Parent insights into atypicalities of social approach behaviour in Williams syndrome

Lough, Emma; Rodgers, Jacqui; Janes, Emily; Little, Katie; Riby, Deborah M.

doi:10.1111/jir.12279

Cited by 10 publications

(8 citation statements)

References 38 publications

(110 reference statements)

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“…Williams-Beuren syndrome (WBS) is probably the most outstanding example of a genetic condition associated with a distinct personality profile. Individuals with WBS are often described as gregarious and people-oriented (Ng, Järvinen, et Bellugi 2014) (Lough et al 2016) (Klein-Tasman et Mervis 2003) (Gosch et Pankau 1997). The social dimension of the personality profile in WBS has sometimes been contrasted with Prader-Willi syndrome (Di Nuovo et Buono 2011), known for its propensity to affect emotional regulation (Avrahamy et al 2015).…”

Section: Introductionmentioning

confidence: 99%

RASopathies are associated with a distinct personality profile

Bizaoui

Gage

Brar

et al. 2018

American J of Med Genetics Pt B

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Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Eighty subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Noonan syndrome were assessed using a parent-report BFQ-C (Big Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls. A short questionnaire was added to assess sense of humor. RASopathy subjects and sibling controls were compared for individual components of personality, multidimensional personality profiles, and individual questions using Student tests, analysis of variance, and principal component analysis. RASopathy subjects were given lower scores on average compared to sibling controls in agreeableness, extraversion, conscientiousness, openness, and sense of humor, and similar scores in neuroticism. When comparing the multidimensional personality profile between groups, RASopathies showed a distinct profile from unaffected siblings, but no difference in this global profile was found within RASopathies, revealing a common profile for the Ras/MAPK-related disorders. In addition, several syndrome-specific strengths or weaknesses were observed in individual domains. We describe for the first time an association between a single pathway and a specific personality profile, providing a better understanding of the genetics underlying personality, and new tools for tailoring educational and behavioral approaches for individuals with RASopathies.

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Section: Introductionmentioning

confidence: 99%

RASopathies are associated with a distinct personality profile

Bizaoui

Gage

Brar

et al. 2018

American J of Med Genetics Pt B

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“…Health issues (e.g., gastroesophageal reflux) are prominent and associated with self-injury and low mood [ 123 ] • Social anxiety [ 44 – 46 ] and intolerance of uncertainty [ 47 ] • Familiarity and social context [ 49 ] • Age-related increase in social withdrawal, self-injury and low mood [ 51 – 53 ] Williams syndrome (WS) Microdeletion of 26–28 genes on chromosome 7q11.23 [ 124 ] Typically, degree of ID severity is in the borderline to moderate range [ 58 ] High motivation for social engagement, presenting as overly friendly and affectionate [ 55 ]. Heightened approach towards strangers [ 61 ]. Relative strengths in expressive language [ 125 ].…”

Section: Broader Phenotypic Characteristicsmentioning

confidence: 99%

“…Visuo-spatial processing difficulties and auditory hypersensitivity [ 56 , 123 ]. Obsessive preoccupations [ 57 ] and increased anxiety are reported [ 58 , 59 ] • Hypersociability [ 61 ] and social vulnerability [ 62 ] • Auditory hypersensitivity [ 56 ] • Repetitive behaviours [ 57 ] • Intolerance of uncertainty [ 60 •] • Age-related increase in anxiety [ 58 , 59 ] Prader-Willi syndrome (PWS) Loss of the paternally expressed genes on the q11–13 region of chromosome 15, due to deletion or inheritance of two maternal copies [ 73 ] Mild to moderate degree of ID is common . Greater cognitive difficulties are associated with the UPD subtype than the deletion [ 73 ] Hyperphagia can cause excessive eating and food stealing, which requires strict food management [ 73 ].…”

Section: Broader Phenotypic Characteristicsmentioning

confidence: 99%

Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support

Jenner

Richards

Howard

et al. 2023

Curr Dev Disord Rep

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Purpose of Review Elevated prevalence of autism characteristics is reported in genetic syndromes associated with intellectual disability. This review summarises recent evidence on the behavioural heterogeneity of autism in the following syndromes: Fragile X, Cornelia de Lange, Williams, Prader-Willi, Angelman, Down, Smith-Magenis, and tuberous sclerosis complex. Key considerations for assessment and support are discussed. Recent Findings The profile and developmental trajectory of autism-related behaviour in these syndromes indicate some degree of syndrome specificity which may interact with broader behavioural phenotypes (e.g. hypersociability), intellectual disability, and mental health (e.g. anxiety). Genetic subtype and co-occurring epilepsy within syndromes contribute to increased significance of autism characteristics. Autism-related strengths and challenges are likely to be overlooked or misunderstood using existing screening/diagnostic tools and criteria, which lack sensitivity and specificity within these populations. Summary Autism characteristics are highly heterogeneous across genetic syndromes and often distinguishable from non-syndromic autism. Autism diagnostic assessment practices in this population should be tailored to specific syndromes. Service provisions must begin to prioritise needs-led support.

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“…According to Van Den Heuvel et al (2016) , individuals with WS are so eager to communicate that they will do anything to interact with other people, to the detriment of their sense of relationships. The parents of children with WS report that their children have this desire to interact with others, while also highlighting inappropriate social behaviors in interactions ( Lough et al, 2016 ). For example, children and adolescents with WS preferentially seek to interact with adults or older people ( Riby et al, 2014 ).…”

Section: Introductionmentioning

confidence: 99%

Emotion Recognition as a Real Strength in Williams Syndrome: Evidence From a Dynamic Non-verbal Task

2018

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The hypersocial profile characterizing individuals with Williams syndrome (WS), and particularly their attraction to human faces and their desire to form relationships with other people, could favor the development of their emotion recognition capacities. This study seeks to better understand the development of emotion recognition capacities in WS. The ability to recognize six emotions was assessed in 15 participants with WS. Their performance was compared to that of 15 participants with Down syndrome (DS) and 15 typically developing (TD) children of the same non-verbal developmental age, as assessed with Raven’s Colored Progressive Matrices (RCPM; Raven et al., 1998). The analysis of the three groups’ results revealed that the participants with WS performed better than the participants with DS and also than the TD children. Individuals with WS performed at a similar level to TD participants in terms of recognizing different types of emotions. The study of development trajectories confirmed that the participants with WS presented the same development profile as the TD participants. These results seem to indicate that the recognition of emotional facial expressions constitutes a real strength in people with WS.

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Parent insights into atypicalities of social approach behaviour in Williams syndrome

Abstract: These in-depth parent insights can help target the needs of individuals with WS and emphasise that an individual approach to intervention will be essential because of the heterogeneity of the WS social profile.

Cited by 10 publications

References 38 publications

RASopathies are associated with a distinct personality profile

RASopathies are associated with a distinct personality profile

Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support

Emotion Recognition as a Real Strength in Williams Syndrome: Evidence From a Dynamic Non-verbal Task

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