Autism and Williams syndrome: truly mirror conditions in the socio-cognitive domain?

Niego, Amy; Benítez‐Burraco, Antonio

doi:10.1080/20473869.2020.1817717

Cited by 8 publications

(5 citation statements)

References 207 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Overall, these findings point to changes in intrathalamic and transthalamic routes as an important cause of the perceptual, motoric, interoceptive, emotional, and cognitive impairments found in ASDs. Specifically, socio-cognitive similarities between ASDs and WS may stem from the disruption of striatal and thalamic connections, particularly in the domain of face processing and theory of mind (involving the thalamus), reward behavior (involving the striatum), and attention switching (involving the striatum and the thalamus; see Niego & Benítez-Burraco, 2020, for a recent review). Finally, in subjects with WS, the cerebellum exhibits volume alterations that can be associated with their distinctive cognitive, affective, and motor features (Osório et al, 2014).…”

Section: Resultsmentioning

confidence: 99%

Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Niego

Benítez‐Burraco

2020

Autism

Self Cite

View full text Add to dashboard Cite

Autism spectrum disorders and Williams syndrome exhibit quite opposite features in the social domain, but also share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of subjects with these two conditions. We found a significant overlap between differentially expressed genes compared to neurotypical controls, with most of them exhibiting a similar trend in both conditions, but with genes being more dysregulated in Williams syndrome than in autism spectrum disorders. These genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Lay abstract Autism spectrum disorders and Williams syndrome are complex cognitive conditions exhibiting quite opposite features in the social domain: whereas people with autism spectrum disorders are mostly hyposocial, subjects with Williams syndrome are usually reported as hypersocial. At the same time, autism spectrum disorders and Williams syndrome share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of people with these conditions. We found a significant overlap between genes dysregulated in the blood of patients compared to neurotypical controls, with most of them being upregulated or, in some cases, downregulated. Still, genes with similar expression trends can exhibit quantitative differences between conditions, with most of them being more dysregulated in Williams syndrome than in autism spectrum disorders. Differentially expressed genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Overall, these genes emerge as promising candidates for the similarities and differences between the autism spectrum disorder and the Williams syndrome socio-cognitive profiles.

show abstract

Section: Resultsmentioning

confidence: 99%

Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Niego

Benítez‐Burraco

2020

Autism

Self Cite

View full text Add to dashboard Cite

show abstract

“…This is consistent with observations in humans that neurodevelopmental disorders manifest as a spectrum of conditions, and patients can even exhibit apparently opposite behaviors. For example, excessive social behavior is a characteristic of Williams syndrome, which is often depicted as anti-ASD, even though both disorders share social cues blindness and many brain pathologies [ 57 , 58 ]. Furthermore, ASD phenotypes are, in fact, prevalent in this disorder [ 59 – 61 ].…”

Section: Discussionmentioning

confidence: 99%

Astrocytic β-catenin signaling via TCF7L2 regulates synapse development and social behavior

Szewczyk,

Lipiec,

Liszewska

et al. 2023

Mol Psychiatry

View full text Add to dashboard Cite

The Wnt/β-catenin pathway contains multiple high-confidence risk genes that are linked to neurodevelopmental disorders, including autism spectrum disorder. However, its ubiquitous roles across brain cell types and developmental stages have made it challenging to define its impact on neural circuit development and behavior. Here, we show that TCF7L2, which is a key transcriptional effector of the Wnt/β-catenin pathway, plays a cell-autonomous role in postnatal astrocyte maturation and impacts adult social behavior. TCF7L2 was the dominant Wnt effector that was expressed in both mouse and human astrocytes, with a peak during astrocyte maturation. The conditional knockout of Tcf7l2 in postnatal astrocytes led to an enlargement of astrocytes with defective tiling and gap junction coupling. These mice also exhibited an increase in the number of cortical excitatory and inhibitory synapses and a marked increase in social interaction by adulthood. These data reveal an astrocytic role for developmental Wnt/β-catenin signaling in restricting excitatory synapse numbers and regulating adult social behavior.

show abstract

“…Individuals with WS exhibit difficulties in the social arena that overlap with ASD, with about 20% of children with WS meeting the diagnostic criteria for ASD [185,186]. Parents of children with WS often report poor social skills, difficulties with understanding important social cues, and difficulty maintaining friendships, as well as behavioral traits of inflexibility, ritualism, compulsiveness, and obsessional tendencies [187]. Pragmatic language deficits (referring to difficulty communicating both verbally and nonverbally in social situations) are also common to both WS and ASD and can be hypothesized to derive from specific deficits that both groups have with inferring the mental states of others [188].…”

Section: Williams Syndromementioning

confidence: 99%

Behavioral and Psychiatric Disorders in Syndromic Autism

Genovese,

Butler

2024

Brain Sciences

View full text Add to dashboard Cite

Syndromic autism refers to autism spectrum disorder diagnosed in the context of a known genetic syndrome. The specific manifestations of any one of these syndromic autisms are related to a clinically defined genetic syndrome that can be traced to certain genes and variants, genetic deletions, or duplications at the chromosome level. The genetic mutations or defects in single genes associated with these genetic disorders result in a significant elevation of risk for developing autism relative to the general population and are related to recurrence with inheritance patterns. Additionally, these syndromes are associated with typical behavioral characteristics or phenotypes as well as an increased risk for specific behavioral or psychiatric disorders and clinical findings. Knowledge of these associations helps guide clinicians in identifying potentially treatable conditions that can help to improve the lives of affected patients and their families.

show abstract

Autism and Williams syndrome: truly mirror conditions in the socio-cognitive domain?

Cited by 8 publications

References 207 publications

Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Astrocytic β-catenin signaling via TCF7L2 regulates synapse development and social behavior

Behavioral and Psychiatric Disorders in Syndromic Autism

Contact Info

Product

Resources

About