080210xf's Blog

L'X fragile sera vaincu | Fragile X will be conquered

How do the Behaviors Seen in Persons with Fragile X Relate to Those Seen in Autism?

The National Fragile X Foundation |

Many parents are confused about their child’s diagnosis. On the one hand, they’ve been told that their child has autism, “autistic spectrum disorder,” or some degree of autistic-like characteristics. In addition, they may have also been told that their child has fragile X syndrome or that he or she is going to be tested for fragile X.

The association between autism and fragile X was first reported by Brown et al. (1982) and was subsequently confirmed by many others leading to an extensive field of research. In discussing this association it is important to remember that autism is defined behaviorally using the criteria of the DSM IV manual which include lack of social reciprocity or responsiveness, abnormal use of language and communication, and a restricted repertoire of activities and interests. Autism is a heterogenous disorder which means that there are several known causes of autism including phenylketonuria (PKU), tuberous sclerosis and 15q duplications. However fragile X is the most common known cause of autism so far identified. Autism is strongly genetic and it is likely that the inheritance of multiple genes predisposing an individual to autism is necessary in many cases for the full behavioral syndrome to be manifested.

The typical features of fragile X syndrome (FXS) i.e. hand biting, hand flapping, poor eye contact, shyness, and social anxiety are probably related to the sensory hyperarousal that has been documented by many investigators including Belser and Sudhalter (1995), Miller et al. (1999), and Roberts et al.(2002). These features are often also referred to as autistic-like features because they can be seen in individuals who have autism without fragile X. Most children with fragile X, however, are interested in social interactions and do not meet the diagnostic criteria for autism.


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