Approaching motor and language deficits in autism from below: A biolinguistic perspective

Frontiers in Integrative Neuroscience

Volumn 9, Issue MAR, 2015, Pages

  Benítez Burraco, Antonio ^a   Boeckx, Cedric ^b,c  

^a UNIVERSITY OF HUELVA   (Spain)

^b INSTITUCIÓ CATALANA DE RECERCA I ESTUDIS AVANÇATS ICREA   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

Author keywords

ASD; Candidate genes; Externalization; Language; Language ready brain; Motor deficits; Speech; Vocal learning

Indexed keywords

ROUNDABOUT RECEPTOR; TRANSCRIPTION FACTOR FOXP2; TRANSCRIPTION FACTOR RUNX2;

AUTISM; AUTS2 GENE; COMORBIDITY; CORPUS CALLOSUM; ENDOPHENOTYPE; GABAERGIC SYSTEM; GENE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; INTERNEURON; LANGUAGE DISABILITY; MOTOR CONTROL; MOTOR DYSFUNCTION; NEUROPATHOLOGY; NOTE; PATHOPHYSIOLOGY; ROBO1 GENE; RUNX2 GENE; TBR1 GENE;

EID: 84927654676     PISSN: 16625145     EISSN: None     Source Type: Journal    
DOI: 10.3389/fnint.2015.00025     Document Type: Note

References (50)

1. Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., et al. (2008). Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet. 82, 150-159. doi: 10.1016/j.ajhg.2007.09.005
2. Banerjee, S., Blauth, K., Peters, K., Rogers, S. L., Fanning, A. S., and Bhat, M. A. (2010). Drosophila neurexin IV interacts with Roundabout and is required for repulsive midline axon guidance. J. Neurosci. 30, 5653-5667. doi: 10.1523/JNEUROSCI.6187-09.2010
3. Bedogni, F., Hodge, R. D., Elsen, G. E., Nelson, B. R., Daza, R. A., Beyer, R. P., et al. (2010). Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex. Proc. Natl. Acad. Sci. U.S.A. 107, 13129-13134. doi: 10.1073/pnas.1002285107
4. Belmonte, M. K., Saxena-Chandhok, T., Cherian, R., Muneer, R., George, L., and Karanth, P. (2013). Oral motor deficits in speech-impaired children with autism. Front. Integr. Neurosci. 7:47. doi: 10.3389/fnint.2013.00047
5. Boeckx, C., and Benítez-Burraco, A. (2014a). The shape of the human language-ready brain. Front. Psychol. 5:282. doi: 10.3389/fpsyg.2014.00282
6. Boeckx, C., and Benítez-Burraco, A. (2014b). Globularity and language-readiness: generating new predictions by expanding the set of genes of interest. Front. Psychol. 5:1324. doi: 10.3389/fpsyg.2014.01324
7. Butler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T. N., et al. (2005). Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J. Med. Genet. 42, 318-321. doi: 10.1136/jmg.2004.024646
8. Cheung, C., McAlonan, G. M., Fung, Y. Y., Fung, G., Yu, K. K., Tai, K. S., et al. (2011). MRI study of minor physical anomaly in childhood autism implicates aberrant neurodevelopment in infancy. PLoS ONE 6:e20246. doi: 10.1371/journal.pone.0020246
9. Chuang, H. C., Huang, T. N., and Hsueh, Y. P. (2015). T-Brain-1-a potential master regulator in autism spectrum disorders. Autism Res. doi: 10.1002/aur.1456. [Epub ahead of print].
10. Comings, D. E., Wu, S., Chiu, C., Muhleman, D., and Sverd, J. (1996). Studies of the c-Harvey-Ras gene in psychiatric disorders. Psychiatry Res. 63, 25-32. doi: 10.1016/0165-1781(96)02829-6
11. Deriziotis, P., O'Roak, B. J., Graham, S. A., Estruch, S. B., Dimitropoulou, D., Bernier, R. A., et al. (2014). De novo TBR1 mutations in sporadic autism disrupt protein functions. Nat. Commun. 5, 4954. doi: 10.1038/ncomms5954
12. De Rubeis, S., He, X., Goldberg, A., Poultney, C., Samocha, K., Ercument, C., et al. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515, 209-215. doi: 10.1038/nature13772
13. Di Cristo, G. (2007). Development of cortical GABAergic circuits and its implications for neurodevelopmental disorders. Clin. Genet. 72, 1-8. doi: 10.1111/j.1399-0004.2007.00822.x
14. Esposito, G., and Paşca, S. P. (2013). Motor abnormalities as a putative endophenotype for Autism spectrum disorders. Front. Integr. Neurosci. 7:43. doi: 10.3389/fnint.2013.00043
15. Fisher, S. E., and Scharff, C. (2009). FOXP2 as a molecular window into speech and language. Trends Genet. 25, 166-177. doi: 10.1016/j.tig.2009.03.002
16. Gibson, G. (2009). Decanalization and the origin of complex disease. Nat. Rev. Genet. 10, 134-140. doi: 10.1038/nrg2502
17. Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., et al. (2010). De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am. J. Hum. Genet. 87, 671-678. doi: 10.1016/j.ajhg.2010.09.017
18. Hevner, R., Shi, L., Justice, N., Hsueh, Y., Sheng, M., Smiga, S., et al. (2001). Tbr1 regulates differentiation of the preplate and layer 6. Neuron 29, 353-366. doi: 10.1016/S0896-6273(01)00211-2
19. Hickok, G., and Poeppel, D. (2007). The cortical organization of speech processing. Nat. Rev. Neurosci. 8, 393-402. doi: 10.1038/nrn2113
20. Huang, T. N., Chuang, H. C., Chou, W. H., Chen, C. Y., Wang, H. F., Chou, S. J., et al. (2014). Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality. Nat. Neurosci. 17, 240-247. doi: 10.1038/nn.3626
21. Ingalhalikar, M., Parker, D., Bloy, L., Roberts, T. P., and Verma, R. (2011). Diffusion based abnormality markers of pathology: toward learned diagnostic prediction of ASD. Neuroimage 57, 918-927. doi: 10.1016/j.neuroimage.2011.05.023
22. Jeremy Willsey, A., and State, M. W. (2014). Autism spectrum disorders: from genes to neurobiology. Curr. Opin. Neurobiol. 30, 92-99. doi: 10.1016/j.conb.2014.10.015
23. Jeste, S. S., and Geschwind, D. H. (2014). Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat. Rev. Neurol. 10, 74-81. doi: 10.1038/nrneurol.2013.278
24. Just, M. A., Cherkassky, V. L., Keller, T. A., and Minshew, N. J. (2004). Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity. Brain 127, 1811-1821. doi: 10.1093/brain/awh199
25. Kumar, A., Sundaram, S. K., Sivaswamy, L., Behen, M. E., Makki, M. I., Ager, J., et al. (2010). Alterations in frontal lobe tracts and corpus callosum in young children with autism spectrum disorder. Cereb. Cortex 20, 2103-2113. doi: 10.1093/cercor/bhp278
26. Kwan, K. Y. (2013). Transcriptional dysregulation of neocortical circuit assembly in ASD. Int. Rev. Neurobiol. 113, 167-205. doi: 10.1016/B978-0-12-418700-9.00006-X
27. Lin, M., Pedrosa, E., Shah, A., Hrabovsky, A., Maqbool, S., Zheng, D., et al. (2011). RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders. PLoS ONE 6:e23356. doi: 10.1371/journal.pone.0023356
28. Liu, X., Novosedlik, N., Wang, A., Hudson, M. L., Cohen, I. L., Chudley, A. E., et al. (2009). The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. Eur. J. Hum. Genet. 17, 228-235. doi: 10.1038/ejhg.2008.148
29. Maekawa, M., Iwayama, Y., Nakamura, K., Sato, M., Toyota, T., Ohnishi, T., et al. (2009). A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. Neurosci. Lett. 462, 267-271. doi: 10.1016/j.neulet.2009.07.021
30. McKenna, W. L., Betancourt, J., Larkin, K. A., Abrams, B., Guo, C., Rubenstein, J. L., et al. (2011). Tbr1 and Fezf2 regulate alternate corticofugal neuronal identities during neocortical development. J. Neurosci. 31, 549-564. doi: 10.1523/JNEUROSCI.4131-10.2011
31. Miller, E. K., and Buschman, T. J. (2007). "Rules through recursion: how interactions between the frontal cortex and basal ganglia may build abstract, complex, rules from concrete, simple, ones," in The Neuroscience of Rule-Guided Behavior, eds S. Bunge and J. Wallis (Oxford: Oxford University Press), 419-440.
32. Murphy, C. M., Christakou, A., Daly, E. M., Ecker, C., Giampietro, V., Brammer, M., et al. (2014). Abnormal functional activation and maturation of fronto-striato-temporal and cerebellar regions during sustained attention in autism spectrum disorder. Am. J. Psychiatry 171, 1107-1116. doi: 10.1176/appi.ajp.2014.12030352
33. Nair, A., Treiber, J. M., Shukla, D. K., Shih, P., and Müller, R. A. (2013). Impaired thalamocortical connectivity in autism spectrum disorder: a study of functional and anatomical connectivity. Brain 136, 1942-1955. doi: 10.1093/brain/awt079
34. Nakashima, N., Yamagata, T., Mori, M., Kuwajima, M., Suwa, K., and Momoi, M. Y. (2010). Expression analysis and mutation detection of DLX5 and DLX6 in autism. Brain Dev. 32, 98-104. doi: 10.1016/j.braindev.2008.12.021
35. Naqvi, S., Cole, T., and Graham, J. M. Jr. (2000). Cole-Hughes macrocephaly syndrome and associated autistic manifestations. Am. J. Med. Genet. 94, 149-152. doi: 10.1002/1096-8628(20000911)94:2<149::AID-AJMG7>3.0.CO;2-#
36. Oksenberg, N., and Ahituv, N. (2013). The role of AUTS2 in neurodevelopment and human evolution. Trends Genet. 29, 600-608. doi: 10.1016/j.tig.2013.08.001
37. Oksenberg, N., Haliburton, G. D., Eckalbar, W. L., Oren, I., Nishizaki, S., Murphy, K., et al. (2014). Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Transl. Psychiatry 4, e431. doi: 10.1038/tp.2014.78
38. O'Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., et al. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250. doi: 10.1038/nature10989
39. Palumbo, O., Fichera, M., Palumbo, P., Rizzo, R., Mazzolla, E., Cocuzza, D. M., et al. (2014). TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion. Am. J. Med. Genet. A 164A, 828-833. doi: 10.1002/ajmg.a.36363
40. Petkov, C., and Jarvis, E. D. (2012). Birds, primates, and spoken language origins: behavioral phenotypes and neurobiological substrates. Front. Evol. Neurosci. 4:12. doi: 10.3389/fnevo.2012.00012
41. Pfenning, A. R., Hara, E., Whitney, O., Rivas, M. V., Wang, R., Roulhac, P. L., et al. (2014). Convergent transcriptional specializations in the brains of humans and song-learning birds. Science 346:1256846. doi: 10.1126/science.1256846
42. Schreiweis, C., Bornschein, U., Burguière, E., Kerimoglu, C., Schreiter, S., Dannemann, M., et al. (2014). Humanized Foxp2 accelerates learning by enhancing transitions from declarative to procedural performance. Proc. Natl. Acad. Sci. U.S.A. 111, 14253-14258. doi: 10.1073/pnas.1414542111
43. Shukla, D. K., Keehn, B., Lincoln, A. J., and Müller, R. A. (2010). White matter compromise of callosal and subcortical fiber tracts in children with autism spectrum disorder: a diffusion tensor imaging study. J. Am. Acad. Child Adolesc. Psychiatry 49, 1269-1278. doi: 10.1016/j.jaac.2010.08.018
44. Suda, S., Iwata, K., Shimmura, C., Kameno, Y., Anitha, A., Thanseem, I., et al. (2011). Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism. Mol. Autism. 2:14. doi: 10.1186/2040-2392-2-14
45. Tager-Flusberg, H., Paul, R., and Lord, C. (2005). "Language and communication in autism," in Handbook of Autism and Pervasive Developmental Disorders, eds F. R. Volkmar, R. Paul, A. Klin, and D. Cohen (New York, NY: Wiley), 335-364.
46. Toro, R., Konyukh, M., Delorme, R., Leblond, C., Chaste, P., Fauchereau, F., et al. (2010). Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet. 26, 363-372. doi: 10.1016/j.tig.2010.05.007
47. Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., et al. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459, 528-533. doi: 10.1038/nature07999
48. Wang, R., Chen, C. C., Hara, E., Rivas, M. V., Roulhac, P. L., Howard, J. T., et al. (2015). Convergent differential regulation of SLIT-ROBO axon guidance genes in the brains of vocal learners. J. Comp. Neurol. 52, 892-906. doi: 10.1002/cne.23719
49. Yizhar, O., Fenno, L. E., Prigge, M., Schneider, F., Davidson, T. J., O'Shea, D. J., et al. (2011). Neocortical excitation/inhibition balance in information processing and social dysfunction. Nature 477, 171-178. doi: 10.1038/nature10360
50. Zikopoulos, B., and Barbas, H. (2013). Altered neural connectivity in excitatory and inhibitory cortical circuits in autism. Front. Hum. Neurosci. 7:609. doi: 10.3389/fnhum.2013.00609