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BMC Medical Genomics Jul 2024This research analyzes the clinical data, whole-exome sequencing results, and in vitro minigene functional experiments of a child with developmental delay and...
This research analyzes the clinical data, whole-exome sequencing results, and in vitro minigene functional experiments of a child with developmental delay and intellectual disability. The male patient, aged 4, began experiencing epileptic seizures at 3 months post-birth and has shown developmental delay. Rehabilitation training was administered between the ages of one and two. There were no other significant family medical histories. Through comprehensive family exome genetic testing, a hemizygous variant in the 11th exon of the OPHN1 gene was identified in the affected child: c.1025 + 1G > A. Family segregation analysis confirmed the presence of this variant in the patient's mother, which had not been previously reported. According to the ACMG guidelines, this variant was classified as a likely pathogenic variant. In response to this variant, an in vitro minigene functional experiment was designed and conducted, confirming that the mutation affects the normal splicing of the gene's mRNA, resulting in a 56 bp retention on the left side of Intron 11. It was confirmed that OPHN1: c.1025 + 1G > A is the pathogenic cause of X-linked intellectual disabilities in the child, with clinical phenotypes including developmental delay and seizures.
Topics: Humans; Male; RNA Splicing; Child, Preschool; Intellectual Disability; Nuclear Proteins; Cytoskeletal Proteins; GTPase-Activating Proteins; Developmental Disabilities; Pedigree; Mutation; Exome Sequencing
PubMed: 38956616
DOI: 10.1186/s12920-024-01952-1 -
Journal of Neuroscience Research Jul 2024Traumatic brain injury (TBI) is a condition that occurs commonly in children from infancy through adolescence and is a global health concern. Pediatric TBI presents with... (Review)
Review
Traumatic brain injury (TBI) is a condition that occurs commonly in children from infancy through adolescence and is a global health concern. Pediatric TBI presents with a bimodal age distribution, with very young children (0-4 years) and adolescents (15-19 years) more commonly injured. Because children's brains are still developing, there is increased vulnerability to the effects of head trauma, which results in entirely different patterns of injury than in adults. Pediatric TBI has a profound and lasting impact on a child's development and quality of life, resulting in long-lasting consequences to physical, cognitive, and emotional development. Chronic issues like learning disabilities, behavioral problems, and emotional disturbances can develop. Early intervention and ongoing support are critical for minimizing these long-term deficits. Many animal models of TBI exist, and each varies significantly, displaying different characteristics of clinical TBI. The neurodevelopment differs in the rodent from the human in timing and effect, so TBI outcomes in the juvenile rodent can thus vary from the human child. The current review compares findings from preclinical TBI work in juvenile and adult rodents to clinical TBI research in pediatric and adult humans. We focus on the four brain regions most affected by TBI: the prefrontal cortex, corpus callosum, hippocampus, and hypothalamus. Each has its unique developmental projections and thus is impacted by TBI differently. This review aims to compare the healthy neurodevelopment of these four brain regions in humans to the developmental processes in rodents.
Topics: Brain Injuries, Traumatic; Humans; Animals; Child; Disease Models, Animal; Adult; Adolescent; Rodentia; Brain; Child, Preschool
PubMed: 38953607
DOI: 10.1002/jnr.25364 -
Frontiers in Nutrition 2024The objective of this study was to assess the global burden of disease for developmental and intellectual disabilities caused by iodine deficiency from 1990 to 2019.
The global burden, trends, and inequalities of individuals with developmental and intellectual disabilities attributable to iodine deficiency from 1990 to 2019 and its prediction up to 2030.
OBJECTIVE
The objective of this study was to assess the global burden of disease for developmental and intellectual disabilities caused by iodine deficiency from 1990 to 2019.
METHODS
Using data from the global burden of disease (GBD) 2019, we conducted a cross-country inequity analysis to examine the worldwide burden of developmental and intellectual disabilities caused by the issue of iodine deficiency from 1990 to 2019. Absolute and relative inequality were assessed by the slope index of inequality and the concentration index, respectively. After summarising the latest evidence, we also projected the age-standardized prevalence and years lived with disability (YLD) rates up to 2030 using the BAPC and INLA packages in R statistical software.
RESULTS
In 2019, the global age-standardized prevalence and YLD rates for developmental and intellectual disabilities due to iodine deficiency were 22.54 per 100,000 population (95% UI 14.47 to 29.23) and 4.12 per 100,000 population (95% UI 2.25 to 6.4), respectively. From 1990 to 2019, the age-standardized prevalence and YLD rates of developmental and intellectual disabilities due to iodine deficiency decreased significantly. Geographic distribution showed that areas with lower socio-demographic indices (SDI) were the most affected. The correlation between higher SDI and lower prevalence highlights the role of economic and social factors in the prevalence of the disease. Cross-national inequity analysis shows that disparities persist despite improvements in health inequalities. In addition, projections suggest that the disease burden may decline until 2030.
CONCLUSION
This research underscores the necessity for targeted interventions, such as enhancing iodine supplementation and nutritional education, especially in areas with lower SDI. We aim to provide a foundation for policymakers further to research effective preventative and potential alternative treatment strategies.
PubMed: 38953045
DOI: 10.3389/fnut.2024.1366525 -
Journal of Autism and Developmental... Jun 2024People with intellectual and developmental disabilities (IDD) often have higher rates of comorbid mental health conditions compared to the general population. Yet, many...
People with intellectual and developmental disabilities (IDD) often have higher rates of comorbid mental health conditions compared to the general population. Yet, many people with IDD also have unmet needs for mental and behavioral health services. The aim of this study was to examine how states provided mental and behavior health, and crisis services to people with IDD in their Home- and Community-Based Services (HCBS) programs, the largest funding mechanism for Long-Term Services and Supports (LTSS) for people with IDD in the United States. We analyzed fiscal year (2021) Medicaid HCBS waivers for people with IDD from across the United States to examine if and how they provided mental and behavior health, and crisis services. States projected spending $968.9 million for mental and behavior health, and crisis services for 190,299 people with IDD. Applied behavior analysis services were provided at greater rates than positive behavior supports and other forms of behavior interventions. While most states provided mental and behavior health, and crisis services in their waivers, there were vast inconsistencies in how they did so, across states, waivers, and services. HCBS are a crucial safety net to ensure people with IDD, especially those who also have mental health disabilities, can live and thrive in their communities.
PubMed: 38951311
DOI: 10.1007/s10803-024-06441-z -
Journal of Family Medicine and Primary... May 2024The role of caregivers in grooming the neuro-developmental outcome of high-risk newborns and developmental challenges in children needs to be explored.
BACKGROUND
The role of caregivers in grooming the neuro-developmental outcome of high-risk newborns and developmental challenges in children needs to be explored.
OBJECTIVES
To find the knowledge and perception among parents regarding the neuro-developmental outcome of high-risk newborns, methods adopted to address these problems, and to identify areas on which awareness generation needs to focus.
MATERIALS AND METHODS
A questionnaire-based awareness survey was conducted to understand the knowledge, attitude, and practices of families of children with developmental challenges.
RESULTS
The study revealed that more than 70 percent of families lack information about child development, developmental challenges, and means to deal with them. They are unaware of the available health care services and other resources. One in three families has misconceptions on developmental disabilities; consider them as curse or jinx and consequently neglected. Female children with developmental problems are further ostracized due to gender inequity in families. About 10 percent of families have shown great openness toward acquiring new skills and knowledge for handling their children with developmental delays.
CONCLUSIONS
This study is based on the précis research findings of our grass-root level fieldwork conducted in remote rural Bengal areas. The observation will be of interest and learning materials for general primary care practitioners, family physicians, and stakeholders to initiate appropriate intervention strategies for properly rehabilitating children with developmental delay at grass-root levels of primary health care.
PubMed: 38948571
DOI: 10.4103/jfmpc.jfmpc_1780_23 -
Frontiers in Psychiatry 2024Forensic psychiatric patients receive treatment to address their violent and aggressive behavior with the aim of facilitating their safe reintegration into society. On...
INTRODUCTION
Forensic psychiatric patients receive treatment to address their violent and aggressive behavior with the aim of facilitating their safe reintegration into society. On average, these treatments are effective, but the magnitude of effect sizes tends to be small, even when considering more recent advancements in digital mental health innovations. Recent research indicates that wearable technology has positive effects on the physical and mental health of the general population, and may thus also be of use in forensic psychiatry, both for patients and staff members. Several applications and use cases of wearable technology hold promise, particularly for patients with mild intellectual disability or borderline intellectual functioning, as these devices are thought to be user-friendly and provide continuous daily feedback.
METHOD
In the current randomized crossover trial, we addressed several limitations from previous research and compared the (continuous) usability and acceptance of four selected wearable devices. Each device was worn for one week by staff members and patients, amounting to a total of four weeks. Two of the devices were general purpose fitness trackers, while the other two devices used custom made applications designed for bio-cueing and for providing insights into physiological reactivity to daily stressors and events.
RESULTS
Our findings indicated significant differences in usability, acceptance and continuous use between devices. The highest usability scores were obtained for the two fitness trackers (Fitbit and Garmin) compared to the two devices employing custom made applications (Sense-IT and E4 dashboard). The results showed similar outcomes for patients and staff members.
DISCUSSION
None of the devices obtained usability scores that would justify recommendation for future use considering international standards; a finding that raises concerns about the adaptation and uptake of wearable technology in the context of forensic psychiatry. We suggest that improvements in gamification and motivational aspects of wearable technology might be helpful to tackle several challenges related to wearable technology.
PubMed: 38947186
DOI: 10.3389/fpsyt.2024.1330993 -
Journal of Women's Health (2002) Jul 2024Individuals with disabilities may require specific medications in pregnancy. The prevalence and patterns of medication use, overall and for medications with known...
Individuals with disabilities may require specific medications in pregnancy. The prevalence and patterns of medication use, overall and for medications with known teratogenic risks, are largely unknown. This population-based cohort study in Ontario, Canada, 2004-2021, comprised all recognized pregnancies among individuals eligible for public drug plan coverage. Included were those with a physical ( = 44,136), sensory ( = 13,633), intellectual or developmental ( = 2,446) disability, or multiple disabilities ( = 5,064), compared with those without a disability ( = 299,944). Prescription medication use in pregnancy, overall and by type, was described. Modified Poisson regression generated relative risks (aRR) for the use of medications with known teratogenic risks and use of ≥2 and ≥5 medications concurrently in pregnancy, comparing those with versus without a disability, adjusting for sociodemographic and clinical factors. Medication use in pregnancy was more common in people with intellectual or developmental (82.1%), multiple (80.4%), physical (73.9%), and sensory (71.9%) disabilities, than in those with no known disability (67.4%). Compared with those without a disability (5.7%), teratogenic medication use in pregnancy was especially higher in people with multiple disabilities (14.2%; aRR 2.03, 95% confidence interval [CI]: 1.88-2.20). Furthermore, compared with people without a disability (3.2%), the use of ≥5 medications concurrently was more common in those with multiple disabilities (13.4%; aRR 2.21, 95% CI: 2.02-2.41) and an intellectual or developmental disability (9.3%; aRR 2.13, 95% CI: 1.86-2.45). Among people with disabilities, medication use in pregnancy is prevalent, especially for potentially teratogenic medications and polypharmacy, highlighting the need for preconception counseling/monitoring to reduce medication-related harm in pregnancy.
PubMed: 38946624
DOI: 10.1089/jwh.2023.1138 -
Progress in Community Health... 2024People with intellectual and developmental disabilities (IDD) are at high risk for unmet health care needs and face barriers to equitable care, yet few health...
BACKGROUND
People with intellectual and developmental disabilities (IDD) are at high risk for unmet health care needs and face barriers to equitable care, yet few health professions students receive adequate training to meet these needs.
OBJECTIVES
An interactive panel discussion with Special Olympics Pennsylvania (SOPA) athletes and staff was planned and implemented so that health professions students/trainees would gain knowledge of IDD, health barriers, SOPA resources, and volunteer opportunities.
METHODS
Panelists included two SOPA athletes and their mentors; questions solicited responses about personal health care experiences (Fall 2019). Attendees completed a mixed-methods post-event survey capturing event satisfaction, reflections, and interest in learning more about patients with IDD.
RESULTS
Sixty individuals attended, and 43 (72%) completed post-event evaluation. Attendees reported high satisfaction (88%), desire for future trainings (100%), and interest in learning about communicating (88%), providing care (88%), and addressing IDD health barriers (91%).
CONCLUSIONS
Collaborative community panels could be effective in engaging health care students in discussion about caring for patients with IDD.
Topics: Humans; Female; Male; Disabled Persons; Pennsylvania; Developmental Disabilities; Community-Based Participatory Research; Intellectual Disability; Adult
PubMed: 38946570
DOI: No ID Found -
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