| 1. |
- Bölte, Sven, et al.
(författare)
-
Sex and gender in neurodevelopmental conditions
- 2023
-
Ingår i: Nature Reviews Neurology. - : Springer Science and Business Media LLC. - 1759-4758 .- 1759-4766. ; 19:3, s. 136-159
-
Tidskriftsartikel (refereegranskat)abstract
- Health-related conditions often differ qualitatively or quantitatively between individuals of different birth-assigned sexes and gender identities, and/or with different gendered experiences, requiring tailored care. Studying the moderating and mediating effects of sex-related and gender-related factors on impairment, disability, wellbeing and health is of paramount importance especially for neurodivergent individuals, who are diagnosed with neurodevelopmental conditions with uneven sex/gender distributions. Researchers have become aware of the myriad influences that sex-related and gender-related variables have on the manifestations of neurodevelopmental conditions, and contemporary work has begun to investigate the mechanisms through which these effects are mediated. Here we describe topical concepts of sex and gender science, summarize current knowledge, and discuss research and clinical challenges related to autism, attention-deficit/hyperactivity disorder and other neurodevelopmental conditions. We consider sex and gender in the context of epidemiology, behavioural phenotypes, neurobiology, genetics, endocrinology and neighbouring disciplines. The available evidence supports the view that sex and gender are important contributors to the biological and behavioural variability in neurodevelopmental conditions. Methodological caveats such as frequent conflation of sex and gender constructs, inappropriate measurement of these constructs and under-representation of specific demographic groups (for example, female and gender minority individuals and people with intellectual disabilities) limit the translational potential of research so far. Future research and clinical implementation should integrate sex and gender into next-generation diagnostics, mechanistic investigations and support practices.
|
|
| 2. |
- Curtin, Paul, et al.
(författare)
-
Associations between Elemental Metabolic Dynamics and Default Mode Network Functional Connectivity Are Altered in Autism.
- 2023
-
Ingår i: Journal of clinical medicine. - : MDPI. - 2077-0383. ; 12:3
-
Tidskriftsartikel (refereegranskat)abstract
- Autism is a neurodevelopmental condition associated with atypical social communication, cognitive, and sensory faculties. Recent advances in exposure biology suggest that biomarkers of elemental uptake and metabolism measured in hair samples can yield an effective signal predictive of autism diagnosis. Here, we investigated if elemental biomarkers in hair were associated with functional connectivity in regions of the default mode network (DMN) previously linked to autism. In a study sample which included twin pairs with concordant and discordant diagnoses for autism, our analysis of hair samples and neuroimaging data supported two general findings. First, independent of autism diagnosis, we found a broad pattern of association between elemental biomarkers and functional connectivity in the DMN, which primarily involved dynamics in zinc metabolism. Second, we found that associations between the DMN and elemental biomarkers, particularly involving phosphorus, calcium, manganese, and magnesium, differed significantly in autistic participants from control participants. In sum, these findings suggest that functional dynamics in elemental metabolism relate broadly to persistent patterns of functional connectivity in the DMN, and that these associations are altered in the emergence of autism.
|
|
| 3. |
- Jonsdottir, Lilja Kristin, et al.
(författare)
-
Autistic children quickly orient away from both eyes and mouths during face observation
- 2023
-
Ingår i: Journal of autism and developmental disorders. - : Springer Nature. - 0162-3257 .- 1573-3432. ; 53:1, s. 495-502
-
Tidskriftsartikel (refereegranskat)abstract
- Studies have supported two different hypotheses of reduced eye gaze in people with ASD; gaze avoidance and gaze indifference, while less is known about the role of anxiety. We tested these hypotheses using an eye-tracking paradigm that cued the eyes or mouth of emotional faces. Autistic children (n = 12, mean age 7 years) looked faster away from both eyes and mouths than controls (n = 22). This effect was not explained by anxiety symptoms. No difference was found in latency towards either area. These results indicate that attentional avoidance of autistic children is not specific to eyes, and that they do not show attentional indifference to eyes compared to controls. Atypicalities in visual scanning in ASD are possibly unrelated to specific facial areas.
|
|
| 4. |
- Mataix-Cols, David, et al.
(författare)
-
In search of environmental risk factors for obsessive-compulsive disorder : study protocol for the OCDTWIN project
- 2023
-
Ingår i: BMC Psychiatry. - 1471-244X. ; 23:1
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The causes of obsessive-compulsive disorder (OCD) remain unknown. Gene-searching efforts are well underway, but the identification of environmental risk factors is at least as important and should be a priority because some of them may be amenable to prevention or early intervention strategies. Genetically informative studies, particularly those employing the discordant monozygotic (MZ) twin design, are ideally suited to study environmental risk factors. This protocol paper describes the study rationale, aims, and methods of OCDTWIN, an open cohort of MZ twin pairs who are discordant for the diagnosis of OCD. Methods: OCDTWIN has two broad aims. In Aim 1, we are recruiting MZ twin pairs from across Sweden, conducting thorough clinical assessments, and building a biobank of biological specimens, including blood, saliva, urine, stool, hair, nails, and multimodal brain imaging. A wealth of early life exposures (e.g., perinatal variables, health-related information, psychosocial stressors) are available through linkage with the nationwide registers and the Swedish Twin Registry. Blood spots stored in the Swedish phenylketonuria (PKU) biobank will be available to extract DNA, proteins, and metabolites, providing an invaluable source of biomaterial taken at birth. In Aim 2, we will perform within-pair comparisons of discordant MZ twins, which will allow us to isolate unique environmental risk factors that are in the causal pathway to OCD, while strictly controlling for genetic and early shared environmental influences. To date (May 2023), 43 pairs of twins (21 discordant for OCD) have been recruited. Discussion: OCDTWIN hopes to generate unique insights into environmental risk factors that are in the causal pathway to OCD, some of which have the potential of being actionable targets.
|
|
| 5. |
- Rehm, Jürgen, et al.
(författare)
-
Classifying alcohol control policies enacted between 2000 and 2020 in Poland and the Baltic countries to model potential impact
- 2023
-
Ingår i: Addiction. - : Wiley. - 0965-2140 .- 1360-0443. ; 118:3, s. 449-458
-
Tidskriftsartikel (refereegranskat)abstract
- Aims: The study's aim is to identify and classify the most important alcohol control policies in the Baltic countries (Estonia, Latvia and Lithuania) and Poland between 2000 and 2020.Methods: Policy analysis of Baltic countries and Poland, predicting potential policy impact on alcohol consumption, all-cause mortality and alcohol-attributable hospitalizations was discussed.Results: All Baltic countries implemented stringent availability restrictions on off-premises trading hours and different degrees of taxation increases to reduce the affordability of alcoholic beverages, as well as various degrees of bans on alcohol marketing. In contrast, Poland implemented few excise taxation increases or availability restrictions and, in fact, reduced stipulations on prior marketing bans.Conclusions: This classification of alcohol control policies in the Baltic countries and Poland provides a basis for future modeling of the impact of implementing effective alcohol control policies (Baltic countries), as well as the effects of loosening such policies (Poland).
|
|
| 6. |
- Rehm, Jürgen, et al.
(författare)
-
Impact of the WHO "best buys" for alcohol policy on consumption and health in the Baltic countries and Poland 2000-2020
- 2023
-
Ingår i: The Lancet Regional Health. - 2666-7762. ; 33
-
Tidskriftsartikel (refereegranskat)abstract
- Alcohol use is a major risk factor for burden of disease. This narrative review aims to document the effects of major alcohol control policies, in particular taxation increases and availability restrictions in the three Baltic countries (Estonia, Latvia, and Lithuania) between 2000 and 2020. These measures have been successful in curbing alcohol sales, in general without increasing consumption of alcoholic beverages from unrecorded sources; although for more recent changes this may have been partly due to the COVID-19 pandemic. Moreover, findings from time -series analyses suggest improved health, measured as reductions in all -cause and alcohol -attributable mortality, as well as narrowing absolute mortality inequalities between lower and higher educated groups. For most outcomes, there were sex differences observed, with alcohol control policies more strongly affecting males. In contrast to this successful path, alcohol control policies were mostly dismantled in the neighbouring country of Poland, resulting in a rising death toll due to liver cirrhosis and other alcohol -attributable deaths. The natural experiment in this region of high -income European countries with high consumption levels highlights the importance of effective alcohol control policies for improving population health.
|
|
