Background: Pregnancy in women with intellectual disability (ID) is increasingly recognised, along with their increased likelihood of experiencing risk factors for adverse pregnancy and infant outcomes.
Objectives: We aimed to compare risks of socio-demographic, pregnancy and infant outcomes of women with ID to other women.
Methods: All mothers with children born in Western Australia from 1983 to 2012 were linked to the population-based Intellectual Disability Exploring Answers database. Mothers with ID were matched by age and Aboriginality to a population sample of mothers without ID. Pregnancy and birth outcomes were compared for both groups and logistic regression was used to compare outcome risks.
Results: Compared to non-Aboriginal mothers without ID, non-Aboriginal mothers with ID were more likely to be of low socio-economic status, be without partner, smoke antenatally and have pre-existing asthma. They had a 1.5 times increased risk of pregnancy complications, specifically pre-eclampsia, urinary tract infection, threatened preterm labour and post-partum haemorrhage. After adjustment for maternal medical conditions and pregnancy complications, infants of Aboriginal mothers with ID had twice the risk of preterm birth and 1.6 times the risk of having percentage of optimal head circumference <95% compared to infants of Aboriginal mothers without ID. Infants of both Aboriginal and non-Aboriginal mothers with ID were more likely to have percentage of optimal birth weight <85% compared to those without ID.
Conclusions: For mothers with ID, modifiable risk factors for adverse outcomes need addressing. They may require additional assistance during pregnancy, including more frequent consultations and support to assist with pregnancy management.
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http://dx.doi.org/10.1016/j.dhjo.2019.100871 | DOI Listing |
Acta Neuropathol
January 2025
Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.
Down syndrome (DS) is strongly associated with Alzheimer's disease (AD) due to APP overexpression, exhibiting Amyloid-β (Aβ) and Tau pathology similar to early-onset (EOAD) and late-onset AD (LOAD). We evaluated the Aβ plaque proteome of DS, EOAD, and LOAD using unbiased localized proteomics on post-mortem paraffin-embedded tissues from four cohorts (n = 20/group): DS (59.8 ± 4.
View Article and Find Full Text PDFJ Appl Res Intellect Disabil
January 2025
Tranzo, Tilburg School of Social and Behavioral Sciences, Tilburg University, Tilburg, The Netherlands.
Background: The Needs Assessment Framework (NAF) stimulates awareness of care staff to consider perspectives of clients with intellectual disabilities in decisions on involuntary care. We explored the effect of implementers' participation in a Virtual Community-of-Practice (VCoP) for designing implementation plans, on NAF implementation and staff awareness.
Method: A quasi-experimental design was used to compare implementation and awareness by care staff (n = 54) between organisations that implemented NAF with VCoP participation (N = 4) and organisations that implemented NAF as usual (N = 3).
Arch Womens Ment Health
January 2025
Erasmus MC - Sophia Children's Hospital, Department Obstetrics and Gynaecology, Division Obstetrics and Fetal Medicine, University Medical Centre Rotterdam, Dr. Molewaterplein 40, 3015 GD, Rotterdam, South Holland, The Netherlands.
Purpose: Psychosocial risk factors are frequently present in pregnant women and are associated with adverse maternal and neonatal outcomes. Professional guidelines recommend early detection of vulnerability and provision of multidisciplinary care, including an integrated care plan for pregnant women with social factors, such as residing in deprived areas, teenage pregnancy, and psychiatric illness. However, to date, such approach is impeded by lack of data on co-occurrence of vulnerability.
View Article and Find Full Text PDFGesundheitswesen
January 2025
Lehrstuhl für Medizinmanagement, Universität Duisburg-Essen, Essen, Germany.
Compared to the general population, individuals with Down syndrome carry a much higher genetic risk of developing early onset Alzheimer's dementia. This leads to unique challenges and the need for a targeted patient journey.In a qualitative interview study with medical professionals, patient organisations and formal and informal care persons, we assessed barriers within the medical care process of this patient group as well as current approaches to overcome these problems.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Disease, University of Tübingen, Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE). Electronic address:
Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy.
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