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American Journal of Obstetrics and... May 2024Adults with developmental disabilities often have less access to reproductive health services than adults without these disabilities. However, little is known about how...
BACKGROUND
Adults with developmental disabilities often have less access to reproductive health services than adults without these disabilities. However, little is known about how adolescents with developmental disabilities, including autism, access reproductive healthcare.
OBJECTIVE
We aimed to characterize the use of reproductive healthcare services among adolescents with autism and those with other developmental disabilities in comparison with adolescents with typical development.
STUDY DESIGN
We conducted a cohort study of a sample of adolescents who were continuously enrolled members of Kaiser Permanente Northern California, an integrated healthcare system, from ages 14 to 18 years. The final analytical sample included 700 adolescents with autism, 836 adolescents with other developmental disabilities, and 2187 typically developing adolescents who sought care between 2000 and 2017. Using the electronic health record, we obtained information on menstrual conditions, the use of obstetrical-gynecologic care, and prescriptions of hormonal contraception. We compared healthcare use between the groups using chi-square tests and covariate-adjusted risk ratios estimated using modified Poisson regression.
RESULTS
Adolescents with autism and those with other developmental disabilities were significantly more likely to have diagnoses of menstrual disorders, polycystic ovary syndrome, and premenstrual syndrome than typically developing adolescents. These 2 groups also were less likely than typically developing peers to visit the obstetrician-gynecologist or to use any form of hormonal contraception, including oral contraception, hormonal implants, and intrauterine devices. Adolescents in all 3 groups accessed hormonal contraception most frequently through their primary care provider, followed by an obstetrician-gynecologist.
CONCLUSION
Adolescents with autism and those with other developmental disabilities are less likely than their typically developing peers to visit the obstetrician-gynecologist and to use hormonal contraception, suggesting possible care disparities that may persist into adulthood. Efforts to improve access to reproductive healthcare in these populations should target care delivered in both the pediatric and obstetrics-gynecology settings.
Topics: Humans; Adolescent; Female; Developmental Disabilities; Autistic Disorder; Cohort Studies; Reproductive Health Services; California; Menstruation Disturbances; Polycystic Ovary Syndrome; Health Services Accessibility; Case-Control Studies; Contraception
PubMed: 38218512
DOI: 10.1016/j.ajog.2024.01.005 -
Developmental Medicine and Child... Jun 2024In 2022, the International League Against Epilepsy revised their classification of epilepsy syndromes for clinicians to better understand the relationships between... (Review)
Review
In 2022, the International League Against Epilepsy revised their classification of epilepsy syndromes for clinicians to better understand the relationships between different epilepsy syndromes, their underlying causes, and their associated developmental and behavioral features. This review highlights portions of the current classification with an emphasis on epilepsy syndromes that readily present with developmental challenges and provides a unique framework, based on electroencephalography, to easily identify and understand these syndromes. Included in this review are a helpful categorization scheme with visual aid, descriptions of updated epilepsy syndromes, figures of relevant identifiers of syndrome and information regarding future directions toward treatment and research. Covered syndromes include developmental and epileptic encephalopathy, Dravet syndrome, Rasmussen syndrome, and infantile epileptic spasm syndrome, among others. WHAT THIS PAPER ADDS: The revised epilepsy syndrome classification by the International League Against Epilepsy aims to improve the outcomes for children with epilepsy. The electroencephalography features of epilepsy syndromes are grouped based on a categorization model. This model allows clinicians to understand overlapping phenotypes and aid with both identification and diagnosis.
Topics: Humans; Epileptic Syndromes; Child; Developmental Disabilities; Electroencephalography; Epilepsy
PubMed: 38140949
DOI: 10.1111/dmcn.15838 -
Pediatric Transplantation Dec 2023Historically, intellectual and developmental disability (IDD) has been considered an important factor in choosing potential recipients of organ transplants among many... (Review)
Review
BACKGROUND
Historically, intellectual and developmental disability (IDD) has been considered an important factor in choosing potential recipients of organ transplants among many transplant centers. This study evaluated the temporal changes at the national and regional levels in the proportion of heart transplantation in children with IDD.
METHODS
Children younger than 19 years in the United Network for Organ Sharing (UNOS) database who received heart transplants from 2010 to 2021 were included in this study. The patients were grouped into only definitive intellectual disability, both definitive intellectual and motor disability, only definitive motor disability, and no developmental disability. Multinomial logistic regressions were used to examine the proportion of heart transplants in each category for the whole cohort and each geographic transplant region.
RESULTS
There were 4273 pediatric heart transplant recipients included in the study. From 2010 to 2021, the percentages of pediatric heart transplants increased from 3.8% (95% CI, 0.01-0.05) to 5.8% (95% CI, 0.03-0.08) in children with only definitive intellectual disability (OR 0.07; 95% CI, 0.02-0.1, p < .002), from 3.4% (95% CI, 0.01-0.05) to 6.6% (95% CI, 0.04-0.09) in children with both definitive intellectual disability and motor disability (OR 0.09; 95% CI, 0.05-0.13, p < .001), and from 5.2% (95% CI, 0.02-0.07) to 8.3% (95% CI, 0.05-0.1) in children with only definitive motor disability (OR 0.06; 95% CI, 0.02-0.09, p < .002). There were several regional differences in the proportion of children with intellectual and developmental disabilities who received heart transplants.
CONCLUSION
There is increasing inclusion of children diagnosed with intellectual and developmental disabilities in heart transplantation. A review of the current allocation policies may address the marked geographic variations found in this study.
Topics: Child; Humans; Developmental Disabilities; Intellectual Disability; Disabled Persons; Motor Disorders; Heart Transplantation
PubMed: 37842949
DOI: 10.1111/petr.14620 -
Intellectual and Developmental... Dec 2023This study is among the first pre-post examinations to explore differences in subjective well-being, adaptive and maladaptive behavior, close relationships, community...
This study is among the first pre-post examinations to explore differences in subjective well-being, adaptive and maladaptive behavior, close relationships, community integration, family members' satisfaction with residential and community living settings, and family contact before and after the COVID-19 outbreak. Participants demonstrated better life satisfaction and adaptive behavior before COVID-19 than after COVID-19. Participants reported closer relationships with family members and peers before COVID-19 and closer relationships with staff members after COVID-19. The findings reveal mixed, although mostly negative, effects of the pandemic on people with intellectual and developmental disabilities in the community in Israel, in accord with extant comparative research.
Topics: Child; Humans; COVID-19; Israel; Intellectual Disability; Developmental Disabilities; Family
PubMed: 38011742
DOI: 10.1352/1934-9556-61.6.454 -
The Lancet. Diabetes & Endocrinology Dec 2023
Topics: Child; Humans; Developmental Disabilities; Diabetes Mellitus
PubMed: 37931636
DOI: 10.1016/S2213-8587(23)00324-8 -
Annals of Surgical Oncology Feb 2024Individuals with intellectual and developmental disabilities may face barriers in accessing healthcare, including cancer screening and detection services. We sought to...
BACKGROUND
Individuals with intellectual and developmental disabilities may face barriers in accessing healthcare, including cancer screening and detection services. We sought to assess the association of intellectual and developmental disabilities (IDD) with breast cancer screening rates.
METHODS
Data from 2018 to 2020 was used to identify screening-eligible individuals from Medicare Standard Analytic Files. Adults aged 65-79 years who did not have a previous diagnosis of breast cancer were included. Multivariable regression was used to analyze the differences in breast cancer screening rates among individuals with and without IDD.
RESULTS
Among 9,383,349 Medicare beneficiaries, 11,265 (0.1%) individuals met the criteria for IDD. Of note, individuals with IDD were more likely to be non-Hispanic White (90.5% vs. 87.3%), have a Charlson Comorbidity Index score ≤ 2 (66.2% vs. 85.5%), and reside in a low social vulnerability index neighborhood (35.7% vs. 34.4%). IDD was associated with reduced odds of undergoing breast cancer screening (odds ratio (OR) 0.77, 95% confidence interval (CI) 0.74-0.80; p < 0.001). Breast cancer screening rates in individuals with IDD were further influenced by social vulnerability and belonging to a racial/ethnic minority.
CONCLUSIONS
Individuals with IDD may face additional barriers to breast cancer screening. The combination of IDD and social vulnerability placed patients at particularly high risk of not being screened for breast cancer.
Topics: Adult; Child; Humans; Aged; United States; Female; Breast Neoplasms; Ethnicity; Early Detection of Cancer; Developmental Disabilities; Medicare; Minority Groups
PubMed: 37857986
DOI: 10.1245/s10434-023-14425-z -
American Journal of Human Genetics Nov 2023Misregulation of histone lysine methylation is associated with several human cancers and with human developmental disorders. DOT1L is an evolutionarily conserved gene...
Misregulation of histone lysine methylation is associated with several human cancers and with human developmental disorders. DOT1L is an evolutionarily conserved gene encoding a lysine methyltransferase (KMT) that methylates histone 3 lysine-79 (H3K79) and was not previously associated with a Mendelian disease in OMIM. We have identified nine unrelated individuals with seven different de novo heterozygous missense variants in DOT1L through the Undiagnosed Disease Network (UDN), the SickKids Complex Care genomics project, and GeneMatcher. All probands had some degree of global developmental delay/intellectual disability, and most had one or more major congenital anomalies. To assess the pathogenicity of the DOT1L variants, functional studies were performed in Drosophila and human cells. The fruit fly DOT1L ortholog, grappa, is expressed in most cells including neurons in the central nervous system. The identified DOT1L variants behave as gain-of-function alleles in flies and lead to increased H3K79 methylation levels in flies and human cells. Our results show that human DOT1L and fly grappa are required for proper development and that de novo heterozygous variants in DOT1L are associated with a Mendelian disease.
Topics: Humans; Gain of Function Mutation; Histone-Lysine N-Methyltransferase; Histones; Lysine; Methylation; Methyltransferases; Neoplasms; Drosophila; Drosophila Proteins; Developmental Disabilities; Congenital Abnormalities
PubMed: 37827158
DOI: 10.1016/j.ajhg.2023.09.009 -
Journal of the American Academy of... Oct 2023Screening for emotional, behavioral, and developmental disorders is generally considered to be a valuable activity in the child and youth developmental and mental health...
Screening for emotional, behavioral, and developmental disorders is generally considered to be a valuable activity in the child and youth developmental and mental health service sectors. The premise is that screening allows for early identification, which in turn allows for early intervention, which in turn leads to better long-term outcomes. While the hypothesized causal chain from screening to outcomes may seem long, the evidence base to support this aspiration is growing. In this issue of the Journal, the article by Rah et al. provides an important piece of the puzzle to support screening for developmental disorders in early childhood in particular and has a number of important lessons for the field.
Topics: Child; Adolescent; Humans; Child, Preschool; Developmental Disabilities; Emotions; Outcome Assessment, Health Care
PubMed: 36958406
DOI: 10.1016/j.jaac.2023.03.009 -
JAMA Jan 2024
Topics: Child, Preschool; Humans; Child Development; Developmental Disabilities
PubMed: 38165411
DOI: 10.1001/jama.2023.23652 -
Medicare, Medicaid, and dual enrollment for adults with intellectual and developmental disabilities.Health Services Research Jun 2024Given high rates of un- and underemployment among disabled people, adults with intellectual and developmental disabilities rely on Medicaid, Medicare, or both to pay for...
OBJECTIVE
Given high rates of un- and underemployment among disabled people, adults with intellectual and developmental disabilities rely on Medicaid, Medicare, or both to pay for healthcare. Many disabled adults are Medicare eligible before the age of 65 but little is known as to why some receive Medicare services while others do not. We described the duration of Medicare enrollment for adults with intellectual and developmental disabilities in 2019 and then compared demographics by enrollment type (Medicare-only, Medicaid-only, dual-enrolled). Additionally, we examined the percent in each enrollment type by state, and differences in enrollment type for those with Down syndrome.
DATA SOURCES AND STUDY SETTING
2019 Medicare and Medicaid claims data for all adults (≥18 years) in the US with claim codes for intellectual disability, Down syndrome, or autism at any time between 2011 and 2019.
STUDY DESIGN
Administrative claims cohort.
DATA COLLECTION AND ABSTRACTION METHODS
Data were from the Transformed Medicaid Statistical Information System Analytic Files and Medicare Beneficiary Summary files.
PRINCIPLE FINDINGS
In 2019, Medicare insured 582,868 adults with identified intellectual disability, autism, or Down syndrome. Of 582,868 Medicare beneficiaries, 149,172 were Medicare only and 433,396 were dual-enrolled. Most Medicare enrollees were enrolled as child dependents (61.5%) Medicaid-only enrollees (N = 819,256) were less likely to be white non-Hispanic (58.5% white non-Hispanic vs. 72.9% white non-Hispanic in dual-enrolled), more likely to be Hispanic (19.6% Hispanic vs. 9.2% Hispanic in dual-enrolled) and were younger (mean 34.2 years vs. 50.5 years dual-enrolled).
CONCLUSION
There is heterogeneity in public insurance enrollment which is associated with state and disability type. Action is needed to ensure all are insured in the program that works for their healthcare needs.
Topics: Humans; United States; Intellectual Disability; Medicare; Medicaid; Male; Female; Developmental Disabilities; Middle Aged; Adult; Aged; Down Syndrome; Disabled Persons; Eligibility Determination; Young Adult; Insurance Claim Review
PubMed: 38264862
DOI: 10.1111/1475-6773.14287