scholarly journals Williams syndrome: Reduced attention to other’s eyes in a hypersocial phenotype

2020 ◽  
Author(s):  
Johan Lundin Kleberg ◽  
Deborah Riby ◽  
Christine Fawcett ◽  
Hanna Björlin Avdic ◽  
Matilda A. Frick ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Social Interaction ◽  
Williams Syndrome ◽  
Genetic Disorder ◽  
Age Groups ◽  
Social Motivation ◽  
Social Understanding ◽  
Typically Developing ◽  
Gaze Behavior ◽  
Saccadic Velocity

Williams syndrome (WS) is a rare genetic disorder which leads to high social motivation as well as intellectual disability and difficulties with social interaction. Attention to others’ eyes is crucial for social understanding. Individuals with WS are typically highly attentive to faces, but there is a lack of knowledge about how they attend to other’s eyes, and the mechanisms underlying potential alterations in behavior. It has been suggested that physiological hypo-arousal enables individuals with WS to maintain their gaze longer at other’s faces. The aim of this study was to better understand if there is atypical gaze behavior among individuals with WS which might underlie their reduced social understanding and related difficulties with social interaction. We examined the speed and likelihood of gaze shifts to and from other’s eyes in individuals with WS (n = 37; mean age 23 years), and controls (n = 167) in stratified age groups (7 months, 8-12 years, 13-17 years, adults). Peak saccadic velocity was studied as an index of arousal. Individuals with WS were less likely, and slower, to orient to the eyes compared with typically developing controls in all age groups from eight years of age but did not differ from 7-month-old infants. Peak saccadic velocity was reduced in WS, replicating previous results of hypo-arousal. The results were supported by both frequentist and Bayesian statistics. Despite the hyper-social behavioral phenotype, WS is associated with reduced attention to others’ eyes. This could contribute to the difficulties with complex social interaction observed in WS.

Narrative as a Social Engagement Tool: The Excessive Use of Evaluation in Narratives from Children with Williams Syndrome

2000 ◽  
Vol 10 (2) ◽  
pp. 265-290 ◽  
Author(s):  
Molly Losh ◽  
Ursula Bellugi ◽  
Judy Reilly
Keyword(s):  
Williams Syndrome ◽  
Cognitive Abilities ◽  
Social Engagement ◽  
Picture Book ◽  
Genetic Disorder ◽  
Narrative Development ◽  
Typically Developing ◽  
Complex Syntax ◽  
And Gender ◽  
Matched Comparison

Williams syndrome is a rare genetic disorder characterized by a unique physiological and behavioral profile, involving excessive sociability and relatively spared linguistic abilities in spite of mild to moderate mental retardation. The present study examines the narrative development of children with Williams syndrome and, for the first time, compares their performance to typically developing chronological-age matched children to examine the development of both structural linguistic abilities as well as the use of evaluation to elaborate and enrich narrative. Thirty children with Williams syndrome (5- through 10-years-old) and 30 typically developing age- and gender-matched comparison children were asked to tell a story from a wordless picture book. Results indicated that as a group, children with Williams syndrome committed significantly more morphological errors and used less complex syntax than comparison children, not surprising considering their language delay and impaired cognitive abilities. Significantly, children with Williams syndrome greatly exceeded comparison children in their elaboration and use of evaluative devices and showed particular preference for types of evaluation which serve as social engagement devices, reflecting their profile of excessive sociability. (Williams syndrome, Narrative, Evaluation)

Music Affinity and Emotion in Williams Syndrome

2020 ◽  
Vol 12 (2) ◽  
pp. 122
Author(s):  
Philip To Lai
Keyword(s):  
Williams Syndrome ◽  
Cognitive Abilities ◽  
Genetic Disorder ◽  
Cognitive Profile ◽  
Typically Developing ◽  
Spatial Skills ◽  
Moderate Intellectual Disability ◽  
Reasoning Abilities ◽  
Neuropsychological Profile ◽  
Conceptual Reasoning

Williams syndrome (WS) is a neurodevelopmental genetic disorder. Of interest to cognitive scientists is the uneven cognitive profile that is characteristic of the syndrome. In spite of mild to moderate intellectual disability, a complex pattern of strengths and weaknesses is found in their cognitive abilities. Strengths are seen in linguistic abilities and facial processing whereas weaknesses include visuo-spatial skills and conceptual reasoning abilities. Numerous anecdotes exist regarding musical abilities in individuals with WS. To elaborate on the neuropsychological profile of WS and particularly to better understand the affinity to music in individuals with WS, the present study examined the perception and production of music in this population. Results revealed that overall, individuals with WS were more expressive than typically developing individuals when they were involved with music. This study serves to further characterize this unique social and cognitive profile of individuals with WS, adding an affinity to music as a characteristic of their phenotype.

Diurnal Cortisol Profile in Williams Syndrome in Novel and Familiar Settings

2013 ◽  
Vol 118 (3) ◽  
pp. 201-210 ◽  
Author(s):  
Miriam Diane Lense ◽  
Andrew J. Tomarken ◽  
Elisabeth M. Dykens
Keyword(s):  
Stress Response ◽  
Williams Syndrome ◽  
Social Issues ◽  
Genetic Disorder ◽  
Somatic Complaints ◽  
Cortisol Awakening Response ◽  
The Novel ◽  
Typically Developing ◽  
Diurnal Cortisol ◽  
Social Difficulties

Abstract Williams syndrome (WS) is a neurodevelopmental genetic disorder associated with high rates of anxiety and social issues. We examined diurnal cortisol, a biomarker of the stress response, in adults with WS in novel and familiar settings, and compared these profiles to typically developing (TD) adults. WS and TD participants had similar profiles in a familiar setting, while participants with WS had elevated cortisol late in the day in the novel setting when social demands were higher. The cortisol awakening response in WS was associated with parent-reported levels of somatic complaints and social difficulties. Results suggest that adults with WS have a typical diurnal cortisol profile that may be sensitive to social and activity transitions throughout the day.

Inflection in Williams Syndrome

2009 ◽  
Vol 4 (2) ◽  
pp. 215-238 ◽  
Author(s):  
Stavroula Stavrakaki ◽  
Harald Clahsen
Keyword(s):  
Williams Syndrome ◽  
Age Groups ◽  
Experimental Results ◽  
Developmental Changes ◽  
Past Tense ◽  
Typically Developing ◽  
Irregular Word ◽  
Typically Developing Children ◽  
Word Forms

This study presents experimental results from elicited production and judgment tasks examining perfective past-tense forms of Greek in seven individuals with Williams Syndrome (WS) in comparison to three age groups of typically-developing children. We found that the WS group relied more on the regular (‘sigmatic’) past tense and less on the irregular (‘non-sigmatic’) one than typically-developing children. While for the sigmatic past tense, individuals with WS achieved the same or even higher scores as the controls, they had lower scores on several measures involving non-sigmatic forms and produced more overgeneralizations of sigmatic forms than the controls. We also found developmental changes in the performance of the WS group that were largely parallel to those seen for unimpaired children. Our conclusion is that apart from difficulties accessing irregular word forms in production, the inflectional system of people with WS is unimpaired.

scholarly journals Gene functional networks and autism spectrum characteristics in young people with intellectual disability

2020 ◽  
Author(s):  
Diandra Brkić ◽  
Elise Ng-Cordell ◽  
Sinéad O’Brien ◽  
Gaia Scerif ◽  
Duncan Astle ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Young People ◽  
Social Motivation ◽  
Autism Spectrum ◽  
Functional Network ◽  
Functional Networks ◽  
Social Understanding ◽  
Chromatin Regulation ◽  
Principle Components Analysis ◽  
Spectrum Characteristics

AbstractBackgroundGenes associated with Intellectual disability (ID) can be grouped into networks according to gene function. This study asked whether individuals with ID show differences in autism spectrum characteristics (ASC), depending on the functional network membership of their rare, pathogenic de novo genetic variants.MethodsChildren and young people with ID of known genetic origin were allocated to two broad functional network groups: synaptic physiology (n=29) or chromatin regulation (n=23). We applied principle components analysis to the Social Responsiveness Scale to map the structure of ASC in this population, and identified three components – Inflexibility, Social Understanding and Social Motivation. We then used Akaike Information Criterion (AIC) to test the best fitting models for predicting ASC components, including demographic factors (age, gender), non-ASC behavioural factors (global adaptive function, anxiety, hyperactivity, inattention) and gene functional networks.ResultsWe found that, when other factors are accounted for, the chromatin regulation group showed higher levels of Inflexibility. We also observed contrasting predictors of ASC within each network group. Within the chromatin regulation group, Social Understanding was associated with inattention, and Social Motivation was predicted by hyperactivity. Within the synaptic group, Social Understanding was associated with hyperactivity, and Social Motivation was linked to anxiety.ConclusionWe report that gene functional networks can predict Inflexibility, but not other ASC dimensions. Contrasting behavioural associations within each group suggests network-specific developmental pathways from genomic variation to autism. Simple classification of neurodevelopmental disorder genes as high risk or low risk for autism is unlikely to be valid or useful.

scholarly journals Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Diandra Brkić ◽  
Elise Ng-Cordell ◽  
Sinéad O’Brien ◽  
Gaia Scerif ◽  
Duncan Astle ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Young People ◽  
Social Motivation ◽  
Autism Spectrum ◽  
Functional Network ◽  
Functional Networks ◽  
Social Understanding ◽  
Chromatin Regulation ◽  
Principle Components Analysis ◽  
Spectrum Characteristics

Abstract Background The relationships between specific genetic aetiology and phenotype in neurodevelopmental disorders are complex and hotly contested. Genes associated with intellectual disability (ID) can be grouped into networks according to gene function. This study explored whether individuals with ID show differences in autism spectrum characteristics (ASC), depending on the functional network membership of their rare, pathogenic de novo genetic variants. Methods Children and young people with ID of known genetic origin were allocated to two broad functional network groups: synaptic physiology (n = 29) or chromatin regulation (n = 23). We applied principle components analysis to the Social Responsiveness Scale to map the structure of ASC in this population and identified three components—Inflexibility, Social Understanding and Social Motivation. We then used Akaike information criterion to test the best fitting models for predicting ASC components, including demographic factors (age, gender), non-ASC behavioural factors (global adaptive function, anxiety, hyperactivity, inattention), and gene functional networks. Results We found that, when other factors are accounted for, the chromatin regulation group showed higher levels of Inflexibility. We also observed contrasting predictors of ASC within each network group. Within the chromatin regulation group, Social Understanding was associated with inattention, and Social Motivation was predicted by hyperactivity. Within the synaptic group, Social Understanding was associated with hyperactivity, and Social Motivation was linked to anxiety. Limitations Functional network definitions were manually curated based on multiple sources of evidence, but a data-driven approach to classification may be more robust. Sample sizes for rare genetic diagnoses remain small, mitigated by our network-based approach to group comparisons. This is a cross-sectional study across a wide age range, and longitudinal data within focused age groups will be informative of developmental trajectories across network groups. Conclusion We report that gene functional networks can predict Inflexibility, but not other ASC dimensions. Contrasting behavioural associations within each group suggest network-specific developmental pathways from genomic variation to autism. Simple classification of neurodevelopmental disorder genes as high risk or low risk for autism is unlikely to be valid or useful.

scholarly journals Social seeking declines in young adolescents

2017 ◽  
Vol 4 (8) ◽  
pp. 170029 ◽  
Author(s):  
Indu Dubey ◽  
Danielle Ropar ◽  
Antonia F de C. Hamilton
Keyword(s):  
Developmental Change ◽  
Age Groups ◽  
Social Motivation ◽  
Developmental Trajectory ◽  
Typically Developing ◽  
Young Adolescents ◽  
The Difference ◽  
Trial Participants ◽  
Screen Touch ◽  
Different Levels

The desire to engage with others is an important motivational force throughout our lifespan. It is known that social behaviour and preferences change from childhood to adulthood, but whether this change is linked with any changes in social motivation is not known. We evaluated 255 typically developing participants from ages 4–20 years on a behavioural paradigm ‘Choose a Movie’ (CAM). On every trial, participants had a choice between viewing social or non-social movies presented with different levels of effort (key presses/screen touch required). Hence, participants chose not only the movie they would watch but also how much effort they would make. The difference between the effort levels of the chosen and not chosen stimuli helps in quantifying the motivation to seek it. This task could be used with all the age groups with minimal adaptations, allowing comparison between the groups. Results showed that children (4–8 years), older adolescents (12–16 years) and young adults (17–20 years) made more effort to look at social movies. Counterintuitively, this preference was not seen in young adolescents (around 9–12 years), giving a U-shaped developmental trajectory over the population. We present the first evidence for non-monotonic developmental change in social motivation in typical participants.

scholarly journals Williams–Beuren-szindróma (Williams-szindróma)

2017 ◽  
Vol 158 (47) ◽  
pp. 1883-1888 ◽  
Author(s):  
Györgyi Miklós ◽  
György Fekete ◽  
Irén Haltrich ◽  
Miklós Tóth ◽  
Péter Reismann
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Intellectual Disability ◽  
Genetic Analysis ◽  
Ethnic Groups ◽  
Williams Syndrome ◽  
Social Behaviour ◽  
Genetic Disorder ◽  
Facial Features ◽  
Rare Genetic Disorder

Abstract: Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients’ lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883–1888.

Probed Serial Recall in Williams Syndrome

2005 ◽  
Vol 48 (2) ◽  
pp. 360-371 ◽  
Author(s):  
Jon Brock ◽  
Teresa McCormack ◽  
Jill Boucher
Keyword(s):  
Serial Recall ◽  
Williams Syndrome ◽  
Short Term Memory ◽  
Genetic Disorder ◽  
Serial Order ◽  
Typically Developing ◽  
Control Groups ◽  
Typically Developing Children ◽  
Short Term ◽  
Lexical Knowledge

Williams syndrome is a genetic disorder that, it has been claimed, results in an unusual pattern of linguistic strengths and weaknesses. The current study investigated the hypothesis that there is a reduced influence of lexical knowledge on phonological short-term memory in Williams syndrome. Fourteen children with Williams syndrome and 2 vocabulary-matched control groups, 20 typically developing children and 13 children with learning difficulties, were tested on 2 probed serial-recall tasks. On the basis of previous findings, it was predicted that children with Williams syndrome would demonstrate (a) a reduced effect of lexicality on the recall of list items, (b) relatively poorer recall of list items compared with recall of serial order, and (c) a reduced tendency to produce lexicalization errors in the recall of nonwords. In fact, none of these predictions were supported. Alternative explanations for previous findings and implications for accounts of language development in Williams syndrome are discussed.

Normocentric biases taint cognitive neuroscience and intervention of autism

2019 ◽  
Vol 42 ◽  
Author(s):  
Laurent Mottron
Keyword(s):  
Intellectual Disability ◽  
Cognitive Neuroscience ◽  
Social Motivation ◽  
Repetitive Behaviors ◽  
Restricted Interests ◽  
Autistic People

Abstract Stepping away from a normocentric understanding of autism goes beyond questioning the supposed lack of social motivation of autistic people. It evokes subversion of the prevalence of intellectual disability even in non-verbal autism. It also challenges the perceived purposelessness of some restricted interests and repetitive behaviors, and instead interprets them as legitimate exploratory and learning-associated manifestations.

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