Why Family Studies?

The heterogeneity of ASD poses both challenges and opportunities to researchers: challenges, because there are likely to be many different causal factors and trajectories for ASD subtypes, and opportunities, because recognition of the variety of ASD phenotypes can lead to more appropriate diagnosis, more precisely targeted treatments and supports, and can increase public awareness about the diversity inherent in ASD.

We know that not all cases of ASD are the same. Researchers have learned that there are many factors that vary amongst the symptoms and the severity of the symptoms associated with ASDs. Other factors such as the age-of-onset, as well as the strengths and weaknesses that individuals with an ASD possess, also vary a great deal. ASD-CARC researchers believe that by identifying and studying these variable characteristics, also called “profiling”, we will be able to classify distinct subgroups of ASDs – subgroups that will have similar etiologies and respond to the same therapies or have the same support needs.


Importance of Autism Profiles and Identifying Sub-Groups

By studying Autism Profiles, we hope to identify different subgroups of ASD. These subgroups will provide clues that will help us understand some of the very earliest signs of developmental differences or anomalies.

We believe that the distinctive subgroups of ASDs may respond differently to a variety of treatments (e.g., dietary, ABA, educational strategies). Very careful clinical assessments will hopefully lead to our separating families into different subgroups based on subtle differences in the behaviour/symptoms and/or physical features of the affected individuals (i.e. through the creation of Autism Profiles).

It is important to learn whether genetic or environmental differences exist that could account for subgroups of ASDs, and the different responses to the variety of treatments and supports used with individuals with an ASD.

Since some characteristics are familial, rather than specific to an ASD, we encourage all family members to take part in all of our studies. This includes the individuals with ASD, parents and typically developing siblings or other family members.

Physical Features

In terms of physical features, researchers have found that abnormalities of ears are common in autism, but we know that not all children with autism have abnormal ears. If we study a subgroup of children with these ear anomalies, will these children have other characteristics in common that, together, might constitute a clinical subgroup or "Autism Profile"? Studying groups of children with ASD who share physical or behavioural features is more likely to give us a clearer picture of ASD "subgroups" than if we combine our findings on all children with ASD.

In order to identify physical differences that are not evident to the naked eye, we are using 3D-facial imaging to study the faces of individuals with ASDs and their family members. These cameras are located at some of our sites, as well as within the Mobile Labs. We have identified some differences in the faces of individuals with ASDs that are not detectable except through this technology and believe that this will lead us to better understanding early developmental differences that occur in the formation of the brain and facial features of persons with ASDs and related disorders.


Behavioural Characteristics

It is also true that there are marked differences in the behavioural or neurophysiological characteristics in children and adults with ASDs. One subgroup of children may have, for example, gastrointestinal problems or sleep disorders. Ultimately, we want to compare each "subgroup" (defined on behavioural or physical features) using genetic studies, to determine whether there is a common clinical/behavioural profile associated with each set of genetic differences ("genotype") or environmental exposures.

Some of the behavioural characteristics we are interested in measuring in children with ASD are those being assessed through our on-line questionnaire studies (sleep problems, gastrointestinal and diet problems). All families are encouraged to participate in these on-line studies!