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 / Laurel 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 Auteurs : Laurel A. FISH, Auteur ; P. NYSTROM, Auteur ; Teodora GLIGA, Auteur ; Anna GUI, Auteur ; Jannath BEGUM-ALI, Auteur ; Luke MASON, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Mark Henry JOHNSON, Auteur ; Tony CHARMAN, Auteur ; Rebecca HARRISON, Auteur ; Emma MEABURN, Auteur ; Terje FALCK-YTTER, Auteur ; Emily Jane Harrison 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 (β = -.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: β = .54, 95% CI = 0.08, 0.99; other: β = .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 (β = .08, 95% CI = 0.01, 0.14) and RRB (β = .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] / Laurel A. FISH, Auteur ; P. NYSTROM, Auteur ; Teodora GLIGA, Auteur ; Anna GUI, Auteur ; Jannath BEGUM-ALI, Auteur ; Luke MASON, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Mark Henry JOHNSON, Auteur ; Tony CHARMAN, Auteur ; Rebecca HARRISON, Auteur ; Emma MEABURN, Auteur ; Terje FALCK-YTTER, Auteur ; Emily Jane Harrison 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 (β = -.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: β = .54, 95% CI = 0.08, 0.99; other: β = .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 (β = .08, 95% CI = 0.01, 0.14) and RRB (β = .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

Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD / Anna GUI in Development and Psychopathology, 32-4 (October 2020)  

Public ISBD [article]  inDevelopment and Psychopathology > 32-4 (October 2020) . - p.1303-1322 Titre : Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD Type de document : texte imprimé Auteurs : Anna GUI, Auteur ; Luke MASON, Auteur ; Teodora GLIGA, Auteur ; Alexandra HENDRY, Auteur ; Jannath BEGUM-ALI, Auteur ; Greg PASCO, Auteur ; Elizabeth SHEPHARD, Auteur ; Charles CURTIS, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Emma MEABURN, Auteur ; Emily J.H. JONES, Auteur Article en page(s) : p.1303-1322 Langues : Anglais (eng) Mots-clés : attention  endophenotypes  eye-tracking  infant siblings  polygenic score Index. décimale : PER Périodiques Résumé : Identifying developmental endophenotypes on the pathway between genetics and behavior is critical to uncovering the mechanisms underlying neurodevelopmental conditions. In this proof-of-principle study, we explored whether early disruptions in visual attention are a unique or shared candidate endophenotype of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We calculated the duration of the longest look (i.e., peak look) to faces in an array-based eye-tracking task for 335 14-month-old infants with and without first-degree relatives with ASD and/or ADHD. We leveraged parent-report and genotype data available for a proportion of these infants to evaluate the relation of looking behavior to familial (n = 285) and genetic liability (using polygenic scores, n = 185) as well as ASD and ADHD-relevant temperament traits at 2 years of age (shyness and inhibitory control, respectively, n = 272) and ASD and ADHD clinical traits at 6 years of age (n = 94).Results showed that longer peak looks at the face were associated with elevated polygenic scores for ADHD (β = 0.078, p = .023), but not ASD (β = 0.002, p = .944), and with elevated ADHD traits in mid-childhood (F(1,88) = 6.401, p = .013, $\eta _p^2$=0.068; ASD: F (1,88) = 3.218, p = .076), but not in toddlerhood (ps > 0.2). This pattern of results did not emerge when considering mean peak look duration across face and nonface stimuli. Thus, alterations in attention to faces during spontaneous visual exploration may be more consistent with a developmental endophenotype of ADHD than ASD. Our work shows that dissecting paths to neurodevelopmental conditions requires longitudinal data incorporating polygenic contribution, early neurocognitive function, and clinical phenotypic variation. En ligne : http://dx.doi.org/10.1017/s0954579420000930 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433 [article] Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD [texte imprimé] / Anna GUI, Auteur ; Luke MASON, Auteur ; Teodora GLIGA, Auteur ; Alexandra HENDRY, Auteur ; Jannath BEGUM-ALI, Auteur ; Greg PASCO, Auteur ; Elizabeth SHEPHARD, Auteur ; Charles CURTIS, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Emma MEABURN, Auteur ; Emily J.H. JONES, Auteur . - p.1303-1322. Langues : Anglais (eng) in Development and Psychopathology > 32-4 (October 2020) . - p.1303-1322 Mots-clés : attention  endophenotypes  eye-tracking  infant siblings  polygenic score Index. décimale : PER Périodiques Résumé : Identifying developmental endophenotypes on the pathway between genetics and behavior is critical to uncovering the mechanisms underlying neurodevelopmental conditions. In this proof-of-principle study, we explored whether early disruptions in visual attention are a unique or shared candidate endophenotype of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We calculated the duration of the longest look (i.e., peak look) to faces in an array-based eye-tracking task for 335 14-month-old infants with and without first-degree relatives with ASD and/or ADHD. We leveraged parent-report and genotype data available for a proportion of these infants to evaluate the relation of looking behavior to familial (n = 285) and genetic liability (using polygenic scores, n = 185) as well as ASD and ADHD-relevant temperament traits at 2 years of age (shyness and inhibitory control, respectively, n = 272) and ASD and ADHD clinical traits at 6 years of age (n = 94).Results showed that longer peak looks at the face were associated with elevated polygenic scores for ADHD (β = 0.078, p = .023), but not ASD (β = 0.002, p = .944), and with elevated ADHD traits in mid-childhood (F(1,88) = 6.401, p = .013, $\eta _p^2$=0.068; ASD: F (1,88) = 3.218, p = .076), but not in toddlerhood (ps > 0.2). This pattern of results did not emerge when considering mean peak look duration across face and nonface stimuli. Thus, alterations in attention to faces during spontaneous visual exploration may be more consistent with a developmental endophenotype of ADHD than ASD. Our work shows that dissecting paths to neurodevelopmental conditions requires longitudinal data incorporating polygenic contribution, early neurocognitive function, and clinical phenotypic variation. En ligne : http://dx.doi.org/10.1017/s0954579420000930 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433

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