Testing SIPA1L2 as a modifier of CMT1A using mouse models.

Charcot-Marie-Tooth disease type 1A (CMT1A) is a demyelinating peripheral neuropathy caused by the duplication of peripheral myelin protein 22 (PMP22), leading to muscle weakness and loss of sensation in the hands and feet. A recent case-only genome-wide association study of CMT1A patients conducted by the Inherited Neuropathy Consortium identified a strong association between strength of foot dorsiflexion and variants in signal induced proliferation associated 1 like 2 (SIPA1L2), indicating that it may be a genetic modifier of disease. To validate SIPA1L2 as a candidate modifier and to assess its potential as a therapeutic target, we engineered mice with deletion of exon 1 (including the start codon) of the Sipa1l2 gene and crossed them to the C3-PMP22 mouse model of CMT1A.

Facilitating the identification of intellectual disability in schools: A qualitative study of stakeholder views.

Background: Many children experience delayed or missed identification of an intellectual disability diagnosis, meaning that key opportunities for early educational intervention may be lost.

Methods: Semi-structured interviews were used to explore the views of teachers, parents, and clinicians (n = 22), about the use of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) and what could improve screening and identification of intellectual disability in schools. Thematic analysis was used to identify relevant themes.

The views of people using homeless services about learning disability.

Aims: People with a learning disability are at increased risk of becoming homeless, but little is known about how learning disability is viewed by people accessing homeless services. This study aimed to obtain the views of people experiencing homelessness about learning disability, in the context of a project that was exploring how to increase identification of learning disability.

Methods: A qualitative approach was used, and 19 adults were interviewed who were receiving support from homeless services in the North-East of England.

Using the learning disability screening questionnaire to help identify people with an intellectual disability in homeless services.

Background: We explored the accuracy of using the learning disability screening questionnaire (LDSQ) in services for people experiencing homelessness in the United Kingdom.

Method: We examined the concordance between the LDSQ outcomes and assessments of intellectual disability. Seventy adults experiencing homelessness completed the LDSQ.

An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response.

The Retinoid-related orphan receptor beta (RORβ) gene encodes a developmental transcription factor and has 2 predominant isoforms created through alternative first exon usage; one specific to the retina and another present more broadly in the central nervous system, particularly regions involved in sensory processing. RORβ belongs to the nuclear receptor family and plays important roles in cell fate specification in the retina and cortical layer formation. In mice, loss of RORβ causes disorganized retina layers, postnatal degeneration, and production of immature cone photoreceptors.

Short Report: Exploring the extent to which Intellectual Disability is undiagnosed within children attending developmental paediatric clinics.

Intellectual Disability is under-ascertained worldwide and is associated with greater physical and mental health difficulties. This research aimed to identify clinical features and characteristics of children with Intellectual Disability in a population of 126 6-18 year olds in mainstream school, attending paediatric developmental clinics. Intellectual Disability was defined according to the DSM-5 (deficits in intellectual and adaptive functioning, present during childhood).

An exploration of the impact of contextual information on the emotion recognition ability of autistic adults.

Studies of non-autistic individuals and people with an intellectual disability show that contextual information impacts positively on emotion recognition ability, however, this area is not well researched with autistic adults. We investigated this using a static emotion recognition task. Participants completed an emotion recognition task in person or online.

A quantitative evaluation of a regional Positive Behavioural Support workforce development approach.

Background: Research suggests that providing staff with input in relation to Positive Behavioural Support (PBS) can have beneficial outcomes. Much of this research, however, fails to take account of systemic issues and does not include a control group.

Method: We used a non-randomised, controlled group design to evaluate accredited PBS programmes, delivered as part of a systemic, regional and workforce development approach.

The impact of COVID-19 restrictions in the United Kingdom on the positive behavioural support of people with an intellectual disability.

Unlabelled: The way that people with an intellectual disability are supported is very important.The COVID-19 virus has changed the way that staff help people with an intellectual disability.We wanted to know about those changes and whether learning about positive behavioural support (PBS) helped staff to cope with them.

The use of an implementation science theoretical framework to inform the development of a region wide Positive Behavioural Support Workforce Development approach.

Background: Concern about the poor care of some people with an intellectual disability has highlighted the need for systemic, large-scale interventions to develop a skilled workforce.

Method: We outline how an implementation science theoretical model informed the development of a region-wide Positive Behavioural Support (PBS) Workforce Development (WFD) approach.

Results: We provide an example of the application of the model in practice and demonstrate how this enabled us to understand the competencies and development needs of the workforce; engage effectively with stakeholders; and develop, deliver and evaluate a PBS WFD model.

Developmental Cascades from Aggression to Internalizing Problems via Peer and Teacher Relationships from Early to Middle Adolescence.

Previous research has provided evidence for developmental cascades between externalizing and internalizing problems via mechanisms such as peer and academic problems; however, there remains a need to illuminate other key mediating processes that could serve as intervention targets. This study, thus, evaluated whether developmental associations between aggression and internalizing are mediated by teacher-as well as peer-relationships. Using data from z-proso, a longitudinal study of Swiss youth (n = 1523; 785 males), an autoregressive latent trajectory model with structured residuals (ALT-SR) was fit over ages 11, 13, and 15 to examine within-person developmental links between aggression, internalizing problems, and the mediating role of peer and teacher relationships, while disaggregating between- and within-person effects.

'It's been adapted rather than impacted': A qualitative evaluation of the impact of Covid-19 restrictions on the positive behavioural support of people with an intellectual disability and/or autism.

Background: We used a qualitative approach to explore the experiences of social care staff regarding the provision of positive behavioural support (PBS) to people with an intellectual disability at the height of the Covid-19 restrictions.

Method: We conducted semi-structured interviews with 19 staff who had recently completed a PBS workforce development programme. Data were analysed using thematic analysis.

The use of therapeutic untruths by learning disability nursing students.

Background: The use of therapeutic untruths raises a number of ethical issues, which have begun to be explored to some extent, particularly in dementia care services, where their use has been found to be high. Little is known, however, about their use by health professionals working in learning disability services.

Research Question: The study aimed to explore the frequency of use of therapeutic untruths by student learning disability nurses, and by their colleagues; how effective the students perceived them to be as a means of responding to behaviours that challenge; and their level of comfort with using them.

The use of therapeutic untruths by staff supporting people with an intellectual disability who display behaviours that challenge.

Background: Therapeutic untruths (TU) are used in dementia services to de-escalate distressing situations. The present authors explored the use of TU by care staff supporting people with an intellectual disability who displayed behaviours that challenged.

Method: Data were collected from 126 staff (female = 72.

"Look, all our hard work is paying off": A qualitative evaluation of a system-wide, workforce development model to promote positive behavioural support.

Background: Positive behavioural support (PBS) has been identified as a means of improving the quality of life and support of people with an intellectual disability. This qualitative study explored the views of service providers about a regional PBS programme, that was underpinned by a workforce development approach.

Method: Semi-structured interviews were conducted with senior staff (n = 42), from organizations which provided services to people with an intellectual disability, about their views about, and perceived impact of, the PBS programme, Data were analysed using thematic analysis.

An evaluation of the distribution properties, factor structure, and item response profile of an assessment of emotion recognition.

Many people with developmental disabilities, such as autism spectrum disorder and intellectual disability have emotion recognition (ER) difficulties compared with typically developing (TD) peers. Accurate assessment of the extent and nature of differences in ER requires an understanding of the response profiles to ER assessment stimuli. We analysed data from 504 TD individuals in response to an ER assessment in respect of distribution properties, factor structure, and item response profile.

Reciprocal Developmental Relations Between ADHD and Anxiety in Adolescence: A Within-Person Longitudinal Analysis of Commonly Co-Occurring Symptoms.

Unlabelled: Significant anxiety often occurs in the presence of ADHD symptoms; however, the reasons are not well understood. We aimed to establish whether the relations between ADHD symptons and anxiety are bidirectional or unidirectional.

Method: Weexamined the developmental relations between ADHD and anxiety symptoms across adolescence (ages 13, 15, and 17) in a community-ascertained, normative longitudinal sample of 1,483 youth (52% male).

The impact of an adult intellectual disability screening questionnaire on service providers and users.

Background: One contributor to the health inequalities that people with an intellectual disability face is failure to identify their intellectual disability. The Learning Disability Screening Questionnaire (LDSQ) can identify adults who are likely to have an intellectual disability, but little is known about its impact.

Methods: A modified Delphi approach (literature search, interviews with staff and those using services [n = 28], and completion of an online survey by professionals [n = 29]) was used to develop a framework to evaluate the impact of the LDSQ.

Validation of a Brief Self-Report Measure of Adolescent Bullying Perpetration and Victimization.

Although a wide range of measures of bullying have been developed, there remains a need for brief psychometrically supported measures for use in contexts in which there are constraints on the number of items that can be administered. We thus evaluated the reliability and validity of scores from a 10-item self-report measure of bullying victimization and perpetration in adolescents: the Zurich Brief Bullying Scales. The measure covers social exclusion, property destruction, verbal and physical aggression, and sexual bullying in both traditional and cyber forms.

Homelessness-'It will crumble men': The views of staff and service users about facilitating the identification and support of people with an intellectual disability in homeless services.

People with an intellectual disability (ID) face significant health inequalities and barriers to accessing appropriate support, which are made worse if the person is also homeless. An important barrier is that services may not recognise that the person has ID. This qualitative study explored the views of staff members and service users about the identification and support needs of homeless people with ID and the role of an ID screening questionnaire as a way to help improve service provision.

An Analysis of Response Shifts in Teacher Reports Associated with the Use of a Universal School-Based Intervention to Reduce Externalising Behaviour.

School-based psychosocial interventions are a widely used approach to prevent or reduce externalising behaviour. However, evaluating the effects of such interventions is complicated by the fact that the interventions may not only change the target behaviour, but also the way that informants report on that behaviour. For example, teachers may become more aware of bullying behaviour after delivering lessons on the topic, resulting in increased teacher reports of the behaviour.

Screening for intellectual disability with the Child and Adolescent Intellectual Screening Questionnaire: a modified Delphi approach.

Aim: To develop a consensus framework to evaluate the impact of screening for intellectual disability, using the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) in paediatric neurodevelopment clinics.

Method: A modified Delphi survey with four phases (literature review; initial development of framework [participants=11 parents, 8 professionals]; qualitative interviews [participants=4 parents, 15 professionals]; questionnaire development [participants=31 parents, 14 professionals] was used to develop the consensus framework. The framework was used to evaluate the impact of screening on six paediatricians and 31 parents of children who had participated in a previous paediatric screening project.

Should We Subtype ADHD According to the Context in Which Symptoms Occur? Criterion Validity of Recognising Context-Based ADHD Presentations.

ADHD symptoms show considerable individual variation in the contexts in which they are expressed. It has previously been proposed that subtyping individuals according to the contexts in which symptoms are expressed may be clinically useful. We examined context-based patterns of ADHD symptoms in a longitudinal cohort study of n = 1388 children, as well as context-specific and context-general predictors of symptoms.

Sex differences in ADHD trajectories across childhood and adolescence.

Previous studies have hinted at sex differences in developmental trajectories in ADHD symptoms; however, little is known about the nature or cause of these differences and their implications for clinical practice. We used growth mixture modelling in a community-ascertained cohort of n = 1,571 participants to study sex differences in ADHD symptom developmental trajectories across the elementary and secondary school years. Participants were measured at ages 7, 8, 9, 10, 11, 12, 13, and 15.