Neurobiological basis of autism

Pediatric Clinics of North America

Volumn 59, Issue 1, 2012, Pages 45-61

  Silver, Wendy G ^a,b   Rapin, Isabelle ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b NEW YORK MEDICAL COLLEGE   (United States)

Author keywords

Autism; Epilepsy; Neurology; Sensorimotor; Sleep

Indexed keywords

AUTISM; BEHAVIOR DISORDER; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EPILEPSY; HUMAN; INTELLIGENCE; LANGUAGE DISABILITY; MOTOR DYSFUNCTION; NEUROBIOLOGY; NEUROIMAGING; NEUROPATHOLOGY; REVIEW; SENSORY DYSFUNCTION; SLEEP DISORDER; SLEEP PATTERN;

ADOLESCENT; BRAIN; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; DIAGNOSTIC IMAGING; EPILEPSY; HUMANS; INFANT; INFANT, NEWBORN; MOTOR SKILLS DISORDERS; SENSATION DISORDERS; SLEEP DISORDERS;

EID: 84856288282     PISSN: 00313955     EISSN: 15578240     Source Type: Journal    
DOI: 10.1016/j.pcl.2011.10.010     Document Type: Review

References (91)

1. Diagnostic and statistical manual of mental disorders 2000, (DSM-IV-TR™, 2000), American Psychiatric Association, Washington, DC. 4th edition. M.B. First (Ed.).
2. Abrahams B.S., Geschwind D.H. Connecting genes to brain in the autism spectrum disorders. Arch Neurol 2010, 67(4):395-399.
3. Amaral D.G., Schumann C.M., Nordahl C.W. Neuroanatomy of autism. Trends Neurosci 2008, 31(3):137-145.
4. van Kooten I.A.J., Palmen S.J.M.C., von Cappeln P., et al. Neurons in the fusiform gyrus are fewer and smaller in autism. Brain 2008, 131(4):987-999.
5. Courchesne E., Campbell K., Solso S. Brain growth across the life span in autism: age-specific changes in anatomical pathology. Brain Res 2011, 1380:138-145.
6. Varga E.A., Pastore M., Prior T., et al. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med 2009, 11(2):111-117.
7. Herbert M.R., Ziegler D.A., Makris N., et al. Localization of white matter volume increase in autism and developmental language disorder. Ann Neurol 2004, 55(4):530-540.
8. Verhoeven J.S., De Cock P., Lagae L., et al. Neuroimaging of autism. Neuroradiology 2010, 52(1):3-14.
9. Bauman M., Kemper T.L. Histoanatomic observations of the brain in early infantile autism. Neurology 1985, 35(6):866-874.
10. Rizzolatti G., Fabbri-Destro M. Mirror neurons: from discovery to autism. Exp Brain Res 2010, 200(3-4):223-237.
11. Wan C.Y., Demaine K., Zipse L., et al. From music making to speaking: engaging the mirror neuron system in autism. Brain Res Bull 2010, 82(3-4):161-168.
12. Vargas D.L., Nascimbene C., Krishnan C., et al. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol 2005, 57(1):67-81.
13. Nelson K.B., Grether J.K., Croen L.A., et al. Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. Ann Neurol 2001, 49(5):597-606.
14. Kelly K.R., Moshe' S.L. Electrophysiology and epilepsy in autism. Autism: A neurological disorder of early brain development 2006, 160-173. Mac Keith Press for the International Child Neurology Association, London. 1st edition. R. Tuchman, I. Rapin (Eds.).
15. Tuchman R., Moshe S.L., Rapin I. Convulsing toward the pathophysiology of autism. Brain Dev 2009, 31(2):95-103.
16. Sicca F., Imbrici P., D'Adamo M.C., et al. Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K(+) channel Kir4.1. Neurobiol Dis 2011, 43(1):239-247.
17. Tuchman R., Cuccaro M., Alessandri M. Autism and epilepsy: historical perspective. Brain Dev 2010, 32(9):709-718.
18. Saemundsen E., Ludvigsson P., Hilmarsdottir I., et al. Autism spectrum disorders in children with seizures in the first year of life - a population-based study. Epilepsia 2007, 48(9):1724-1730.
19. Riikonen R., Amnell G. Psychiatric disorders in children with earlier infantile spasms. Dev Med Child Neurol 1981, 23(6):747-760.
20. Taft L.T., Cohen H.J. Hypsarrhythmia and infantile autism: a clinical report. JAutism Child Schizophr 1971, 1(3):327-336.
21. Saemundsen E., Ludvigsson P., Rafnsson V. Autism spectrum disorders in children with a history of infantile spasms: a population-based study. JChild Neurol 2007, 22(9):1102-1107.
22. Saemundsen E., Ludvigsson P., Rafnsson V. Risk of autism spectrum disorders after infantile spasms: a population-based study nested in a cohort with seizures in the first year of life. Epilepsia 2008, 49(11):1865-1870.
23. Amiet C., Gourfinkel-An I., Bouzamondo A., et al. Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis. Biol Psychiatry 2008, 64(7):577-582.
24. Levisohn P.M. The autism-epilepsy connection. Epilepsia 2007, 48:33-35.
25. De Vries P.J. What can we learn from tuberous sclerosis complex (TSC) about autism?. JIntellect Disabil Res 2008, 52(10):818.
26. Asano E., Chugani D.C., Muzik O., et al. Autism in tuberous sclerosis complex is related to both cortical and subcortical dysfunction. Neurology 2001, 57(7):1269-1277.
27. Besag F.M. The relationship between epilepsy and autism: a continuing debate. Acta Paediatr 2009, 98(4):618-620.
28. Grossman A.W., Aldridge G.M., Lee K.J., et al. Developmental characteristics of dendritic spines in the dentate gyrus of Fmr1 knockout mice. Brain Res 2010, 1355:221-227.
29. Hayashi M.L., Shankaranarayana Rao B.S., Seo J.-S., et al. Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice. Proc Natl Acad Sci USA 2007, 104(27):11489-11494.
30. Hagerman R.J., Berry-Kravis E., Kaufmann W.E., et al. Advances in the treatment of fragile X syndrome. Pediatrics 2009, 123(1):378-390.
31. Brooks-Kayal A. Epilepsy and autism spectrum disorders: are there common developmental mechanisms?. Brain Dev 2010, 32(9):731-738.
32. Munoz-Yunta J.A., Ortiz T., Palau-Baduell M., et al. Magnetoencephalographic pattern of epileptiform activity in children with early-onset autism spectrum disorders. Clin Neurophysiol 2008, 119(3):626-634.
33. Riikonen R. Long-term outcome of West syndrome: a study of adults with a history of infantile spasms. Epilepsia 1996, 37(4):367-372.
34. Jambaque I., Chiron C., Dumas C., et al. Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients. Epilepsy Res 2000, 38(2-3):151-160.
35. Shields W.D. Catastrophic epilepsy in childhood. Epilepsia 2000, 41(Suppl 2):S2-S6.
36. Tuchman R.F., Rapin I. Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. Pediatrics 1997, 99(4):560-566.
37. Giannotti F., Cortesi F., Cerquiglini A., et al. An investigation of sleep characteristics, EEG abnormalities and epilepsy in developmentally regressed and non-regressed children with autism. JAutism Dev Disord 2008, 38(10):1888-1897.
38. Trevathan E. Seizures and epilepsy among children with language regression and autistic spectrum disorders. JChild Neurol 2004, 19(Suppl 1):S49-S57.
39. Tuchman R. CSWS-related autistic regression versus autistic regression without CSWS. Epilepsia 2009, 50(Suppl 7):18-20.
40. Ballaban-Gil K., Tuchman R. Epilepsy and epileptiform EEG: association with autism and language disorders. Ment Retard Dev Disabil Res Rev 2000, 6(4):300-308.
41. Rapin I. Autistic regression and disintegrative disorder: how important the role of epilepsy?. Semin Pediatr Neurol 1995, 2(4):278-285.
42. Johnson K.P., Malow B.A. Sleep in children with autism spectrum disorders. Curr Treat Options Neurol 2008, 10(5):350-359.
43. Goodlin-Jones B.L., Tang K., Liu J., et al. Sleep patterns in preschool-age children with autism, developmental delay, and typical development. JAm Acad Child Adolesc Psychiatry 2008, 47(8):930-938.
44. Goldman S.E., Surdyka K., Cuevas R., et al. Defining the sleep phenotype in children with autism. Dev Neuropsychol 2009, 34(5):560-573.
45. Glickman G. Circadian rhythms and sleep in children with autism. Neurosci Biobehav Rev 2010, 34(5):755-768.
46. Malow B.A., Marzec M.L., McGrew S.G., et al. Characterizing sleep in children with autism spectrum disorders: a multidimensional approach. Sleep 2006, 29(12):1563-1571.
47. Liu X., Hubbard J.A., Fabes R.A., et al. Sleep disturbances and correlates of children with autism spectrum disorders. Child Psychiatry Hum Dev 2006, 37(2):179-191.
48. Krakowiak P., Goodlin-Jones B., Hertz-Picciotto I., et al. Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study. JSleep Res 2008, 17(2):197-206.
49. Wiggs L., Stores G. Sleep patterns and sleep disorders in children with autistic spectrum disorders: insights using parent report and actigraphy. Dev Med Child Neurol 2004, 46(6):372-380.
50. Allik H., Larsson J.O., Smedje H. Sleep patterns of school-age children with Asperger syndrome or high-functioning autism. JAutism Dev Disord 2006, 36(5):585-595.
51. Souders M.C., Mason T.B., Valladares O., et al. Sleep behaviors and sleep quality in children with autism spectrum disorders. Sleep 2009, 32(12):1566-1578.
52. Saper C.B., Scammell T.E., Lu J. Hypothalamic regulation of sleep and circadian rhythms. Nature 2005, 437(7063):1257-1263.
53. Richdale A.L., Schreck K.A. Sleep problems in autism spectrum disorders: prevalence, nature, possible biopsychosocial aetiologies. Sleep Med Rev 2009, 13(6):403-411.
54. Corbett B.A., Mendoza S., Abdullah M., et al. Cortisol circadian rhythms and response to stress in children with autism. Psychoneuroendocrinology 2006, 31(1):59-68.
55. Corbett B.A., Mendoza S., Wegelin J.A., et al. Variable cortisol circadian rhythms in children with autism and anticipatory stress. JPsychiatry Neurosci 2008, 33(3):227-234.
56. Giannotti F., Cortesi F., Cerquiglini A., et al. An open-label study of controlled-release melatonin in treatment of sleep disorders in children with autism. JAutism Dev Disord 2006, 36(6):741-752.
57. Allik H., Larsson J.O., Smedje H. Insomnia in school-age children with Asperger syndrome or high-functioning autism. BMC Psychiatry 2006, 6:18.
58. Reed H.E., McGrew S.G., Artibee K., et al. Parent-based sleep education workshops in autism. JChild Neurol 2009, 24(8):936-945.
59. Wirojanan J., Jacquemont S., Diaz R., et al. The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome. JClin Sleep Med 2009, 5(2):145-150.
60. Mindell J.A., Emslie G., Blumer J., et al. Pharmacologic management of insomnia in children and adolescents: consensus statement. Pediatrics 2006, 117(6):e1223-e1232.
61. Grandin T. Visual abilities and sensory differences in a person with autism. Biol Psychiatry 2009, 65(1):15-16.
62. Ben-Sasson A., Hen L., Fluss R., et al. Ameta-analysis of sensory modulation symptoms in individuals with autism spectrum disorders. JAutism Dev Disord 2009, 39(1):1-11.
63. Kern J.K., Trivedi M.H., Grannemann B.D., et al. Sensory correlations in autism. Autism 2007, 11(2):123-134.
64. Rapin I. Atypical sensory/perceptual responsiveness. Autism: a neurological disorder of early brain development 2006, 202-230. Mac Keith Press, London. 1st edition. R. Tuchman, I. Rapin (Eds.).
65. Rapin I., Tuchman R.F. Autism: definition, neurobiology, screening, diagnosis. Pediatr Clin North Am 2008, 55(5):1129-1146. viii.
66. Baranek G.T., David F.J., Poe M.D., et al. Sensory Experiences Questionnaire: discriminating sensory features in young children with autism, developmental delays, and typical development. JChild Psychol Psychiatry 2006, 47(6):591-601.
67. Leekam S.R., Nieto C., Libby S.J., et al. Describing the sensory abnormalities of children and adults with autism. JAutism Dev Disord 2007, 37(5):894-910.
68. Lane A.E., Dennis S.J., Geraghty M.E. Brief report: further evidence of sensory subtypes in autism. JAutism Dev Disord 2011, 41(6):826-831.
69. Mottron L., Mineau S., Martel G., et al. Lateral glances toward moving stimuli among young children with autism: early regulation of locally oriented perception?. Dev Psychopathol 2007, 19(1):23-36.
70. Jones W., Carr K., Klin A. Absence of preferential looking to the eyes of approaching adults predicts level of social disability in 2-year-old toddlers with autism spectrum disorder. Arch Gen Psychiatry 2008, 65(8):946-954.
71. Kern J.K., Trivedi M.H., Garver C.R., et al. The pattern of sensory processing abnormalities in autism. Autism 2006, 10(5):480-494.
72. Jones C.R., Happe F., Baird G., et al. Auditory discrimination and auditory sensory behaviours in autism spectrum disorders. Neuropsychologia 2009, 47(13):2850-2858.
73. Lane A.E., Young R.L., Baker A.E., et al. Sensory processing subtypes in autism: association with adaptive behavior. JAutism Dev Disord 2010, 40(1):112-122.
74. Cermak S.A., Curtin C., Bandini L.G. Food selectivity and sensory sensitivity in children with autism spectrum disorders. JAm Diet Assoc 2010, 110(2):238-246.
75. Chen Y.H., Rodgers J., McConachie H. Restricted and repetitive behaviours, sensory processing and cognitive style in children with autism spectrum disorders. JAutism Dev Disord 2009, 39(4):635-642.
76. Boyd B.A., Baranek G.T., Sideris J., et al. Sensory features and repetitive behaviors in children with autism and developmental delays. Autism Res 2010, 3(2):78-87.
77. Russo N., Foxe J.J., Brandwein A.B., et al. Multisensory processing in children with autism: high-density electrical mapping of auditory-somatosensory integration. Autism Res 2010, 3(5):253-267.
78. Mandelbaum D.E., Stevens M., Rosenberg E., et al. Sensorimotor performance in school-age children with autism, developmental language disorder, or low IQ. Dev Med Child Neurol 2006, 48(1):33-39.
79. Goldman S., Wang C., Salgado M.W., et al. Motor stereotypies in children with autism and other developmental disorders. Dev Med Child Neurol 2009, 51(1):30-38.
80. Gidley Larson J.C., Mostofsky S.H. Evidence that the pattern of visuomotor sequence learning is altered in children with autism. Autism Res 2008, 1(6):341-353.
81. Lewis M.H., Bodfish J.W. Repetitive behavior disorders in autism. Ment Retard Dev Disabil Res Rev 1998, 4(2):80-89.
82. MacDonald R., Green G., Mansfield R., et al. Stereotypy in young children with autism and typically developing children. Res Dev Disabil 2007, 28(3):266-277.
83. Rinehart N.J., Tonge B.J., Iansek R., et al. Gait function in newly diagnosed children with autism: cerebellar and basal ganglia related motor disorder. Dev Med Child Neurol 2006, 48(10):819-824.
84. Rinehart N.J., Tonge B.J., Bradshaw J.L., et al. Gait function in high-functioning autism and Asperger's disorder: evidence for basal-ganglia and cerebellar involvement?. Eur Child Adolesc Psychiatry 2006, 15(5):256-264.
85. Fournier K.A., Kimberg C.I., Radonovich K.J., et al. Decreased static and dynamic postural control in children with autism spectrum disorders. Gait Posture 2010, 32(1):6-9.
86. Molloy C.A., Dietrich K.N., Bhattacharya A. Postural stability in children with autism spectrum disorder. JAutism Dev Disord 2003, 33(6):643-652.
87. Provost B., Lopez B.R., Heimerl S. Acomparison of motor delays in young children: autism spectrum disorder, developmental delay, and developmental concerns. JAutism Dev Disord 2007, 37(2):321-328.
88. Jansiewicz E.M., Goldberg M.C., Newschaffer C.J., et al. Motor signs distinguish children with high functioning autism and Asperger's syndrome from controls. JAutism Dev Disord 2006, 36(5):613-621.
89. Nayate A., Bradshaw J.L., Rinehart N.J. Autism and Asperger's disorder: are they movement disorders involving the cerebellum and/or basal ganglia?. Brain Res Bull 2005, 67(4):327-334.
90. Fuentes C.T., Mostofsky S.H., Bastian A.J. Children with autism show specific handwriting impairments. Neurology 2009, 73(19):1532-1537.
91. Fuentes C.T., Mostofsky S.H., Bastian A.J. Perceptual reasoning predicts handwriting impairments in adolescents with autism. Neurology 2010, 75(20):1825-1829.