Background: Behaviours that challenge (BtC) are reported frequently in SATB2-associated syndrome (SAS), a genetic syndrome characterised by intellectual disability, severe speech delay, and palatal and dental problems. Estimated prevalence rates of 77% and 42% are reported for behaviours directed towards others (e.g., hitting, hair pulling) and the environment (e.g., throwing or tearing items), respectively. In mixed-methods research, caregivers often indicate these BtC are associated with uncertain and unpredictable situations or environments. This study aimed to examine whether these associations are underpinned by differences in executive functioning.

Methods: Caregivers of 37 children and adults with SAS (M_age 13.34 years; range 4-40 years; 51.3% male) completed questionnaire measures of adaptive functioning, frequency and severity of BtC, executive functioning (EF) and intolerance of uncertainty (IU). Correlation and bootstrapped mediation analyses were conducted.

Results: Significant associations were found between more severe and frequent BtC, increased IU, and lower EF (ps ≤.01). Higher levels of adaptive functioning were associated with increased EF ability (p=.003). Mediation analyses controlling for adaptive functioning indicated significant total and non-significant direct effects between IU and BtC frequency (β=0.13, p=.03; β=-0.03, p=.67) and IU and BtC severity (β=0.15, p<.001; β=0.09, p=.10). Significant indirect effects through EF were found between IU and BtC frequency and severity (β=0.15, 95% CI [0.07, 0.10]; β=0.15, 95% CI [0.02, 0.15]).

Conclusion: EF fully mediated associations between IU and the frequency and severity of BtC, suggesting lower EF ability reduces the ability to manage and respond to uncertain and unpredictable environments and situations. These findings indicate EF and IU should be considered when implementing person-centred support and interventions for BtC in this group. Fine-grained understanding of the profile of specific EF components, such as inhibition and cognitive flexibility, will increase understanding of EF as a mechanism underpinning BtC and further inform support and intervention strategies in SAS.

Keywords: SATB2-associated syndrome, SATB2, Behaviours that Challenge, Executive Function, Intolerance of Uncertainty