| Reference: | American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC
Amara, S.G. & Kuhar, M.J. (1993) Neurotransmitter transporters: recent progress. Annual review of neuroscience, 16, 73-93.
Amendola, E., Zhan, Y., Mattucci, C., Castroflorio, E., Calcagno, E., Fuchs, C., Lonetti, G., Silingardi, D., Vyssotski, A.L. & Farley, D. (2014) Mapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder. PloS one, 9, e91613.
Applegate, B., Lahey, B.B., Hart, E.L., Biederman, J., Hynd, G.W., Barkley, R.A., Ollendick, T., Frick, P.J., GREENHILI, L. & McBurnett, K. (1997) Validity of the age-of-onset criterion for ADHD: a report from the DSM-IV field trials. Journal of the American Academy of Child & Adolescent Psychiatry, 36, 1211-1221.
Avale, M., Falzone, T., Gelman, D., Low, M., Grandy, D. & Rubinstein, M. (2003) The dopamine D4 receptor is essential for hyperactivity and impaired behavioral inhibition in a mouse model of attention deficit/hyperactivity disorder. Molecular psychiatry, 9, 718-726.
Avale, M., Falzone, T., Gelman, D., Low, M., Grandy, D. & Rubinstein, M. (2004) The dopamine D4 receptor is essential for hyperactivity and impaired behavioral inhibition in a mouse model of attention deficit/hyperactivity disorder. Molecular psychiatry, 9, 718-726.
Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, A. & Rio, M. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain, 131, 2647-2661.
Barnes, C.A. (1979) Memory deficits associated with senescence: a neurophysiological and behavioral study in the rat. Journal of comparative and physiological psychology, 93, 74.
Blundell, J., Blaiss, C.A., Etherton, M.R., Espinosa, F., Tabuchi, K., Walz, C., Bolliger, M.F., Südhof, T.C. & Powell, C.M. (2010) Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. The Journal of Neuroscience, 30, 2115-2129.
Botchin, M.B., Kaplan, J.R., Manuck, S.B. & Mann, J.J. (1993) Low versus high prolactin responders to fenfluramine challenge: marker of behavioral differences in adult male cynomolgus macaques. Neuropsychopharmacology, 9, 93-99.
Brozoski, T.J., Brown, R.M., Rosvold, H. & Goldman, P.S. (1979) Cognitive deficit caused by regional depletion of dopamine in prefrontal cortex of rhesus monkey. Science, 205, 929-932.
Burgdorf, J. & Panksepp, J. (2006) The neurobiology of positive emotions. Neuroscience & Biobehavioral Reviews, 30, 173-187.
Butcher, S., Liptrot, J. & Aburthnott, G. (1991) Characterisation of methylphenidate and nomifensine induced dopamine release in rat striatum using in vivo brain microdialysis. Neuroscience letters, 122, 245-248.
Caron, M.G. (1996) Hyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine transporter. Nature, 379, 15.
Cases, O., Seif, I., Grimsby, J., Gaspar, P., Chen, K., Pournin, S., Müller, U., Aguet, M., Babinet, C. & Shih, J.C. (1995) Aggressive behavior and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA. Science (New York, NY), 268, 1763.
Castellanos, F.X., Lee, P.P., Sharp, W., Jeffries, N.O., Greenstein, D.K., Clasen, L.S., Blumenthal, J.D., James, R.S., Ebens, C.L. & Walter, J.M. (2002) Developmental trajectories of brain volume abnormalities in children and adolescents with attention-deficit/hyperactivity disorder. Jama, 288, 1740-1748.
Chahrour, M. & Zoghbi, H.Y. (2007) The story of Rett syndrome: from clinic to neurobiology. Neuron, 56, 422-437.
Chen, Q., Zhu, Y.-C., Yu, J., Miao, S., Zheng, J., Xu, L., Zhou, Y., Li, D., Zhang, C. & Tao, J. (2010) CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. The Journal of Neuroscience, 30, 12777-12786.
Chubykin, A.A., Liu, X., Comoletti, D., Tsigelny, I., Taylor, P. & Südhof, T.C. (2005) Dissection of synapse induction by neuroligins effect of a neuroligin mutation associated with autism. Journal of Biological Chemistry, 280, 22365-22374.
Chudasama, Y. & Robbins, T. (2006) Functions of frontostriatal systems in cognition: comparative neuropsychopharmacological studies in rats, monkeys and humans. Biological psychology, 73, 19-38.
Costantini, F. & D’Amato, F.R. (2006) Ultrasonic vocalizations in mice and rats: social contexts and functions. Acta Zoologica Sinica, 52, 619-633.
Dastur, F.N., McGregor, I.S. & Brown, R.E. (1999) Dopaminergic modulation of rat pup ultrasonic vocalizations. European journal of pharmacology, 382, 53-67.
Davidson, R.J., Putnam, K.M. & Larson, C.L. (2000) Dysfunction in the neural circuitry of emotion regulation--a possible prelude to violence. Science, 289, 591-594.
Dougherty, D.D., Bonab, A.A., Spencer, T.J., Rauch, S.L., Madras, B.K. & Fischman, A.J. (1999) Dopamine transporter density in patients with attention deficit hyperactivity disorder. The Lancet, 354, 2132-2133.
Dunnett, S.B. & Lelos, M. (2010) Behavioral analysis of motor and non-motor symptoms in rodent models of Parkinson’s disease. Progress in brain research, 184, 35-51.
Enard, W. (2011) FOXP2 and the role of cortico-basal ganglia circuits in speech and language evolution. Current opinion in neurobiology, 21, 415-424.
Faraone, S. & Biederman, J. (2002) Pathophysiology of attention-deficit/hyperactivity disorder. Neuropsychopharmacology: The Fifth Generation of Progress (Davis KL, Charney D, Coyle JT, Nemeroff C, eds). Philadelphia: Lippincott Williams & Wilkins, 577-596.
Floresco, S.B. & Magyar, O. (2006) Mesocortical dopamine modulation of executive functions: beyond working memory. Psychopharmacology, 188, 567-585.
Folstein, S.E. & Rosen-Sheidley, B. (2001) Genetics of austim: complex aetiology for a heterogeneous disorder. Nature Reviews Genetics, 2, 943-955.
Fombonne, E. (2004) Epidemiology of autistic disorder and other pervasive developmental disorders. The Journal of clinical psychiatry, 66, 3-8.
Fujita, E., Tanabe, Y., Shiota, A., Ueda, M., Suwa, K., Momoi, M.Y. & Momoi, T. (2008) Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells. Proceedings of the National Academy of Sciences, 105, 3117-3122.
Gainetdinov, R.R., Wetsel, W.C., Jones, S.R., Levin, E.D., Jaber, M. & Caron, M.G. (1999) Role of serotonin in the paradoxical calming effect of psychostimulants on hyperactivity. Science, 283, 397-401.
Gatley, S.J., Pan, D., Chen, R., Chaturvedi, G. & Ding, Y.-S. (1996) Affinities of methylphenidate derivatives for dopamine, norepinephrine and serotonin transporters. Life sciences, 58, PL231-PL239.
Gerasimov, M.R., Franceschi, M., Volkow, N.D., Gifford, A., Gatley, S.J., Marsteller, D., Molina, P.E. & Dewey, S.L. (2000) Comparison between intraperitoneal and oral methylphenidate administration: a microdialysis and locomotor activity study. Journal of Pharmacology and Experimental Therapeutics, 295, 51-57.
Gumulka, W., Samanin, R., Garattini, S. & Valzelli, L. (1969) Effect of stimulation of midbrain raphe on serotonin (5-HT) level and turnover in different areas of rat brain. European journal of pharmacology, 8, 380-384.
Hamilton, P.J., Campbell, N.G., Sharma, S., Erreger, K., Hansen, F.H., Saunders, C., Belovich, A.N., Daly, M., Gibbs, R. & Boerwinkle, E. (2013) De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. Molecular psychiatry, 18, 1315-1323.
Harrison, A.A., Everitt, B.J. & Robbins, T.W. (1997) Central 5-HT depletion enhances impulsive responding without affecting the accuracy of attentional performance: interactions with dopaminergic mechanisms. Psychopharmacology, 133, 329-342.
Higley, J., Hasert, M., Suomi, S. & Linnoila, M. (1998) The serotonin reuptake inhibitor sertraline reduces excessive alcohol consumption in nonhuman primates: effect of stress. Neuropsychopharmacology, 18, 431-443.
Hurd, Y.L. & Ungerstedt, U. (1989) In vivo neurochemical profile of dopamine uptake inhibitors and releasers in rat caudate-putamen. European journal of pharmacology, 166, 251-260.
Hurst, J.A., Baraitser, M., Auger, E., Graham, F. & Norell, S. (1990) An extended family with a dominantly inherited speech disorder. Developmental Medicine & Child Neurology, 32, 352-355.
Ikemoto, S. (2007) Dopamine reward circuitry: two projection systems from the ventral midbrain to the nucleus accumbens–olfactory tubercle complex. Brain research reviews, 56, 27-78.
Jaber, M., Dumartin, B., Sagné, C., Haycock, J.W., Roubert, C., Giros, B., Bloch, B. & Caron, M.G. (1999) Differential regulation of tyrosine hydroxylase in the basal ganglia of mice lacking the dopamine transporter. European Journal of Neuroscience, 11, 3499-3511.
Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I.C., Soderstrom, H., Giros, B., Leboyer, M. & Gillberg, C. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature genetics, 34, 27-29.
Jamain, S., Radyushkin, K., Hammerschmidt, K., Granon, S., Boretius, S., Varoqueaux, F., Ramanantsoa, N., Gallego, J., Ronnenberg, A. & Winter, D. (2008) Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proceedings of the National Academy of Sciences, 105, 1710-1715.
Kalscheuer, V.M., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kübart, S., Menzel, C., Hoeltzenbein, M., Tommerup, N. & Eyre, H. (2003) Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. The American Journal of Human Genetics, 72, 1401-1411.
Kaplan, J.R., Fontenot, M.B., Berard, J., Manuck, S.B. & Mann, J.J. (1995) Delayed dispersal and elevated monoaminergic activity in free‐ranging rhesus monkeys. American Journal of Primatology, 35, 229-234.
Kogan, M.D., Blumberg, S.J., Schieve, L.A., Boyle, C.A., Perrin, J.M., Ghandour, R.M., Singh, G.K., Strickland, B.B., Trevathan, E. & van Dyck, P.C. (2009) Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics, 124, 1395-1403.
Kramer, U., Chi, C.S., Lin, K.L., Specchio, N., Sahin, M., Olson, H., Nabbout, R., Kluger, G., Lin, J.J. & van Baalen, A. (2011) Febrile infection–related epilepsy syndrome (FIRES): Pathogenesis, treatment, and outcome. Epilepsia, 52, 1956-1965.
Krause, K.-H., Dresel, S.H., Krause, J., Kung, H.F. & Tatsch, K. (2000) Increased striatal dopamine transporter in adult patients with attention deficit hyperactivity disorder: effects of methylphenidate as measured by single photon emission computed tomography. Neuroscience letters, 285, 107-110.
Kuczenski, R. & Segal, D.S. (1997) Effects of methylphenidate on extracellular dopamine, serotonin, and norepinephrine: comparison with amphetamine. Journal of neurochemistry, 68, 2032-2037.
Kuczenski, R., Segal, D.S. & Aizenstein, M. (1991) Amphetamine, cocaine, and fencamfamine: relationship between locomotor and stereotypy response profiles and caudate and accumbens dopamine dynamics. The Journal of neuroscience, 11, 2703-2712.
Lai, C.S., Fisher, S.E., Hurst, J.A., Vargha-Khadem, F. & Monaco, A.P. (2001) A forkhead-domain gene is mutated in a severe speech and language disorder. Nature, 413, 519-523.
Lai, C.S., Gerrelli, D., Monaco, A.P., Fisher, S.E. & Copp, A.J. (2003) FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain, 126, 2455-2462.
Langen, M., Kas, M.J., Staal, W.G., van Engeland, H. & Durston, S. (2011) The neurobiology of repetitive behavior: of mice…. Neuroscience & Biobehavioral Reviews, 35, 345-355.
Liao, W.-L., Tsai, H.-C., Wang, H.-F., Chang, J., Lu, K.-M., Wu, H.-L., Lee, Y.-C., Tsai, T.-F., Takahashi, H. & Wagner, M. (2008) Modular patterning of structure and function of the striatum by retinoid receptor signaling. Proceedings of the National Academy of Sciences, 105, 6765-6770.
Linnoila, V.M. & Virkkunen, M. (1992) Aggression, suicidality, and serotonin. Journal of Clinical Psychiatry.
McFadyen, M.P., Brown, R.E. & Carrey, N. (2002) Subchronic methylphenidate administration has no effect on locomotion, emotional behavior, or water maze learning in prepubertal mice. Developmental psychobiology, 41, 123-132.
Montini, E., Andolfi, G., Caruso, A., Buchner, G., Walpole, S.M., Mariani, M., Consalez, G., Trump, D., Ballabio, A. & Franco, B. (1998) Identification and characterization of a novel serine–threonine kinase gene from the Xp22 region. Genomics, 51, 427-433.
Moy, S., Nadler, J., Perez, A., Barbaro, R., Johns, J., Magnuson, T., Piven, J. & Crawley, J. (2004) Sociability and preference for social novelty in five inbred strains: an approach to assess autistic‐like behavior in mice. Genes, Brain and Behavior, 3, 287-302.
Nestler, E.J. & Hyman, S.E. (2010) Animal models of neuropsychiatric disorders. Nature neuroscience, 13, 1161-1169.
Netter, P. & Rammsayer, T. (1991) Reactivity to dopaminergic drugs and aggression related personality traits. Personality and Individual Differences, 12, 1009-1017.
Nieoullon, A. (2002) Dopamine and the regulation of cognition and attention. Progress in neurobiology, 67, 53-83.
Noaín, D., Avale, M.E., Wedemeyer, C., Calvo, D., Peper, M. & Rubinstein, M. (2006) Identification of brain neurons expressing the dopamine D4 receptor gene using BAC transgenic mice. European Journal of Neuroscience, 24, 2429-2438.
Portfors, C.V. (2007) Types and functions of ultrasonic vocalizations in laboratory rats and mice. Journal of the American Association for Laboratory Animal Science, 46, 28-34.
Potter, P., Wolf, L., Boxerman, S., Grayson, D., Sledge, J., Dunagan, C. & Evanoff, B. (2005) Understanding the cognitive work of nursing in the acute care environment. Journal of Nursing Administration, 35, 327-335.
Rao, P.A. & Landa, R.J. (2013) Association between severity of behavioral phenotype and comorbid attention deficit hyperactivity disorder symptoms in children with autism spectrum disorders. Autism, 1362361312470494.
Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G. & Toutain, A. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the< i> CDKL5</i> gene: Identification of novel mutations. Gene, 512, 70-75.
Rhodes, J. & Garland Jr, T. (2003) Differential sensitivity to acute administration of Ritalin, apormorphine, SCH 23390, but not raclopride in mice selectively bred for hyperactive wheel-running behavior. Psychopharmacology, 167, 242-250.
Rhodes, J.S., van Praag, H., Jeffrey, S., Girard, I., Mitchell, G.S., Garland Jr, T. & Gage, F.H. (2003) Exercise increases hippocampal neurogenesis to high levels but does not improve spatial learning in mice bred for increased voluntary wheel running. Behavioral neuroscience, 117, 1006.
Robinson, T.E. & Camp, D.M. (1990) Does amphetamine preferentially increase the extracellular concentration of dopamine in the mesolimbic system of freely moving rats? Neuropsychopharmacology.
Rubenstein, J. & Merzenich, M. (2003) Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes, Brain and Behavior, 2, 255-267.
Rubenstein, J.L. (2010) Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder. Current opinion in neurology, 23, 118-123.
Rubia, K. (2002) The dynamic approach to neurodevelopmental psychiatric disorders: use of fMRI combined with neuropsychology to elucidate the dynamics of psychiatric disorders, exemplified in ADHD and schizophrenia. Behavioural brain research, 130, 47-56.
Rusconi, L., Salvatoni, L., Giudici, L., Bertani, I., Kilstrup-Nielsen, C., Broccoli, V. & Landsberger, N. (2008) CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. Journal of biological chemistry, 283, 30101-30111.
Russell, V., de Villiers, A., Sagvolden, T., Lamm, M. & Taljaard, J. (1995) Altered dopaminergic function in the prefrontal cortex, nucleus accumbens and caudate-putamen of an animal model of attention-deficit hyperactivity disorder—the spontaneously hypertensive rat. Brain Research, 676, 343-351.
Sakai, Y., Shaw, C.A., Dawson, B.C., Dugas, D.V., Al-Mohtaseb, Z., Hill, D.E. & Zoghbi, H.Y. (2011) Protein interactome reveals converging molecular pathways among autism disorders. Science translational medicine, 3, 86ra49-86ra49.
Scattoni, M.L., Crawley, J. & Ricceri, L. (2009) Ultrasonic vocalizations: a tool for behavioural phenotyping of mouse models of neurodevelopmental disorders. Neuroscience & Biobehavioral Reviews, 33, 508-515.
Scattoni, M.L., Ricceri, L. & Crawley, J.N. (2011) Unusual repertoire of vocalizations in adult BTBR T+ tf/J mice during three types of social encounters. Genes, Brain and Behavior, 10, 44-56.
Schweri, M.M., Skolnick, P., Rafferty, M.F., Rice, K.C., Janowsky, A.J. & Paul, S.M. (1985) [3H] Threo‐(±)‐Methylphenidate Binding to 3, 4‐Dihydroxyphenylethylamine Uptake Sites in Corpus Striatum: Correlation with the Stimulant Properties of Ritalinic Acid Esters. Journal of neurochemistry, 45, 1062-1070.
Sekiguchi, M., Katayama, S., Hatano, N., Shigeri, Y., Sueyoshi, N. & Kameshita, I. (2013) Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder. Archives of biochemistry and biophysics, 535, 257-267.
Seo, D., Patrick, C.J. & Kennealy, P.J. (2008) Role of serotonin and dopamine system interactions in the neurobiology of impulsive aggression and its comorbidity with other clinical disorders. Aggression and violent behavior, 13, 383-395.
Sharp, T., Zetterström, T., Ljungberg, T. & Ungerstedt, U. (1987) A direct comparison of amphetamine-induced behaviours and regional brain dopamine release in the rat using intracerebral dialysis. Brain research, 401, 322-330.
Song, J.-Y., Ichtchenko, K., Südhof, T.C. & Brose, N. (1999) Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses. Proceedings of the National Academy of Sciences, 96, 1100-1105.
Staal, W.G., de Krom, M. & de Jonge, M.V. (2012) Brief report: the dopamine-3-receptor gene (DRD3) is associated with specific repetitive behavior in autism spectrum disorder (ASD). Journal of autism and developmental disorders, 42, 885-888.
Szechtman, H., Ornstein, K., Teitelbaum, P. & Golani, I. (1985) The morphogenesis of stereotyped behavior induced by the dopamine receptor agonist apomorphine in the laboratory rat. Neuroscience, 14, 783-798.
Tabuchi, K., Blundell, J., Etherton, M.R., Hammer, R.E., Liu, X., Powell, C.M. & Südhof, T.C. (2007) A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. science, 318, 71-76.
Talkowski, M.E., Rosenfeld, J.A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E. & Lindgren, A.M. (2012) Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell, 149, 525-537.
Turjanski, N., Lees, A. & Brooks, D. (1999) Striatal dopaminergic function in restless legs syndrome 18F-dopa and 11C-raclopride PET studies. Neurology, 52, 932-932.
Valli, E., Trazzi, S., Fuchs, C., Erriquez, D., Bartesaghi, R., Perini, G. & Ciani, E. (2012) CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells. Biochimica et Biophysica Acta (BBA)-Gene Regulatory Mechanisms, 1819, 1173-1185.
Varoqueaux, F., Jamain, S. & Brose, N. (2004) Neuroligin 2 is exclusively localized to inhibitory synapses. European journal of cell biology, 83, 449-456.
Vattikuti, S. & Chow, C.C. (2010) A computational model for cerebral cortical dysfunction in autism spectrum disorders. Biological psychiatry, 67, 672-678.
Wang, I.-T.J., Allen, M., Goffin, D., Zhu, X., Fairless, A.H., Brodkin, E.S., Siegel, S.J., Marsh, E.D., Blendy, J.A. & Zhou, Z. (2012) Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. Proceedings of the National Academy of Sciences, 109, 21516-21521.
Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J. & Tam, P.P. (2004) Mutations of< i> CDKL5</i> Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation. The American Journal of Human Genetics, 75, 1079-1093.
Williamson, S.L., Giudici, L., Kilstrup-Nielsen, C., Gold, W., Pelka, G.J., Tam, P.P., Grimm, A., Prodi, D., Landsberger, N. & Christodoulou, J. (2012) A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain. Human genetics, 131, 187-200.
Wise, R.A. (2004) Dopamine, learning and motivation. Nature reviews neuroscience, 5, 483-494.
Zametkin, A.J. & Rapoport, J. (1987) Noradrenergic hypothesis of attention deficit disorder with hyperactivity: a critical review. Psychopharmacology: The third generation of progress, 837-842.
Zhu, Y.-C., Li, D., Wang, L., Lu, B., Zheng, J., Zhao, S.-L., Zeng, R. & Xiong, Z.-Q. (2013) Palmitoylation-dependent CDKL5–PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development. Proceedings of the National Academy of Sciences, 110, 9118-9123. |
