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Open Access Emergency Medicine : OAEM 2024The objective of this review was to explore parents' experiences and information needs regarding management of their child with an intellectual and/or developmental... (Review)
Review
Seeking Care for Children with Intellectual and/or Developmental Disabilities in the Emergency Department: A Mixed Methods Systematic Review of Parents' Experiences and Information Needs.
The objective of this review was to explore parents' experiences and information needs regarding management of their child with an intellectual and/or developmental disability (IDD) in the emergency department (ED). We searched six electronic databases and grey literature to identify primary studies in English published since 2000. We synthesized quantitative and qualitative outcome data simultaneously using a convergent integrated approach and used a Mixed Methods Appraisal Tool (MMAT) to assess methodological quality of the included studies. Nine articles derived from seven studies were included (3 qualitative, 3 quantitative, 1 mixed method). Four main themes related to parents' self-reported experiences were identified: 1) appropriateness of the ED to manage and support their child; 2) acknowledgement/recognition of their child's IDD and incorporation of those considerations into overall care and management; 3) managing and navigating the ED environment; and 4) decision to disclose their child's condition when visiting the ED. Two articles provided data relevant to information needs, highlighting parents' desire to have resources supporting ED orientation and access to services within and outside of the ED setting. From the limited number of studies, it was evident that parents wanted better communication with healthcare providers and a greater understanding by ED staff around physical space settings needed to support their child. Resources supporting ED staff and parents to communicate effectively and work together can ensure that children with IDDs care needs are met. Further research into understanding parents' experiences and information needs related to managing a child with an IDD in the ED is needed to guide the development of effective resources.
PubMed: 38912093
DOI: 10.2147/OAEM.S450191 -
BMC Psychology May 2024Previous research has suggested that the core features of autism spectrum disorders (ASD) may contribute to offending behaviours and increased vulnerability within the...
Previous research has suggested that the core features of autism spectrum disorders (ASD) may contribute to offending behaviours and increased vulnerability within the Criminal Justice System. To date, there is a paucity of evidence assessing the effectiveness of interventions for offending behaviour in adults with ASD but without co-occurring intellectual disability (ID) across a broad range of forensic settings. The lack of robust evidence is concerning, as limited effectiveness may contribute to an increased likelihood of prolonged incarceration, particularly in the most restrictive settings. A PRISMA systematic review was conducted with a narrative synthesis to: (a) evaluate the evidence of the effectiveness of interventions aimed at reducing recidivism, (b) assess whether the core features of ASD impact the effectiveness of these interventions, and (c) identify additional factors that may affect the effectiveness of interventions within this population. Seven studies involving ten male participants were identified. The findings suggest that interventions for offending behaviours in adults with ASD without intellectual disability (ID) are largely inadequate, and that core ASD features need to be considered. Additionally, a complex interplay of risk factors potentially impacting intervention effectiveness was suggested. Limitations include heterogeneity across intervention types, measures of effectiveness, and what constitutes effectiveness. Despite the limited number of studies and data quality, the review aligns with a growing body of literature highlighting vulnerability and a need for evidence-based interventions for people with ASD. The review also discusses the broader implications of ineffective interventions.
Topics: Humans; Autism Spectrum Disorder; Criminals; Adult; Male; Recidivism
PubMed: 38816780
DOI: 10.1186/s40359-024-01770-1 -
International Journal of Molecular... May 2024The gene encodes an orphan transcription factor of the steroid-thyroid hormone-retinoid receptor superfamily. This review focuses on the clinical findings associated... (Review)
Review
The gene encodes an orphan transcription factor of the steroid-thyroid hormone-retinoid receptor superfamily. This review focuses on the clinical findings associated with the pathogenic variants so far reported, including three unreported cases. Also, its role in neurodegenerative diseases, such as Parkinson's or Alzheimer's disease, is examined, as well as a brief exploration on recent proposals to develop novel therapies for these neurological diseases based on small molecules that could modulate transcriptional activity. The main characteristic shared by all patients is mild to severe developmental delay/intellectual disability. Moderate to severe disorder of the expressive and receptive language is present in at least 42%, while neuro-psychiatric issues were reported in 53% of patients. Movement disorders, including dystonia, chorea or ataxia, are described in 37% patients, although probably underestimated because of its frequent onset in late adolescence-young adulthood. Finally, epilepsy was surprisingly present in 42% of patients, being drug-resistant in three of them. The age at onset varied widely, from five months to twenty-six years, as did the classification of epilepsy, which ranged from focal epilepsy to infantile spasms or Lennox-Gastaut syndrome. Accordingly, we propose that should be considered as a first-tier target gene for the genetic diagnosis of developmental and epileptic encephalopathy.
Topics: Humans; Epilepsy; Nuclear Receptor Subfamily 4, Group A, Member 2; Developmental Disabilities; Intellectual Disability
PubMed: 38791237
DOI: 10.3390/ijms25105198 -
Children (Basel, Switzerland) Apr 2024CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as... (Review)
Review
CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as long QT syndrome, Brugada syndrome and Timothy syndrome. Recent evidence has suggested the possible association between CACNA1C mutations and neurologically-isolated (in absence of cardiac involvement) phenotypes in children, giving birth to a wider spectrum of CACNA1C-related clinical presentations. However, to date, little is known about the variety of both neurological and non-neurological signs/symptoms in the neurologically-predominant phenotypes. We conducted a systematic review of neurologically-predominant presentations without cardiac conduction defects, associated with CACNA1C mutations. We also reported a novel de novo missense pathogenic variant in the CACNA1C gene of a children patient presenting with constructional, dressing and oro-buccal apraxia associated with behavioral abnormalities, mild intellectual disability, dental anomalies, gingival hyperplasia and mild musculoskeletal defects, without cardiac conduction defects. The present study highlights the importance of considering the investigation of the CACNA1C gene in children's neurological isolated syndromes, and expands the phenotype of the CACNA1C related conditions. In addition, the present study highlights that, even in absence of cardiac conduction defects, nuanced clinical manifestations of the Timothy syndrome (e.g., dental and gingival defects) could be found. These findings suggest the high variable expressivity of the CACNA1C gene and remark that the absence of cardiac involvement should not mislead the diagnosis of a CACNA1C related disorder.
PubMed: 38790536
DOI: 10.3390/children11050541 -
Neurology Jun 2024Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic...
BACKGROUND AND OBJECTIVES
Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic neurodevelopmental disorders (RGNDs). In this review, a comprehensive overview is provided of reports on dementia and cognitive/adaptive trajectories in adults with RGNDs.
METHODS
A systematic literature review was conducted in Embase, Medline ALL, and PsycINFO on December 6, 2022. The protocol was registered in PROSPERO (CRD42021223041). Search terms for dementia, cognitive and adaptive functioning, and RGNDs were combined using generic terms and the Orphanet database. Study characteristics and descriptive data on genetic diagnosis, clinical and neuropathologic features, comorbidities, and diagnostic methods were extracted using a modified version of the Cochrane Data Extraction Template.
RESULTS
The literature search yielded 40 publications (17 cohorts, 23 case studies) describing dementia and/or cognitive or adaptive trajectories in adults with 14 different RGNDs. Dementia was reported in 49 individuals (5 cohorts, 20 cases) with a mean age at onset of 44.4 years. Diagnostics were not disclosed for half of the reported individuals (n = 25/49, 51.0%). A total of 44 different psychodiagnostic instruments were used. MRI was the most reported additional investigation (n = 12/49, 24.5%). Comorbid disorders most frequently associated with cognitive/adaptive decline were epilepsy, psychotic disorders, and movement disorders.
DISCUSSION
Currently available literature shows limited information on aging in RGNDs, with relatively many reports of young-onset dementia. Longitudinal data may provide insights into converging neurodevelopmental degenerative pathways. We provide recommendations to optimize dementia screening, diagnosis, and research.
Topics: Humans; Dementia; Neurodevelopmental Disorders; Rare Diseases; Adult
PubMed: 38759134
DOI: 10.1212/WNL.0000000000209413 -
PloS One 2024Non-invasive prenatal testing (NIPT) is a widely adopted maternal blood test that analyses foetal originating DNA to screen for foetal chromosomal conditions, including... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Non-invasive prenatal testing (NIPT) is a widely adopted maternal blood test that analyses foetal originating DNA to screen for foetal chromosomal conditions, including Down's syndrome (DS). The introduction of this test, which may have implications for important decisions made during pregnancy, requires continual monitoring and evaluation. This systematic review aims to assess the extent of NIPT introduction into national screening programmes for DS worldwide, its uptake, and impact on pregnancy outcomes.
METHODS AND FINDINGS
The study protocol was published in PROSPERO (CRD42022306167). We systematically searched MEDLINE, CINAHL, Scopus, and Embase for population-based studies, government guidelines, and Public Health documents from 2010 onwards. Results summarised the national policies for NIPT implementation into screening programmes geographically, along with population uptake. Meta-analyses estimated the pooled proportions of women choosing invasive prenatal diagnosis (IPD) following a high chance biochemical screening result, before and after NIPT was introduced. Additionally, we meta-analysed outcomes (termination of pregnancy and live births) amongst high chance pregnancies identified by NIPT. Results demonstrated NIPT implementation in at least 27 countries. Uptake of second line NIPT varied, from 20.4% to 93.2% (n = 6). Following NIPT implementation, the proportion of women choosing IPD after high chance biochemical screening decreased from 75% (95% CI 53%, 88%, n = 5) to 43% (95%CI 31%, 56%, n = 5), an absolute risk reduction of 38%. A pooled estimate of 69% (95% CI 52%, 82%, n = 7) of high chance pregnancies after NIPT resulted in termination, whilst 8% (95% CI 3%, 21%, n = 7) had live births of babies with DS.
CONCLUSIONS
NIPT has rapidly gained global acceptance, but population uptake is influenced by healthcare structures, historical screening practices, and cultural factors. Our findings indicate a reduction in IPD tests following NIPT implementation, but limited pre-NIPT data hinder comprehensive impact assessment. Transparent, comparable data reporting is vital for monitoring NIPT's potential consequences.
Topics: Humans; Down Syndrome; Female; Pregnancy; Noninvasive Prenatal Testing; Prenatal Diagnosis; Pregnancy Outcome
PubMed: 38753891
DOI: 10.1371/journal.pone.0298643 -
International Journal of Nursing... Dec 2023Snoezelen focuses on multisensory stimulation in an adapted environment and was originally developed for people with severe and profound intellectual (and multiple)... (Review)
Review
BACKGROUND
Snoezelen focuses on multisensory stimulation in an adapted environment and was originally developed for people with severe and profound intellectual (and multiple) disabilities. Snoezelen has been used for many years with various target groups and for different purposes. Variation in its application has resulted in a lack of understanding of snoezelen's application characteristics and of how they may relate to effects.
OBJECTIVE
The aim of this review was to provide an overview of the application and effects of snoezelen in people with intellectual disability or dementia in order to analyse the relationship between application characteristics and effects.
DESIGN
A systematic review.
METHODS
Five databases were searched for snoezelen studies that took place in a specially adapted environment. The methodological quality of the included studies was assessed using the Mixed Methods Appraisal Tool. The application characteristics (that is, the stimuli used, environment, and support given) and the effects were extracted. Reported effects were categorized into different human functioning dimensions using the model of intellectual disabilities of the American Association on Intellectual and Developmental Disabilities.
RESULTS
In total, 62 studies involving people with intellectual disability ( = 30) or dementia ( = 32) were included. An overview of snoezelen used in other target groups ( = 24) is provided as supplementary material. Details on the application of snoezelen were often lacking. A total of 10 application characteristics (for example, frequency, role of the support person) were extracted. All studies reported the presence of a support person ( = 62; 100%). Effects were found in all five human functioning dimensions. The most-reported effects (61.3% overall) related to mental health, such as a reduction in challenging behaviour and improved mood. In a minority of studies ( = 10, 16.1%), effects on the support person were also reported. Due to limited details about the application of snoezelen and the large variation in measured effects, analysing the relationship between these was impossible.
CONCLUSIONS
The majority of studies lacked details on application characteristics during snoezelen. Reported effects varied, although most related to mental health. Future research should analyse in detail the relationship between application and effects.
PubMed: 38746578
DOI: 10.1016/j.ijnsa.2023.100152 -
Clinical Psychology Review Jun 2024Behaviours that challenge (BtC) are common in people with intellectual disability (ID) and associated with negative long-term outcomes. Reliable characterisation of BtC... (Meta-Analysis)
Meta-Analysis Review
Measurement tools for behaviours that challenge and behavioural function in people with intellectual disability: A systematic review and meta-analysis of internal consistency, inter-rater reliability, and test-retest reliability.
Behaviours that challenge (BtC) are common in people with intellectual disability (ID) and associated with negative long-term outcomes. Reliable characterisation of BtC and behavioural function is integral to person-centred interventions. This systematic review and meta-analytic study quantitatively synthesised the evidence-base for the internal consistency, inter-rater reliability, and test-retest reliability of measures of BtC and behavioural function in people with ID (PROSPERO: CRD42021239042). Web of Science, Embase, PsycINFO and MEDLINE were searched from inception to March 2024. Retrieved records (n = 3691) were screened independently to identify studies assessing eligible measurement properties in people with ID. Data extracted from 83 studies, across 29 measures, were synthesised in a series of random-effects meta-analyses. Subgroup analyses assessed the influence of methodological quality and study-level characteristics on pooled estimates. COSMIN criteria were used to evaluate the measurement properties of each measure. Pooled estimates ranged across measures: internal consistency (0.41-0.97), inter-rater reliability (0.29-0.93) and test-retest reliability (0.52-0.98). The quantity and quality of evidence varied substantially across measures; evidence was frequently unavailable or limited to a single study. Based on current evidence, candidate measures with the most evidence for internal consistency and reliability are discussed; however, continued assessment of measurement properties in ID populations is a key priority.
Topics: Humans; Intellectual Disability; Reproducibility of Results; Psychometrics
PubMed: 38718632
DOI: 10.1016/j.cpr.2024.102434 -
Cancer Medicine May 2024People with intellectual disabilities (ID) face barriers in cancer care contributing to poorer oncological outcomes. Yet, understanding cancer risks in the ID population... (Review)
Review
BACKGROUND
People with intellectual disabilities (ID) face barriers in cancer care contributing to poorer oncological outcomes. Yet, understanding cancer risks in the ID population remains incomplete.
AIM
To provide an overview of cancer incidence and cancer risk assessments in the entire ID population as well as within ID-related disorders.
METHODS
This systematic review examined cancer risk in the entire ID population and ID-related disorders. We systematically searched PubMed (MEDLINE) and EMBASE for literature from January 1, 2000 to July 15, 2022 using a search strategy combining terms related to cancer, incidence, and ID.
RESULTS
We found 55 articles assessing cancer risks in the ID population at large groups or in subgroups with ID-related syndromes, indicating that overall cancer risk in the ID population is lower or comparable with that of the general population, while specific disorders (e.g., Down's syndrome) and certain genetic mutations may elevate the risk for particular cancers.
DISCUSSION
The heterogeneity within the ID population challenges precise cancer risk assessment at the population level. Nonetheless, within certain subgroups, such as individuals with specific ID-related disorders or certain genetic mutations, a more distinct pattern of varying cancer risks compared to the general population becomes apparent.
CONCLUSION
More awareness, and personalized approach in cancer screening within the ID population is necessary.
Topics: Humans; Intellectual Disability; Neoplasms; Risk Assessment; Incidence; Risk Factors; Early Detection of Cancer
PubMed: 38686623
DOI: 10.1002/cam4.7210 -
Behavioral Sciences (Basel, Switzerland) Apr 2024Children and adolescents with intellectual disabilities (ID) often encounter difficulties with narrative skills. Yet, there is a lack of research focusing on how to... (Review)
Review
Children and adolescents with intellectual disabilities (ID) often encounter difficulties with narrative skills. Yet, there is a lack of research focusing on how to assess these skills in this population. This study offers an overview of the tools used for assessing oral narrative skills in children and adolescents with ID, addressing key questions about common assessment tools, their characteristics, and reported evidence. A systematic review was conducted of the literature published between 2010 and 2023 in the PsycINFO, ERIC, Education, and Psychology databases. An initial 1176 studies were reviewed by abstract, of which 485 were read in full text, leading to the selection and analysis of 22 studies. Most of the identified tools involve analyzing language samples obtained using wordless picture story books. Three common tools are emphasized. Studies have primarily identified inter-rater reliability and test-criterion evidence for validity. The main tools and their characteristics are discussed in depth to aid readers in discerning suitable options for research or practical applications. The importance of reporting diverse sources of evidence for validity and reliability within this population is highlighted.
PubMed: 38667104
DOI: 10.3390/bs14040308