Autism and intellectual disability are conditions that can have many contributing factors. A genetics assessment can help families understand whether genetic factors may be part of the picture, particularly in moderate or severe disability, where a genetic explanation is more often identified. This page provides a short overview and an introduction to where genetics can help.
Autism spectrum disorder (ASD) and intellectual disability (ID) are different conditions, though they sometimes occur together. Both affect how a child or adult develops, learns, communicates and interacts with the world, in ways that vary widely from person to person. Every individual is different, and these conditions are only one part of who a person is.
The causes are varied. For some people, environmental and developmental factors contribute. For others a genetic difference explains why it has occurred. Severe and moderate disability is more often associated with an identifiable genetic cause, while milder presentations are less likely to have a diagnosable genetic explanation. A genetics assessment can help clarify whether genetic factors may be relevant.
A genetics assessment is most likely to add useful information when intellectual disability is present (versus learning difficulties) and when there are additional features such as differences in growth or appearance, or a family history of similar conditions. In autism, a genetic assessment is important to consider, particularly where a person has more severe level 2 or 3 ASD and where it occurs alongside intellectual disability or other developmental differences.
Assessment usually involves a discussion of personal and family history. Physical features can sometimes guide the clinician toward a particular condition or testing approach. Although a physical assessment is an important part of the assessment, we often use telehealth to allow the initial appointment to be done from your home. This can be very helpful for a child with moderate or severe autism spectrum disorder.
Referrals most often come from paediatricians and general practitioners, and sometimes from neurologists, psychiatrists and other specialists.
