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Autism Spectrum Disorder (ASD) is a condition in which the development of the neuropsychological system results in lasting difficulties with social cues and communication. It may also result in repetitive behaviors and strong focused interests or activities. The name of the disorder has recently been updated to include the word “spectrum,” so as to note that the severity of symptoms can vary significantly between individuals. In some countries, the term “pervasive developmental disorder” (PDD) is used. ASD is found in about 1 in 40 to 1 in 500 people and is being increasingly recognized in children. ASD can result in a varying degree of social and behavioral functional difficulties. Management is customized for each person and focuses on maximizing functioning and improving quality of life.
Repetitive or stereotyped behaviors may be developed, such as rocking back and forth, hand-flapping, or spinning objects Focus on routines with inability to be flexible or particular difficulty with change Development of strong special interests that are very specific and in depth Difficulty with language, such as having difficulty with back-and-forth conversation or difficulty with metaphors, sarcasm, or figures of speech Social interactions may be atypical, such as: not showing warm interactions with parents or not turning to parents for assistance not having interest in socializing with others such as friends or not developing friendships not understanding or acknowledging others’ perspectives not being able to infer another person’s feelings, emotions, or intentions. This may be noticed with real world interactions or with books Some people with ASD may have special skills (sometimes termed a “savant”) in a particular cognitive function, such as memory, art, muscle, or mathematics
Early symptoms – more subtle findings are often present within the first two years of life Developmental milestones may not be met, especially such as those that involve social-emotional skills or language skills Social-emotional behaviors such as pointing, making eye contact, sharing emotional connections with others, or responding to name may be lacking Difficulty with taking turns in play or conversation may be prominent Fewer facial expressions or gestures may be present Mimicry – or demonstrating the expressions or activity of others – may be absent
He or she will also screen for other commonly associated conditions including seizure disorders, depression, anxiety, learning disorders, or attention disorders. ASD can have a genetic component and run in families, so the specialist will evaluate for any family history of ASD, intellectual difficulties, language disorders, ADHD, seizures, obsessive-compulsive disorder, or mood disorders. The specialist should rule out other syndromes which can cause ASD-like symptoms, including fragile X syndrome, Rett syndrome, Angelman syndrome, tuberous sclerosis complex, Prader-Willi syndrome, or Smith-Lemli-Opitz syndrome. This involves a physical exam and possible other testing. There are multiple specially developed diagnostic tools for ASD. The specialist should have undergone extensive testing with the chosen diagnostic tool. Common options include the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule-2nd edition (ADOS-2), Childhood Autism Rating Scale 2nd edition (CARS-2), or Gilliam Autism Rating Scale (GARDS). Additional supplemental testing may be pursued by a speech language pathologist and/or an occupational therapist. Vision and hearing testing should be pursued. Lead poisoning should be ruled out. If ASD is diagnosed, the next step is to assess severity. Using scales such as the Vineland Adaptive Behavior Scale or the Adaptive Behavior Assessment System, the provider can assess the severity of difficulties with social communication or repetitive/restricted behavior and make recommendations for how much support is needed.
The cause of ASD is not fully understood. While it is known that the brain development and neural connectivity is abnormal, the cause is not fully known. ASD is more common in males than females and is more common amongst siblings or family members of someone with ASD. There are a variety of other genetic conditions with features similar to ASD. These aspects suggest a genetic component. There has been no single gene identified as causing ASD. It is thought a person may have a genetic predisposition to ASD and may have some “epigenetic” factors (nongenetic factors that alter gene expression) that lead to activation of genes that contribute to ASD. Suspected epigenetic factors include advanced parental age, toxic exposures, perinatal illnesses, and prenatal infections. Importantly, there is no scientific evidence to support any association between immunizations (vaccines) and Autism.
No single therapy has been proven to have the highest efficacy, and they are often layered together. Individualizing educational programming with a high staff to student ratio Utilize teachers with special training and expertise in ASD Ongoing reassessment and adjustment of programming Curriculum that focuses on non-verbal communication, imitation, attention, social interaction, play, regulation of behavior and emotions, and self-advocacy Interventional models that have been specially developed for ASD, such as Discrete trial training (DTT), Pivotal response training (PRT), Early intensive behavioral intervention (EIBI), or Applied Behavior Analysis (ABA) Ensuring that there is consistent structure with predictability Family involvement in management Planning for transitions, such as between school grades, entering the workplace, etc. Intensive volume of programming, often involving at least 25 hours
Medications may be used in some cases of ASD to help with targeted symptoms, such as: Hyperactivity or inattention Anxiety Depressive symptoms Sleep difficulties Physical aggression or self-injury Repetitive or obsessive compulsive behaviors While there is limited scientific research on complementary or alternative therapies such as the use of supplements or special diets, families sometimes choose to pursue this. This should be discussed with the whole treating team.
There is no cure for ASD, but typically the symptoms of ASD can improve or minimize to decrease disability. Early identification, participation in interventions, and inclusion with general peers have been associated with a more functional outcome.
NeuroX is a project of American TelePhysicians, founded in 2020 in Jacksonville, Florida, intending to become a complete & comprehensive neuro & psych care portal. NeuroX provides both patients and providers the resources and tools needed to ensure outstanding integrated neurological, psychological & psychiatric clinical care with efficiency and cost savings.