Biological determinants of the origin and development of the opposite psychological and behavioral traits associated with autism spectrum disorders and Williams syndrome

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11310%2F24%3A10486460" target="_blank" >RIV/00216208:11310/24:10486460 - isvavai.cz</a>

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=pdm4AtgdIG" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=pdm4AtgdIG</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.rasd.2024.102479" target="_blank" >10.1016/j.rasd.2024.102479</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Biological determinants of the origin and development of the opposite psychological and behavioral traits associated with autism spectrum disorders and Williams syndrome

Popis výsledku v původním jazyce

Williams syndrome is a genetical disorder caused by microdeletion on chromosome 7, specifically of 7q11.23 region. Its phenotype is characterized by typical facial features, mild mental retardation, cardiovascular problems (patients often suffer from supravalvular aortic stenosis), gastrointestinal problems and endocrine abnormalities. However, Williams syndrome is best known for its unique behavioural-cognitive profile which leads to friendly, hypersocial and talkative personality. This specific neuropsychological profile is repeatedly considered to be the right opposite of the psychological profile, which is characteristic for people with autism spectrum disorder. Individuals with autism spectrum disorder often have severe impairments in social interaction, communication and they suffer from social anxieties. This contrasting cognitive-behavioural phenotype inspired many studies to examine possible biological causes, which might determine given personality features. Several results from these studies suggest that small genetical TFII-I family, which lies in the critical Williams syndrome region, could have a significant impact on the extent of personality qualities such as sociality and communication.

Název v anglickém jazyce

Biological determinants of the origin and development of the opposite psychological and behavioral traits associated with autism spectrum disorders and Williams syndrome

Popis výsledku anglicky

Williams syndrome is a genetical disorder caused by microdeletion on chromosome 7, specifically of 7q11.23 region. Its phenotype is characterized by typical facial features, mild mental retardation, cardiovascular problems (patients often suffer from supravalvular aortic stenosis), gastrointestinal problems and endocrine abnormalities. However, Williams syndrome is best known for its unique behavioural-cognitive profile which leads to friendly, hypersocial and talkative personality. This specific neuropsychological profile is repeatedly considered to be the right opposite of the psychological profile, which is characteristic for people with autism spectrum disorder. Individuals with autism spectrum disorder often have severe impairments in social interaction, communication and they suffer from social anxieties. This contrasting cognitive-behavioural phenotype inspired many studies to examine possible biological causes, which might determine given personality features. Several results from these studies suggest that small genetical TFII-I family, which lies in the critical Williams syndrome region, could have a significant impact on the extent of personality qualities such as sociality and communication.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10600 - Biological sciences

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Research in Autism Spectrum Disorders

ISSN

1750-9467

e-ISSN

1878-0237

Svazek periodika

118

Číslo periodika v rámci svazku

October

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

14

Strana od-do

102479

Kód UT WoS článku

001314736100001

EID výsledku v databázi Scopus

2-s2.0-85203514895