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Commentary: The origins of intellectual disability / Robert PLOMIN in Journal of Child Psychology and Psychiatry, 63-9 (September 2022)
[article]
Titre : Commentary: The origins of intellectual disability Type de document : Texte imprimé et/ou numérique Auteurs : Robert PLOMIN, Auteur Article en page(s) : p.1103-1105 Langues : Anglais (eng) Mots-clés : Humans Intellectual Disability/epidemiology/genetics Risk Twins Index. décimale : PER Périodiques Résumé : Despite the importance and prevalence of intellectual disability (ID), its origins have not been well understood until now. Lichtenstein et al. report in this issue findings from a population-based sample four times larger than all previous family studies of ID put together (Lichtenstein et al., 2022). From more than four million people, 37,787 individuals were identified with ID. Relative risks (RRs) are reported for relatives of ID probands (55,000 first-degree, 55,000second-degree, and 170,000 third-degree) as compared with matched relatives of individuals without ID. These relatives plus 400 pairs of twins in which at least one twin was diagnosed with ID yield an astonishing estimate of 95% heritability with no evidence for shared environmental influence in their model. Another important finding is that maternal half-siblings of ID individuals were at greater risk than paternal half-siblings, a maternal effect that could indicate X-chromosome linkage. Finally, profound and severe ID is etiologically distinct from the normal distribution, due in part to noninherited (de novo) genetic mutations and chromosomal abnormalities. However, 90% of individuals with ID are moderate or mild, and these represent the low end of the normal distribution of genetic influence on cognitive ability, which has important implications for DNA research on ID. En ligne : http://dx.doi.org/10.1111/jcpp.13591 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486
in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1103-1105[article] Commentary: The origins of intellectual disability [Texte imprimé et/ou numérique] / Robert PLOMIN, Auteur . - p.1103-1105.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1103-1105
Mots-clés : Humans Intellectual Disability/epidemiology/genetics Risk Twins Index. décimale : PER Périodiques Résumé : Despite the importance and prevalence of intellectual disability (ID), its origins have not been well understood until now. Lichtenstein et al. report in this issue findings from a population-based sample four times larger than all previous family studies of ID put together (Lichtenstein et al., 2022). From more than four million people, 37,787 individuals were identified with ID. Relative risks (RRs) are reported for relatives of ID probands (55,000 first-degree, 55,000second-degree, and 170,000 third-degree) as compared with matched relatives of individuals without ID. These relatives plus 400 pairs of twins in which at least one twin was diagnosed with ID yield an astonishing estimate of 95% heritability with no evidence for shared environmental influence in their model. Another important finding is that maternal half-siblings of ID individuals were at greater risk than paternal half-siblings, a maternal effect that could indicate X-chromosome linkage. Finally, profound and severe ID is etiologically distinct from the normal distribution, due in part to noninherited (de novo) genetic mutations and chromosomal abnormalities. However, 90% of individuals with ID are moderate or mild, and these represent the low end of the normal distribution of genetic influence on cognitive ability, which has important implications for DNA research on ID. En ligne : http://dx.doi.org/10.1111/jcpp.13591 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden / Paul LICHTENSTEIN in Journal of Child Psychology and Psychiatry, 63-9 (September 2022)
[article]
Titre : Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden Type de document : Texte imprimé et/ou numérique Auteurs : Paul LICHTENSTEIN, Auteur ; Magnus TIDEMAN, Auteur ; Patrick F. SULLIVAN, Auteur ; Eva SERLACHIUS, Auteur ; Henrik LARSSON, Auteur ; Ralf KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur Article en page(s) : p.1092-1102 Langues : Anglais (eng) Mots-clés : Child Cohort Studies Genetic Predisposition to Disease Humans Intellectual Disability/epidemiology/genetics Male Registries Risk Factors Sweden/epidemiology Intellectual disability family factors genetics siblings twins Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID) aggregates in families, but factors affecting individual risk and heritability estimates remain unknown. METHODS: A population-based family cohort study of 4,165,785 individuals born 1973-2013 in Sweden, including 37,787 ID individuals and their relatives. The relative risks (RR) of ID with 95% confidence intervals (95% CI) were obtained from stratified Cox proportional-hazards models. Relatives of ID individuals were compared to relatives of unaffected individuals. Structural equation modeling was used to estimate heritability. RESULTS: Relatives of ID individuals were at increased risk of ID compared to individuals with unaffected relatives. The RR of ID among relatives increased proportionally to the degree of genetic relatedness with ID probands; 256.70(95% CI 161.30-408.53) for monozygotic twins, 16.47(13.32-20.38) for parents, 14.88(12.19-18.16) for children, 7.04(4.67-10.61) for dizygotic twins, 8.38(7.97-8.83) for full siblings, 4.56(4.02-5.16) for maternal, 2.90(2.49-3.37) for paternal half-siblings, 3.03(2.61-3.50) for nephews/nieces, 2.84(2.45-3.29) for uncles/aunts, and 2.04(1.91-2.20) for cousins. Lower RRs were observed for siblings of probands with chromosomal abnormalities (RR 5.53, 4.74-6.46) and more severe ID (mild RR 9.15, 8.55-9.78, moderate RR 8.13, 7.28-9.08, severe RR 6.80, 5.74-8.07, and profound RR 5.88, 4.52-7.65). Male sex of relative and maternal line of relationship with proband was related to higher risk (RR 1.33, 1.25-1.41 for brothers vs. sisters and RR 1.49, 1.34-1.68 for maternal vs. paternal half-siblings). ID was substantially heritable with 0.95(95% CI 0.93-0.98) of the variance in liability attributed to genetic influences. CONCLUSIONS: The risk estimates will benefit researchers, clinicians, families in understanding the risk of ID in the family and the whole population. The higher risk of ID related to male sex and maternal linage will be of value for planning and interpreting etiological studies in ID. En ligne : http://dx.doi.org/10.1111/jcpp.13560 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486
in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1092-1102[article] Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden [Texte imprimé et/ou numérique] / Paul LICHTENSTEIN, Auteur ; Magnus TIDEMAN, Auteur ; Patrick F. SULLIVAN, Auteur ; Eva SERLACHIUS, Auteur ; Henrik LARSSON, Auteur ; Ralf KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur . - p.1092-1102.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1092-1102
Mots-clés : Child Cohort Studies Genetic Predisposition to Disease Humans Intellectual Disability/epidemiology/genetics Male Registries Risk Factors Sweden/epidemiology Intellectual disability family factors genetics siblings twins Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID) aggregates in families, but factors affecting individual risk and heritability estimates remain unknown. METHODS: A population-based family cohort study of 4,165,785 individuals born 1973-2013 in Sweden, including 37,787 ID individuals and their relatives. The relative risks (RR) of ID with 95% confidence intervals (95% CI) were obtained from stratified Cox proportional-hazards models. Relatives of ID individuals were compared to relatives of unaffected individuals. Structural equation modeling was used to estimate heritability. RESULTS: Relatives of ID individuals were at increased risk of ID compared to individuals with unaffected relatives. The RR of ID among relatives increased proportionally to the degree of genetic relatedness with ID probands; 256.70(95% CI 161.30-408.53) for monozygotic twins, 16.47(13.32-20.38) for parents, 14.88(12.19-18.16) for children, 7.04(4.67-10.61) for dizygotic twins, 8.38(7.97-8.83) for full siblings, 4.56(4.02-5.16) for maternal, 2.90(2.49-3.37) for paternal half-siblings, 3.03(2.61-3.50) for nephews/nieces, 2.84(2.45-3.29) for uncles/aunts, and 2.04(1.91-2.20) for cousins. Lower RRs were observed for siblings of probands with chromosomal abnormalities (RR 5.53, 4.74-6.46) and more severe ID (mild RR 9.15, 8.55-9.78, moderate RR 8.13, 7.28-9.08, severe RR 6.80, 5.74-8.07, and profound RR 5.88, 4.52-7.65). Male sex of relative and maternal line of relationship with proband was related to higher risk (RR 1.33, 1.25-1.41 for brothers vs. sisters and RR 1.49, 1.34-1.68 for maternal vs. paternal half-siblings). ID was substantially heritable with 0.95(95% CI 0.93-0.98) of the variance in liability attributed to genetic influences. CONCLUSIONS: The risk estimates will benefit researchers, clinicians, families in understanding the risk of ID in the family and the whole population. The higher risk of ID related to male sex and maternal linage will be of value for planning and interpreting etiological studies in ID. En ligne : http://dx.doi.org/10.1111/jcpp.13560 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression / Emily L. CASANOVA in Molecular Autism, 7 (2016)
[article]
Titre : Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression Type de document : Texte imprimé et/ou numérique Auteurs : Emily L. CASANOVA, Auteur ; J. L. SHARP, Auteur ; H. CHAKRABORTY, Auteur ; N. S. SUMI, Auteur ; Manuel F. CASANOVA, Auteur Article en page(s) : 18p. Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics/psychology Autistic Disorder/epidemiology/genetics/psychology Body Patterning/genetics Cell Nucleus/metabolism Chromatin Assembly and Disassembly/genetics Comorbidity Databases, Genetic Epigenomics Epilepsy/epidemiology/genetics/psychology Gene Expression Regulation Gene Ontology Genetic Association Studies Humans Intellectual Disability/epidemiology/genetics Nerve Tissue Proteins/genetics/physiology Neurogenesis/genetics Nuclear Proteins/genetics/physiology Penetrance Protein Interaction Maps/genetics Risk Syndrome Body patterning Chromatin assembly and disassembly Epilepsy Mental retardation Regulation of gene expression Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID), autism, and epilepsy share frequent yet variable comorbidities with one another. In order to better understand potential genetic divergence underlying this variable risk, we studied genes responsible for monogenic IDs, grouped according to their autism and epilepsy comorbidities. METHODS: Utilizing 465 different forms of ID with known molecular origins, we accessed available genetic databases in conjunction with gene ontology (GO) to determine whether the genetics underlying ID diverge according to its comorbidities with autism and epilepsy and if genes highly penetrant for autism or epilepsy share distinctive features that set them apart from genes that confer comparatively variable or no apparent risk. RESULTS: The genetics of ID with autism are relatively enriched in terms associated with nervous system-specific processes and structural morphogenesis. In contrast, we find that ID with highly comorbid epilepsy (HCE) is modestly associated with lipid metabolic processes while ID without autism or epilepsy comorbidity (ID only) is enriched at the Golgi membrane. Highly comorbid autism (HCA) genes, on the other hand, are strongly enriched within the nucleus, are typically involved in regulation of gene expression, and, along with IDs with more variable autism, share strong ties with a core protein-protein interaction (PPI) network integral to basic patterning of the CNS. CONCLUSIONS: According to GO terminology, autism-related gene products are integral to neural development. While it is difficult to draw firm conclusions regarding IDs unassociated with autism, it is clear that the majority of HCA genes are tightly linked with general dysregulation of gene expression, suggesting that disturbances to the chronology of neural maturation and patterning may be key in conferring susceptibility to autism spectrum conditions. En ligne : http://dx.doi.org/10.1186/s13229-016-0082-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328
in Molecular Autism > 7 (2016) . - 18p.[article] Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression [Texte imprimé et/ou numérique] / Emily L. CASANOVA, Auteur ; J. L. SHARP, Auteur ; H. CHAKRABORTY, Auteur ; N. S. SUMI, Auteur ; Manuel F. CASANOVA, Auteur . - 18p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 18p.
Mots-clés : Autism Spectrum Disorder/epidemiology/genetics/psychology Autistic Disorder/epidemiology/genetics/psychology Body Patterning/genetics Cell Nucleus/metabolism Chromatin Assembly and Disassembly/genetics Comorbidity Databases, Genetic Epigenomics Epilepsy/epidemiology/genetics/psychology Gene Expression Regulation Gene Ontology Genetic Association Studies Humans Intellectual Disability/epidemiology/genetics Nerve Tissue Proteins/genetics/physiology Neurogenesis/genetics Nuclear Proteins/genetics/physiology Penetrance Protein Interaction Maps/genetics Risk Syndrome Body patterning Chromatin assembly and disassembly Epilepsy Mental retardation Regulation of gene expression Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID), autism, and epilepsy share frequent yet variable comorbidities with one another. In order to better understand potential genetic divergence underlying this variable risk, we studied genes responsible for monogenic IDs, grouped according to their autism and epilepsy comorbidities. METHODS: Utilizing 465 different forms of ID with known molecular origins, we accessed available genetic databases in conjunction with gene ontology (GO) to determine whether the genetics underlying ID diverge according to its comorbidities with autism and epilepsy and if genes highly penetrant for autism or epilepsy share distinctive features that set them apart from genes that confer comparatively variable or no apparent risk. RESULTS: The genetics of ID with autism are relatively enriched in terms associated with nervous system-specific processes and structural morphogenesis. In contrast, we find that ID with highly comorbid epilepsy (HCE) is modestly associated with lipid metabolic processes while ID without autism or epilepsy comorbidity (ID only) is enriched at the Golgi membrane. Highly comorbid autism (HCA) genes, on the other hand, are strongly enriched within the nucleus, are typically involved in regulation of gene expression, and, along with IDs with more variable autism, share strong ties with a core protein-protein interaction (PPI) network integral to basic patterning of the CNS. CONCLUSIONS: According to GO terminology, autism-related gene products are integral to neural development. While it is difficult to draw firm conclusions regarding IDs unassociated with autism, it is clear that the majority of HCA genes are tightly linked with general dysregulation of gene expression, suggesting that disturbances to the chronology of neural maturation and patterning may be key in conferring susceptibility to autism spectrum conditions. En ligne : http://dx.doi.org/10.1186/s13229-016-0082-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders / L. GHIRARDI in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
[article]
Titre : Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders Type de document : Texte imprimé et/ou numérique Auteurs : L. GHIRARDI, Auteur ; R. KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur ; J. MARTIN, Auteur ; H. LARSSON, Auteur ; B. M. D'ONOFRIO, Auteur ; P. LICHTENSTEIN, Auteur ; M. J. TAYLOR, Auteur Article en page(s) : p.1274-1284 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics Cohort Studies Comorbidity Humans Intellectual Disability/epidemiology/genetics Neurodevelopmental Disorders/epidemiology/genetics Autism spectrum disorder family based study genetic association neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Familial and genetic associations between autism spectrum disorder (ASD) and other neurodevelopmental and psychiatric disorders have been reported, sometimes with conflicting results. We estimated familial and genetic associations between ASD and nine disorder groups, and explored differences in these associations for ASD in the context of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. METHODS: Individuals born between 1985 and 2009 living in Sweden on their seventh birthday were linked to their biological parents in order to identify different types of relatives. We retrieved information on all the disorders considered from the National Patient Register. Logistic regression was used to estimate the familial association between ASD and other neurodevelopmental and psychiatric disorders in the different groups of relatives. Structural equation modeling was used to estimate phenotypic (r(p) ) and genetic associations (r(g) ), as well as the contribution of genetic influences to r(p) . RESULTS: The study included 2,398,608 individuals. Among relatives of individuals diagnosed with ASD, there was an increased risk of the disorders considered, compared to relatives of individuals who were not diagnosed with ASD. Stronger associations were detected for ASD without any additional diagnosis of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. The strongest genetic correlation was estimated between ASD and other neurodevelopmental disorders (r(g) = 0.73; 95% CI = 0.66-0.79). Moderate genetic correlations were estimated for anxiety disorders (r(g) = 0.47; 95% CI = 0.33-0.61), depression (r(g) = 0.52; 95% CI = 0.37-0.66), and intentional self-harm (r(g) = 0.54; 95% CI = 0.36-0.71). CONCLUSIONS: ASD shows familial and genetic association not only with other neurodevelopmental disorders, but also with other psychiatric disorders, such as anxiety, depression, and intentional self-harm. Family history of ASD comorbid with intellectual disability, epilepsy, congenital malformations, or chromosomal abnormalities is less related to other psychiatric disorders, potentially suggesting a different etiology for this subgroup of patients. En ligne : http://dx.doi.org/10.1111/jcpp.13508 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1274-1284[article] Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders [Texte imprimé et/ou numérique] / L. GHIRARDI, Auteur ; R. KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur ; J. MARTIN, Auteur ; H. LARSSON, Auteur ; B. M. D'ONOFRIO, Auteur ; P. LICHTENSTEIN, Auteur ; M. J. TAYLOR, Auteur . - p.1274-1284.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1274-1284
Mots-clés : Autism Spectrum Disorder/epidemiology/genetics Cohort Studies Comorbidity Humans Intellectual Disability/epidemiology/genetics Neurodevelopmental Disorders/epidemiology/genetics Autism spectrum disorder family based study genetic association neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Familial and genetic associations between autism spectrum disorder (ASD) and other neurodevelopmental and psychiatric disorders have been reported, sometimes with conflicting results. We estimated familial and genetic associations between ASD and nine disorder groups, and explored differences in these associations for ASD in the context of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. METHODS: Individuals born between 1985 and 2009 living in Sweden on their seventh birthday were linked to their biological parents in order to identify different types of relatives. We retrieved information on all the disorders considered from the National Patient Register. Logistic regression was used to estimate the familial association between ASD and other neurodevelopmental and psychiatric disorders in the different groups of relatives. Structural equation modeling was used to estimate phenotypic (r(p) ) and genetic associations (r(g) ), as well as the contribution of genetic influences to r(p) . RESULTS: The study included 2,398,608 individuals. Among relatives of individuals diagnosed with ASD, there was an increased risk of the disorders considered, compared to relatives of individuals who were not diagnosed with ASD. Stronger associations were detected for ASD without any additional diagnosis of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. The strongest genetic correlation was estimated between ASD and other neurodevelopmental disorders (r(g) = 0.73; 95% CI = 0.66-0.79). Moderate genetic correlations were estimated for anxiety disorders (r(g) = 0.47; 95% CI = 0.33-0.61), depression (r(g) = 0.52; 95% CI = 0.37-0.66), and intentional self-harm (r(g) = 0.54; 95% CI = 0.36-0.71). CONCLUSIONS: ASD shows familial and genetic association not only with other neurodevelopmental disorders, but also with other psychiatric disorders, such as anxiety, depression, and intentional self-harm. Family history of ASD comorbid with intellectual disability, epilepsy, congenital malformations, or chromosomal abnormalities is less related to other psychiatric disorders, potentially suggesting a different etiology for this subgroup of patients. En ligne : http://dx.doi.org/10.1111/jcpp.13508 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456