Annual research review: Rare genotypes and childhood psychopathology - Uncovering diverse developmental mechanisms of ADHD risk

Journal of Child Psychology and Psychiatry and Allied Disciplines

Volumn 56, Issue 3, 2015, Pages 251-273

  Scerif, Gaia ^a   Baker, Kate ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

ADHD risk; causal pathways; developmental mechanisms; Rare genotypes

Indexed keywords

ATTENTION DEFICIT DISORDER; CHILD; CHILD DEVELOPMENT; DEVELOPMENTAL DISORDER; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; MALE; MENTAL DISEASE; PRESCHOOL CHILD; PSYCHOLOGY; RISK FACTOR;

ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; CHILD; CHILD DEVELOPMENT; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; PSYCHOPATHOLOGY; RISK FACTORS;

EID: 84923567663     PISSN: 00219630     EISSN: 14697610     Source Type: Journal    
DOI: 10.1111/jcpp.12374     Document Type: Article

References (174)

1. Ahuja, A., Martin, J., Langley, K., &, Thapar, A., (2013). Intellectual disability in children with attention deficit hyperactivity disorder. Journal of Pediatrics, 163, 890.
2. Allen, T.M., Hersh, J., Schoch, K., Curtiss, K., Hooper, S.R., &, Shashi, V., (2014). Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome. Journal of Intellectual Disability Research, 58, 31-47.
3. Altafaj, X., Dierssen, M., Baamonde, C., Marti, E., Visa, J., Guimera, J.,... &, Estivill, X., (2001). Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Human Molecular Genetics, 10, 1915-1923.
4. American Psychiatric Association (2013). Diagnostic and statistical manual of mental disorders (5th edn). Washington, DC: American Psychiatric Association.
5. Amso, D., &, Scerif, G., (in press). The attentive brain: Unique insights from developmental science. (Submitted).
6. Antshel, K.M., Hendricks, K., Shprintzen, R., Fremont, W., Higgins, A.M., Faraone, S.V., &, Kates, W.R., (2013). The longitudinal course of attention deficit/hyperactivity disorder in velo-cardio-facial syndrome. Journal of Pediatrics, 163, 187-U594.
7. Antshel, K.M., Phillips, M.H., Gordon, M., Barkley, R., &, Faraone, S.V., (2006). Is ADHD a valid disorder in children with intellectual delays? Clinical Psychology Review, 26, 555-572.
8. Arkadir, D., Bergman, H., &, Fahn, S., (2014). Redundant dopaminergic activity may enable compensatory axonal sprouting in Parkinson disease. Neurology, 82, 1093-1098.
9. Ba, W., van der Raadt, J., &, Kasri, N.N., (2013). Rho GTPase signaling at the synapse: Implications for intellectual disability. Experimental Cell Research, 319, 2368-2374.
10. Bailey, D.B., Skinner, D., Hatton, D., &, Roberts, J., (2000). Family experiences and factors associated with the diagnosis of fragile X syndrome. Journal of Developmental and Behavioral Pediatrics, 21, 315-321.
11. Barallobre, M.J., Perier, C., Bove, J., Laguna, A., Delabar, J.M., Vila, M., &, Arbones, M.L., (2014). DYRK1A promotes dopaminergic neuron survival in the developing brain and in a mouse model of Parkinson's disease. Cell Death & Disease, 5.
12. Batty, M.J., Liddle, E.B., Pitiot, A., Toro, R., Groom, M.J., Scerif, G.,... &, Hollis, C., (2010). Cortical gray matter in attention-deficit/hyperactivity disorder: A structural magnetic resonance imaging study. Journal of the American Academy of Child and Adolescent Psychiatry, 49, 229-238.
13. Bear, M.F., Huber, K.M., &, Warren, S.T., (2004). The mGIuR theory of fragile X mental retardation. Trends in Neurosciences, 27, 370-377.
14. Berry, R.J., Leitner, R.P., Clarke, A.R., &, Einfeld, S.L., (2005). Behavioral aspects of Angelman syndrome: A case control study. American Journal of Medical Genetics Part A, 132A, 8-12.
15. Berry-Kravis, E., Hessl, D., Abbeduto, L., Reiss, A.L., Beckel-Mitchener, A., Urv, T.K., & Outcome Measures Working, G. (2013). Outcome measures for clinical trials in fragile X syndrome. Journal of Developmental and Behavioral Pediatrics, 34, 508-522.
16. Bird, L.M., (2014). Angelman syndrome: Review of clinical and molecular aspects. The application of clinical genetics, 7, 93-104.
17. Bishop, D.V.M., Jacobs, P.A., Lachlan, K., Wellesley, D., Barnicoat, A., Boyd, P.A.,... &, Scerif, G., (2011). Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood, 96, 954-959.
18. Bishop, D.V.M., &, Scerif, G., (2011). Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: The neuroligin-neurexin hypothesis. Acta Paediatrica, 100, 903-907.
19. Boda, B., Alberi, S., Nikonenko, I., Node-Langlois, R., Jourdain, P., Moosmayer, M.,... &, Muller, D., (2004). The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus. Journal of Neuroscience, 24, 10816-10825.
20. van Bon, B.W.M., Mefford, H.C., Menten, B., Koolen, D.A., Sharp, A.J., Nillesen, W.M.,... &, de Vries, B.B.A., (2009). Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics, 46, 511-523.
21. Borella, E., Carretti, B., &, Lanfranchi, S., (2013). Inhibitory mechanisms in down syndrome: Is there a specific or general deficit? Research in Developmental Disabilities, 34, 65-71.
22. Bray, S., Hoeft, F., Hong, D.S., &, Reiss, A.L., (2013). Aberrant functional network recruitment of posterior parietal cortex in turner syndrome. Human Brain Mapping, 34, 3117-3128.
23. Breckenridge, K., Braddick, O., Anker, S., Woodhouse, M., &, Atkinson, J., (2013). Attention in Williams syndrome and down's syndrome: Performance on the new early childhood attention battery. British Journal of Developmental Psychology, 31, 257-269.
24. Brookes, K.J., Hawi, Z., Kirley, A., Barry, E., Gill, M., &, Kent, L., (2008). Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 147B, 1531-1535.
25. Campbell, L.E., Daly, E., Toal, F., Stevens, A., Azuma, R., Karmiloff-Smith, A.,... &, Murphy, K.C., (2009). Brain structural differences associated with the behavioural phenotype in children with Williams syndrome. Brain Research, 1258, 96-107.
26. Castellanos, F.X., &, Proal, E., (2012). Large-scale brain systems in ADHD: Beyond the prefrontal-striatal model. Trends in Cognitive Sciences, 16, 17-26.
27. Castellanos, F.X., Sonuga-Barke, E.J.S., Milham, M.P., &, Tannock, R., (2006). Characterizing cognition in ADHD: Beyond executive dysfunction. Trends in Cognitive Sciences, 10, 117-123.
28. Clayton-Smith, J., (2001). Angelman syndrome: Evolution of the phenotype in adolescents and adults. Developmental Medicine and Child Neurology, 43, 476-480.
29. Cornish, K., Cole, V., Longhi, E., Karmiloff-Smith, A., &, Scerif, G., (2012). Does attention constrain developmental trajectories in fragile X syndrome? A 3-year prospective longitudinal study Ajidd-American Journal on Intellectual and Developmental Disabilities, 117, 103.
30. Cornish, K., Cole, V., Longhi, E., Karmiloff-Smith, A., &, Scerif, G., (2013). Mapping developmental trajectories of attention and working memory in fragile X syndrome: Developmental freeze or developmental change? Development and Psychopathology, 25, 365-376.
31. Cornish, K., Scerif, G., &, Karmiloff-Smith, A., (2007). Tracing syndrome-specific trajectories of attention across the lifespan. Cortex, 43, 672-685.
32. Cornish, K., Steele, A., Rondinelli Cobra Monteiro, C., Karmiloff-Smith, A., &, Scerif, G., (2012). Attention deficits predict phenotypic outcomes in syndrome-specific and domain-specific ways. Frontiers in Psychology, 3.
33. Cortese, S., Kelly, C., Chabernaud, C., Proal, E., Di Martino, A., Milham, M.P., &, Castellanos, F.X., (2012). Toward systems neuroscience of ADHD: A meta-analysis of 55 fMRI studies. American Journal of Psychiatry, 169, 1038-1055.
34. Courcet, J.-B., Faivre, L., Malzac, P., Masurel-Paulet, A., Lopez, E., Callier, P.,... &, Thauvin-Robinet, C., (2012). The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. Journal of Medical Genetics, 49, 731-736.
35. Davies, W., Humby, T., Isles, A.R., Burgoyne, P.S., &, Wilkinson, L.S., (2007). X-monosomy effects on visuospatial attention in mice: A candidate gene and implications for turner syndrome and attention deficit hyperactivity disorder. Biological Psychiatry, 61, 1351-1360.
36. Dubos, A., Combeau, G., Bernardinelli, Y., Barnier, J.-V., Hartley, O., Gaertner, H.,... &, Muller, D., (2012). Alteration of synaptic network dynamics by the intellectual disability protein PAK3. Journal of Neuroscience, 32, 519-527.
37. Durston, S., Tottenham, N.T., Thomas, K.M., Davidson, M.C., Eigsti, I.M., Yang, Y.H.,... &, Casey, B.J., (2003). Differential patterns of striatal activation in young children with and without ADHD. Biological Psychiatry, 53, 871-878.
38. Dyer-Friedman, J., Glaser, B., Hessl, D., Johnston, C., Huffman, L.C., Taylor, A.,... &, Reiss, A.L., (2002). Genetic and environmental influences on the cognitive outcomes of children with fragile X syndrome. Journal of the American Academy of Child and Adolescent Psychiatry, 41, 237-244.
39. Earls, L.R., Fricke, R.G., Yu, J., Berry, R.B., Baldwin, L.T., &, Zakharenko, S.S., (2012). Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia. Journal of Neuroscience, 32, 14132-14144.
40. Edgin, J.O., Pennington, B.F., &, Mervis, C.B., (2010). Neuropsychological components of intellectual disability: The contributions of immediate, working, and associative memory. Journal of Intellectual Disability Research, 54, 406-417.
41. Einfeld, S.L., &, Tonge, B.J., (1996). Population prevalence of psychopathology in children and adolescents with intellectual disability.2. Epidemiological findings. Journal of Intellectual Disability Research, 40, 99-109.
42. Ekstein, S., Glick, B., Weill, M., Kay, B., &, Berger, I., (2011). Down syndrome and attention-deficit/hyperactivity disorder (ADHD). Journal of Child Neurology, 26, 1290-1295.
43. Elia, J., Glessner, J.T., Wang, K., Takahashi, N., Shtir, C.J., Hadley, D.,... &, Hakonarson, H., (2012). Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature Genetics, 44, 78-U113.
44. Elison, S., Stinton, C., &, Howlin, P., (2010). Health and social outcomes in adults with Williams syndrome: Findings from cross-sectional and longitudinal cohorts. Research in Developmental Disabilities, 31, 587-599.
45. Emerson, E., &, Hatton, C., (2007). Mental health of children and adolescents with intellectual disabilities in Britain. British Journal of Psychiatry, 191, 493-499.
46. Fair, D.A., Bathula, D., Nikolas, M.A., &, Nigg, J.T., (2012). Distinct neuropsychological subgroups in typically developing youth inform heterogeneity in children with ADHD. Proceedings of the National Academy of Sciences of the United States of America, 109, 6769-6774.
47. Farzin, F., Rivera, S.M., &, Whitney, D., (2011). Resolution of spatial and temporal visual attention in infants with fragile X syndrome. Brain, 134, 3355-3368.
48. Fenelon, K., Xu, B., Lai, C.S., Mukai, J., Markx, S., Stark, K.L.,... &, Gogos, J.A., (2013). The pattern of cortical dysfunction in a mouse model of a schizophrenia-related microdeletion. Journal of Neuroscience, 33, 14825-14839.
49. Ford, T., Goodman, R., &, Meltzer, H., (2003). The British child and adolescent mental health survey 1999: The prevalence of DSM-IV disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 42, 1203-1211.
50. Fung, L.K., Quintin, E.-M., Haas, B.W., &, Reiss, A.L., (2012). Conceptualizing neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome. Current Opinion in Neurology, 25, 112-124.
51. Gath, A., &, Gumley, D., (1986). Behavior problems in retarded-children with special reference to downs-syndrome. British Journal of Psychiatry, 149, 156-161.
52. Gizer, I.R., Ficks, C., &, Waldman, I.D., (2009). Candidate gene studies of ADHD: A meta-analytic review. Human Genetics, 126, 51-90.
53. Glaser, B., Hessl, D., Dyer-Friedman, J., Johnston, C., Wisbeck, J., Taylor, A., &, Reiss, A., (2003). Biological and environmental contributions to adaptive behavior in fragile X syndrome. American Journal of Medical Genetics Part A, 117A, 21-29.
54. Gothelf, D., Eliez, S., Thompson, T., Hinard, C., Penniman, L., Feinstein, C.,... &, Reiss, A.L., (2005). COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nature Neuroscience, 8, 1500-1502.
55. Gothelf, D., Furfaro, J.A., Hoeft, F., Eckert, M.A., Hall, S.S., O'Hara, R.,... &, Reiss, A.L., (2008). Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). Annals of Neurology, 63, 40-51.
56. Green, T., Weinberger, R., Diamond, A., Berant, M., Hirschfeld, L., Frisch, A.,... &, Gothelf, D., (2011). The effect of methylphenidate on prefrontal cognitive functioning, inattention, and hyperactivity in velocardiofacial syndrome. Journal of Child and Adolescent Psychopharmacology, 21, 589-595.
57. Greer, P.L., Hanayama, R., Bloodgood, B.L., Mardinly, A.R., Lipton, D.M., Flavell, S.W.,... &, Greenberg, M.E., (2010). The Angelman syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell, 140, 704-716.
58. Groom, M.J., Scerif, G., Liddle, P.F., Batty, M.J., Liddle, E.B., Roberts, K.L.,... &, Hollis, C., (2010). Effects of motivation and medication on electrophysiological markers of response inhibition in children with attention-deficit/hyperactivity disorder. Biological Psychiatry, 67, 624-631.
59. Grossman, A.W., Aldridge, G.M., Weiler, I.J., &, Greenough, W.T., (2006). Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond. Journal of Neuroscience, 26, 7151-7155.
60. Hall, S.S., Jiang, H., Reiss, A.L., &, Greicius, M.D., (2013). Identifying large-scale brain networks in fragile X syndrome. JAMA Psychiatry, 70, 1215-1223.
61. Hall, S.S., Lightbody, A.A., Hirt, M., Rezvani, A., &, Reiss, A.L., (2010). Autism in fragile X syndrome: A category mistake? Journal of the American Academy of Child and Adolescent Psychiatry, 49, 921-933.
62. Hayrapetyan, V., Castro, S., Sukharnikova, T., Yu, C., Cao, X., Jiang, Y.-H., &, Yin, H.H., (2014). Region-specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome. European Journal of Neuroscience, 39, 1018-1025.
63. Hazlett, H.C., Poe, M.D., Lightbody, A.A., Gerig, G., MacFall, J.R., Ross, A.K.,... &, Piven, J., (2009). Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism. Journal of Neurodevelopmental Disorders, 1, 81-90.
64. Hazlett, H.C., Poe, M.D., Lightbody, A.A., Styner, M., MacFall, J.R., Reiss, A.L., &, Piven, J., (2012). Trajectories of early brain volume development in fragile X syndrome and autism. Journal of the American Academy of Child and Adolescent Psychiatry, 51, 921-933.
65. Hennis, M.R., Marvin, M.A., Taylor, C.M., II, &, Goldberg, M.S., (2014). Surprising behavioral and neurochemical enhancements in mice with combined mutations linked to Parkinson's disease. Neurobiology of disease, 62, 113-123.
66. Hessl, D., Tassone, F., Cordeiro, L., Koldewyn, K., McCormick, C., Green, C.,... &, Hagerman, R.J., (2008). Brief report: Aggression and stereotypic behavior in males with fragile X syndrome-Moderating secondary genes in a "Single Gene" disorder. Journal of Autism and Developmental Disorders, 38, 184-189.
67. Hiroi, N., Takahashi, T., Hishimoto, A., Izumi, T., Boku, S., &, Hiramoto, T., (2013). Copy number variation at 22q11.2: From rare variants to common mechanisms of developmental neuropsychiatric disorders. Molecular Psychiatry, 18, 1153-1165.
68. Hoeft, F., Carter, J.C., Lightbody, A.A., Hazlett, H.C., Piven, J., &, Reiss, A.L., (2010). Region-specific alterations in brain development in one- to three-year-old boys with fragile X syndrome. Proceedings of the National Academy of Sciences of the United States of America, 107, 9335-9339.
69. Hoeft, F., Hernandez, A., Parthasarathy, S., Watson, C.L., Hall, S.S., &, Reiss, A.L., (2007). Fronto-striatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome. Human Brain Mapping, 28, 543-554.
70. Hoeft, F., Walter, E., Lightbody, A.A., Hazlett, H.C., Chang, C., Piven, J., &, Reiss, A.L., (2011). Neuroanatomical differences in Toddler boys with fragile X syndrome and idiopathic autism. Archives of General Psychiatry, 68, 295-305.
71. Holzapfel, M., Barnea-Goraly, N., Eckert, M.A., Kesler, S.R., &, Reiss, A.L., (2006). Selective alterations of white matter associated with visuospatial and sensorimotor dysfunction in Turner syndrome. Journal of Neuroscience, 26, 7007-7013.
72. Hong, D.S., Hoeft, F., Marzelli, M.J., Lepage, J.-F., Roeltgen, D., Ross, J., &, Reiss, A.L., (2014). Influence of the X-chromosome on neuroanatomy: Evidence from Turner and Klinefelter syndromes. Journal of Neuroscience, 34, 3509-3516.
73. Hong, D.S., &, Reiss, A.L., (2014). Cognitive and neurological aspects of sex chromosome aneuploidies. Lancet Neurology, 13, 306-318.
74. Hooper, S.R., Curtiss, K., Schoch, K., Keshavan, M.S., Allen, A., &, Shashi, V., (2013). A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome. Research in Developmental Disabilities, 34, 1758-1769.
75. Hooper, S.R., Hatton, D., Sideris, J., Sullivan, K., Hammer, J., Schaaf, J.,... &, Bailey, D.B., Jr, (2008). Executive functions in young males fragile X syndrome in comparison to mental age-matched with controls: Baseline findings from a longitudinal study. Neuropsychology, 22, 36-47.
76. Huang, W., Zhou, Z., Asrar, S., Henkelman, M., Xie, W., &, Jia, Z., (2011). p21-activated kinases 1 and 3 control brain size through coordinating neuronal complexity and synaptic properties. Molecular and Cellular Biology, 31, 388-403.
77. Iliff, A.J., Renoux, A.J., Krans, A., Usdin, K., Sutton, M.A., &, Todd, P.K., (2013). Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice. Human Molecular Genetics, 22, 1180-1192.
78. Insel, T., (2014). The NIMH Research Domain Criteria (RDoC) Project: Precision medicine for psychiatry. American Journal of Psychiatry. Epub.
79. Itier, J.M., Ibanez, P., Mena, M.A., Abbas, N., Cohen-Salmon, C., Bohme, G.A.,... &, de Yebenes, J.G., (2003). Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Human Molecular Genetics, 12, 2277-2291.
80. Itsara, A., Cooper, G.M., Baker, C., Girirajan, S., Li, J., Absher, D.,... &, Eichler, E.E., (2009). Population analysis of large copy number variants and hotspots of human genetic disease. American Journal of Human Genetics, 84, 148-161.
81. Jacquemont, S., Berry-Kravis, E., Hagerman, R., von Raison, F., Gasparini, F., Apostol, G.,... &, Gomez-Mancilla, B., (2014). The challenges of clinical trials in fragile X syndrome. Psychopharmacology (Berl), 231, 1237-1250.
82. Jarick, I., Volckmar, A.L., Puetter, C., Pechlivanis, S., Nguyen, T.T., Dauvermann, M.R.,... &, Hinney, A., (2014). Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder. Molecular Psychiatry, 19, 115-121.
83. Jensen, P.S., Hinshaw, S.P., Kraemer, H.C., Lenora, N., Newcorn, J.H., Abikoff, H.B.,... &, Vitiello, B., (2001). ADHD comorbidity findings from the MTA study: Comparing comorbid subgroups. Journal of the American Academy of Child and Adolescent Psychiatry, 40, 147-158.
84. Jiang, H.B., Ren, Y., Zhao, J.H., &, Feng, J., (2004). Parkin protects human dopaminergic neuroblastoma cells against dopamine-induced apoptosis. Human Molecular Genetics, 13, 1745-1754.
85. Karmiloff-Smith, A., (1998). Development itself is the key to understanding developmental disorders. Trends in Cognitive Sciences, 2, 389-398.
86. Karmiloff-Smith, A., (2013). Challenging the use of adult neuropsychological models for explaining neurodevelopmental disorders: Developed versus developing brains. Quarterly Journal of Experimental Psychology, 66, 1-14.
87. Kent, L., Emerton, J., Bhadravathi, V., Weisblatt, E., Pasco, G., Willatt, L.R.,... &, Yates, J.R.W., (2008). X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. Journal of Medical Genetics, 45, 519-524.
88. Kilarski, L.L., Pearson, J.P., Newsway, V., Majounie, E., Knipe, M.D.W., Misbahuddin, A.,... &, Morris, H.R., (2012). Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. Movement Disorders, 27, 1522-1529.
89. Lahey, B.B., Pelham, W.E., Loney, J., Lee, S.S., &, Willcutt, E., (2005). Instability of the DSM-IV subtypes of ADHD from preschool through elementary school. Archives of General Psychiatry, 62, 896-902.
90. Lanfranchi, S., Cornoldi, C., Drigo, S., &, Vianello, R., (2009). Working memory in individuals with fragile X syndrome. Child Neuropsychology, 15, 105-119.
91. Lara, C., Fayyad, J., de Graaf, R., Kessler, R.C., Aguilar-Gaxiola, S., Angermeyer, M.,... &, Sampson, N., (2009). Childhood predictors of adult attention-deficit/hyperactivity disorder: Results from the World Health Organization World Mental Health Survey Initiative. Biological Psychiatry, 65, 46-54.
92. Leggett, V., Jacobs, P., Nation, K., Scerif, G., &, Bishop, D.V.M., (2010). Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: A systematic review. Developmental Medicine and Child Neurology, 52, 119-129.
93. Leyfer, O.T., Woodruff-Borden, J., Klein-Tasman, B.P., Fricke, J.S., &, Mervis, C.B., (2006). Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 141B, 615-622.
94. Livingstone, P.D., Srinivasan, J., Kew, J.N.C., Dawson, L.A., Gotti, C., Moretti, M.,... &, Wonnacott, S., (2009). alpha 7 and non-alpha 7 nicotinic acetylcholine receptors modulate dopamine release in vitro and in vivo in the rat prefrontal cortex. European Journal of Neuroscience, 29, 539-550.
95. Loesch, D.Z., Huggins, R.M., Bui, Q.M., Epstein, J.L., Taylor, A.K., &, Hagerman, R.J., (2002). Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis. Journal of Developmental and Behavioral Pediatrics, 23, 416-423.
96. Maatta, T., Tervo-Maatta, T., Taanila, A., Kaski, M., &, Iivanainen, M., (2006). Mental health, behaviour and intellectual abilities of people with Down syndrome. Down's Syndrome, Research and Practice: The Journal of the Sarah Duffen Centre/University of Portsmouth, 11, 37-43.
97. Marenco, S., Siuta, M.A., Kippenhan, J.S., Grodofsky, S., Chang, W.-L., Kohn, P.,... &, Berman, K.F., (2007). Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome. Proceedings of the National Academy of Sciences of the United States of America, 104, 15117-15122.
98. Martens, M.A., Seyfer, D.L., Andridge, R.R., Foster, J.E.A., McClure, K.E., &, Coury, D.L., (2013). Caregiver survey of pharmacotherapy to treat attention deficit/hyperactivity disorder in individuals with Williams syndrome. Research in Developmental Disabilities, 34, 1700-1709.
99. Martens, M.A., Wilson, S.J., &, Reutens, D.C., (2008). Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype. Journal of Child Psychology and Psychiatry, 49, 576-608.
100. Meda, S.A., Pryweller, J.R., &, Thornton-Wells, T.A., (2012). Regional brain differences in cortical thickness, surface area and subcortical volume in individuals with Williams syndrome. PLoS ONE, 7, e31913. doi: 10.1371/journal.pone.0031913.
101. Meechan, D.W., Tucker, E.S., Maynard, T.M., &, LaMantia, A.-S., (2012). Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome. Proceedings of the National Academy of Sciences of the United States of America, 109, 18601-18606.
102. Meng, J.S., Meng, Y.H., Hanna, A., Janus, C., &, Jia, Z.P., (2005). Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. Journal of Neuroscience, 25, 6641-6650.
103. Meng, Y.H., Zhang, Y., Tregoubov, V., Janus, C., Cruz, L., Jackson, M.,... &, Jial, Z.P., (2002). Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice. Neuron, 35, 121-133.
104. Meredith, R.M., Dawitz, J., &, Kramvis, I., (2012). Sensitive time-windows for susceptibility in neurodevelopmental disorders. Trends in Neurosciences, 35, 335-344.
105. Merenstein, S.A., Sobesky, W.E., Taylor, A.K., Riddle, J.E., Tran, H.X., &, Hagerman, R.J., (1996). Molecular-clinical correlations in males with an expanded FMR1 mutation. American Journal of Medical Genetics, 64, 388-394.
106. Merla, G., Brunetti-Pierri, N., Micale, L., &, Fusco, C., (2010). Copy number variants at Williams-Beuren syndrome 7q11.23 region. Human Genetics, 128, 3-26.
107. Mobbs, D., Eckert, M.A., Mills, D., Korenberg, J., Bellugi, U., Galaburda, A.M., &, Reiss, A.L., (2007). Frontostriatal dysfunction in Williams syndrome. Biological Psychiatry, 62, 256-261.
108. Mukai, J., Dhilla, A., Drew, L.J., Stark, K.L., Cao, L., MacDermott, A.B.,... &, Gogos, J.A., (2008). Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion. Nature Neuroscience, 11, 1302-1310.
109. Mulherkar, S.A., &, Jana, N.R., (2010). Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome. Neurobiology of Disease, 40, 586-592.
110. Munir, F., Cornish, K.M., &, Wilding, J., (2000). A neuropsychological profile of attention deficits in young males with fragile X syndrome. Neuropsychologia, 38, 1261-1270.
111. Neale, B.M., Medland, S.E., Ripke, S., Asherson, P., Franke, B., Lesch, K.-P.,... &, Psychiat, G.C.A.S., (2010). Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 49, 884-897.
112. Neece, C.L., Baker, B.L., Blacher, J., &, Crnic, K.A., (2011). Attention-deficit/hyperactivity disorder among children with and without intellectual disability: An examination across time. Journal of Intellectual Disability Research, 55, 623-635.
113. Nigg, J.T., Willcutt, E.G., Doyle, A.E., &, Sonuga-Barke, E.J.S., (2005). Causal heterogeneity in attention-deficit/hyperactivity disorder: Do we need neuropsychologically impaired subtypes? Biological Psychiatry, 57, 1224-1230.
114. Nithianantharajah, J., Komiyama, N.H., McKechanie, A., Johnstone, M., Blackwood, D.H., St Clair, D.,... &, Grant, S.G.N., (2013). Synaptic scaffold evolution generated components of vertebrate cognitive complexity. Nature Neuroscience, 16, 16-U37.
115. van Nuenen, B.F.L., Weiss, M.M., Bloem, B.R., Reetz, K., van Eimeren, T., Lohmann, K.,... &, Siebner, H.R., (2009). Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype. Neurology, 72, 1041-1047.
116. Oliver, C., Berg, K., Moss, J., Arron, K., &, Burbidge, C., (2011). Delineation of behavioral phenotypes in genetic syndromes: Characteristics of autism spectrum disorder, affect and hyperactivity. Journal of Autism and Developmental Disorders, 41, 1019-1032.
117. Ortiz-Abalia, J., Sahun, I., Altafaj, X., Andreu, N., Estivill, X., Dierssen, M., &, Fillat, C., (2008). Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of down syndrome. American Journal of Human Genetics, 83, 479-488.
118. Paterson, S.J., Brown, J.H., Gsodl, M.K., Johnson, M.H., &, Karmiloff-Smith, A., (1999). Cognitive modularity and genetic disorders. Science, 286, 2355-2358.
119. Peippo, M., Koivisto, A.M., Sarkamo, T., Sipponen, M., von Koskull, H., Ylisaukko-oja, T.,... &, Jarvela, I., (2007). PAK3 related mental disabillity: Further characterization of the phenotype. American Journal of Medical Genetics Part A, 143A, 2406-2416.
120. Pelc, K., Cheron, G., &, Dan, B., (2008). Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatric disease and treatment, 4, 577-584.
121. Peng, D.X., Kelley, R.G., Quintin, E.-M., Raman, M., Thompson, P.M., &, Reiss, A.L., (2014). Cognitive and behavioral correlates of caudate subregion shape variation in fragile X syndrome. Human Brain Mapping, 35, 2861-2868.
122. Peters, S.U., Kaufmann, W.E., Bacino, C.A., Anderson, A.W., Adapa, P., Chu, Z.,... &, Wilde, E.A., (2011). Alterations in white matter pathways in Angelman syndrome. Developmental Medicine and Child Neurology, 53, 361-367.
123. Pignatelli, M., Piccinin, S., Molinaro, G., Di Menna, L., Riozzi, B., Cannella, M.,... &, Bruno, V., (2014). Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling Angelman syndrome. Journal of Neuroscience, 34, 4558-4566.
124. Poelmans, G., Pauls, D.L., Buitelaar, J.K., &, Franke, B., (2011). Integrated genome-wide association study findings: Identification of a neurodevelopmental network for attention deficit hyperactivity disorder. American Journal of Psychiatry, 168, 365-377.
125. Polanczyk, G., de Lima, M.S., Horta, B.L., Biederman, J., &, Rohde, L.A., (2007). The worldwide prevalence of ADHD: A systematic review and metaregression analysis. American Journal of Psychiatry, 164, 942-948.
126. Quintero, A.I., Beaton, E.A., Harvey, D.J., Ross, J.L., &, Simon, T.J., (2014). Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion, fragile X or Turner syndromes. Journal of Neurodevelopmental Disorders, 6, 5.
127. Reiss, A.L., Eckert, M.A., Rose, F.E., Karchemskiy, A., Kesler, S., Chang, M.,... &, Galaburda, A., (2004). An experiment of nature: Brain anatomy parallels cognition and behavior in Williams syndrome. Journal of Neuroscience, 24, 5009-5015.
128. Rhodes, S.M., Riby, D.M., Fraser, E., &, Campbell, L.E., (2011). The extent of working memory deficits associated with Williams syndrome: Exploration of verbal and spatial domains and executively controlled processes. Brain and Cognition, 77, 208-214.
129. Rhodes, S.M., Riby, D.M., Matthews, K., &, Coghill, D.R., (2011). Attention-deficit/hyperactivity disorder and Williams syndrome: Shared behavioral and neuropsychological profiles. Journal of Clinical and Experimental Neuropsychology, 33, 147-156.
130. Rhodes, S.M., Riby, D.M., Park, J., Fraser, E., &, Campbell, L.E., (2010). Executive neuropsychological functioning in individuals with Williams syndrome. Neuropsychologia, 48, 1216-1226.
131. Riday, T.T., Dankoski, E.C., Krouse, M.C., Fish, E.W., Walsh, P.L., Han, J.E.,... &, Malanga, C.J., (2012). Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome. Journal of Clinical Investigation, 122, 4544-4554.
132. Roberts, J.E., Hatton, D.D., Long, A.C.J., Anello, V., &, Colombo, J., (2012). Visual attention and autistic behavior in infants with fragile X syndrome. Journal of Autism and Developmental Disorders, 42, 937-946.
133. Roberts, J.E., Miranda, M., Boccia, M., Janes, H., Tonnsen, B.L., &, Hatton, D.D., (2011). Treatment effects of stimulant medication in young boys with fragile X syndrome. Journal of Neurodevelopmental Disorders, 3, 175-184.
134. Ross, J.L., Zeger, M.P.D., Kushner, H., Zinn, A.R., &, Roeltgen, D.P., (2009). An extra X OR Y chromosome: Contrasting the cognitive and motor phenotypes in childhood in boys with 47, XYY syndrome OR 47, XXY Klinefelter syndrome. Developmental Disabilities Research Reviews, 15, 309-317.
135. Russell, H.F., Wallis, D., Mazzocco, M.M.M., Moshang, T., Zackai, E., Zinn, A.R.,... &, Muenke, M., (2006). Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. Journal of Pediatric Psychology, 31, 945-955.
136. Scerif, G., (2010). Attention trajectories, mechanisms and outcomes: At the interface between developing cognition and environment. Developmental Science, 13, 805-812.
137. Scerif, G., Cornish, K., Wilding, J., Driver, J., &, Karmiloff-Smith, A., (2004). Visual search in typically developing toddlers and toddlers with Fragile X or Williams syndrome. Developmental Science, 7, 116-130.
138. Scerif, G., &, Karmiloff-Smith, A., (2005). The dawn of cognitive genetics? Crucial developmental caveats. Trends in Cognitive Sciences, 9, 126-135.
139. Scerif, G., Karmiloff-Smith, A., Campos, R., Elsabbagh, M., Driver, J., &, Cornish, K., (2005). To look or not to look? Typical and atypical development of oculomotor control. Journal of Cognitive Neuroscience, 17, 591-604.
140. Scerif, G., Longhi, E., Cole, V., Karmiloff-Smith, A., &, Cornish, K., (2012). Attention across modalities as a longitudinal predictor of early outcomes: The case of fragile X syndrome. Journal of Child Psychology and Psychiatry, 53, 641-650.
141. Scerif, G., &, Steele, A., (2011). Neurocognitive development of attention across genetic syndromes: Inspecting a disorder's dynamics through the lens of another. In, O. Braddick, J. Atkinson, &, G.M. Innocenti, (Eds.), Gene expression to neurobiology and behavior: Human brain development and developmental disorders. Progress in Brain Research, 189, 285-301.
142. Schneider, M., Debbane, M., Bassett, A.S., Chow, E.W.C., Fung, W.L.A., van den Bree, M.B.M.,... & Int Consortium Brain Behav q. (2014). Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: Results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. American Journal of Psychiatry, 171, 627-639.
143. Segura-Puimedon, M., Borralleras, C., Perez-Jurado, L.A., &, Campuzano, V., (2013). TFII-I regulates target genes in the PI-3K and TGF-beta signaling pathways through a novel DNA binding motif. Gene, 527, 529-536.
144. Shashi, V., Kwapil, T.R., Kaczorowski, J., Berry, M.N., Santos, C.S., Howard, T.D.,... &, Keshavan, M.S., (2010). Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome. Psychiatry Research-Neuroimaging, 181, 1-8.
145. Shaw, P., Eckstrand, K., Sharp, W., Blumenthal, J., Lerch, J.P., Greenstein, D.,... &, Rapoport, J.L., (2007). Attention-deficit/hyperactivity disorder is characterized by a delay in cortical maturation. Proceedings of the National Academy of Sciences of the United States of America, 104, 19649-19654.
146. Simon, T.J., Bish, J.P., Bearden, C.E., Ding, L.J., Ferrante, S., Nguyen, V.,... &, Emanuel, B.S., (2005). A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q 11.2 deletion syndrome in children. Development and Psychopathology, 17, 753-784.
147. Simonoff, E., Pickles, A., Wood, N., Gringras, P., &, Chadwick, O., (2007). ADHD symptoms in children with mild intellectual disability. Journal of the American Academy of Child and Adolescent Psychiatry, 46, 591-600.
148. Simonoff, E., Taylor, E., Baird, G., Bernard, S., Chadwick, O., Liang, H.,... &, Jichi, F., (2013). Randomized controlled double-blind trial of optimal dose methylphenidate in children and adolescents with severe attention deficit hyperactivity disorder and intellectual disability. Journal of Child Psychology and Psychiatry, 54, 527-535.
149. Souchet, B., Guedj, F., Sahun, I., Duchon, A., Daubigney, F., Badel, A.,... &, Delabar, J.M., (2014). Excitation/inhibition balance and learning are modified by Dyrk1a gene dosage. Neurobiology of Disease, 69, 65-75.
150. Stergiakouli, E., Hamshere, M., Holmans, P., Langley, K., Zaharieva, I., Hawi, Z.,... &, Subgrp, A., (2012). Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD. American Journal of Psychiatry, 169, 186-194.
151. Sullivan, K., Hatton, D., Hammer, J., Sideris, J., Hooper, S., Ornstein, P., &, Bailey, D., Jr, (2006). ADHD symptoms in children with FXS. American Journal of Medical Genetics Part A, 140A, 2275-2288.
152. Sullivan, K., Hatton, D.D., Hammer, J., Sideris, J., Hooper, S., Ornstein, P.A., &, Bailey, D.B., Jr, (2007). Sustained attention and response inhibition in boys with fragile X syndrome: Measures of continuous performance. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 144B, 517-532.
153. Swillen, A., Fryns, J.P., Kleczkowska, A., Massa, G., Vanderschuerenlodeweyckx, M., &, Vandenberghe, H., (1993). Intelligence, behavior and psychosocial development in Turner syndrome-A cross-sectional study of 50 Preadolescent and adolescent girls (4-20 years). Genetic Counseling, 4, 7-18.
154. Tartaglia, N.R., Ayari, N., Hutaff-Lee, C., &, Boada, R., (2012). Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY. Journal of Developmental and Behavioral Pediatrics, 33, 309-318.
155. Thapar, A., Cooper, M., Eyre, O., &, Langley, K., (2013). Practitioner Review: What have we learnt about the causes of ADHD? Journal of Child Psychology and Psychiatry, 54, 3-16.
156. Thapar, A., &, Harold, G., (2014). Editorial perspective: Why is there such a mismatch between traditional heritability estimates and molecular genetic findings for behavioural traits? Journal of child psychology and psychiatry, and allied disciplines, 55, 1088-1091.
157. Thomas, M.S.C., Annaz, D., Ansari, D., Scerif, G., Jarrold, C., &, Karmiloff-Smith, A., (2009). Using developmental trajectories to understand developmental disorders. Journal of Speech Language and Hearing Research, 52, 336-358.
158. Torrioli, M.G., Vernacotola, S., Peruzzi, L., Tabolacci, E., Mila, M., Militerni, R.,... &, Neri, G., (2008). A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys. American Journal of Medical Genetics Part A, 146A, 803-812.
159. Torrioli, M.G., Vernacotola, S., Setini, C., Bevilacqua, F., Martinelli, D., Snape, M.,... &, Neri, G., (2010). Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys. American Journal of Medical Genetics Part A, 152A, 1420-1427.
160. Trent, S., &, Davies, W., (2012). The influence of sex-linked genetic mechanisms on attention and impulsivity. Biological Psychology, 89, 1-13.
161. Turk, J., (1998). Fragile X syndrome and attentional deficits. Journal of Applied Research in Intellectual Disabilities, 11, 175-191.
162. Van der Molen, M.J.W., Van der Molen, M.W., Ridderinkhof, K.R., Hamel, B.C.J., Curfs, L.M.G., &, Ramakers, G.J.A., (2012). Auditory and visual cortical activity during selective attention in fragile X syndrome: A cascade of processing deficiencies. Clinical Neurophysiology, 123, 720-729.
163. Volkow, N.D., Wang, G.J., Fowler, J.S., &, Ding, Y.S., (2005). Imaging the effect of methylphenidate on brain dopamine: New model on its therapeutic actions for attention-deficit/hyperactivity disorder. Biological Psychiatry, 57, 1410-1415.
164. Walter, E., Mazaika, P.K., &, Reiss, A.L., (2009). Insights into brain development from neurogenetic syndromes: Evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. Neuroscience, 164, 257-271.
165. Wheeler, A., Raspa, M., Bann, C., Bishop, E., Hessl, D., Sacco, P., &, Bailey, D.B., Jr, (2014). Anxiety, attention problems, hyperactivity, and the aberrant behavior checklist in fragile X syndrome. American Journal of Medical Genetics Part A, 164, 141-155.
166. White, N.S., Alkire, M.T., &, Haier, R.J., (2003). A voxel-based morphometric study of nondemented adults with Down Syndrome. NeuroImage, 20, 393-403.
167. Willcutt, E.G., Doyle, A.E., Nigg, J.T., Faraone, S.V., &, Pennington, B.F., (2005). Validity of the executive function theory of attention-deficit/hyperactivity disorder: A meta-analytic review. Biological Psychiatry, 57, 1336-1346.
168. Williams, C.A., Driscoll, D.J., &, Dagli, A.I., (2010). Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine, 12, 385-395.
169. Williams, N.M., Franke, B., Mick, E., Anney, R.J.L., Freitag, C.M., Gill, M.,... &, Faraone, S.V., (2012). Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: The role of rare variants and duplications at 15q13.3. American Journal of Psychiatry, 169, 195-204.
170. Williams, N.M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R.,... &, Thapar, A., (2010). Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: A genome-wide analysis. Lancet, 376, 1401-1408.
171. Yabut, O., Domogauer, J., &, D'Arcangelo, G., (2010). Dyrk1A overexpression inhibits proliferation and induces premature neuronal differentiation of neural progenitor cells. Journal of Neuroscience, 30, 4004-4014.
172. Yang, L., Neale, B.M., Liu, L., Lee, S.H., Wray, N.R., Ji, N.,... &, Psychiat, G.C.A., (2013). Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: Genome-wide association study of both common and rare variants. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 162B, 419-430.
173. Yashiro, K., Riday, T.T., Condon, K.H., Roberts, A.C., Bernardo, D.R., Prakash, R.,... &, Philpot, B.D., (2009). Ube3a is required for experience-dependent maturation of the neocortex. Nature Neuroscience, 12, 777-U132.
174. Zhu, X.-R., Maskri, L., Herold, C., Bader, V., Stichel, C.C., Guentuerkuen, O., &, Luebbert, H., (2007). Non-motor behavioural impairments in parkin-deficient mice. European Journal of Neuroscience, 26, 1902-1911.