Intellectual Disability Research Articles

Transferable lessons for care provided to children with intellectual and developmental disabilities based on an analysis of facilitators and barriers to SARS-CoV-2 testing

IntroductionThe purpose of this article is to report on the lessons learned from parents and caregivers of school-age children with intellectual and developmental disabilities (IDD) in Missouri and Maryland regarding the facilitators and barriers to SARS-COV-2 testing.MethodsParents participated in interview sessions that employed fuzzy cognitive mapping (FCM), a reliable knowledge-based method that facilitates democratic discourse to understand how stakeholders make decisions. A total of 94 parents from Missouri (58) and Maryland (36) participated in the FCM sessions.ResultsEight primary barriers and eight primary facilitating factors were identified that influence a successful SARS-COV-2 test. Analyzing the connections between these factors provided valuable information about not only which ideas were most central to the goal of a successful test, but also which factors could be modified to improve the likelihood of success. Results indicate that the physical environment and child preparedness play a central role in successful SARS-COV-2 testing for children with IDD; however, these factors within the context of other invasive procedures should be studied further.DiscussionIt is likely that the findings from this study are transferable to other diagnostic procedures such as influenza, respiratory syncytial virus (RSV), and methicillin-resistant Staphylococcus aureas (MRSA), which require similar testing techniques using a nasopharyngeal swab.

Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion

ABSTRACTMowat–Wilson syndrome (MWS) is a complex disorder caused by heterozygous ZEB2 gene variations creating haploinsufficiency. The main clinical features are evolving facial dysmorphism, intellectual disability, eye and brain malformations, and various organ anomalies. Our study examines 10 Turkish patients, who had clinical diagnosis, underwent evaluation, clinical investigations, and genetic tests in multiple tertiary centers across Türkiye, and were molecularly diagnosed with MWS. Molecular analysis with sequencing techniques alongside array testing unveiled disease‐causing variations in addition to novel variants, including two siblings with recurrent multiexon deletion. Clinical presentations varied, featuring neurodevelopmental delay and characteristic facial traits and organ malformations across all cases, alongside less frequently reported manifestations such as laryngomalacia or rocker bottom feet in addition to new features such as macroorchidism and osteoporosis. Our findings expand the genetic and phenotypical spectrum of MWS, and hint at potential implications of gonadal mosaicism. While establishing clear genotype–phenotype correlations poses challenges, comprehensive genetic testing remains pivotal for precise diagnosis and management. The study highlights the complexity of MWS genetics, with potential implications of gonadal mosaicism on recurrence. Further research is needed to elucidate mechanisms driving phenotypic variability, potential hotspots, and mechanisms for recurrent variations. We report on the largest cohort with MWS from Türkiye.

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay

Study protocol of an exercise and nutrition intervention for ovarian cancer patients during and after first-line chemotherapy (BENITA) - a randomized controlled trial

Abstract Background In ovarian cancer frequently reported side effects are muscle wasting and malnutrition, leading to frailty, decreased health-related quality of life (HRQoL), and cancer-related fatigue (CRF). Both often begin during first-line chemotherapy and develop progressively into a refractory state, if left untreated. Method Primary objective is to evaluate effectiveness of a newly developed app-based exercise and nutrition program under non-standardized conditions of clinical routine. We hypothize that patients who receive an individually tailored exercise and nutrition program for six months will have improved physical performance compared to patients who receive usual care. This is a multicenter randomized controlled open-label trial comparing an intervention group receiving a six-month exercise and nutrition intervention and a control group receiving usual care. Primary endpoint is the change in 6-Minute Walk Test (6MWT) from baseline to T2 (26 weeks after baseline) as a measure of physical functioning. Secondary endpoints include patients’ utilization and adherence to the nutrition program (MEDAS), their malnutrition risk (NRS2002), as well as patients’ HRQoL (see Table 1). Using the two-sample t-test with a two-sided type I error of 5% and 80% power, a medium effect size of Cohen’s d = 0.50 can be demonstrated with a minimum of 128 participants (64 per group). With a conservatively estimated dropout rate of 30%, 182 patients will be recruited. Patients who are included must be over 18 years of age, be diagnosed with ovarian cancer, cancer of fallopian tubes, or peritoneal cancer, FIGO stages II-IV, receive surgery and chemotherapy (adjuvant or neoadjuvant). Exclusion criteria are an ECOG status greater than 2, inadequate proficiency in German, or physical or mental impairments hindering the implementation of the program or execution of study procedures. Discussion In case of success, the project contributes in the long term to (i) improving medical care (diagnosis, psychoeducation, patient orientation, and empowerment), (ii) reducing the burden of disease and promoting physical autonomy for patients, and (iii) being incorporated into relevant guidelines. Trial registration The study was registered at ClinicalTrials.gov (NCT06250686).

“It’s a Circus”: Family Caregivers’ Perceptions on Accessing Mental Health Care for Individuals with Intellectual and Developmental Disabilities

“It’s a Circus”: Family Caregivers’ Perceptions on Accessing Mental Health Care for Individuals with Intellectual and Developmental Disabilities

Family quality of life of Ghanaian families raising people with intellectual disability

This study examined the family quality of life (FQOL) of people with intellectual disabilities (PWID). Participants were 176 Ghanaian parents of PWID (mothers = 71.6%). The mean age of the parents was 41.64 years (SD = 9.21 years). The parents completed the Beach Center Family Quality of Life Scale. Descriptive analysis revealed that while the parents of PWID were satisfied with overall FQOL, they were least satisfied with FQOL subdomains including disability-related support, physical/material well-being, and emotional well-being. There was evidence of variabilities within FQOL among families raising PWID. Female parents of PWID reported a higher overall FQOL than male parents. Parents who had male children with intellectual disability reported a higher overall FQOL, compared to those who had female children with intellectual disability. Our findings highlight the need for FQOL support for families of PWID and a need to develop interventions to improve different aspects of FQOL for higher family life satisfaction.

Good quality end-of life care for people with an intellectual disability: A critical interpretive synthesis protocol

People with an intellectual disability face inequality accessing healthcare that extends to end-of-life care. Furthermore, end-of-life care for people with an intellectual disability is more complex than that for the general population. This protocol sets out how our review will explore the available evidence and identify the key characteristics of care that are required for people with an intellectual disability to have a good end-of-life experience. A critical interpretive synthesis approach will be adopted, combining some elements of a systematic review with interpretive synthesis. This approach has been selected as it allows a diverse body of literature to be considered. Furthermore, it is compatible with theory generation allowing new insights to emerge in an iterative process. Electronic databases and grey literature sources will be searched using pre-defined search terms. Following initial title and abstract screening, eligible papers will undergo full text screening. Papers that are deemed to be ‘fatally flawed’ will be excluded and remaining papers appraised for relevance. Resultant papers will be included in the sampling frame from which data extraction will occur. An existing framework outlining key factors in the provision of excellent end-of-life care to people with an intellectual disability will be used to support data extraction and synthesis. Data extracted will be integrated into a synthesising argument in the form of a theoretical framework. This will identify the key characteristics in the provision of care that are required for people with an intellectual disability to have a good end-of-life experience. The developing theoretical framework will guide further selection of relevant literature to fill any conceptual gaps until saturation is reached. Our review will add to the existing body of evidence, shedding light on the key factors necessary in the provision of care to ensure that people with an intellectual disability have a good end-of-life experience.

Hypothyroidism in a Psychiatric Outpatient Population of People With Intellectual Disabilities

ABSTRACTIntroductionHypothyroidism is a chronic health condition which causes physical, cognitive and psychiatric symptoms. The prevalence of hypothyroidism in adults with intellectual disabilities is under researched.MethodHypothyroidism was examined among 463 patients within an outpatient intellectual disability psychiatric team. Clinic records were utilised for this study, including sociodemographic, psychiatric and physical health diagnoses.ResultsAmong the 463 patients, 43 (9%) had hypothyroidism. Compared to those without hypothyroidism, the hypothyroid group were significantly older, more likely to be female, and had increased rates of high cholesterol, diabetes, Down's Syndrome and dementia.DiscussionRates of hypothyroidism within this cohort of patients with intellectual disabilities were high (9%). The results suggest hypothyroidism in intellectual disability should be the focus of prospective research, in larger, more representative samples. This study indicates a need for increased awareness of, and resources for hypothyroidism in health services.

Effectiveness of a Multidisciplinary Expertise Team in the reduction of restrictive measures in sheltered care homes for people with an intellectual disability

Background: Minimizing restrictive measures is an important lever to promote self-determination for people with intellectual disabilities. Aims: This study assesses the efficacy of the Multidisciplinary Expertise Team (MDET) program in reducing such measures within Dutch sheltered care homes for people with intellectual disabilities. Methods and Procedures: A clustered randomized trial encompassed 30 residential units, reporting 428 measures on 107 residents through an organization-wide registration system. Units were randomly assigned to the MDET program or care-as-usual. Outcomes and Results: Units assigned to the MDET-program reported a significant stronger reduction in restrictive measures compared to the care-as-usual units (40% versus 20%). Conclusions and Implications: The MDET program shows promise in decreasing restrictive measures by enhancing awareness and sharing expertise across disciplines at staff and resident levels.

Etiology of Cognitive Deficits in Schizophrenia: a Review of Studies Based on Polygenic Risk Scores

Background: cognitive deficits in schizophrenia have long been believed to reflect the influence of genetic predisposition to the disease. Schizophrenia genome-wide association studies of the last decade have made it possible to test this hypothesis. The aim: to analyze studies on the relationship between cognitive impairment in schizophrenia patients and polygenic risk scores for schizophrenia (SZ-PRS). Additionally, the associations of PRS for intelligence with cognitive deficits in patients and the associations of SZ-PRS with cognitive functions in healthy people were considered. Material and methods: the literature search was carried out in the PubMed database using the following terms: (schizophr* OR schizoaffective* OR psychosis) AND (cogn* OR intelligence OR IQ) AND (GWAS OR polygenic). Results and discussion: from papers published between January 2015 and February 2024, 40 publications met the inclusion criteria. Their analysis indicate that in schizophrenia patients, in contrast to healthy people, the correlation of SZ-PRS with cognitive deficits and premorbid cognitive abilities is absent. Cognitive functions of patients are associated with PRS of intelligence, however, the bulk of the variance in cognitive deficits in schizophrenia, except for the group with intellectual disability, appears to be associated with non-genetic causes. It can be assumed that disease process factors play the most important role. Future studies should be aimed at establishing whether they are directly related to the pathophysiology of the disease, to the influence of concomitant exposures (treatment, hospitalization, etc.) or cognitive reserve, which will contribute to the correction of cognitive deficits.

Ring Chromosome 17 Syndrome—A Case Report and Discussion of Diagnostic Methods

ABSTRACTRing chromosome 17 and 17p13.3 deletion syndrome are phenotypically heterogeneous diseases with similar clinical features. The ring chromosome 17 phenotypic features range from the Miller–Dieker syndrome characterized by deletion of the PAFAH1B1 gene, lissencephaly, hypotonia, dysphagia, café au lait spots, and severe intellectual disability, to a milder phenotype characterized by microcephaly, seizures, delayed development, minor facial dysmorphic features, clinodactyly, short stature, café au lait spots, retinal flecking, and deletion of the YWHAE and CRK genes. Similarly, the phenotypic features of the 17p13.3 deletion syndrome range from the Miller–Dieker syndrome caused by loss of function of the PAFAH1B1 gene and characterized by lissencephaly, microcephaly, seizures, hypotonia, and severe intellectual disability to a milder phenotype characterized by nonspecific white matter changes, microcephaly, seizures, delayed development, short stature, and deletion of the YWHAE and CRK genes. Café au lait spots and retinal or axillary freckling have been noted in the ring chromosome 17 syndrome but not in 17p13.3 deletion syndrome. We report a 5‐year‐old girl with a history of intrauterine growth retardation, short stature, intractable epilepsy, expressive language disorder, clinodactyly, multiple café au lait spots, and retinal freckling who was initially diagnosed with 17p13.3 deletion syndrome involving YWHAE and CRK but not PAFAH1B1 on CGH array. However, cytogenetic analysis of G‐banded chromosomes revealed mosaic ring chromosome 17. Optical genome mapping simultaneously identified the 17p13.3 deletion and the mosaic ring chromosome 17. This case report highlights the limitations of the arrays and sequencing methods for identifying structural variants, the need to investigate further deletions and duplications identified by arrays, mainly considering atypical phenotypic features, and suggests that OGM could be used as a first‐tier test with exome sequencing for the diagnosis of patients with dysmorphic features, intellectual disability, and seizure disorder.

A Review of Sturge–Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways

Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous disorder typically caused by a somatic mosaic mutation in R183Q GNAQ. At-risk children present at birth with a capillary malformation port-wine birthmark. The primary diagnostic characteristic of the disorder includes leptomeningeal enhancement of the brain, which demonstrates abnormal blood vessels and results in impaired venous drainage and impaired local cerebral perfusion. Impaired cerebral blood flow is complicated by seizures resulting in strokes, hemiparesis and visual field deficits, hormonal deficiencies, behavioral impairments, and intellectual disability. Therefore, anti-seizure medication in combination with low-dose aspirin is a common therapeutic treatment strategy. Recently published data indicate that the underlying mutation in endothelial cells results in the hyperactivation of downstream pathways and impairment of the blood–brain barrier. Cannabidiol (CBD) has been used to treat medically refractory seizures in SWS due to its anti-seizure, anti-inflammatory, and neuroprotective properties. Pilot research suggests that CBD improves cognitive impairment, emotional regulation, and quality of life in patients with SWS. Recent preclinical studies also suggest overlapping molecular pathways in SWS and in CBD, suggesting that CBD may be uniquely effective for SWS brain involvement. This review aims to summarize early data on CBD’s efficacy for preventing and treating epilepsy and neuro-cognitive impairments in patients with SWS, likely molecular pathways impacted, and provide insights for future translational research to improve clinical treatment for patients with SWS.

Clinical characteristics of patients with P4HTM variant-associated epilepsy and therapeutic exploration: a case report and literature review

The P4HTM gene encodes a transmembrane prolyl 4-hydroxylase, which is responsible for the degradation of hypoxia-inducible transcription factors (HIF) under normoxia. Clinically, biallelic P4HTM variants have been identified in patients with hypotonia, hypoventilation, intellectual disabilities, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). Seizure was one of the most prominent symptoms. However, the clinical features of patients with epilepsy associated with P4HTM variants remain unclear. In this report, we describe a one-month-old infant with HIDEA syndrome caused by compound heterozygous P4HTM variants (c.300dupG/p.Gly103Argfs*22 and c.488C > T/p.Ala163Val). The infant presented with clonic seizures of focal onset that responded well to valproate, but with profound intellectual disability and global developmental delay at the last follow-up at 3 years old. A review of the existing literature indicates that seizures in this population typically begin early in infancy, manifest in multiple types, and are relatively well controlled. Epilepsy seemed unrelated to developmental outcomes or disease progression. Valproate, which has HIF-1α inhibiting properties, may be a promising treatment avenue for this population.

Correction: Ventilation during COVID-19 in a school for students with intellectual and developmental disabilities (IDD)

Correction: Ventilation during COVID-19 in a school for students with intellectual and developmental disabilities (IDD)

Eating and feeding disorders in adults with intellectual developmental disorder with and without autism spectrum disorder.

The present observational cross-sectional study aimed at investigating the prevalence of feeding and eating disorders (FEEDs) in adults with intellectual disability (ID)/intellectual developmental disorder (IDD) with or without autism spectrum disorder (ASD) and specific problem behaviours (PBs). Two hundred six adults with ID/IDD consecutively attending residential and rehabilitative facilities, 59.2% of which had co-occurring ASD, were assessed for presence of FEEDs by a structured interview specifically developed for the study and Diagnostic Manual - Intellectual Disability criteria. The 4.3% of the sample fully met the diagnostic criteria for anorexia nervosa, 6.7% for bulimia nervosa (BN) and 22.8% for binge eating disorder (BED). Furthermore, at least one observable symptom of these disorders was found in higher percentages of the sample. A higher prevalence of FEEDs was found in ID/IDD plus ASD than in ID/IDD alone. PBs were also significantly higher in participants with co-occurring ASD and had a positive correlation with the number of FEED symptoms, especially for BN and BED. The study enriches previous literature and considers novel aspects such as the behavioural/observable presentation of symptoms as well as the association with ASD and PBs. These issues deserve a specific consideration within standard psychiatric assessment and future research, especially in persons with major communication and/or cognitive difficulties.

Research-Education Partnerships: A Co-Design Classroom for College Students with Intellectual and Developmental Disabilities

Co-design of technology encourages participation and decision-making input of end-users. In the case of technologies for individuals with Intellectual and Developmental Disabilities (IDD), the end-users are historically left out of the design process. Further deepening the disconnect between this group and technology, they are also excluded from formal technology design knowledge sharing, such as college courses. To address this, our study investigates the efficacy of a formal classroom adaptation of co-design activities to encourage learning and participation. Through collaboration between educators and designers, we adopted user-centered co-design activities to facilitate knowledge and application of technological design methods within a class of 13 students with IDD. Findings uncovered factors contributing to co-teaching collaboration planning and reflection between educators and designers, and ways that activities can provide accessible collaborative learning environments for students with IDD by supporting collaboration, cognitive engagement, and meta-cognition. We discuss how these factors can support successful co-teacher collaborations that promote student empowerment. Finally, we contribute collaborative co-teaching strategies for educational co-design activities for individuals with IDD.

"Gobak Sodor", Indonesian Traditional Game to Improve Agility of Children with Disabilities

The traditional game of gobak sodor is a small game whose rules can be simplified according to the conditions of the players. Agility is very important for students with disabilities as it improves their physical abilities and social interactions. The purpose of this study was to determine the effect of traditional gobak sodor games on improving the agility of students with disabilities. This research adopts a quantitative with experimental methods. The experimental design applied in this research is PreExperimental Design with one group pretest-posttest model. The intervention was conducted 16 times within 2 months. The samples of this study were 20 students with intellectual disabilities from grades 4, 5, and 6 of State Special School (SLB). The measuring instrument used to collect data in this study is an agility test, which is measured by a 4 x 10 metre alternating running test (Shuttle run) for students with disabilities. The data obtained were statistically analysed using the t-test formula. Based on the calculation of the t-test that has been carried out, it is obtained that Tscore is worth 2.239173 and Ttable is worth 1.832937. So it can be concluded that there is an effect of "Gobak Sodor", a traditional Indonesian game to improve the agility of children with disabilities State Special School (SLB) of Wiradesa, Pekalongan Regency. Based on the results of the study between the pretest and posttest, there was an increase in the agility test results of students with disabilities at the State Special School (SLB) of Wiradesa.

Music therapy improves engagement and initiation for autistic children with mild intellectual disabilities: A randomized controlled study.

This study aimed to evaluate the effectiveness of music therapy (MT) for children with co-occurring autism spectrum disorder (ASD) and intellectual disabilities (ID) and explore whether pre-intervention quantitative electroencephalogram (qEEG) responses can predict outcomes. A randomized controlled trial was conducted with 33 children receiving MT and 34 receiving an active control therapy. Participants received either MT or a non-musical social skills intervention for 45 min weekly over 12 weeks. Primary outcomes were measured using the Childhood Autism Rating Scale (CARS-2), along with the parent-rated Social Responsiveness Scale (SRS-2) and video coding of social behaviors. Both conditions significantly improved in CARS-2 scores at 2 weeks and 4 months post-intervention, with no differences between MT and control conditions. No changes were found in SRS-2 scores. While both conditions showed reduced disengagement after intervention, only the MT condition showed increased engagement and initiation. Strong qEEG responses to social scenes and music predicted increased initiation, indicating its potential to help tailor interventions. These results support incorporating MT into standard services and further research on qEEG predictors.

Urinary Tract Infections Amongst Adults With Intellectual Disabilities With Urinary Incontinence

Urinary Tract Infections Amongst Adults With Intellectual Disabilities With Urinary Incontinence

EXPLOITING OPTIMAL SELF-ATTENTION DEEP LEARNING-BASED RECOGNITION OF TEXTUAL EMOTIONS FOR DISABLED PERSONS

A disability is a significant issue that has posed and continues to pose a challenge. Disability is a basis of frustration because it can be observed as a mental, constraint, cognitive, and physical handicap that inhibits the individual’s growth and involvement. Consequently, significant effort has been put into removing these kinds of restrictions. These initiatives address the trouble that disabled people encounter. People with disabilities often need to rely on others to meet their requirements. Machine learning (ML) is excelling in producing smart cities and offering a secure environment for disabled individuals. Emotional detection is an important research domain that can expose many appreciated inputs. Emotion is expressed differently through speech and facial expressions, gestures, and written text. Emotion detection in a text document is fundamentally a content-based classification task, utilizing models from deep learning (DL), complex systems and natural language processing (NLP). This paper presents an Optimal Self-Attention DL-based Recognition of Textual Emotions (OSADL-RTE) technique for Disabled Persons. The presented OSADL-RTE technique focuses on identifying distinct types of emotions in the textual data. As a primary preprocessing step, the OSADL-RTE technique comprises different phases to transform the input in a useful way. For word embedding, the bag of words (BoWs) approach is exploited. The OSADL-RTE technique derives self-attention long short-term memory (SA-LSTM) approach to identify emotions. Lastly, the arithmetic fractals optimization algorithm (AOA) approach correctly tunes the hyperparameter selection of the SA-LSTM approach. The experimental study of the OSADL-RTE approach occurs on the emotion database. The investigational outcome of the OSADL-RTE approach portrayed a superior accuracy outcome of 99.59% over existing methods.