Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Beneficios y limitaciones de la planificación centrada en la persona en el campo de la discapacidad intelectual y del desarrollo: una revisión sistemática según las directrices de PRISMA / Benefits and limitations of person-centered planning in the field of intellectual and developmental disabilities: a systematic review according to PRISMA guidelines

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)

The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)

Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Beneficios y limitaciones de la planificación centrada en la persona en el campo de la discapacidad intelectual y del desarrollo: una revisión sistemática según las directrices de PRISMA / Benefits and limitations of person-centered planning in the field of intellectual and developmental disabilities: a systematic review according to PRISMA guidelines

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)

The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)

Rethinking the Accessibility of Hearing Assessments for Children with Developmental Disabilities.

We aim to determine the accessibility of gold-standard hearing assessments - audiogram or auditory brainstem response (ABR) - during the first 3 months of hearing health care for children with and without developmental disabilities. Electronic health records were examined from children (0-18 years) who received hearing health care at three hospitals. Children with developmental disabilities had a diagnosis of autism, cerebral palsy, Down syndrome, or intellectual disability. Assessments from the first 3 months were reviewed to determine if ≥ 1 audiogram or ABR threshold was recorded. To evaluate differences in assessment based on disability status, logistic regression models were built while accounting for age, race, ethnicity, sex, and site. Of the 131,783 children, 9.8% had developmental disabilities. Whereas 9.3% of children in the comparison group did not access a gold-standard assessment, this rate was 24.4% for children with developmental disabilities (relative risk (RR) = 3.79; p < 0.001). All subgroups were at higher risk relative to the comparison group (all p < 0.001): multiple diagnoses (RR = 13.24), intellectual disabilities (RR = 11.52), cerebral palsy (RR = 9.87), Down syndrome (RR = 6.14), and autism (RR = 2.88). Children with developmental disabilities are at high risk for suboptimal hearing evaluations that lack a gold-standard assessment. Failure to access a gold-standard assessment results in children being at risk for late or missed diagnosis for reduced hearing. Results highlight the need for (1) close monitoring of hearing by healthcare providers, and (2) advancements in testing methods and guidelines.

The contribution of environmental pollutants to the risk of autism and other neurodevelopmental disorders: a systematic review of case-control studies.

Exposure to environmental pollutants, such as metals, pesticides, and air pollutants during early life, is a risk factor for neurodevelopmental disorders (NDDs), including Autism Spectrum Disorder (ASD). Our systematic review aimed to select and summarize more recent case-control studies that examined the association between prenatal and early postnatal exposure to environmental pollutants and NDDs. We searched five databases (Web of Science, PubMed, Embase, Scopus, Ovid), screened 2,261 records, and included 24 eligible case-control studies. Meta-analyses were conducted on subgroups of at least three studies that shared both the outcome and the exposure. A noteworthy discovery from this literature review is the existence of non-linear or non-monotonic dose-response relationships between the exposure to certain metals and the risk of ASD. The meta-analysis revealed a significant association between exposure to particular matter (PM)10 during the first year of life and the risk of ASD. Overall, studies included in our systematic review indicate that exposure to several pollutants within the first three years of life was significantly associated with the risk of NDDs.

The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.

First-tier genetic investigations for patients with neurodevelopmental disorders (NDDs) may include chromosomal microarray, Fragile X testing, and screening for inherited metabolic diseases, but most remain undiagnosed upon completion of testing. Here, we report the diagnostic yields of genetic testing for 537 patients with at least one of autism spectrum disorder, global developmental delay, and/or intellectual disability. Patients were assessed in a single neurodevelopmental genetics clinic, and each underwent a standardized history and physical examination. Each patient was characterized as syndromic or nonsyndromic based on clinical features. Our results demonstrate that multigene sequencing (with an NDD gene panel or exome) had a higher diagnostic yield (8%; 95% confidence interval [CI]: 5%, 13%) than chromosomal microarray and Fragile X testing combined (4%; 95% CI: 3%, 7%). Biochemical screening for inherited metabolic diseases had a diagnostic yield of zero. The diagnostic yield of genetic testing was significantly higher for syndromic patients than for nonsyndromic patients (odds ratio [OR] 3.09; 95% CI: 1.46, 6.83) and higher for female patients than for male (OR 3.21; 95% CI: 1.52, 6.82). These results add to the growing evidence supporting a comprehensive genetic evaluation that includes both copy number analysis and sequencing of known NDD genes for patients with NDDs.

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

BACKGROUND: SINO syndrome (Spastic paraplegia, Intellectual disability, Nystagmus and Obesity) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising eight with SINO and four with an autosomal recessive condition attributed to bi-allelic KIDINS220 variants. METHODS: In our international cohort, we have comprised 14 individuals, carrying 13 novel pathogenic KIDINS220 variants in heterozygous form. We assessed clinical and molecular data of our cohort and previously reported individuals and based on functional experiments reached a better understanding of the pathogenesis behind KIDINS220-related disease. RESULTS: Using fetal tissue and in vitro assays, we demonstrate that the variants generate KIDINS220 truncated forms that mislocalize in punctate intracellular structures, with decreased levels of the full-length protein, suggesting a trans-dominant negative effect. 92% had their diagnosis within three years, with symptoms of developmental delay, spasticity, hypotonia, lack of eye contact and nystagmus. We identified a KIDINS220 variant associated with fetal hydrocephalus and show that 58% of examined individuals present brain ventricular dilatation. We extend the phenotypic spectrum of SINO syndrome to behavioral manifestations not previously highlighted. CONCLUSION: Our study provides further insights into the clinical spectrum, etiology and predicted functional impact of KIDINS220 variants.

Psychogenic non-epileptic seizures in individuals with intellectual disability/borderline cognitive function: Characterization through a comparison study.

PURPOSE: We set out to characterize psychogenic non-epileptic seizures (PNES) in individuals with either intellectual disability (ID) or borderline intellectual function (BIF) in comparison to those with normal cognitive function. We aimed to identify differences between the two groups to improve clinical management protocols. METHODS: We conducted a retrospective, observational, single-center study. The medical records of individuals (aged ≥ 14 years) diagnosed with PNES, confirmed through video-electroencephalography (vEEG) at a specialized epilepsy center between January 2008 and December 2021, were reviewed. We restricted our study to individuals who underwent comprehensive neuropsychological evaluations. Furthermore, demographic, clinical, and neuropsychological data with potential prognostic indicators, alongside the reevaluation of vEEG recordings were studied. We compared two study groups based on intelligence quotient (IQ): individuals without ID (IQ≥85; n = 25) and those with either mild ID or BIF (n = 25). RESULTS: No statistically significant clinical differences were observed between the two groups. Individuals with mild ID/BIF didn't show a longer diagnostic delay, and the prescription of inappropriate antiseizure medications (ASMs) was comparable in both cohorts. Most individuals with mild ID/BIF were treated with behavioral psychotherapeutic approaches with similar outcomes in both subgroups. CONCLUSIONS: Individuals with mild ID/BIF and PNES don't differ in clinical management. Demographic and clinical data, as well as semiology, were comparable to those of individuals with normal cognitive function. Cognitive behavioral therapy (CBT) appears to be an effective treatment approach for individuals with and without mild ID/BIF. Further studies are needed to validate and ascertain their possible applicability in individuals with moderate/severe ID.

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics. This cohort consists of 57 individuals with NF-1 microdeletion syndrome (28 type-1, 4 type-2, 2 type-3, 9 atypical deletions, and 14 indeterminate). We note 38/56 (67.9%) with describable facial features, 25/57 (43.8%) with plexiform neurofibromas, and 3/57 (5.2%) with malignant peripheral nerve sheath tumors within the observed period. The most reported neurodevelopmental manifestations from school-age or older individuals included 39/49 (79.6%) with developmental delays, 35/49 (71.4%) with expressive and/or receptive speech delays, 33/41 (80.5%) with learning difficulties, and 23/42 (54.8%) with attention-deficit/hyperactivity disorder. Full-scale IQ testing data was available for 22 individuals (range: 50-96). Of the 21 adults in this cohort, 14/21 (66.7%) graduated from high school, and 4/21 (19.0%) had some college experience. Many individuals received academic support (i.e., special education, individual education plan). In this cohort, neurocognitive outcomes in adults varied more than typically reported in the literature.

Identification of a novel METTL23 gene variant in a patient with an intellectual development disorder: a literature review and case report.

METTL23 belongs to a family of protein lysine methyltransferases that methylate non-histone proteins. Recently, the METTL23 gene has been reported to be related to an intellectual developmental disorder, autosomal recessive 44. Patients present with developmental delay, intellectual disability (ID), and variable dysmorphic features. Here, we report on a Chinese girl who presented with global developmental delay, abnormal brain structure, and multiple facial deformities, including a short/upturned nose with a sunken bridge, thin lips, and flat occiput. Whole-exome sequencing identified a novel variant (NM_001080510.5: c.322+1del) on the METTL23 gene. This variant was not collected on public human variants databases such as gnomAD, predicted to influence the splicing as a classical splicing variant, and classified as Pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Since patients with METTL23-related ID are rare, we summarize and compare the clinical phenotype of reported patients with METTL23 variants. Our report further expands the METTL23 variants and provides new evidence for clinical diagnosis of METTL23-related ID.

Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort.

OBJECTIVE: PCDH19-related epilepsy occurs predominantly in girls and is caused by pathogenic variant of the protocadherin-19 gene. The initial seizures usually develop in association with fever, begin on average at 15 months of age, and often occur in clusters. Autistic symptoms, intellectual disability, and sleep disturbance are often associated. METHODS: In our retrospective, multicenter study, we reviewed clinical data of nine children with epilepsy genetically confirmed to be associated with PCDH19. RESULTS: In the Hungarian patient population aged 0-18 years, the prevalence of PCDH19-related epilepsy was found to be lower (1/100000 live births in females) than the reported international data (4-5/100000 live births in females). Four of our nine patients had positive family history of epilepsy (cousins, sister, and mother). We assessed brain anomalies in three patients (in one patient focal cortical dysplasia and left anterior cingulate dysgenesis, and in two children right or left hippocampal sclerosis) and in another three cases incidentally identified benign alterations on brain MRI were found. The first seizure presented as a cluster in seven out of nine children. In seven out of nine cases occurred status epilepticus. Six out of nine children had autistic symptoms and only one child had normal intellectual development. Seven of our patients were seizure free with combined antiseizure medication (ASM). The most effective ASMs were levetiracetam, valproate, and clobazam. SIGNIFICANCE: The prevalence of PCDH19-related epilepsy is presumably underestimated because of the lack of widely performed molecular genetic evaluations. Molecular genetic testing including PCDH19 pathogenic variants is recommended for female patients with an onset of seizures before the age of 3 years.

Interpersonal violence against people with intellectual disabilities in São Paulo, Brazil: characteristics of victims, perpetrators and referrals.

INTRODUCTION: Interpersonal violence is a phenomenon that can occur with different people and conditions. However, people with intellectual disabilities have increased vulnerability to this problem, with potential risks to their health and well-being. The aim of this study was to identify the sociodemographic characteristics of people with disabilities who have been victims of interpersonal violence, the profile of the perpetrators and the measures taken after the victims have been cared for. METHODS: This is an exploratory, descriptive, cross-sectional study using the Interpersonal Violence Notification Forms entered into the Brazilian Ministry of Health's Notifiable Diseases Information System. The city of São Paulo was chosen as the setting because it is the largest city in Latin America and has a faster data processing system than other cities. The period covered notifications made between 2016 and 2022. The information was collected between October and November 2023 and a univariate statistical analysis was carried out. Fisher's exact test was used, with a significance level of 5% (α = 0.05). RESULTS: There were 4,603 notifications against people with intellectual disabilities in the period. The forms of physical violence, neglect/abandonment and psychological/moral violence were more frequent in the 15-19 age group, while sexual violence was more frequent in the 10-14 age group (p < 0.001). The sex most often attacked was female in all the forms investigated (p < 0.001) and the skin colors of the most victimized people were black and/or brown, except in cases of neglect/abandonment (p = 0.058). Most of the victims had little schooling (p = 0.012). The aggressions were committed by one person (p < 0.001), known or related to the victim, such as mother or father, except in cases of sexual violence, where strangers were the main perpetrators (p < 0.001). The sex of the perpetrator was male, except in cases of neglect and/or abandonment (p < 0.001), and the age was between 25 and 29 (p = 0.004). In cases of sexual violence, rape was the most frequent and the procedures carried out were blood collection followed by prophylaxis for Sexually Transmitted Infections (STIs) were the main procedures carried out by health professionals (p = 0.004). The majority of referrals made after receiving care were to the health and social assistance network, with few referrals to bodies such as the human rights reference center, guardianship council and police stations (p < 0.001). CONCLUSION: People with intellectual disabilities are highly vulnerable to the forms of violence studied, especially children and adolescents, black or brown, with low levels of education. The perpetrators are usually close people, male and older than the victims. The referrals made by health professionals did not prioritize the victim's safety and the guarantee of human rights. Lines of care for the health of victims of violence should be implemented, taking into account special aspects, such as people with intellectual disabilities, whose search for help can be difficult.

Violence against parents perpetrated by adolescent siblings of individuals with intellectual disability in South Korea.

BACKGROUND: Few studies have focused on the daily hassles among adolescent siblings living with individuals with intellectual disability (IwID) and the resulting conflicts between family members. The pathway from stress (hassles) to adolescents' violent acts has been largely ignored. OBJECTIVE: This study examined the link between hassles (independent variable) and violence against parents (dependent variable), with aggression as a mediator and social support as a moderator. PARTICIPANTS: Data were collected from November 2018 to February 2019 in Seoul, Gyeonggi Province, and Incheon City. Participants were 303 adolescent siblings of IwID (male: 47.2 %; female: 52.1 %). METHODS: Descriptive analysis was conducted using SPSS 24.0 and mediating pathways were determined using SPSS Macro 25.0. To verify the moderating role of social support, the entire sample was divided into two groups based on the mean value of social support and the mediating model was analyzed. RESULTS: In the low social support group (n = 140), the direct effect was not significant (ß = 0.0111, 95 % CI = -0.0044 to 0.0266), but the indirect effect was maintained (ß = 0.0096, 95 % CI = 0.0005 to 0.0234). However, in the high support group (n = 118), neither the direct effect (ß = 0.0106, 95 % CI = -0.0162 to 0.0373) nor the indirect effect (ß = 0.0126, 95 % CI = -0.0013 to 0.0301) was significant. Social support as a moderator was statistically significant compared with different paths in the two-group analysis. CONCLUSIONS: Counselling interventions are needed to alleviate the link between hassles and adolescent violence against parents through aggression.

Targeting epigenetic dysregulation in autism spectrum disorders.

Autism spectrum disorders (ASD) comprise a range of neurodevelopmental pathologies characterized by deficits in social interaction and repetitive behaviors, collectively affecting almost 1% of the worldwide population. Deciphering the etiology of ASD has proven challenging due to the intricate interplay of genetic and environmental factors and the variety of molecular pathways affected. Epigenomic alterations have emerged as key players in ASD etiology. Their research has led to the identification of biomarkers for diagnosis and pinpointed specific gene targets for therapeutic interventions. This review examines the role of epigenetic alterations, resulting from both genetic and environmental influences, as a central causative factor in ASD, delving into its contribution to pathogenesis and treatment strategies.

The effect of transcranial alternating current stimulation on cognitive flexibility and attention of children with intellectual disability: a case report.

BACKGROUND: Intellectual disability is a neurodevelopmental disorder characterized by significant impairments in intellectual functioning and adaptive behavior. Cognitive flexibility and attention are crucial cognitive domains often affected in children with intellectual disability. This case report explores the novel use of transcranial alternating current stimulation, a noninvasive brain stimulation technique, to enhance these cognitive functions. The study's novelty lies in its focus on alpha-wave frequency transcranial alternating current stimulation targeting specific Brodmann areas and its potential sustained impact on cognitive flexibility and attention in the pediatric population with intellectual disability. CASE PRESENTATION: The case study involved two elementary school students, both 7 years old with mild intellectual disability, one male and one female, both with Turkic ethnicity, from Shahid Fahmideh School for Exceptional Children in Khosrowshah, Iran. Both participants underwent a 2-week intervention with daily 20-minute sessions of transcranial alternating current stimulation at an alpha-wave frequency (10 Hz), targeting Brodmann areas F3 and P3. Cognitive flexibility and attention were assessed using the Wisconsin Card Sorting Test and the Clock Test, administered at four time points: pre-intervention, week 1, week 2, and 1 month post-intervention. Statistical analysis showed significant improvements in both Wisconsin Card Sorting Test and Clock Test scores for both participants compared with baseline, with sustained enhancement over time. CONCLUSION: The findings from this case report indicate that transcranial alternating current stimulation may be a promising intervention for improving cognitive flexibility and attention in children with intellectual disability. The significant and sustained improvements observed suggest that transcranial alternating current stimulation could have a meaningful clinical impact on the cognitive development of this population. However, further research is needed to confirm the efficacy of transcranial alternating current stimulation and to explore its broader applicability and long-term effects in larger, more diverse populations.

Barriers and facilitators influencing implementation of care technology for people with intellectual disabilities: A cross-sectional study among care professionals.

BACKGROUND: Implementation issues often hinder reaching the potential of care technology to improve daily lives of people with intellectual disabilities. We investigated barriers to and facilitators of implementing different technology modalities (app/social robot/sensor/domotics) in long-term care. METHOD: Care professionals (N = 83) from 12 Dutch disability care organisations completed a customised measurement instrument for determinants of innovations (MIDI) questionnaire. RESULTS: Out of 27 determinants, 20 were identified as facilitators and 16 as barriers. We highlight common barriers: few colleagues who work with the technology; no (awareness of) formal ratification of technology use; no arrangements regarding turnover of staff using the technology; unsettling organisational changes; technological defects and limited IT preconditions. CONCLUSIONS: The results, which could be combined and compared across study sites, provide insight into which implementation determinants were already well addressed, and where there is ground to gain when implementing care technology in disability care organisations.

Slow Workers: Labelling and Labouring in Britain, c. 1909-1955.

This article surveys the experiences of historical actors labelled 'mentally defective' and 'mentally handicapped' in Britain in the first half of the twentieth century. It decentres institutions and experiences of segregation, and instead foregrounds employment as a way to historicise and make visible the experiences of individuals with intellectual impairments who lived in communities. The article discusses significant opportunities for paid employment, both formal and informal, for disabled people. Periods of economic growth or recession rendered such workers visible, as did efforts to regulate labour markets and wages. The article argues that rather than 'mental age' becoming dominant in framing intellectual disability, vernacular and negotiable categories of 'wage age' predominated in workplaces to the mid-twentieth century. Intellectually disabled people adopted precarious strategies of 'getting by' and while they commonly experienced low wages, could also sustain degrees of community inclusion at the margins of the economy.

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.

NAA10-related (Ogden syndrome) and NAA15-related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of NAA10 and NAA15 variants are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic conditions (cortical visual impairment, myopia, hyperopia, strabismus, nystagmus, and astigmatism) in 67 patients with pathogenic (P) or likely pathogenic (LP) variants in the NAA10 cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with (L)P variants in the NAA15 cohort (18 de novo; 8 frameshift, 4 missense, 4 nonsense, and 1 splice site). Patients were interviewed virtually or in-person to collect a comprehensive medical history verified by medical records. These records were then analyzed to calculate the prevalence of these ophthalmic manifestations in each cohort. Analysis revealed a higher prevalence of ophthalmic conditions in our NAA10 cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences were identified in the prevalence of these conditions between the NAA10 and NAA15 variants. Our study includes novel neuroimaging of 13 NAA10 and 5 NAA15 probands, which provides no clear correlation between globe size and severity of comorbid ophthalmic disease. Finally, anecdotal evidence was compiled to underscore the importance of early ophthalmologic evaluations and therapeutic interventions.

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.

BACKGROUND: Intellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by deficits in intellectual functioning and adaptive behavior. Genetic factors contribute to the development of ID phenotypes, including mutations and structural changes in chromosomes. Pathogenic variants in the HCFC1 gene cause X-linked mental retardation syndrome, also known as Siderius type X-linked mental retardation. The MN1 gene is necessary for palate development, and mutations in this gene result in a genetic condition called CEBALID syndrome. METHODS: Exome sequencing was used to identify the disease-causing variants in two affected families, A and B, from various regions of Pakistan. Affected individuals in these two families presented ID, developmental delay, and behavioral abnormalities. The validation and co-segregation analysis of the filtered variant was carried out using Sanger sequencing. RESULTS: In an X-linked family A, a novel hemizygous missense variant (c.5705G > A; p.Ser1902Asn) in the HCFC1 gene (NM_005334.3) was identified, while in family B exome sequencing revealed a heterozygous nonsense variant (c.3680 G > A; p. Trp1227Ter) in exon-1 of the MN1 gene (NM_032581.4). Sanger sequencing confirmed the segregation of these variants with ID in each family. CONCLUSIONS: The investigation of two Pakistani families revealed pathogenic genetic variants in the HCFC1 and MN1 genes, which cause ID and expand the mutational spectrum of these genes.