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Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) contains a group of developmental disorders that vary from mild to severe.  Learning abilities will range from extremely gifted to severely challenged, but all children with ASD will exhibit some form of difference in communication and social interaction.  They will usually experience repetitive behaviors.  Parents are often the first to notice as their child (from infancy to two years old typically) may make little eye contact or become focused on one item, express a lack of interest in being held, or not respond to their own name and yet respond to other sounds.  Some parents will note a sudden loss of skill or a delay in developing basic social, language, and communication skills.  Each child’s differences are their own but will fit into the overall category of ASD.

Children with ASD will often play differently.  For example, they may wish to line items up, yet not interact in pretend social playing.  They may be overly sensitive or insensitive to selective stimuli and change.  For example, they may not allow for interruptions and may grow extremely uncomfortable with a change in plans or an ordinary difference in the household. Behaviors can be repetitive which may indicate self-soothing or rigidity.  For example, there may be body rocking.  There could be an array of emotional regulations because of the difficulty in communicating with others. For example, a misunderstanding of social cues or the inability to handle change and stress can lead to outbursts such as self-harm or tantrums.  On the other hand, they are often extremely focused in one area, which may lead them to develop other interests that come naturally to them, but are most challenging to others.  For example, A child with ASD might be fascinated by dinosaurs and will be able to name every single one by the age of three.  This child could build on that intense focus and specificity to become a mathematician, a superb artist, a musical prodigy, or a gifted scientist. The spectrum is wide and that is why early detection and treatment is so important to unleashing any and all potential.

Children are most commonly diagnosed with Autism Spectrum Disorder between ages 3 to 6 years old. With the beginning of treatment, children begin training in some of the missing social skills that have been slow to develop. They will also need a special educational plan in school, and there could be a co-existing learning disability or intellectual impairment. Honing the social and communication skills that do not develop naturally is a crucial process of treatment and practice. The sooner treatment is started, the better. Children who start treatment earliest and continue treatment will have the highest chance of developing their full potential.

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Causes and Risk Factors

Population rates

While older studies confirmed Autism strikes less than 1% of the American population, with new categorization this number may be closer to 1 in 400.  Both show that is roughly four times as common in men as it is in women. Since the early recognition of autism in the middle of the 20th century, the rate has been steadily increasing. However, it is difficult to parse out how much of this is due to an actual increase, changing diagnostic criteria, or increased awareness.

Parental age

There is evidence suggesting older mothers and fathers are more likely to produce children with Autism Spectrum Disorder. Compared to children whose parents are in their 20s, children of mothers over 35 and fathers over 40 are three times more likely to develop a form of autism. Birth order matters, too, with first born children being at higher risk.

Genetics

Autism has one of the strongest genetic components out of all psychiatric disorders. According to studies of identical twins, genetics accounts for up to 90% of the risk for developing Autism Spectrum Disorder. There are multiple different genetic pathways contributing to autism. About 10% of all autism cases are associated with specific genetic syndromes, like Fragile X Syndrome, Down Syndrome, and Tuberous Sclerosis. New gene analysis techniques are beginning to uncover multiple other genetic changes that contribute to the risk of autism.

Environmental exposures

The human brain is most vulnerable early in development, and a number of prenatal factors are associated with later development of developmental disorders in general and Autism Spectrum Disorder specifically. Prenatal exposure to chemicals like lead, methylmercury, arsenic, some pesticides, and alcohol increases the risk of impaired brain development. Exposure to three medications, thalidomide (an old anti-nausea medication), misoprostol (a medication for treating ulcers), and valproic acid (an anti-seizure medication), directly increases the chances of developing autism. A rubella infection during pregnancy or exposure to the insecticide, chlorpyrifos, also puts the child at higher risk.

Vaccines and autism

There is no good evidence linking Autism Spectrum Disorders to vaccines, including the Measles-Mumps-Rubella vaccine and vaccines containing thimerosal. Multiple studies in the U.S. and other countries including hundreds of thousands of people found no link between whether children receive these vaccines and the development of autism. For more in depth information on the safety of vaccines, the American Academy of Pediatrics has assembled a list of the most important scientific evidence on them and what it means for your child.

Co-occurring disorders

While many children with ASD have mild symptoms, there are up to 70% of people with Autism Spectrum Disorder who have at least one other mental illness and 40% have two. Intellectual differences can range from mild to severe.  Language and communication differences and difficulties appear in about a third of these children. Learning disorders, differences in learning and the development of language and physical coordination skills are noted. Attention Deficit/Hyperactivity Disorder, Major Depressive Disorder, and multiple anxiety disorders also frequently appear. Input from caregivers is crucial for making these diagnoses, especially in children who have difficulty communicating.

Diagnosing Autism Spectrum Disorder

Social difficulties

People with ASD have a range from mild to significant differences in communication. One of the most striking differences can be found in engaging in the natural give and take of a conversation. In addition, people with ASD often miss social cues, so non-verbal communication may be challenging.  Because of this, ASD can impact the ability to make and keep relationships. This can range from challenges in making friends, focused or awkward conversations, limited conversational topics of interest, to avoidance of social interactions. In certain cases, some people may make minimal eye contact and be almost totally non-verbal. On the other hand, some people with ASD offer a wide breadth of knowledge on specific topics and, with learned skills, may develop abilities that correspond well to both conversation and relationships.

Characteristic behaviors

People with ASD display at least two of four different types of distinct behaviors. Differences in communication and learning are key to a diagnosis.  Repetitive behaviors are a classic sign and can include repeated words or phrases, moving or arranging objects, or rocking movements. Another well known behavior is a strict focus on routines. A person may be uncomfortable by even small changes to plans or interruption of tasks. Patients can also have intense interests and spend a great deal of time and energy on rare subjects. They may also be either very sensitive or insensitive to surrounding stimuli, such as lights, sounds, and smells.

Other specifiers

At least some symptoms must have been present from an early age, and they may or may not disrupt work, school, or social life.  Language, communication, and intellectual differences and disorders often accompany Autism Spectrum Disorder.  This can range from the extreme of catatonia, which means there is little response to surroundings and slow, rigid, or repetitive characteristic movements to mild symptoms and differences in language, communication, and intellectual processes.  On the other hand, people characterized with Aspergers Syndrome are usually highly functional and extremely intellectual.

Treating Autism Spectrum Disorder

Starting early

Starting treatment as young as possible is important for reaching full potential, so available treatments usually start in early childhood. The most effective treatments for Autism Spectrum Disorder focus on modifying behavior and teaching communication and self-regulation skills. The most popular technique for doing this is Applied Behavior Analysis, which is usually combined with other skills-based therapies. Ideally, these combined programs start before age 4, last for 1 to 3 years, and involve 25 to 40 total hours of therapies each week.

Applied Behavior Analysis

This treatment involves rewarding desired behavior and discouraging unwanted behavior. This is a highly customizable approach that the therapist will design based on the specific strengths and needs of each person. The therapist works with the family and child to identify age-appropriate goals, and the overarching theme is to increase independence. Parents play a key role in providing structure for skill practice to occur and in reinforcing desired behaviors. The family regularly meets with the therapist to report on progress and continually remodel the plan.

Additional therapies

Speech Therapy helps people who have verbal communication issues, and the Picture Exchange Communication System enables non-speaking people to use picture boards to converse with others. Occupational Therapy focuses on every day skills like eating, bathing, and dressing. Sensory Integration Therapy helps people who are overstimulated by sights, sounds, or being touched. Floortime is an approach meant to develop emotional connections to minimize the self-isolation that often accompanies Autism Spectrum Disorders.

Medication resources

There are no medications approved by the Food and Drug Administration that directly treat the core issues of Autism Spectrum Disorders. However, several medications are useful for managing some of the additional symptoms. Ritalin (methylphenidate) can help patients be more proactive in social situations and aid in situations that require divided attention. Risperdal (risperidone) tames aggression, temper tantrums, and repetitive behaviors. Risperdal and Abilify (aripiprazole) are both F.D.A.-approved for managing irritability as well. Selective serotonin reuptake inhibitors (SSRIs) have been tried as a treatment for repetitive behaviors but are not very useful.

Adult resources

Although some people with autism function well enough in adulthood to live by themselves and work, many need the help of additional support systems throughout their lives. This support system may include either living with their family or parents or staying in a residential care facility (usually a home with a handful of other people with autism and support staff who rotate). The adult person with Autism Spectrum Disorder should be in regular contact with a team of healthcare professionals who specialize in the disorder. Ultimately, the needs of each person will vary, but the general goal of treatment is to promote independence, nurture interpersonal relationships, and involve them as much as possible in directing their own care.

Managing Autism Spectrum Disorder

Early services

Autism screening is performed at regular pediatrician visits between 1 and 2 years of age. Additionally, every state in the U.S. has resources dedicated to the early detection and treatment of autism, and they offer fast and free evaluations. Based on the child’s and the family’s needs, federal law enables them to get customized plans for starting treatment and skills therapies. Once these children start school, the law also calls for unique educational plans tailored to their specific needs with the various possible learning difficulties in mind. There are multiple not-for-profit organizations dedicated to the cause as well. Autism Speaks is dedicated to help people with autism and their families and provides a “100 Day Kit”, which is a great resource for every family with a recently diagnosed child.

Transitioning to adulthood

Preparation for graduation from school and the host of services that go along with it begins around age 16. Employment is important as it gives people a sense of accomplishment, and the search for a fulfilling job begins before graduation. Jobs can range from assisted employment in a structured, supportive environment to individuals working independently, especially in jobs that do not put much strain on social skills and play to their strengths.

While a multitude of people with ASD grow up to lead lives with careers and self direction, because this is a spectrum, there are others who cannot live independently as adults, and others who may need occasional help with more complicated aspects of life.  When independent living is not viable, group style environments with varying levels of assistance with the activities of daily life are often sought for the person.  Again, note that the breadth and depth of the range within this spectrum is wide and studies of adult life are ongoing.

Associated physical health issues

People with Autism Spectrum Disorder have significantly higher rates of multiple health issues than the general public. This includes disturbed sleep, gastrointestinal disorders, seizures, weight problems, high blood pressure, and high cholesterol, with elevated risk of diabetes, strokes, and heart attacks later in life. Beginning in childhood, difficulty getting to sleep and staying asleep because of physical or mental health issues or possible sleep-wake cycle problems is found. Caretakers should help create a regular sleep schedule, and medications such as melatonin can be helpful.

Chronic constipation and diarrhea are two of the most common medical issues experienced. Constipation can usually be addressed with a regular toileting schedule and a diet with enough fiber. However, there are numerous potential causes of chronic diarrhea, and most people with autism will usually end up seeing a gastrointestinal specialist. They also have a higher risk of epilepsy, which requires evaluation by a neurologist. The last few, weight, blood pressure, and cholesterol, should be monitored during regular doctor’s visits and addressed as best as possible with diet and exercise. This can require careful negotiation because autism is frequently accompanied by Avoidant/Restrictive Food Intake Disorder, in which a self-restrictive diet and a low interest in food occurs.

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