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.

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.

Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.

A pilot-test to support healthcare providers in promoting vaccine uptake among individuals with intellectual and developmental disabilities.

Individuals with intellectual and/or developmental disabilities (I/DDs) encounter barriers to vaccine access, uptake, and confidence, leading to health inequities. These include barriers related to healthcare provider capacity to effectively address the social determinants of health, provide accessible needle procedures, and translate and disseminate inclusive public health information. The current study aimed to test the preliminary effectiveness of a virtual continuing medical education (CME) course on enhancing healthcare provider capacity to address these barriers.

We All Need at Least One Friend Who Understands What We Do Not Say: A Scoping Review of Friendship and Augmentative and Alternative Communication.

Purpose: The purpose of this scoping review was to understand what is known about the friendships of individuals who use augmentative and alternative communication (AAC) devices. Because communication is important to friendship, severe communication impairment may impact the establishment or maintenance of friendships in unique and important ways.

Method: Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines for scoping reviews and Covidence software using an established set of operationally defined inclusion criteria supported the identification of the 46 papers included in this review.

Novel Copy Number Deletion Involving Associated With Epilepsy, Tremor, and Intellectual Disability.

Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.

Three-Dimensional Gait Analysis of School-Age Children With Angelman Syndrome: A Case-Control Study.

Gait disturbance is a common motor symptom in Angelman syndrome (AS), but its characteristics have been poorly studied quantitatively. This study aimed to analyze gait characteristics in school-age children with AS using three-dimensional gait analysis (3DGA). Patients with clinically and genetically confirmed AS and healthy children aged 6-15 years were included.

Impact of Social Disadvantage on Medical and Functional Severity in Children With Cerebral Palsy.

Background: Those with neurological disorders like cerebral palsy (CP) may experience an altered impact of social determinates of health on child functioning and well-being. We investigated the relationship between relative social advantage and medical and functional outcomes in a large cohort of children, adolescents and young adults with CP (n = 1269, aged 2-84 years).

Methods: We extracted data from the Cerebral Palsy Research Registry and dichotomized a range of independent factors (income, ethnicity and race) into advantaged and disadvantaged/vulnerable and a range of medical and functional outcomes (gross motor, manual ability, behaviour, breathing, nutritional intake, hearing, seizures, language and vision) and computed odds ratios using logistic regression.