Measurement tools for behaviours that challenge and behavioural function in people with intellectual disability: A systematic review and meta-analysis of internal consistency, inter-rater reliability, and test-retest reliability.

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 consistency, inter-rater reliability, and test-retest reliability of measures of BtC and behavioural function in people with ID (PROSPERO: CRD42021239042). Web of Science, Embase, PsycINFO and MEDLINE were searched from inception to March 2024. Retrieved records (n = 3691) were screened independently to identify studies assessing eligible measurement properties in people with ID. Data extracted from 83 studies, across 29 measures, were synthesised in a series of random-effects meta-analyses. Subgroup analyses assessed the influence of methodological quality and study-level characteristics on pooled estimates. COSMIN criteria were used to evaluate the measurement properties of each measure. Pooled estimates ranged across measures: internal consistency (0.41-0.97), inter-rater reliability (0.29-0.93) and test-retest reliability (0.52-0.98). The quantity and quality of evidence varied substantially across measures; evidence was frequently unavailable or limited to a single study. Based on current evidence, candidate measures with the most evidence for internal consistency and reliability are discussed; however, continued assessment of measurement properties in ID populations is a key priority.

'It wasn't the strategies on their own': Exploring caregivers' experiences of accessing services in the development of interventions for autistic people with intellectual disability.

LAY ABSTRACT: Many autistic individuals with intellectual disability experience anxiety, and for those who use few or no words, anxiety may present as behaviour that challenges, such as self-injury and avoiding anxiety-provoking situations. Families report difficulty accessing support from services for autistic individuals experiencing anxiety. Moreover, once receiving support, effective interventions for autistic people with intellectual disability are limited. We completed individual and group discussions with 16 caregivers of autistic people with intellectual disability, to (a) explore their experiences of accessing services for anxiety and/or behaviour that challenges for their child; and (b) understand what matters to caregivers when developing interventions that have been designed for them and the autistic individual with intellectual disability that they support. Caregivers reported that services, in their experience, did not deliver the support that they expected, and that they often needed to 'fight' for support. Caregivers considered services and families working together, the inclusion of peer support, and families being offered interventions that are flexible to individual circumstances to be important. These considerations are valuable for clinicians and researchers developing interventions and aiming to improve outcomes for autistic people with intellectual disability and their families.

The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.

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 characteristics, elucidating the behavioral phenotype of RTS. The reporting of this review was informed by PRISMA guidelines. A systematic search of CINAHL, Medline, and PsychINFO was carried out in March 2021 to identify group studies describing behavioral, cognitive, emotional, psychiatric, and social characteristics in RTS. The studies were quality appraised. Characteristics reported include repetitive behavior, behaviors that challenge, intellectual disability, mental health difficulties, autism characteristics, and heightened sociability. Findings were largely consistent across studies, indicating that many characteristics are likely to form part of the behavioral phenotype of RTS. However, methodological limitations, such as a lack of appropriate comparison groups and inconsistency in measurement weaken these conclusions. There is a need for multi-disciplinary studies, combining genetic and psychological measurement expertise within single research studies. Recommendations are made for future research studies in RTS.

Prevalence of anxiety symptomatology and diagnosis in syndromic intellectual disability: A systematic review and meta-analysis.

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 groups whilst accounting for methodological quality of studies. This systematic review and meta-analysis aimed to fill this gap. Prior to review completion, methodology and analysis plans were registered and documented in a protocol (CRD42019123561). Data from 83 papers, involving a pooled sample of 13,708 across eight syndromes were synthesised using a random effects model. Anxiety prevalence ranged from 9 % (95 % CI: 4-14) in Down syndrome to 73% in Rett syndrome (95 % CI: 70-77). Anxiety prevalence across syndromic intellectual disability was higher than for intellectual disability of mixed aetiology and general population estimates. Substantial variability between syndromes identified groups at higher risk than others. The identification of high-risk groups is crucial for early intervention, allowing us to refine models of risk and identify divergent profiles.

The adaptive functioning profile of Pitt-Hopkins syndrome.

BACKGROUND: There are few cohort studies describing the adaptive functioning profile for Pitt-Hopkins syndrome (PTHS). In this study we examine the adaptive functioning profile for PTHS and compare it to Angelman syndrome (AS). METHOD: Caregivers of 14 individuals with PTHS, 33 with deletion AS and 23 with non-deletion AS, completed the Vineland Adaptive Behavior Scales-II. RESULTS: The profile of adaptive functioning in PTHS was characterised by strengths in socialisation, followed by motor skills, communication then daily living skills. The PTHS group scored significantly lower than the non-deletion AS group on all domains except socialisation and significantly lower than the deletion AS group, for motor skills only. CONCLUSIONS: An uneven adaptive behavior profile for individuals with PTHS mirrors that of AS, with implications for assessment and intervention.

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

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.

Communication in Angelman syndrome: a scoping review.

AIM: A scoping review was conducted to examine and evaluate empirical data on the communication profile of Angelman syndrome beyond the described dissociation between receptive language and speech. METHOD: Three databases (PsycINFO, Embase, and Web of Science) were searched to retrieve articles investigating communication in Angelman syndrome. Seventeen articles investigating the broader communication profile were found; their methodology was evaluated against quality criteria. RESULTS: Despite the absence of speech, individuals with Angelman syndrome have a wide repertoire of non-verbal communicative behaviours, mainly characterized by gestures, although advanced forms such as symbolic communication are used by some individuals. The use of communicative forms differs between the genetic aetiologies of Angelman syndrome; individuals with non-deletion aetiologies typically have greater communicative abilities. INTERPRETATION: The broader communication profile of Angelman syndrome is characterized by diverse and multimodal abilities, including some use of symbolic forms of communication that appears atypical given the absence of speech. This is suggestive of a probable dissociation between speech and other expressive forms of communication, indicating an isolated speech production impairment. This highlights a need in this population for alternative communication and specific input from services tailored to support the nuances of the communication profile of Angelman syndrome. WHAT THIS PAPER ADDS: Although absent speech is near universal, a diverse profile of other communicative abilities has been reported. Parental reporting has been predominantly used to assess the communication profile of Angelman syndrome. Literature that investigates the specificities and possible dissociations in such a communication profile is limited.