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1.
Am J Med Genet C Semin Med Genet ; : e32097, 2024 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-38925597

RESUMEN

BACKGROUND: Mosaic Down syndrome is a triplication of chromosome 21 in some but not all cells. Little is known about the epidemiology of mosaic Down syndrome. We described prevalence of mosaic Down syndrome and the co-occurrence of common chronic conditions in 94,533 Medicaid enrolled adults with any Down syndrome enrolled from 2016 to 2019. METHODS: We identified mosaic Down syndrome using the International Classification of Diseases and Related Health Problems, tenth edition code for mosaic Down syndrome and compared to those with nonmosaic Down syndrome codes. We identified chronic conditions using established algorithms and compared prevalence by mosaicism. RESULTS: In total, 1966 (2.08%) had claims for mosaic Down syndrome. Mosaicism did not differ by sex or race/ethnicity with similar age distributions. Individuals with mosaicism were more likely to present with autism (13.9% vs. 9.6%) and attention deficit hyperactivity disorder (17.7% vs. 14.0%) compared to individuals without mosaicism. In total, 22.3% of those with mosaic Down syndrome and 21.5% of those without mosaicism had claims for Alzheimer's dementia (Prevalence difference: 0.8; 95% Confidence interval: -1.0, 2.8). The mosaic group had 1.19 times the hazard of Alzheimer's dementia compared to the nonmosaic group (95% CI: 1.0, 1.3). DISCUSSION: Mosaicism may be associated with a higher susceptibility to certain neurodevelopmental and neurodegenerative conditions, including Alzheimer's dementia. Our findings challenge previous assumptions about its protective effects in Down syndrome. Further research is necessary to explore these associations in greater depth.

2.
J Dev Behav Pediatr ; 2024 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-38896561

RESUMEN

OBJECTIVE: Early treatment of autism spectrum disorder (ASD) can improve developmental outcomes. Children with ASD from minority families often receive services later. We explored factors related to child's age at time of mother's first concerns about child's development and subsequent time to service initiation among children with ASD. METHODS: Analysis included 759 preschool-age children classified with ASD based on comprehensive evaluations. Factors associated with retrospectively reported child age at time of first maternal concern and subsequent time to service initiation were investigated using multiple linear regression and Cox proportional hazards. RESULTS: Earlier maternal concern was associated with multiparity, ≥1 child chronic condition, externalizing behaviors, and younger gestational age, but not race/ethnicity. Time to service initiation was longer for children of non-Latino Black or other than Black or White race and higher developmental level and shorter for children with ≥1 chronic condition and older child age at first maternal concern. CONCLUSION: Parity, gestational age, and child health and behavior were associated with child age at first maternal concern. Knowledge of child development in multiparous mothers may allow them to recognize potential concerns earlier, suggesting that first time parents may benefit from enhanced education about normal development. Race/ethnicity was not associated with child's age when mothers recognized potential developmental problems; hence, it is unlikely that awareness of ASD symptoms causes racial/ethnic disparities in initiation of services. Delays in time to service initiation among children from racial/ethnic minority groups highlight the need to improve their access to services as soon as developmental concerns are recognized.

3.
Autism Res ; 17(3): 650-667, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38415400

RESUMEN

Intellectual disability (ID) commonly co-occurs in children with autism. Although diagnostic criteria for ID require impairments in both cognitive and adaptive functioning, most population-based estimates of the frequency of co-occurring ID in children with autism-including studies of racial and ethnic disparities in co-occurring autism and ID-base the definition of ID solely on cognitive scores. The goal of this analysis was to examine the effect of including both cognitive and adaptive behavior criteria on estimates of co-occurring ID in a well-characterized sample of 2- to 5-year-old children with autism. Participants included 3264 children with research or community diagnoses of autism enrolled in the population-based Study to Explore Early Development (SEED) phases 1-3. Based only on Mullen Scales of Early Learning (MSEL) composite cognitive scores, 62.9% (95% confidence interval [CI]: 61.1, 64.7%) of children with autism were estimated to have co-occurring ID. After incorporating Vineland Adaptive Behavior Scales, Second Edition (VABS-II) composite or domains criteria, co-occurring ID estimates were reduced to 38.0% (95% CI: 36.2, 39.8%) and 45.0% (95% CI: 43.1, 46.9%), respectively. The increased odds of meeting ID criteria observed for non-Hispanic (NH) Black and Hispanic children relative to NH White children when only MSEL criteria were used were substantially reduced, though not eliminated, after incorporating VABS-II criteria and adjusting for selected socioeconomic variables. This study provides evidence for the importance of considering adaptive behavior as well as socioeconomic disadvantage when describing racial and ethnic disparities in co-occurring ID in epidemiologic studies of autism.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastornos Generalizados del Desarrollo Infantil , Discapacidad Intelectual , Humanos , Niño , Preescolar , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/epidemiología , Trastorno Autístico/complicaciones , Trastorno Autístico/epidemiología , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/diagnóstico , Adaptación Psicológica
4.
Health Serv Res ; 59(3): e14287, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38264862

RESUMEN

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.


Asunto(s)
Discapacidades del Desarrollo , Discapacidad Intelectual , Medicaid , Medicare , Humanos , Estados Unidos , Medicare/estadística & datos numéricos , Medicaid/estadística & datos numéricos , Masculino , Femenino , Persona de Mediana Edad , Adulto , Anciano , Síndrome de Down , Personas con Discapacidad/estadística & datos numéricos , Determinación de la Elegibilidad , Adulto Joven , Revisión de Utilización de Seguros
5.
Am J Med Genet C Semin Med Genet ; 196(1): e32041, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37072379

RESUMEN

Research regarding caregivers for individuals with Down syndrome mainly focuses on outcomes for the pediatric population and not on the experience of caregivers themselves. Our objective was to understand caregiver-reported experiences and concerns for themselves and the individual they care for through a survey of caregivers of adults with Down syndrome. We conducted a survey of N = 438 caregivers of adults with Down syndrome and asked about the perspectives of the respondents surrounding caregiving and demographics. The most common concerns among caregivers were planning for future needs (72.1%) and what happens when they (the caregiver) are gone (68.3%). Concerns they had for the individual they cared for were employment (63.2%) and friendships/relationships (63.2%). We found no significant difference in responses based on caregiver education level. Our survey identified six themes for the feedback about what clinical and research professionals should know to better serve individuals with Down syndrome, their families, and those who support them. Many caregivers discussed topics including healthcare, coordination, competence, and ability. More efforts for research into the caregiver experience for adults with Down syndrome are needed.


Asunto(s)
Cuidadores , Síndrome de Down , Adulto , Humanos , Niño , Encuestas y Cuestionarios
6.
MicroPubl Biol ; 20232023.
Artículo en Inglés | MEDLINE | ID: mdl-38021175

RESUMEN

Proteins that persistently engage endoplasmic reticulum (ER) translocons are degraded by multiple translocon quality control (TQC) mechanisms. In Saccharomyces cerevisiae , the model translocon-associated protein Deg1 -Sec62 is subject to ER-associated degradation (ERAD) by the Hrd1 ubiquitin ligase and, to a lesser extent, proteolysis mediated by the Ste24 protease. In a recent screen, we identified nine methionine-biosynthetic genes as candidate TQC regulators. Here, we found methionine restriction impairs Hrd1-independent Deg1 -Sec62 degradation. Beyond revealing methionine as a novel regulator of TQC, our results urge caution when working with laboratory yeast strains with auxotrophic mutations, often presumed not to influence cellular processes under investigation.

7.
JAMA Psychiatry ; 80(12): 1284-1287, 2023 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-37792361

RESUMEN

Importance: The reported prevalence of autism in children has consistently risen over the past 20 years. The concurrent implications for the adult Medicaid system, which insures autistic adults due to low income or disability, have not been studied. Objective: To estimate the prevalence of adults identified as autistic in Medicaid claims data and to examine the prevalence by year, age, and race and ethnicity to understand enrollment patterns. Design, Setting, and Participants: This cohort study used data from a longitudinal Medicaid claims cohort of enrollees aged 18 years or older with a claim for autism at any point from January 1, 2011, to December 31, 2019, and an approximately 1% random sample of all adult Medicaid enrollees. The data were analyzed between February 22 and June 22, 2023. Exposure: Adults enrolled in Medicaid with a claim for autism. Main Outcome and Measures: Prevalence of autism per 1000 Medicaid enrollees for each year was calculated using denominator data from the Centers for Medicare & Medicaid Services weighted to nondisabled population demographic characteristics. Prevalence by race and ethnicity were calculated for study year 2019. Results: Across 9 years, 403 028 unique adults had autism claims in their Medicaid records (25.7% female, 74.2% male, 3.3% Asian, 16.8% Black, 12.2% Hispanic, 0.8% Native American, 0.8% Pacific Islander, 74.3% White, and 4.2% of multiple races). Across all ages, autism prevalence increased from 4.2 per 1000 enrollees in 2011 to 9.5 per 1000 enrollees in 2019. The largest increase over the 9 years was in the 25- to 34-year age group (195%), and the smallest increase was in the 55- to 64-year age group (45%). The prevalence of White enrollees was at least 2 times that of the prevalence of every other racial group in all age categories. Conclusions and Relevance: The study findings suggest that despite difficulties in identifying autism in adults, there is a considerable and growing population of autistic adults enrolled in Medicaid. As children on the autism spectrum become autistic adults, Medicaid is an important insurance provider for an increasing number of autistic adults and can be a valuable resource for understanding the health of the autistic population.


Asunto(s)
Trastorno Autístico , Medicaid , Niño , Adulto , Humanos , Masculino , Anciano , Estados Unidos/epidemiología , Femenino , Trastorno Autístico/diagnóstico , Trastorno Autístico/epidemiología , Estudios de Cohortes , Prevalencia , Medicare
8.
bioRxiv ; 2023 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-37662264

RESUMEN

Primarily undergraduate institutions (PUIs) often struggle to provide authentic research opportunities that culminate in peer-reviewed publications due to "recipe-driven" lab courses and the comprehensive body of work necessary for traditional scientific publication. However, the advent of short-form, single-figure "micropublications" has created novel opportunities for early-career scientists to make and publish authentic scientific contributions on a scale and in a timespan compatible with their training periods. The purpose of this qualitative case study is to explore the benefits accrued by eight undergraduate and master's students who participated in authentic, small-scale research projects and disseminated their work as coauthors of peer-reviewed micropublications at a PUI. In these interviews, students reported that through the process of conducting and publishing their research, they developed specific competencies: reading scientific literature, proposing experiments, and collecting/interpreting publication-worthy data. Further, they reported this process enabled them to identify as contributing members of the greater scientific community.

9.
Autism ; : 13623613231193194, 2023 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-37609907

RESUMEN

LAY ABSTRACT: Autistic people are often described as "low-" or "high-functioning" based on their scores on cognitive tests. These terms are common in publications and in everyday communication. However, recent research and feedback from the autistic community suggests that relying on cognitive ability alone to describe functioning may miss meaningful differences in the abilities of autistic children and adults and in the kinds of support they may need. Additional methods are needed to describe "functioning" in autistic children. We examined whether scores from a test measuring adaptive behaviors would provide information on the functional abilities of children with autism that is different from cognitive ability and autism symptom severity. Adaptive behaviors include age-appropriate skills that allow people to function in their everyday lives and social interactions. We found that a large amount of the variation in adaptive behavior scores was not explained by cognitive development, autism symptom severity, and behavioral and emotional problems. In addition, there was a wide range of adaptive ability levels in children with autism in our study, including in those with low, average, or high cognitive scores. Our results suggest that adaptive behavior scores could provide useful information about the strengths and support needs of autistic children above and beyond measures of cognitive ability and autism symptom severity. Adaptive behavior scores provide important information on the needs of autistic people.

10.
PeerJ ; 11: e15897, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37645016

RESUMEN

Background: Candida albicans is the most prevalent human fungal pathogen. In immunocompromised individuals, C. albicans can cause serious systemic disease, and patients infected with drug-resistant isolates have few treatment options. The ubiquitin-proteasome system has not been thoroughly characterized in C. albicans. Research from other organisms has shown ubiquitination is important for protein quality control and regulated protein degradation at the endoplasmic reticulum (ER) via ER-associated protein degradation (ERAD). Methods: Here we perform the first characterization, to our knowledge, of ERAD in a human fungal pathogen. We generated functional knockouts of C. albicans genes encoding three proteins predicted to play roles in ERAD, the ubiquitin ligases Hrd1 and Doa10 and the ubiquitin-conjugating enzyme Ubc7. We assessed the fitness of each mutant in the presence of proteotoxic stress, and we used quantitative tandem mass tag mass spectrometry to characterize proteomic alterations in yeast lacking each gene. Results: Consistent with a role in protein quality control, yeast lacking proteins thought to contribute to ERAD displayed hypersensitivity to proteotoxic stress. Furthermore, each mutant displayed distinct proteomic profiles, revealing potential physiological ERAD substrates, co-factors, and compensatory stress response factors. Among candidate ERAD substrates are enzymes contributing to ergosterol synthesis, a known therapeutic vulnerability of C. albicans. Together, our results provide the first description of ERAD function in C. albicans, and, to our knowledge, any pathogenic fungus.


Asunto(s)
Candida albicans , Degradación Asociada con el Retículo Endoplásmico , Humanos , Candida albicans/genética , Proteómica , Proteínas Fúngicas/genética , Ubiquitina , Retículo Endoplásmico/genética
11.
JBJS Case Connect ; 13(3)2023 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-37590426

RESUMEN

CASE: Primary spinal epidural lymphoma (PSEL) presenting as myelopathy is extremely rare, particularly within young, healthy adults. This case report describes a 26-year-old man presenting with progressive thoracic myelopathy. Magnetic resonance imaging revealed spinal epidural masses spanning T5-T10 and T12-L2 with multilevel cord compression and edema. After evaluation, the patient underwent emergent posterior decompression to prevent progressive neurological decline. Histology was consistent with diffuse large B-cell lymphoma, germinal center type. At 3 months postoperatively, the patient regained full neurologic function. CONCLUSION: Although rare, PSELs should be considered in patients presenting with myelopathy to facilitate timely diagnosis and treatment.


Asunto(s)
Enfermedades de la Médula Ósea , Linfoma de Células B Grandes Difuso , Enfermedades Musculoesqueléticas , Compresión de la Médula Espinal , Enfermedades de la Médula Espinal , Masculino , Humanos , Adulto Joven , Adulto , Compresión de la Médula Espinal/diagnóstico por imagen , Compresión de la Médula Espinal/etiología , Compresión de la Médula Espinal/cirugía , Linfoma de Células B Grandes Difuso/complicaciones , Linfoma de Células B Grandes Difuso/diagnóstico por imagen
12.
JAMA Health Forum ; 4(8): e232320, 2023 08 04.
Artículo en Inglés | MEDLINE | ID: mdl-37566429

RESUMEN

Importance: Down syndrome is the leading genetic cause of intellectual disability and automatically qualifies individuals for Social Security Insurance. Therefore, Medicaid is the major health insurance provider for a population at high risk for dementia, obesity, and premature mortality. Despite the importance of Medicaid for adults with Down syndrome, little is known about how this population uses Medicaid. Objective: To describe enrollment in, health care use in, and cost to Medicaid for adults with Down syndrome compared with adults with intellectual disability and a random sample of adults enrolled in Medicaid. Design, Setting, and Participants: In this cohort study, the data are from a claims cohort of adults aged 18 years or older enrolled in Medicaid at any point between January 1, 2011, and December 31, 2019. Participants were enrollees with 1 or more inpatient claim or 2 or more other claims with an International Classification of Diseases, Ninth Revision code or an International Statistical Classification of Diseases and Related Health Problems, Tenth Revision code for Down syndrome or intellectual disability as well as a random sample of those without developmental disability. Analyses were conducted from June 2022 to February 2023. Main Outcomes and Measures: Data were linked across 2 data reporting systems. Main outcomes were enrollee demographic characteristics, enrollment characteristics, cost, and service use. Results: This cohort study included 123 024 individuals with Down syndrome (820 273 person-years of coverage; mean [SD] age, 35 [14.7] years; median age, 33 years [IQR, 21-48 years]; 51.6% men; 14.1% Black individuals; 16.7% Hispanic individuals; and 74.6% White individuals), 1 182 246 individuals with intellectual disability (mean [SD] age, 37.1 [16.8] years; median age, 33 years [IQR, 22-50 years]; 56.5% men; 22.0% Black individuals; 11.7% Hispanic individuals; and 69.5% White individuals), and 3 176 371 individuals with no developmental disabilities (mean [SD] age, 38 [18.6] years; median age, 33 years [IQR, 21-52 years]; 43.8% men; 23.7% Black individuals; 20.7% Hispanic individuals; and 61.3% White individuals). Median enrollment in Medicaid for a person with Down syndrome was 8.0 years (IQR, 5.0-9.0 years; mean [SD], 6.6 [2.6] years). Costs were higher for the Down syndrome group (median, $26 278 per person-year [IQR, $11 145-$55 928 per person-year]) relative to the group with no developmental disabilities (median, $6173 per person-year [IQR, $868-$58 390 per person-year]). Asian, Black, Hispanic, Native American, and Pacific Islander adults with Down syndrome had fewer costs and claims per person-year compared with White adults with Down syndrome. Conclusion and Relevance: This cohort study of individuals with Down syndrome enrolled in Medicaid found consistent enrollment and high use of health care in a population with high health care needs. Results were similar comparing individuals with Down syndrome and those with intellectual disability, with both groups differing from a sample of Medicaid enrollees with no developmental disabilities. Medicaid data are a useful tool for understanding the health and well-being of individuals with Down syndrome.


Asunto(s)
Síndrome de Down , Discapacidad Intelectual , Masculino , Estados Unidos/epidemiología , Humanos , Adulto , Femenino , Medicaid , Estudios de Cohortes , Síndrome de Down/epidemiología , Síndrome de Down/terapia , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/terapia , Seguro de Salud
13.
Am J Intellect Dev Disabil ; 128(4): 273-281, 2023 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-37470258

RESUMEN

Individuals with Down syndrome (DS) have been disproportionately harmed by the COVID-19 pandemic and may have been more likely to have sacrificed opportunity and activity to avoid potential exposures. Our objective was to describe the experience one to one and half years into the COVID-19 pandemic for adults with DS, as reported by their caregivers in an online survey conducted between April 2021 and September of 2021. In our sample of 438 adults with DS, caregivers reported that adults with DS lost activities, struggled with employment, had negative behavioral changes, lost skills, and developed more mental health conditions. For adults with DS, one in five caregivers reported less healthcare usage, one in four reported delayed routine care, and 86.5% reported lost activities. As the pandemic continues, targeted support for adults with DS is needed to prevent further skill loss and mental health conditions.


Asunto(s)
COVID-19 , Síndrome de Down , Humanos , Adulto , Síndrome de Down/epidemiología , Pandemias , Cuidadores/psicología , Atención a la Salud
14.
J Biol Chem ; 299(8): 104939, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37331602

RESUMEN

The relationship between lipid homeostasis and protein homeostasis (proteostasis) is complex and remains incompletely understood. We conducted a screen for genes required for efficient degradation of Deg1-Sec62, a model aberrant translocon-associated substrate of the endoplasmic reticulum (ER) ubiquitin ligase Hrd1, in Saccharomyces cerevisiae. This screen revealed that INO4 is required for efficient Deg1-Sec62 degradation. INO4 encodes one subunit of the Ino2/Ino4 heterodimeric transcription factor, which regulates expression of genes required for lipid biosynthesis. Deg1-Sec62 degradation was also impaired by mutation of genes encoding several enzymes mediating phospholipid and sterol biosynthesis. The degradation defect in ino4Δ yeast was rescued by supplementation with metabolites whose synthesis and uptake are mediated by Ino2/Ino4 targets. Stabilization of a panel of substrates of the Hrd1 and Doa10 ER ubiquitin ligases by INO4 deletion indicates ER protein quality control is generally sensitive to perturbed lipid homeostasis. Loss of INO4 sensitized yeast to proteotoxic stress, suggesting a broad requirement for lipid homeostasis in maintaining proteostasis. A better understanding of the dynamic relationship between lipid homeostasis and proteostasis may lead to improved understanding and treatment of several human diseases associated with altered lipid biosynthesis.


Asunto(s)
Degradación Asociada con el Retículo Endoplásmico , Lípidos , Proteínas de Saccharomyces cerevisiae , Antiinfecciosos/farmacología , Farmacorresistencia Fúngica/genética , Degradación Asociada con el Retículo Endoplásmico/genética , Higromicina B/farmacología , Lípidos/biosíntesis , Mutación , Saccharomyces cerevisiae/efectos de los fármacos , Saccharomyces cerevisiae/metabolismo , Proteínas de Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/metabolismo
15.
Res Involv Engagem ; 9(1): 44, 2023 Jun 19.
Artículo en Inglés | MEDLINE | ID: mdl-37337242

RESUMEN

Individuals with intellectual and developmental disabilities are often the subject of research while rarely being included in formulating research questions, planning studies, and making decisions related to protocols and analyses. In turn, most research regarding people with intellectual and developmental disabilities is not carried out by researchers with disabilities themselves. We developed a co-research training program where individuals with intellectual and developmental disabilities were taught about research. The program was designed using best practices and existing materials resources. We recruited four participants from Special Olympics Massachusetts and conducted the training in the Fall of 2021. We evaluated the program with surveys, qualitative interviews, and tracking continued involvement of co-researchers in research projects. Participants were partners in the evaluation process. The training program was six sessions and included lessons about why research is important, how to conduct research, and an experiential learning project where co-researchers conducted a study of their coaches. The program was well received by participants, and one year later they were still involved with research projects. A co-researcher training focused on public health for Special Olympics athletes is feasible and beneficial for athletes, researchers, and Special Olympics programs. However, there are still barriers like a lack of funding and time, that need to be addressed to ensure wide program success.


Co-research offers people with intellectual and developmental disabilities an opportunity to conduct research, rather than be the subjects. We developed a six-session co-researcher training in 2021 focused on public health for Special Olympics athletes. We found that co-research is feasible and rewarding for people with intellectual and developmental disabilities. Additional co-research activities and evaluation are needed. Special Olympics already conducts public health research activities and co-research training could be incorporated.

16.
Pediatrics ; 151(4)2023 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-36974607

RESUMEN

OBJECTIVE: To quantify students with disabilities experiencing homelessness in the Northeastern and Mid-Atlantic US state and district public schools and compare them with those without disabilities. METHODS: Data were compiled from state departments of education and federal homelessness data and were merged by using the Local Education Agency identifier. We calculated the proportion of students with and without disabilities experiencing homelessness and corresponding relative risk 95% confidence intervals. We examined changes in homelessness in Massachusetts counties compared with the 2018 to 2019 school year. RESULTS: Across the 7 states and Washington, DC, 4.7% of students with disabilities experienced homelessness, 58% greater than the percentage of students without disabilities (95% confidence interval 1.57-1.59). The highest proportion of students with disabilities experiencing homelessness was in Washington, DC, and New York, with the lowest proportion in Connecticut. There was little change comparing 2018 to 2019 with 2019 to 2020 statistics in Massachusetts. CONCLUSIONS: Quantifying students with disabilities experiencing homelessness provides policymakers with valuable information to be able to act to better support these students. Variations by state/district and time highlight the need for continued data collection and aggregation.


Asunto(s)
Personas con Discapacidad , Personas con Mala Vivienda , Humanos , Estudiantes , Massachusetts/epidemiología , Problemas Sociales
17.
MicroPubl Biol ; 20232023.
Artículo en Inglés | MEDLINE | ID: mdl-36818312

RESUMEN

Receptor-mediated autophagic turnover of portions of the endoplasmic reticulum (ER) is mediated by macro-ER-phagy. We hypothesized macro-ER-phagy promotes proteotoxic stress resistance. We predicted Saccharomyces cerevisiae lacking macro-ER-phagy receptors would exhibit enhanced sensitivity to hygromycin B, which reduces translational fidelity and is expected to globally disrupt protein homeostasis, including at the ER. We observed that loss of either of two yeast macro-ER-phagy receptors (Atg39p or Atg40p) compromised cellular resistance to hygromycin B to a similar extent as loss of ER-associated degradation (ERAD) ubiquitin ligases Hrd1p and Doa10p. Our data are consistent with a model whereby macro-ER-phagy and ERAD collaborate to mediate ER protein quality control. Disruptions of macro-ER-phagy have been linked to neuropathy, dementia, and cancer. A dampened capacity to mediate protein quality control may contribute to these conditions.

18.
Birth Defects Res ; 114(14): 785-796, 2022 08 15.
Artículo en Inglés | MEDLINE | ID: mdl-35652163

RESUMEN

BACKGROUND: Medication use during pregnancy is common, with up to 90% of pregnant women taking at least one medication. Women with congenital physical disabilities often report co-occurring conditions during pregnancy that may warrant pharmaceutical treatment, however, research is limited. We aim to describe medication use during pregnancy including: pain, psychotropic, and antibacterial medication, among women with and without congenital physical disabilities. METHODS: We used data from the Slone Birth Defects Study (1976-2015), a case-control study that collected information on pre-pregnancy health conditions and exposures among participating mothers. Women with congenital physical disabilities (n = 132) included women with spina bifida, cerebral palsy, muscular dystrophy, limb deficiencies, and other skeletal/connective tissue conditions and were matched by interview year and study site to women without congenital physical disabilities (n = 528). Proportions and difference in proportions for each medication were compared between groups. Simple proportions were also calculated for duration and multiple medication use variables. RESULTS: Women with congenital physical disabilities more frequently reported use of pain (acetaminophen and opioids), psychotropic (antidepressants), and antibacterial medications during pregnancy. Women with congenital physical disabilities used pain and psychotropic medications for longer, frequent durations, and more frequently reported haven taken multiple medications during pregnancy. CONCLUSION: Women with congenital physical disabilities report higher medication use during pregnancy compared to women without physical disabilities. Patterns may be attributable to co-occurring conditions or increased risk of pregnancy complications in this population. Further research is needed to describe the patterns of medication use for clinical decisions regarding treatment of pregnant women with disabilities.


Asunto(s)
Personas con Discapacidad , Complicaciones del Embarazo , Antibacterianos/uso terapéutico , Estudios de Casos y Controles , Femenino , Humanos , Dolor , Embarazo , Complicaciones del Embarazo/tratamiento farmacológico , Complicaciones del Embarazo/epidemiología
20.
Disabil Health J ; 15(3): 101321, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35430181

RESUMEN

BACKGROUND: Women with intellectual and developmental disabilities (IDD) face stigma and inequity surrounding opportunity and care during pregnancy. Little work has quantified fertility rates among women with IDD which prevents proper allocation of care. OBJECTIVE: Our objective was to cross-sectionally describe fertility patterns among women with and without intellectual and developmental disabilities (IDD) in 10-years of Medicaid-linked birth records. STUDY DESIGN: Our sample was Medicaid-enrolled women with live births in Wisconsin from 2007 to 2016. We identified IDD through prepregnancy Medicaid claims. We calculated general fertility-, age-specific-, and the total fertility-rates and 95% confidence intervals (95% CI) for women with and without IDD and generated estimates by year and IDD-type. RESULTS: General fertility rate in women with IDD was 62.1 births per 1000 women with IDD (95% CI 59.2, 64.9 per 1000 women) and 77.1 per 1000 for women without IDD (95% CI: 76.8, 77.4 per 1000 women). General fertility rate ratio was 0.81 (95% CI: 0.7, 0.9). Total fertility was 1.80 births per woman with IDD and 2.05 births per woman without IDD (rate ratio: 0.89 95% CI: 0.5, 1.5). Peak fertility occurred later for autistic women (30-34 years), compared with women with other IDD (20-24 years). CONCLUSION: In Wisconsin Medicaid, general fertility rate of women with IDD was lower than women without IDD: the difference was attenuated when accounting for differing age distributions. Results highlight the disparities women with IDD face and the importance of allocating pregnancy care within Medicaid.


Asunto(s)
Personas con Discapacidad , Discapacidad Intelectual , Tasa de Natalidad , Niño , Discapacidades del Desarrollo/complicaciones , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Medicaid , Embarazo , Estados Unidos , Wisconsin
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