What genetic mutations cause autism?
It is notable that severe mutations in ankyrin-G are also known to cause intellectual disability and autism. Or, if a person inherits a less severe form of the mutation in ankyrin-G, their synapses develop relatively normally in childhood.
What is the most common genetic cause of autism?
Fragile X syndrome is also the most common known cause of autism or autism spectrum disorders. Even the vast majority of individuals who have fragile X syndrome have not been diagnosed, and family members who carry the trait are completely unaware that their unborn children could also be at risk.
Is autism influenced by genetics?
We know that genetics strongly influence the risk for developing autism spectrum disorder (ASD). However, genetics alone do not account for all instances of autism. For good reason, the increasing prevalence of autism has generated great interest in the potential involvement of toxins in our environment.
Is there a genetic basis for autism spectrum disorders?
Autism spectrum disorders (ASDs) represent a group of developmental disorders with a strong genetic basis. During the past few years, genetic research in ASDs has been successful in identifying several vulnerability loci and a few cytogenetic abnormalities or single-base mutations implicated in the causation of autism.
What are the causes of global developmental delay?
Global developmental delay and intellectual disabilities are common reasons for diagnostic assessment by paediatricians. There are a multiplicity of possible causes many of which have genetic, management and treatment implications for the child and family.
How is genetic aetiology used to diagnose developmental delay?
A genetic aetiology may be suspected by family history, parental consanguinity, prior stillbirths or postnatal deaths of prior offspring. Antenatal history may ascertain adverse toxic or infectious exposures or substantive intrauterine difficulties.
Are there any genetic causes of intellectual disability?
Although the number of genes known to be implicated in intellectual disability has increased substantially over the last decade, the majority of suspected genetic causes presently lack a specific molecular diagnosis.