Jane Waite

• BSc, PhD, ClinPsyD
• Reader in Psychology at Aston University

Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein-Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals rea...

Working memory (WM) impairments might amplify behavioural difference in genetic syndromes. Murine models of Rubinstein-Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in RTS. Individuals with RTS and typically developing children completed WM tasks, with participants with RTS completing an IQ assessment and...

Individuals with specific genetic syndromes associated with intellectual disability (ID), such as Williams syndrome (WS), are at increased risk for developing anxiety disorders. A systematic literature review identified sixteen WS papers that could generate pooled prevalence estimates of anxiety disorders for WS. A meta-analysis compared these esti...

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 syndr...

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...

Background Wiedemann–Steiner syndrome (WSS) is a rare, variable neurodevelopmental condition associated with developmental delay, intellectual disability and congenital abnormalities. There are few investigations into behavioral characteristics. Importantly, parental perspectives are particularly lacking. This study investigated commonalities in th...

Survivors of pediatric brain tumours are at a high risk of cognitive morbidity. Reliable individual-level predictions regarding the likelihood, degree, and affected domains of cognitive impairment would be clinically beneficial. While established risk factors exist, quantitative MRI analysis may enhance predictive value, above and beyond current cl...

Background Wiedemann-Steiner Syndrome (WSS) is a rare, variable neurodevelopmental condition associated with developmental delay, intellectual disability and congenital abnormalities. There are few investigations into behavioral characteristics. Importantly, parental perspectives are particularly lacking. This study investigated commonalities in th...

Background There is a critical need for the development of dependable and valid anxiety assessment tools suitable for people with moderate to severe intellectual disabilities, particularly those who speak few or no words. Distinguishing anxiety from distress caused by physical discomfort (pain) or characteristics associated with autism, prevalent i...

Autistic individuals with intellectual disability are at greater risk of experiencing anxiety than their non-autistic peers without intellectual disability. Anxiety in this group may present as behaviour that challenges, often leading families to reach out to healthcare or support services. However, many families experience difficulties accessing s...

Behaviours that challenge (BtC) are common in people with intellectual disability (ID) and associated with negative long-term outcomes. Reliable characterisation of BtC and behavioural function is integral to person-centred interventions. This systematic review and meta-analytic study quantitatively synthesised the evidence-base for the internal co...

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 b...

Survivors of pediatric brain tumour patients are at high risk of cognitive morbidity. There is clinical benefit in being able to reliably predict, at the individual patient level, whether a patient will experience these difficulties or not, the degree of impairment, and the domains affected. Whilst established risk factors exist, quantitative analy...

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 we...

Background: Behaviours that challenge 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 envir...

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...

Background Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. Previous research has tended to include small samples and diverse measures, which limits the generalisabili...

In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed repetitive behavior and executive function questionnaires. Repetitive quest...

Background Anxiety symptomatology is common in individuals with intellectual disability (ID). Symptomatology includes both traditional Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) anxiety disorders and autism spectrum disorder (ASD)-related anxiety traits. Some genetic disorders such as Cornelia de Lange (CdLS) and fra...

Background: SATB2-associated syndrome (SAS) is characterised by intellectual disability, severe speech delay, and palatal and dental problems. An estimated prevalence of 77% is reported for aggressive behaviour. However, no research has investigated the profile and functions for aggressive behaviour in SAS. Methods: Stage 1: Thirty-seven caregivers...

Background: CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors. Methods: This meta-analysis investigated the prevalence of c...

Previously, we have proposed that there are nine domains that warrant assessment when intervening to decrease challenging behavior and\or increase well-being in people with profound or severe intellectual disability and complex needs. These domains are: pain and discomfort, sensory sensitivity, anxiety and low mood, sleep, emotional dysregulation,...

Rubinstein–Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. Most research on RTS has focused on the genotype and physical phenotype; however, several studies have described behavioral, cognitive, social, and emotional chara...

Individuals with syndromic intellectual disability are at increased risk of experiencing anxiety. Comparing prevalence estimates of anxiety will allow the identification of at-risk groups and inform causal pathways of anxiety. No known study has explored estimates of anxiety symptomatology and diagnosis, including specific anxiety profiles, across...

Background SATB2-associated syndrome (SAS) is a multisystem neurodevelopmental disorder characterised by intellectual disability, speech delay, and craniofacial anomalies. Although the clinical presentation of SAS is well-delineated, behaviours associated with SAS are less well-defined. Given the varied social profile reported in SAS of a ‘jovial’...

Autistic individuals with intellectual disability who speak few or no words are at high risk of anxiety but are underrepresented in research. This study aimed to describe the presentation of anxiety in this population and discuss implications for the development of assessments. Interviews were conducted with 21 parents/carers of autistic individual...

Background Individuals with genetic syndromes show unique profiles of repetitive behaviours and restricted interests (RRBs). The executive dysfunction account of RRBs suggests that in autistic (AUT) individuals executive function impairments underpin RRBs, but not communication and social interaction autistic characteristics. Aims To 1) describe p...

Background There is a need for evidence-based approaches to reduce anxiety experienced by autistic children with severe to profound intellectual disability (ID). Avoidance of anxiety triggers, as a response to pronounced anxiety, occurs irrespective of age, background and neurodiversity. When avoidance is unhelpful, evidence-based anxiety reduction...

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 usin...

Abstract Background. The assessment of depression in people with severe to profound intellectual disability (severe-profound ID) is challenging, primarily due to inability to report internal states such as mood, feelings of worthlessness and suicidal ideation. This group also commonly presents with challenging behaviours (e.g. aggression, self-inju...

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-analys...

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 an...

Children and adults with severe intellectual disability and complex needs often show behaviours and distress that carers and professionals find difficult to identify causes for, manage and decrease. The prevailing view is that these behaviours and distress are learned and consequently interventions focus on behavioural techniques. In this article w...

Psychopathology is prevalent in Williams (WS), fragile X (FXS) and Prader–Willi (PWS) syndromes. However, little is known about the potential correlates of psychopathology in these groups. A questionnaire study was completed by 111 caregivers of individuals with WS (n = 35); FXS (n = 50) and PWS (n = 26). Mean age was 26 years (range 12–57 years);...

Background There is limited research into the nature and aetiology of temper outbursts in people with intellectual disabilities. In this study, we describe the phenomenology and environmental context of temper outbursts in Lowe syndrome, a rare genetic syndrome in which outbursts are purportedly frequent. Method A temper outburst interview (TOI) w...

Background: Rubinstein–Taybi syndrome (RTS) is caused by an alteration to the CREBBP gene or EP300 gene. Cross-sectionalresearch has indicated repetitive behaviour (RB) coupled with preserved social communication abilities in RTS; however, few studies have examined these characteristics longitudinally. In addition, there is limited research examini...

Background: DSM-5 anxiety symptomology and autism-specific anxiety traits (e.g. Intolerance to Uncertainty [IU]) are prevalent in individuals with Cornelia de Lange syndrome (CdLS). Previous research has implicated executive functioning (EF) impairments in the emergence and maintenance of anxiety, specifically attention shifting and inhibition defi...

Introduction: Individuals with Autism Spectrum Disorder (ASD) are at increased risk of anxiety (estimated prevalence of 40%). This study examined parent reported behavioural markers of anxiety in autistic individuals and individuals with genetic syndromes associated with ASD who speak few or no words. Methods: A semi‐structured interview was compl...

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 ra...

Background: Anxiety and mood disorders have been reported in over 65% of adolescents and adults with Rubinstein-Taybi syndrome (RTS). Emotional dysregulation has been implicated in the development of mental health difficulties in the general population, including anxiety and low mood. This study combines cross-sectional and longitudinal analyses to...

Background: Due to the rarity of some genetic syndromes, information about these syndromes may be difficult for parents of children who are affected to access. Moreover, with specific behavioural phenotypes and these syndromes often being aggregated in large cohort studies, individual differences in informational needs and support across syndromes...

Objective Mental health problems are more prevalent in people with than without intellectual disabilities, yet treatment options have received little attention. The aim of this study was to identify and evaluate the effectiveness of pharmacological and psychological interventions in the treatment of mental health problems in children and adults wit...

Overview of the cognitive, behavioural and emotional characteristics of Rubinstein-Taybi syndrome.

Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein–Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-devel...

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 o...

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader–Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader–Willi (n = 103) and Down (n = 78) syndromes. There were...

Background: There is limited research documenting the health and/or psychological services accessed by adults with rare genetic syndromes who engage in challenging behaviour. The study documented service receipt and associations with person characteristics. Method: Thirty-two parents of adults with rare genetic syndromes completed an adapted versio...

Background: Temper outbursts are recognised as a common form of challenging behaviour, with deleterious effects on people with intellectual disabilities and their carers. However, very few studies have examined this phenomenon in detail. Previous studies indicate high levels of challenging behaviour in Lowe syndrome, with temper outbursts identifie...

Mental health problems affect people with intellectual disabilities (ID) at rates similar to or in excess of the non-ID population. People with severe ID are likely to have persistent mental health problems. In this systematic review (PROSPERO 2015:CRD42015024469), we identify and evaluate the methodological quality of available measures of mental...

Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n=66), Fragile X (n=142), Down (n=117) and Rubinstein Taybi (n=88)...

Aims: To examine the function of temper outbursts in Lowe syndrome (LS) and associations between these outbursts and difficulties with set-shifting and/or delay of gratification. Method: Twenty individuals with LS aged 6 to 34 years completed two computerised delay of gratification tasks and a scaled set-shifting task. Parents completed adapted que...

Aim: The assessment of anxiety in Williams syndrome (WS) typically relies on the use of established psychiatric tools. These measures, designed for the general population, may miss important markers of anxiety associated with the WS behavioural phenotype. This study examines the profile of anxiety in WS. Method: A meta-analysis was conducted in acc...

This three part guide has been developed to give up to date information on how to spot the signs of anxiety and anxiety disorders and what can be done. Part one describes the common signs of anxiety and specific anxiety disorders. Part two describes the ways professionals assess anxiety in children with intellectual disability, and part three gives...

Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disabilities (SQID) was completed by caregivers of individuals with Cornelia de Lange (CdLS; n=98), Angelman (AS; n=66), Fragile X (FXS; n=142), Down (DS; n=117) and Rubin...

Background: Currently there is a scarcity of lifespan research relating to rare genetic syndromes. Whilst differential behavioural profiles have been identified for autism spectrum disorder (ASD) characteristics within some of these groups, these profiles have yet to be examined in a comparative longitudinal study. This study aims to describe the c...

Aim: Challenging behaviour in intellectual disability is associated with parental anxiety and depression. The Self-Regulatory Model of Illness Behaviour is often applied to patients’ perceptions of health difficulties; however, this model may be applicable to parental perceptions about challenging behaviour. In this study, the model was applied to...

Aim: Parental perceptions of challenging behaviour may have an impact on parental well-being, help-seeking and adherence to interventions. A number of child characteristics typical of behavioural dysregulation (impulsivity, overactivity, repetitive behaviour) have been associated with presence of challenging behaviour but few studies have explored...

Aims: Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome associated with repetitive behaviour, social anxiety, hyperactivity and ASD symptomatology. Recent research has suggested that people with CdLS have executive function (EF) difficulties and a possible decline in EF in CdLS with age. This study aimed to describe the profile of execut...

Background: It has been suggested that repetitive behaviour in autism spectrum disorder (ASD) could be accounted for by deficits in executive function (EF). Given the high levels of repetitive behaviour in Cornelia de Lange syndrome (CdLS) and the associations with ASD, this study examined the profile of EF and its relationship with ASD symptomatol...

Aim: People with Rubinstein Taybi Syndrome (RTS) have a distinct profile of repetitive behaviours characterized by high levels of repetitive questioning and adherence to routine and low levels of compulsive behaviours. We employed a developmental trajectory approach to investigate whether executive dysfunction underpins these behaviours in RTS. M...

Background: Rubinstein Taybi syndrome (RTS) affects approximately 1 in 125,000 live births and results from micro-deletions within chromosome 16 (16p.13.3). Individuals with RTS present with a social phenotype characterised by high levels of sociability and over-familiarity with strangers. High levels of repetitive behaviours are also evident. In t...