Executive function, repetitive behaviour and restricted interests in neurodevelopmental disorders

Perry, Victoria; Ellis, Katherine; Moss, J; Beck, Sarah R.; Singla, Gursharan; Crawford, Hayley; Waite, Jane; Richards, Caroline; Oliver, Chris

doi:10.1016/j.ridd.2021.104166

Cited by 3 publications

(1 citation statement)

References 74 publications

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“…Repetitive behaviours in individuals with RTS include body, hand and object stereotypy, adherence to routines, repetitive phrases and repetitive questioning. 66 142 144 Repetitive behaviour, in particular, repetitive questioning, has been associated with inhibitory control and working memory difficulties, 145 146 which has led to the hypothesis that individuals may have difficulties suppressing questioning behaviour, and retaining information in their working memory. 145 146 Co-occurrence of adherence to routines and temper outbursts in older individuals has led to the suggestion that executive function difficulties may contribute to these characteristics.…”

Section: Behaviourmentioning

confidence: 99%

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Lacombe,

Bloch-Zupan,

Bredrup

et al. 2024

J Med Genet

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Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP,EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1:CREBBP; RTS2:EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.

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Section: Behaviourmentioning

confidence: 99%

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Lacombe,

Bloch-Zupan,

Bredrup

et al. 2024

J Med Genet

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Behaviours that Challenge in SATB2-associated Syndrome: Correlates of Self-injury, Aggression and Property Destruction

Shelley,

Waite,

Tarver

et al. 2023

J Autism Dev Disord

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SATB2-associated syndrome (SAS) is a genetic syndrome characterised by intellectual disability, severe speech delay, and palatal and dental problems. Behaviours that challenge (BtC) are reported frequently; however, there is limited research on specific forms of BtC and the correlates of these behaviours. The current study explores correlates of well-defined BtC, self-injury, aggression, and property destruction, in SAS. Eighty-one parents/caregivers of individuals with SAS (53.1% male, Mage 10.12 years) completed questionnaire measures of health, behavioural, emotional, and autism characteristics. Individuals with SAS were grouped based on caregiver responses to the presence or absence of self-injury, aggression, and property destruction on the Challenging Behaviour Questionnaire. Rates of self-injury, aggression and property destruction were 42%, 77% and 49%, respectively. Between-group comparisons were conducted to compare characteristics between behaviour groups. Significantly differing characteristics were entered into separate hierarchical logistic regressions for each form of BtC. Behavioural comparisons indicated variation in the characteristics associated with each behaviour. All hierarchical logistic regression models were significant (p < .001): self-injury (χ2(5) = 38.46, R2 = 0.571), aggression (χ2(4) = 25.12, R2 = 0.414), property destruction (χ2(4) = 23.70, R2 = 0.346), explaining between 34.6% and 57.1% of the variance in behaviour presence. This is the first study to identify correlates of self-injury, aggression, and property destruction in SAS. Variability in the characteristics associated with each behaviour highlights the importance of specificity when examining BtC. Understanding correlates of specific forms of BtC has important implications for informing SAS-associated pathways to behavioural outcomes and the implementation of tailored behavioural interventions.

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Variables Related to the Presence of Challenging Behaviors in Adults with Intellectual Disability with and Without Autism Spectrum Disorder: A Comparative, Predictive and Transdiagnostic Study

Álvarez-Couto,

García-Villamisar,

Del Pozo

2024

Journal of Mental Health Research in Intellectual Disabilities

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Executive function, repetitive behaviour and restricted interests in neurodevelopmental disorders

Cited by 3 publications

References 74 publications

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Behaviours that Challenge in SATB2-associated Syndrome: Correlates of Self-injury, Aggression and Property Destruction

Variables Related to the Presence of Challenging Behaviors in Adults with Intellectual Disability with and Without Autism Spectrum Disorder: A Comparative, Predictive and Transdiagnostic Study

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