Journal of Intellectual Disability Research最新文献

Background: Fragile X Syndrome (FXS) is a genetic disorder caused by the lack of FMRP, a crucial protein for brain development and function. FMR1 mutations are categorized into premutation and full mutation (FXSFull), with somatic mosaicism (FXSMos) modulating the FXS phenotype. Recent studies identified muscle activity alterations during gait in FXS children. This study aims to explore the relationship between these muscle activity changes and motor fibre recruitment strategies during gait in FXS children.

Methods: Fifty-four FXS children and fourteen healthy controls participated in the study. Gait trials at self-selected speeds were recorded using four synchronized cameras and a surface electromyography system that captured bilateral activity of Gastrocnemius lateralis, Tibialis anterior, Rectus and Biceps femoris muscles. The continuous wavelet transform, using the 'bump' mother wavelet, provided the percentage distribution of signal energy across nine frequency bands (50-Hz increments within a 450- to 10-Hz spectrum) and the Instantaneous MeaN Frequency (IMNF) time-frequency distribution.

Results: Results indicated that both FXSFull and FXSMos children exhibit a distinct fibre recruitment strategy compared to controls, with a higher percentage of total energy and elevated IMNF (p < 0.05).

Conclusions: This increased reliance on fast-twitch fibres may contribute to the observed fatigability and exercise intolerance in FXS children.

Background: Individuals with Down syndrome (DS) have an elevated likelihood of challenges with executive function (EF) throughout the lifespan, and syndrome-informed intervention approaches that strengthen these foundations during early childhood may be beneficial. This single group baseline versus postintervention pilot study presents findings from the implementation of a syndrome-informed, parent-mediated intervention designed to support the development of EF in preschool-aged children with DS (EXPO: Executive Function Play Opportunities).

Method: Participants were 34 children aged 3-7 years old with DS and their caregivers. The full sample participated in a novel 12-week parent-mediated intervention focused on building working memory, inhibitory control, cognitive flexibility and planning skills. Participants were evaluated at baseline and poststudy for feasibility outcomes and preliminary evidence of intervention efficacy.

Results: Activities were feasible for families to implement and appropriate for the developmental range of participants in the study. Preliminary evidence of efficacy was observed via laboratory-based EF outcome measures. Within-sample heterogeneity in response to intervention was also observed.

Conclusions: EXPO is feasible for a larger trial in its current form. Additional intervention modifications may further increase the potential impact of EXPO by addressing heterogeneity in presentations among young children with DS.

Background: The CTNNB1 syndrome is a neurodevelopmental disorder considered an ultra-rare disease, first discovered in 2012. Given its comorbidity of symptoms with more prevalent diseases, such as ASD or CP, many CTNNB1 syndrome patients had previously received those diagnosis. Therefore, the aim of this study is to establish differences on the cognitive and adaptive functioning of the CTNNB1 syndrome compared with ASD and CP.

Methods: A total of 55 paediatric patients-25 CTNNB1 syndrome, 17 ASD and 13 PC-were assessed with an extensive protocol for neuropsychological domains through in-person assessments and online meetings for the parent-reported questionnaire.

Results: No cognitive differences were found among verbal tasks between groups, even though CTNNB1 syndrome patients obtained significantly lower scores in visuospatial and logical tasks. Regarding adaptive functioning, ASD patients outperformed the CTNNB1 syndrome group in most domains, whereas CP patients did not differ as much, obtaining only lower scores in gross motor ability. Externalizing problems were more prevalent in the CTNNB1 syndrome group compared with the control groups. Also, correlations indicated improvement of cognitive and adaptive functioning over the years for the CTNNB1 syndrome patients.

Conclusions: This is the first study to compare the cognitive and adaptive functioning of CTNNB1 syndrome patients with control diseases and detect significant difference. Although intellectual disability is one of the main manifestations of the CTNNB1 syndrome, patients performed better on verbal cognitive tasks than in visuospatial and logical thinking exercises, while adaptive functioning performances did not differ from control groups.

Background: Overmedication of adults with intellectual (learning) disabilities, particularly the off-licence use of psychotropic medicines for behaviours that challenge in the absence of a psychiatric disorder, is a major public health concern and an example of health inequalities. In the United Kingdom, we coproduced online training resources backed up by face-to-face training for support staff (direct care workers) called SPECTROM involving all stakeholders, including adults with intellectual disabilities and their families, to help reduce the overmedication and implement NHS England's STOMP initiative.

Method: In a feasibility cluster randomised controlled trial, we trained service managers and support staff using two core modules of SPECTROM, namely, (a) Medicine/STOMP and (b) Alternatives to Medicine (ATM) using an online platform. These two core modules introduced 12 other modules and other online resources. We assessed trainees' knowledge of psychotropic medicines using the Psychotropic Knowledge Questionnaire-Revised (PKQ-R) and their attitude to behaviours that challenge using the Management of Aggression and Violence Attitude Scale-Revised-Intellectual Disabilities (MAVAS-R-ID) using a pre-post training design.

Results: The research team delivered SPECTROM training to 18 service managers and 122 support staff. Of the 140 trainees, 126 completed PKQ-R at baseline before and within 4 weeks after the training. There was a post-training improvement in PKQ-R scores in 42 of the 43 questions (97.7%), 22 of which were statistically significant differences (p < 0.001). The MAVAS-R-ID was completed at baseline and within 4 weeks of training by 125 trainees. The MAVAS-R-ID total score showed statistically significant post-training improvements (p < 0.01). Individual domain score analysis showed a statistically significant improvement in one of the five domains related to attitude regarding the use of medicine for behaviours that challenge.

Conclusions: The SPECTROM training seems to improve staff knowledge of psychotropic medicine, at least in the short-term, and attitude towards behaviours that challenge, particularly concerning the use of psychotropic medicine.

Objective: Using cumulative time spent with SpO₂ < 90% (CT90) as an indicator, this retrospective observational study aimed to assess the incidence and severity of hypoxemia during deep intravenous sedation for patients with intellectual disabilities. Additionally, it intended to identify patient characteristics and anaesthesia-related factors independently associated with CT90.

Study design: The pulse oximetry data were collected every 5 s during intravenous dental sedation in 144 patients with intellectual disabilities. Hypoxemia and severe hypoxemia were defined as SpO₂ < 90% and CT90 > 1%, respectively. Multiple linear regression analysis was performed to identify independent risk indicators associated with the occurrence of hypoxemia.

Results: More than one episode of hypoxemia occurred in 62% (89/144) of patients. CT90 was 1.9 ± 4.8% during sedation and severe hypoxemia developed in 35% (50/144) of patients. BMI was a significant independent patient risk indicator for severe hypoxemia but accounted for only 28% of the variability in its incidence. Notably, the use of a BIS monitor, an appropriate dose of propofol and an extra suctioning device were identified as independent factors that could improve SpO₂ level.

Conclusion: Severe hypoxemia frequently occurred during intravenous sedation, particularly in obese patients with intellectual disabilities. Technical and pharmacological improvements of sedation strategies are essential.

Background: The integration of systematic risk assessments into care settings for offenders with intellectual disabilities (IDs) is a growing priority, yet evidence on the validity of existing tools in this population remains limited. The Brøset Violence Checklist (BVC) is widely used to assess short-term violence risk, but its predictive accuracy in individuals with IDs remains uncertain. This study investigates the predictive validity of the BVC in a specialized institutional context for offenders with IDs, focusing on its performance across different shifts and demographic subgroups.

Method: A retrospective observational design was used to analyse 153 262 BVC assessments and 1325 documented severe violent incidents over 2.5 years in a secured Danish institution for offenders with IDs. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated across different BVC thresholds. Generalized linear mixed models (GLMMs) were applied to assess the influence of sex and time of day on predictive performance.

Results: The BVC demonstrated high specificity and NPV across all shifts, confirming its utility in identifying low-risk scenarios. However, sensitivity and PPV were limited, particularly during night shifts and at higher score thresholds. Predictive accuracy was highest during evening shifts, aligning with periods of increased staff-resident interactions. GLMM analyses indicated that the relationship between BVC scores and violence risk was moderated by sex and time of day, with female residents and low-activity periods presenting unique challenges to prediction.

Conclusions: The findings underscore the need for population-specific adaptations to the BVC, particularly to address contextual and demographic factors influencing aggression in ID populations. Recommendations include supplemental assessment strategies for low-activity shifts, sex-specific behavioural indicators and the development of tailored tools for ID care settings. This study advances the understanding of violence risk dynamics in ID populations and informs interventions to enhance safety for residents and staff.

Background: Self-injurious behaviour (SIB) is a common problem among individuals with intellectual and developmental disabilities (IDDs) with important impacts on quality of life. Although some evidence suggests that SIB may increase with age, perhaps in a curvilinear pattern, this is primarily based on cross-sectional studies. Therefore, the purpose of the current study was to conduct a prospective, longitudinal analysis of age-related changes in a high-risk cohort of children with developmental disabilities/delays.

Methods: A total of 110 participants, between 2 and 12 years of age at enrolment (70% male), were followed for between 2 and 4 years. Caregivers completed the RBS-EC SIB subscale annually, for a total of 317 assessments. The SIB total score, SIB interference ratings and endorsement of specific topographies were selected as dependent measures. Generalised linear models evaluating linear, quadratic and cubic age-related changes and differences by intellectual disability (ID) status (no or mild ID vs. moderate to profound ID) were created for each outcome.

Results: For SIB total scores, the model suggested complex developmental patterns that varied by degree of ID. For SIB interference ratings, the model suggested that individuals with moderate to profound ID showed relatively high and stable levels of SIB interference across ages, whereas individuals with no or mild ID showed an increasing trend with age. Patterns varied across the specific SIB topographies.

Discussion: The results suggest that age-related changes in SIB are complex and may vary across topographies. Overall, the results are concerning in that they indicate a potentially increasing trend in frequency of SIB and its impact on daily activities as individuals approach adolescence, indicating the need for further longitudinal work across the lifespan.

Background: The nine-item Physical Health Questionnaire (PHQ-9), the seven-item Generalised Anxiety Disorder scale (GAD-7) and the Work and Social Adjustment Scale (WSAS) are, respectively, self-report measures of depression, generalised anxiety, and the impact of mental health on the person's personal functioning that are widely used in mainstream mental health services in England. The psychometric properties of these scales when used with people with intellectual disabilities have not been established.

Method: Item level data for the PHQ-9 (n = 128), GAD-7 (n = 124) and WSAS (n = 133) for people with intellectual disabilities in an English NHS Talking Therapies for anxiety and depression (NHSTT) service in the north of England were analysed using internal reliability statistics and confirmatory factor analysis.

Results: In this study, the full PHQ-9, GAD-7 and WSAS have Cronbach's α of 0.81, 0.84 and 0.81, respectively, and have acceptable ranges of corrected item-total correlations. The two-factor structures for the PHQ-9 and the GAD-7 were a better fit than single-factor structures, although the single-factor fit and the correlation between the two factors within each scale suggest that their use as a single scale is justified. The single-factor structure for the WSAS was a good fit.

Conclusions: In this study, the widely used PHQ-9, GAD-7 and WSAS demonstrate internal consistency values and factor analysis structure similar to those for individuals without intellectual disabilities. The data support the use of these measures for people with intellectual disabilities attending routine primary care mental health services.

Background: It is important to hear the perspectives of people with intellectual disabilities on dementia. This review aimed to explore views and experiences of dementia from the perspective of people with intellectual disabilities and methodologies enabling people with intellectual disabilities and dementia to participate in qualitative research.

Methods: Studies were identified in database searches, along with reference and citation searches. Qualitative data were reviewed using thematic synthesis and risk of bias assessed using the Critical Appraisal Skills Programme (2018). Methodologies used to include participants with intellectual disabilities and dementia were reviewed.

Results: Findings from 11 studies, with a total of 47 participants, highlighted loss of ability, relationships and connection associated with dementia, counteracted by support from others, and maintenance of a sense of self through choice, relational connection and competence. A range of methodologies were identified to enable participants with intellectual disabilities and dementia to participate in research.

Conclusions: This review highlights emerging, albeit demographically limited, qualitative research in this field. It suggests ways to build on this including methodologies to facilitate inclusion of people with intellectual disabilities and dementia in further research.

Background: For young people with rare conditions associated with intellectual disability, the transfer from paediatric to adult healthcare providers is often complicated. European Reference Network ERN-ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) on Rare Congenital Malformations and Rare Intellectual Disability aims to develop a clinical practice guideline to improve this transition. The aim of this study was to identify which aspects of the transition to adult care matter most and to describe the current care gap as experienced by European caregivers to inform the guideline scope.

Methods: An international web-based survey was conducted by ERN-ITHACA in January-February 2023. Priorities for a good transition process and current care gaps in Europe were identified using the 'Mind the Gap' scale. The surveys were created in plain and easy-to-read language and available in nine European languages.

Results: One hundred fifty-seven caregivers from 15 European countries completed the survey, representing over 40 conditions, including the Phelan-McDermid, Rubinstein-Taybi, 22q11.2 deletion and Kleefstra syndromes. Care gaps were identified, particularly related to process issues such as the preparation for and adaptation to adult healthcare, supporting independence and planning for the future. Items considered essential for optimal healthcare were related to individualised approaches, information provision and coordination of care.

Discussion: Coordinated, specialised, individualised and multidisciplinary care is required to support youth with rare conditions and intellectual disability in the transitional age. Supporting young people's independence, orchestrating multidisciplinary care and ensuring effective communication are particularly challenging in the transition to adult healthcare for this population.