Intellectual Disability Research Articles

Adapting Complicated Grief Therapy for Use With People With Intellectual Disabilities: An Action Research Study.

There is established evidence of complicated grief among people with an intellectual disability. This paper describes the process of adapting complicated grief therapy (CGT) for this population. Action research documented the adaptation of CGT. Qualitative methods included analysing meeting notes, reflective interviews with two members of the team involved in adapting the materials, and interviews with six professionals working in disability settings who reviewed the adapted materials. Key processes included adapting the standardised tools that form part of CGT and developing adapted approaches to abstract concepts related to death, dying and bereavement. Key therapeutic components such as imaginal revisiting and the role of significant others required adaptation for implementation with people with intellectual disabilities. The importance of adapting evidence-based therapies for people with intellectual disabilities is emphasised. This research provides an adapted form of an established therapy for piloting with this population.

'A potentially ticking time bomb' - barriers for prevention, diagnosis, and treatment of cardiovascular disease in people with intellectual disabilities.

Research suggests that people with intellectual disabilities have a higher risk for cardiovascular disease than the general population. The aim of this study was to identify barriers for the prevention, diagnosis, and treatment of cardiovascular disease for people with intellectual disabilities. We conducted individual interviews with relatives and general practitioners and focus group interviews with staff working at an assisted home facility, a cardiac ward, an obesity clinic and two rehabilitation centres (n = 33) in Norway. Inductive approach and thematic analysis were used to analyse the data. We identified barriers on an individual and a structural level. The underlying reason for these barriers is that health problems, such as cardiovascular disease, are regularly overlooked as the condition of intellectual disability overshadows other possible diagnoses. This focus on intellectual disability rather than other explanations leads to shortcomings in the prevention, diagnoses, and treatment of cardiovascular disease in this group.

Using a Capability Approach to Explore How People With Intellectual Disabilities Can Lead Flourishing Lives.

People with intellectual disabilities remain disadvantaged in many aspects of everyday life. Capability approach is an underused approach in social care research and has at its core the importance of having capabilities or opportunities to do what we value. We use this approach to explore how people with intellectual disabilities can be supported to lead flourishing lives. Interviews and focus groups were conducted with 50 people with intellectual disabilities and 28 family carers. Data were analysed using an adapted template approach and conceptual analysis. Our analysis led to the identification of one overarching theme; 'Doing what you love and growing' and sub-themes; 'Choice, opportunity and empowerment', 'Being out in the world' and 'Lowered expectations and static lives'. People with intellectual disabilities can lead capability-deprived lives. Methodological and practice innovation is needed to better understand what people value and ensure they have capability sets that enable flourishing lives.

'It's Not Like a One-Way Street': Using Photovoice to Understand How College Students With Intellectual Disability Experience Interdependence.

Many people view people with intellectual disability primarily as needing help. That perspective limits relationships and can promote discrimination. We sought to better understand social relationships among young adults with intellectual disability. Seven postsecondary students with intellectual disability participated in a photovoice study, sharing photos and stories about giving and receiving help. They participated in individual interviews, a group meeting, and a photo exhibition, and helped identify results and conclusions. Participants viewed themselves as helpers and recipients of help. Themes were: foundational importance of families; openness to being helped; personal growth through challenging experiences; and tension between wanting to help and risks of helping others. Participants wanted to raise awareness that people with disabilities can help others, educate them about disability, and contribute to research. Many young adults with intellectual disability want to contribute to relationships, which are often limited by others' expectations about disability.

A systematic review and meta-analysis of the effectiveness of interventions targeting the parent-child relationship in families of children with an intellectual disability.

The review aimed to investigate the effectiveness of parent-child relationship interventions for families of children with intellectual disability up to 12 years old. Quasi-experimental or randomised controlled trials (RCTs) of interventions targeting the parent-child relationship where ≥50% of children had an intellectual disability were included. Meta-analyses of parent-child relationship outcomes and child outcomes used standardised mean difference as the effect size. Twenty-seven papers were included (N = 1325). Parent-child relationship outcomes improved significantly (n = 1325; g = 1.08, 95% CI: 0.64, 1.52) with a large effect size that was robust to sensitivity analyses. Child developmental outcomes improved significantly (n = 1082; g = 0.65, 95% CI: 0.23, 1.07), and indicated a large effect size for child socialisation and communication. Findings suggest that interventions targeting parent-child relationship quality are associated with substantial improvements in parent-child relationship and may improve child outcomes related to socialisation and communication.

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X-linked intellectual disability (XLID) is a subset of these disorders caused by genetic defects on the X chromosome, affecting about 2 out of 1,000 males. In syndromic form, it leads to a broad range of cognitive, behavioral, ocular, and physical disabilities. Employing exome or genome sequencing, here we identified 4 missense variants (c.475C > G; p.H159D, c.1373C > A; p.T458N, and c.1585G > A; p.E529K, c.953C > T; p.S318L) and a putative truncating variant (c.1413_1414del; p.Y471*) in the SRPK3 gene in 9 XLID patients from 5 unrelated families. To validate SRPK3 as a novel XLID gene, we established a knockout (KO) model of the SRPK3 orthologue in zebrafish. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Together, these data indicate a pathological role of SRPK3 in neurodevelopmental disorders. In post-fertilization day 5 larvae (free swimming stage), KO zebrafish exhibited severe deficits in eye movement and swim bladder inflation, mimicking uncontrolled ocular movement and physical clumsiness observed in human patients. In adult KO zebrafish, cerebellar agenesis and behavioral abnormalities were observed, recapitulating human phenotypes of cerebellar atrophy and intellectual disability. Overall, these results suggest a crucial role of SRPK3 in the pathogenesis of syndromic X-linked intellectual disability and provide new insights into brain development, cognitive and ocular dysfunction in both humans and zebrafish. ANN NEUROL 2024;96:914-931.

Easy read health information for people with intellectual disabilities: A linguistic discourse analysis. What happens to language when it is simplified?

Easy Read health documents prepared for people with intellectual disabilities are often generated from Standard Texts. Language in Easy Read versions is typically assumed to be simpler. However, simplification of language may have unintended consequences. This study aimed to explore the differences in language used between Easy Read health material and the Standard Text versions of the same material produced for the general population. Five Easy Read/Standard Text pairs were sampled and analysed using Systemic Functional Linguistics. This addressed: how people with intellectual disabilities and others were represented by language, the author stance in relation to the reader and the overall organisation of the text. The Easy Read versions often used language that was less empowering and inclusive. Increased awareness of author power and better knowledge of the impact of language choice could help to redress these issues.

The Use of Snoezelen to Support People With Profound Intellectual and Multiple Disabilities: An International Survey Describing the Perspectives of Support Persons.

Snoezelen is often used for people with profound intellectual and multiple disabilities, but scarcely evaluated. This study aimed to provide insight into the application and perceived effects of snoezelen from the perspective of support persons. We conducted an international survey with professionals (n = 130) and relatives (n = 8) supporting people with profound intellectual and multiple disabilities. Information regarding the application and perceived effects was gathered. Content and descriptive analysis were used. Despite variation, common characteristics were identified regarding purpose, approach and context. Perceived positive effects mostly concerned improved mental health of the person receiving snoezelen (n = 88). A person-centred approach was reported as important element for positive effects. This study describes the use of snoezelen for people with profound intellectual and multiple disabilities. These insights can be used for future research into working elements and effects of snoezelen and facilitate evidence-based support.

Digital motor intervention effects on motor performance of individuals with developmental disabilities: a systematic review.

Individuals (i.e. children/young adults) with developmental disabilities (DDs) and intellectual disabilities (IDs) often display a variety of physical and motor impairments. It is well known that participation in motor activities can positively impact the development of children's cognitive and social skills. Recently, virtual and digital technologies (e.g. video conferencing applications, virtual reality and video gaming) have been increasingly used to promote better physical/motor outcomes. The efficacy of digital technologies in improving motor outcomes for those with DD/ID varies depending on the technology and population, and the comparative effects of various technologies are unknown. The aim of our study is to conduct a systematic review to comprehensively examine the quantitative and qualitative results of current studies reporting the efficacy of digitally based motor interventions on motor outcomes in individuals with DD/ID. Literature published from 1900 to 2024 was searched in four health sciences databases: PubMed, PsycINFO, Scopus and CINAHL. Articles that examined the effects of gross motor/physical activity training using technologies such as exergaming (i.e. exercise through video gaming such as the Wii and Xbox Kinect), virtual reality or telehealth video conferencing applications (i.e. Zoom, Webex or mobile health apps) on the standardised or game-specific gross motor performance of individuals with DD/ID diagnoses that do not typically experience significant walking challenges using experimental or quasi-experimental study designs were included. Thirty relevant articles were retrieved from a search of the databases PubMed (914), PsycINFO (1201), Scopus (1910) and CINAHL (948). Our quantitative synthesis of this published literature suggests strong and consistent evidence of small-to-large improvements in motor skill performance following digital movement interventions. Our review supports the use of digital motor interventions to support motor skill performance in individuals with DD without ID. Digital technologies can provide a more engaging option for therapists to promote motor skill development in individuals with DD or for caregivers to use as an adjunct to skilled therapy.

The association between aggressive behaviour and non-suicidal self-injury and shared risk factors in adults with mild intellectual disability.

Aggressive behaviour (AB) and non-suicidal self-injury (NSSI) are common in people with mild intellectual disability or borderline intellectual functioning, leading to adverse consequences for themselves and those around them. We investigated the relationship between AB (both total and physical in particular) and NSSI and risk factors in 125 residents in a treatment clinic using incident reports and standard clinical measurements. There was a weak correlation between AB and NSSI, as well as between impulsivity and total AB, and between coping and AB and NSSI. However, NSSI, impulsivity and coping skills did not predict AB. Results do not corroborate those of other studies in this area. In future studies impulsivity, coping, aggression and NSSI may be measured using other instruments, and differences between people with and without intellectual disability regarding these variables may be explored.

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

ANK3 encodes ankyrin-G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin-G isoforms comprising different domains with distinct expression patterns. Mono- or biallelic ANK3 variants are associated with non-specific syndromic intellectual disability in 14 individuals (seven with monoallelic and seven with biallelic variants). In this study, we describe the clinical features of 13 additional individuals and review the data on a total of 27 individuals (16 individuals with monoallelic and 11 with biallelic ANK3 variants) and demonstrate that the phenotype for biallelic variants is more severe. The phenotypic features include language delay (92%), autism spectrum disorder (76%), intellectual disability (78%), hypotonia (65%), motor delay (68%), attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD) (57%), sleep disturbances (50%), aggressivity/self-injury (37.5%), and epilepsy (35%). A notable phenotypic difference was presence of ataxia in three individuals with biallelic variants, but in none of the individuals with monoallelic variants. While the majority of the monoallelic variants are predicted to result in a truncated protein, biallelic variants are almost exclusively missense. Moreover, mono- and biallelic variants appear to be localized differently across the three different ankyrin-G isoforms, suggesting isoform-specific pathological mechanisms.

P2X7 expression patterns in the developing Fmr1-knockout mouse hippocampus.

Fragile-X Syndrome (FXS)is the leading monogenetic cause of intellectual disability among children but remains without a cure. Using the Fmr1 KO mouse model of FXS, much work has been done to understand FXS hippocampus dysfunction. Purinergic signaling, where ATP and its metabolites are used as signaling molecules, participates in hippocampus development, but it is unknown if purinergic signaling is affected in the developing Fmr1 KO hippocampus. In our study, we characterized the purinergic receptor P2X7. We first found that P2X7 was reduced in Fmr1 KO whole hippocampus tissue at P14 and P21, corresponding to the periods of neurite outgrowth and synaptic refinement in the hippocampus. We then evaluated the cell-specific expression of P2X7 with immunofluorescenceand found differences between WT and Fmr1 KO mice in P2X7 colocalization with hippocampal microglia and neurons. P2X7 colocalized more with microglia at P14 and P21, but there was a sex-specific reduction in P2X7 colocalization with neurons. In contrast, male mice at P14 and P21 showed reduced neuronal P2X7 colocalization compared to females, but only females showed reduced absolute neuronal P2X7 expression across the dorsal hippocampal formation. Together, our results suggest that P2X7 expression is altered during Fmr1-KO hippocampal development, potentially influencing several developmental processes in the Fmr1-KO hippocampus formation.

Seizure solver- pyridoxine dependent seizures

Pyridoxine dependency is a rare cause of seizures. Pyridoxine dependent seizures (PDS) occur despite normal vitamin B6 levels and is due to defective binding of pyridoxine to its apoenzyme, glutamate decarboxylase, which converts glutamic acid to gamma aminobutyric acid (GABA). Pyridoxine-dependent seizure is a rare autosomal recessive disorder that usually presents with neonatal intractable seizures. Parenteral pyridoxine injection test is a highly effective and reproducible test in confirming the diagnosis. Hunt, et al.(l) described the first case of PDS with autosomal recessive inheritance. Since then, several cases have been reported with onset of seizures after neonatal period (2-6). Pyridoxine-dependent epilepsy – ALDH7A1 (PDE-ALDH7A1) is characterized by seizures not well controlled with anti-seizure medication that are responsive clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). This is true across a phenotypic spectrum that ranges from classic to atypical PDE-ALDH7A1. Intellectual disability is common, particularly in classic PDE-ALDH7A1.(7)

Addressing health inequality and inequity for people with intellectual disabilities: a collective responsibility for all nurses

Purpose People with intellectual disabilities are high users of acute hospital care. Given their varied and often complex health-care needs, they often experience health inequalities and inequities, contributing to poorer health outcomes. As nurses are the largest health-care workforce with a patient-facing role, they have an important responsibility in meeting this populations health needs. The purpose of this paper is to explore key issues relating to the role nurses play in providing equitable health care for people with intellectual disabilities. Design/methodology/approach This service feature draws upon relevant literature to examine key contextual issues highlighting the importance of nurses in providing equitable health care for people with intellectual disabilities. Findings The findings from this service feature highlight the importance of nurses taking a leadership role in advocating for, and actively supporting the health needs of people with intellectual disabilities. Nurses’ leadership role, along with implementing reasonable adjustments, should be underpinned by education and training relating to the bespoke health needs of people with intellectual disabilities. This should help nurses promote the health and well-being of this population. Originality/value Addressing this populations health needs is a collective responsibility of all nurses. There are many examples of how nurses can be supported through policy, education, training and advocacy and this needs to be considered by key stakeholders and addressed as a matter of priority.

The immediate effect of listening to music on postural balance and mobility in individuals with intellectual disability

ABSTRACT Background Individuals with intellectual disability have deficits in postural balance and mobility. This study aimed to explore the effect of listening to music on postural balance and mobility in individuals with intellectual disability. Method Ten participants with intellectual disability and 10 participants with typical development performed postural balance and mobility tests [Time Up and Go (TUGT)/Ten Metre Walking (TMWT)] in three music conditions: no music, preferred music, and Mozart’s Jupiter music. Results Results revealed that listening to Mozart’s Jupiter decreased (p < 0.001) the center of pressure mean velocity values for both groups. In individuals with intellectual disability, the TUGT and the TMWT time to execution increased (p < 0.001) in the preferred music compared to the no music condition whereas the Mozart music has no significant effect (p ≥ 0.05). Conclusion Listening to Mozart’s Jupiter enhanced static postural balance, whereas listening to the preferred music impaired mobility in individuals with intellectual disability.

Bone Mineral Density Screening in People With Epilepsy and Intellectual Disability.

Vitamin D measurements and dual energy x-ray absorptiometry (DXA) scans are recommended in people with intellectual disability and/or epilepsy in order to prevent bone-linked harm. The prevalence of vitamin D supplementation and bone mineral density screening were evaluated in 68 people with epilepsy and intellectual disability (EID) and 68 matched controls with epilepsy without intellectual disability. DXA scans were not performed in any of the people with EID but were performed in 11.8% of the people in the control group. People with EID had a higher vitamin D supplementation rate and were treated with more antiepileptic drugs (AEDs) and more AED combinations, including first generation AEDs. Increased awareness of bone health screening in people with epilepsy and especially EID is warranted.

The Key Role of Gestures in Spatial Tasks for Students With Intellectual Disability.

The gestures produced by children with intellectual disability (ID) in spatial tasks are rarely considered, although they have a supporting role in the formation of thought. In this research study, we analyzed the number of gestures, the type of gestures, and their role in the expression of knowledge of students with ID. Twenty students (12-17 years old) with ID and 40 students with typical development (TD) matched on visual-spatial level (n = 20) and on language level (n = 20) participated in the research. Students with ID made significantly more gestures in relation to the number of words spoken compared to their peers with TD. Thirty percent of the expressive communication of students with ID came from gestures alone, and 60% of the responses contained at least one gesture. Finally, the higher the level of task difficulty, the more gestures the students made.

Providing Care to People With Intellectual and Developmental Disabilities in Medical Education.

Medical professionals commonly report having inadequate training providing care for individuals with intellectual and developmental disabilities (IDD). This pilot study aimed to address this gap through a virtual Objective Structured Clinical Examinations (OSCE) with individuals with IDD as patient educators for 25 first- and second-year medical students (OSCE participants). Quantitative data through the Prediger competency scale and qualitative data through a semistructured interview were analyzed. OSCE participants reported a significant increase (p < 0.05) in self-perceived competency scores when comparing pre- and post-OSCE scores. Qualitative analysis yielded themes corresponding to improving skills, practice considerations, and perspectives and biases changes. These results suggested that this virtual OSCE promoted the development of self-perceived clinical competency and comfort providing care for individuals with IDD.

Medication Management in Adults With Intellectual and Developmental Disabilities: Psychiatric Pharmacists in Primary Care.

This study describes the role of psychiatric pharmacists (PPs) in medication management at a county-hospital-based primary care clinic serving adults with intellectual and developmental disabilities (IDD). During a 20-week period, PPs provided 308 interventions for 97 patients with IDD, 55% of whom had a concomitant psychiatric/behavioral disorder and 70% of whom were taking at least one psychotropic medication. PP services included medication reviews (48%), medication histories (13%), collaborative care (12%), pharmacotherapy interventions (11%), advisory services (9%), and patient/caregiver education (7%). Psychotropics were involved in 66% of interventions. Our results demonstrate that PPs may address psychotropic-related challenges in this practice setting by performing a variety of services. Additional studies are needed to fully evaluate the impact of this integrative model.

Long-term mental health impairments in survivors of critical illness

Abstract Background Survivors of critical illness frequently suffer from long-term disabilities, including physical, cognitive, and mental impairments (post-intensive care syndrome). However, long-term studies are scarce and healthcare services for critical illness survivors are limited, not only in Germany. Therefore, we followed-up on anxiety, depression, and post-traumatic stress disorder (PTSD) during post-intensive care unit (ICU) rehabilitation and up to 1 year after critical illness onset. Methods Patients at Schoen Clinic Bad Aibling in Germany were eligible for this prospective cohort study after receiving ≥5 days of mechanical ventilation. The Hospital Anxiety and Depression Scale (HADS; subcategory score ≥8) was conducted after ICU discharge (V1), at discharge from inpatient rehabilitation (V2) and 1 year after critical illness onset (V3). The Impact of Event Scale-6 (score ≥1.75) was conducted to assess PTSD at V3. Multiple logistic regressions were performed. Results We included 250 patients (62±14 years, 34% female, median stay on ICU 55 days, median duration of rehabilitation 65 days). 10% died before V3. Anxiety decreased during rehabilitation (effect size r = 0.35, p&amp;lt;.001), but increased again until V3 (r = 0.42, p&amp;lt;.001). At V3, 54% suffered from anxiety. Depression also decreased during rehabilitation (r = 0.46, p&amp;lt;.001), and increased again until V3 (r = 0.39, p&amp;lt;.001). At V3, 44% showed depressive symptoms and 38% suffered from PTSD. COVID-19 diagnosis was associated with increased anxiety (p&amp;lt;.001), depression (p=.068), and PTSD at V3 (p=.028), compared to non-COVID-19 patients. Furthermore, longer duration of mechanical ventilation was associated with increased anxiety (p=.041) and depression (p=.019) at V3. Conclusions Mental health impairments frequently occur in critical illness survivors, and they seem to worsen after rehabilitation. As these impairments can significantly impact daily functioning and quality of life, tailored healthcare services are urgently needed. Key messages • Anxiety, depression, and PTSD are frequent in critical illness survivors, even 1 year after critical disease onset. This calls for tailored healthcare services. • Patients with COVID-19 and longer mechanical ventilation suffer from more severe mental health impairments.