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)

Addressing Delayed Hospital Discharges for Patients With Intellectual and Developmental Disabilities and a Mental Illness.

Adults with intellectual and developmental disabilities (IDD) who also have a co-occurring mental illness are almost five times as likely to experience a delayed hospital discharge as adults with mental illness only. Such delays occur when a patient no longer requires hospital-level care but cannot be discharged, often because of a lack of appropriate postdischarge settings. Delayed discharges contribute to poor patient outcomes, increased system costs, and delayed access to care. Recently, practice guidance was developed in Canada, identifying 10 components of successful transitions for this population. Core to this guidance is a patient-centered, cross-sectoral approach, including the patient, family, hospital team, community health care providers, and IDD providers.

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

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

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis.

Background: Minichromosome maintenance complex component 3 associated protein (MCM3AP) is a gene in which mutations can result in autosomal recessive peripheral neuropathy with or without impaired intellectual development. The MCM3AP genotype-phenotype correlation and prognosis remain unclear. The aim of this study was to explore the genotype-phenotype correlations pertaining to MCM3AP. Methods: Whole-exome sequencing (WES) combined with copy number variation sequencing (CNV-seq) were performed on the genomic DNA isolated from a Chinese family, and Sanger sequencing, quantitative PCR and cDNA analyses were performed to examine the mutations. The retrospective study was conducted on 28 individuals with biallelic MCM3AP mutation-related diseases, including features such as mutations, motor development impairment, intellectual disability, weakness/atrophy, and cerebral magnetic resonance imaging abnormalities. Results: Sequencing identified novel compound heterozygous mutations in MCM3AP, namely, a paternal variant c.1_5426del (loss of exons 1-25) and a maternal splicing variant c.1858 + 3A>G. Functional studies revealed that the variant c.1858 + 3A>G resulted in the heterozygous deletion of exon 5, thereby affecting splicing functionality. Furthermore, the compound heterozygous mutation may affect the functionality of the protein domain. Retrospective analysis revealed different genotype-phenotype correlations for the pathogenic variants in biallelic MCM3AP: all individuals (100%) with mutations outside the Sac3 domain exhibited early-onset symptoms, motor developmental delays, and cognitive abnormalities, conversely, the proportions of individuals carrying mutations within the domain were 26.7% (motor delays) and 46.7% (cognitive abnormalities). Conclusion: Our findings further expand the genetic mutation spectrum of biallelic MCM3AP and highlight the genotype-phenotype associations. Additionally, we elaborate on the importance of rehabilitation intervention.

Dhat Syndrome Presenting as Secondary Depression in a Patient With Mild Intellectual Disability.

Dhat syndrome is a condition in which the patient is morbidly preoccupied with excess loss of semen either from urination, nocturnal emissions, or masturbation. The anxiety surrounding this is based on the cultural and societal belief that excessive semen loss will result in illness. Here, we report a case of a 34-year-old male with intellectual disability who presented with depressive symptoms and on detailed exploration was found to have Dhat syndrome. The challenging part in this case was eliciting psychopathology and giving psychotherapy as the patient had mild intellectual disability. We treated this patient successfully with a combination of Manualised Individual Cognitive Behavioural Therapy (M-iCBT) and pharmacotherapy. This case report highlights the importance of exploring sexual history and screening for culture-bound syndromes in patients with mild intellectual disability.

Psychometric properties of two ADHD rating scales used in children with ADHD and intellectual disability.

BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is often present in people with intellectual disability (ID) and autism. However, few ADHD measures have been developed specifically for individuals with these conditions. There is little literature exploring how well ADHD measures are performing at picking up specific symptoms at the item level. METHODS: Analyses were conducted on data from 122 children aged 7-15 years old with diagnoses of both ADHD and ID enrolled in the Hyperactivity and Special Educational Needs trial. Parents and teachers completed ratings of ADHD symptoms on the Aberrant Behavior Checklist (ABC) hyperactivity subscale and the revised Conners' Rating Scales hyperactivity scale and ADHD index. Cronbach's alpha was used to examine the reliability of these measures. Item response theory explores the performance of individual items. Multiple indicators, multiple causes models were used to test for measurement invariance by ID severity, co-occurring autism traits and child age. RESULTS: The reliability of parent and teacher reports of ADHD symptoms on the Conners' and ABC was acceptable across the range of ID. Item performance was generally good, and information was provided across the continuum of ADHD traits. Few items on either measure were non-invariant (i.e., item endorsement generally did not differ based on other child characteristics). When non-invariance was found, the effect was small. CONCLUSIONS: Both the parent-reported and teacher-reported versions of the Conners' hyperactivity scale and ADHD index and the ABC hyperactivity subscale appear to function well in the current sample of children with co-occurring ADHD and ID.

Short-term and Long-term Stability of the Autism Diagnostic Observation Schedule (ADOS-2) Calibrated Comparison Scores (CCS) and Classification Scores in Youth with Down Syndrome or Fragile X Syndrome with Intellectual Disability.

Autism diagnosis in individuals with fragile X syndrome (FXS) or Down syndrome (DS) with co-occurring intellectual disability is complex since clinicians often must consider other co-occurring behavioral features. Understanding how best to assess the features of autism in individuals with these conditions is crucial. In this study, we consider the short-term and long-term psychometric consistency of the Autism Diagnostic Observation Schedule-2 (ADOS-2) calibrated comparison scores (CCSs) and ASD classifications in individuals with FXS or DS. 76 individuals with DS (39 males; Mage = 15.27) and 90 individuals with FXS (71 males; Mage = 14.52 years) completed an assessment battery (ADOS-2, abbreviated IQ assessment and semi-structured language sample) at three timepoints (initial visit, short-term stability visit, long-term stability visit). All CCSs were found to have short-and long-term consistency for both groups, with lowest reliability scores for the repetitive behaviors (RRB) CCSs. Decreased reliability of RRB CCSs was found in the DS group than the FXS group. Variable short- and long-term ASD classifications were observed in both groups, with significantly higher variability in the DS group. Across groups, participants with variable classifications had lower ADOS-2 CCSs and higher language scores than those with stable ASD classifications. In the FXS group, those with variable classifications earned higher cognitive scores than did participants with stable ASD classifications. These findings highlight the high incidence of autism symptomatology in individuals with DS or FXS and co-occurring intellectual disability, while elucidating the short- and long-term variability of symptom expression in the context of structured observational tasks such as the ADOS-2.

Good mental health in people with intellectual disabilities: a systematic review.

While mental disorders have been broadly researched in people with intellectual disabilities (ID), comparatively less attention has been given to the conceptualisation of good mental health for this population. To capture existing concepts, definitions and measurement approaches of good mental health a systematic literature review was conducted following PRISMA guidelines. The search was carried out in eleven databases, using various synonyms of (i) intellectual disability, (ii) mental health, (iii) wellbeing, (iv) definition, and (v) assessment. A total of 2,046 datasets were identified, of which 37 met the inclusion criteria and were analysed using reflexive thematic analysis and content analysis. Results show four main themes: (1) environment, (2) absence of mental illness, (3) physical health, and (4) psychosocial functioning. The fourth was the most dominant theme and was further divided into five sub-themes: (1) emotionality, (2) interpersonal relations, (3) realise own potential, (4) personal resources, and (5) overall appraisal of life. Our findings reveal different conceptualisations of wellbeing, which is a vital part of good mental health, but highlight a notable research gap in the actual definition and conceptualisation of good mental health for people with ID.

Nurses' experiences on the use of Positive Behaviour Support in the management of challenging behaviour in adults with a dual diagnosis of a mental health disorder and an intellectual disability.

INTRODUCTION: Individuals who have a dual diagnosis of both a psychiatric disorder and an intellectual disability (ID) are more likely to exhibit challenging behaviour than the general population. Clinicians globally have been encouraged to use positive approaches such as Positive Behaviour Support (PBS) when managing challenging behaviour. AIM: To explore nurses' views, opinions and perceptions on the use of positive behaviour support, as an adjunctive therapy, in the management of challenging behaviour in adults with a dual diagnosis of a mental health disorder and an intellectual disability within a mental health setting. METHOD: A descriptive qualitative study was undertaken to identify registered nurses' experiences of using PBS in managing challenging behaviour. Data were collected from ten participants via semi-structured interviews and analysed using thematic analysis. RESULTS: Two themes were constructed; 1) Being involved from the beginning and 2) Impact on adults with a dual diagnosis. DISCUSSION: Nurses' involvement from the onset was fundamental in maximising the potential of PBS. Benefits of PBS were identified. Having a meaningful relationship with clients and a good knowledge of their behaviours was integral to the success of PBS. IMPLICATIONS FOR PRACTICE: Participants emphasised the importance of continuous education around PBS. Nurses should be included in the formulation of PBS plans. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: RELEVANCE STATEMENT.

Antipsychotic medication in people with intellectual disability and schizophrenia: A 25-year updated systematic review and cross-sectional study.

OBJECTIVES: To determine the efficacy and safety of antipsychotic medication for treating individuals with a dual diagnosis of intellectual disability (ID) and schizophrenia. METHODS: We systematically reviewed the literature to explore the risks and benefits of antipsychotics for schizophrenia in ID. In addition, a cross-sectional retrospective study on the tolerance profiles of a representative ID and schizophrenia cohort was conducted. RESULTS: From the systematic search, we retained 18 articles detailing information on 24 cases. In almost all cases, the antipsychotic improved psychotic symptoms (e.g., hallucinations, delusions, disorganization). Negative manifestations were also improved (blunted affects, amotivation, poor rapport), as were challenging behaviors in a few cases. The most commonly reported side effects were neurological (extra-pyramidal, movement disorder, epilepsy) and metabolic manifestations. In the retrospective cross-sectional study, we reported data on 112 participants with comorbid ID and schizophrenia. In all, 103 participants were antipsychotic-treated, of which 39% were on antipsychotic monotherapy. Of these, 35% were in the obesity range, 25% in the hyperglycemic range, and 25% in the dyslipidemia range. The body mass index did not differ between the groups. CONCLUSIONS: This study provides an initial evidence base underpinning the efficacy of antipsychotic drugs on schizophrenia in the ID population. Nevertheless, there may be an increased risk of metabolic side effects, hence, close monitoring of blood glucose, lipids, and weight should be implemented when prescribing antipsychotics to this population.

Identification and Assessment of Undiagnosed Fetal Alcohol Spectrum Disorder: A Report of Three Cases.

Fetal alcohol spectrum disorder (FASD) and its associated physical and mental conditions is the most prevalent congenital impairment causing developmental and intellectual disability worldwide. Like alcohol abuse, FASD is typically undiagnosed by primary care providers. And like alcohol abuse, life underwriters and medical directors need to be aware of the signs, symptoms, and behaviors associated with FASD to accurately detect, identify, evaluate and assess the mortality risk. Three cases of suspected undiagnosed FASD that were underwritten for life expectancies in legal matters are discussed in this report. Not only were these patients' risks for excess mortality elevated due to their initial neurologic injury due to prenatal exposure to alcohol, but these cases demonstrate the importance of the stability and care needed to make them insurable. The following paper discusses the clinical and social settings at birth that may give underwriters and medical directors some clue to a potential case of the child having FASD and then to assess their statistical and lifestyle mortality risks.

Italian Version of QI-Disability for QoL Evaluation in Children and Adolescents with Intellectual Disability: Translation and Cross-Cultural Adaptation Process.

Children and adolescents with Intellectual Disability (ID) experience a worse Quality-of-Life (QoL) relative to typically developing peers. Thus, QoL evaluation is important for identifying support needs and improving rehabilitation effectiveness. Nevertheless, currently in Italy there are not tools with this scope. This study aims to translate and cross-culturally adapt the Quality-of-Life Inventory-Disability (QI-Disability) into Italian. The process consisted in forward-backward translation, cross-cultural adaptation and cognitive debriefing. Eventually, QI-Disability was conceptually and semantically equivalent to the original one. A validation study is necessary to make the tool available in Italian clinical practice and educational contexts to improve these children's QoL.

Perspectives of practitioners on support for caregivers of children with intellectual disability.

BACKGROUND:  Children with profound intellectual disabilities are unable to do anything for themselves and require full-time care in healthcare facilities. While caring for children, secondary caregivers become overwhelmed. Coupled with little or no support, the overwhelming work affects their psychological, social and financial well-being. Mental healthcare practitioners have perspectives on conditions under which secondary caregivers work and how can they be supported. Little is known about such perspectives. OBJECTIVES:  This study aims to explore and describe the perspectives of mental healthcare practitioners regarding the conditions under which secondary caregivers of children with profound intellectual disabilities work and how can they be supported. METHOD:  A qualitative-exploratory-descriptive and contextual research design was adopted using a non-probability purposive sampling technique. This study was conducted in Gauteng province. Semi-structured individual interviews were performed to collect data. Content data analysis and ATLAS.ti were used to analyse the data. RESULTS:  Knowledge and skills development, stress reduction, resources and motivation were themes that emerged. CONCLUSION:  This study explored and described the perspectives of mental healthcare practitioners regarding the conditions under which secondary caregivers of children with profound intellectual disabilities work and how can they be supported. If implemented, perspectives can improve the holistic well-being of secondary caregivers.Contribution: This study broadened an understanding of how secondary caregivers can be supported. Future researchers can use study results to develop programmes, intervention strategies and frameworks to support secondary caregivers.

SYNGAP-1 Mutation And Catatonia: A Case Series And Systematic Review.

Introduction: Hyperactive catatonia is often unrecognized in pediatric patients due to its clinical heterogeneity, though it is often seen in children with neurodevelopmental disabilities, especially autism spectrum disorder (ASD). Emerging evidence implicates hyperactive catatonia in more cases of self-injury and aggression in ASD than previously thought. Objectives: The study seeks to describe cases of hyperactive catatonia in SYNGAP-1 mutation and examine existing literature for symptomatic overlap between previously-described clinical and behavioral phenotypes of individuals with SYNGAP-1 mutations and catatonia. Methods: The study describes two cases of an adolescent and a young adult with SYNGAP-1 mutation and ASD presenting with hyperactive catatonia, which are the first reports of catatonia in individuals known to have a pathogenic variant in SYNGAP-1. A systematic review was undertaken during which 101 articles were screened. 13 articles were then examined for neurological and behavioral features present in participants with SYNGAP-1 mutations which are seen in catatonia. Results: The systematic review demonstrates that clinical features suggestive of catatonia are frequently seen among individuals with SYNGAP-1 mutations, including verbal impairment, psychomotor symptoms, aggression, oral aversion, and incontinence. These features were also present in the cases of catatonia in SYNGAP-1 mutations presented here. Both patients showed clinical improvement with use of a long-acting benzodiazepine, and one patient showed benefit from electroconvulsive therapy. Conclusions: This symptomatic overlap revealed in the systematic review, including symptoms seen in the reported cases, raises the possibility that diagnoses of catatonia may have been missed in the past in individuals with SYNGAP-1 mutations. Self-injurious behavior and aggression, which are hallmarks of hyperactive catatonia, are commonly part of the behavioral phenotype of SYNGAP-1-related disorders. Clinicians should consider catatonia as a cause of such symptoms in individuals with SYNGAP-1 mutations, as effective treatment can result in significant improvement in safety and quality of life.

A transporter's doom or destiny: SLC6A1 in health and disease, novel molecular targets and emerging therapeutic prospects.

As the first member of the solute carrier 6 (SLC6) protein family, the γ-aminobutyric acid (GABA) transporter 1 (GAT1, SLC6A1), plays a pivotal role in the uptake of GABA from the synaptic cleft into neurons and astrocytes. This process facilitates the subsequent storage of GABA in presynaptic vesicles. The human SLC6A1 gene is highly susceptible to missense mutations, leading to severe clinical outcomes, such as epilepsy, in the afflicted patients. The molecular mechanisms of SLC6A1-associated disorders are discerned to some degree; many SLC6A1 mutations are now known to impair protein folding, and consequently fail to reach the plasma membrane. Inherently, once inside the endoplasmic reticulum (ER), GAT1 abides by a complex cascade of events that enable efficient intracellular trafficking. This involves association with specialized molecular chaperones responsible for steering the protein folding process, oligomerization, sorting through the Golgi apparatus, and ultimately delivery to the cell surface. The entire process is subject to stringent quality control mechanisms at multiple checkpoints. While the majority of the existing loss-of-function SLC6A1 variants interfere with folding and membrane targeting, certain mutants retain abundant surface expression. In either scenario, suppressed GAT1 activity disrupts GABAergic neurotransmission, preceding the disease manifestation in individuals harboring these mutations. The nervous system is enthralling and calls for systematic, groundbreaking research efforts to dissect the precise molecular factors associated with the onset of complex neurological disorders, and uncover additional non-canonical therapeutic targets. Recent research has given hope for some of the misfolded SLC6A1 variants, which can be salvaged by small molecules, i.e., chemical and pharmacological chaperones, acting on multiple upstream targets in the secretory pathway. We here highlight the significance of pharmacochaperoning as a therapeutic strategy for the treatment of SLC6A1-related disorders.

Resolved or unresolved, that is the question: a case-study approach to discourse about abuse, trauma and maltreatment among mothers with mild intellectual disabilty.

Mary Main played a key role for this study, in which we used an idiographic approach to examine discourse about abuse, trauma, and maltreatment (ATM) among eight mothers with a mild intellectual disability (ID), whose children had been assigned a secure (the "B-group") or disorganized (the "D-group") attachment classification. Thematic analysis yielded six ATM discourse themes: openness; coherence; presence of trauma in consciousness; support; agency in response to crisis; and self-concept and caregiving self-efficacy. Mothers in the B-group provided coherent narratives, were open with the interviewer, had memories of seeking and receiving support, and reflected freely and autonomously on their experiences. Contrastingly, the mothers in the D-group expressed a guarded, closed-off stance towards ATM, difficulties seeking support, helplessness in response to crisis, and poor self-concept and -efficacy. Their adverse experiences were nonetheless highly present in consciousness, albeit in unintegrated forms. Our findings suggest that the D-group mothers may be unresolved with respect to loss/abuse.

Bridging the gap: challenges and opportunities of assistive technology loan library systems for individuals with intellectual disabilities in the United States.

PURPOSE: In an increasingly technology-driven world, this study explores the accessibility of assistive technology for individuals with intellectual disabilities through assistive technology loan libraries. Assistive technology refers to devices or systems that enhance the ability of individuals with and without disabilities to function and undertake activities of daily living. MATERIALS AND METHODS: The study, grounded in the Social Determinants of Health framework, employed multiple methods including both qualitative (interviews) and quantitative (questionnaire) methods, involving 19 participants comprising assistive technology professionals and users. RESULTS: Key findings from the study underscore the pivotal role of assistive technology loan libraries, which lend various assistive devices to individuals, enabling them to try these technologies before making a long-term commitment. However, challenges, such as a restricted variety of devices and extended waiting periods for access were highlighted. The research points to a need for improved training for both staff at the loan libraries and the users of the technology. It also suggests that policy enhancements are required to better align with rapid technological advancements and address the uneven regional distribution of these technologies. CONCLUSIONS: Participants in the study highlighted the importance of expanding the range of assistive devices available in these libraries and improving the efficiency of the service they provide. The study advocates for targeted efforts to enhance the effectiveness and accessibility of assistive technology loan libraries, highlighting their critical role in empowering individuals with intellectual disabilities.

Assistive Technology (AT) loan libraries significantly enhance access to vital technologies for individuals with intellectual disabilities, enabling trials before purchase.Challenges like limited device variety, extended wait times, and a need for improved staff training must be addressed to optimize loan libraries' effectiveness.Enhancements in policy, funding, and device availability are crucial to ensure equitable AT access and support rehabilitation goals.Collaboration between AT professionals, users, and policymakers is essential for developing responsive, user-centered AT loan library services.Strengthening awareness and education about AT options can empower users and caregivers, fostering greater independence and participation in daily activities.