Epilepsy and neurodevelopmental disorders of language

被引:26
作者
Pal, Deb K. [1 ,2 ]
机构
[1] Kings Coll London, Inst Psychiat, Dept Clin Neurosci, London SE5 8AF, England
[2] Columbia Univ, Dept Psychiat, Div Epidemiol, Med Ctr, New York, NY USA
关键词
comorbidity; connectivity; copy number variant; dyspraxia; pleiotropy; speech; CENTROTEMPORAL SHARP WAVES; OF-THE-LITERATURE; ROLANDIC EPILEPSY; SEVERE SPEECH; IMPAIRMENT; CHILDREN; AUTISM; EEG; MICRODELETION; RETARDATION;
D O I
10.1097/WCO.0b013e328344634a
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Purpose of review Neurodevelopmental disorders of language are increasingly appreciated as part of the phenotype of childhood-onset epilepsy. Here I review studies of the prevalence and prognosis of language impairment in new-onset childhood epilepsy and provide an update of new genetic discoveries that shed light on molecular pathways common to epilepsy and language impairment. Recent findings Three recent papers describe the cognitive and language phenotype of children with new-onset epilepsy and their discrepancy with controls over a 2-3-year period of follow-up. A new study examines the question of pleiotropic effects acting on both electro-encephalographic (EEG) abnormalities and speech sound disorder in rolandic epilepsy families - another study questions the rationale for EEG recording in patients with specific language impairment (SLI) - whereas two studies examine the effect of anti-epileptic drug treatment on speech and language. Two MRI studies indicate the neural basis for language impairment in epilepsy. Three new copy number variant hotspots are reported linking epilepsy and speech or language impairment; and the links between two known genes for developmental verbal dyspraxia, FOXP2 and SRPX2, begin to be elucidated. Summary Comprehensive neuropsychological and speech pathology assessment need to be factored into the initial evaluation and continued monitoring of children with new-onset epilepsy. EEG recording remains of unknown utility in children with SLI or speech sound disorder (SSD) who do not have epilepsy. Some anti-epileptic drugs may worsen SSD. As the molecular pathways for speech continue to be elucidated, future genetic imaging studies will show how genetic variants map onto to altered structural and connectivity patterns, which could be used as biomarkers for interventions.
引用
收藏
页码:126 / 131
页数:6
相关论文
共 38 条
  • [31] Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
    Strug, Lisa J.
    Clarke, Tara
    Chiang, Theodore
    Chien, Minchen
    Baskurt, Zeynep
    Li, Weili
    Dorfman, Ruslan
    Bali, Bhavna
    Wirrell, Elaine
    Kugler, Steven L.
    Mandelbaum, David E.
    Wolf, Steven M.
    McGoldrick, Patricia
    Hardison, Huntley
    Novotny, Edward J.
    Ju, Jingyue
    Greenberg, David A.
    Russo, James J.
    Pal, Deb K.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (09) : 1171 - 1181
  • [32] The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
    van Bon, Bregje W. M.
    Koolen, David A.
    Brueton, Louise
    McMullan, Dominic
    Lichtenbelt, Klaske D.
    Ades, Lesley C.
    Peters, Gregory
    Gibson, Kate
    Novara, Francesca
    Pramparo, Tiziano
    Dalla Bernardina, Bernardo
    Zoccante, Leonardo
    Balottin, Umberto
    Piazza, Fausta
    Pecile, Vanna
    Gasparini, Paolo
    Guerci, Veronica
    Kets, Marleen
    Pfundt, Rolph
    de Brouwer, Arjan P.
    Veltman, Joris A.
    de Leeuw, Nicole
    Wilson, Meredith
    Antony, Jayne
    Reitano, Santina
    Luciano, Daniela
    Fichera, Marco
    Romano, Corrado
    Brunner, Han G.
    Zuffardi, Orsetta
    de Vries, Bert B. A.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (02) : 163 - 170
  • [33] A Functional Genetic Link between Distinct Developmental Language Disorders
    Vernes, Sonja C.
    Newbury, Dianne F.
    Abrahams, Brett S.
    Winchester, Laura
    Nicod, Jerome
    Groszer, Matthias
    Alarcon, Maricela
    Oliver, Peter L.
    Davies, Kay E.
    Geschwind, Daniel H.
    Monaco, Anthony P.
    Fisher, Simon E.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2008, 359 (22) : 2337 - 2345
  • [34] Functional connectivity and language impairment in cryptogenic localization-related epilepsy
    Vlooswijk, M. C. G.
    Jansen, J. F. A.
    Majoie, H. J. M.
    Hofman, P. A. M.
    de Krom, M. C. T. F. M.
    Aldenkamp, A. P.
    Backes, W. H.
    [J]. NEUROLOGY, 2010, 75 (05) : 395 - 402
  • [35] Association between microdeletion and microduplication at 16p11.2 and autism
    Weiss, Lauren A.
    Shen, Yiping
    Korn, Joshua M.
    Arking, Dan E.
    Miller, David T.
    Fossdal, Ragnheidur
    Saemundsen, Evald
    Stefansson, Hreinn
    Ferreira, Manuel A. R.
    Green, Todd
    Platt, Orah S.
    Ruderfer, Douglas M.
    Walsh, Christopher A.
    Altshuler, David
    Chakravarti, Aravinda
    Tanzi, Rudolph E.
    Stefansson, Kari
    Santangelo, Susan L.
    Gusella, James F.
    Sklar, Pamela
    Wu, Bai-Lin
    Daly, Mark J.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (07) : 667 - 675
  • [36] Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
    Williams, Stephen R.
    Mullegama, Sureni V.
    Rosenfeld, Jill A.
    Dagli, Aditi I.
    Hatchwell, Eli
    Allen, William P.
    Williams, Charles A.
    Elsea, Sarah H.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (04) : 436 - 441
  • [37] YUN M, 2010, BRAIN DEV
  • [38] CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
    Zweier, Christiane
    de Jong, Eiko K.
    Zweier, Markus
    Orrico, Alfredo
    Ousager, Lilian B.
    Collins, Amanda L.
    Bijlsma, Emilia K.
    Oortveld, Merel A. W.
    Ekici, Arif B.
    Reis, Andre
    Schenck, Annette
    Rauch, Anita
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (05) : 655 - 666