Case-Control Family Study of Lesser Variant Traits in Autism

Wilcox, John M.; Tsuang, Ming T.; Schnurr, Thomas; Baida-Fragoso, Nicolas

doi:10.1159/000071210

Cited by 24 publications

(17 citation statements)

References 43 publications

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“…The finding that very few mothers were admitted with only one psychiatric diagnosis most likely reflects the diagnostic practice in Denmark. However, we were unable to find differential effects according to specific psychiatric disorders, whereas higher rates of affective disorders and social phobia in relatives of people with autism compared to a control group have been found in other studies (Piven et al, 1991; DeLong & Nohria, 1994; Smalley, McCracken, & Tanguay, 1995; Bolton, Pickles, Murphy, & Rutter, 1998; Piven & Palmer, 1999; Wilcox, Tsuang, Schnurr, & Baida‐Fragoso, 2003).…”

Section: Psychiatric Disorders In Siblings and Parentscontrasting

confidence: 98%

Effects of familial risk factors and place of birth on the risk of autism: a nationwide register‐based study

Lauritsen

Pedersen

Mortensen

2005

Child Psychology Psychiatry

303

249

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Section: Psychiatric Disorders In Siblings and Parentscontrasting

confidence: 98%

Effects of familial risk factors and place of birth on the risk of autism: a nationwide register‐based study

Lauritsen

Pedersen

Mortensen

2005

Child Psychology Psychiatry

303

249

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“…Our data links a deficit of CTNNB1 in PV interneurons directly to autistic-like behaviors. First, cKO of CTNNB1 in the PV interneurons causes anxiogenic effect in the OFT and EPM, but does not elicit depression-like behaviors, which is consistent with the increased anxiety in patients with ASD (55). Second, CTNNB1 cKO alters multiple cognitive functions.…”

Section: Discussionsupporting

confidence: 62%

Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects

et al. 2016

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Mutations in β-catenin (CTNNB1) have been implicated in cancer and mental disorders. Recently, loss-of-function mutations of CTNNB1 were linked to intellectual disability (ID), and rare mutations were identified in patients with autism spectrum disorder (ASD). As a key regulator of the canonical Wnt pathway, CTNNB1 plays an essential role in neurodevelopment. However, the function of CTNNB1 in specific neuronal subtypes is unclear. To understand how CTNNB1 deficiency contributes to ASD, we generated CTNNB1 conditional knockout (cKO) mice in parvalbumin interneurons. The cKO mice had increased anxiety, but had no overall change in motor function. Interestingly, CTNNB1 cKO in PV-interneurons significantly impaired object recognition and social interactions and elevated repetitive behaviors, which mimic the core symptoms of patients with ASD. Surprisingly, deleting CTNNB1 in parvalbumin-interneurons enhanced spatial memory. To determine the effect of CTNNB1 KO in overall neuronal activity, we found that c-Fos was significantly reduced in the cortex, but not in the dentate gyrus and the amygdala. Our findings revealed a cell type-specific role of CTNNB1 gene in regulation of cognitive and autistic-like behaviors. Thus, this study has important implications for development of therapies for ASDs carrying the CTNNB1 mutation or other ASDs that are associated with mutations in the Wnt pathway. In addition, our study contributes to a broader understanding of the regulation of the inhibitory circuitry.

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“…High rates of obsessive compulsive disorder have also been found in the relatives of autistic probands compared to control groups (Wilcox et al 2003). Moreover, high numbers of obsessive-compulsive traits in parents have been linked to high scores in the autistic proband on the repetitive behaviour domain of the Autism Diagnostic Interview-Revised; correlations were strongest between fathers and child (Hollander et al 2003).…”

Section: Other Psychiatric Conditionsmentioning

confidence: 99%

Autistic Traits Below the Clinical Threshold: Re-examining the Broader Autism Phenotype in the 21st Century

2011

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Diagnosis, intervention and support for people with autism can be assisted by research into the aetiology of the condition. Twin and family studies indicate that autism spectrum conditions are highly heritable; genetic relatives of people with autism often show milder expression of traits characteristic for autism, referred to as the Broader Autism Phenotype (BAP). In the past decade, advances in the biological and behavioural sciences have facilitated a more thorough examination of the BAP from multiple levels of analysis. Here, the candidate phenotypic traits delineating the BAP are summarised, including key findings from neuroimaging studies examining the neural substrates of the BAP. We conclude by reviewing the value of further research into the BAP, with an emphasis on deriving heritable endophenotypes which will reliably index autism susceptibility and offer neurodevelopmental mechanisms that bridge the gap between genes and a clinical autism diagnosis.

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Case-Control Family Study of Lesser Variant Traits in Autism

Cited by 24 publications

References 43 publications

Effects of familial risk factors and place of birth on the risk of autism: a nationwide register‐based study

Effects of familial risk factors and place of birth on the risk of autism: a nationwide register‐based study

Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects

Autistic Traits Below the Clinical Threshold: Re-examining the Broader Autism Phenotype in the 21st Century

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