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Informational Essay

Definition:

au·tism

ˈôˌtizəm/

noun

  1. a mental condition, present from early childhood, characterized by difficulty in communicating and forming relationships with other people and in using language and abstract concepts.

Characteristics:

  • Ongoing social problems that include difficulty communicating and interacting with others.

  • Repetitive behaviors as well as limited interests or activities.

  • Symptoms that typically are recognized in the first two years of life.

  • ​Symptoms that hurt the individual’s ability to function socially, at school or work, or other areas of life.

 

Some people are mildly impaired by their symptoms, while others are severely disabled. Treatments and services can improve a person’s symptoms and ability to function. According to the Centers for Disease Control and Prevention (CDC)  around 1 in 68 children has been identified with some form of ASD.

What is Autism Spectrum Disorder?

Autism spectrum disorder (ASD) refers to a group of complex neurodevelopment disorders characterized by repetitive and characteristic patterns of behavior and difficulties with social communication and interaction. The symptoms are present from early childhood and affect daily functioning.

The term “spectrum” refers to the wide range of symptoms, skills, and levels of disability in functioning that can occur in people with ASD. Some children and adults with ASD are fully able to perform all activities of daily living while others require substantial support to perform basic activities. The Diagnostic and Statistical Manual of Mental Disorders (DSM-5, published in 2013) includes Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorders not otherwise specified (PDD-NOS) as part of ASD rather than as separate disorders. A diagnosis of ASD includes an assessment of intellectual disability and language impairment.

ASD occurs in every racial and ethnic group, and across all socioeconomic levels. However, boys are significantly more likely to develop ASD than girls. The latest analysis from the Centers for Disease Control and Prevention estimates that 1 in 68 children has ASD.

What it means to be on the spectrum:

Each individual with autism is unique. Many of those on the autism spectrum have exceptional abilities in visual skills, music and academic skills. About 40 percent have average to above average intellectual abilities. Indeed, many persons on the spectrum take deserved pride in their distinctive abilities and “atypical” ways of viewing the world. Others with autism have significant disability and are unable to live independently. About one third of people with ASD are nonverbal but can learn to communicate using other means. Autism Speaks’ mission is to improve the lives of all those on the autism spectrum. For some, this means the development and delivery of more effective treatments that can address significant challenges in communication and physical health. For others, it means increasing acceptance, respect and support.

There are three different types of Autism Spectrum Disorders:

  • Autistic Disorder: (also called "classic" autism)
    This is what most people think of when hearing the word "autism."  People with autistic disorder usually have significant language delays, social and communication challenges, and unusual behaviors and interests. Many people with autistic disorder also have intellectual disability.

  • Asperger Syndrome:
    People with Asperger syndrome usually have some milder symptoms of autistic disorder.  They might have social challenges and unusual behaviors and interests.  However, they typically do not have problems with language or intellectual disability.

  • Pervasive Developmental Disorder :

  • Not Otherwise Specified (PDD-NOS; also called "atypical autism")
    People who meet some of the criteria for autistic disorder or Asperger syndrome, but not all, may be diagnosed with PDD-NOS. People with PDD-NOS usually have fewer and milder symptoms than those with autistic disorder. The symptoms might cause only social and communication challenges.

What causes autism?

Autism tends to run in families, so experts think it may be something that you inherit. Scientists are trying to find out exactly which genes may be responsible for passing down autism in families.

Other studies are looking at whether autism can be caused by other medical problems or by something in your child's surroundings.

False claims in the news have made some parents concerned about a link between autism and vaccines. But studies have found no link between vaccines and autism. It's important to make sure that your child gets all childhood vaccines. They help keep your child from getting serious diseases that can cause harm or even death.

Fun Fact:

WHY A PUZZLE PIECE?

On a nationwide level, the Puzzle Piece symbol reflects the mystery and complexity of Autism Spectrum Disorder (ASD). Also, since every puzzle piece is different in some way, a puzzle piece accurately represents the diversity of the individuals affected. 

Research:

 

                                Is autism hiding in a fold of the brain?

                                              Scientists at CNRS, Aix-Marseille Université and AP-HM have identified a                                                   cerebral marker specific to autism that can be detected by MRI and is                                                         present as from the age of two years. The abnormality thus detected                                                           consists in a less deep fold in Broca's area, a region of the brain specialized                                               in language and communication, functions that are impaired in autistic patients. This discovery may assist in the earlier diagnosis and management of these patients. It has been made possible by the medical imaging processing skills of the Institut de Neurosciences de la Timone (CNRS/Aix-Marseille Université) and access to a homogeneous cohort of patients diagnosed at a very young age and all assessed using the same protocol at the Centre de Ressources Autisme PACA. The results of their collaboration are published on 12 January 2016 in Biological Psychiatry: Cognitive Neurosciences and Neuroimaging.

The autistic spectrum covers a range of neuro-developmental disorders (typical autism, Asperger's syndrome or pervasive developmental disorders not otherwise specified) which mainly affect social relationships and communication. These disorders are associated with abnormal development of the brain. Recent neuroimaging findings have notably suggested the existence of abnormal cortical folding (the formation of convolutions on the surface of the brain). However, standard neuro-anatomical measurement techniques had failed until now to demonstrate any markers specific to each of these disorders, and notably typical autism.

Scientists at the Institut de Neurosciences de la Timone (in Marseille, France) focused on a new geometric marker called the "sulcal pit." This is the deepest point of each sulcus in the cerebral cortex, from which points all the folds on the brain's surface develop. They are therefore put in place at a very early developmental stage, probably under genetic influences, which means they are indicators adapted to comparisons between different individuals.

Based on MRI findings, the scientists observed the sulcal pits of 102 young boys aged 2 to 10 years, who were placed in three groups (those with autistic disorder, pervasive developmental disorder not otherwise specified, and typically developing children). By comparing these three groups, they discovered that in Broca's area (a region known to be involved in language and communication), the maximum depth of a sulcus was less among autistic children when compared with the other two groups. Interestingly, this highly localized atrophy was correlated with the social communication performance of children in the autistic group: the deeper the sulcal pits, the more impaired were their skills in terms of language production.

This abnormality specific to autistic children may therefore constitute a biomarker for the disease that could enable their earlier diagnosis and management, as from the age of two years. Indeed, at present, autism can only be diagnosed based on clinical signs, through the observation of children and interviews with their parents.

This study has also enabled a discovery concerning brain development. While it was previously thought that cortical folding was complete at birth, the scientists observed that some folds (the most superficial) continued to deepen with age and in an identical manner in both autistic and other children. Biomedical research may therefore help to improve our understanding of the mechanisms of life.

Virtual reality training improves social skills of individuals on the autism spectrum:

Although most children with high-functioning autism have above average intellectual capabilities, they often experience social difficulties. Deficits in social communication and difficulty inhibiting thoughts and regulating emotions can lead to social isolation and low self-esteem. However, new research from the Center for BrainHealth at The University of Texas at Dallas shows that a new virtual reality training program is producing positive results.

"Individuals with autism may become overwhelmed and anxious in social situations," said Nyaz Didehbani, Ph.D., a research clinician at the Center for BrainHealth. "The virtual reality training platform creates a safe place for participants to practice social situations without the intense fear of consequence."

Findings published in the journal Computers and Human Behavioral that participants who completed the training demonstrated improved social cognition skills and reported better real-world relationships. Neurocognitive testing showed significant gains in emotional recognition, understanding the perspective of others and the ability to problem solve.

For the study, thirty young people ages 7 to 16 with high-functioning autism were matched into groups of two. The teams completed 10, one-hour sessions of virtual reality training over a 5-week period. Participants learned strategies and practiced social situations such as meeting a peer for the first time, confronting a bully, and inviting someone to a party. Participants interacted with two clinicians through virtual avatars. One clinician served as a coach, providing instructions and guidance, while the other was the conversational partner who played a classmate, bully, teacher or others, depending on the scenario in the video-game-like world.

"This research builds on past studies we conducted with adults on the autism spectrum and demonstrates that virtual reality may be a promising and motivating platform for both age groups," said Tandra Allen, M.S., head of virtual training programs at the Center for BrainHealth. "This was the first study to pair participants together with the goal of enhancing social learning. We observed relationships in life grow from virtual world conversations. We saw a lot of growth in their ability to initiate and maintain a conversation, interpret emotions and judge the quality of a friendship."

"It's exciting that we can observe changes in diverse domains including emotion recognition, making social attribution, and executive functions related to reasoning through this life-like intervention," said Daniel Krawczyk, PhD, associate professor at The University of Texas at Dallas and Debbie and Jim Francis Chair at BrainHealth at the Center for BrainHealth. "These results demonstrate that core social skills can be enhanced using a virtual training method"

Folinic acid could help children with autism communicate better:

Prescription doses of folinic acid, which is a reduced form of a B vitamin known as folate, could help improve the language and communication skills of children with autism spectrum disorder (ASD). These are the preliminary findings from a placebo-controlled trial in which children were randomized to receive either high-dose folinic acid or a placebo, says lead author Richard Frye of Arkansas Children's Research Institute in the US. The study, which is published in Springer Nature's journal Molecular Psychiatry, also identified a specific blood marker that can be used to predict which patients have the best chance to respond to the treatment.

Up to two percent of American children are said to experience symptoms that place them on the autism spectrum. Many of these children have difficulty communicating and interacting with others, especially within a social setting. Researchers do not yet fully understand all the reasons behind the development of ASD and, importantly, there are currently no approved treatments that address the core symptoms of this disorder.

"The only currently approved medications for autism are both antipsychotic medications that address non-core symptoms and can lead to unwanted side effects," says John Slattery, a co-author of the study.

Scientific research has linked this disorder to abnormalities in the metabolism of folate as well as genes that are involved in folate metabolism. Certain studies have also shown that the offspring of women who took folate supplements before conception and during pregnancy had a lower risk of having a child with ASD.

About ten years ago a condition, known as cerebral folate deficiency (CFD), was described in which the concentration of folate is below normal in the central nervous system but not in the blood. Many children with CFD had ASD symptoms and responded well to treatment with high-dose folinic acid.

Previously Frye's team could show that folate receptor autoantibodies were found with a high prevalence in children with ASD. In the current study, these researchers found that participants with folate receptor autoantibodies had a more favourable response to the folinic acid treatment. This leads the way to a test that might be useful for clinicians to determine if high-dose folinic acid might be a treatment for a particular child with ASD. The deleterious effects of folate receptor antibodies on brain development and function are now confirmed in a laboratory rat model.

"Improvement in verbal communication was significantly greater in participants receiving folinic acid as compared with those receiving the placebo," says Frye. He adds that the findings should be considered preliminary until the treatment has been assessed further in larger long-term studies.

The researchers indicated they were very pleased with the positive findings of this study, but caution that more research is needed in order to replicate the findings in a larger population.

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