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Genetic Research in Autism Spectrum Disorder

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Genetic studies have the potential to find the underlying biological cause of autism spectrum disorder and other neuropsychiatric disorders.

Medically reviewed by

Dr. Vishal Anilkumar Gandhi

Published At November 23, 2022
Reviewed AtAugust 18, 2023

Introduction:

Autism spectrum disorder is a serious neuropsychiatric condition in which there is an impairment in social and communication behavior, as well as restricted interests in anything. Approximately one percent of children in the United States meet the current diagnostic criteria for autism spectrum disorder, with the onset of symptoms in early childhood persisting throughout life. The degree of severity increases gradually with the outcome of challenges affecting families to get confronted with social, educational, and occupational problems. The treatment options are also very limited as no pharmacological treatment has been proven to work completely with a reduction in autism symptoms or their frequent cognitive comorbidities.

How Do Genetic Factors Influence Autism Disorder Risk?

Genetic disturbance or derangement plays a major role in a newly born baby with a mental disorder. Genetic variants differ in nature and in the frequency at which they occur in the human population, and inherited genetic variants that are passed from parents to children can occur at all frequencies, from common to very rare. Genetic abnormalities arising newly in the offspring that are not seen in a carrier’s parents are typically rare. Genetic studies have strongly suggested that autism disorder generally occurs due to an alteration of the amino acid sequence in a protein or a functional RNA (ribonucleic acid) or by producing a change in the circumstances or timing disturbance.

What Is Autism Disorder?

Autism spectrum disorder is a developmental disorder in which the affected child may face difficulty in social interaction, communication, and behavior. The main and earliest sign to detect an autistic child is they will not be able to make eye contact with anyone, and they do not listen or respond to any commands. About 30 % with the disorder have an intellectual disability and are likely to have the disorder when someone in the family has a history of autism. Early screening and diagnosis can ensure that children receive the better service they need for a better outcome.

What Are the Causes of Autism Disorder?

The cause is still unknown, but the most accepted reason behind autism is an abnormality in the brain structure and function. The genetic cause is also considered to be the reason as the genetics of autism is complex and cannot be determined whether it is rare mutations with major effects or if it is multi-gene interactions that occur in common genetic variants. The disruption mainly occurs in the early stages of fetal development due to various environmental factors that affect the gene function and brain cell communication process. Children with tuberous sclerosis and fragile X syndrome have a huge tendency to develop autism. Also, when the parents conceive at a later age, the baby is prone to autism.

How Is Autism Spectrum Disorder Diagnosed?

Autism can be detected from the age of two and is generally diagnosed by skilled professionals, which include a pediatrician, neuropsychologist, and developmental therapists; however, there are many children who cannot be diagnosed as autistic child because some might have different signs and symptoms. The diagnosis must involve two steps, and they are:

  1. Developmental Screening: A neuropsychologist and developmental therapist detect the activity and behavioral changes of the child at regular intervals at the age of nine months, 18 months, 24 months, and 30 months. If there is any developmental delay found in the child, it has to be diagnosed with the developmental screening process, but those who are at higher risk, like premature birth and family history, should be checked earlier.

  2. Other Diagnostic Evaluation: Genetic testing, hearing and vision screening, neurological testing, and other medical tests help detect and analyze if there is a problem in the child’s brain development.

How to Treat Autism?

There is no permanent treatment for autism spectrum disorder, but it can be treated and managed to some extent by:

  • Treatment Through Medication: Antipsychotic medicines like Risperdal, Melatonin, and others are recommended to manage serious behavioral problems like self-harm, aggression, sleep apnea, and tantrums. However, there is no permanent solution for autistic children.

  • Diet for Autistic Child: An autistic child's diet must contain high quantities of omega-3 fatty acids and vitamins along with a diet free of gluten, present in wheat, and casein, present in milk, which is often recommended for autistic children. 30 % of autism patients consume non-food items like paper or dirt, and hence, parents must be attentive and careful.

Some of the home treatments are also found to be useful for the treatment of autism, and they are:

  • Behavior and Communication Approaches: Most of the time, communication is a major concern, and hence the parents should:

    • Use the child’s name multiple times to make them understand that they are being referred to when calling the name.

    • Keep the background sound as minimal as possible.

    • Start with a slow and steady conversation.

    • Use simple gestures to communicate with the child.

    • Notice the expression of the autistic children if they want to say something.

    • Speak slowly and make them focus on the lip movement so that the autistic child understands and learns the words.

  • Parent’s Education and Training: The parents can educate themselves about the facts and figures about the disorder by joining the local communities to learn how to live with autistic children.

  • Makaton and PECS (Picture Exchange Communication System): Makaton is an alternative communication method in which the parents are taught how to communicate with the children through signs and symbols.

  • Alternative Therapies: In some cases, a few alternative therapies are used, like chelation therapy, hyperbaric oxygen therapy, occupational therapy, sensory integration therapy, and dance movement therapy for autistic children, which do not have any scientific evidence.

Conclusion:

Autistic spectrum disorder has no cure, but few therapies can help to a great extent to live a better life. To minimize the risk factor of autism, the parents, right from the time of pregnancy, should take care of a proper diet, exercise, minimize the use of electromagnetic rays, and take proper doses of vaccines. Early detection of the disorder is fruitful for both survivors and parents.

Frequently Asked Questions

1.

What Is the Gene Associated With Autism?

Yes, the disease is associated with the genes. The inherited mutations in the gene called ACTL6B cause autism, intellectual disability, and epilepsy.

2.

How Do Genes Cause Autism Spectrum Disorders?

The exact cause of autism spectrum disorder is unknown. People with certain genetic disorders such as tuberous sclerosis, fragile X syndrome, and Down syndrome are likely to have autism. A family history of autism spectrum disorder makes the child more prone to autism. Usually, the patient's family history is essential while diagnosing the conditions. Genetic abnormalities arising newly in the offspring that are not seen in a carrier’s parents are typically rare. Genetic studies have strongly suggested that autism disorder generally occurs due to an alteration of the amino acid sequence in a protein or a functional RNA (ribonucleic acid) or by producing a change in the circumstances or timing disturbance.

3.

What Is the Common Genetic Cause of Autism Spectrum Disorder?

Autism spectrum disorder is associated with a genetic disorder such as fragile X syndrome and Down syndrome. Some genetic mutations are inherited.

4.

Are Parents Tested for Autism Genes?

Yes, parents will need genetic testing because autism is an inherited disorder. Any mutations in the gene can be found in the results of the testing. A family history of autism is one of the risk factors for a child to have autism, especially if the parents have a daughter with autism or more than one child with autism. The other family members will also have kids with autism. If the family members had genetic disorders such as fragile X syndrome and Down syndrome. It is more likely for the child to have autism.

5.

How Autism Is Detected During Pregnancy?

A routine prenatal ultrasound can diagnose autism. Studies suggest that early signs of autism can be detected through routine prenatal ultrasound in the second trimester.

6.

Is Autism Very Common Today?

Increased paternal age accounts for three percent of autistic children. Autism’s prevalence is rising because of environmental toxins and vaccines. Pregnancy and birth complications, such as delivery before 26 weeks, low birth weight, and multiple pregnancies, are contributing factors.

7.

What Is the Frequency of Autism in Firstborns?

Yes, firstborn children have an increased likelihood of autism. The first child with autism rises the odds of a second child with the autistic disorder by twenty folds.

8.

Who Carries the Autism Gene in Parents?

One parent inherits a dominant trait. Autism is always thought to have a maternal inheritance component.

9.

What Is the Age at Which Autism Is Noticed First?

Autism is detected first by 18 months of age or younger. Some people are not diagnosed until they are adults. A diagnosis from an experienced professional by the age of 2 can be considered reliable.

10.

At What Month Are Autistic Children Born?

The symptoms of autism usually appear early in development as children show symptoms by 12 months to 18 months of age or earlier.  Mostly autistic children are not diagnosed till age 3.

11.

How Can Stress During Pregnancy Cause Autism?

Prenatal stress and maternal immune dysfunction contribute to a significant proportion of autism disorders. High levels of stress during pregnancy are connected to autism in children. Stress causes hormone abnormalities in pregnant women are a significant potential risk factor for autism. Viral infections in the mother during pregnancy might also result in autism.

12.

How Autism Can Be Prevented in Children?

It is essential to do medical checkups and take medications during pregnancy. Early diagnosis can help prevent autism. Currently, there is no definitive cure to prevent autism. Pregnant women develop prevention strategies for autism. Pregnants should avoid airborne toxins. Access to clean water can prevent this because contaminated water is connected to high rates of autism. Maintaining a nutritious diet prevents autism. A healthy diet, such as an organic diet rich in green vegetables and fruits containing antioxidants, folic acid, vitamin D, and omega-3 fatty acids. Gestational diabetes, prescription medications, and cesarean sections are risk factors for autism that can be avoided.

13.

How Does IVF Increase the Chance of Autism?

No. Invitro fertilization has a slight association with autism. The risk of autism was less among children born to women using in vitro fertilization (IVF). The overall risk of autism is extremely small in children born through in-vitro fertilization. When we control the characteristics of women, such as maternal age, and multiple births, the association can be reduced.

14.

At What Rate Autism Is Found in India?

1 in 500 or 0.20 percent. A higher risk of ASD is found in rural areas than in tribal areas. Upper socioeconomic groups of family and male sex have a higher risk of getting diagnosed with autism than lower socioeconomic people.

15.

What Is the Best Treatment for Autism?

Applied behavioral therapies are considered the gold standard for autism. They focus on changing the behavior. They have the widely accepted evidence for treating symptoms of autism. A prominent treatment for autism is applied behavior analysis (ABA). It discourages undesired behaviors and encourages desired behaviors to improve these skills.
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Dr. Vishal Anilkumar Gandhi
Dr. Vishal Anilkumar Gandhi

Psychiatry

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