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)

Impact of family-centered care in families with children with intellectual disability: A systematic review.

Background: Family-Centered Care (FCC) is an approach to healthcare planning, delivery and evaluation, based on beneficial partnerships between health professionals, patients and families. FCC may be particularly relevant for families with children with intellectual disability (ID), given their needs of continuum care. Objective: To identify which components of the FCC are practiced and which health outcomes are considered effective in families with children with ID. Method: A systematic review guided by the PRISMA STATEMENT 2020 approach and the STROBE reporting guidelines was performed on specific databases through the EBSCOhost Web platform: MEDLINE with Full Text, CINAHL PLUS with Full Text, Academic Search Complete and Psychology and Behavioral Sciences Collection. Peer-reviewed articles published in English or Portuguese languages from 2018 to September 2023 were retrieved. Methodological quality was established using the Quality Assessment Tool for Observational, Cohort and Cross-Sectional Studies - NHLBI, NIH. Results: Ten studies met the eligibility criteria and were synthetized. The results revealed nine components, reflecting the way FCC was developed: shared decision-making; family education; respect for culture; family engagement; recognition of the family's needs, characteristics and interests; specialized care support; social and emotional support; family functionality; and family seen as a unit. The health outcomes demonstrate effective gains in improving children's health through family satisfaction with health services. Also achieved psychological and social benefits, with improved family well-being and quality of life, favoring family empowerment. Conclusions: The evidence suggests that FCC components involves an effective partnership between the family and health professionals as the main key in developing care plans, as well as the experience that the family unit brings to the delivery of care. FCC approach include all family members as decision-makers, providing emotional, physical and instrumental levels of support. Health outcomes emerged in three strands; for children with ID, families and health services.

'They don't think I can do it': Experiences of self-advocates, employment specialists, and employers on employment of adults with intellectual disability.

BACKGROUND: A multi-phase Canadian study was conducted as part of a large-scale community and academic research partnership focused on understanding and improving the employment experiences of people with intellectual disabilities. METHOD: This multi-method study utilized a sequential approach, using findings from qualitative interviews (n = 28) to inform an online survey (n = 149). Participants were invited to share their experiences with paid employment or with persons with intellectual disabilities. RESULTS: Thematic analysis of data across interview and survey findings resulted in six themes: (1) assumptions and attitudes, (2) knowledge and awareness, (3) accessibility of processes, (4) use of accommodations, (5) workplace relationships, and (6) supports and resources. CONCLUSIONS: A holistic and systemic approach has the potential to improve inclusive employment experiences of people with intellectual disabilities. Action is needed mainly at the policy and employer level to reduce barriers and improve on facilitating measures reinforced by the themes shared in this study.

Comparing fine motor performance among young children with autism spectrum disorder, intellectual disability, attention-deficit/hyperactivity disorder, and specific developmental disorder of motor function.

Objective: The acquisition of fine motor skills is considered to be a crucial developmental milestone throughout early childhood. This study aimed to investigate the fine motor performance of young children with different disability diagnoses. Methods: We enrolled a sample of 1,897 young children under the age of 6 years who were at risk of developmental delays and were identified by a transdisciplinary team. A series of standardized developmental assessments included the Bayley Scales of Infant Development-Third Edition, Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition, Peabody Developmental Motor Scale-Second Edition, and Movement Assessment Battery for Children-Second Edition were used. Retrospective chart reviews were conducted on all children to identify specific developmental disorders. The number of autism spectrum disorder (ASD), intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), comorbidity, motor dysfunction, and unspecified developmental delays (DD) were 363 (19.1%), 223 (11.8%), 234 (12.3%), 285 (15.0%), 128 (6.7%), and 590 (31.1%), respectively. Results: Young children with ID, comorbidity, and motor dysfunction demonstrated significant difficulty in performing manual dexterity and visual motor integration tasks and scored significantly lower in these areas than children with ASD, ADHD, and unspecified DD. In addition, fine motor performance was associated with cognitive ability in children with different disability diagnoses, indicating that young children showed better fine motor performance when they demonstrated better cognitive ability. Conclusion: Our findings support that differences in fine motor performance differ by disability type. Close links between fine motor performance and cognitive ability in children under the age of 6 years were seen in all disability types.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Xq28 int22h-1/int22h-2 duplication is the result of non-allelic homologous recombination between int22h-1/int22h-2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID, whereas all reported evaluated born males present mild to moderate ID, suggesting complete penetrance. We collected data on 15 families from eight university hospitals. Among them, 40 patients, 21 females (one fetus), and 19 males (two fetuses), were carriers of typical or atypical Xq28 int22h-1/int22h-2 duplication. Twenty-one individuals were considered asymptomatic (16 females and 5 males), without significantly higher rate of recurrent infections, atopia, overweight, or facial dysmorphism. Approximately 67% live-born males and 23% live-born female carriers of the typical duplication did not have obvious signs of intellectual disability, suggesting previously undescribed incomplete penetrance or low expression in certain carriers. The possibility of a second-hit or modifying factors to this possible susceptibility locus is yet to be studied but a possible observational bias should be considered in assessing such challenging X-chromosome copy number gains. Additional segregation studies should help to quantify this newly described incomplete penetrance.

SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.

The clinical and genetic characteristics of SYNGAP1 mutations in Korean pediatric patients are not well understood. We retrospectively analyzed 13 individuals with SYNGAP1 mutations from a longitudinal aspect. Clinical data, genetic profiles, and electroencephalography (EEG) patterns were examined. Genotypic analyses included gene panels and whole-exome sequencing. All patients exhibited global developmental delay from early infancy, with motor development eventually reaching independent ambulation by 3 years of age. Language developmental delay varied significantly from nonverbal to simple sentences, which plateaued in all patients. Patients with the best language outcomes typically managed 2-3-word sentences, corresponding to a developmental age of 2-3 years. Epilepsy developed in 77% of patients, with onset consistently following developmental delays at a median age of 31 months. Longitudinal EEG data revealed a shift from occipital to frontal epileptiform discharges with age, suggesting a correlation with synaptic maturation. These findings suggest that the critical developmental plateau occurs between the ages of 2 and 5 years and is potentially influenced by epilepsy. By analyzing longitudinal data, our study contributes to a deeper understanding of SYNGAP1-related DEE, provides potential EEG biomarkers, and underlines the importance of early diagnosis and intervention to address this complex disorder.

Validation of the Arabic Version of Feeding Handicap Index for Children with Developmental Disabilities (A-FHI-C).

Children with developmental disabilities have different feeding and swallowing problems. The purposes of the present study were to develop an Arabic version of the FHI-C and to evaluate its validity, consistency, and reliability in Arabic children with developmental disabilities for assessing how feeding and swallowing problems impair the physical, functional, and emotional aspects of children's lives. A prospective study including 113 children [62 children with autism spectrum disorder (ASD), 24 with cerebral palsy (CP), 27 with intellectual disability (ID)], in the age range of 2 to 10 years, selected randomly from the swallowing clinic, phoniatrics unit, Otorhinolaryngology department, University hospital between September 2023 and December 2023 complaining of feeding and swallowing problems. Validity was established by comparing patients` scores to typically developed controls (31 children). For test-retest reliability, forty parents filled out the A-FHI-C again two weeks after their initial visit. Cronbach's alpha for A-FHI-C was 0.986, indicating good internal consistency. Intraclass correlation showed 0.850 with a 95% confidence interval from 0.779 to 0.898. All three clinical groups had significantly higher total FHI-C and FHI-C domain scores than the control group, indicating good validation. A-FHI-C was found to have significantly high test-retest reliability. The current study indicates that in children with ASD, CP, ID, feeding problems are more prevalent than children who are typically developed. The scores obtained can be used by phoniatricans to evaluate feeding problems and monitor the progress of the therapy plan in children with developmental disorders.

A Systematic review of the presence and participation of students with intellectual disabilities in Spanish universities.

Inclusive education remains a challenge to be embraced by the national educational system, and this challenge becomes even more pronounced when considering the access and participation of young individuals with intellectual disabilities (ID) in higher education. The present systematic review aims to delve into the scientific literature addressing the theme of the presence of students with ID in Spanish university classrooms. To achieve this, a thorough examination of 34 scientific articles published between 2012 and 2022 was conducted across the databases of Dialnet, RedALyC, SCOPUS, Web of Science, and Google Scholar. Through the analysis of the selected studies, a research trend regarding the inclusion of students with ID in Spanish universities is identified, and the results are summarized. These results indicate a disparity between the increasing response of Spanish universities to students with ID and the limited production of scientific literature on the subject. The review concludes by emphasizing the need to promote high-quality inclusive research processes within the university environment, with a focus on accessibility and equal opportunities for young individuals with ID in higher education.

Neurocognitive and psycho-emotional profile of children with disabilities.

OBJECTIVE: Neurocognitive deficits in attention, short-term memory, and sequential information processing are present in children with a variety of disabilities, whereas language and visuospatial abilities vary. METHOD: We compared the performance of 59 children (mean age, 15 years) with learning disabilities (n = 18), Down syndrome (n = 21), and intellectual disabilities (n = 20). A series of neuropsychological tests were used to evaluate the neurocognitive processes of memory, attention, visuospatial perception, and executive function. To better understand what emotions they experience, we assessed emotions like anxiety, depression, and positive and negative mood. RESULTS: The performance of children with Down syndrome was statistically significantly different from that of other groups, indicating lower performance (p = 0.001). In comparison to other groups, children with Down syndrome performed significantly worse across all cognitive domains. Additionally, there were no statistically significant differences between groups and low emotional functioning scores across the board for all children. People with DS frequently have distinctive neurocognitive and neurobehavioral profiles that appear during particular developmental phases and have many distinct strengths and weaknesses that should be respected as they mature over the course of their lives. The current findings have substantial consequences for interventions that are focused on achieving the best results.

Examining sedentary behaviours of adults with intellectual disabilities: A qualitative analysis.

Sedentary behaviours among adults with intellectual disabilities have not been well studied. A sedentary lifestyle puts adults with and without disabilities at high risk of developing health conditions and diseases. Current literature revealed few empirical studies on the benefits of reducing sedentary behaviours with respect to the health of adults with intellectual disabilities. This research explored the factors that helped or hindered sedentary behaviours of adults with intellectual disabilities in the Canadian population. Guided by the socio-ecological model, Critical Incident Technique (CIT) was conducted. Five adults with intellectual disabilities from the Province of Ontario were interviewed and 102 critical incidents were collected. Adults with intellectual disabilities identified personal and environmental related factors that led to increased sedentary behaviours; and revealed helpful factors and wish-lists of actions that decreased sedentary lifestyle. Findings may be useful when developing programs aimed to decrease prolonged periods of sedentary behaviours specific to this vulnerable population.

Disability day programs for people with intellectual disability: Characteristics and long-term perspectives.

There is limited knowledge regarding people with intellectual disability and their occupations in Sweden. The aim of the study was to examine young adults with intellectual disability who after secondary school participate in disability day programs (daily activity), with a focus on characteristics and longitudinal analyses of movements between occupations. The study used a national register of 26,908 people with intellectual disability, of which 13,128 individuals (48.8%) participated in daily activity. The group had slightly more men than women, many had attended individual programs in school, and significant associations were found between background factors and participating in daily activity. Proportions in daily activity remained stable over time; however, some individuals transitioned to employment or no known occupation. The study presents national and longitudinal understanding, highlighting the dominance of daily activity as an occupation. Further research is needed to increase knowledge on meaningful occupations for people with intellectual disability.

Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.

CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 encodes the vesicular 2Cl-/H+ exchanger ClC-4, and CLCN4 pathogenic variants frequently result in altered ClC-4 transport activity. The precise cellular and molecular function of ClC-4 remains unknown; however, together with ClC-3, ClC-4 is thought to have a role in the ion homeostasis of endosomes and intracellular trafficking. We reviewed our research database for patients with CLCN4 variants and epilepsy, and performed thorough phenotyping. We examined the functional properties of the variants in mammalian cells using patch-clamp electrophysiology, protein biochemistry, and confocal fluorescence microscopy. Three male patients with developmental and epileptic encephalopathy were identified, with differing phenotypes. Patients #1 and #2 had normal growth parameters and normal-appearing brains on MRI, while patient #3 had microcephaly, microsomia, complete agenesis of the corpus callosum and cerebellar and brainstem hypoplasia. The p.(Gly342Arg) variant of patient #1 significantly impaired ClC-4's heterodimerization capability with ClC-3 and suppressed anion currents. The p.(Ile549Leu) variant of patient #2 and p.(Asp89Asn) variant of patient #3 both shift the voltage dependency of transport activation by 20 mV to more hyperpolarizing potentials, relative to the wild-type, with p.(Asp89Asn) favouring higher transport activity. We concluded that p.(Gly342Arg) carried by patient #1 and the p.(Ile549Leu) expressed by patient #2 impair ClC-4 transport function, while the p.(Asp89Asn) variant results in a gain-of-transport function; all three variants result in epilepsy and global developmental impairment, but with differences in epilepsy presentation, growth parameters, and presence or absence of brain malformations.

Embracing authenticity and challenging norms: Including people with an intellectual disability as lecturers in third level intellectual disability nursing programmes.

UNDERREPRESENTATION OF VOICES FROM PEOPLE WITH INTELLECTUAL DISABILITY IN NURSE EDUCATION: In the Republic of Ireland and the United Kingdom, university level programmes for intellectual disability nurses have traditionally incorporated the perspectives of people with intellectual disabilities but have been delivered by non-disabled educators. Perspectives are interpreted through the lens of the non-disabled person, with the voices of people with intellectual disabilities rarely heard. AN ALTERNATIVE APPROACH: INCLUDING PEOPLE WITH INTELLECTUAL DISABILITY AS EDUCATORS: In this article, an alternative approach is proposed that addresses this problem by including individuals with intellectual disabilities as educators within university programmes. Such inclusion will benefit students, academics, and ultimately the individuals who will receive health and social care from these nurses. Many countries have seen legislative and policy changes promoting inclusion for people with an intellectual disability. These are welcomed, but if they are to have a meaningful impact, societal attitudes and perceptions towards people with intellectual disabilities must be challenged. Drawing upon the concepts of social reconstruction and the ideologies of Paulo Freire and John Dewey, we argue that education can catalyze societal transformation. By including individuals with intellectual disabilities as educators in undergraduate programmes, such as nursing, traditional hierarchies of educators can be challenged, and students can learn from experts with lived experiences. This approach fosters critical thinking, reflection, and the development of authentic and informed healthcare professionals. The experiences of a co-author with a lived experience of intellectual disability as an educator, highlights the positive impact of such inclusion on students' perspectives, understanding, and empathy.

[Points de vue d'adultes vieillissants ayant une déficience intellectuelle à l'égard de leur participation sociale].

Au cours du vieillissement, les adultes ayant une déficience intellectuelle (DI) vivent de nombreux changements susceptibles d'influencer leurs possibilités d'exercer leurs activités quotidiennes et leurs rôles sociaux. Une bonne connaissance de leurs points de vue sur le sujet apparaît cruciale pour mieux adapter l'offre de services à leurs besoins. Cette recherche a pour but de mieux comprendre les points de vue des personnes ayant une DI à l'égard de leurs possibilités de participation sociale à travers l'avancée en âge. Des entrevues individuelles et un atelier participatif ont été réalisés avec des adultes âgés de 40 à 75 ans dans la ville de Québec. L'analyse de leurs propos a permis d'identifier leurs points de vue relatifs à trois thèmes, soit leurs capacités, les possibilités d'exercer leur participation sociale et les soutiens reçus. Pour conclure, des recommandations sont proposées afin que les pratiques soutiennent réellement leur participation sociale à travers l'avancée en âge.

Editorial on common mental health disorders and cognitive decline in a longitudinal Down syndrome cohort.

This editorial discusses a study by Idris and colleagues, where the authors investigated the impact of common mental disorders (CMDs) among patients with Down syndrome, with respect to development of clinical features of Alzheimer's disease.

[Non-therapeutic hysterectomy in Mexican young females with intellectual disability: a problematized reality]. / Histerectomía no terapéutica en jóvenes mexicanas con discapacidad intelectual: una realidad problematizada.

Background: Non-therapeutic hysterectomy in girls and adolescents with intellectual disability (ID) is an acceptable practice, even when there is a lack of prescriptive ethical reason. Objectives: To determine the magnitude of the practice of hysterectomy in girls and adolescents with ID, and explore the emic factors associated with this procedure. Material and methods: Multicenter, intersectoral study with a mixed methods design. Results: The quantitative results showed that 50 of 234 reported hysterectomies corresponded to females with ID. Average age at the time of surgery was 15 ± 2.9 years. Prophylactic abdominal hysterectomy was the most common procedure, and the justifications for it were "fertility control", "menstrual hygiene management", and "risk of sexual abuse". A qualitative analysis of 15 focus groups revealed that parents' main concern was how to manage their daughters' index disease and reproductive health; they perceived menstruation positively; they expressed their fear of dying and leaving them without support, and emphasized fertility control; none of them approved hysterectomy. Conclusions: The bodies that define health policies need to create a new philosophy that avoids the reductionist approach of current biomedical model, which separates (in the health-disease process) our interdependence with other humans.

Antecedentes: La histerectomía no terapéutica en niñas y adolescentes con discapacidad intelectual (DI) es una práctica aceptable, aun cuando se carece de razón ética prescriptiva. Objetivos: Determinar la magnitud de la práctica de la histerectomía en niñas y adolescentes con DI, y explorar los factores emic asociados a esta práctica. Material y métodos: Estudio multicéntrico e intersectorial con método mixto. Resultados: Los resultados cuantitativos mostraron que 50 de 234 histerectomías reportadas correspondieron a mujeres con DI. El promedio de edad a la cirugía fue de 15 ± 2.9 años. La histerectomía abdominal profiláctica fue el procedimiento predominante y las justificaciones fueron control de fertilidad, manejo de la higiene menstrual y riesgo de abuso sexual. El análisis cualitativo de 15 grupos focales reveló que la principal preocupación de los padres fue cómo manejar la enfermedad índice y la salud reproductiva de sus hijas; percibieron positivamente la menstruación, expresaron su miedo a morir y dejarlas sin ayuda, resaltaron el control de la fertilidad y ninguno aprobó la histerectomía. Conclusiones: Los organismos que definen políticas de salud necesitan crear una nueva filosofía que evite el enfoque reduccionista del actual modelo biomédico, el cual separa (en el proceso salud-enfermedad) la interdependencia entre los seres humanos.

Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development.

Introduction: SETBP1 gene variants that decrease or eliminate protein activity have been associated with phenotypes characterized by speech apraxia and intellectual disabilities. This condition, distinctly separated from Schinzel-Giedion syndrome, is referred to as autosomal dominant mental retardation 29 (ADR29). Case Presentation: In this report, we present the case of a 6-year-old male patient exhibiting fine and global motor skill impairments along with expressive language delay. The patient carried a novel germline, heterozygous, de novo nonsense variant in the SETBP1 gene, specifically the c.532C>T variant, which prematurely terminates protein translation at amino acid 178, p.(Gln178*), and removes more than 10% of the reference protein isoform consisting of 1,596 amino acids. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant has been classified as pathogenic. Conclusion: Given the limited number of ADR29 cases reported to date, it is critical to focus attention on the phenotypic features of each new individual and seek out previously undocumented defects. The clinical findings found in our patient align with current knowledge on the correlation between the genotypes characterized by loss-of-function variants in SETBP1 gene and a particular neurological phenotype. Furthermore, the presence of a severely delayed bone age in this patient, which we report for the first time, could indicate a possible indirect but significant contribution of the SETBP1 protein in bone development and maturation processes. This finding highlights the need for further investigation into the potential effects of SETBP1 gene variants on bone health and the possible involvement of the SETBP1 protein in skeletal growth and development.