Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis / L. A. FISH in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1308-1319 Titre : Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis Type de document : Texte imprimé et/ou numérique Auteurs : L. A. FISH, Auteur ; P. NYSTROM, Auteur ; T. GLIGA, Auteur ; A. GUI, Auteur ; Jannath BEGUM ALI, Auteur ; L. MASON, Auteur ; S. GARG, Auteur ; J. GREEN, Auteur ; M. H. JOHNSON, Auteur ; Tony CHARMAN, Auteur ; R. HARRISON, Auteur ; E. MEABURN, Auteur ; T. FALCK-YTTER, Auteur ; E. J. H. JONES, Auteur Article en page(s) : p.1308-1319 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Humans  Infant  Phenotype  Reflex  Autism spectrum disorder  infancy  neurodevelopment  pupillary light reflex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is heritable, the mechanisms through which genes contribute to symptom emergence remain unclear. Investigating candidate intermediate phenotypes such as the pupillary light reflex (PLR) prospectively from early in development could bridge genotype and behavioural phenotype. METHODS: Using eye tracking, we longitudinally measured the PLR at 9, 14 and 24 months in a sample of infants (N = 264) enriched for a family history of ASD; 27 infants received an ASD diagnosis at 3 years. We examined the 9- to 24-month developmental trajectories of PLR constriction latency (onset; ms) and amplitude (%) and explored their relation to categorical 3-year ASD outcome, polygenic liability for ASD and dimensional 3-year social affect (SA) and repetitive/restrictive behaviour (RRB) traits. Polygenic scores for ASD (PGS(ASD) ) were calculated for 190 infants. RESULTS: While infants showed a decrease in latency between 9 and 14 months, higher PGS(ASD) was associated with a smaller decrease in latency in the first year (? = -.16, 95% CI = -0.31, -0.002); infants with later ASD showed a significantly steeper decrease in latency (a putative 'catch-up') between 14 and 24 months relative to those with other outcomes (typical: ? = .54, 95% CI = 0.08, 0.99; other: ? = .53, 95% CI = 0.02, 1.04). Latency development did not associate with later dimensional variation in ASD-related traits. In contrast, change in amplitude was not related to categorical ASD or genetics, but decreasing 9- to 14-month amplitude was associated with higher SA (? = .08, 95% CI = 0.01, 0.14) and RRB (? = .05, 95% CI = 0.004, 0.11) traits. CONCLUSIONS: These findings corroborate PLR development as possible intermediate phenotypes being linked to both genetic liability and phenotypic outcomes. Future work should incorporate alternative measures (e.g. functionally informed structural and genetic measures) to test whether distinct neural mechanisms underpin PLR alterations. En ligne : http://dx.doi.org/10.1111/jcpp.13518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis [Texte imprimé et/ou numérique] / L. A. FISH, Auteur ; P. NYSTROM, Auteur ; T. GLIGA, Auteur ; A. GUI, Auteur ; Jannath BEGUM ALI, Auteur ; L. MASON, Auteur ; S. GARG, Auteur ; J. GREEN, Auteur ; M. H. JOHNSON, Auteur ; Tony CHARMAN, Auteur ; R. HARRISON, Auteur ; E. MEABURN, Auteur ; T. FALCK-YTTER, Auteur ; E. J. H. JONES, Auteur . - p.1308-1319. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1308-1319 Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Humans  Infant  Phenotype  Reflex  Autism spectrum disorder  infancy  neurodevelopment  pupillary light reflex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is heritable, the mechanisms through which genes contribute to symptom emergence remain unclear. Investigating candidate intermediate phenotypes such as the pupillary light reflex (PLR) prospectively from early in development could bridge genotype and behavioural phenotype. METHODS: Using eye tracking, we longitudinally measured the PLR at 9, 14 and 24 months in a sample of infants (N = 264) enriched for a family history of ASD; 27 infants received an ASD diagnosis at 3 years. We examined the 9- to 24-month developmental trajectories of PLR constriction latency (onset; ms) and amplitude (%) and explored their relation to categorical 3-year ASD outcome, polygenic liability for ASD and dimensional 3-year social affect (SA) and repetitive/restrictive behaviour (RRB) traits. Polygenic scores for ASD (PGS(ASD) ) were calculated for 190 infants. RESULTS: While infants showed a decrease in latency between 9 and 14 months, higher PGS(ASD) was associated with a smaller decrease in latency in the first year (? = -.16, 95% CI = -0.31, -0.002); infants with later ASD showed a significantly steeper decrease in latency (a putative 'catch-up') between 14 and 24 months relative to those with other outcomes (typical: ? = .54, 95% CI = 0.08, 0.99; other: ? = .53, 95% CI = 0.02, 1.04). Latency development did not associate with later dimensional variation in ASD-related traits. In contrast, change in amplitude was not related to categorical ASD or genetics, but decreasing 9- to 14-month amplitude was associated with higher SA (? = .08, 95% CI = 0.01, 0.14) and RRB (? = .05, 95% CI = 0.004, 0.11) traits. CONCLUSIONS: These findings corroborate PLR development as possible intermediate phenotypes being linked to both genetic liability and phenotypic outcomes. Future work should incorporate alternative measures (e.g. functionally informed structural and genetic measures) to test whether distinct neural mechanisms underpin PLR alterations. En ligne : http://dx.doi.org/10.1111/jcpp.13518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients / H. BROADBENT in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.18 Titre : Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients Type de document : Texte imprimé et/ou numérique Auteurs : H. BROADBENT, Auteur ; E. K. FARRAN, Auteur ; E. CHIN, Auteur ; K. METCALFE, Auteur ; M. TASSABEHJI, Auteur ; P. TURNPENNY, Auteur ; F. SANSBURY, Auteur ; E. MEABURN, Auteur ; Annette KARMILOFF-SMITH, Auteur Article en page(s) : p.18 Langues : Anglais (eng) Mots-clés : Gtf2i  Gtf2ird1  Limk1  Navigation  Visuospatial cognition  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. METHODS: WE REPORT ON VISUOSPATIAL COGNITION IN TWO INDIVIDUALS WITH CONTRASTING PARTIAL DELETIONS IN THE WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. RESULTS: Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB's atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. CONCLUSIONS: Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed. En ligne : http://dx.doi.org/10.1186/1866-1955-6-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients [Texte imprimé et/ou numérique] / H. BROADBENT, Auteur ; E. K. FARRAN, Auteur ; E. CHIN, Auteur ; K. METCALFE, Auteur ; M. TASSABEHJI, Auteur ; P. TURNPENNY, Auteur ; F. SANSBURY, Auteur ; E. MEABURN, Auteur ; Annette KARMILOFF-SMITH, Auteur . - p.18. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.18 Mots-clés : Gtf2i  Gtf2ird1  Limk1  Navigation  Visuospatial cognition  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. METHODS: WE REPORT ON VISUOSPATIAL COGNITION IN TWO INDIVIDUALS WITH CONTRASTING PARTIAL DELETIONS IN THE WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. RESULTS: Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB's atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. CONCLUSIONS: Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed. En ligne : http://dx.doi.org/10.1186/1866-1955-6-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

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