Two prominent healthcare organizations pooled their medical records to create one of the largest autism clinical databases to date. Please explore the Clinic section of Autism Reading Room to learn more about autism symptoms, diagnosis, and current therapies.
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What is autism?
According to the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition (DSM-5), an autism diagnosis involves challenges in the following two areas:
- Social interactions and communications
- Restricted, repetitive patterns of behavior and interests
The range and degree of autism symptoms falls on a continuum, called the autism spectrum. Therefore, both children with severe deficits as well as those who are mildly affected are considered to have Autism Spectrum Disorder (ASD).
What causes autism?
Researchers are conducting extensive studies to determine how differences in brain development associate with autism characteristics. Many of the studies focus on neurons, a type of cell that can send electric and chemical signals in the central nervous system. The brain uses neurons to process and respond to information received from our five senses: sight, sound, touch, hearing, and taste. Based on these experiments, researchers have developed several theories about autism:
- There are too many connections between neurons in certain brain regions.
- Neurons do not move to the right layers of the brain during fetal development.
- Neurons have an imbalance between their on/off states and emit signals either too frequently or not enough.
- A part of the neuron, called the synapse, that is required for sending and receiving signals does not form properly in autism.
The factors that may contribute to these problems-such as the immune system, cell function, genetic predisposition, and the environment-are even less well understood. The fact that ASD can appear so different between individuals suggests that multiple paths to ASD exist, each path ending in a slightly different set or severity of traits.
Who gets autism?
Some studies have linked an increased age of the father, maternal infection, toxic exposures, or even nutritional inadequacies during pregnancy to the onset of autism. While some of these factors do increase risk, they do not guarantee that a child will develop autism.
Signs that a child has autism can begin as early as three months of age, but many children are not diagnosed until four years of age or older. Because there is no way to determine who will or won't develop autism to date, many hospitals offer autism screening questionnaires around two years of age. To learn more about autism screening, please visit here.
If you would like to read more about autism risk factors, we invite you to explore our Risk Factors topic pages here.
What are the risk factors for autism?
Genetic risk factors relate to errors in our DNA, which means they are present at birth. Genetics play a strong role in the development of Autism Spectrum Disorders (ASDs). Autism is shared among 50 to 70 percent of identical twins, compared with zero to 10 percent of fraternal twins.
Environmental risk factors, however, stem from social, physical, or chemical exposures and can be present during fetal development or months to years after birth. The environmental causes of autism are fiercely debated and extremely controversial. With the exception of a few seldom-used teratogenic drugs, specific environmental factors are linked to autism by association, not causation, and few such factors have been rigorously tested. However, there is compelling evidence that environmental exposures can contribute to neurodevelopmental disorders.
The scientific literature has associated numerous environmental factors with autism. Currently, environmental factors as diverse as parental factors, obstetric complications, vitamin deficiencies, exposures to drugs and environmental contaminants, immune challenge, and socio-economic status have been implicated in autism.
Are there any genetic tests for autism?
However, some genetic tests can guide ASD medical management. At present, these tests can identify a genetic risk factor in 15 to 20 percent of ASD individuals that undergo testing. New techniques, such as next generation sequencing (NGS) and chromosomal microarray analysis (CMA), show promising results for identifying genetic causes in a larger percentage of ASD individuals because of their ability to analyze DNA at higher resolution.
I have a child with autism. Does that mean my next child will have autism?
The researchers reported an overall recurrence risk for full-siblings of seven percent. This means that for every 100 families with autism, seven of those families will have a second child with autism. This study indicates a somewhat lower rate of recurrence than previously reported, a valuable finding for parents.
What other health conditions are associated with autism?
In 2012, researchers surveyed associated conditions in more than 14,000 individuals 35 years of age or younger. The research team identified the prevalence of the following conditions in children and young adults with autism:
- epilepsy (19.4%)
- head anomalies (12.4%)
- bowel disorders (11.7%)
- schizophrenia (2.4%)
- sleeping disorders (1.1%)
- Down syndrome (0.9%)
- tuberous sclerosis (0.8%)
- inflammatory bowel disease (IBD) (0.8%)
- autoimmune disorders (DM1) (0.7%)
- fragile X syndrome (0.5%)
Other conditions sometimes co-diagnosed with autism, but not covered in the above study, include ADHD, irritability, Rett Syndrome, Angelman syndrome, and Dravet's syndrome.
How many people have autism?
I think my child has autism and I'm not sure what to do.
There are two stages for diagnosing autism:
- The first stage is screening, an easy-to-use, general method that identifies a potential risk for developing autism.
- The second stage is diagnostics, an in-depth examination that requires the assessment of cognition, linguistics, and motor skills by a qualified medical team to accurately diagnose the developmental disorder and the degree of the disorder.
A multidisciplinary approach that incorporates clinical evaluations and behavioral observations has been the gold standard for autism diagnosis.
If it's not autism, what else could it be?
What is the range of symptoms for autism?
There are several co-occurring symptoms in autism. These symptoms range in presentation and severity. Children with autism frequently have an intellectual disability, but some children with autism will have normal intelligence. Children with autism may also have seizures, motor abnormalities, anxiety, sleep cycle disturbances, gastrointestinal problems, immune dysfunction and sensory disturbances. Not all the features are present in every child. Instead, a subset of features underlies autism in each individual.
Will my child lead a normal life?
Is there a cure for autism?
A recent scientific study has documented optimal outcome for a group of individuals with autism who have "outgrown" their autism diagnosis (Fien, et al, 2013). Much research is needed to understand how and who will have the optimal outcome in ASD.
There are several therapy options that can help a child with autism enter a typical range of social and cognitive abilities. Behavioral therapies, especially Applied Behavioral Analysis (ABA) and Early Start Denver Model (ESDM), have shown promising results. Additionally, doctors may prescribe pharmaceutical interventions, such as antidepressant medications, to help with commonly associated symptoms.
Reference: Fein D, Barton M, Eigsti IM, Kelley E, Naigles L, Schultz RT, Stevens M, Helt M, Orinstein A, Rosenthal M, Troyb E, Tysons K. (2013). Optimal outcome in individuals with a history of autism. J child Psychol Psychiatry, 54(2):195-205.
How young can my child be for a diagnosis of autism?
M-CHAT is a list of 23 yes-or-no questions about a child's usual behavior for parents of 16- to 30-month-old children. If M-CHAT is used on children younger or older than the age range on which it was validated, or if someone other than the child's parent completes the M-CHAT, the results may not be valid.
The primary goal of the M-CHAT is to maximize sensitivity, meaning to identify as many potential cases of Autism Spectrum Disorder (ASD) as possible. For this reason, M-CHAT tends to have a high false-positive rate (not all children who are found to be at risk for developing ASD using M-CHAT will go on to be diagnosed with ASD). To reduce the false-positive rate, a follow-up interview is suggested.
A 2013 study found that the updated version of the M-CHAT (M-CHAT, Revised with Follow-up) is better at detecting ASD than its previous iteration. At the same time, the newer version of the screening tool classifies a smaller proportion of children as high- or medium-risk-reducing the number of families who would need to pursue follow-up testing.
How much extra intervention will be required for a child with autism?
What are the specific types of therapies available for a child?
- Parent-delivered programs
- Developmental programs
- Occupational programs
- Speech-language therapy
- Small group or 1:1 programs
Check out these other resources for more information about autism therapies.
My child is older and I believe is showing signs of autism. Is it too late for help?
The Social Communication Questionnaire (SCQ) is a parental questionnaire with 40 yes-or-no items. Two forms of the questionnaire are used: current and lifetime. The questionnaire takes less than 10 minutes, and scoring involves a total score with cutoff points. The SCQ is designed for individuals over 4 years of age, with a mental age over 2 years. SCQ is a quick and inexpensive way to routinely screen for Autism Spectrum Disorder (ASD).
The Autism Spectrum Screening Questionnaire (ASSQ) is a 27-item, yes/somewhat/no-style questionnaire meant to assess the symptoms characteristic of high-functioning Autism Spectrum Disorders in children and adolescents. A parent, teacher, or other lay person who knows the child being screened can complete the checklist. Optimal cutoff scores have already been established for the ASSQ to minimize the number of false positives while retaining a high level of ASD identification. ASSQ is an easy, inexpensive, and well-tested screening device for the detection of ASDs.
The Childhood Autism Spectrum Test (CAST), also known as the Childhood Asperger Screening Test, detects Autism Spectrum Disorders (ASDs) in 5- to 11-year-old children by using a parental questionnaire to measure social and communication skills. The CAST questionnaire contains 37 yes-or-no questions about the child's social behaviors and communication tendencies. It also contains a separate special needs section that asks about other disorders that the child might have, for example hyperactivity or a physical disability.
The Autism Diagnostic Interview-Revised (ADI-R) is a 100-item interview that helps diagnose autism in children and adults with a mental age over two years. In most cases, the interview lasts for 1.5 to 2.5 hours, including scoring.
What kinds of medications are available for autism?
Often, physicians can offer relief with certain drugs prescribed in an "off-label" manner. "Off-label" is a term used in the medical community for certain FDA-approved drugs that are prescribed and used for conditions for which they were not originally intended but have therapeutic properties for other diseases.