Research Breakthrough Finds Mechanism and Potential Treatment for Autism, Intellectual Disability
등록일 2019년 01월 07일 화요일
수정일 2017년 11월 14일 화요일

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A breakthrough identified the mechanism and possible treatment for a specific autism type and intellectual disability.Researchers from the University of Nebraska Medical Center and Munroe-Meyer Institute discovered how the human AT-rich interactive domain 1B in the brain affect autism spectrum disorder.

ARID1B is a gene found in multicellular organisms like humans.Its first mutation causes only one copy of the gene to remain functional that leads to autism spectrum disorder.Early studies about the gene failed to determine how the mutation led to abnormal cognitive and social behaviors.People with ASD have decreased ability to communicate and interact with others, and about 75 percent of people with ASD also have intellectual disability, an abnormality described as significant limitations both in intellectual functions and adaptive behaviors.

But in the latest study, the researchers found something interesting from a genetically modified mouse they have analyzed.The mutated ARID1B gene reduced the gamma-aminobutyric acid or calming neurotransmitter in the brain that led to the imbalance of communication among neurons.GABA is responsible for the relaxation of the brain and muscles that can be reversed by glutamate, the excitatory neurotransmitter that plays a role in learning and memory.The fewer amounts of GABA in the brain may be linked to mood disorders, anxiety, and epilepsy.

"In normal behavior, the brain is balanced between excitation and inhibition.But when the inhibition is decreased, the balance is broken and the brain becomes more excited causing abnormal behavior.We showed that cognitive and social deficits induced by an Arid1b mutation in mice are reversed by pharmacological treatment with a GABA receptor modulating drug.And, now we have a designer mouse that can be used for future studies," said Dr.Woo-Yang Kim, an associate professor of developmental neuroscience at UNMC and led researcher of the study.

Dr.Kim and his team are now preparing to refine the specific mechanism for autism and intellectual disability and determine which GABA neurons are affected.

Autism Spectrum Disorder

Autism spectrum disorder is a condition for a group of developmental disorders.ASD includes a wide range of symptoms, skills, and levels of disability.People with ASD usually have the following characteristics:

- Social problems, such as difficulty in communicating and interacting with other people.

- Repetitive behaviors, such as limited activities and interests.

- The manifestation of symptoms occurs within the first year of life.

- The manifestation of symptoms directly affects the person's ability to socialize in many areas of life.

Some people have mild ASD while others have severe cases of the disorder.There are many treatments and programs that can help people with ASD achieve a better quality of life.Asperger's syndrome and autistic disorder are now considered part of ASD, according to the latest Diagnostics and Statistical Manual of Mental Disorders or DSM-5.

Symptoms of ASD

People with ASD may have several symptoms depending on the severity of the disorder.Symptoms associated with ASD may be categorized into two - repetitive behaviors and social behaviors.

1.Repetitive behaviors include having intense focus on interests like moving objects or parts of an object and having intense interest in a subject like numbers, trivia, facts, and places.

2.Social behaviors consist of communicating and interacting with other people.People with ASD show unusual behavior when socializing, such as getting upset by a small change in a routine, little or inconsistent eye contact, a rare ability to share the enjoyment from activities or objects by pointing or showing things to others, failure to or slow to respond when their name is being called, talking in length about a favorite topic without noticing if others are interested or without giving others a chance to respond, and an unusual tone of voice like sounding sing-song, flat or robot-like.

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Risk Factors of ASD

Scientists haven't determined the exact causes of ASD and research only suggested possible risk factors, such as genetics and the environment.Risk factors associated with ASD include gender - boys are more likely diagnosed with ASD Other risk factors are having a brother or sister with ASD, having a mother at age 35 or older and/or father at age 40 or older when the child was born, and genetic conditions.About 20 percent of children with ASD have a genetic condition like Down syndrome or the fragile X syndrome.

Treatment of ASD

There is no cure for ASD and treatment varies depending on the symptoms, skills, and level of disability.Therapies for people with ASD are meant to reduce their difficulties and help them learn new skills.As a parent or relative, you may help by following some of these recommended tips, according to the National Institute of Mental Health.

- Keep a detailed notebook to record conversations and meetings with teachers and healthcare providers.You will need this notebook when you are making tough decisions.

- Record the doctor's evaluations and reports on the notebook.You can use the information to qualify the person for special programs.

- Find an autism expert by asking the child's pediatrician, a school official, or a physician.Also, find an autism support group to reduce your stress and let you share your experiences with ASD.

Unique Abilities of People with ASD

- People with ASD have above-average intelligence, according to the Center for Disease Control and Prevention.

- About 46 percent of children with ASD have above-average intelligence.

- Ability to learn things in detail and remember information for a long time.

- Strong auditory and visual learners.

- Excel in creative subjects like art and music, and mental subjects like math and science.

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