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Journal of Child Psychology and... Mar 2022Difficulties initiating and maintaining sleep (DIMS) are frequent features of autism, yet little is known about why these conditions co-occur. One possibility is that...
BACKGROUND
Difficulties initiating and maintaining sleep (DIMS) are frequent features of autism, yet little is known about why these conditions co-occur. One possibility is that they share etiological factors, yet this hypothesis remains to be tested using quantitative genetic designs. We thus investigated etiological links between autism and DIMS using familial co-aggregation and twin methods.
METHODS
Twins, siblings, half-siblings, and cousins of 50,097 individuals with autism were identified from Swedish population registries. Their risk of DIMS, defined through diagnoses of insomnia and/or melatonin prescriptions, was then estimated. Twin analyses conducted on 15,279 child and adolescent twin pairs investigated etiological links between DIMS and ASD.
RESULTS
22.8% of autistic individuals had DIMS. Monozygotic co-twins of individuals with autism were most at risk of DIMS compared to the reference group (OR = 6.6 [2.5-17.4]), followed by dizygotic co-twins (OR = 2.6 [1.5-4.5]) and full siblings (OR = 2.5 [2.4-2.6]). Half-siblings and cousins of individuals with autism were least likely to have DIMS relative to the reference group (OR range = 1.3-1.5). Twin analyses estimated a correlation of 0.57 (0.53-0.61) between autism and DIMS, with a genetic correlation of 0.62 (0.60-0.68). These overlapping genetic factors explained 94% of the covariance between these conditions. Autistic traits also showed genetic overlap with DIMS.
CONCLUSIONS
Our results suggest that shared genetic mechanisms underlie autism and DIMS, which may lead them to co-occur. Untangling the etiological overlap between these conditions has potential to assist in understanding the etiology of each condition, as well as their associated outcomes.
Topics: Adolescent; Autistic Disorder; Child; Diseases in Twins; Humans; Sleep; Twins, Dizygotic; Twins, Monozygotic
PubMed: 34213012
DOI: 10.1111/jcpp.13473 -
Twin Research and Human Genetics : the... Aug 2020The aim of the study was to examine the Family and School Psychosocial Environment (FSPE) questionnaire in relation to a possible genotype-environment correlation and...
The aim of the study was to examine the Family and School Psychosocial Environment (FSPE) questionnaire in relation to a possible genotype-environment correlation and genetic mediation between the FSPE variables and personality variables, assessed by the Junior Eysenck Personality Questionnaire. A sample of 506 Swedish children aged 10-20 years from 253 families were recruited via the Swedish state population and address register and SchoolList.Eu. The children were divided into 253 pairs: 46 monozygotic twin pairs, 42 dizygotic twin pairs, 140 pairs of full siblings and 25 pairs of half-siblings. The behavioral genetic analysis showed that both FSPE factors, Warmth and Conflicts, may be partly influenced by genetic factors (suggesting genotype-environment correlation) and that nonadditive genetic factors may mediate the relationship between FSPE factors and psychoticism/antisocial personality (P). An indication of a special shared monozygotic twin environment was found for P and Lie/social desirability, but based on prior research findings this factor may have a minor influence on P and L. P and L were negatively correlated, and the relationship seems to be partly mediated by nonadditive genetic factors. Nonshared environment and measurement errors seem to be the most influential mediating factors, but none of the cross-twin cross-dimension correlations suggest a common shared environmental mediating factor.
Topics: Adolescent; Child; Gene-Environment Interaction; Genotype; Humans; Personality; Sweden; Twins, Dizygotic; Twins, Monozygotic; Young Adult
PubMed: 32772950
DOI: 10.1017/thg.2020.63 -
Genes Sep 2023Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently...
Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a multifactorial etiology, including epigenetic gene expression modifications, is considered. The study included six pairs of twins (three pairs of monozygotic twins and three pairs of dizygotic twins) in which one child was born with EA as an isolated defect, while the other twin was healthy. DNA samples were obtained from the blood and esophageal tissue of the child with EA as well as from the blood of the healthy twin. The reduced representation bisulfite sequencing (RRBS) technique was employed for a whole-genome methylation analysis. The analyses focused on comparing the CpG island methylation profiles between patients with EA and their healthy siblings. Hypermethylation in the promoters of 219 genes and hypomethylation in the promoters of 78 genes were observed. A pathway enrichment analysis revealed the statistically significant differences in methylation profile of 10 hypermethylated genes in the Rho GTPase pathway, previously undescribed in the field of EA (, and ).
Topics: Male; Child; Humans; Esophageal Atresia; Twins, Monozygotic; Twins, Dizygotic; CpG Islands; Epigenesis, Genetic; Proto-Oncogene Proteins; Guanine Nucleotide Exchange Factors; Rho Guanine Nucleotide Exchange Factors
PubMed: 37761962
DOI: 10.3390/genes14091822 -
Journal of Speech, Language, and... Oct 2020Purpose This review article summarizes a program of longitudinal investigation of twins' language acquisition with a focus on causal pathways for specific language... (Review)
Review
Purpose This review article summarizes a program of longitudinal investigation of twins' language acquisition with a focus on causal pathways for specific language impairment (SLI) and nonspecific language impairment in children at 4 and 6 years with known history at 2 years. Method The context of the overview is established by legacy scientific papers in genetics, language, and SLI. Five recent studies of twins are summarized, from 2 to 16 years of age, with a longitudinal perspective of heritability over multiple speech, language, and cognitive phenotypes. Results Replicated moderate-to-high heritability is reported across ages, phenotypes, full population estimates, and estimates for clinical groups. Key outcomes are documentation of a twinning effect of risk for late language acquisition in twins that persists through 6 years of age, greater for monozygotic than dizygotic twins (although zygosity effects disappear at 6 years); heritability is greater for grammar and morphosyntax than other linguistic dimensions, from age 2 years through age 16 years, replicated within twin samples at subsequent age levels and across twin samples at age 16 years. Conclusion There is consistent support for legacy models of genetic influences on language acquisition, updated with a more precise growth signaling disruption model supported by twin data, as well as singleton data of children with SLI and nonspecific language impairment. Presentation Video https://doi.org/10.23641/asha.13063727.
Topics: Adolescent; Child; Child, Preschool; Humans; Language Development; Specific Language Disorder; Speech; Twins, Dizygotic; Twins, Monozygotic
PubMed: 33064600
DOI: 10.1044/2020_JSLHR-20-00169 -
Osteoarthritis and Cartilage Jul 2021To estimate the genetic contribution to traumatic and degenerative meniscus tears for men and women across the lifespan.
OBJECTIVE
To estimate the genetic contribution to traumatic and degenerative meniscus tears for men and women across the lifespan.
METHODS
We linked the Swedish Twin Register with individual-level national healthcare data to form a 30-year, population-wide, longitudinal twin cohort. To study genetic contribution to meniscus tears, we estimated the heritability and familial risk using incident traumatic and degenerative tear diagnostic codes in a cohort of 88,414 monozygotic and dizygotic twin-pairs, aged ≥17 years.
RESULTS
During follow-up, 3,372 (3.8%) of 88,414 twins were diagnosed with a traumatic or degenerative meniscus tear. The heritability was 0.39 (95% CI = 0.32-0.47) for men and 0.43 (95% CI = 0.36-0.50) for women, and did not vary by age. Environmental factors that were unique to each twin in a pair explained a greater proportion of the variance than genetic factors, both for men (0.61, 95% CI = 0.53-0.68) and women (0.57, 95% CI = 0.50-0.64). Separate analyses of traumatic vs degenerative meniscus tears yielded similar results.
CONCLUSION
For the first time, we have estimated the genetic contribution to doctor-diagnosed meniscus tears using a twin study design. We found a relatively low to modest heritability for meniscus tears (∼40%). The heritability was also fairly stable over the lifespan, and equal in both men and women. Our findings suggest that environmental risk factors are a more important contributor to both traumatic and degenerative doctor-diagnosed meniscus tears than genetic factors.
Topics: Adolescent; Adult; Cohort Studies; Female; Genetic Predisposition to Disease; Humans; Longitudinal Studies; Male; Middle Aged; Risk Factors; Sweden; Tibial Meniscus Injuries; Twins, Dizygotic; Twins, Monozygotic; Young Adult
PubMed: 33744431
DOI: 10.1016/j.joca.2021.03.005 -
Scientific Reports Aug 2022Both genetic and environmental influences have been proposed to contribute to the variance of gender identity and development of gender dysphoria (GD), but the magnitude...
Both genetic and environmental influences have been proposed to contribute to the variance of gender identity and development of gender dysphoria (GD), but the magnitude of the effect of each component remains unclear. We aimed to examine the prevalence of GD among twins and non-twin siblings of individuals with GD, using data derived from a large register-based population in Sweden over the period 2001-2016. Register data was collected from the Statistics Sweden and the National Board of Health and Welfare. The outcome of interest was defined as at least four diagnoses of GD or at least one diagnosis followed by gender-affirming treatment. A total of 2592 full siblings to GD cases were registered, of which 67 were twins; age at first GD diagnosis for the probands ranged from 11.2 to 64.2 years. No same-sex twins that both presented with GD were identified during the study period. The proportion of different-sex twins both presenting with GD (37%) was higher than that in same-sex twins (0%, Fisher's exact test p-value < 0.001) and in non-twin sibling pairs (0.16%). The present findings suggest that familial factors, mainly confined to shared environmental influences during the intrauterine period, seem to contribute to the development of GD.
Topics: Adolescent; Adult; Child; Diseases in Twins; Female; Gender Dysphoria; Gender Identity; Humans; Male; Middle Aged; Registries; Siblings; Twins; Twins, Dizygotic; Twins, Monozygotic; Young Adult
PubMed: 35927439
DOI: 10.1038/s41598-022-17749-0 -
Pain Mar 2022Data on the etiological factors underlying the co-occurrence of common adolescent pain with anxiety and depression symptoms are very limited. Opioid prescriptions for...
Data on the etiological factors underlying the co-occurrence of common adolescent pain with anxiety and depression symptoms are very limited. Opioid prescriptions for adolescent pain problems are on the rise in North America and constitute a risk factor for diversion, misuse, and substance use. In this study, we aimed to investigate the phenotypic and etiological association among pain, depression, and anxiety and to test their link to substance use in adolescents. By taking advantage of the Italian National Twin Registry and of the relatively low incidence of opioid prescriptions in Italy, we applied multivariate modelling analyses to 748 Italian adolescent twins (374 pairs, mean age 16 ± 1.24 years). Twins' responses to the Achenbach Youth Self-Report questionnaire were used to build a composite adolescent pain index and to measure anxiety, depression, and substance use. All monozygotic within-pair correlations were higher than the dizygotic correlations, indicating genetic influences for adolescent pain, anxiety, and depressive problems. A common latent liability factor influenced by genetic and environmental elements shared among pain, depression, and anxiety provided the best fit to explain the co-occurrence of adolescent pain, anxiety, and depression problems. A common phenotypic factor capturing all 3 phenotypes was positively associated (β = 0.19, P < 0.001, confidence interval: 0.10-0.27) with substance use. These findings indicate that several intertwined mechanisms, including genetic factors, can explain a shared liability to common adolescent pain, anxiety, and depression problems. Their association with substance use remains traceable even in societies with relatively low prevalence of opioid prescriptions.
Topics: Adolescent; Anxiety; Anxiety Disorders; Diseases in Twins; Humans; Pain; Substance-Related Disorders; Twins, Dizygotic; Twins, Monozygotic
PubMed: 34294665
DOI: 10.1097/j.pain.0000000000002400 -
Journal of Child Psychology and... Apr 2020Autism Spectrum Disorder (ASD) is associated with altered global and local visual processing. However, the nature of these alterations remains controversial, with...
BACKGROUND
Autism Spectrum Disorder (ASD) is associated with altered global and local visual processing. However, the nature of these alterations remains controversial, with contradictory findings and notions ranging from a reduced drive to integrate information into a coherent 'gestalt' ("weak central coherence" = WCC) to an enhanced perceptual functioning (EPF) in local processing.
METHODS
This study assessed the association between autism and global/local visual processing, using a large sample of monozygotic (MZ) and dizygotic (DZ) twins (N = 290, 48% females, age = 8-31 years). The Fragmented Pictures Test (FPT) assessed global processing, whereas local processing was estimated with the Embedded Figures Test (EFT) and the Block Design Test (BDT). Autism was assessed both categorically (clinical diagnosis), and dimensionally (autistic traits). Associations between visual tasks and autism were estimated both across the cohort and within-twin pairs where all factors shared between twins are implicitly controlled.
RESULTS
Clinical diagnosis and autistic traits predicted a need for more visual information for gestalt processing in the FPT across the cohort. For clinical diagnosis, this association remained within-pairs and at trend-level even within MZ twin pairs alone. ASD and higher autistic traits predicted lower EFT and BDT performance across the cohort, but these associations were lost within-pairs.
CONCLUSIONS
In line with the WCC account, our findings indicate an association between autism and reduced global visual processing in children, adolescents and young adults (but no evidence for EPF). Observing a similar association within MZ twins suggests a non-shared environmental contribution.
Topics: Adolescent; Adult; Autism Spectrum Disorder; Child; Female; Humans; Male; Twins, Dizygotic; Twins, Monozygotic; Visual Perception; Young Adult
PubMed: 31452200
DOI: 10.1111/jcpp.13120 -
Alzheimer's & Dementia : the Journal of... Mar 2024Dementia predicts increased mortality. We used case-control and co-twin control models to investigate genetic and shared environmental influences on this association.
INTRODUCTION
Dementia predicts increased mortality. We used case-control and co-twin control models to investigate genetic and shared environmental influences on this association.
METHODS
Case-control design, including 987 twins with dementia and 2938 age- and sex-matched controls in the Swedish Twin Registry. Co-twin control design, including 90 monozygotic (MZ) and 288 dizygotic (DZ) twin pairs discordant for dementia. To test for genetic and environmental confounding, differences were examined in mortality risk between twins with dementia and their matched or co-twin controls.
RESULTS
Twins with dementia showed greater mortality risk than age- and sex-matched controls (HR = 2.02 [1.86, 2.18]). Mortality risk is significantly elevated but attenuated substantially in discordant twin pairs, for example, comparing MZ twins with dementia to their co-twin controls (HR = 1.48 [1.08, 2.04]).
DISCUSSION
Findings suggest that genetic factors partially confound the association between dementia and mortality and provide an alternative hypothesis to increased mortality due to dementia itself. Highlights We studied dementia and mortality in twin pairs discordant for dementia. People without dementia outlived people with dementia. Identical twins with dementia and their co-twin controls had similar survival time. Findings suggest genotype may explain the link between dementia and mortality.
Topics: Aged; Humans; Dementia; Genotype; Sweden; Twins, Dizygotic; Twins, Monozygotic; Male; Female
PubMed: 38078564
DOI: 10.1002/alz.13553 -
Proceedings of the Institution of... Aug 2021Gait analysis and gait indices are frequently used to evaluate gait pathologies and outcomes. The aim of this study is to investigate the differences in gait parameters...
Gait analysis and gait indices are frequently used to evaluate gait pathologies and outcomes. The aim of this study is to investigate the differences in gait parameters of dizygotic twin athletes according to each other and athletes group who are similar age but non-twin. Eighty-four athletes without any disease that could cause gait pathology were included the study. Time-distance measurements, kinematic - kinetic variables, and gait deviation index (GDI) of the gait functions of twin athletes (17 boys and 25 girls, height: 153.9 ± 15 cm, weight: 45.9 ± 12 kg, leg length 80.5 ± 11 cm) were compared with each other and with 42 sex and age matched non-twins athletes (height: 155 ± 15 cm, weight: 47 ± 14 kg, leg length 80.6 ± 9.8 cm, mean age 11.8 ± 2.29, range 6-15 years). No statistically significant difference was found about the time, distance parameters and GDIs in comparison of twin athletes with each other and the non-twin group. Additionally, kinetic and kinematic variables were similar in between twins. We measured lower adduction angles and higher abduction angles in non-twin athletes in comparison to the twin athletes ( = 0.01, 0.04). Additionally, the angle of knee flexion at the first contact was higher in non-twins ( = 0.003).Being dizygotic twin seems to have no clinical effect on gait function in athletes.
Topics: Adolescent; Athletes; Biomechanical Phenomena; Child; Female; Gait; Gait Analysis; Humans; Male; Twins, Dizygotic
PubMed: 33928809
DOI: 10.1177/09544119211012495