Candidate diagnostic biomarkers for neurodevelopmental disorders in children and adolescents: a systematic review
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Citações na Scopus
22
Tipo de produção
article
Data de publicação
2023
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY
Autores
CORTESE, Samuele
SOLMI, Marco
MICHELINI, Giorgia
BELLATO, Alessio
BLANNER, Christina
CANOZZI, Andrea
EUDAVE, Luis
HOJLUND, Mikkel
KOHLER-FORSBERG, Ole
Citação
WORLD PSYCHIATRY, v.22, n.1, p.129-149, 2023
Resumo
Neurodevelopmental disorders - including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, communication disorders, intellectual disability, motor disorders, specific learning disorders, and tic disorders - manifest themselves early in development. Valid, reliable and broadly usable biomarkers supporting a timely diagnosis of these disorders would be highly relevant from a clinical and public health standpoint. We conducted the first systematic review of studies on candidate diagnostic biomarkers for these disorders in children and adolescents. We searched Medline and Embase + Embase Classic with terms relating to biomarkers until April 6, 2022, and conducted additional targeted searches for genome-wide association studies (GWAS) and neuroimaging or neurophysiological studies carried out by international consortia. We considered a candidate biomarker as promising if it was reported in at least two independent studies providing evidence of sensitivity and specificity of at least 80%. After screening 10,625 references, we retained 780 studies (374 biochemical, 203 neuroimaging, 133 neurophysiological and 65 neuropsychological studies, and five GWAS), including a total of approximately 120,000 cases and 176,000 controls. While the majority of the studies focused simply on associations, we could not find any biomarker for which there was evidence - from two or more studies from independent research groups, with results going into the same direction - of specificity and sensitivity of at least 80%. Other important metrics to assess the validity of a candidate biomarker, such as positive predictive value and negative predictive value, were infrequently reported. Limitations of the currently available studies include mostly small sample size, heterogeneous approaches and candidate biomarker targets, undue focus on single instead of joint biomarker signatures, and incomplete accounting for potential confounding factors. Future multivariable and multi-level approaches may be best suited to find valid candidate biomarkers, which will then need to be validated in external, independent samples and then, importantly, tested in terms of feasibility and cost-effectiveness, before they can be implemented in daily clinical practice.
Palavras-chave
Biological markers, neurodevelopmental disorders, ADHD, autism spectrum disorder, communication disorders, intellectual disabil-ity, motor disorders, specific learning disorders, tic disorders, genome-wide association studies, neuroimaging, neurophysiology
Referências
- Abi-Dargham A, 2016, NAT MED, V22, P1248, DOI 10.1038/nm.4190
- Almeida D, 2016, CURR PSYCHIAT REP, V18, DOI 10.1007/s11920-016-0736-8
- Anderson MP, 2021, ARCH PATHOL LAB MED, V145, P494, DOI 10.5858/arpa.2020-0164-RA
- Astle DE, 2022, J CHILD PSYCHOL PSYC, V63, P397, DOI 10.1111/jcpp.13481
- Bellato A, 2021, NEUROSCI BIOBEHAV R, V131, P964, DOI 10.1016/j.neubiorev.2021.10.018
- Boksa P, 2013, J PSYCHIATR NEUROSCI, V38, P75, DOI 10.1503/jpn.130018
- Brannan C, 2019, AM J MED GENET B, V180, P159, DOI 10.1002/ajmg.b.32629
- Charman T, 2017, MOL AUTISM, V8, DOI 10.1186/s13229-017-0145-9
- Correll CU, 2021, WORLD PSYCHIATRY, V20, P244, DOI 10.1002/wps.20881
- Demontis D, 2019, NAT GENET, V51, P63, DOI 10.1038/s41588-018-0269-7
- Dwyer P, 2020, MOL AUTISM, V11, DOI 10.1186/s13229-020-00352-3
- El-Ansary A, 2020, PLOS ONE, V15, DOI 10.1371/journal.pone.0227626
- Fairchild G, 2019, NAT REV DIS PRIMERS, V5, DOI 10.1038/s41572-019-0095-y
- Fetit R, 2021, NEUROSCI BIOBEHAV R, V129, P35, DOI 10.1016/j.neubiorev.2021.07.014
- First M., CONSENSUS REPORT APA
- Fusar-Poli P, 2019, WORLD PSYCHIATRY, V18, P192, DOI 10.1002/wps.20631
- Gidziela A., 2022, MEDRXIV, DOI [10.1101/2022.02.17.22271089, DOI 10.1101/2022.02.17.22271089]
- Godoy PBG, 2022, BRAZ J PSYCHIAT, V44, P532, DOI 10.47626/1516-4446-2021-2222
- Grove Jakob, 2019, Nat Genet, V51, P431, DOI 10.1038/s41588-019-0344-8
- Groves AR, 2011, NEUROIMAGE, V54, P2198, DOI 10.1016/j.neuroimage.2010.09.073
- Hobson H, 2021, MOL PSYCHIATR, V26, P7100, DOI 10.1038/s41380-021-01226-7
- Hollis C, 2018, J CHILD PSYCHOL PSYC, V59, P1298, DOI 10.1111/jcpp.12921
- Holz NE, 2022, PSYCHOL MED, DOI 10.1017/S003329172200068X
- Hu XZ, 2022, CANCERS, V14, DOI 10.3390/cancers14133181
- Ioannidis JPA, 2007, CLIN TRIALS, V4, P245, DOI 10.1177/1740774507079441
- Ip HF, 2021, TRANSL PSYCHIAT, V11, DOI 10.1038/s41398-021-01480-x
- Juarez-Martinez Erika L, 2023, Biol Psychiatry Cogn Neurosci Neuroimaging, V8, P251, DOI 10.1016/j.bpsc.2021.08.009
- Kamp-Becker I, 2018, EUR CHILD ADOLES PSY, V27, P1193, DOI 10.1007/s00787-018-1143-y
- Kapczinski F, 2008, NEUROSCI BIOBEHAV R, V32, P675, DOI 10.1016/j.neubiorev.2007.10.005
- Kapur S, 2012, MOL PSYCHIATR, V17, P1174, DOI 10.1038/mp.2012.105
- Karalunas SL, 2020, BIOL PSYCHIAT, V88, P103, DOI 10.1016/j.biopsych.2019.11.002
- Karcher NR, 2021, BIOL PSYCHIAT-COGN N, V6, P508, DOI 10.1016/j.bpsc.2020.09.008
- Kato H, 2022, J HUM GENET, DOI 10.1038/s10038-022-01059-4
- Kim JH, 2020, LANCET PSYCHIAT, V7, P955, DOI 10.1016/S2215-0366(20)30312-6
- Kim JY, 2019, LANCET PSYCHIAT, V6, P590, DOI 10.1016/S2215-0366(19)30181-6
- Kirkpatrick RH, 2021, J PSYCHIATR RES, V143, P572, DOI 10.1016/j.jpsychires.2020.11.023
- Kotov R, 2020, WORLD PSYCHIATRY, V19, P151, DOI 10.1002/wps.20730
- Krueger RF, 2021, WORLD PSYCHIATRY, V20, P171, DOI 10.1002/wps.20844
- Kuntsi J, 2006, PSYCHOL MED, V36, P1613, DOI 10.1017/S0033291706008580
- Kushki A, 2021, CEREB CORTEX, V31, P5067, DOI 10.1093/cercor/bhab142
- Loo SK, 2018, J CHILD PSYCHOL PSYC, V59, P223, DOI 10.1111/jcpp.12814
- Loth E, 2021, PLOS COMPUT BIOL, V17, DOI 10.1371/journal.pcbi.1009477
- Lukito S, 2020, PSYCHOL MED, V50, P894, DOI 10.1017/S0033291720000574
- Lutz W, 2021, WORLD PSYCHIATRY, V20, P380, DOI 10.1002/wps.20888
- MacQueen GM, 2019, J PSYCHIATR NEUROSCI, V44, P222, DOI 10.1503/jpn.180036
- Maj M, 2021, WORLD PSYCHIATRY, V20, P4, DOI 10.1002/wps.20809
- Marquand AF, 2019, MOL PSYCHIATR, V24, P1415, DOI 10.1038/s41380-019-0441-1
- McGorry P, 2014, WORLD PSYCHIATRY, V13, P211, DOI 10.1002/wps.20144
- McIntyre RS, 2022, WORLD PSYCHIATRY, V21, P364, DOI 10.1002/wps.20997
- Michelini G, 2019, TRANSL PSYCHIAT, V9, DOI 10.1038/s41398-019-0593-4
- Michelini G, 2021, J ATTEN DISORD, V25, P91, DOI 10.1177/1087054718771191
- Nudel R, 2014, GENES BRAIN BEHAV, V13, P418, DOI 10.1111/gbb.12127
- Onitsuka T, 2022, PSYCHIAT CLIN NEUROS, V76, P1, DOI 10.1111/pcn.13311
- Pagan C, 2014, TRANSL PSYCHIAT, V4, DOI 10.1038/tp.2014.120
- Page MJ, 2021, PLOS MED, V18, DOI 10.1371/journal.pmed.1003583
- Page MJ, 2021, BMJ-BRIT MED J, V372, DOI [10.1136/bmj.n71, 10.1016/j.ijsu.2021.105906]
- Paulus MP, 2019, JAMA PSYCHIAT, V76, P353, DOI 10.1001/jamapsychiatry.2018.4540
- Pulini AA, 2019, BIOL PSYCHIAT-COGN N, V4, P108, DOI 10.1016/j.bpsc.2018.06.003
- Rademaker MC, 2018, HAND CLINIC, V150, P3, DOI 10.1016/B978-0-444-63639-3.00001-3
- Rovira P, 2020, NEUROPSYCHOPHARMACOL, V45, P1617, DOI 10.1038/s41386-020-0664-5
- Ruisch IH, 2019, EUR ARCH PSY CLIN N, V269, P741, DOI 10.1007/s00406-018-0964-5
- Garcia-Gutierrez MS, 2020, FRONT PSYCHIATRY, V11, DOI 10.3389/fpsyt.2020.00432
- Sanders SJ, 2015, NEURON, V87, P1215, DOI 10.1016/j.neuron.2015.09.016
- Sanislow CA, 2020, WORLD PSYCHIATRY, V19, P311, DOI 10.1002/wps.20800
- Satterstrom FK, 2020, CELL, V180, P568, DOI 10.1016/j.cell.2019.12.036
- Scassellati C, 2012, J AM ACAD CHILD PSY, V51, P1003, DOI 10.1016/j.jaac.2012.08.015
- Shic F, 2022, MOL AUTISM, V13, DOI 10.1186/s13229-021-00482-2
- Silver Spring (MD) Food and Drug Administration (US) Bethesda (MD) National Institutes of Health (US), 2016, BEST BIOMARKERS ENDP
- Solmi M, 2022, MOL PSYCHIATR, V27, P4172, DOI 10.1038/s41380-022-01630-7
- Solmi M, 2022, MOL PSYCHIATR, V27, P281, DOI 10.1038/s41380-021-01161-7
- Solmi M, 2020, WORLD PSYCHIATRY, V19, P214, DOI 10.1002/wps.20765
- Stein DJ, 2021, WORLD PSYCHIATRY, V20, P336, DOI 10.1002/wps.20919
- Taylor MJ, 2019, JAMA PSYCHIAT, V76, P280, DOI 10.1001/jamapsychiatry.2018.3652
- Thapar A, 2017, LANCET PSYCHIAT, V4, P339, DOI 10.1016/S2215-0366(16)30376-5
- Trubetskoy V, 2022, NATURE, V604, P502, DOI 10.1038/s41586-022-04434-5
- Tung YH, 2021, AM J PSYCHIAT, V178, P730, DOI 10.1176/appi.ajp.2020.20070999
- Uher R, 2017, WORLD PSYCHIATRY, V16, P121, DOI 10.1002/wps.20436
- Veyssiere H, 2022, CLIN PROTEOM, V19, DOI 10.1186/s12014-022-09362-0
- Voetterl Helena, 2023, Biol Psychiatry Cogn Neurosci Neuroimaging, V8, P52, DOI 10.1016/j.bpsc.2022.02.007
- Waszczuk MA, 2021, WORLD PSYCHIATRY, V20, P65, DOI 10.1002/wps.20811
- Watson D, 2022, WORLD PSYCHIATRY, V21, P26, DOI 10.1002/wps.20943
- Wirsching J, 2018, BMC MED RES METHODOL, V18, DOI 10.1186/s12874-018-0583-x
- World Health Organization, INT CLASSIFICATION D
- Wray NR, 2018, NAT GENET, V50, P668, DOI 10.1038/s41588-018-0090-3
- Yu DM, 2019, AM J PSYCHIAT, V176, P217, DOI 10.1176/appi.ajp.2018.18070857