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1. Williams Syndrome: Reduced Orienting to Other's Eyes in a Hypersocial Phenotype

Author

Kleberg, Johan Lundin, Riby, Deborah, Fawcett, Christine, Björlin Avdic, Hanna, Frick, Matilda A., Brocki, Karin C., Högström, Jens, Serlachius, Eva, Nordgren, Ann, and Willfors, Charlotte

Abstract

Williams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes is crucial for social understanding. Orienting to, and from other's eyes was studied in WS (n = 37, mean age = 23, age range 9-53). The WS group was compared to a typically developing comparison participants (n = 167) in stratified age groups from infancy to adulthood. Typically developing children and adults were quicker and more likely to orient to eyes than the mouth. This bias was absent in WS. The WS group had reduced peak saccadic velocities, indicating hypo-arousal. The current study indicates reduced orienting to others' eyes in WS, which may affect social interaction skills.

Published
2023
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9. Presynaptic dysfunction in CASK-related neurodevelopmental disorders

Author

Becker, Martin, Mastropasqua, Francesca, Reising, Jan Philipp, Maier, Simon, Ho, Mai-Lan, Rabkina, Ielyzaveta, Li, Danyang, Neufeld, Janina, Ballenberger, Lea, Myers, Lynnea, Moritz, Viveka, Kele, Malin, Wincent, Josephine, Willfors, Charlotte, Sitnikov, Rouslan, Herlenius, Eric, Anderlid, Britt-Marie, Falk, Anna, Bölte, Sven, and Tammimies, Kristiina

Published
2020
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13. Pupillary response in reward processing in adults with major depressive disorder in remission.

Author

Guath, Mona, Willfors, Charlotte, Björlin Avdic, Hanna, Nordgren, Ann, and Kleberg, Johan Lundin

Subjects
*REWARD (Psychology), *PUPILLARY reflex, *MENTAL depression, *REINFORCEMENT learning
Abstract

Objective: Major depressive disorder (MDD) is associated with impaired reward processing and reward learning. The literature is inconclusive regarding whether these impairments persist after remission. The current study examined reward processing during a probabilistic learning task in individuals in remission from MDD (n = 19) and never depressed healthy controls (n = 31) matched for age and sex. The outcome measures were pupil dilation (an indirect index of noradrenergic activity and arousal) and computational modeling parameters. Method: Participants completed two versions (facial/nonfacial feedback) of probabilistic reward learning task with changing contingencies. Pupil dilation was measured with a corneal reflection eye tracker. The hypotheses and analysis plan were preregistered. Result: Healthy controls had larger pupil dilation following losses than gains (p <.001), whereas no significant difference between outcomes was found in individuals with a history of MDD, resulting in an interaction between group and outcome (β = 0.81, SE = 0.34, t = 2.37, p =.018). The rMDD group also achieved lower mean score at the last trial (t [46.77] = 2.12, p =.040) as well as a smaller proportion of correct choices (t [46.70] = 2.09, p =.041) compared with healthy controls. Conclusion: Impaired reward processing may persist after remission from MDD and could constitute a latent risk factor for relapse. Measuring pupil dilation in a reward learning task is a promising method for identifying reward processing abnormalities linked to MDD. The task is simple and noninvasive, which makes it feasible for clinical research. [ABSTRACT FROM AUTHOR]

Published
2023
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17. Presynaptic dysfunction in CASK-related neurodevelopmental disorders

Author

Becker, Martin, primary, Mastropasqua, Francesca, additional, Reising, Jan Philipp, additional, Maier, Simon, additional, Ho, Mai-Lan, additional, Rabkina, Ielyzaveta, additional, Li, Danyang, additional, Neufeld, Janina, additional, Ballenberger, Lea, additional, Myers, Lynnea, additional, Moritz, Viveka, additional, Kele, Malin, additional, Wincent, Josephine, additional, Willfors, Charlotte, additional, Sitnikov, Rouslan, additional, Herlenius, Eric, additional, Anderlid, Britt-Marie, additional, Falk, Anna, additional, Bölte, Sven, additional, and Tammimies, Kristiina, additional

Published
2019
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23. Fetal and postnatal metal dysregulation in autism

Author

Arora, Manish, primary, Reichenberg, Abraham, additional, Willfors, Charlotte, additional, Austin, Christine, additional, Gennings, Chris, additional, Berggren, Steve, additional, Lichtenstein, Paul, additional, Anckarsäter, Henrik, additional, Tammimies, Kristiina, additional, and Bölte, Sven, additional

Published
2017
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25. The objectivity of the Autism Diagnostic Observation Schedule (ADOS) in naturalistic clinical settings

Author

Zander, Eric, primary, Willfors, Charlotte, additional, Berggren, Steve, additional, Choque-Olsson, Nora, additional, Coco, Christina, additional, Elmund, Anna, additional, Moretti, Åsa Hedfors, additional, Holm, Anette, additional, Jifält, Ida, additional, Kosieradzki, Renata, additional, Linder, Jenny, additional, Nordin, Viviann, additional, Olafsdottir, Karin, additional, Poltrago, Lina, additional, and Bölte, Sven, additional

Published
2015
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27. The Roots of Autism and ADHD Twin Study in Sweden (RATSS)

Author

Bölte, Sven, primary, Willfors, Charlotte, additional, Berggren, Steve, additional, Norberg, Joakim, additional, Poltrago, Lina, additional, Mevel, Katell, additional, Coco, Christina, additional, Fransson, Peter, additional, Borg, Jacqueline, additional, Sitnikov, Rouslan, additional, Toro, Roberto, additional, Tammimies, Kristiina, additional, Anderlid, Britt-Marie, additional, Nordgren, Ann, additional, Falk, Anna, additional, Meyer, Urs, additional, Kere, Juha, additional, Landén, Mikael, additional, Dalman, Christina, additional, Ronald, Angelica, additional, Anckarsäter, Henrik, additional, and Lichtenstein, Paul, additional

Published
2014
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28. Dynamical properties of elemental metabolism distinguish attention deficit hyperactivity disorder from autism spectrum disorder

Author

Austin, Christine, Curtin, Paul, Curtin, Austin, Gennings, Chris, Arora, Manish, Tammimies, Kristiina, Isaksson, Johan, Willfors, Charlotte, and Bölte, Sven

Subjects
3. Good health
Abstract

The results leading to this publication have received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 777394 for the project AIMS-2-TRIALS. This Joint Undertaking receives support from the European Union's Horizon 2020 research and innovation programme and EFPIA and AUTISM SPEAKS, Autistica, SFARI. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript;or in the decision to publish the results. Any views expressed are those of the author(s) and not necessarily those of the funders.

29. Dynamical properties of elemental metabolism distinguish attention deficit hyperactivity disorder from autism spectrum disorder

Author

Austin, Christine, Curtin, Paul, Curtin, Austin, Gennings, Chris, Arora, Manish, Tammimies, Kristiina, Isaksson, Johan, Willfors, Charlotte, and B��lte, Sven

Subjects
3. Good health
Abstract

The results leading to this publication have received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 777394 for the project AIMS-2-TRIALS. This Joint Undertaking receives support from the European Union's Horizon 2020 research and innovation programme and EFPIA and AUTISM SPEAKS, Autistica, SFARI. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results. Any views expressed are those of the author(s) and not necessarily those of the funders.

30. Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder.

Author

Curtin, Paul, Austin, Christine, Curtin, Austen, Gennings, Chris, Arora, Manish, Tammimies, Kristiina, Willfors, Charlotte, Berggren, Steve, Siper, Paige, Rai, Dheeraj, Meyering, Kristin, Kolevzon, Alexander, Mollon, Josephine, David, Anthony S., Lewis, Glyn, Zammit, Stanley, Heilbrun, Lynne, Palmer, Raymond F., Wright, Robert O., and Bölte, Sven

Subjects
*AUTISM spectrum disorders in children, *NEURAL development, *BIOLOGICAL tags, *FETAL development, *ZINC
Abstract

The article presents a nationwide study of zinc-copper metabolic cycles in twins in Sweden. A predictive model to distinguish participants who would be diagnosed with autism spectrum disorder (ASD) in childhood from those who did not develop the disorder was created using novel tooth-matrix biomarkers that provide direct measures of fetal elemental uptake. The study found three quantifiable characteristics of fetal and postnatal zinc-copper rhythmicity that are altered in ASD.

Published
2018
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