'It Feels Very Weird and Normal at the Same Time': Sibling Perceptions of Their Relationships With an Autistic Brother or Sister With Complex Care Needs.

Background: The impact of having a disabled brother or sister on siblings' psychological well-being and sibling relationships has been the subject of several research studies. However, research which focuses on the relationship between siblings and their autistic brother or sister with an intellectual disability and complex care needs is rare. We explored siblings' views and experiences of their sibling relationship with their autistic brother or sister with complex care needs.

Sex Differences in Natural History and Health Outcomes Among Individuals With Tic Disorders.

Objectives: To analyze sex differences in outcomes in Tourette syndrome (TS) and Persistent Motor or Vocal tic disorders (PMVT) in the Tourette Association of America International Consortium for Genetics (TAAICG) dataset.

Methods: The relationship between sex and clinical measures was explored in 2,403 participants (N = 2,109 with TS; N = 294 with PMVT) from the TAAICG dataset using generalized estimating equation regression models, and adjusted for age and family relationships.

Results: Female (vs male) participants with TS (25.

Corrigendum to "Clothing design solutions for children with developmental disabilities: A scoping review protocol" [MethodsX Volume 13 (2024) 102974].

[This corrects the article DOI: 10.1016/j.mex.

ROAR-CAT: Rapid Online Assessment of Reading ability with Computerized Adaptive Testing.

The Rapid Online Assessment of Reading (ROAR) is a web-based lexical decision task that measures single-word reading abilities in children and adults without a proctor. Here we study whether item response theory (IRT) and computerized adaptive testing (CAT) can be used to create a more efficient online measure of word recognition. To construct an item bank, we first analyzed data taken from four groups of students (N = 1960) who differed in age, socioeconomic status, and language-based learning disabilities.

A community-based intervention (the Omama Project) improves neurodevelopment in impoverished 2-year-old Roma children: a quasi-experimental observational study.

Unlabelled: High rates of childhood neurodisability are reported among the Roma, Europe's largest ethnic minority community. Interventions targeting early child development (ECD) during the first 2 years of life can improve neurodevelopmental outcomes in vulnerable children; however, evidence from Roma preschoolers is scarce. In a quasi-experimental observational study, we compared neurodevelopmental outcomes at age 2 years, measured on the INTERGROWTH-21st Project Neurodevelopmental Assessment (INTER-NDA), between Roma children receiving a community-based ECD intervention (RI, n = 98), and age- and sex-matched Roma and non-Roma children (RC, n = 99 and NRC, n = 54, respectively) who did not receive the intervention in Eastern Slovakia.

Decoding brain structure to stage Alzheimer's disease pathology in Down syndrome.

Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.

Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).

The Impact of Peer-Based Recovery Support Services: Mediating Factors of Client Outcomes.

Research demonstrates a positive impact of Peer Based Recovery Support Services (PBRSS) facilitated by peer recovery specialists (PRS), who are people in recovery from behavioral health conditions (e.g., substance use disorders [SUD] and mental health conditions).

Determinants of Prolonged Hospitalization in Children and Adolescents: A Retrospective Observational Study.

Introduction: Ensuring an appropriate length of stay (LOS) is a primary goal for hospitals, as prolonged LOS poses clinical risks and organizational challenges. Children and adolescents are particularly susceptible to prolonged LOS due to frequent hospitalizations and unique vulnerabilities, including developmental disabilities that may necessitate additional care and monitoring. This study aims to describe the LOS of children and adolescent patients and identify the sociodemographic, organizational, clinical, and nursing care factors contributing to prolonged LOS in this population.

Understanding barriers and facilitators impacting parental adherence to positional plagiocephaly or brachycephaly prevention strategies: A qualitative exploration.

Background: Positional plagiocephaly or brachycephaly (PPB), linked to developmental delays and asymmetrical features, often prompts parental concern and medical consultation.

Objective: This qualitative study explores factors influencing parental adherence to PPB prevention strategies.

Methods: Fifteen parents of newborns participated in semi-structured interviews.

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.

Direct Evaluation of Salivary Antioxidant Properties in Patients with Down Syndrome for assessment to Periodontal Disease and Premature Aging.

To evaluate oxidative stress involved in Down syndrome periodontal disease and pathological premature aging, reactive oxygen species (ROS) such as superoxide (O) and hydroxyl radical (HO) in human saliva were measured using electron spin resonance (ESR) spectroscopy. The groups consisted of 20 subjects in the Down syndrome (DS) child (DC) group (mean age 11.3 ± 4.

Empowering lives: How deinstitutionalization and community living improve the quality of life of individuals with intellectual and developmental disabilities.

Background: The number of people with intellectual and developmental disabilities (IDD) living in residential settings has not changed substantially in recent years in Spain. To change this situation the project "My House: A Life in the Community" aims to promote the transition of individuals with IDD and high support needs into community settings.

Aims: This paper deepens the understanding of the underlying mechanisms responsible for the changes observed in the process of deinstitutionalization.

Experiences of siblings of individuals with developmental disabilities: A meta-synthesis of qualitative studies.

Background: While the impact of developmental disabilities (DD) on the entire family is increasingly recognized, the experiences of typically developing (TD) siblings often remain overlooked. Recently, an understanding of siblings' experiences has been developed through qualitative studies.

Objective: This review aims to synthesize existing qualitative evidence regarding the experiences of TD siblings of individuals with DD.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Fostering the Physical-Literacy Development of Individuals Experiencing Disability Through the Use of PLayTubs: A Pilot Study.

Physical literacy (PL) is increasingly being implemented as a means for holistic development for children and youth. Despite this, children experiencing disabilities and their families continue to face barriers that impede participation in physical activities and subsequent PL development. To empower families to actively engage in their PL development, this study sought to provide an accessible, home- and play-based, parent-facilitated intervention, namely, PLayTubs.

Effect of virtual interactions through avatar agents on the joint Simon effect.

The joint Simon effect refers to inhibitory responses to spatially competing stimuli during a complementary task. This effect has been considered to be influenced by the social factors of a partner: sharing stimulus-action representation. According to this account, virtual interactions through their avatars would produce the joint Simon effect even when the partner did not physically exist in the same space because the avatars are intentional agents.

De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports.

Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.

'Aside from my limitations, I'm aging very successfully': a qualitative approach to successful ageing among older people with early onset motor disabilities.

Objectives: The concept of successful aging has been criticized for overlooking the experiences of older adults aging with disabilities, which may accentuate segregation and consolidate inequities. This qualitative study explored how older people living with early-onset mobility disabilities define successful aging, whether their definitions differ from those proposed by academia and from those of older people without disabilities, and to what extent older people with motor disabilities perceive themselves as aging successfully.

Method: Thirty-two people (20 women, 12 men) aged over 60 and living with motor disabilities for a minimum of 20 years were interviewed about their definition of successful aging and whether they considered that they were aging successfully.

Slovenian Nursing Students' Perspectives and Experiences with Nursing Care of People with Intellectual and Developmental Disabilities: A Qualitative Descriptive Study.

Providing nursing care for individuals with intellectual and developmental disabilities can be challenging for nursing students, often perceived as stressful, demanding, and, at times, unpleasant. This study aimed to describe the experiences of students in their interactions and provision of nursing care for people with intellectual and developmental disabilities. : A qualitative descriptive study was conducted.

Altered Connectome Topology in Newborns at Risk for Cognitive Developmental Delay: A Cross-Etiologic Study.

The human brain connectome is characterized by the duality of highly modular structure and efficient integration, supporting information processing. Newborns with congenital heart disease (CHD), prematurity, or spina bifida aperta (SBA) constitute a population at risk for altered brain development and developmental delay (DD). We hypothesize that, independent of etiology, alterations of connectomic organization reflect neural circuitry impairments in cognitive DD.

The Challenges Associated with : Barriers to Implementing Naturalistic Developmental Behavioral Interventions in ABA Settings.

Unlabelled: Naturalistic developmental behavioral intervention (NDBI) supports early social communication skills in young autistic children. Given their emphasis on child-led learning opportunities, NDBI is thought to be a socially valid approach to autism early intervention. Applied behavior analysis (ABA) practices could be an ideal setting to increase access to NDBIs for young autistic children; however, current ABA services continue to rely primarily on structured and adult-led approaches to teaching, including discrete trial training (DTT), which have been criticized for their intensity, limitations in skill generalization, and possible harms.

The Influence of Photographic Representations on U.S. Medical Students' Attitudes and Beliefs About Persons With Disabilities: A Qualitative Study.

There is a crucial need to more deeply understand the impact and etiology of bias toward persons with developmental disabilities (PWDD). A largely unstudied area of concern and possible intervention is the portrayal of PWDD in medical education. Often, medical photographs portray PWDD with obscured faces, emotionless, and posed in an undignified way.

Place of death and healthcare utilisation at the end of life among individuals with mental and behavioural disorders as underlying cause of death: population-level multiple-register study.

Background: Understanding the place of death for individuals with mental and behavioural disorders (MBDs) is essential for identifying disparities in healthcare access and outcomes, as well as addressing broader health inequities within this population.

Aims: To examine the place of death among individuals in Sweden with the underlying cause of death reported as a MBD and compare variations between diagnostic groups, as well as explore associations between place of death and individual, sociodemographic and clinical factors.

Method: This population-level analysis used death certificate data (gender, age, underlying cause of death and place of death) recorded between 2013 and 2019 and other national register data.

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.

Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.