnosed with celiac disease or PKU, stick to your doctor’s recommendations for managing your symptoms.
Vaccinate yourself. Before you are pregnant, make sure you have the German measles (rubella) vaccine. It can help to prevent autism caused by rubella.
What are the three most common symptoms of autism?
Autism is a developmental disease that manifests itself in a variety of ways, including communication difficulties, behavioral issues, and social interaction issues.
What are the three most common signs and symptoms of autism?
Autism, also known as autism spectrum disorder (ASD), can express itself in a variety of ways in various children. The usual age of diagnosis is two years, while some children are diagnosed as early as five years old.
The following are symptoms to look for in children who may have autism:
- Milestones that have been pushed back
- A socially awkward youngster
- The child who has difficulty communicating verbally and nonverbally
Delayed Milestones: At a certain age, every youngster begins cooing, rolling over, babbling, smiling, pointing, and sitting up. These are referred to as milestones. Even though each child develops at his or her own rate, you should see a pediatrician if:
- By the age of six months, the youngster had not smiled.
- By the age of nine months, the youngster has no facial expressions.
- By the age of 12 months, the youngster is not making cooing noises or babble.
- By the age of twelve months, no pointing or waving is allowed.
- By the age of 16 months, the youngster is unable to communicate.
- While you’re feeding him, he avoids eye contact.
- Prefers to play by himself.
- Doesn’t answer when called by their name
- Is not fond of being touched.
- Prefers stable procedures, and even tiny changes might cause them a lot of grief.
- Has a hard time comprehending or talking about feelings.
Communication issues, both verbal and nonverbal:
- Echolalia: They keep repeating the same words.
- They speak in a flat tone with no facial expressions.
- They don’t get emotions (such as rage or sarcasm) in a conversation.
- They have a hard time expressing themselves.
Other significant red flags include:
- Regression of milestones: If your child achieves milestones as expected for his or her age, but then loses them by the age of 12-18 months and ceases smiling, cooing, pointing, and so on, it’s a cause for concern.
- Stimming: If your kid exhibits repetitive actions such as head flapping, eyelid twitching, twirling, flapping their hands, or spinning in circles, you should see a pediatrician right once.
- Pica (an abnormal desire to eat something that is not considered food, such as dirt, clay, ice, or hair), eating only certain food categories, such as sweet or salty food, or only ‘yellow’ or a particular colored food are examples of abnormal eating behavior.
- Temper tantrums: These are common in children aged 2 to 5 years. The child may be irritated to the point of banging their head on the floor. They may have strange reactions to even the most innocuous odors and sounds.
What are the top five autistic symptoms?
Autism symptoms in young children include:
- failing to respond to their name
- avoiding making direct eye contact
- when you grin at them, they don’t smile back
- If they don’t like a certain taste, smell, or sound, they become enraged.
- fluttering their hands, flicking their fingers, or rocking their bodies are examples of repetitive actions.
- not as animated as other children
- the use of the same phrases
What causes autism in a pregnant woman?
If Zayden turns out to be on the spectrum as well, “So be it, says Patao. ‘What if?’ she thought throughout her pregnancy. She found herself looking over research studies in an attempt to figure out what factors would influence his chances of developing autism.
Patao, who is pursuing a career as a pediatric nurse practitioner, discovered plenty of reading material: Over 100 publications were published last year on events during pregnancy that can increase a child’s risk of developing autism. About 50 to 95 percent of the risk is determined by genes. However, this implies that “According to Daniele Fallin, a genetic epidemiologist at Johns Hopkins University in Baltimore, “there’s more to the story than just that genetic tendency.” Contributions from the environment must also be considered.
The baby’s first surroundings
the wombie’s opinion is crucial: Because the fetal brain creates roughly 250,000 neurons every minute throughout pregnancy, events that disrupt this process can have long-term consequences for the growing brain. Autism has been related to a variety of issues during pregnancy, including the mother’s nutrition, medications, and mental, immunological, and metabolic problems, such as preeclampsia (a type of high blood pressure) and gestational diabetes. Other preliminary research has linked her to pesticides and the quality of the air she breathes. Birth difficulties and birth time may also play a role, according to some study.
The link between many of these characteristics and autism is still a work in progress “According to Brian Lee, an epidemiologist at Drexel University in Philadelphia, answering the question of causality is a difficult task. This is true in general for research on environmental exposures, but it is especially true for studies involving pregnant women: Researchers cannot expose pregnant women to potential risks ethically; observational studies can only uncover correlations, not causes; and animal studies do not necessarily generalize to humans.
However, scientists are beginning to identify biological links that connect some of these prenatal exposures. Many of these influence common metabolic pathways previously linked to autism, such as inflammation and abnormal immunology in both the mother and the child. Each person is only allowed to have one “Contribute a little risk here and there, Lee adds, but it’s critical to attempt to figure out how everything fits together.