The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders.

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Fältnamn	Indikatorer	Metadata
000		06813naa a2201213 4500
001		oai:DiVA.org:uu-325671
003		SwePub
008		170627s2017 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:136090654
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3256712 URI
024	7	a https://doi.org/10.1186/s13229-017-0146-82 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1360906542 URI
040		a (SwePub)uud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Loth, Eva4 aut
245	1 0	a The EU-AIMS Longitudinal European Autism Project (LEAP) :b design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders.
264		c 2017-06-23
264	1	b Springer Science and Business Media LLC,c 2017
338		a electronic2 rdacarrier
520		a BACKGROUND: The tremendous clinical and aetiological diversity among individuals with autism spectrum disorder (ASD) has been a major obstacle to the development of new treatments, as many may only be effective in particular subgroups. Precision medicine approaches aim to overcome this challenge by combining pathophysiologically based treatments with stratification biomarkers that predict which treatment may be most beneficial for particular individuals. However, so far, we have no single validated stratification biomarker for ASD. This may be due to the fact that most research studies primarily have focused on the identification of mean case-control differences, rather than within-group variability, and included small samples that were underpowered for stratification approaches. The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study worldwide that aims to identify and validate stratification biomarkers for ASD.METHODS: LEAP includes 437 children and adults with ASD and 300 individuals with typical development or mild intellectual disability. Using an accelerated longitudinal design, each participant is comprehensively characterised in terms of clinical symptoms, comorbidities, functional outcomes, neurocognitive profile, brain structure and function, biochemical markers and genomics. In addition, 51 twin-pairs (of which 36 had one sibling with ASD) are included to identify genetic and environmental factors in phenotypic variability.RESULTS: Here, we describe the demographic characteristics of the cohort, planned analytic stratification approaches, criteria and steps to validate candidate stratification markers, pre-registration procedures to increase transparency, standardisation and data robustness across all analyses, and share some 'lessons learnt'. A clinical characterisation of the cohort is given in the companion paper (Charman et al., accepted).CONCLUSION: We expect that LEAP will enable us to confirm, reject and refine current hypotheses of neurocognitive/neurobiological abnormalities, identify biologically and clinically meaningful ASD subgroups, and help us map phenotypic heterogeneity to different aetiologies.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng
653		a Biomarkers
653		a Cognition
653		a EEG
653		a Eye-tracking
653		a Genetics
653		a MRI
653		a Neuroimaging
700	1	a Charman, Tony4 aut
700	1	a Mason, Luke4 aut
700	1	a Tillmann, Julian4 aut
700	1	a Jones, Emily J H4 aut
700	1	a Wooldridge, Caroline4 aut
700	1	a Ahmad, Jumana4 aut
700	1	a Auyeung, Bonnie4 aut
700	1	a Brogna, Claudia4 aut
700	1	a Ambrosino, Sara4 aut
700	1	a Banaschewski, Tobias4 aut
700	1	a Baron-Cohen, Simon4 aut
700	1	a Baumeister, Sarah4 aut
700	1	a Beckmann, Christian4 aut
700	1	a Brammer, Michael4 aut
700	1	a Brandeis, Daniel4 aut
700	1	a Bölte, Svenu Karolinska Institutet4 aut
700	1	a Bourgeron, Thomas4 aut
700	1	a Bours, Carsten4 aut
700	1	a de Bruijn, Yvette4 aut
700	1	a Chakrabarti, Bhismadev4 aut
700	1	a Crawley, Daisy4 aut
700	1	a Cornelissen, Ineke4 aut
700	1	a Acqua, Flavio Dell'4 aut
700	1	a Dumas, Guillaume4 aut
700	1	a Durston, Sarah4 aut
700	1	a Ecker, Christine4 aut
700	1	a Faulkner, Jessica4 aut
700	1	a Frouin, Vincent4 aut
700	1	a Garces, Pilar4 aut
700	1	a Goyard, David4 aut
700	1	a Hayward, Hannah4 aut
700	1	a Ham, Lindsay M4 aut
700	1	a Hipp, Joerg4 aut
700	1	a Holt, Rosemary J4 aut
700	1	a Johnson, Mark H4 aut
700	1	a Isaksson, Johanu Karolinska Institutet,Uppsala universitet,Barn- och ungdomspsykiatri,Karolinska Inst KIND, Ctr Neurodev Disorders, Stockholm, Sweden4 aut0 (Swepub:uu)johis856
700	1	a Kundu, Prantik4 aut
700	1	a Lai, Meng-Chuan4 aut
700	1	a D'ardhuy, Xavier Liogier4 aut
700	1	a Lombardo, Michael V4 aut
700	1	a Lythgoe, David J4 aut
700	1	a Mandl, René4 aut
700	1	a Meyer-Lindenberg, Andreas4 aut
700	1	a Moessnang, Carolin4 aut
700	1	a Mueller, Nico4 aut
700	1	a O'Dwyer, Laurence4 aut
700	1	a Oldehinkel, Marianne4 aut
700	1	a Oranje, Bob4 aut
700	1	a Pandina, Gahan4 aut
700	1	a Persico, Antonio M4 aut
700	1	a Ruigrok, Amber N V4 aut
700	1	a Ruggeri, Barbara4 aut
700	1	a Sabet, Jessica4 aut
700	1	a Sacco, Roberto4 aut
700	1	a Cáceres, Antonia San José4 aut
700	1	a Simonoff, Emily4 aut
700	1	a Toro, Roberto4 aut
700	1	a Tost, Heike4 aut
700	1	a Waldman, Jack4 aut
700	1	a Williams, Steve C R4 aut
700	1	a Zwiers, Marcel P4 aut
700	1	a Spooren, Will4 aut
700	1	a Murphy, Declan G M4 aut
700	1	a Buitelaar, Jan K4 aut
710	2	a Karolinska Institutetb Barn- och ungdomspsykiatri4 org
773	0	t Molecular Autismd : Springer Science and Business Media LLCg 8q 8x 2040-2392
856	4	u https://doi.org/10.1186/s13229-017-0146-8y Fulltext
856	4	u https://uu.diva-portal.org/smash/get/diva2:1115617/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4	u https://molecularautism.biomedcentral.com/track/pdf/10.1186/s13229-017-0146-8
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-325671
856	4 8	u https://doi.org/10.1186/s13229-017-0146-8
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:136090654

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Av författaren/redakt...: Loth, Eva; Charman, Tony; Mason, Luke; Tillmann, Julian; Jones, Emily J H; Wooldridge, Caro ...; visa fler...; Ahmad, Jumana; Auyeung, Bonnie; Brogna, Claudia; Ambrosino, Sara; Banaschewski, To ...; Baron-Cohen, Sim ...; Baumeister, Sara ...; Beckmann, Christ ...; Brammer, Michael; Brandeis, Daniel; Bölte, Sven; Bourgeron, Thoma ...; Bours, Carsten; de Bruijn, Yvett ...; Chakrabarti, Bhi ...; Crawley, Daisy; Cornelissen, Ine ...; Acqua, Flavio De ...; Dumas, Guillaume; Durston, Sarah; Ecker, Christine; Faulkner, Jessic ...; Frouin, Vincent; Garces, Pilar; Goyard, David; Hayward, Hannah; Ham, Lindsay M; Hipp, Joerg; Holt, Rosemary J; Johnson, Mark H; Isaksson, Johan; Kundu, Prantik; Lai, Meng-Chuan; D'ardhuy, Xavier ...; Lombardo, Michae ...; Lythgoe, David J; Mandl, René; Meyer-Lindenberg ...; Moessnang, Carol ...; Mueller, Nico; O'Dwyer, Laurenc ...; Oldehinkel, Mari ...; Oranje, Bob; Pandina, Gahan; Persico, Antonio ...; Ruigrok, Amber N ...; Ruggeri, Barbara; Sabet, Jessica; Sacco, Roberto; Cáceres, Antonia ...; Simonoff, Emily; Toro, Roberto; Tost, Heike; Waldman, Jack; Williams, Steve ...; Zwiers, Marcel P; Spooren, Will; Murphy, Declan G ...; Buitelaar, Jan K; visa färre...

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Psykiatri

Artiklar i publikationen: Molecular Autism

Av lärosätet: Uppsala universitet; Karolinska Institutet

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