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Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Jul 2024To explore the genetic basis for a child featuring facial dysmorphism and intellectual disabilities.
OBJECTIVE
To explore the genetic basis for a child featuring facial dysmorphism and intellectual disabilities.
METHODS
A child who was diagnosed at Linyi People's Hospital on January 5 2023 due to "mental retardation" was selected as the study subject. Peripheral blood samples of the child and his parents, in addition with an amniotic fluid sample from the his mother were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members.
RESULTS
The child was found to harbor a hemizygous c.1123dupG (p.E375Gfs*4) variant of the NEXMIF gene, for which both of his parents and the fetus were of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic (PVS1+PS2-P+PM2-P). A healthy infant was subsequently born.
CONCLUSION
The hemizygous c.1123dupG (p.E375Gfs*4) variant of the NEXMIF gene probably underlay the disease in this child. Based on his clinical phenotype and genotype, the child was ultimately diagnosed with X-linked intellectual developmental disorder-98. Above finding has also enriched the mutational spectrum of the NEXMIF gene.
Topics: Humans; Male; Intellectual Disability; Mental Retardation, X-Linked; Mutation; Exome Sequencing; Genetic Testing; Female; Child; Pedigree; Infant; Child, Preschool; Nerve Tissue Proteins
PubMed: 38946365
DOI: 10.3760/cma.j.cn511374-20230530-00325 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Jul 2024To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.
OBJECTIVE
To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.
METHODS
A child who was admitted to the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.
RESULTS
The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c.3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3).
CONCLUSION
The c.3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.
Topics: Humans; Female; Epilepsy; Infant; Phenotype; Intellectual Disability; Exome Sequencing; Developmental Disabilities; Genetic Testing; Mutation, Missense
PubMed: 38946364
DOI: 10.3760/cma.j.cn511374-20230515-00288 -
Archives of Physical Medicine and... Jun 2024To retrospectively evaluate the comparative effect of two wheelchair seating systems, Custom-Contoured Wheelchair Seating (CCS) and Modular Wheelchair Seating (MWS), on...
Effect of wheelchair seating systems on scoliosis progression for children with neurological and neuromuscular disorders: a retrospective study of Custom-Contoured Wheelchair Seating and Modular Wheelchair Seating.
OBJECTIVES
To retrospectively evaluate the comparative effect of two wheelchair seating systems, Custom-Contoured Wheelchair Seating (CCS) and Modular Wheelchair Seating (MWS), on scoliosis progression in children with neuromuscular and neurological disorders and to determine any predictors for scoliosis progression.
DESIGN
Longitudinal, retrospective cohort study SETTING: National Health Service regional posture and mobility service PARTICIPANTS: Non-ambulant paediatric wheelchair users with neuromuscular and neurological disorders (N = 75; 36 male, 39 female; mean age at seating intervention, 10.50 ± 3.97 years) issued CCS and MWS by the South Wales Posture and Mobility Service from 2012 to 2022.
INTERVENTIONS
Two specialized wheelchair seating systems, CCS and MWS.
MAIN OUTCOME MEASURES
A generalized least squares (GLS) model was used to estimate the effect of seat type on Cobb angle over time.
RESULTS
Of the 75 participants enrolled, 51% had cerebral palsy. Fifty were issued CCS and 25 were issued MWS. Baseline Cobb angle was 32.9±18.9° for the MWS group and 48.0±31.0° for the CCS group. The GLS model demonstrated that time since seating intervention (χ = 122, p < .0001), seating type (χ = 52.5, p < .0001), and baseline scoliosis severity (χ = 41.6, p < .0001) were predictive of scoliosis progression. Condition was not a strong predictor (χ = 9.96, p = .0069), and sex (χ = 5.67, p = .13) and age at intervention (χ = 4.47, p = .35) were not predictive. Estimated contrasts of medical condition with seat type over time demonstrated smaller differences between MWS and CCS over time. Predicted scoliosis velocity was found to attenuate with use of CCS over time compared to MWS, although, scoliosis deteriorated regardless of intervention.
CONCLUSIONS
Our findings showed paediatric wheelchair users with neurological and neuromuscular disorders prescribed CCS showed greater mitigation of scoliosis progression over time compared to those issued MWS.
PubMed: 38944100
DOI: 10.1016/j.apmr.2024.06.007 -
Journal of Evaluation in Clinical... Jun 2024The Knowledge Translation (KT) Programme of a pan-Canadian strategic patient-oriented research network focused on brain-based developmental disabilities aimed to...
RATIONALE
The Knowledge Translation (KT) Programme of a pan-Canadian strategic patient-oriented research network focused on brain-based developmental disabilities aimed to mobilize knowledge relevant to the network members. The programme also promotes and studies integrated Knowledge Translation (iKT) approaches involving different interested parties, such as researchers, patient-partners and decision-makers, in all parts of the knowledge creation process.
AIMS AND OBJECTIVES
The objective of this study is to advance research programme evaluation methods through a realist evaluation of the process of implementing iKT activities.
METHODS
Realist process evaluation included: (1) development of initial programme theories (using the partnership synergy theory); (2) data collection and analysis; (3) synthesis and refinement of theories through engagement with literature; and (4) presentation of findings in context-mechanism-outcome (C-M-O) configurations. A range of project documentation records were reviewed for analysis, and three co-leads, a programme coordinator, and a senior research associate were consulted to contextualize the implementation process of relevant KT activities.
RESULTS
Based on the developed C-M-O configurations, we identified five key mechanisms of generating synergy in the iKT processes: (1) Visible shared leadership that embodies what iKT looks like; (2) Researchers' readiness for iKT; (3) Adaptation and flexible allocation of resources to emerging needs; (4) Power sharing to create practical and creative knowledge; and (5) Collective voice for potential transformative impacts at the policy level.
CONCLUSIONS
The current realist evaluation demonstrated how partnerships between researchers, patient-partners and other interested parties can synergistically generate new ways of thinking among all interested parties, actionable strategies to integrate users in research, and solutions to disseminate knowledge. In particular, we identified a pivotal role for patient-partners to act as equal decision-maker helps building and maintaining partnerships and consolidating KT strategies.
PubMed: 38943509
DOI: 10.1111/jep.14056 -
Journal of Autism and Developmental... Jun 2024Previous research has found that rural children are more likely to be disabled but are less likely to receive care. Both rural and disabled children were significantly...
Previous research has found that rural children are more likely to be disabled but are less likely to receive care. Both rural and disabled children were significantly impacted by the pandemic, particularly in terms of service utilization. Therefore, this study seeks to identify rural-urban differences in the prevalence of various disability indicators and in the receipt of educational and healthcare services. Data from 12,828 children aged 2-17 who participated in the 2021-2022 National Health Interview Survey (NHIS) was used to examine rural-urban differences in three different disability indicators and in education and health services utilization. Disability indicators included the Washington Group Short Set Composite Disability Indicator, a developmental disability indicator, and a neurodivergence indicator. Bivariate analysis, via Rao-Scott chi-square tests, was used to examine rural-urban disparities. Compared to their urban counterparts, rural children were more likely to have a positive Washington Group Short Set Composite Disability Indicator (14.3% vs. 10.6%) and neurodivergence indicator (17Ð.3% vs. 14.1%). Rural children with disabilities were more likely to have received prescription medication for behavioral, mental, or emotional health or concentration in the past year than urban children (34.2% vs. 25.9%). There was no rural-urban difference in the prevalence of developmental disabilities or other forms of health care use and special education participation. This report highlights the need for further investigation into underlying causes of rural-urban disparities in the prevalence of disabilities, as well as the need for continued support for programs and policies designed to support rural children with disabilities.
PubMed: 38941047
DOI: 10.1007/s10803-024-06434-y -
Journal of Child & Adolescent Trauma Jun 2024One of the challenges for mental health research is the lack of an agreed set of outcome measures that are used routinely and consistently between disciplines and across...
PURPOSE
One of the challenges for mental health research is the lack of an agreed set of outcome measures that are used routinely and consistently between disciplines and across studies in order to build a more robust evidence base for how to better understand young people's mental health and effectively address diverse needs.
METHODS
This study involved a scoping review of reviews on consensus of the use of mental health and wellbeing measures with children and young people. We were particularly interested to identify if there are differences in measures that are recommended for children and young people with care experience including those with developmental disabilities.
FINDINGS
We identified 41 reviews, of which two had a focus on child welfare settings, three on childhood trauma and 14 focused on children and young people with developmental disabilities. Overall, our review highlights a lack of consensus and a diversity of measures within the field. We identified 60 recommended measures, of which only nine were recommended by more than one review.
CONCLUSIONS
Our review highlights the need for greater agreement in the use of mental health outcome measures. While our review highlights that there is value in identifying measures that can be used with any child or young person, researchers need to take into account additional considerations when working with children and young people with care experience and those with developmental disabilities, to ensure measures are accessible and sensitive to their life experiences.
PubMed: 38938951
DOI: 10.1007/s40653-023-00566-6 -
Journal of Applied Research in... Sep 2024Previous research identifies organisational culture as one of a number of factors associated with the quality of life outcomes of group home residents' with intellectual...
BACKGROUND
Previous research identifies organisational culture as one of a number of factors associated with the quality of life outcomes of group home residents' with intellectual and developmental disabilities. This study aims to elaborate on the dimensions of group home culture in settings in England.
METHOD
Participant observations and semi-structured interviews with staff were carried out in two group homes. Field-notes, interview notes and transcripts were analysed using inductive thematic analysis by a researcher naïve to the project and the previous literature. Initial coding was re-examined after sensitisation to theorised models in previous literature to identify the most parsimonious fit. The two settings were rated and compared using a five-point Likert scale for each of the dimensions.
RESULTS
The findings describe group home culture across seven dimensions. There were mixed ratings across the different dimensions reflecting inconsistencies in culture that were reflected in staff practice. The challenge in assigning a global rating of culture in group homes, which includes interactions across multiple staff and multiple residents over time, was highlighted.
CONCLUSION
The development of an observational measure of culture is highlighted as potentially helpful in understanding and responding to culture in services for individuals with intellectual and developmental disabilities.
Topics: Humans; Intellectual Disability; Group Homes; Developmental Disabilities; England; Qualitative Research; Adult; Organizational Culture; Male; Female; Middle Aged
PubMed: 38937881
DOI: 10.1111/jar.13270 -
Journal of the American Dental... Jun 2024People with special health care needs in long-term care settings have difficulty accessing a traditional dental office. The goal of the authors was to assess initial...
BACKGROUND
People with special health care needs in long-term care settings have difficulty accessing a traditional dental office. The goal of the authors was to assess initial treatment decision concordance between dentists conducting traditional in-person examinations using mobile equipment and additional dentists conducting examinations using asynchronous teledentistry technology.
METHODS
Six dentists from Access Dental Care, a North Carolina mobile dentistry nonprofit, saw new patients on-site at 12 participating facilities or asynchronously off-site with electronic dental records, radiographs, and intraoral images, all captured by an on-site dental hygienist. Off-site dentists were masked to other dentists' treatment need decisions; 3 through 5 off-site examinations were conducted for each on-site examination. Demographic and binary treatment need category data were collected. For the 3 most prevalent treatment types needed (surgery, restorative, and new removable denture), the authors calculated the percentage agreement and κ statistics with bootstrapped CIs (1,000 replicates).
RESULTS
The 100 enrolled patients included 47 from nursing homes, 45 from Programs of All-Inclusive Care for the Elderly, and 8 from group homes for those with intellectual and developmental disabilities. Mean (SD) age was 73.9 (16.5) years. Among dentate participants, the percentage agreement and bootstrapped κ (95% CI) were 87% and 0.74 (0.70 to 0.78) for surgery and 78% and 0.54 (0.50 to 0.58) for restorative needs, respectively, and among dentate and edentulous participants, they were 94% and 0.78 (0.74 to 0.83), respectively, for new removable dentures.
CONCLUSIONS
The authors assessed the initial dental treatment decision concordance between on-site dentists conducting in-person examinations with a mobile oral health care delivery model and off-site dentists conducting examinations with asynchronous dentistry. Concordance was substantial for surgery and removable denture treatment decisions and moderate for restorative needs. Patient characteristics and facility type were not significant factors in the levels of examiner agreement.
PRACTICAL IMPLICATIONS
This evidence supports teledentistry use for patients with special health care needs and could help improve their access to oral health care.
PubMed: 38934969
DOI: 10.1016/j.adaj.2024.05.004 -
Children (Basel, Switzerland) Jun 2024Valid and reliable developmental screening and assessment tools allow professionals to identify disabilities/delays in children, enabling timely intervention to limit... (Review)
Review
Valid and reliable developmental screening and assessment tools allow professionals to identify disabilities/delays in children, enabling timely intervention to limit adverse lifelong impacts on health. However, differences in child development related to culture, genetics, and perinatal outcomes may impact tool applicability. This study evaluated the validity, reliability, and accessibility of multidomain developmental screening tools for young children, analyzed the applicability of tools across different contexts, and created a compendium of tools. Employing adapted realist review methods, we searched APA PsycInfo, MEDLINE, CINAHL, ERIC, and Google to identify relevant articles and information. We assessed accessibility, validity, reliability, and contextual applicability (N = 4110 evidence sources) to create tool ratings and make recommendations. Of 33 identified tools, 22 were screening and 11 were assessment tools. Fewer screening tools than assessment tools were rated highly overall. Evidence for use in different cultures was often lacking for both types of tools. The ASQ (screening) and BDI (assessment) tools were rated most favorably and are recommended for use, though other tools may be more applicable in different contexts (e.g., NEPSY among children with Asperger's Syndrome). Future research should focus on assessing the validity and reliability of tools across different demographics to increase accessibility and ensure all children are properly supported.
PubMed: 38929324
DOI: 10.3390/children11060745 -
Children (Basel, Switzerland) Jun 2024Families of children with intellectual and developmental disabilities often face unique challenges that significantly impact their quality of life. Understanding the...
UNLABELLED
Families of children with intellectual and developmental disabilities often face unique challenges that significantly impact their quality of life. Understanding the predictors of family quality of life (FQOL) is crucial for developing effective support systems and interventions.
AIM
This study investigated the predictors that might influence the perception of families having a member with a disability regarding their quality of life (FQOL).
METHOD
The sample consisted of 320 family members from the Riyadh region of Saudi Arabia.
RESULTS
The overall results showed that participants' satisfaction with FQOL was at a moderate level. Further results indicated that variables associated with severity, type of disability, and the mother's age and education were significant predictors of the FQOL.
CONCLUSIONS
These results emphasize the importance of considering the variables that impact FQOL, such as the severity and type of disability, and mother's related variables, when directing support to families with a member with a disability. The recommendations and limitations of the study were discussed.
PubMed: 38929313
DOI: 10.3390/children11060734