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Developmental Medicine and Child... Dec 2023Epidemiological approaches have played an important role in creating better understanding of developmental disabilities by delineating their frequency in populations and... (Review)
Review
Epidemiological approaches have played an important role in creating better understanding of developmental disabilities by delineating their frequency in populations and changes in their frequency over time, by identifying etiological factors, and by documenting pathways to prevention. Both cerebral palsy (CP) and mild intellectual disability are declining in frequency in high-income countries. The diagnosis of autism spectrum disorder has increased in recent decades, but much of this increase is a result of changing approaches to ascertainment and recording. Epidemiological studies have found that most CP is not of birth-asphyxial origin, that most febrile seizures do not pose a major risk for epilepsy, and that folic acid deficiency may contribute to developmental disabilities apart from its effect on neural tube defects. Epidemiological research has shown that an important fraction of neural tube defects and virtually all cases of Reye syndrome are preventable, and recent trials have shown ways to prevent CP. Early psychoeducational interventions in children at risk for mild intellectual disability are an effective and valuable societal investment. Very large population-based studies starting in pregnancy have been launched in Norway, Denmark, and Japan in recent years and these and other population studies promise to continue the epidemiological contribution to a better understanding of developmental disabilities.
Topics: Child; Pregnancy; Female; Humans; Developmental Disabilities; Autism Spectrum Disorder; Intellectual Disability; Neural Tube Defects; Cerebral Palsy
PubMed: 37149891
DOI: 10.1111/dmcn.15633 -
Frontiers in Pediatrics 2023
PubMed: 37868271
DOI: 10.3389/fped.2023.1295630 -
Human Molecular Genetics Oct 2023Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic...
Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling and signaling. Here we report on 12 individuals with nine different heterozygous de novo variants in RAB5C. All but one patient with missense variants (n = 9) exhibited macrocephaly, combined with mild-to-moderate developmental delay. Patients with loss of function variants (n = 2) had an apparently more severe clinical phenotype with refractory epilepsy and intellectual disability but a normal head circumference. Four missense variants were investigated experimentally. In vitro biochemical studies revealed that all four variants were damaging, resulting in increased nucleotide exchange rate, attenuated responsivity to guanine exchange factors and heterogeneous effects on interactions with effector proteins. Studies in C. elegans confirmed that all four variants were damaging in vivo and showed defects in endocytic pathway function. The variant heterozygotes displayed phenotypes that were not observed in null heterozygotes, with two shown to be through a dominant negative mechanism. Expression of the human RAB5C variants in zebrafish embryos resulted in defective development, further underscoring the damaging effects of the RAB5C variants. Our combined bioinformatic, in vitro and in vivo experimental studies and clinical data support the association of RAB5C missense variants with a neurodevelopmental disorder characterized by macrocephaly and mild-to-moderate developmental delay through disruption of the endocytic pathway.
Topics: Animals; Humans; Child; Zebrafish; Caenorhabditis elegans; Neurodevelopmental Disorders; Intellectual Disability; Phenotype; rab GTP-Binding Proteins; Megalencephaly; Developmental Disabilities; Mutation, Missense; rab5 GTP-Binding Proteins
PubMed: 37552066
DOI: 10.1093/hmg/ddad130 -
Disability and Health Journal Jul 2024Autistic adults and those with other developmental disabilities (DD) have increased depressive symptoms and decreased activity engagement when compared to those with no...
BACKGROUND
Autistic adults and those with other developmental disabilities (DD) have increased depressive symptoms and decreased activity engagement when compared to those with no DD. Few studies explore activities related to depressive symptoms in autistic people and those with other DD during adolescence.
OBJECTIVE
The objectives of this analysis were to describe depressive symptoms and activity engagement among autistic adolescents and those with other DD and no DD and explore types of activities associated with depressive symptoms, stratified by study group.
METHODS
Parents of adolescents completed a multi-site case-control study of autism and other DD when their child was 2-5 years of age and a follow-up survey when their child was 12-16 years of age. Questions asked about the adolescent's current diagnoses, depressive symptoms (i.e., diagnosis, medication use, or symptoms), and engagement in club, social, sport, vocational, volunteer, and other organized activities.
RESULTS
Autistic adolescents (N = 238) and those with other DD (N = 222) were significantly more likely to have depressive symptoms than adolescents with no DD (N = 406), (31.9 %, 30.6 %, and 15.0 % respectively). Lower percentages of autistic adolescents participated in activities than peers with other DD, who had lower percentages than peers with no DD. Participation in sports was associated with lower likelihood of depressive symptoms in all groups.
CONCLUSIONS
Autistic adolescents and those with other DD are at increased risk for depressive symptoms and reduced activity engagement. Participation in sports may be especially important for adolescent mental health regardless of disability status. Implications for public health education and intervention are discussed.
Topics: Humans; Adolescent; Female; Male; Depression; Developmental Disabilities; Case-Control Studies; Autistic Disorder; Child; Disabled Persons; Parents; Child, Preschool; Surveys and Questionnaires; Social Participation; Sports
PubMed: 38664150
DOI: 10.1016/j.dhjo.2024.101633 -
Obstetrics and Gynecology Dec 2023To compare contraceptive provision to women with and without intellectual and developmental disabilities enrolled in North Carolina Medicaid.
OBJECTIVE
To compare contraceptive provision to women with and without intellectual and developmental disabilities enrolled in North Carolina Medicaid.
METHODS
Our retrospective cohort study used 2019 North Carolina Medicaid claims to identify women aged 15-44 years with and without intellectual and developmental disabilities at risk for pregnancy who were continuously enrolled during 2019 or had Family Planning Medicaid with at least one claim. We calculated the proportion in each cohort who received 1) most or moderately effective contraception, 2) long-acting reversible contraception, 3) short-acting contraception, and 4) individual methods. We classified contraceptive receipt by procedure type and disaggregated across sociodemographic characteristics. Adjusting for age, race, ethnicity, and urban or rural setting, we constructed logistic regression models to estimate most or moderately effective contraceptive provision odds by intellectual and developmental disability status and by level or type of intellectual and developmental disability. We performed subanalyses to estimate co-occurrence of provision and menstrual disorders.
RESULTS
Among 9,508 women with intellectual and developmental disabilities and 299,978 without, a significantly smaller proportion with intellectual and developmental disabilities received most or moderately effective contraception (30.1% vs 36.3%, P <.001). With the exception of injectable contraception, this trend was consistent across all measures and remained statistically significant after controlling for race, ethnicity, age, and urban or rural status (adjusted odds ratio 0.75, 95% CI 0.72-0.79; P <.001). Among those who received most or moderately effective contraception, a significantly greater proportion of women with intellectual and developmental disabilities had co-occurring menstrual disorders (31.3% vs 24.3%, P <.001).
CONCLUSION
These findings suggest disparities in contraceptive provision and potential differences in clinical indication by intellectual and developmental disability status. Future studies should investigate reasons for and barriers to contraceptive use among women with intellectual and developmental disabilities.
Topics: Pregnancy; United States; Child; Female; Humans; Contraceptive Agents; Medicaid; Developmental Disabilities; Retrospective Studies; Contraception
PubMed: 38051293
DOI: 10.1097/AOG.0000000000005421 -
Developmental Medicine and Child... Nov 2023
Topics: Humans; Child; Developmental Disabilities; Neurodevelopmental Disorders
PubMed: 37496235
DOI: 10.1111/dmcn.15723 -
Intellectual and Developmental... Jun 2024People with intellectual and developmental disabilities (IDD) are overrepresented in the criminal justice system both as victims/survivors and as offenders. The needs...
People with intellectual and developmental disabilities (IDD) are overrepresented in the criminal justice system both as victims/survivors and as offenders. The needs and circumstances of individuals from underserved communities have received scant attention in the literature. Stakeholders met online at the 2022 State of the Science Conference on Community Living to discuss criminal justice and to identify goals for research involving people with IDD. The group focused more on victimization and less on offenders. Victimization issues examined included prevalence, people from underserved communities, sexual victimization, consequences of victimization, victim compensation, prevention, and risk reduction. Issues regarding offenders included prevalence, people from underserved communities, and competency to stand trial. Future directions are proposed for research on victimization and on offenders.
Topics: Humans; Intellectual Disability; Developmental Disabilities; Criminal Law; Crime Victims; Criminals
PubMed: 38802095
DOI: 10.1352/1934-9556-62.3.211 -
Journal of Neurodevelopmental Disorders Mar 2024
Topics: Child; Humans; Developmental Disabilities; Intellectual Disability
PubMed: 38481128
DOI: 10.1186/s11689-024-09526-z -
American Journal on Intellectual and... Sep 2023This commentary on Kover and Abbeduto (2023) underscores the critical importance of naming and framing toward an equity agenda in intellectual and developmental...
This commentary on Kover and Abbeduto (2023) underscores the critical importance of naming and framing toward an equity agenda in intellectual and developmental disabilities research. More specifically, I briefly outline (1) why racialization is an important anchor in IDD discourse; (2) whiteness as a necessary point of discussion; and (3) the adoption of critical inquiry and critical praxis.
Topics: Child; Humans; Developmental Disabilities; Diversity, Equity, Inclusion; Biomedical Research
PubMed: 37644856
DOI: 10.1352/1944-7558-128.5.379 -
American Journal on Intellectual and... Sep 2023Lack of diversity in IDD research is typically conceptualized only in terms of (1) recruitment of samples that do not appropriately represent the sociodemographics of...
Lack of diversity in IDD research is typically conceptualized only in terms of (1) recruitment of samples that do not appropriately represent the sociodemographics of the population, or (2) the limited number of researchers from historically marginalized backgrounds. Critically, the field also suffers from over-reliance on perspectives and social systems of dominant culture-both in how disability is regarded and in relation to other dimensions of identity and culture. These lenses lead to research findings that reinforce, rather than reduce, social inequities. We propose a framework that minimizes reliance on diagnostic categories, shifts from deficit- to person-centered models, acknowledges people's multiple identities, and includes self-advocates and diverse communities as partners in the research enterprise. The systems change necessary to support this framework is described.
Topics: Child; Humans; Developmental Disabilities; Diversity, Equity, Inclusion; Biomedical Research
PubMed: 37644865
DOI: 10.1352/1944-7558-128.5.350