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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Fragile X syndrome

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Other Names for this Disease
  • Fra(X) syndrome
  • FraX syndrome
  • FRAXA syndrome
  • FXS
  • Marker X syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns. Unlike many people with autism, those with AS retain their early language skills. Features of AS include an obsessive interest in a particular object or topic; high vocabulary; formal speech patterns; repetitive routines or habits; inappropriate social and emotional behavior; impaired non-verbal communication; and uncoordinated motor skills. AS is likely caused by a combination of genetic and environmental influences. While autism spectrum disorders including AS sometimes run in families, no specific inheritance pattern has been recognized.[1][2]
Last updated: 6/8/2015

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. 
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.[3] This condition causes a range of developmental problems including learning disabilities and cognitive impairment.[4] It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females.[3] Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features.[4] Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner.[3][4]
Last updated: 1/29/2015

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.[5] Click here to visit the National Fragile X Foundation information page on Fragile X and Autism to learn more.
Last updated: 11/11/2009

References
Other Names for this Disease
  • Fra(X) syndrome
  • FraX syndrome
  • FRAXA syndrome
  • FXS
  • Marker X syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.