Dr. Kim Cornish – Cornish Research Team, McGill University

Autism Spectrum Disorder - Research Project

Investigating the effectiveness of a social pragmatic parent-training intervention for caregivers of children diagnosed with Autism Spectrum Disorder (ASD).

This research will highlight if children demonstrate changes in preverbal communication skills following an intervention that specifically teaches parents how to create synchronous communicative exchanges with their children with ASD during their daily living activities. The results of this study will contribute to our understanding of the social communication impairments of children with ASD and aid in the education and our inclusion of such children.

Fragile X and Autism

Using perceptual signatures to dissociate the pathophysiology underlying behavioral phenotypes in fragile X syndrome: fragile X syndrome with and without autism.

Identifying impairments that distinguish children with differing developmental disorders from each other and from typically developing children is a potentially powerful tool for early identification and treatment of syndrome specific proficiencies and deficiencies. Fragile X Syndrome (FXS) is the world's most common hereditary cause of mental retardation affecting 1 in 4000 males. Autistic Disorder (AD) is a pervasive developmental condition with a neurobiological basis and behavioral definition characterized by lack of social reciprocity, poor use of language and communication and a restricted, repetitive repertoire of activities and interests.

Behaviorally, FXS manifests itself with and without autistic features, with up to 33% of FXS individuals fulfilling a clinical diagnosis of autism. The purpose of the proposed studies is to dissociate the underlying pathophysiology of the behavioral phenotypes in FXS using perceptual signatures; characteristic perceptual performance defining low-level visuo-information processing abilities.

Perceptual signatures have been used previously to define the neural etiology of perceptual mechanisms in both FXS and high-functioning autism. However no study to date has examined whether FXS with a dual diagnosis of autism compared to children with FXS alone or autism alone share common or distinct perceptual signatures.

In the proposed study, clinical groups will be comprised of (1) children with a dual diagnosis of FXS and autism (FXS + AD), (2) children with FXS alone (FXS), and children with AD (AD) only. Performance will also be compared to that of typically developing children matched to the clinical groups on developmental level and on chronological age. Perceptual signatures for all groups will be assessed using motion and form tasks demonstrated to effectively and selectively assess dorsal and ventral visual stream processing at both early (striate) and later (post-striate) levels in typical and atypical populations. The demonstration of distinct or common perceptual signatures for behavioral phenotypes in FXS will play a major role in dissociating their underlying pathophysiology.

This knowledge will significantly facilitate our understanding of how the Fragile X pathways (neural and cognitive) may be implicated in autism, and will help to prevent misdiagnosis that can result in inappropriate remediation (clinical and academic) that fails to target an affected child's syndrome specific strengths and difficulties.