Williams syndrome:recent advances in our understanding of cognitive, social and psychological functioning

PURPOSE OF REVIEW: Since the last review of Williams syndrome in Current Opinion (2001) there have been many advances in knowledge about the cognitive, social and psychological impairments that characterize the disorder. The present review focuses on current research in these areas. RECENT FINDINGS: Williams syndrome is associated with a wide range of cognitive, linguistic, social and other difficulties. When young, these deficits may appear relatively mild - for example, many children are highly sociable and talkative - but with age the impact of these difficulties becomes more evident. Thus, inappropriate social behaviours can significantly increase the risk of social exclusion and vulnerability to abuse. Their superficially good speech can lead to educational and other services failing to understand the true extent of impairments or the need for specialist support. Mental health problems, especially related to anxiety, often become an increasing challenge from adolescence onwards. SUMMARY: The core difficulties associated with Williams syndrome have a cascading effect on many areas of development over time. However, specialist provision is rare and intervention trials are almost nonexistent. Longitudinal research is needed to identify factors associated with cognitive, social and emotional problems and to develop more effective ways of minimizing and treating difficulties

Dissociation of Cross-Sectional Trajectories for Verbal and Visuo Spatial Working Memory Development in Rubinstein Taybi syndrome.

Background. Impairments in working memory (WM) might amplify behavioural difference in genetic syndromes associated with intellectual disability (ID) and account for variability in behavioural phenotypes. Murine models of the genetic disorder Rubinstein-Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in this syndrome. We examine the cross-sectional trajectory of domains of WM development in RTS. Methods. Individuals with RTS (N = 32) and typically developing (TD) children (N = 89) completed a battery of WM tasks. Participants with RTS also completed an IQ assessment and parent/carers completed the Vineland Adaptive Behavior Scales (VABS). A crosssectional trajectory analysis was conducted. Results. The RTS group showed significant WM deficits relative to mental age on measures of WM span in both verbal and visuo-spatial domains. However, whilst better performance on verbal WM span tasks was positively correlated with higher mental age in RTS, this association was not observed on the visuo-spatial span task despite being evident in the TD comparison group. Conclusions. Individuals with RTS are likely to have difficulties with tasks that rely on WM, above and beyond difficulties predicted by overall ability. In addition, there is a dissociation between the cross-sectional trajectories for verbal and visuo-spatial skills in RTS. Interventions and education strategies for individuals with RTS may need to be tailored to reduce or accommodate these difficulties

Anxiety and intellectual functioning in autistic children:A systematic review and meta-analysis

Autistic children experience higher levels of anxiety than their peers. Making appropriate diagnoses of anxiety disorders and providing effective treatment for these children is particularly difficult. Inconsistent evidence suggests that levels of anxiety in autistic children are related to intellectual functioning. We provide the first meta-analysis of this evidence. A systematic search identified 49 papers for review. These papers included measures of anxiety and intelligence quotient in 18,430 autistic children. Studies employing correlations showed evidence of a significant relationship between intelligence quotient and anxiety in autistic children: children with higher intelligence quotient scored higher on measures of anxiety. Studies directly comparing groups of autistic children with and without intellectual disability also supported this conclusion. Most studies employing other designs also supported this finding. Employing a quality assessment framework identified common threats to validity. Many studies used measures of anxiety that were not validated across the samples they measure. This was most notable for those autistic children with an intellectual disability. It is vital that future research determines whether the identified relationship between intelligence quotient and anxiety reflects something important in the mechanism for anxiety in autistic children, or quantifies the lack of sensitivity of our measures of anxiety across different groups

Behavioural and physiological indicators of anxiety reflect shared and distinct profiles across individuals with neurogenetic syndromes

Anxiety is heightened in individuals with intellectual disability, particularly in those with specific neurogenetic syndromes. Assessment of anxiety for these individuals is hampered by a lack of appropriate measures that cater for communication impairment, differences in presentation, and overlapping features with co-occurring conditions. Here, we adopt a multi-method approach to identify fine-grained behavioural and physiological (via salivary cortisol) responses to anxiety presses in people with fragile X (FXS; n=27; Mage=20.11y; range 6.32-47.04y) and Cornelia de Lange syndromes (CdLS; n=27; Mage=18.42y; range 4.28–41.08y), two neurogenetic groups at high risk for anxiety, compared to neurotypical children (NT; n=21; Mage=5.97y, range 4.34–7.30y). Results indicate that physical avoidance of feared stimuli and proximity seeking to a familiar adult are prominent behavioural indicators of anxiety/stress in FXS and CdLS. Heightened pervasive physiological arousal was identified in these groups via salivary cortisol. An association between autistic characteristics and anxiety was evident in the FXS group but not in the CdLS group pointing to syndrome-specific nuances in the association between anxiety and autism. This study furthers understanding of the behavioural and physiological presentation of anxiety in individuals with intellectual disability and progresses theoretical developments regarding the development and maintenance of anxiety at the intersection of autism

Associations between behaviours that challenge in adults with intellectual disability, parent perceptions and parental mental health

Objectives. This study examined parental perceptions of behaviours that challenge (CB) in their adult children with intellectual disability (ID), and explored whether perceptions mediated associations between CB and parental psychological distress. Design. A within-group correlational design was employed. Methods. Sixty-five parents reported on individuals with genetic syndromes and ID who had chronic behaviours that challenge (CB). Parents completed the Illness Perception Questionnaire-Revised (IPQ-R) adapted to measure perceptions of self-injury, aggression or property destruction, alongside assessments of parental locus of control, attributions about behaviour, parental psychological distress, and CB. Results. A high proportion of parents evidenced anxiety and depression at clinically significant levels (56.9% and 30.8%, respectively). Contrary to predictions, psychological distress was not significantly associated with CB. The perception that the adult with ID exerted control over the parent’s life mediated the association between CB and parental psychological distress. Few parents endorsed operant reinforcement as a cause of CB (< 10%). Conclusions. The high levels of psychological distress in parents is notable and of concern. Further research should consider the reasons why parents have causal attributions that might be inconsistent with contemporary interventions. Key words: Adults; parents; attributions; self-regulatory model; challenging behaviour; intellectual disability

Anxiety in autistic individuals who speak few or no words:A qualitative study of parental experience and anxiety management

Anxiety is a common co-occurring condition in autism and impacts quality of life of autistic individuals and their families; autistic individuals who speak few or no words represent an under-researched group. This qualitative study aimed to understand more about parental recognition and management of anxiety in autistic individuals who speak few or no words. Semi-structured interviews were conducted with parents/carers of 17 autistic individuals (m age = 14.29) recruited from an existing participant database and social media adverts. Using thematic analysis, 15 themes were placed under three a-priori grand themes: parental recognition of anxiety; parental management of anxiety; and anxiety impact on the autistic individual and their family. Due to reduced verbal language use and overlap with other behaviours, parents described difficulties recognising anxiety in their child. However, they also described use of a number of management strategies, including some which overlap with components of evidence-based interventions for emotional and behavioural problems in autistic individuals (e.g. exposure/sensory calming). Despite this, parents reported that anxiety continues to have significant impact on quality of life. The findings of this study can help to inform the development of targeted intervention and assessment measures for anxiety in autistic individuals who speak few or no words. Lay abstract: Anxiety is a common condition in autistic individuals, including those who also have an intellectual disability. Despite this, autistic individuals who have severe to profound intellectual disability, or use few or no words, are often excluded from autism research. There are also very few assessment tools and interventions with known effectiveness for autistic individuals with intellectual disability. In this study, we aimed to learn more about parent/carers experiences of recognising and managing anxiety in autistic individuals who use few or no words. We conducted semi-structured interviews with parents and carers to address three research questions: (1) what techniques and management strategies do parents describe for anxiety-related behaviour in their child; (2) how do communication difficulties impact parental understanding and management of anxiety provoking situations and behaviours; (3) what is the impact of anxiety-related behaviours on the quality of life of autistic individuals and their families? During the interviews, parents described difficulties recognising anxiety in their child, mostly due to reduced verbal language use and anxiety behaviours overlapping with other behaviours (e.g. autism characteristics). However, parents also described use of a number of management strategies, including some which overlap with components of evidence-based interventions for emotional and behavioural problems in autistic individuals (e.g. exposure/sensory calming). Despite this, parents reported that anxiety continues to have significant impact on quality of life. We will use the findings of this study to inform future research to develop assessment tools and interventions for anxiety in autistic individuals who use few or no words

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

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 &lt;  .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

Anxiety characteristics in individuals with Williams syndrome

BACKGROUND: Williams syndrome anxiety research predominantly focuses on disorder prevalence and symptomatology, categorised using standardised mental health classifications. However, the use of these assessments may not fully capture the phenotypic features of anxiety in Williams syndrome. In this study, we examined characteristics of anxiety using a formulation framework. METHOD: A semi-structured interview was conducted with thirteen parents of individuals with Williams syndrome (median age: 19, age range: 12-45, 8 females). RESULTS: Various anxiety triggers were reported, including anxiety triggered by phobias, uncertainty and negative emotions in others. The range of described behaviours was diverse with both avoidant and active coping strategies for anxiety management reported. CONCLUSIONS: Many of the characteristics described were consistent with findings in the intellectual disability and typically developing literature, although novel information was identified. The study demonstrates the utility of a formulation framework to explore anxiety characteristics in atypical populations and has outlined new avenues for research

Scaling of Early Social Cognitive Skills in Typically Developing Infants and Children with Autism Spectrum Disorder

We delineate the sequence that typically developing infants pass tasks that assess different early social cognitive skills considered precursors to theory-of-mind abilities. We compared this normative sequence to performance on these tasks in a group of autistic (AUT) children. 86 infants were administered seven tasks assessing intention reading and shared intentionality (Study 1). Infants responses followed a consistent developmental sequence, forming a four-stage scale. These tasks were administered to 21 AUT children (Study 2), who passed tasks in the same sequence. However, performance on tasks that required following others’ eye gaze and cooperating with others was delayed. Findings indicate that earlier-developing skills provide a foundation for later-developing skills, and difficulties in acquiring some early social cognitive skills in AUT children

The importance of understanding the behavioural phenotypes of genetic syndromes associated with intellectual disability

Behavioural phenotype research is of benefit to a large number of children with genetic syndromes and associated developmental delay. This article presents an overview of this research area and demonstrates how understanding pathways between gene disorders and behaviour can inform our understanding of the difficulties individuals with genetic syndromes and developmental delay experience, including self-injurious behaviour, social exploitation, social anxiety, social skills deficits, sensory differences, temper outbursts and repetitive behaviours. In addition, physical health difficulties and their interaction with behaviour are considered. The article demonstrates the complexity involved in assessing a child with a rare genetic syndrome