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Clinical Neurology and Neurosurgery Jul 2023To report the diagnostic yield of clinical singleton whole exome sequencing (WES) performed among a group of Jordanian children presenting with global developmental...
AIMS
To report the diagnostic yield of clinical singleton whole exome sequencing (WES) performed among a group of Jordanian children presenting with global developmental delay /intellectual disability (GDD/ID), discuss the underlying identified genetic disorders and the challenges encountered.
PATIENTS AND METHODS
This retrospective medical record review study included 154 children who were diagnosed with GDD/ID at our clinic at Jordan University Hospital between 2016 and 2021, and whose diagnostic work up included WES.
RESULTS
Consanguinity among parents was reported in 94/154 (61.0%) patients and history of other affected siblings in 35/154 (22.7%) patients. Pathogenic and likely pathogenic variants (solved cases) were reported in 69/154 (44.8%) patients, a variant of uncertain significance was reported in 54/154 (35.0%) and a negative result was reported in 31/154 (20.1%) cases. In the solved cases, autosomal recessive diseases were the most common (33/69; 47.8%). Metabolic disorders were identified in 20/69 (28.9%) patients, followed by developmental and epileptic encephalopathies (9/69; 13.0%) and MECP2 related disorders (7/69; 10.1%). Other single gene disorders were identified in 33/69; 47.8%) patients.
CONCLUSION
This study had several limitations, as it was hospital-based and only including patients who were able to afford the test. Nevertheless, it yielded several important findings. In resource-limited countries, WES may be a reasonable approach. We discussed the challenges that clinicians meet in the context of shortage of resources.
Topics: Child; Humans; Genetic Testing; Intellectual Disability; Retrospective Studies; Resource-Limited Settings; Developmental Disabilities; Nervous System Malformations; Genomics; Hospitals, University
PubMed: 37236004
DOI: 10.1016/j.clineuro.2023.107799 -
Community Mental Health Journal Aug 2023People with intellectual and developmental disabilities (IDD) have higher incidences of mental health conditions and behavioral support needs than people without IDD but...
People with intellectual and developmental disabilities (IDD) have higher incidences of mental health conditions and behavioral support needs than people without IDD but may not receive needed care from community providers. We examined rates of co-occurring conditions in a representative sample of adults with IDD who use state funded services in Virginia. Using data from two datasets, we identified four categories of mental health and behavioral conditions. We used these categories to examine differences in individual- and system-level factors in people with and without co-occurring conditions. We found high rates of co-occurring conditions in our sample. We found important disability factors and system-level characteristics that were associated with having a diagnosed mental health condition or behavioral support needs. Differing patterns of diagnosis and treatment for co-occurring conditions suggests more work needs to be done to support people with IDD and co-occurring mental health conditions living in the community.
Topics: Adult; Humans; Child; Developmental Disabilities; Intellectual Disability; Mental Health; Virginia
PubMed: 36739327
DOI: 10.1007/s10597-023-01091-4 -
Behavior Modification Mar 2024Self-injurious behavior (SIB) among children and youth with developmental disabilities has not diminished in prevalence despite the availability of effective... (Meta-Analysis)
Meta-Analysis Review
Self-injurious behavior (SIB) among children and youth with developmental disabilities has not diminished in prevalence despite the availability of effective interventions, and the impact on quality of life for people and their families is devastating. The current meta-analysis reviews SIB intervention research between 2011 and 2021 using single-case experimental designs with children and youth up to 21 years old and provides a quantitative synthesis of data from high-quality studies including moderator analyses to determine effects of participant and study characteristics on intervention outcomes. Encouraging findings include a high level of effectiveness across studies in the decrease of SIB (Tau- = -0.90) and increase of positive behavior (Tau- = 0.73), as well as an increase in studies (relative to prior reviews) reporting intervention fidelity, generalization, maintenance, and social validity. However, our findings shed limited light on potential moderating variables in the development of interventions for children and youth who exhibit SIB. Of the potential moderators of intervention effects, only implementer (researcher/therapist vs. parent/caregiver) and setting (clinic vs. home) were significantly associated with improved outcomes. We discuss the need for more robust involvement of natural communities of implementers in SIB intervention research to better equip them to effectively and sustainably meet the needs of people they care for. We also discuss the importance of creating systems enabling broad access for children with SIB to effective interventions in service of reducing burden for people, families, and society over time.
Topics: Child; Humans; Adolescent; Developmental Disabilities; Quality of Life; Parents; Self-Injurious Behavior
PubMed: 38197303
DOI: 10.1177/01454455231218742 -
International Journal of... Jun 2021To map and synthesise research evidence of the effects that aided and unaided AAC interventions have on the receptive language of children with developmental... (Review)
Review
PURPOSE
To map and synthesise research evidence of the effects that aided and unaided AAC interventions have on the receptive language of children with developmental disabilities.
METHOD
This scoping review used a four-pronged search strategy (electronic databases, dissertations and theses, hand search, ancestry searches) to identify germane studies. A total of 16 studies met the inclusion criteria. These studies were described in terms of the number of participants, participant characteristics, research design, AAC interventions, intervention outcomes, intervention effects, and quality appraisal.
RESULT
The review revealed positive associations between aided and unaided AAC, vocabulary acquisition and symbol comprehension.
CONCLUSION
AAC interventions may have merit for the development of receptive language skills in children with developmental disabilities. Specific gaps in relation to unaided AAC, aided augmented input strategies, morphological and syntax development, and discourse comprehension are highlighted.
Topics: Child; Communication; Communication Aids for Disabled; Comprehension; Developmental Disabilities; Humans; Language; Vocabulary
PubMed: 32893695
DOI: 10.1080/17549507.2020.1797165 -
Research in Developmental Disabilities Oct 2021Research practices in IDD need to align current values towards people with IDD, the current understanding of IDD, and best practices regarding change strategies and...
BACKGROUND
Research practices in IDD need to align current values towards people with IDD, the current understanding of IDD, and best practices regarding change strategies and valued outcomes.
AIMS
To describe the components to-and application of-a person-centered outcome evaluation model that meets the above criteria.
METHODS AND PROCEDURES
A person-centered evaluation logic model is used to identify and describe a conceptual framework (input), a change strategy (throughput), personal outcomes (outcome), and meaningful impacts (output).
OUTCOMES AND RESULTS
Specific person-centered outcomes and exemplary outcome indicators are presented for two outcome evaluation frameworks: human functioning dimensions, and the four theoretical perspectives on IDD: biomedical, psychoeducational, sociocultural, and justice.
CONCLUSIONS AND IMPLICATIONS
A person-centered approach to outcome evaluation enhances research practices in IDD by identifying and assessing valued personal outcomes that align current values, understanding, and best practices; increases transparency; facilitates accountability; and expands understanding.
Topics: Child; Developmental Disabilities; Humans; Intellectual Disability; Outcome Assessment, Health Care
PubMed: 34325097
DOI: 10.1016/j.ridd.2021.104043 -
Disability and Health Journal Jul 2020Developmental disabilities are serious and long-lasting. There are few studies of developmental disability in the transition to adulthood, when the programs that...
BACKGROUND
Developmental disabilities are serious and long-lasting. There are few studies of developmental disability in the transition to adulthood, when the programs that provided support in childhood may no longer be available.
OBJECTIVE
We studied associations of long-lasting developmental disabilities with health, behaviors, and well-being in adulthood.
METHODS
We used the Panel Study of Income Dynamics (1968-2017), its Child Development Supplement (CDS, 1997, 2002, 2007), and its Transition into Adulthood Supplement (TAS, every-other year, 2005-2017) (n = 2702) following a national sample from childhood through age 28, defining serious developmental disabilities using diagnoses and reports from parents, teachers, schools, children, and young adults. We tested differences in proportions using Chi-square tests, estimated differences in least squares means, and used logistic regression to compare results for those with and without developmental disabilities. We adjusted results for age, sex, race, immigrant status, family income, region, metropolitan statistical area, educational attainment, and employment status, accounting for sampling weights and survey design.
RESULTS
At ages 18-21, 8.2% had serious developmental disability (95% confidence interval, CI 6.6-9.8). They were more likely to report: no high school graduation (19.3% vs. 4.3%), being assaulted physically (32.1% vs. 20.4%) or sexually (14.4% vs. 6.6%), serious criminal arrests (25.7% vs. 13.2%), smoking (30.8% vs. 12.8%), sedentariness (5.8% vs. 1.1%), obesity (39.2% vs. 23.4%), diabetes (9.1% vs. 2.1%), and work disability (18.7% vs. 4.3%) (all p < 0.01) compared to peers without developmental disability.
CONCLUSIONS
Results indicate opportunities to promote education, self-direction, safety, and well-being for people transitioning to adulthood with serious developmental disabilities.
Topics: Adolescent; Adult; Child; Child, Preschool; Developmental Disabilities; Disabled Children; Female; Humans; Logistic Models; Male; Rehabilitation; Transition to Adult Care; United States; Young Adult
PubMed: 32122799
DOI: 10.1016/j.dhjo.2020.100912 -
Southern Medical Journal Apr 2021As medical care progresses, patients with intellectual and developmental disabilities are living longer and beginning to experience diseases that commonly afflict the... (Review)
Review
As medical care progresses, patients with intellectual and developmental disabilities are living longer and beginning to experience diseases that commonly afflict the aging population, such as osteoporosis. Osteoporosis and resultant fractures increase disability and threaten the independence of this vulnerable population. In addition, the diagnosis, prevention, and management of osteoporosis present unique challenges in these patients. Critical preventive targets include exercise modification, fall prevention, and monitoring for nutrient deficiencies. Commonly used in diagnosis and treatment monitoring, dual-energy x-ray absorptiometry (DXA) scan of the hip and spine may not be feasible, whereas peripheral DXA or computed tomography may be more accessible for patients with physical disabilities. Pharmacological treatment should be tailored to the individual patient, considering factors such as adherence and comorbidities. Finally, bone turnover markers are a noninvasive, cost-effective option for monitoring treatment response in patients who cannot undergo DXA.
Topics: Absorptiometry, Photon; Adult; Aged; Aging; Bone Density Conservation Agents; Combined Modality Therapy; Developmental Disabilities; Humans; Intellectual Disability; Middle Aged; Osteoporosis; Risk Factors
PubMed: 33787940
DOI: 10.14423/SMJ.0000000000001231 -
International Health Apr 2021In the last two decades, the global community has made significant progress in saving the lives of children <5 y of age. However, these advances are failing to help all...
In the last two decades, the global community has made significant progress in saving the lives of children <5 y of age. However, these advances are failing to help all children to thrive, especially children with disabilities. Most early child development research has focussed on the impact of biological and psychosocial factors on the developing brain and the effect of early intervention on child development. Yet studies typically exclude children with disabilities, so relatively little is known about which interventions are effective for this high-risk group. In this article we provide an overview of child development and developmental disabilities. We describe family-centred care interventions that aim to provide optimal stimulation for development in a safe, stable and nurturing environment. We make the case for improving opportunities for children with developmental disabilities to achieve their full potential and thrive, including through inclusive early childhood development intervention. Finally, we call for the global research community to adopt a systematic approach for better evidence for and implementation of early interventions for children with developmental disabilities in low-resource settings.
Topics: Child; Child Development; Child, Preschool; Developing Countries; Developmental Disabilities; Disabled Persons; Humans; Income
PubMed: 32780826
DOI: 10.1093/inthealth/ihaa044 -
Developmental Medicine and Child... Nov 2021
Topics: Child; Developmental Disabilities; Humans
PubMed: 34651310
DOI: 10.1111/dmcn.14995 -
Developmental Medicine and Child... Mar 2020
Topics: Developmental Disabilities; Humans; Neurology; Pediatrics
PubMed: 32128807
DOI: 10.1111/dmcn.14468