- Sensitivity to changes in routine
- Repetitive body movements
- Overly focused interests, such as with moving objects or parts of objects
- Lasting, intense interests in certain topics, such as numbers, details, or facts.
- Difficulty making friends
- Unable to play interactive games
- No response to eye contact or smiles, or may avoid eye contact
- Prefers to be alone rather than with others
- Unable to show empathy
- Develops language slowly or not at all
- Trouble starting and maintaining a conversation
- Uses gestures instead of words
- Speaks at length about a favorite subject without noticing that others are not interested or without giving others a chance to respond
- Uses words that seem odd, out of place, or have a special meaning known only to those familiar with that person’s way of communicating
- Facial expressions, movements, and gestures may not match what is being said
- Unusual tone of voice that may sound sing-song or flat and robot-like
- Doesn’t point to show other people objects (normally occurs in the first 14 months of life)
- Repeats words or memorized passages, such as commercials
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
- Male gender
- Having a sibling with ASD
- Having older parents (a mother who is 35 or older, and/or a father who is 40 or older when the baby is born)
- Having certain genetic conditions (including Down syndrome, fragile X syndrome, and tuberous sclerosis)
- Exposure to certain prescriptive medications during pregnancy (such as valproic acid, thalidomide)
Of note, no scientific evidence for a relationship between vaccines and autism has been identified.
- Motor skills
- Success in school
- Thinking abilities
- Applied behavior analysis (ABA)
- Occupational therapy
- Physical therapy
- Speech-language therapy
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
- The Autism Speaks organization has information about the many opportunities that are available for families who want to participate in autism research. Click on the link to learn more about the way families can participate.
- The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
- ClinicalTrials.gov lists trials that are studying or have studied Autism spectrum disorder. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
- The National Database for Autism Research (NDAR) is a collaborative biomedical informatics system being created by the National Institute of Health (NIH) to provide a national resource to support and accelerate research in autism.
- The Investigation of Genetic Exome Research (TIGER) study is enrolling research participants ages 4 to adult to participate in a study exploring how specific genetic events may contribute to Autism Spectrum Disorders and related developmental disorders. Click on the link for a list of gene mutations currently being studied. If you are interested in learning more, please contact the study coordinator at 206-616-2889 or email@example.com.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
- Autism Society of America
4340 East-West Highway, Suite 350
Bethesda, MD 20814-3067
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
- To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
- The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.
- The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The Autism Society of America is a support organization for individuals and families affected by autism spectrum disorders. Click on the link to view their information page on ASD.
- You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Human Genome Research Institute (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Institute of Mental Health (NIMH) has information on this topic. NIMH is part of the National Institutes of Health and is dedicated to understanding, treating, and preventing mental illnesses.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Autism spectrum disorder. Click on the link to view a sample search on this topic.
News & Events
NCATS Co-Sponsored Conferences
2015 International Tuberous Sclerosis Complex Research Conference: From Treatment to Prevention Thursday, September 10, 2015 – Saturday, September 12, 2015
Location: Mercure Windsor Castle Hotel, Windsor, United Kingdom
Description: The goal of this international conference is to stimulate collaborative research to address unmet medical needs of those affected by tuberous sclerosis complex (TSC) and related disorders, including autism, epilepsy, lymphangioleiomyomatosis (LAM), cancer, and rare diseases with overlapping phenotypes. Because of the wide variety of symptoms associated with TSC, research into TSC will increase knowledge relevant to similar symptoms that occur in individuals without TSC. Likewise, advances in the broader fields of autism, epilepsy, and cancer can improve the understanding and, therefore, the treatment of TSC.
Contact: Dr. Laura Mamounas,(301) 496-5745,firstname.lastname@example.org
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
- Autism Spectrum Disorder. MedlinePlus. May 2016; https://medlineplus.gov/ency/article/001526.htm.
- James Robert Brasic, MD, MPH. Autism. Medscape Reference. November 2016; http://emedicine.medscape.com/article/912781-overview.
- Autism Spectrum Disorder. National Institute of Mental Health. October 2016; https://www.nimh.nih.gov/health/topics/autism-spectrum-disorders-asd/index.shtml.
- Facts About ASD. Centers for Disease Control and Prevention. March 2016; https://www.cdc.gov/ncbddd/autism/facts.html.
- Learning About Autism. National Human Genome Research Institute. November 2012; https://www.genome.gov/25522099.