How Is Autism Spectrum Disorder Diagnosed
There are no laboratory tests to determine ASD. However, certain healthcare providers receive specific training and can do screenings and evaluations if needed and who might ask parents or teachers to record observations. These providers might include specialized physicians, psychologists and speech-language pathologists.
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Epigenetics And The Environment
Autism susceptibility is currently estimated to be 4080% genetic. Environmental factors likely acting through epigenetic regulation as the major mechanism presumably compromise the remainder of the risk. Hundreds of potential environmental factors have been suggested to contribute to risk, such as increased parental age , maternal complications or infections during pregnancy, or prenatal exposure to anticonvulsants . In-depth reviews of these findings can be found elsewhere . In this review, we will only discuss the epigenetic modifying effects of valproic acid an anticonvulsant as one example of the widespread modifications that an environmental factor can induce. Valproic acid has been hypothesized to modify gene expression through histone deacetylase inhibition activity and is sometimes used to induce an autistic phenotype in animal models . Examples of its far-reaching effects include apoptotic cell death in the neocortex, decreased proliferation in the ganglionic eminence, increased homeobox A1 expression, abnormal serotonergic differentiation via Achaete-Scute family BHLH transcription factor 1 silencing, disrupted serotonin homeostasis in the amygdala, dendritic spine loss, reduced prefrontal dopaminergic activity, and disruption of the glutamatergic/GABAergic balance .
What Is Fragile X Syndrome
FXS is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. The agreed upon prevalence of FXS is approximately 1 in 3,6004,000 for males and 1 in 4,0006,000 for females.
No one individual will have all the features of FXS:
- Behavioral characteristics include ADD, ADHD, social anxiety, hand-biting and/or flapping, poor eye contact, sensory disorders, increased risk for aggression, and autism and autistic-like behaviors.
- Intellectual disabilities include a range from moderate learning disabilities to more severe intellectual disabilities.
- Physical features may include large ears, long face, soft skin, and large testicles in post-pubertal males.
- Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers, and hyper-flexible joints.
- Disposition: They are very social and friendly, have excellent imitation skills, have a strong visual memory/long term memory, like to help others, are nice, thoughtful people and have a wonderful sense of humor.
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How Is Asd Diagnosed
ASD symptoms can vary greatly from person to person depending on the severity of the disorder. Symptoms may even go unrecognized for young children who have mild ASD or less debilitating handicaps.
Autism spectrum disorder is diagnosed by clinicians based on symptoms, signs, and testing according to the Diagnostic and Statistical Manual of Mental Disorders-V, a guide created by the American Psychiatric Association used to diagnose mental disorders. Children should be screened for developmental delays during periodic checkups and specifically for autism at 18- and 24-month well-child visits.
Very early indicators that require evaluation by an expert include:
- no babbling or pointing by age 1
- no single words by age 16 months or two-word phrases by age 2
- no response to name
- excessive lining up of toys or objects
- no smiling or social responsiveness
Later indicators include:
- impaired ability to make friends with peers
- impaired ability to initiate or sustain a conversation with others
- absence or impairment of imaginative and social play
- repetitive or unusual use of language
- abnormally intense or focused interest
- preoccupation with certain objects or subjects
- inflexible adherence to specific routines or rituals
So What Does Cause Autism
At the end of the day, autism is a complex disability and as far as we know theres no single cause. Instead, its likely to be due to a combination of environmental and genetic factors .
What research has told us is, there do seem to be a few factors that can increase the risk of autism, such as:
- Your childs sex: autism is four times more common in boys than girls.
- Family history: families who have a child with autism have an increased risk of having another child with the disorder.
- Other disorders: children with certain medical conditions have a higher risk of autism, or autism-like symptoms .
- Extremely pre-term babies: babies born under 26 weeks may have a higher risk of autism.
While these factors may increase the risk, it is important to know that falling into one of these categories does not mean that you or your child will definitely develop autism.
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Diagnosis Of Autism: What We Do Know
Autistic children benefit from early diagnosis, preferably in the first two years of life. Early diagnosis allows behavioral therapy or other treatments to begin early when it seems to be most effective. If you are concerned about your child, talk to your doctor about a referral to see a specialist who can help determine if follow-up is needed. Signs of autism may include symptoms such as:
- no babbling or pointing by age 1
- no single words by 16 months or two-word phrases by age 2
- no response to name
- loss of language or social skills
- poor eye contact
Breaking Through The Barriers Of Asd
ASD has no cure. But there is hope through treatment. Many children can learn to communicate and interact. Healthcare providers and mental health experts have learned a lot about how to break through to these children.
Here are some things we know about children with an ASD:
They may not be able to understand your nonverbal communications. They may not react to your smile or frown.
They take things literally. You need to be careful to say exactly what you mean. If you hurry the child by saying âStep on it,â donât be surprised if he or she asks what to step on.
They may only be able to handle one thought or idea at a time. Keep conversations focused and simple.
They may want to only talk about the one thing they are really interested in at a given time.
They may see things differently than you do. You may not even notice ordinary sounds, tastes, touches, smells, and sights. But these may be physically painful to the child.
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Autistic People May Act In A Different Way To Other People
Autistic people may:
- find it hard to communicate and interact with other people
- find it hard to understand how other people think or feel
- find things like bright lights or loud noises overwhelming, stressful or uncomfortable
- get anxious or upset about unfamiliar situations and social events
- take longer to understand information
- do or think the same things over and over
If you think you or your child may be autistic, get advice about the signs of autism.
Is There A ‘cure’ For Autism
There is no known ‘cure’ for autism. We also believe that autism does not need a ‘cure’ and should be seen as a difference, not a disadvantage. We also warn people about fake cures and potentially harmful interventions here.
This does not mean that autistic people do not face challenges, but with the right support in place, they are more than capable of living fulfilling and happy lives. Because autism is a ‘spectrum’ condition it affects different people in different ways. It is therefore very difficult to generalise about how an autistic person will develop over time. Each person is different, and an intervention or coping strategy which works well with one person may not be appropriate or effective with another.The characteristics of autism can present themselves in a wide variety of combinations. Two people with the same diagnosis can have a very different profile of needs and skills.
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What Is Asperger’s And Where Does It Come From
By | Submitted On December 30, 2006
Did Einstein have Asperger’s? Recently, I found myself miffed at yet another conference on Autism. In this case, it was a day long seminar lead by an M.D. from the child study center of a major Connecticut medical university. What upset me was that he implied that only M.D.’s can correctly diagnose Asperger’s moreover, that diagnosing anyone in less than four days was simply people out to scam money out of the poor families.
That this man was narrow minded is clear. What upset me was that he implied that only M.D.’s can correctly diagnose Asperger’s moreover, that diagnosing anyone in less than four days was simply people out to scam money out of the poor families.
What is important to see here is why they did not need this medical assistance. Why didn’t they? Because their “special interest” generalized to an interest in which the general population is also interested. According to Dr. Iknowbest, though, people who achieve public success cannot possibly suffer from Asperger’s.
Here again, we see a case wherein symptoms, rather than personal suffering, drives the diagnosis. However, before I address this misnomer further, I need to first make a disclaimer. I want you to know that I, in no way, mean to imply that all medically minded folks are asses. In truth, I relish reading medical studies such as those Harvard recently did, wherein they used brain imaging to explore the physical identity of Asperger’s.
What is Asperger’s?
How Is Autism Treated
There is no cure for ASD. Therapies and behavioral interventions are designed to remedy specific symptoms and can substantially improve those symptoms. The ideal treatment plan coordinates therapies and interventions that meet the specific needs of the individual. Most health care professionals agree that the earlier the intervention, the better.
Educational/behavioral interventions: Early behavioral/educational interventions have been very successful in many children with ASD. In these interventions therapists use highly structured and intensive skill-oriented training sessions to help children develop social and language skills, such as applied behavioral analysis, which encourages positive behaviors and discourages negative ones. In addition, family counseling for the parents and siblings of children with ASD often helps families cope with the particular challenges of living with a child with ASD.
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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.
Where Does Autism Awareness Month Come From
In 1972, the Autistic Society established National Autistic Childrens Week as part of its efforts to educate people about autism spectrum disorders and how to support autistic people. This evolved into a month-long observance known as Autism Awareness Month, which became widely observed throughout the autism community.
In the 2010s, many individuals and organizations, most prominently the Autistic Self Advocacy Network, began to shift toward observing the month as Autism Acceptance Month. Use of this name was formally adopted by the Autistic Society in 2021. Along with the change in the name, many have called for autism advocacy campaigns to prioritize acceptance and to be refocused around the viewpoints and experiences of autistic people.
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Genetic Bases Of Autism
Several psychiatric diseases have strong evidences of genetic involvement in their origin, and among them are schizophrenia, bipolar disturbance and autism. In 1977, a study with mono and dizygotic twins described for the first time the genetic predisposition of autism .
Nowadays, population studies suggest that the model that better describes DASs is multifactorial with a concordance of 60-92% in monozygotic twins and 0-10% in dizygotic twins . Differences found in studies between monozygotic twins support the multifactorial model, demonstrating the importance of environmental factors.
Several studies were performed to clarify genetic factors associated with the disease. Autism symptoms that suggest a strong genetic component are convulsions, mental deficiency, neurons and synapse decrease in amygdala, hippocampus and cerebellum, increased size of encephalon, and increased level of circulating serotonin. Even studies with monozygotic twins show a significant concordance, as opposed to dizygotic twins. Non-twin siblings present a risk of developing autism ranging from 0-30%, and this risk is much higher than in the general population .
The comparison of the mentioned populational groups, as well as the difference between men and women, shows epistatic effects that involve an interaction between several genes, suggesting the role of environmental factors .
What Is The Difference Between Autism And Adhd
Autism and ADHD are sometimes confused with one another.
Despite some similarities, ADHD isnt considered a spectrum disorder. One major difference between the two is that people with ADHD dont tend to lack socio-communicative skills.
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High Levels Of Fetal Testosterone
It has long been noted that the prevalence of Autism seems to be stronger in boys than in girls. It does not mean that girls are excluded from Autism, but instead that higher numbers of boys are diagnosed than girls. Science has indeed confirmed that the trait is male-typical, although not exclusive. The study says that high levels of testosterone in the amniotic fluid may be related to certain variables of brain function, like cognition and behavior. The information was compiled from routine amniocentesis. These findings confirm a previous hypothesis that Autism could be related to the male sex hormone. The theory states that children with extreme male brain, babies exposed to too much testosterone, show a reduced capacity to empathize and a stronger urge to systemize. Researchers say that this test was too small to be conclusive and that a much larger study is necessary to confirm the link between over productions of testosterone in the amniotic fluid and Autism.
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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Do Autism Run In Families
There is ample evidence that autism continues to run in families. Genes that alter during pregnancy alter the childs susceptibility to autism. There are several gene mutations that can be passed on by a parent these include autism, addiction problems, depression, alcoholism, and even bipolar disorder .
The review reported that families with children with autism have a greater frequency of the disease prevalence. Changes in those genes enhance the childs vulnerability to autism. to their child can inherit one or more of these changes if a parent has these genes . These genetic modifications take place within an embryo during the various stages of development. Even the variations in the bulk of these genes are not by themselves harmful. By advancing the chance for disturbance, they deepen the risk for the problem.
Genetic Causes And Modifiers Of Autism Spectrum Disorder
- Department of Physiology, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States
Autism Spectrum Disorder is one of the most prevalent neurodevelopmental disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations. In the past decade, hundreds of genes have been identified that contribute to the serious deficits in communication, social cognition, and behavior that patients often experience. However, these only account for 1020% of ASD cases, and patients with similar pathogenic variants may be diagnosed on very different levels of the spectrum. In this review, we will describe the genetic landscape of ASD and discuss how genetic modifiers such as copy number variation, single nucleotide polymorphisms, and epigenetic alterations likely play a key role in modulating the phenotypic spectrum of ASD patients. We also consider how genetic modifiers can alter convergent signaling pathways and lead to impaired neural circuitry formation. Lastly, we review sex-linked modifiers and clinical implications. Further understanding of these mechanisms is crucial for both comprehending ASD and for developing novel therapies.
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Problems With Communication And Social Interaction
These can include:
- issues with communication, including difficulties sharing emotions, sharing interests, or maintaining a back-and-forth conversation
- issues with nonspeaking communication, such as trouble maintaining eye contact or reading body language
- difficulties developing and maintaining relationships