Severe Intellectual Disability Research Articles

Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency in the phenylalanine hydroxylase (PAH) enzyme, leading to the accumulation of phenylalanine and its metabolites, which are toxic to the central nervous system. Without treatment, PKU can result in severe intellectual disability and neurological issues. This study aims to present the first cohort of clinically described Ecuadorian PKU patients, analyzing genotype-phenotype correlations and comparing these variants with global databases to improve diagnosis and treatment in Ecuador. Detailed clinical histories were collected, and an analysis of genotype versus phenotype (affected protein domain) of the variant was performed. Among the PAH genotypes identified, we found 15 distinct variants, with c.[754C > T](p.Arg252Trp); [754C > T](p.Arg252Trp) being the most frequent genotype (23.68%), followed by c.[1045T > C](p.Ser349Pro); [1045T > C](p.Ser349Pro) (15.79%) and c.[441 + 5G > T]; [754C > T](p.Arg252Trp) (13.16%). Additionally, several unique genotypes were identified, such as c.[140G > A](p.Ala47Val); [140G > A](p.Ala47Val) and c.[331C > T](p.Arg111Ter); [1243G > A](p.Asp415Asn), which are not commonly reported in other populations. Most genotypes were heterozygous (63.2%). The majority of variants were missense variants (66.6%) affecting the catalytic domain (53.3%). The highest phenylalanine levels were found in patients with c.[754C > T](p.Arg252Trp); [754C > T] (p.Arg252Trp) (2700 umol/L). Phenotypic data were available for 11 patients, showing 45.45% with classic PKU, 45.45% with mild hyperphenylalaninemia, and 9% with mild PKU. There was a 63.6% concordance with the BIOPKU database. Five low-frequency genotypes not reported in BIOPKU were identified, suggesting unique regional variants. Our study highlights the genetic complexity of PKU in Ecuador, with a high prevalence of unique variants not commonly found in other regions. This underscores the necessity for region-specific genetic analysis to improve PKU diagnosis and treatment. The findings emphasize the importance of tailored therapeutic strategies and continued research to enhance outcomes for PKU patients in Latin America.

Missense variant Met119Val in ACTB in a patient with Baraitser-Winter syndrome type 1 and mild intellectual disability.

Here we report on a Brazilian female patient with striking dysmorphic craniofacial features of the Baraitser-Winter syndrome (BRWS), including coarse face with prominent metopic ridge, highly arched eyebrows, ocular hypertelorism, ptosis, long palpebral fissures, broad nasal tip, long philtrum, full cheeks, cleft lip and palate, and low-set ears with abnormal lobe. Other clinical signs included partial agenesis of the corpus callosum, asymptomatic pineal cyst, oligodontia, cervical cystic hygroma, pterygium colli, axillary pterygium, duplicated left hallux and seizures. Sanger sequencing of the ACTB gene showed a heterozygous missense variation NM_001101.5 (ACTB):c.355A>G (p.Met119Val). This variant is located very close to the ACTB variant Thr120Ile, which results in the severe BRWS phenotype with severe intellectual disability and absence of speech, firstly described as Fryns-Aftimos syndrome. Despite this, our patient had mild developmental delay, without impairment of speech, and with moderated learning difficulties.

Alfacalcidol-Induced Kidney Injury in Patients with Severe Motor and Intellectual Disabilities.

Patients with severe motor and intellectual disabilities (SMID) often experience insufficient physical activity, leading to osteoporosis. The active form of vitamin D is commonly prescribed for the prevention or treatment of osteoporosis. We observed four cases of kidney injury believed to be associated with the administration of 1α-OH vitamin D (alfacalcidol) preparations. This study employed a case series design to investigate change in kidney function in SMID patients following administration or discontinuation of alfacalcidol. We retrospectively analyzed data of 23 SMID patients (sex: 10 males, 13 females; age range: 27 to 74 y), and assessed kidney function, serum calcium, and albumin levels. Data was grouped into A: 16 cases collected both before starting alfacalcidol administration and during alfacalcidol administration; and into B: 11 cases collected during alfacalcidol administration and after discontinuation of alfacalcidol administration. Of the 23 patients, four were assigned into both group A and group B. Of the 16 cases in group A, six showed ≥30% decreased kidney function. Of the 11 cases in group B, the median values of modified Cr-eGFR were 43.0 and 65.1 mL/min/1.73 m2, respectively (p=0.008), indicating a significant improvement in kidney function. It is essential for practitioners to understand that osteoporosis may ordinarily occur in SMID patients due to reduced bone stimulation. Thus caution must be exercised when administering active vitamin D preparations to this population, as they carry a risk of kidney organ damage despite having no direct effect on bone health.

Post-operative Mortality Trends for Complicated Appendicitis: Adults with and without Disabilities

Abstract Background Even for the same complicated appendicitis, the prognosis may vary if appropriate post-operative care and follow-up are not provided. We aimed to investigate the 10-year trend of complicated appendicitis mortality among disabilities and non-disabilities peoples in Korea, recognizing potential disparities in post-surgical outcomes and the importance of adequate post-operative care. Methods Patients with complicated appendicitis were classified by severity using DRG codes. Causes of death were categorized into infectious, respiratory, cardiovascular, and digestive diseases using ICD-10 data. Age-adjusted mortality rates were calculated annually from 2008 to 2017 based on disability presence, severity, and type. Factors associated complicated appendicitis mortality were analyzed using multivariate logistic regression models. Results The mortality of complicated appendicitis was 10.2 times (40.8% vs. 413.9%) higher in people with disabilities, especially those with severe disabilities. This difference was more evident in patients with a severe disability (aOR=2.12, 95% CI:1.58-2.86), intellectual or psychological disability (aOR=2.95, 95% CI:1.49-5.85) and internal organ problems (aOR=2.05, 95% CI:1.28-3.28). Conclusions Our findings suggest that insufficient post-operative care among disabled peoples, especially those with severe disabilities, internal organ problems, and intellectual or psychological disabilities, may impact outcomes. This is exacerbated by poor healthcare facilities and limited disability awareness among healthcare workers. Additionally, further research is required to uncover unexplained mortality causes. Funding: This research was supported by the National Research Foundation of Korea (NRF) grant funded by the Ministry of Education (No. 2022R1I1A3070074) and by a grant of Patient-Centered Clinical Research Coordinating Center (PACEN) funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HC23C0165). Key messages • Complicated appendicitis mortality rates show a stark 10.2-fold disparity between people with and without disabilities. • Severe disabilities, intellectual or psychological disabilities, and internal organ problems heighten the risk, emphasizing the importance of disability-inclusive healthcare practices.

4.C. Scientific session: Navigating through complex challenges of responding to outbreaks of multidrug-resistant organisms

Abstract Antimicrobial resistance is one of the top ten global public health threats according to the WHO, contributing to millions of deaths each year. While outbreaks of multidrug-resistant organisms (MDROs) are well studied in hospital and nursing home settings, knowledge gaps exist concerning the complex challenges of outbreaks of MDROs among vulnerable patient populations, such as patients with intellectual disabilities or elderly patients living longer at home with multiple comorbidities. The coordination of such outbreaks requires a multidisciplinary approach as these patients often receive care throughout different healthcare settings, including long-term care and home-based nursing care. We delve into the complexities of coordinating an MDRO outbreak response involving healthcare professionals from various healthcare settings. The challenges inherent to the coordination of multidisciplinary involvement and the use of innovative strategies for outbreak preparedness and surveillance, will be thoroughly examined based on scientific evidence and practice based experiences. Workshop objectives • To exchange experiences on managing cross-institutional outbreaks of MDROs • To foster deeper understanding of the complexities of multidisciplinary involvement during MDRO outbreaks among vulnerable patient populations The workshop structure: - A brief introduction will be provided on the generic challenges in providing long-term care to vulnerable patient populations carrying MDROs. We will subsequently illustrate potential challenges faced during a cross-institutional MDRO outbreak among these patients through a realistic scenario (5 min): A patient with severe intellectual and physical disabilities living in both a long-term care facility as well as with family at home, unexpectedly turns out to be carrying an MDRO after recent hospital admission. As the patient receives nursing care from both from family members and nursing staff in different healthcare settings, a cross-institutional MDRO outbreak has occurred requiring a coordinated response. - Hereafter, individual presenters will address evidence- and experience-based challenges faced in MDRO outbreak responses within the specific healthcare settings covered in the previously presented scenario. We will navigate through the scenario together with the participants, discussing practical and ethical dilemmas, and explore ways for containing the MDRO outbreak while maintaining effective and compassionate healthcare delivery. In addition, we will discuss the use of public health innovations, such as social network analysis as a basis for the development of a stress test exercise to improve preparedness for MDRO outbreaks, and the role of wastewater surveillance in MDRO outbreaks. Discussions will be facilitated by (online) voting tools to invite participants to exchange experiences (40 min). We conclude with an exciting quiz to summarize the key messages of this workshop (10 min). Key messages • Healthcare setting, knowledge, proportionality and well-being of vulnerable patients populations are important to acknowledge during cross-institutional MDRO outbreaks. • Novel stress test exercise and wastewater surveillance are potential methods to improve preparedness and surveillance, respectively, during cross-institutional MDRO outbreak responses.

Changes in the prevalence of intellectual disability among 10-year-old children in Sweden during 2011 through 2021: a total population study

BackgroundRecent studies have suggested an increasing prevalence of intellectual disability diagnoses in some countries. Our aim was to describe the trend in the prevalence of intellectual disability diagnoses in Sweden and explore whether associated sociodemographic and perinatal factors can explain changes in the prevalence.MethodsWe used a register-based nationwide cohort of residents in Sweden born between 2001 and 2011. We calculated the prevalence of intellectual disability diagnoses by age 10 for each birth cohort and the prevalence ratios in relation to the baseline year 2011, overall and by severity of intellectual disability, and comorbidity of autism and attention-deficit/hyperactivity disorder. The prevalence ratios were stratified and adjusted for associated sociodemographic and perinatal factors.ResultsAmong 1,096,800 individuals, 8,577 were diagnosed with intellectual disability by age 10. Among these, 3,949 (46%) and 2,768 (32%) were also diagnosed with autism and attention-deficit/hyperactivity disorder, respectively, and 4% were diagnosed with profound, 8% severe, 20% moderate, 52% mild, and 16% other/unspecific intellectual disability. The recorded age-10 prevalence of intellectual disability diagnoses increased from 0.64% (95% confidence interval 0.59–0.69%) in 2011 to 1.00% (0.94–1.06%) in 2021, corresponding to an annual prevalence ratio of 1.04 (1.04–1.05). The increase was, however, restricted to mild, moderate, and other/unspecific intellectual disability diagnoses, while the trends for profound and severe intellectual disability diagnoses were stable. The increasing trend was perhaps less pronounced among females and children with diagnosed attention-deficit/hyperactivity disorder, but independent of the co-occurrence of autism. The prevalence ratios did not change with stratification or adjustment for other associated demographic and perinatal factors.ConclusionThe recorded prevalence of diagnosed mild and moderate intellectual disability among 10-year-olds in Sweden has increased over the recent decade. This increase could not be explained by changes in associated sociodemographic or perinatal factors, including birth weight, gestational age, and parental age, migration status, and education at the child’s birth. The increase instead may be due to changes in diagnostic practices in Sweden over time.

Vision Care as A Strategy to Prevent Falls Among People with Moderate or Severe Intellectual Disability in the Hostel Setting in Hong Kong

Background: Factors contributing to the higher fall risk among people with intellectual disabilities (PIDs) are complex due to their discrete patterns of multimorbidity. Visual impairment, such as cataract, was common at old age and could be a crucial risk factor. Given the insufficient evidence regarding this relationship, the present study aimed at investigating this issue in a hostel setting in Hong Kong. Methods: This study was conducted in four hostels which served people with moderate to severe intellectual disability. Health data of residents collected in the year of 2022-23 was utilized for the current analysis. Data included fall risk, assessed by Morse Fall Scale, as well as other health conditions (osteoporosis, osteoarthritis, cataract) and demographics (age and gender) among residents. Results: The sample consisted of 199 residents (85 were males and 114 females), with an age range of 22 to 76 years. Around 40% (85; 42.7%) of them aged above 45 years old. Among the whole sample, cataract was the most common health condition and its prevalence reached 27.14%. Those who aged 45-year or above were 4.61 times (95%CI 2.09-11.07) more likely to have cataract. Bivariate analysis results showed that presence of fall risk was associated with older age (above 45 years old; OR 2.38; 95%CI 1.28-4.49), diagnosis of cataract (OR 3.3; 95%CI 1.71-6.33) and osteoarthritis (OR 12.68; 95%CI 1.70-564.75). Logistic regression analysis further illustrated that cataract (p = 0.04) remained as a significant predictor of fall risk after controlling age, gender, osteoarthritis and osteoporosis in the model. Conclusion: Our data showed that presence of cataract diagnosis was significantly associated with higher fall risk among PIDs in hostel setting. Given cataract was a prevalent condition especially among aging PIDs, early screening and intervention could be crucial components of fall prevention strategy in a hostel setting.

Association Between Gut Microbiome Composition and Physical Characteristics in Patients with Severe Motor and Intellectual Disabilities: Perspectives from Microbial Diversity.

The human gut environment undergoes substantial changes as a host ages. This investigation centered on the gut microbiome diversity among patients with severe motor and intellectual disabilities (SMID), examining the association between the gut microbiome composition and physical characteristics with varying levels of diversity. Fourteen subjects were investigated, with physical and defecation status, blood biochemical test, gut microbiome profiling, and fecal metabolites used to divide the patients into a high-diversity group (HD, eight patients) and a low-diversity group (LD, six patients). Findings indicated that the microbiome of the LD group showed delayed maturation reminiscent of neonates and lactating infants. Analysis of the fecal bile acids (BAs) revealed a markedly diminished proportion of deoxycholic acid in the secondary BAs in the LD group, suggestive of inadequate conversion from primary to secondary BAs. Furthermore, the LD group presented with loose stools. The LD group exhibited a higher degree of physical severity, with all patients bedridden and fed via gastrostomy with only enteral formula received. The composition of the gut microbiome and BAs in the LD group was found to differ from those of healthy individuals and the HD group, indicating a potentially immature gut environment for these individuals.

Enhancing daily life for children with cognitive developmental delay through insights into brain development.

Cognitive developmental delay, including severe intellectual disability (IQ below 70) and borderline intellectual functioning (IQ 70-85), poses significant challenges, including high costs and emotional burden. Early diagnosis and interventions might improve adaptive behavior and daily life functioning. High-risk groups include children with neonatal complications, congenital anomalies, genetic disorders, or metabolic errors, yet over 50% of cases have unknown causes. To provide timely diagnosis and intervention for children with cognitive developmental delay, it is important to increase our understanding and ability to prognosticate their level of functioning. The pivotal role of brain development in the first few years of life presents a window of opportunity for these goals. By detailed investigation of common patterns in structural brain development and connectivity by MRI in relation to cognitive and executive functioning, this review aims to identify potential factors that might improve understanding and prognostication of children with cognitive developmental delay. Exploring similarities among diverse patient groups with childhood cognitive developmental delay, this review intends to provide a nuanced perspective. IMPACT: This review identified several MRI brain developmental markers, especially in the white matter, that might hold potential to be a prognostic marker for intellectual and executive functioning in children with cognitive developmental delay. Bringing together information on aberrant brain developmental trajectories and connectivity across different patient childhood populations with cognitive developmental delay might improve our understanding and prognostication.

Perinatal exposure to environmental chemicals that disrupt thyroid function can perturb testis development

Thyroid hormones (THs) are essential for normal growth and development. Their role in skeletal and brain development is well established, with congenital hypothyroidism causing stunted growth and severe intellectual disability. THs are also important for the development of other tissues and organs, including the testis. Developmental hypothyroidism can manifest as smaller testes in early postnatal life that later develop into macroorchidism in adulthood due to increased proliferation of Sertoli cells. Effects of hypothyroidism on the testes can be modelled in rodents by exposing developing animals to TH-suppressing pharmaceuticals such as propylthiouracil (PTU) and methimazole (MMI). These drugs act by inhibiting the thyroperoxidase (TPO) enzyme in the thyroid gland, inhibiting the synthesis of THs. It is possible that environmental chemicals that inhibit TPO activity can also cause TH-mediated effects on the developing testis, but the extent to which this occurs is not known. Herein, we characterized the effects of perinatal exposure to the herbicide amitrole together with the antithyroid drug MMI. Pregnant Sprague-Dawley rats were exposed by oral gavage to two doses of amitrole (25 or 50 mg/kg body weight/day) or MMI (8 or 16 mg/kg body weight/day) from gestational day 7 until birth. After birth, pup exposure was continued by dosing lactating dams from day of delivery until pup day 16. Both chemicals caused a significant reduction in TH levels on day 16. This perinatal hypothyroidism disrupted both germ and Sertoli cell development, resulting in smaller testes and reduced seminiferous tubule diameter in 16-day old pups. Notably, fetal male blood progesterone levels were increased after exposure to both amitrole and MMI, whereas the amitrole-exposed animals also displayed increased estradiol levels. Our study raises concerns that exposure to environmental chemicals that happen to disrupt TH production may disrupt TH-dependent testis development, with adverse consequences to human reproductive health.

Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8

Cerebral creatine deficiency syndromes (CCDS) are rare inherited metabolic disorders caused by defective biosynthesis or transport of creatine. These conditions are characterized by reduced accumulation of creatine in the brain, mild to severe intellectual disability, global developmental delay, and speech-language disorders. The amount of brain creatine reduction needed to cause symptoms is not known. Here we report a new patient with creatine transporter deficiency (CTD) who presented at 15 months of age with seizures and global delays with no speech at 3 years of age. Brain MRI was normal, but brain MRS indicated creatine levels reduced to about 20 % of normal. He had normal levels of creatine and guanidinoacetate in plasma, but increased creatine/creatinine ratio in urine. DNA sequencing identified a hemizygous c.832C > T (p.Arg278Cys) variant in the creatine transporter gene SLC6A8. Fibroblasts from this patient had about 25 % of normal creatine transport activity, a value much higher than that measured in patients whose variants introduced premature stop codons in SLC6A8. The child was started on supplements of creatine, glycine, and arginine. His speech improved dramatically, and he had no more seizures, even during episodes of fever. Despite the clinical improvement, a repeat MRS demonstrated similar levels of brain creatine. This study suggests that a reduction in creatine transporter activity to 25 % or less is sufficient to cause symptoms of brain creatine deficiency and that functionally milder forms of CTD might respond to supplements aimed at replenishing brain creatine.

Debunking Choice and Control in Active Support: A Qualitative Analysis of Encounters in Training Videos between Staff and People with Intellectual Disability

The online learning resource ‘Every Moment has Potential’ (2015) aimed to teach direct support professionals about the values underlying active support, especially choice and control. This is unsurprising: these values anchor disability rights activism and policies. However, accompanying videos meant to illustrate choice and control offer a more nuanced story. My qualitative analysis brings in Lori Marso’s concept of freedom in the encounter to theorize four kinds of encounters in active support relationships: encounters that treat people as people; encounters that encourage surprise and spontaneity; encounters of mutual and safe touch; and challenging encounters. I aim to question critically the explicit values alongside the practices of active support. Plus, by using online YouTube videos as analysis, I hope to encourage more creative ways to include people with severe and profound intellectual disabilities in academic work, especially theoretical and philosophical work about intellectual disability.

Uncovering etiologic genes through whole exome sequencing in pediatric epilepsy: A case series from Thailand

Introduction Developmental and epileptic encephalopathy (DEE) is characterized by seizures that are difficult to control for a long time and affect development in children who are previously normal or delayed. Therefore, children with DEE should be diagnosed promptly because certain types of the disease respond well to specific medications. In developing countries with limited universal coverage for whole exome sequencing (WES), identifying key clinical features in this patient group will help us make more accurate selections for investigations. The purpose of this study was to determine the prevalence of WES and its common clinical features in children with epileptic encephalopathy. Methods Ten volunteers aged 0-15 years were diagnosed with epilepsy with two or more symptoms of drug-resistant epilepsy, developmental delays, and abnormal nervous system/or dysmorphic features, and their electroencephalogram (EEG) showed abnormal background or specific patterns of epileptiform discharges. These were subjected to WES for the standard > 400 genes in the epilepsy panel. Results The established diagnosis was 4/10. Two known pathogenic variants, SCN2A and PCDH19. Two novel pathological variants, CHD2 and SCN1A. These are drug-resistant epilepsy, which is initially difficult to control and cannot stop antiseizure medications. Out of the 2/4 had moderate to severe intellectual disability. 3/4 had generalized epileptiform discharge activities. Conclusions This study showed a similar detection rate to that of a previous WES study. All the patients had difficult-to-treat epilepsy. For those who have not found abnormalities with the same clinical symptoms, further examinations using other methods should be conducted.

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome

PurposeDespite ever-increasing knowledge of the genetic etiologies of neurodevelopmental disorders, approximately half remain undiagnosed after exome or genome sequencing. Here, we provide a deep clinical characterization of 11 previously unreported patients with a recently described neurodevelopmental disorder (NDD) due to pathogenic variants in RNU4-2. MethodsThe 11 patients were identified in a pool of 70 patients selected for targeted RNU4-2 sequencing on the basis of their clinical phenotypes from a cohort of 1032 individuals with a NDD and without a prior genetic diagnosis. ResultsThe 11 patients were aged between 13 months and 36 years. All patients showed moderate to severe developmental delay and/or intellectual disability. Height and weight were below 10th percentile and most showed microcephaly. In almost 50% of the patients, intrauterine growth retardation was detected. All patients showed a distinctive pattern of dysmorphic features, including hooded upper eyelid and epicanthus, full cheeks, tented philtrum, mouth constantly slightly open with an everted lower lip vermilion, high palate, and profuse drooling. Of 11 patients, 64% also presented with ophthalmological problems (mainly strabismus, nystagmus, and refraction errors) and 64% had musculoskeletal features (joint hypermobility, mild scoliosis, and easy fractures). ConclusionThis work provides an improved characterization of the phenotypic spectrum of RNU4-2 syndrome across different age groups and demonstrates that thorough clinical assessment of patients with an NDD can be enhanced significantly for this novel syndrome.

Specific phobias in children with moderate to severe intellectual disabilities: SPIRIT, an adaptation and feasibility study.

There is a lack of interventions for specific phobia in children and adolescents with moderate to severe intellectual disabilities. The objectives were to: (a) develop an intervention for specific phobia, together with an intervention fidelity checklist and logic model, and evaluate candidate outcome measures, together with parents/carers and clinicians; (b) describe treatment as usual; (c) model the intervention to determine the acceptability and feasibility for all stakeholders, judge the appropriateness of outcome measures, explore recruitment pathways, and examine the feasibility and acceptability of consent and associated processes; and (d) describe factors that facilitate or challenge the intervention. Phase 1a: using consensus methods, an Intervention Development Group was established who met to develop the intervention, review candidate outcome measures and contribute to the development of the intervention fidelity checklists and logic model. Phase 1b: a national online survey was conducted with parents and professionals to describe treatment as usual. Phase 2: a single-group non-randomised feasibility study was designed to model the intervention and to test intervention feasibility and acceptability, outcome measures and aspects of the research process. Phase 2: participants were recruited from National Health Service community child learning disabilities teams and special schools in England. Treatment was delivered in the child learning disabilities teams. Children aged 5-15 years with moderate to severe learning disability and specific phobia, and their parents/carers. The SPIRIT intervention comprised two half-day workshops and eight support sessions plus treatment as usual. The feasibility and acceptability of the intervention and research processes, recruitment, outcome measure completion rates and acceptability, and intervention adherence. Parents completed all of the outcome measures, with very low rates of missing data. The recruitment of sites and participants was impacted by the COVID-19 pandemic. The intervention was successfully developed and modelled with 15 participants with moderate to severe learning disabilities and their parents. The intervention was judged to be feasible and acceptable by parents/carers and therapists. Parents/carers and therapists suggested minor intervention revisions. Randomisation was not modelled within this feasibility study, although the majority of parents and therapists indicated that this would be acceptable. The SPIRIT intervention and associated study processes were judged to be feasible and acceptable. The intervention requires minor revisions. The SPIRIT intervention should be tested further within a clinical trial. Current Controlled Trials ISRCTN34766613. This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: NIHR130177) and is published in full in Health Technology Assessment; Vol. 28, No. 64. See the NIHR Funding and Awards website for further award information.

Implementation of Augmentative and Alternative Communication for People with Severe Intellectual Disabilities: Specialist Perceptions

This study aimed to identify the perceptions of specialists working with people with severe intellectual disabilities regarding the implementation of augmentative and alternative communication. A qualitative approach was used to analyse semi-structured interviews with nine specialists working with people with severe intellectual disabilities at the Comprehensive Rehabilitation Centres in Saudi Arabia. The main results indicated that all specialists had some knowledge of the use of augmentative and alternative communication methods for facilitating communication with people with severe intellectual disabilities, and a diversity of means and methods were discussed. Visual methods were the most widely used at these centres, however, while technological means were the least commonly used by specialists, despite their acknowledged importance. Near consensus also emerged among the specialists regarding the effectiveness and success of such methods in terms of communicating with people with severe intellectual disabilities. The results of the study also indicated that specialists faced numerous challenges in terms implementing augmentative and alternative communication from the people with severe intellectual disabilities themselves, as well as other specialists and centre procedures and staff. The most important proposed solutions for overcoming these challenges was the implementation of training courses to enable specialists to develop their capabilities regarding the use of more diverse methods and the implementation of augmentative and alternative communication with people with severe intellectual disabilities in a manner that allowed them to identify and select those augmentative and alternative communication methods that best align with the capabilities and needs of the relevant persons with severe intellectual disabilities.

Development and Validation of the IDS-TILDA FI; A Novel Frailty Instrument for People with Intellectual Disability

Abstract Background Adults with Intellectual Disabilities (ID) are a vulnerable population, experiencing higher rates of multimorbidity, polypharmacy and healthcare inequities. Pre-existing functional disability and dependency complicates frailty measurement in ID. This study aimed to develop an ID-specific Frailty Index (FI), and compare frailty measurements between adults with and without ID. Methods This cross-sectional study was conducted using the Intellectual Disability Supplement to The Irish Longitudinal Database of Aging (IDS-TILDA). A 31-item IDS-TILDA FI was developed. Markers of functional dependence were excluded avoid disability bias. The index was applied to 745 adults with ID, with results compared to the general population. Statistical analysis included multivariate regression on frailty controlling for age, sex, level of ID and presence of Down syndrome (DS). Multivariate logistic regression on Mortality controlling for age, Level of ID and DS was also conducted. Predictive validity was tested using receiver operating characteristic (ROC) curves and evaluated the area under the curve (AUC). Results FI scores ranged from 0.00 to 0.59; median 0.16 and mean 0.19. These scores are lower than in other studies of frailty in ID, but higher than seen in the general population. Increasing frailty score was associated with older age (p<0.05), female sex (p<0.05) and severe/profound ID (p<0.05). Increasing frailty was associated with mortality, even when controlling for age (p<0.05). This association was lost when ID severity was included in analysis. FI score demonstrated moderate predictive validity for mortality (controlling for age, sex and Level of ID) with an AUC of 0.6101 (p<0.05, 95% CI: 0.564-0.656). Conclusion It is possible to measure frailty without measuring functional dependence. Frailty is more prevalent among adults with ID compared to the general population. The IDS-TILDA FI is associated with age and mortality, though the impact of severe ID could not be overcome highlighting the complexity of medical needs for adults with ID.

Capturing Staff Perspectives on Quality Interaction With Clients With Intellectual Disability: A Diary Study.

For people with severe or profound intellectual disability (ID), support staff are important interaction partners. The quality of their interactions, a multidimensional construct, is well documented, but the staff perspective remains underexposed. This study aims to capture the behaviors, thoughts, and emotions of staff when interacting with their clients, and their views on what constitutes quality. Thirty-four support staff completed a 5-day diary about a daily interaction with a specific client. A thematic analysis was carried out. The diary entries depicted behaviors and thoughts with different foci, and emotions with positive and negative valences. The pursuit of Harmonization and the experience of Return emerged as overarching dimensions central to staff's views on quality interaction. Limitations and directions for future research are discussed.

Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study

BackgroundWith the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected. The objective of the present study was to elucidate the pathogenicity and clinical variability associated with isolated recurrent 4q35.2 microduplications within the Chinese population.MethodsThe present study involved 14 cases of isolated recurrent 4q35.2 microduplication (including 12 fetuses and 2 cases of pediatric patients) out of 5,188 subjects who sought genetic consultation at our hospital and received CMA detection. WES technology was subsequently utilized to identify additional sequence variants in a patient with multiple clinical anomalies.ResultsAll 14 cases exhibited isolated recurrent 4q35.2 microduplications spanning a 1.0-Mb region encompassing the ZFP42 gene. Among the 12 fetuses, 11 displayed normal clinical features, while one was born with renal duplication and hydronephrosis. Additionally, in the two pediatric patients, WES was performed for Case 1, who presented with congenital cataracts, severe intellectual disability, and seizures. This patient inherited the 4q35.2 microduplication from his phenotypically normal mother. WES identified a novel NM_000276:c.2042G > T (p.G681V) variant in the OCRL gene, which is associated with Lowe syndrome and may account for the observed phenotypic variability within this family.ConclusionA series of 14 cases with isolated recurrent 4q35.2 microduplications were investigated, highlighting a potential association with increased susceptibility to renal abnormalities. Further, the present findings may expand the mutation spectrum of the OCRL gene associated with Lowe syndrome and provide valuable insights for the genetic etiological diagnosis of patients with unexplained copy number variants.

Communication Partners' Perceptions of Their Roles and Responsibilities in the Design, Planning and Use of Augmentative and Alternative Communication With Individuals With Severe or Profound Intellectual Disability: A Qualitative Descriptive Study

ABSTRACTBackgroundThis study explores communication partners' perceptions of their roles and responsibilities in the design, planning and use of augmentative and alternative communication (AAC) with individuals with severe/profound intellectual disability.MethodsA qualitative descriptive approach was used. Purposive sampling, data collection and qualitative content analysis were undertaken simultaneously. Data were collected from nine participants, four parents and five professionals over 4 months through audio or video‐recorded, semi‐structured, open‐ended interviews.FindingsAn overarching theme ‘Maximising Communication through AAC’ emerged, capturing participants' unanimous agreement that their shared goal was to optimise individuals' communication through AAC. This was influenced by three themes: ‘Developing a Communicative Environment’, ‘The Act of Communicating; Attempting to Realise the Individuals' Ability’ and ‘Living with Uncertainty’.ConclusionsThese findings contribute to enhancing understanding of AAC use with individuals with severe/profound intellectual disability and their communication partners.