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Genetic and Rare Diseases Information Center (GARD)

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Asperger syndrome


* Not a rare disease
Other Names for this Disease
  • Asperger disorder
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Your Question

Is genetic testing available for Asperger syndrome? Is fragile X syndrome associated with Asperger syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Asperger syndrome?

Asperger syndrome is a developmental disorder and falls within the autism spectrum disorders. However, unlike children with autism, children with Asperger syndrome retain their early language skills. Signs and symptoms of Asperger syndrome may include obsessive interest in a particular topic or object, formal or advanced speech patterns, repetitive routines, peculiarities in speech and language, socially and emotionally inappropriate behavior, difficulty interacting with peers, difficulties with non-verbal communication, and often a history of delays in motor skills such as pedaling a bike, catching a ball, or climbing.[1]
Last updated: 11/11/2009

Is genetic testing for Asperger syndrome available?

Genetic testing for pervasive developmental disorders including Asperger syndrome is available. Genetic testing for Asperger syndrome is complex as different approaches to testing may be recommended depending on the signs and symptoms present in the child or adult. If you or some one you know is considering genetic testing for Asperger syndrome we recommend that you speak with a genetics professional. Genetic professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.

Last updated: 11/11/2009

What is fragile X syndrome?

Fragile X syndrome is a genetic condition involving changes in part of the X chromosome.[2] This condition causes a range of developmental problems including learning disabilities and cognitive impairment.[3] It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females.[2]  Fragile X syndrome is caused by a change in the FMR1 gene.[2][3] Fragile X syndrome is inherited in an X-linked dominant pattern.[3]
Last updated: 6/23/2011

Is Fragile X syndrome associated with Asperger syndrome?

Fragile X syndrome can cause a child to have autism or an autism spectrum disorder (ASD) such as Asperger syndrome; however not all children with fragile X syndrome have autism or an ASD. According to the National Fragile X Foundation 2% to 6% of children diagnosed with autism have the Fragile X gene mutation. Around one-third of children diagnosed with fragile X syndrome have some degree of autism.[4] Click here to visit the National Fragile X Foundation information page on Fragile X and Autism to learn more.
Last updated: 11/11/2009