Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disability.

BACKGROUND: Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe. However, there is a scarcity of literature evaluating how to effectively involve them in decision making. In this context, we review the concept of health literacy, focusing on the skills of healthcare decision making for children and adolescents with intellectual disability. METHODS: We describe the concept of health literacy and models explaining shared decision making (individuals and healthcare professionals collaborate in decision making process) and supported decision making (when a trusted person supports the individual to collaborate with the healthcare professional in the decision-making process), and a rapid review of the literature evaluating their efficacy. We discuss healthcare decision making for children and adolescents with intellectual disability in the context of relevant recommendations from the recent Disability Royal Commission into Violence, Abuse, Neglect, and Exploitation of People with Disability in Australia. RESULTS: Health literacy skills enable individuals to access, understand, appraise, remember and use health information and services. Shared decision making has been described for children with chronic conditions and supported decision making for adults with intellectual disability. Decision-making contributes to how individuals appraise and use healthcare. The rapid review found very limited evidence of outcomes where children and adolescents with intellectual disability have been supported to contribute to their healthcare decisions. Recommendations from the Disability Royal Commission highlight current needs for greater efforts to support and build the capacity of individuals with disability to be involved in the decisions that affect their life, including healthcare decision making. CONCLUSIONS: Existing rights frameworks and healthcare standards confirm the importance of providing all people with the opportunities to learn and practise health literacy skills including decision making. There is little literature examining interventions for healthcare decision making for children with intellectual disability. Childhood is a critical time for the development of skills and autonomy. Evidence for how children and adolescents with intellectual disability can learn and practice healthcare decision-making skills in preparation for adulthood is needed to reduce inequities in their autonomy.

Individual-Level Risk and Resilience Factors Associated with Mental Health in Siblings of Individuals with Neurodevelopmental Conditions: A Network Analysis.

Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors. Networks of self-reported risk, resilience, and neuropsychiatric variables were estimated for siblings of individuals with (n = 235) and without (n = 480) NDCs (N = 715, mean age 22.40 years, 76% female, 74% White Caucasian). The NDC group reported more depressive (g = 0.39) and anxious (g = 0.43) symptoms than controls, and 71.5% of the NDC group reported at least one neuropsychiatric diagnosis compared to 36.9% of controls. Self-reported sleep and post-traumatic stress disorders were high amongst NDC siblings. Everyday executive functioning difficulties (cognitive inflexibility, hyperactivity/impulsivity) and emotion dysregulation were the most influential transdiagnostic risk factors for poorer functioning within the NDC group network.

Psychosocial Interventions and Support Groups for Siblings of Individuals with Neurodevelopmental Conditions: A Mixed Methods Systematic Review of Sibling Self-reported Mental Health and Wellbeing Outcomes.

Siblings of persons with neurodevelopmental conditions (NDCs) have increased risk of poorer psychosocial functioning. This systematic review evaluated quantitative and qualitative evidence on sibling mental health and wellbeing outcomes following psychosocial interventions and the risk and protective factors associated with post-intervention outcomes. From 2025 identified studies published from 1991 to 2022 across ten databases, 24 studies were included. The largest immediate post-intervention improvements were in self-esteem, social wellbeing and knowledge of NDCs. The most sustained improvements in intervention groups at follow-up periods were in emotional and behavioural adjustment and NDC knowledge. There were positive, but small, differences in favour of the intervention groups on knowledge of NDCs, self-esteem, coping and the sibling relationship as compared to waitlist control groups. Psychosocial interventions for siblings are heterogeneous, and more data, including consideration of unique family circumstances, are needed to improve reporting and replicability, to measure effectiveness and tailor necessary supports.

Participant experiences of intervention to detect and manage familial hypercholesterolaemia in Australian general practice: A qualitative descriptive study.

BACKGROUND AND OBJECTIVES: General practitioners (GPs) are ideally placed to have a much larger role in detection and management of familial hypercholesterolaemia (FH) among their patients. The aim of this study was to seek the reflections of practice staff and newly diagnosed patients with FH on the implementation of an FH model of care in the general practice setting. METHOD: Qualitative descriptive methodology was used. Interviews were conducted with 36 practice staff and 51 patients from 15 practices participating in the study. RESULTS: Data were analysed thematically and coded into themes - efficacy of GP training, screening for FH, model of care, patient awareness and cascade testing. DISCUSSION: Findings reflect the real-world clinical experience of Australian general practice and the acceptability of the model of care for both patients with FH and practice staff. Patient health literacy is a barrier to both management of FH and cascade testing. A systematic approach to cascade testing is required.

Children and adolescents are not small adults: toward a better understanding of multimorbidity in younger populations.

Multimorbidity is of an increasing importance for the health of both children and adults but research has hitherto focused on adult multimorbidity. Hence, public awareness, practice, and policy lack vital information about multimorbidity in childhood and adolescence. We convened an international and interdisciplinary group of experts from six nations to identify key priorities supported by published evidence to strengthen research for children and adolescent with multimorbidity. Future research is encouraged (1) to develop a conceptual framework to capture unique aspects of child and adolescent multimorbidity-including definitions, characteristic patterns of conditions for different age groups, its dynamic nature through childhood and adolescence, and understanding of severity and trajectories for different clusters of multiple chronic conditions, (2) to define new indices to classify the presence of multimorbidity in children and adolescents, (3) to improve the availability and linkage of data across countries, (4) to synthesize evidence on the global phenomenon of multimorbidity in childhood and adolescence and health inequalities, and (5) to involve children and adolescents in research relevant to their health.

Study protocol for a prospective process evaluation of a culturally secure rehabilitation programme for Aboriginal Australians after brain injury: the Healing Right Way project.

INTRODUCTION: Aboriginal and Torres Strait Islander (hereafter respectfully referred to as Aboriginal) people are Australia's First Peoples, having the longest continuous culture in the world and deep spiritual connections with ancestral land. Improvements in their health and well-being is a major policy goal of Australian governments, as the legacy of colonisation and disruption of cultural practices contribute to major health challenges. Lack of culturally secure services impacts participation of Aboriginal people in health services. Aboriginal people with a brain injury typically experience poor access to rehabilitation and support following hospital discharge. 'Healing Right Way' (HRW) is a randomised control trial aiming to improve access to interdisciplinary and culturally secure rehabilitation services for Aboriginal people after brain injury in Western Australia, improve health outcomes and provide the first best practice model. This protocol is for the process evaluation of the HRW trial. METHODS AND ANALYSIS: A prospective mixed methods process evaluation will use the Consolidated Framework for Implementation Research to evaluate implementation and intervention processes involved in HRW. Data collection includes qualitative and quantitative data from all sites during control and intervention phases, relating to three categories: (1) implementation of trial processes; (2) cultural security training; and (3) Aboriginal Brain Injury Coordinator role. Additional data elements collected from HRW will support the process evaluation regarding fidelity and intervention integrity. Iterative cross-sectional and longitudinal data synthesis will support the implementation of HRW, interpretation of findings and inform future development and implementation of culturally secure interventions for Aboriginal people. ETHICS AND DISSEMINATION: This process evaluation was reviewed by The University of Western Australia Human Research Ethics Committee (RA/4/20/4952). Evaluation findings will be disseminated via academic mechanisms, seminars at trial sites, regional Aboriginal health forums, peak bodies for Aboriginal health organisations and the Australian Indigenous HealthInfoNet (https://healthinfonet.ecu.edu.au/). TRIAL REGISTRATION NUMBER: ACTRN12618000139279.

Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndrome.

BACKGROUND: Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. AIMS: To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework. METHOD: Semi-structured interviews were conducted with eight families with a 12-21 year old child with PWS, four clinicians and two teachers to investigate the contexts and mechanisms associated with challenging, calm and productive behaviours. Data were analysed using directed content analysis, using TIP principles as a framework. RESULTS: Strategies to support young people with PWS aligned with the four overarching TIP Principles:Empowerment, voice and choice; Creating safe environments; Creating a collaborative environment; and Trustworthiness and transparency. Additional Novel domains included: Behavioural underpinnings, Modifying environments and Supporting family capacity. CONCLUSION: These novel domains can be used to supplement the TIP framework for guidance on how to support young people with PWS. HEALTH IMPLICATIONS: Development and implementation of strategies to reduce behavioural difficulties in young people with PWS through positive support mechanisms could improve function and social engagement within their families and communities.

A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. The pipeline ranked 21/34 previously diagnosed variants as top, with 26 in total ranked ≤7th, 3 ranked ≥13th; 5 failed the pipeline filters. Pathogenic/likely pathogenic variants by ACMG criteria were identified for 22/145 unsolved cases, and a previously undefined candidate disease variant for 27/145. This open access pipeline supports the partnership between clinical and research laboratories to improve the diagnosis of unsolved exomes. It provides a flexible framework for iterative developments to further improve diagnosis.

Prevalence estimates of mental health problems in children and adolescents with intellectual disability: A systematic review and meta-analysis.

BACKGROUND: Children and adolescents with intellectual disability are at risk of developing psychiatric symptoms and disorders; yet, the estimates reported in the literature have been inconsistent, presenting a potential barrier for service planning and delivery. Sources of variability could arise from differences in measurement instruments as well as subgroup membership by severity of intellectual disability, gender and age. This systematic review aimed to address these gaps. METHOD: MEDLINE and PsycINFO databases were searched from inception to 2018 and selected studies were reviewed. Studies were included if they reported point prevalence estimates of mental health symptomology or diagnoses in a general population of 6- to 21-year-old individuals with intellectual disability. The Joanna Briggs Institute Prevalence Critical Appraisal Checklist was applied to eligible papers to appraise their scientific strength. Pooled prevalence for mental health symptomology was determined using a random-effects meta-analysis. RESULTS: A total of 19 studies were included, including 6151 children and adolescents. The pooled prevalence estimate captured by the Developmental Behaviour Checklist was 38% (95% confidence interval = [31, 46]), contrasting with 49% (95% confidence interval = [46, 51]) captured by the Child Behaviour Checklist; both rates were higher than a non-intellectual disability population. Severity of intellectual disability did not significantly influence the Developmental Behaviour Checklist risks. Insufficient data were available to conduct statistical analyses on the effects of age, gender and socioeconomic status. Of diagnosed psychiatric disorders, attention deficit/hyperactivity disorder (30%), conduct disorder (3-21%) and anxiety disorders (7-34%) were the most prevalent conditions. CONCLUSION: This review consists of the largest sample hitherto evaluated. In the intellectual disability population, mental health comorbidities could be better detected by a symptom phenotype than a psychiatric diagnostic phenotype. Crucially, future research needs to address the effect of measurement validity in the intellectual disability population. Estimated prevalence rates were high compared to the general population, indicating the importance of systematic screening, case detection and appropriate management.

Systematic Review and Meta-analysis: Mental Health in Children With Neurogenetic Disorders Associated With Intellectual Disability.

OBJECTIVE: The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents with these disorders and compare phenotypic signatures between syndromes. METHOD: MEDLINE and PsycINFO databases were searched for articles from study inception to December 2018. Eligible articles were peer reviewed, were published in English, and reported prevalence data for psychiatric disorders and symptoms in children and adolescents aged 4 to 21 years using a formal psychiatric assessment or a standardized assessment of mental health symptoms. Pooled prevalence was determined using a random-effects meta-analysis in studies with sufficient data. Prevalence estimates were compared with general population data using a test of binomial proportions. RESULTS: Of 2,301 studies identified for review, 39 articles were included in the final pool, which provided data on 4,039 children and adolescents. Ten syndromes were represented, and five were predominant: Down syndrome, 22q11.2 deletion syndrome, fragile X syndrome, Williams syndrome, and Prader-Willi syndrome. The Child Behavior Checklist was the most commonly used assessment tool for psychiatric symptoms. The pooled prevalence with total scores above the clinical threshold was lowest for Down syndrome (32% [95% confidence interval, 19%-44%]) and highest for Prader-Willi syndrome (74% [95% CI, 65%-82%]) with each syndrome associated with significantly higher prevalence than in the general population. Parallel trends were observed for the internalizing and externalizing domains and social subscale scores. CONCLUSION: Differential vulnerability for psychiatric phenotype expression across the disorders was observed. Syndromes with higher levels of social ability or competence appear to offer relative protection against developing psychopathology. This preliminary finding merits further exploration.

The prevalence of mental health disorders and symptoms in children and adolescents with cerebral palsy: a systematic review and meta-analysis.

AIM: Mental health conditions and problems are often reported in children and adolescents with cerebral palsy (CP). A systematic review was undertaken to describe their prevalence. METHOD: MEDLINE and PsycINFO databases from 1996 to 2016 were searched and reference lists of selected studies were reviewed. Studies were included if they reported point prevalence of mental health diagnoses or symptoms in a general population of children and/or adolescents with CP. Pooled prevalence for mental health symptoms was determined using a random effects meta-analysis. RESULTS: Of the 3158 studies identified, eight met the inclusion criteria. Mental health disorders were diagnosed by psychiatric interview in one study, giving a prevalence of 57% (32 out of 56 children). The remaining seven studies (n=1715 children) used parent-report mental health screening tools. The pooled prevalence for mental health symptoms using the Strengths and Difficulties Questionnaire (n=5 studies) was 35% (95% confidence interval [CI] 20-61) and using the Child Behavior Checklist (n=2 studies) was 28% (95% CI 22-36). Evidence was characterized by a moderate level of bias. INTERPRETATION: More studies are needed to ascertain the prevalence of mental health disorders. Mental health symptoms are common and mental health evaluations should be incorporated into multidisciplinary assessments for these children. WHAT THIS PAPER ADDS: Children with cerebral palsy and intellectual disability have a higher risk of mental health symptoms. The prevalence of mental health symptoms for age and severity groups is unclear.

Assisted movement with enhanced sensation (AMES): coupling motor and sensory to remediate motor deficits in chronic stroke patients.

BACKGROUND: Conventional methods of rehabilitation in patients with chronic, severe motor impairments after stroke usually do not lessen paresis. OBJECTIVE: A novel therapeutic approach (assisted movement with enhanced sensation [AMES]) was employed in a medical device phase I clinical trial to reduce paresis and spasticity and, thereby, to improve motor function. METHODS: Twenty subjects more than 1 year poststroke with severe motor disability of the upper or lower extremity were studied. A robotic device cycled the ankle or the wrist and fingers at 5 degrees/s through +/-17.5 degrees in flexion and extension while the subject assisted this motion. Feedback of the subject's active torque was displayed on a monitor. Simultaneously, 2 vibrators applied a 60 pps stimulus to the tendons of the lengthening muscles, alternating from flexors to extensors as the joint rotation reversed from extension to flexion, respectively. Subjects treated themselves at home for 30 min/day for 6 months. Every other day prior to treatment, the therapy device performed automated tests of strength and joint positioning. Functional testing was performed prior to enrollment, immediately after completing the protocol, and 6 months later. Functional tests included gait and weight distribution (lower extremity subjects only) and the Stroke Impact Scale. RESULTS: Most subjects improved on most tests, and gains were sustained for 6 months in most subjects. No safety problems arose. CONCLUSION: The AMES strategy appears safe and possibly effective in patients with severe chronic impairments. The mechanism underlying these gains is likely to be multifactorial.

Children's posture and muscle activity at different computer display heights and during paper information technology use.

OBJECTIVE: The 3-D posture and muscle activity in the neck and upper limb were assessed in children using high-, mid-, and book-level displays, which correspond to working conditions frequently observed when children interact with computers or books and paper. BACKGROUND: The 3-D posture and muscle activity of children reading and inputting data with computers and paper had not been previously assessed. METHODS: Twenty-four children aged 10 to 12 years and of normal height performed an interactive task involving reading from a book and writing on paper or reading from a computer display and inputting data using a mouse and keyboard. RESULTS: Head and neck flexion increased as the visual target was lowered. The high display resulted in mainly upper cervical relative extension, and the book display resulted in both upper and lower cervical flexion. The book condition resulted in greater cervical erector spinae and upper trapezius activity than did the mid and high conditions. CONCLUSION: The data suggest that a mid-level display may be more appropriate for children than a high display (e.g., when the display is placed on top of the central processing unit). The mid display also results in a more upright and symmetrical posture and lower mean muscle activity than does working with books and paper flat on the desk. APPLICATION: This study provides short-term laboratory study evidence for the formulation of guidelines for workstation design and adjustment for children. Use of computers by children is increasing, yet ergonomic guidelines lag behind those for adults.

Postural muscle tone in the body axis of healthy humans.

Across the entire human body, postural tone might play its most critical role in the body's axis because the axis joins the four limbs and head into a single functioning unit during complex motor tasks as well as in static postures. Although postural tone is commonly viewed as low-level, tonic motor activity, we hypothesized that postural tone is both tonically and dynamically regulated in the human axis even during quiet stance. Our results describe the vertical distribution of postural muscle tone in the neck, trunk, and hips of standing human adults. Each subject stood blindfolded on a platform that axially rotated the neck, trunk, or pelvis at 1 degrees /s and +/-10 degrees relative to the neutral position (i.e., facing forward). The measured resistance to axial rotation was highest in the trunk and lowest in the neck and was characterized by several nonlinear features including short-range stiffness and hysteresis. In half of the subjects, axial muscle activity was relatively constant during axial rotation, and in the other half, muscle activity was modulated by lengthening and shortening reactions, i.e., decreasing activity in lengthening muscles and increasing activity in shortening muscles, respectively. Axial resistance to rotation was reduced in subjects whose muscle activity was modulated. The results indicate that axial tone is modulated sensitively and dynamically, this control originates, at least in part, from tonic lengthening and shortening reactions, and a similar type of control appears to exist for postural tone in the proximal muscles of the arm.

Illusory changes in head position induced by neck muscle vibration can alter the perception of elbow position.

Acuity for elbow joint position sense (JPS) is reduced when head position is modified. Movement of the head is associated with biomechanical changes in the neck and shoulder musculoskeletal system, which may explain changes in elbow JPS. The present study aimed to determine whether elbow JPS is also influenced by illusory changes in head position. Simultaneous vibration of sternocleidomastoid (SCM) and the contralateral splenius was applied to 14 healthy adult human subjects. Muscle vibration or passive head rotation was introduced between presentation and reproduction of a target elbow position. Ten out of 14 subjects reported illusions consistent with lengthening of the vibrated muscles. In these 10 subjects, absolute error for elbow JPS increased with left SCM/right splenius vibration but not with right SCM/left splenius vibration. Absolute error also increased with right rotation, with a trend for increased error with left rotation. These results demonstrated that both actual and illusory changes in head position are associated with diminished acuity for elbow JPS, suggesting that the influence of head position on upper limb JPS depends, at least partially, on perceived head position.