Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder
Autism Spectrum Disorder (ASD) is amongst the most familial of psychiatric disorders. Twin and family studies have demonstrated a monozygotic concordance rate of 70–90%, dizygotic concordance of around 10% and more than a 20-fold increase in risk for first-degree relatives. Despite major advances in...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2013-09-01
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| Series: | Frontiers in Human Neuroscience |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fnhum.2013.00567/full |
| _version_ | 1818187850981572608 |
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| author | Valsamma eEapen Valsamma eEapen Rudi eCrncec Amelia eWalter Amelia eWalter |
| author_facet | Valsamma eEapen Valsamma eEapen Rudi eCrncec Amelia eWalter Amelia eWalter |
| author_sort | Valsamma eEapen |
| collection | DOAJ |
| description | Autism Spectrum Disorder (ASD) is amongst the most familial of psychiatric disorders. Twin and family studies have demonstrated a monozygotic concordance rate of 70–90%, dizygotic concordance of around 10% and more than a 20-fold increase in risk for first-degree relatives. Despite major advances in the genetics of autism, the relationship between different aspects of the behavioural and cognitive phenotype and their underlying genetic liability is still unclear. This is complicated by the heterogeneity of autism, which exists at both genetic and phenotypic levels. Given this heterogeneity, one method to find homogeneous entities and link these with specific genotypes would be to pursue endophenotypes. Evidence from neuroimaging, eye tracking and electrophysiology studies supports the hypothesis that, building on genetic vulnerability, ASD emerges from a developmental cascade in which a deficit in attention to social stimuli leads to impaired interactions with primary caregivers. This results in abnormal development of the neurocircuitry responsible for social cognition, which in turn adversely affects later behavioural and functional domains dependent on these early processes, such as language development. Such a model begets a heterogeneous clinical phenotype, and is also supported by studies demonstrating better clinical outcomes with earlier treatment. Treatment response following intensive early behavioural intervention in ASD is also distinctly variable; however, relatively little is known about specific elements of the clinical phenotype that may predict response to current behavioural treatments. This paper overviews the literature regarding genotypes, phenotypes and predictors of response to behavioural intervention in ASD and presents suggestions for future research to explore linkages between these that would enable better identification of, and increased treatment efficacy for, ASD. |
| first_indexed | 2024-12-11T23:17:35Z |
| format | Article |
| id | doaj.art-0e0accde613347a2bfa5c0e4c30233db |
| institution | Directory Open Access Journal |
| issn | 1662-5161 |
| language | English |
| last_indexed | 2024-12-11T23:17:35Z |
| publishDate | 2013-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Human Neuroscience |
| spelling | doaj.art-0e0accde613347a2bfa5c0e4c30233db2022-12-22T00:46:27ZengFrontiers Media S.A.Frontiers in Human Neuroscience1662-51612013-09-01710.3389/fnhum.2013.0056758312Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum DisorderValsamma eEapen0Valsamma eEapen1Rudi eCrncec2Amelia eWalter3Amelia eWalter4University of New South WalesSouth Western Sydney Local Health DistrictUniversity of New South WalesUniversity of New South WalesSouth Western Sydney Local Health DistrictAutism Spectrum Disorder (ASD) is amongst the most familial of psychiatric disorders. Twin and family studies have demonstrated a monozygotic concordance rate of 70–90%, dizygotic concordance of around 10% and more than a 20-fold increase in risk for first-degree relatives. Despite major advances in the genetics of autism, the relationship between different aspects of the behavioural and cognitive phenotype and their underlying genetic liability is still unclear. This is complicated by the heterogeneity of autism, which exists at both genetic and phenotypic levels. Given this heterogeneity, one method to find homogeneous entities and link these with specific genotypes would be to pursue endophenotypes. Evidence from neuroimaging, eye tracking and electrophysiology studies supports the hypothesis that, building on genetic vulnerability, ASD emerges from a developmental cascade in which a deficit in attention to social stimuli leads to impaired interactions with primary caregivers. This results in abnormal development of the neurocircuitry responsible for social cognition, which in turn adversely affects later behavioural and functional domains dependent on these early processes, such as language development. Such a model begets a heterogeneous clinical phenotype, and is also supported by studies demonstrating better clinical outcomes with earlier treatment. Treatment response following intensive early behavioural intervention in ASD is also distinctly variable; however, relatively little is known about specific elements of the clinical phenotype that may predict response to current behavioural treatments. This paper overviews the literature regarding genotypes, phenotypes and predictors of response to behavioural intervention in ASD and presents suggestions for future research to explore linkages between these that would enable better identification of, and increased treatment efficacy for, ASD.http://journal.frontiersin.org/Journal/10.3389/fnhum.2013.00567/fullphenotypeGenotypeAutism spectrum disorder (ASD)treatment responseEarly Intervention |
| spellingShingle | Valsamma eEapen Valsamma eEapen Rudi eCrncec Amelia eWalter Amelia eWalter Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder Frontiers in Human Neuroscience phenotype Genotype Autism spectrum disorder (ASD) treatment response Early Intervention |
| title | Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder |
| title_full | Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder |
| title_fullStr | Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder |
| title_full_unstemmed | Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder |
| title_short | Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder |
| title_sort | exploring links between genotypes phenotypes and clinical predictors of response to early intensive behavioural intervention in autism spectrum disorder |
| topic | phenotype Genotype Autism spectrum disorder (ASD) treatment response Early Intervention |
| url | http://journal.frontiersin.org/Journal/10.3389/fnhum.2013.00567/full |
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