Perceived barriers and facilitators to infection prevention and control in Dutch residential care facilities for people with intellectual and developmental disabilities: a cross-sectional study.

BACKGROUND: Adequate implementation of infection prevention and control (IPC) in residential care facilities (RCFs) for people with intellectual and developmental disabilities (IDDs) is crucial to safeguarding this vulnerable population. Studies in this field are scarce. This study aimed to identify perceived barriers to and facilitators of IPC among professionals working in these settings, along with recommendations to improve IPC, to inform the development of targeted interventions. METHODS: We administered an online questionnaire to 319 professionals from 16 Dutch RCFs for people with IDDs (March 2021-March 2022). Perceived multilevel barriers and facilitators (guideline, client, interpersonal, organisational, care sector, and policy level) were measured on a 5-point Likert scale (totally disagree-totally agree). Recommendations were assessed using a 5-point Likert scale (not at all helpful-extremely helpful), supplemented by an open-ended question. Barriers, facilitators, and recommendations were analysed by descriptive statistics. Open answers to recommendations were analysed through thematic coding. RESULTS: Barriers to IPC implementation included the client group (e.g., lack of hygiene awareness) (63%), competing values between IPC and the home-like environment (42%), high work pressure (39%), and the overwhelming quantity of IPC guidelines/protocols (33%). Facilitators included perceived social support on IPC between professionals and from supervisors (90% and 80%, respectively), procedural clarity of IPC guidelines/protocols (83%), and the sense of urgency for IPC in the organisation (74%). Main recommendations included the implementation of clear IPC policies and regulations (86%), the development of a practical IPC guideline (84%), and the introduction of structural IPC education and training programmes (for new staff members) (85%). Professionals also emphasised the need for IPC improvement efforts to be tailored to the local care context, and to involve clients and their relatives. CONCLUSIONS: To improve IPC in disability care settings, multifaceted strategies should be adopted. Initial efforts should involve clients (and relatives), develop a practical and context-specific IPC guideline, encourage social support among colleagues through interprofessional coaching, reduce workload, and foster an IPC culture including shared responsibility within the organisation.

Managing non-24-hour sleep-wake rhythm disorder with ramelteon in a 12-year-old girl with Pierre Robin sequence and developmental delay: a case report.

The author recently observed a case involving a 12-year-old sighted girl who exhibited symptoms typical of non-24-hour sleep-wake rhythm disorder (N24SWD). This disorder, more commonly found in blind individuals, presents a unique challenge when diagnosed in those with vision. Several interventions can be attempted, ranging from behavioral adjustments to light therapy. Although melatonin has been noted for its effectiveness in realigning the patient's sleep-wake cycle, the use of ramelteon, a melatonin receptor agonist, has seldom been reported in managing N24SWD. However, this case illuminates the potential of ramelteon as another therapeutic option for sighted individuals with N24SWD. Further study is suggested to determine the potential of ramelteon in managing this disorder among sighted individuals of varying age groups. CITATION: Huang C-H. Managing non-24-hour sleep-wake rhythm disorder with ramelteon in a 12-year-old girl with Pierre Robin sequence and developmental delay: a case report. J Clin Sleep Med. 2024;20(6):995-997.

A job analysis of mental health nursing in a school for students with intellectual and developmental disabilities.

While schools have become settings for the delivery of mental health supports to students, mental health nursing has not yet described its practice in schools. In the absence of this mental health nursing literature, a quantitative self-reporting job analysis methodology was used to describe the tasks of mental health nursing in a specialist school as an observant-participator in a single-case holistic case study. Additional aims were to compare the results with the general school nursing and the disability nursing literatures and interpret these findings for mental health nursing. Categories of tasks from general school nursing were used to deductively interpret the results. Tasks were recorded across all categories of school nursing. The greatest number of tasks were recorded in the professional performance category, followed by planning, then personnel. The least number of tasks were recorded in the health education and promotion category, followed by practice and treatments, assessment and diagnosis, and management. These results differ from tasks in general school nursing but share similarities with intellectual and developmental disability nursing, particularly related to relationships and communication. Practising effectively as a mental health nurse in a specialist school requires capabilities for working with people with disability, particularly communicating and establishing relationships, in addition to clinical mental health skills. Mental health nursing in schools is an area of practice that requires further exploration to capitalise on emerging policy developments to support student mental health.

Reproductive healthcare in adolescents with autism and other developmental disabilities.

BACKGROUND: Adults with developmental disabilities often have less access to reproductive health services than adults without these disabilities. However, little is known about how adolescents with developmental disabilities, including autism, access reproductive healthcare. OBJECTIVE: We aimed to characterize the use of reproductive healthcare services among adolescents with autism and those with other developmental disabilities in comparison with adolescents with typical development. STUDY DESIGN: We conducted a cohort study of a sample of adolescents who were continuously enrolled members of Kaiser Permanente Northern California, an integrated healthcare system, from ages 14 to 18 years. The final analytical sample included 700 adolescents with autism, 836 adolescents with other developmental disabilities, and 2187 typically developing adolescents who sought care between 2000 and 2017. Using the electronic health record, we obtained information on menstrual conditions, the use of obstetrical-gynecologic care, and prescriptions of hormonal contraception. We compared healthcare use between the groups using chi-square tests and covariate-adjusted risk ratios estimated using modified Poisson regression. RESULTS: Adolescents with autism and those with other developmental disabilities were significantly more likely to have diagnoses of menstrual disorders, polycystic ovary syndrome, and premenstrual syndrome than typically developing adolescents. These 2 groups also were less likely than typically developing peers to visit the obstetrician-gynecologist or to use any form of hormonal contraception, including oral contraception, hormonal implants, and intrauterine devices. Adolescents in all 3 groups accessed hormonal contraception most frequently through their primary care provider, followed by an obstetrician-gynecologist. CONCLUSION: Adolescents with autism and those with other developmental disabilities are less likely than their typically developing peers to visit the obstetrician-gynecologist and to use hormonal contraception, suggesting possible care disparities that may persist into adulthood. Efforts to improve access to reproductive healthcare in these populations should target care delivered in both the pediatric and obstetrics-gynecology settings.

A systematic review of self and observer assessment of pain and related functioning in youth with brain-based developmental disabilities.

ABSTRACT: Pain experiences of youth with brain-based developmental disabilities are often overlooked and/or misinterpreted, increasing the risk for poor or inadequate pain assessment and management. Ample measures exist to assess acute and chronic pain, yet their utility and frequency of use in youth with brain-based developmental disabilities is unclear and available measures do not have strong measurement properties for this diverse group. This systematic review identified the scope of self-reported and observer-reported pain assessment in studies of youth (aged 3-24 years) with brain-based developmental disabilities (phase 1) and summarized other measures of pain-related functioning for acute and chronic pain (ie, physical, emotional, social, sleep, and quality of life, within the subset of quantitative studies focused primarily on pain, phase 2). A comprehensive search for English-language studies was conducted in August 2022 in Web of Science, CINAHL, MEDLINE, Cochrane CENTRAL, EMBASE, and APA PsychINFO (PROSPERO registration: CRD42021237444). A total of 17,029 unique records were screened. Of the 707 articles included in phase 1, most assessed chronic pain (n = 314; 62.0%) and primarily used observer-report (n = 155; 31%) over self-report (n = 67; 13%). Of the 137 articles included in phase 2, other outcomes assessed alongside pain intensity included motor ability (16.8%), adaptive functioning (11%), quality of life (8%), pain interference (6.6%), mental health (5.8%), and communication ability (2.9%). Cerebral palsy was the most common population in both phase 1 (n = 343; 48.5%) and phase 2 (n = 83; 59.7%). This review provides a foundational understanding of pain assessment in brain-based developmental disabilities and highlights continued inequities in holistic pain assessment for this population.

Changing Directions and Expanding Horizons: Moving towards More Inclusive Healthcare for Parents of Children with Developmental Disabilities.

Family-centred service (FCS) acknowledges the importance of family engagement in therapeutic processes and focuses on the needs of all family members. This way of thinking and practicing is becoming increasingly recognized as an optimal care delivery model for families of children with developmental disabilities (DDs). However, in most places, disability services are oftentimes 'child-centric', wherein family members are seen only as partners in therapy or care delivery, while their own needs are not addressed. This arises from the lack of awareness of complex and highly individual family needs by professionals with whom they interact, but also from a significant lack of service infrastructure oriented towards parent-specific needs in existing service delivery models. This concept paper highlights the known challenges associated with parenting a child with a DD and discusses the intersectionality of factors impacting parental health and well-being, with a goal of promoting more equitable, holistic, and inclusive healthcare for all family members of children with DDs.

The Importance of Integrated Care for Individuals With Intellectual and Developmental Disabilities.

People with intellectual and developmental disabilities (IDDs) commonly have complex healthcare challenges. An IDD is a condition that is a result of an abnormality beginning during a person's neurodevelopment, often occurring in utero but also possibly occurring up to age 18. Any injury or maldevelopment of the nervous system can often result in lifelong health complications in this population, including those involving intellect, language, motor skills, vision, hearing, swallowing, behavior, autism, seizures, digestion, and many other areas. Individuals with IDDs often have multiple health complications, and their care is usually provided by a number of different healthcare providers, including a primary care provider, various healthcare specialists who focus on their particular areas of concern, an oral health provider, and a behavioral specialist(s), if needed. The American Academy of Developmental Medicine and Dentistry appreciates that integrated care is essential to providing care to those with IDDs. The name of the organization itself includes both medical and dental aspects, and the organization's guiding principles include the concepts of integrated care, person-centered and family-centered approaches, and a deep appreciation for the importance of values and inclusion in a community. Continuing to provide education and training to healthcare practitioners is a key to improving health outcomes for individuals with IDDs. Additionally, focusing on the importance of integrated care will ultimately lead to a reduction in health disparities and improve access to quality healthcare services.

Newborn Auditory Brainstem Responses in Children with Developmental Disabilities.

We integrated data from a newborn hearing screening database and a preschool disability database to examine the relationship between newborn click evoked auditory brainstem responses (ABRs) and developmental disabilities. This sample included children with developmental delay (n = 2992), speech impairment (SI, n = 905), language impairment (n = 566), autism spectrum disorder (ASD, n = 370), and comparison children (n = 128,181). We compared the phase of the ABR waveform, a measure of sound processing latency, across groups. Children with SI and children with ASD had greater newborn ABR phase values than both the comparison group and the developmental delay group. Newborns later diagnosed with SI or ASD have slower neurological responses to auditory stimuli, suggesting sensory differences at birth.

Home-based music therapy for children with developmental disorders during the COVID-19 pandemic.

INTRODUCTION: During the COVID-19 pandemic, children with neurodevelopmental disabilities could not attend their usual rehabilitation therapies, with a consequent reduced support of developmental process and risk of worsening of their clinical conditions. METHODS: We prospectively enrolled 14 children with developmental delay, who had already tried a personalised music therapy (Euterpe method). We included them in a 12-day programme of home-based music therapy. The children and their parents were investigated using the Sleep Disturbance Scale for Children and the Parent Stress Index-Short Form. RESULTS: Fourteen children started the intervention, while only 12 children completed all the planned home sessions and assessments. We observed a significant improvement in children's sleep quality and a reduction of parental distress. DISCUSSION: The significant improvements in parental distress and sleep quality must be considered important achievements for the quality of life of a child and their family. Home-based music therapy can provide a feasible approach to improving sleep and parent's stress for children with developmental disorders.

Clinical and genetic analysis of a child with Schaaf-Yang syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Schaaf-Yang syndrome (SYS).@*METHODS@#Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Sanger sequencing was used for family constellation verification, and bioinformatic analysis was performed for the candidate variant.@*RESULTS@#The child, a 1-year-and-9-month-old boy, had clinical manifestations of retarded growth, small penis, and unusual facies. Genetic testing revealed that the child has harbored a novel heterozygous variant of c.3078dupG (p.Leu1027Valfs*28) of the MAGEL2 gene. Sanger sequencing showed that neither parent of the child carried the same variant. The c.3078dupG(p.Leu1027Valfs*28) variant of the MAGEL2 gene has not been included in the databases of ESP, 1000 Genomes and ExAC. According to the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG), the variant was judged to be pathogenic.@*CONCLUSION@#The c.3078dupG (p.Leu1027Valfs*28) variant of the MAGEL2 gene probably underlay the SYS in this child, which has further expanded the spectrum of the MAGEL2 gene variants.

[Clinical and genetic analysis of a child with Schaaf-Yang syndrome].

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Schaaf-Yang syndrome (SYS). METHODS: Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Sanger sequencing was used for family constellation verification, and bioinformatic analysis was performed for the candidate variant. RESULTS: The child, a 1-year-and-9-month-old boy, had clinical manifestations of retarded growth, small penis, and unusual facies. Genetic testing revealed that the child has harbored a novel heterozygous variant of c.3078dupG (p.Leu1027Valfs*28) of the MAGEL2 gene. Sanger sequencing showed that neither parent of the child carried the same variant. The c.3078dupG(p.Leu1027Valfs*28) variant of the MAGEL2 gene has not been included in the databases of ESP, 1000 Genomes and ExAC. According to the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG), the variant was judged to be pathogenic. CONCLUSION: The c.3078dupG (p.Leu1027Valfs*28) variant of the MAGEL2 gene probably underlay the SYS in this child, which has further expanded the spectrum of the MAGEL2 gene variants.

Percepções de familiares sobre uma rede de cuidados de saúde mental infantojuvenil / Family perceptions about a children's mental health network / Percepciones familiares sobre una red de atención de salud mental infantojuvenil

Este artigo pretende conhecer como a rede de cuidados em saúde tem se operacionalizado a partir da percepção de familiares de crianças com demanda de cuidado em saúde mental (SM). Foram realizados dois grupos focais, um com familiares da Atenção Básica (AB) e outro com familiares do Centro de Atenção Psicossocial Infantojuvenil (CAPSij), totalizando 15 participantes. Seguiu-se com a análise lexical do tipo classificação hierárquica descendente, com o auxílio do software R Interface, a fim de análises multidimensionais de textos e questionários (IRaMuTeQ), resultando em cinco classes: A Pílula Mágica; Forças e Fraquezas dos serviços; Procurando por ajuda; Aceitando o diagnóstico da criança e Onde procurei ajuda. Os resultados apontam para dificuldades presentes na AB em identificar e manejar situações de Saúde Mental Infantojuvenil (SMIJ), por meio de uma lógica ainda medicalizante. Ressalta-se que a escola é apresentada como lugar de destaque na produção da demanda por cuidado e a família ainda é pouco convocada à construção das ações. Conclui-se, então, que avanços ainda são necessários para operacionalização de um cuidado pautado nas diretrizes da política de SMIJ.(AU)

This article aims to know how the healthcare network has been operationalized from the perception of family members of children with demand for mental health care (MH). Two focus groups were held, one with family members from Primary Care (PC) and the other with family members from the Child Psychosocial Care Center (CAPSij), totaling 15 participants. A lexical analysis of the descending hierarchical classification type was performed with the help of the software R Interface for multidimensional analyzes of texts and questionnaires (IRAMUTEQ), resulting in five classes: The Magic Pill; Strengths and Weaknesses of services; Looking for help; Accepting the child's diagnosis; and Where did I look for help. The results point to difficulties present in PC in identifying and managing situations of mental health in children and adolescents (MHCA), with a medicalization logic. Note that the school is presented as a prominent place in producing the demand for care, and the family is still not very much involved in the actions. It is, thus, concluded that advances are still needed for operationalization of care guided by MHCA policy guidelines.(AU)

Este artículo tuvo por objetivo conocer cómo opera una red asistencial a partir de la percepción de familiares de niños con demanda de atención en salud mental (SM). Se realizaron dos grupos focales, uno con familiares de Atención Primaria (AP) y otro con familiares del Centro de Atención Psicosocial Infantojuvenil (CAPSij), totalizando 15 participantes. Se realizó análisis léxico del tipo clasificación jerárquica descendente con la ayuda del software Interface de R pour les Analyses Multidimensionnelles de Textes et de Questionnaires (IRAMUTEQ), lo que resultó en cinco clases: "La píldora mágica"; "Fortalezas y debilidades de los servicios"; "En busca de ayuda"; "Aceptar el diagnóstico del niño" y "¿Dónde busqué ayuda?". Los resultados apuntan las dificultades presentes en AP para identificar y manejar situaciones de salud mental infantojuvenil (SMIJ) mediante una lógica aún medicalizante. La escuela tiene un lugar destacado en la producción de la demanda de cuidados y la familia aún no está muy involucrada en la construcción de acciones. Se concluye que se necesitan avances para ofertar una atención guiada por lineamientos de la política del SMIJ.(AU)

Notas sobre o pesquisar em cena(s) / Notes on researching in scenes / Notas sobre la investigación en escena(s)

O presente artigo tem como objetivo apresentar a construção metodológica desenvolvida em uma pesquisa de mestrado, na qual sustentamos a escrita de cenas como método de pesquisa da escuta clínica. As cenas do trabalho em questão foram recolhidas ao longo do tempo, no contorno da experiência de um projeto de extensão universitária de atenção à infância e adolescência em situação de vulnerabilidade social, situado em uma comunidade periférica. Apresentamos, neste texto, as interrogações que se elaboraram em torno da escolha pelo trabalho com cenas, e compartilhamos o resgate histórico dessas como um método de escrever a clínica, bem como a retomada de sua análise a partir da tradição psicanalítica. Amparadas nesta teoria e em leituras e contribuições do filósofo francês Jacques Derrida, embasamos a noção de que a cena se constitui como um lugar de produção, ao engendrar a configuração particular de elementos significantes nos processos de subjetivação e de construção social. A cena não é, então, compreendida aqui como uma representação do que acontece na clínica, mas como um modo de produzir a escuta e os seus processos de investigação.(AU)

This article aims to present the methodological construction developed in a master's research, in which the writing of scenes as a method of clinical listening research was endorsed. The scenes from the study in question were collected over time, from the experience gained in a project conducted within a university extension program on care in childhood and adolescence in social vulnerability, in a peripheral community. In this study, we present some questions that were elaborated surrounding the choices of working with scenes; and we share the historical rescue of this work as a method of writing on clinic practices and resuming their analysis from the psychoanalytic tradition. Based on the psychoanalytic theory and on the readings and contributions of the French philosopher Jacques Derrida, we corroborate the notion that the scene is constituted as a place of production, engendering the particular configuration of significant elements in the processes of subjectivation and social construction. Here, the scene is not a representation of clinical practice but one mode of producing listening and its research processes.(AU)

Este artículo tiene como objetivo presentar la construcción metodológica desarrollada en una investigación de maestría, en la que sostenemos la escritura de escenas como método de investigación de la escucha clínica. Las escenas del trabajo en cuestión se recogieron a lo largo del tiempo desde la experiencia en un proyecto de extensión universitario de atención a la niñez y adolescencia en situación de vulnerabilidad social aplicado en una comunidad periférica. En este texto, presentamos los interrogantes que se elaboraron en torno a la elección por el trabajo con escenas y compartimos el rescate histórico de las mismas como un método de escribir la clínica y la reanudación del análisis a partir de la tradición psicoanalítica. Amparadas en el psicoanálisis y en lecturas y contribuciones del filósofo francés Jacques Derrida, nos basaremos en la noción de que la escena se constituye como un lugar de producción, engendrando la configuración particular de elementos significantes en los procesos de subjetivación y de construcción social. La escena no es aquí una representación de lo que pasa en la clínica, sino un modo de producir escucha y sus procesos de investigación.(AU)

Psicólogas(os) no sistema educacional de Boa Vista/Roraima: concepções, práticas e desafios / Psychologists in the educational system of Boa Vista/Roraima: conceptions, practices and challenges / Psicólogas(os) en el sistema educativo de Boa Vista/Roraima: concepciones, prácticas y retos

O objeto de estudo deste trabalho é a atuação de psicólogas(os) no campo da educação básica. Tivemos como objetivo investigar as práticas de atuação e os desafios enfrentados pelas(os) psicólogas(os) que trabalham na educação em Boa Vista (RR), com intuito de conhecer a inserção desses profissionais no sistema educacional. Trata-se de pesquisa qualitativa, orientada pelo referencial teórico-metodológico da Psicologia Escolar Crítica. Realizamos o processo de levantamento dos dados entre os meses de março e abril de 2018, por meio de entrevistas semiestruturadas, audiogravadas e transcritas. Encontramos 21 psicólogas e um psicólogo trabalhando em instituições educacionais e de ensino na cidade; a maioria atuava na educação básica; metade dos entrevistados ingressou por concurso público e a outra metade era contratada e comissionada; poucos(as) foram contratados(as) como psicólogos(as) escolares. Para a análise, selecionamos dez psicólogas(os) com mais tempo no cargo. Quanto às práticas de atuação, identificamos que 60% atuavam na modalidade clínica e 40% na modalidade clínica e institucional. Como desafios, encontramos melhoria das condições de trabalho; estabelecimento de relações hierárquicas e a dificuldade de fazer compreender as especificidades desse campo de trabalho; necessidade na melhoria das condições para formação continuada; atuação da(o) psicóloga(o) escolar enquanto ação institucional. Diante do exposto, compreendemos ser necessária uma mudança de paradigma na atuação das(os) psicólogas(os) que trabalham na educação na região, e a apropriação das discussões da área, principalmente, aquelas apresentadas pela Psicologia Escolar Crítica, vez que esta contribui para uma atuação que leve em conta os determinantes sociais, políticos, culturais e pedagógicos que constituem o processo de escolarização.(AU)

This work has as object of study the role of psychologists in the field of Basic Education. We aimed to investigate practices and challenges faced by psychologists who work in education in Boa Vista/RR, to know the insertion of these professionals in the educational system. This is a qualitative research, guided by the theoretical-methodological framework of Critical School Psychology. The data collection process was carried out between March and April 2018, with semi-structured, audio-recorded, and transcribed interviews. We found 21 female psychologists and one male psychologist working in educational institutions in the municipality; most worked in Basic Education; half of the interviewees had applied to work as government employee and the other half were hired and commissioned; few were hired as school psychologists. To carry out the analysis, we selected ten psychologists with more time in the position. Regarding the practices, we have identified that 60% worked in the clinical modality and 40% in the clinical and institutional modality. As challenges, we find the improvement in working conditions; the establishment of hierarchical relationships and the difficulty of making the specificities of this field of work understood; the need to improve conditions for continuing education; the practice of the school psychologist as institutional action. In view of the above, we understand that a paradigm shift in the performance of psychologists working in education in that region is necessary, and the appropriation of discussions in the area, especially those presented by Critical School Psychology, contributes to an action that considers social, political, cultural, and pedagogical determinants that constitute the schooling process.(AU)

Este trabajo tiene como objeto de estudio la actuación profesional de las(os) psicólogas(os) en la educación básica. Su objetivo es investigar las prácticas y retos que enfrentan las(os) psicólogas(os) que trabajan en la educación en Boa Vista, en Roraima (Brasil), con la intención de conocer la inserción de estos profesionales en el sistema educativo. Esta es una investigación cualitativa que se guía por el marco teórico-metodológico de la Psicología Escolar Crítica. Se recopilaron los datos entre los meses de marzo y abril de 2018, mediante entrevistas semiestructuradas, grabadas en audio y después transcritas. Las 21 psicólogas y un psicólogo trabajan en instituciones educativas de la ciudad; la mayoría trabajaba en la educación básica; la mitad de los entrevistados ingresaron mediante concurso público y la otra mitad era contratada y de puesto comisionado; pocos fueron contratados como psicólogos escolares. Para el análisis, se seleccionaron diez psicólogas(os) con más tiempo en el cargo. Con respecto a las prácticas, el 60% trabajaba en la modalidad clínica; y el 40%, en la modalidad clínica e institucional. Los retos son mejora de las condiciones laborales; establecimiento de relaciones jerárquicas y dificultad para comprender las especificidades de este campo de trabajo; necesidad de mejorar las condiciones para la educación continua; y actuación dela (del) psicóloga(o) escolar como acción institucional. En vista de lo anterior, es necesario el cambio de paradigma en la práctica profesional de las(os) psicólogas(os) que trabajan en la educación de la región y la apropiación de las discusiones del área, especialmente las presentadas por la Psicología Escolar Crítica, que contribuye a una acción que tiene en cuenta los determinantes sociales, políticos, culturales y pedagógicos que constituyen el proceso de escolarización.(AU)

[Ontwikkelingsstoornissen bij volwassenen: het nut van de holistische theorie]. / Ontwikkelingsstoornissen bij volwassenen: het nut van de holistische theorie.

During the diagnostic process of developmental disorders in adults, diagnosticians often encounter diagnostic uncertainty. In this article, I describe how the holistic theory can be employed in this context in order to prevent diagnostic reductionism. A fictitious vignette illustrates the method.

Uso del método de observación: una propuesta de aplicación al análisis de estrategias de resolución de problemas en niños con discapacidad / Use of observational method: a proposal for application to the analysis of problem-solving strategies in children with disabilities

El presente trabajo se ocupa de evaluar posibilidades del método de observación aplicado al análisis de estrategias de resolución de problemas en niños con discapacidad mediante juegos y tareas estructuradas. El marco teórico de referencia de esta contribución está representado por la teoría de la resolución de problemas, que contiene los principales procesos que intervienen en la gestión de los problemas y que nosotros aplicamos al desarrollo cognitivo y metacognitivo atípico. Junto con tres tareas diferentes estructuradas(Torre de Hanoi, Tetris y Bloques de construcción), usamos dos listas de comportamientos para codificar estrategias de resolución de problemas adoptadas por niños y/o adolescentes con desarrollo atípico. La aplicación de este tipo de observación con el uso de listas de comportamientos podría ser útil para crear en relación entre la investigación cualitativa y cuantitativa para mejorar el conocimiento de las estrategias de resolución de problemas y competencias metacognitivas en niños desarrollados atípicos(AU)

This paper is concerned with evaluating the possibilities of the observational method applied to the analysis of problem-solving strategies in children with disabilities through structured tasks. The theoretical framework of reference for this contribution is represented by the theory of problem-solving, containing the main processes involved in problem management,which we apply to atypical cognitive and metacognitive development. Together with three different structured tasks (Tower of Hanoi, Tetris, and Building Blocks), we used two lists of behaviors to code problem-solving strategies adopted by children and/or adolescents with atypical development. The application of this type of observation with the use of lists of behaviors could be useful to create a link between qualitative and quantitative research to improve the knowledge of problem-solving strategies and metacognitive competencies in atypically developed children(AU)

cATR Tracing Approach to Identify Individual Intermediary Neurons Based on Their Input and Output: A Proof-of-Concept Study Connecting Cerebellum and Central Hubs Implicated in Developmental Disorders.

Over the past decades, it has become increasingly clear that many neurodevelopmental disorders can be characterized by aberrations in the neuro-anatomical connectome of intermediary hubs. Yet, despite the advent in unidirectional transsynaptic tracing technologies, we are still lacking an efficient approach to identify individual neurons based on both their precise input and output relations, hampering our ability to elucidate the precise connectome in both the healthy and diseased condition. Here, we bridge this gap by combining anterograde transsynaptic- and retrograde (cATR) tracing in Ai14 reporter mice, using adeno-associated virus serotype 1 expressing Cre and cholera toxin subunit B as the anterograde and retrograde tracer, respectively. We have applied this innovative approach to selectively identify individual neurons in the brainstem that do not only receive input from one or more of the cerebellar nuclei (CN), but also project to the primary motor cortex (M1), the amygdala or the ventral tegmental area (VTA). Cells directly connecting CN to M1 were found mainly in the thalamus, while a large diversity of midbrain and brainstem areas connected the CN to the amygdala or VTA. Our data highlight that cATR allows for specific, yet brain-wide, identification of individual neurons that mediate information from a cerebellar nucleus to the cerebral cortex, amygdala or VTA via a disynaptic pathway. Given that the identified neurons in healthy subjects can be readily quantified, our data also form a solid foundation to make numerical comparisons with mouse mutants suffering from aberrations in their connectome due to a neurodevelopmental disorder.

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

Proteins containing the FERM (four-point-one, ezrin, radixin, and moesin) domain link the plasma membrane with cytoskeletal structures at specific cellular locations and have been implicated in the localization of cell-membrane-associated proteins and/or phosphoinositides. FERM domain-containing protein 5 (FRMD5) localizes at cell adherens junctions and stabilizes cell-cell contacts. To date, variants in FRMD5 have not been associated with a Mendelian disease in OMIM. Here, we describe eight probands with rare heterozygous missense variants in FRMD5 who present with developmental delay, intellectual disability, ataxia, seizures, and abnormalities of eye movement. The variants are de novo in all for whom parental testing was available (six out of eight probands), and human genetic datasets suggest that FRMD5 is intolerant to loss of function (LoF). We found that the fly ortholog of FRMD5, CG5022 (dFrmd), is expressed in the larval and adult central nervous systems where it is present in neurons but not in glia. dFrmd LoF mutant flies are viable but are extremely sensitive to heat shock, which induces severe seizures. The mutants also exhibit defective responses to light. The human FRMD5 reference (Ref) cDNA rescues the fly dFrmd LoF phenotypes. In contrast, all the FRMD5 variants tested in this study (c.340T>C, c.1051A>G, c.1053C>G, c.1054T>C, c.1045A>C, and c.1637A>G) behave as partial LoF variants. In addition, our results indicate that two variants that were tested have dominant-negative effects. In summary, the evidence supports that the observed variants in FRMD5 cause neurological symptoms in humans.

Cross-sectional Comparison of Disparities by Race Using White vs Hispanic as Reference Among Children and Youths With Developmental Disabilities Referred for Speech Therapy.

Importance: Health care research on racial disparities among children and youths has historically used the White race as a reference category with which other racial and ethnic groups are compared, which may inadvertently set up Whiteness as a standard for health. Objective: To compare 2 interpretations of an analysis of racial disparities in speech therapy receipt among children and youths with developmental disabilities: a traditional, White-referenced analysis and a Hispanic majority-referenced analysis. Design, Setting, and Participants: This cross-sectional study used multiple logistic regression to analyze speech therapy referrals for children, adolescents, and transition age youths in an integrated health care system in Southern California from 2017 to 2020. Eligible participants were children and youths up to age 26 years with 1 or more diagnosed intellectual or developmental disability (eg, autism spectrum disorder, speech or language delay, developmental delay, Down syndrome, and others). Exposures: Child or youth race and ethnicity as reported by parents or caregivers (Asian, Black and African American, Hispanic and Latinx, American Indian or Alaskan Native, Native Hawaiian or Pacific Islander, White, multiple, and other). Main Outcomes and Measures: Receipt of speech therapy within 1 year of referral. Results: A total 66 402 referrals were included; 65 833 referrals (99.1%) were for children under age 17 years, 47 323 (71.3%) were for boys, and 39 959 (60.2%) were commercially insured. A majority of participants were identified as Hispanic (36 705 [55.3%]); 6167 (9.3%) were identified as Asian, 4810 (7.2%) as Black, and 14 951 (22.5%) as White. In the traditional racial disparities model where the reference category was White, referrals of children and youths who identified as Hispanic, Black, Pacific Islander, and other had lower odds of actual receipt of speech therapy compared with referrals for White children and youths (Hispanic: OR, 0.79; 95% CI, 0.75-0.83; Black: OR, 0.72; 95% CI, 0.66-0.78; Pacific Islander: OR, 0.74; 95% CI, 0.57-0.98). When using the majority race group (Hispanic) as the reference category, referrals for children and youths who identified as White (OR, 1.26; 95% CI, 1.20-1.30), Asian (OR, 1.21; 95% CI, 1.12-1.30), and multiracial (OR, 1.35; 95% CI, 1.08-1.71) had higher odds of resulting in actual service receipt in comparison with referrals for Hispanic children and youths. Conclusions and Relevance: The cross-sectional study demonstrates the value of decentering Whiteness in interpreting racial disparities research and considering racial differences against multiple referents. Racial disparities researchers should consider investigating multiple between-group differences instead of exclusively using White as the default reference category.

Short- and Long-Term Effects of Suboptimal Selenium Intake and Developmental Lead Exposure on Behavior and Hippocampal Glutamate Receptors in a Rat Model.

Selenium (Se) is an essential trace element required for normal development as well as to counteract the adverse effects of environmental stressors. Conditions of low Se intake are present in some European countries. Our aim was to investigate the short- and long-term effects of early-life low Se supply on behavior and synaptic plasticity with a focus on the hippocampus, considering both suboptimal Se intake per se and its interaction with developmental exposure to lead (Pb). We established an animal model of Se restriction and low Pb exposure; female rats fed with an optimal (0.15 mg/kg) or suboptimal (0.04 mg/kg) Se diet were exposed from one month pre-mating until the end of lactation to 12.5 µg/mL Pb via drinking water. In rat offspring, the assessment of motor, emotional, and cognitive endpoints at different life stages were complemented by the evaluation of the expression and synaptic distribution of NMDA and AMPA receptor subunits at post-natal day (PND) 23 and 70 in the hippocampus. Suboptimal Se intake delayed the achievement of developmental milestones and induced early and long-term alterations in motor and emotional abilities. Behavioral alterations were mirrored by a drop in the expression of the majority of NMDA and AMPA receptor subunits analyzed at PND 23. The suboptimal Se status co-occurring with Pb exposure induced a transient body weight increase and persistent anxiety-like behavior. From the molecular point of view, we observed hippocampal alterations in NMDA (Glun2B and GluN1) and AMPA receptor subunit trafficking to the post-synapse in male rats only. Our study provides evidence of potential Se interactions with Pb in the developing brain.