Fragile X syndrome
Other Names for this Disease
- Marker X syndrome
- Martin-Bell syndrome
- FRAXA syndrome
- Fra(X) syndrome
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Your QuestionIs genetic testing available for Asperger syndrome? Is fragile X syndrome associated with Asperger syndrome?
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Questions on this page
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.
Last updated: 6/8/2015
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
Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features. Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner. There is no cure yet and treatment is based on the symptoms present in the person. Early physical and education therapy is recommended.
Last updated: 5/12/2016
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. Click here to visit the National Fragile X Foundation information page on Fragile X and Autism to learn more.
Last updated: 11/11/2009
- Asperger Syndrome. NINDS. November 6, 2014; http://www.ninds.nih.gov/disorders/asperger/asperger.htm.
- Asperger syndrome. Genetics Home Reference. July, 2011; http://ghr.nlm.nih.gov/condition/asperger-syndrome.
- Fragile X syndrome. MedlinePlus. 2016; http://www.nlm.nih.gov/medlineplus/ency/article/001668.htm.
- Fragile X syndrome. Genetics Home Reference. April 2012; http://www.ghr.nlm.nih.gov/condition/fragile-x-syndrome.
- Saul RA & Tarleton JC. FMR1-Related Disorders. GeneReviews. April 26, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1384/.
- Autism and Fragile X Syndrome. The National Fragile X Foundation. http://www.fragilex.org/html/autism_and_fragile_x_syndrome.htm. Accessed 11/11/2009.