References
- Reference annotations
- • Of interest
- •• Of considerable interest
- American Psychiatric Association. Diagnostic and statistical manual of mental disorders. Arlington: American Psychiatric Publishing; 2013.
- Willcutt EG, Nigg JT, Pennington BF, et al. Validity of DSM-IV attention deficit/hyperactivity disorder symptom dimensions and subtypes. J Abnorm Psychol. 2012;121:991–1010.
- Polanczyk G, De Lima MS, Horta BL, et al. The worldwide prevalence of ADHD: a systematic review and metaregression analysis. Am J Psychiatry. 2007;164:942–948.
- Willcutt EG. The prevalence of DSM-IV attention-deficit/hyperactivity disorder: a meta-analytic review. Neurotherapeutics. 2012;9:490–499.
- Faraone SV, Biederman J, Mick E. The age-dependent decline of attention deficit hyperactivity disorder: a meta-analysis of follow-up studies. Psychol Med. 2006;36:159–165.
- Simon V, Czobor P, Balint S, et al. Prevalence and correlates of adult attention-deficit hyperactivity disorder: meta-analysis. Br J Psychiatry. 2009;194:204–211.
- Wilens TE, Biederman J, Faraone SV, et al. Presenting ADHD symptoms, subtypes, and comorbid disorders in clinically referred adults with ADHD. J Clin Psychiatry. 2009;70:1557–1562.
- Matte B, Anselmi L, Salum GA, et al. ADHD in DSM-5: a field trial in a large, representative sample of 18- to 19-year-old adults. Psychol Med. 2015;45:361–373.
- Biederman J, Petty CR, Clarke A, et al. Predictors of persistent ADHD: an 11-year follow-up study. J Psychiatr Res. 2011;45:150–155.
- Spencer TJ. ADHD and comorbidity in childhood. J Clin Psychiatry. 2006;67(Suppl. 8):27–31.
- Newcorn JH. Co-morbidity in adults with ADHD. CNS Spectr. 2008;13(8 Suppl. 12):12–15.
- Dalsgaard S, Ostergaard SD, Leckman JF, et al. Mortality in children, adolescents, and adults with attention deficit hyperactivity disorder: a nationwide cohort study. Lancet. 2015;385:2190–2196.
- Shaw M, Hodgkins P, Caci H, et al. A systematic review and analysis of long-term outcomes in attention deficit hyperactivity disorder: effects of treatment and non-treatment. BMC Med. 2012;10:99.
- Genro JP, Kieling C, Rohde LA, et al. Attention-deficit/hyperactivity disorder and the dopaminergic hypotheses. Expert Rev Neurother. 2010;10:587–601.
- Volkow ND, Wang GJ, Fowler JS, et al. Relationship between blockade of dopamine transporters by oral methylphenidate and the increases in extracellular dopamine: therapeutic implications. Synapse. 2002;43:181–187.
- Grillner P, Mercuri NB. Intrinsic membrane properties and synaptic inputs regulating the firing activity of the dopamine neurons. Behav Brain Res. 2002;130:149–169.
- Cortese S. The neurobiology and genetics of attention-deficit/hyperactivity disorder (ADHD): what every clinician should know. Eur J Paediatr Neurol. 2012;16:422–433.
- Shaw P, Malek M, Watson B, et al. Trajectories of cerebral cortical development in childhood and adolescence and adult attention-deficit/hyperactivity disorder. Biol Psychiatry. 2013;74:599–606.
- Banerjee TD, Middleton F, Faraone SV. Environmental risk factors for attention-deficit hyperactivity disorder. Acta Paediatr. 2007;96:1269–1274.
- Froehlich TE, Anixt JS, Loe IM, et al. Update on environmental risk factors for attention-deficit/hyperactivity disorder. Curr Psychiatry Rep. 2011;13:333–344.
- Faraone SV, Perlis RH, Doyle AE, et al. Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiatry. 2005;57:1313–1323.
- Brikell I, Kuja-Halkola R, Larsson H. Heritability of attention-deficit hyperactivity disorder in adults. Am J Med Genet B Neuropsychiatr Genet. 2015;168B:406–413.
- Akutagava-Martins GC, Salatino-Oliveira A, Kieling CC, et al. Genetics of attention-deficit/hyperactivity disorder: current findings and future directions. Expert Rev Neurother. 2013;13:435–445.
- Psychiatric GWAS Consortium Coordinating Committee. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry. 2009;166:540–556.
- Lesch KP, Timmesfeld N, Renner TJ, et al. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. J Neural Transm. 2008;115:1573–1585.
- Neale BM, Lasky-Su J, Anney R, et al. Genome-wide association scan of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1337–1344.
- Mick E, Todorov A, Smalley S, et al. Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2010;49:898–905.
- Neale BM, Medland S, Ripke S, et al. Case-control genome-wide association study of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2010;49:906–920.
- Hinney A, Scherag A, Jarick I, et al. Genome-wide association study in German patients with attention deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2011;156B:888–897.
- Stergiakouli E, Hamshere M, Holmans P, et al. Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD. Am J Psychiatry. 2012;169:186–194.
- Yang L, Neale BM, Liu L, et al. Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants. Am J Med Genet B Neuropsychiatr Genet. 2013;162B:419–430.
- Ebejer JL, Duffy DL, van der Werf J, et al. Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. Twin Res Hum Genet. 2013;16:560–574.
- Sánchez-Mora C, Ramos-Quiroga JA, Bosch R, et al. Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder. Neuropsychopharmacology. 2015;40:915–926.
• Provides, through several approaches, evidence for FBXO33 as an ADHD susceptibility gene and the ubiquitin-proteasome pathway, poorly explored in ADHD research.
- Zayats T, Athanasiu L, Sonderby I, et al. Genome-wide analysis of attention deficit hyperactivity disorder in Norway. PLoS One. 2015;10:e0122501.
- Lasky-Su J, Neale BM, Franke B, et al. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1345–1354.
- Neale BM, Medland SE, Ripke S, et al. Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2010;49:884–897.
- Arias-Vasquez A, Altink ME, Rommelse NN, et al. CDH13 is associated with working memory performance in attention deficit/hyperactivity disorder. Genes Brain Behav. 2011;10:844–851.
- Salatino-Oliveira A, Genro JP, Polanczyk G, et al. Cadherin-13 gene is associated with hyperactive/impulsive symptoms in attention/deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2015;168B:162–169.
- de Bruijn DR, van Dijk AH, Pfundt R, et al. Severe progressive autism associated with two de novo changes: A 2.6-Mb 2q31.1 deletion and a balanced t(14;21)(q21.1;p11.2) translocation with long-range epigenetic silencing of LRFN5 expression. Mol Syndromol. 2010;1:46–57.
- Poelmans G, Pauls DL, Buitelaar JK, et al. Integrated genome-wide association study findings: identification of a neurodevelopmental network for attention deficit hyperactivity disorder. Am J Psychiatry. 2011;168:365–377.
• First study to integrate findings from GWASs in a pathway analysis.
- Aebi M, van Donkelaar MM, Poelmans G, et al. Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2015 [cited 2015 July 16]. DOI:10.1002/ajmg.b.32346.
- Alemany S, Ribases M, Vilor-Tejedor N, et al. New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2015;168B:459–470.
- Lee YH, Song GG. Genome-wide pathway analysis in attention-deficit/hyperactivity disorder. Neurol Sci. 2014;35:1189–1196.
- Bralten J, Franke B, Waldman I, et al. Candidate genetic pathways for attention-deficit/hyperactivity disorder (ADHD) show association to hyperactive/impulsive symptoms in children with ADHD. J Am Acad Child Adolesc Psychiatry. 2013;52:1204–1212.
- Hammerschlag AR, Polderman TJ, de Leeuw C, et al. Functional gene-set analysis does not support a major role for synaptic function in attention deficit/hyperactivity disorder (ADHD). Genes (Basel). 2014;5:604–614.
- Purcell SM, Wray NR, Stone JL, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;460:748–752.
- Hamshere ML, Langley K, Martin J, et al. High loading of polygenic risk for ADHD in children with comorbid aggression. Am J Psychiatry. 2013;170:909–916.
- Groen-Blokhuis MM, Middeldorp CM, Kan KJ, et al. Attention-deficit/hyperactivity disorder polygenic risk scores predict attention problems in a population-based sample of children. J Am Acad Child Adolesc Psychiatry. 2014;53:1123–1129.
- Martin J, Hamshere ML, Stergiakouli E, et al. Genetic risk for attention-deficit/hyperactivity disorder contributes to neurodevelopmental traits in the general population. Biol Psychiatry. 2014;76:664–671.
- Martin J, Hamshere ML, Stergiakouli E, et al. Neurocognitive abilities in the general population and composite genetic risk scores for attention-deficit hyperactivity disorder. J Child Psychol Psychiatry. 2015;56:648–656.
- Stergiakouli E, Martin J, Hamshere ML, et al. Shared genetic influences between attention-deficit/hyperactivity disorder (ADHD) traits in children and clinical ADHD. J Am Acad Child Adolesc Psychiatry. 2015;54:322–327.
•• Demonstrates, through polygenic risk score analysis, that clinical ADHD symptoms and ADHD traits in the general population arise from shared genetic factors.
- Moffitt TE, Houts R, Asherson P, et al. Is adult ADHD a childhood-onset neurodevelopmental disorder? Evidence from a four-decade longitudinal cohort study. Am J Psychiatry. 2015;172:967–977.
- Cross-Disorder Group of the Psychiatric Genomics Consortium. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet. 2013;381:1371–1379.
•• Large study demonstrating shared genetic risk between ADHD, autism, bipolar disorder, major depressive disorder, and schizophrenia.
- Malhotra D, Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012;148:1223–1241.
- Conrad DF, Pinto D, Redon R, et al. Origins and functional impact of copy number variation in the human genome. Nature. 2010;464:704–712.
- Grady DL, Chi HC, Ding YC, et al. High prevalence of rare dopamine receptor D4 alleles in children diagnosed with attention-deficit hyperactivity disorder. Mol Psychiatry. 2003;8:536–545.
- Ding YC, Chi HC, Grady DL, et al. Evidence of positive selection acting at the human dopamine receptor D4 gene locus. Proc Natl Acad Sci U S A. 2002;99:309–314.
- Tovo-Rodrigues L, Rohde LA, Roman T, et al. Is there a role for rare variants in DRD4 gene in the susceptibility for ADHD? Searching for an effect of allelic heterogeneity. Mol Psychiatry. 2012;17:520–526.
- Tovo-Rodrigues L, Rohde LA, Menezes AM, et al. DRD4 rare variants in attention-deficit/hyperactivity disorder (ADHD): further evidence from a birth cohort study. PLoS One. 2013;8:e85164.
- Williams NM, Zaharieva I, Martin A, et al. Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet. 2010;376:1401–1408.
- Williams NM, Franke B, Mick E, et al. Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. Am J Psychiatry. 2012;169:195–204.
- Ramos-Quiroga JA, Sánchez-Mora C, Casas M, et al. Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder. J Psychiatr Res. 2014;49:60–67.
• Reported an increased burden of CNVs in ADHD adults, which was previously detected only in ADHD children.
- Ehli EA, Abdellaoui A, Hu Y, et al. De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on attention problems. Eur J Hum Genet. 2012;20:1037–1043.
- Martin J, O’Donovan MC, Thapar A, et al. The relative contribution of common and rare genetic variants to ADHD. Transl Psychiatry. 2015;5:e506.
•• Demonstrates, through polygenic risk score analysis, that ADHD CNV carriers present lower liability thresholds.
- Elia J, Glessner JT, Wang K, et al. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet. 2012;44:78–84.
- Akutagava-Martins GC, Salatino-Oliveira A, Genro JP, et al. Glutamatergic copy number variants and their role in attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2014;165B:502–509.
- Akutagava-Martins GC, Salatino-Oliveira A, Bruxel EM, et al. Lack of association between the GRM7 gene and attention deficit hyperactivity disorder. Psychiatr Genet. 2014;24:281–282.
- Lionel AC, Crosbie J, Barbosa N, et al. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Sci Transl Med. 2011;3:95ra75.
- Valbonesi S, Magri C, Traversa M, et al. Copy number variants in attention-deficit hyperactive disorder: identification of the 15q13 deletion and its functional role. Psychiatr Genet. 2015;25:59–70.
- Polan MB, Pastore MT, Steingass K, et al. Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster. Eur J Hum Genet. 2014;22:105–109.
- Fisher SE, Francks C, McCracken JT, et al. A genomewide scan for loci involved in attention-deficit/hyperactivity disorder. Am J Hum Genet. 2002;70:1183–1196.
- Smalley SL, Kustanovich V, Minassian SL, et al. Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism. Am J Hum Genet. 2002;71:959–963.
- Tropeano M, Ahn JW, Dobson RJ, et al. Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PLoS One. 2013;8:e61365.
- Lesch KP, Selch S, Renner TJ, et al. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry. 2011;16:491–503.
- Jacob CP, Weber H, Retz W, et al. Acetylcholine-metabolizing butyrylcholinesterase (BCHE) copy number and single nucleotide polymorphisms and their role in attention-deficit/hyperactivity syndrome. J Psychiatr Res. 2013;47:1902–1908.
- Riley KN, Catalano LM, Bernat JA, et al. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. Am J Med Genet Part A. 2015;167A:2664–2673.
- Quintela I, Barros F, Fernandez-Prieto M, et al. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder. Am J Med Genet Part A. 2015;167A:3113–3120.
- Lionel AC, Tammimies K, Vaags AK, et al. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet. 2014;23:2752–2768.
- Vanlerberghe C, Petit F, Malan V, et al. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. Eur J Med Genet. 2105;58:140–147.
- Cross-Disorder Group of the Psychiatric Genomics Consortium. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013;45:984–994.
- Gatt JM, Burton KL, Williams LM, et al. Specific and common genes implicated across major mental disorders: a review of meta-analysis studies. J Psychiatr Res. 2015;60:1–13.
- Weber H, Kittel-Schneider S, Gessner A, et al. Cross-disorder analysis of bipolar risk genes: further evidence of DGKH as a risk gene for bipolar disorder, but also unipolar depression and adult ADHD. Neuropsychopharmacology. 2011;36:2076–2085.
- Sharp SI, McQuillin A, Marks M, et al. Genetic association of the tachykinin receptor 1 TACR1 gene in bipolar disorder, attention deficit hyperactivity disorder, and the alcohol dependence syndrome. Am J Med Genet B Neuropsychiatr Genet. 2014;165B:373–380.
- Havik B, Degenhardt FA, Johansson S, et al. DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. PLoS One. 2012;7:e35424.
- Hamshere ML, Stergiakouli E, Langley K, et al. Shared polygenic contribution between childhood attention-deficit hyperactivity disorder and adult schizophrenia. Br J Psychiatry. 2013;203:107–111.
- Pappa I, Fedko IO, Mileva-Seitz VR, et al. Single nucleotide polymorphism heritability of behavior problems in childhood: genome-wide complex trait analysis. J Am Acad Child Adolesc Psychiatry. 2015;54:737–744.
- Rietveld CA, Conley D, Eriksson N, et al. Replicability and robustness of genome-wide-association studies for behavioral traits. Psychol Sci. 2014;25:1975–1986.
- Gjone H, Stevenson J, Sundet JM. Genetic influence on parent-reported attention-related problems in a Norwegian general population twin sample. J Am Acad Child Adolesc Psychiatry. 1996;35:588–596.
- Levy F, Hay DA, McStephen M, et al. Attention-deficit hyperactivity disorder: a category or a continuum? Genetic analysis of a large-scale twin study. J Am Acad Child Adolesc Psychiatry. 1997;36:737–744.
- Greven CU, van der Meer JM, Hartman CA, et al. Do high and low extremes of adhd and asd trait continua represent maladaptive behavioral and cognitive outcomes? A population-based study. J Atten Disord. 2015 [cited 2015 March 30]. DOI:10.1177/1087054715577136.
- Asherson P, Trzaskowski M. Attention-deficit/hyperactivity disorder is the extreme and impairing tail of a continuum. J Am Acad Child Adolesc Psychiatry. 2015;54:249–250.
- Larsson H, Anckarsater H, Rastam M, et al. Childhood attention-deficit hyperactivity disorder as an extreme of a continuous trait: a quantitative genetic study of 8,500 twin pairs. J Child Psychol Psychiatry. 2012;53:73–80.
•• Large twin study demonstrating that genetic and environmental factors act dimensionally throughout the distribution of ADHD symptoms.
- Biederman J, Kim JW, Doyle AE, et al. Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1511–1518.
- Lotan A, Fenckova M, Bralten J, et al. Neuroinformatic analyses of common and distinct genetic components associated with major neuropsychiatric disorders. Front Neurosci. 2014;8:331.
- Demontis D. ADHD risk loci identified by genome-wide association meta-analysis. Eur Neuropsychopharmacol. 2015;34. DOI:10.1016/j.euroneuro.2015.09.009.
- Kendler KS, Neale MC. Endophenotype: a conceptual analysis. Mol Psychiatry. 2010;15:789–797.
- Yang J, Lee SH, Goddard ME, et al. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet. 2011;88:76–82.
- Bulik-Sullivan BK, Loh PR, Finucane HK, et al. LD score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet. 2015;47:291–295.
- Doyle AE, Faraone SV, Seidman LJ, et al. Are endophenotypes based on measures of executive functions useful for molecular genetic studies of ADHD? J Child Psychol Psychiatry. 2005;46:774–803.
- Cortese S, Ferrin M, Brandeis D, et al. Cognitive training for attention-deficit/hyperactivity disorder: meta-analysis of clinical and neuropsychological outcomes from randomized controlled trials. J Am Acad Child Adolesc Psychiatry. 2015;54:164–174.
- Martinussen R, Hayden J, Hogg-Johnson S, et al. A meta-analysis of working memory impairments in children with attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2005;44:377–384.
- Alderson RM, Kasper LJ, Hudec KL, et al. Attention-deficit/hyperactivity disorder (ADHD) and working memory in adults: a meta-analytic review. Neuropsychology. 2013;27:287–302.
- Cuthbert BN. The RDoC framework: facilitating transition from ICD/DSM to dimensional approaches that integrate neuroscience and psychopathology. World Psychiatry. 2014;13:28–35.
- Hiroi N, Takahashi T, Hishimoto A, et al. Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders. Mol Psychiatry. 2013;18:1153–1165.
•• Describes, through an animal model, how a CNV at chromosome 22q11.2 may develop into different neuropsychiatric phenotypes.
- van mil NH, Steegers-Theunissen RP, Bouwland-Both MI, et al. DNA methylation profiles at birth and child ADHD symptoms. J Psychiatr Res. 2014;49:51–59.
- Wu LH, Peng M, Yu M, et al. Circulating MicroRNA Let-7d in attention-deficit/hyperactivity disorder. Neuromolecular Med. 2015;17:137–146.
- Kandemir H, Erdal ME, Selek S, et al. Evaluation of several micro RNA (miRNA) levels in children and adolescents with attention deficit hyperactivity disorder. Neurosci Lett. 2014;580:158–162.
- Pingault JB, Viding E, Galera C, et al. Genetic and environmental influences on the developmental course of attention-deficit/hyperactivity disorder symptoms from childhood to adolescence. JAMA Psychiatry. 2015;72:651–658.
- Yuen RK, Thiruvahindrapuram B, Merico D, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015;21:185–191.
- Girard SL, Gauthier J, Noreau A, et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet. 2011;43:860–863.