Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy

REFERENCES

• Ahn , A. H. and Kunkel , L. M. 1993 . The structural and functional diversity of dystrophin . Nature Genetics , 3 : 283 – 291 .
   PubMed Web of Science ®Google Scholar
• Anderson , J. L. , Head , S. I. , Rae , C. and Morley , J. W. 2002 . Brain function in Duchenne muscular dystrophy . Brain , 125 : 4 – 13 .
   PubMed Web of Science ®Google Scholar
• Billard , C. , Gillet , P. , Barthez , M. A. , Hommet , C. and Bertrand , P. 1998 . Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy . Developmental Medicine and Child Neurology , 40 : 12 – 20 .
   PubMed Web of Science ®Google Scholar
• Billard , C. , Gillet , P. , Signoret , J. L. , Uicaut , E. , Bertrand , P. Fardeau , M. 1992 . Cognitive functions in Duchenne Muscular Dystrophy: A reappraisal and comparison with spinal muscular atrophy . Neuromuscular Disorders , 2 : 371 – 378 .
   PubMed Web of Science ®Google Scholar
• Blake , D. and Kroeger , S. 2000 . The neurobiology of Duchenne muscular dystrophy: Learning lessons from muscle? . Trends in Neurosciences , 23 : 92 – 99 .
   PubMed Web of Science ®Google Scholar
• Breitenstein , C. , Jansen , A. , Deppe , M. , Foerster , A. F. , Sommer , J. Wolbers , T. 2005 . Hippocampus activity differentiates good from poor learners of a novel lexicon . NeuroImage , 25 : 958 – 968 .
   PubMed Web of Science ®Google Scholar
• Bresolin , N. , Castelli , E. , Comi , G. P. , Felisari , G. , Bardoni , A. Perani , D. 1994 . Cognitive impairment in Duchenne Muscular Dystrophy . Neuromuscular Disorders , 4 : 359 – 369 .
   PubMed Web of Science ®Google Scholar
• Bushby , K. , Finkel , R. , Birnkrant , D. J. , Case , L. E. , Clemens , P. R. Cripe , L. 2010 . Diagnosis and management of Duchenne Muscular Dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management . The Lancet Neurology , 9 : 77 – 93 .
   PubMed Web of Science ®Google Scholar
• Cheung , M. S. and Glorieux , F. H. 2008 . Osteogenesis Imperfecta: Update on presentation and management . Reviews in Endocrine and Metabolic Disorders , 9 : 153 – 160 .
   PubMed Web of Science ®Google Scholar
• Chilosi , A. M. and Cipriani , P. 1995 . Test di comprensione grammaticale per i bambini [Test of Grammatical comprehension for children] , Pisa , , Italy : Edizioni Del Cerro .
   Google Scholar
• Cornoldi , C. , Colpo , G. and Gruppo , M. T. 1986 . Prove di rapidità e correttezza nella lettura del gruppo MT [Test of speed and accuracy in text reading, developed by the MT group] , Firenze , , Italy : Organizzazioni Speciali .
   Google Scholar
• Cotton , S. , Voudouris , N. J. and Greenwood , K. M. 2001 . Intelligence and Duchenne Muscular Dystrophy: Full-scale, verbal, and performance intelligence quotients . Developmental Medicine and Child Neurology , 43 : 497 – 501 .
   PubMed Web of Science ®Google Scholar
• Cotton , S. M. , Voudouris , N. J. and Greenwood , K. M. 2005 . Association between intellectual functioning and age in children and young adults with Duchenne Muscular Dystrophy: Further results from a meta-analysis . Developmental Medicine and Child Neurology , 47 : 257 – 265 .
   PubMed Web of Science ®Google Scholar
• Cyrulnik , S. E. and Hinton , V. J. 2008 . Duchenne Muscular Dystrophy: A cerebellar disorder? . Neuroscience and Biobehavioral Reviews , 32 : 486 – 496 .
   PubMed Web of Science ®Google Scholar
• D'Angelo , M. G. , Lorusso , M. L. , Civati , F. , Comi , G. P. , Magri , F. Del Bo , R. 2011 . Neurocognitive profiles in Duchenne Muscular Dystrophy and gene mutation site . Pediatric Neurology , 45 : 292 – 299 .
   PubMed Web of Science ®Google Scholar
• D'Angiulli , A. and Siegel , L. S. 2003 . Cognitive functioning as measured by the WISC-R: Do children with learning disabilities have distinctive patterns of performance? . Journal of Learning Disabilities , 36 : 48 – 58 .
   PubMed Web of Science ®Google Scholar
• Daoud , F. , Angeard , N. , Demerre , B. , Martie , I. , Benyaou , R. Leturcq , F. 2009 . Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression . Human Molecular Genetics , 18 : 3779 – 3794 .
   PubMed Web of Science ®Google Scholar
• Daoud , F. , Candelario-Martínez , A. , Billard , J. M. , Avital , A. , Khelfaoui , M. Rozenvald , Y. 2008 . Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions . PLoS One , 4 : e6574
   PubMed Web of Science ®Google Scholar
• De Agostini , M. , Metz-Lutz , M. N. , Van Hout , A. , Chavance , M. , Deloche , G. Pavao-Martins , I. 1998 . Batterie d'évaluation du langage oral de l'enfant aphasique: Standardisation française (4–12 ans) [Oral language evaluation battery of aphasic children: a French standardization] . Revue de Neuropsychologie , 8 : 319 – 367 .
   Google Scholar
• Desmond , J. E. and Fiez , J. A. 1998 . Neuroimaging studies of the cerebellum: Language, learning and memory . Trends in Cognitive Sciences , 2 : 355 – 362 .
   PubMed Web of Science ®Google Scholar
• Dorman , C. , Hurley , A. D. and D'Avignon , J. 1988 . Language and learning disorders of older boys with Duchenne Muscular Dystrophy . Developmental Medicine and Child Neurology , 30 : 316 – 327 .
   PubMed Web of Science ®Google Scholar
• Dunn , L. M. , Dunn , L. M. , Whetton , C. and Pintilie , D. 1982 . British Picture Vocabulary Scale, Short Form , Berkshire , , United Kingdom : NFER-Nelson .
   Google Scholar
• Fabbro , F. 1999 . Neurolinguistica e neuropsicologia dei disturbi specifici del linguaggio nel bambino: Proposta di un esame del linguaggio [Neurolinguistics and neuropsychology of specific language disorders in children: Proposal of a linguistic assessment tool] . Saggi (XXV) , 1 : 11 – 23 .
   Google Scholar
• Fabbro, F. (2005). Batteria 4–12 [Battery 4–12]. http://www.sv.lnf.it/batterie_linguaggio/batteria%202005.pdf (http://www.sv.lnf.it/batterie_linguaggio/batteria%202005.pdf)
   Google Scholar
• Fabbro , F. and Galli , R. 2001 . Test dello Sviluppo Morfosintattico [Test of morphosyntactic development] , Milano , , Italy : Editore Ghedini Libraio .
   Google Scholar
• Felisari , G. , Martinelli Boneschi , F. , Bardoni , A. , Sironi , M. , Comi , G. P. Robotti , M. 2000 . Loss of Dp140 dystrophin and intellectual impairment in Duchenne dystrophy . Neurology , 55 : 559 – 564 .
   PubMed Web of Science ®Google Scholar
• Ferrari , E. , De Renzi , E. , Faglioni , P. and Barbieri , E. 1981 . Standardizzazione di una batteria per la valutazione dei disturbi del linguaggio nell'età scolare [Standardization of a battery for language assessment in school-age] . Neuropsichiatria Infantile , 235 : 148 – 158 .
   Google Scholar
• Griggs , R.C. and Bushby , K. 2005 . Continued need for caution in the diagnosis of Duchenne muscular dystrophy . Neurology , 64 : 1498 – 1499 .
   PubMed Web of Science ®Google Scholar
• Grunwald , T. , Beck , H. , Lehnertz , K. , Blumcke , I. , Pezer , N. Kurthen , M. 1999 . Evidence relating human verbal memory to hippocampal N-methyl-D- aspartate receptors . Proceedings of the National Academy of Science , 96 : 12085 – 12089 .
   PubMed Web of Science ®Google Scholar
• Hendriksen , J. G. M. and Vles , J. S. H. 2006 . Are males with Duchenne Muscular Dystrophy at risk for reading disabilities? . Pediatric Neurology , 34 : 296 – 300 .
   PubMed Web of Science ®Google Scholar
• Hendriksen , J. G. and Vles , J. S. 2008 . Neuropsychiatric disorders in males with Duchenne muscular dystrophy: Frequency rate of attention deficit hyperactivity disorder (ADHD), autism spectrum disorder and obsessive compulsive disorder . Journal of Child Neurology , 23 : 477 – 481 .
   PubMed Web of Science ®Google Scholar
• Hinton , V. J. , Cyrulnik , S. E. , Fee , R. J. , Batchelder , A. , Kiefel , J. M. Goldstein , E. M. 2009 . Association of autistic spectrum disorders with dystrophinopathies . Pediatric Neurology , 41 : 339 – 346 .
   PubMed Web of Science ®Google Scholar
• Hinton , V. J. , De Vivo , D. C. , Fee , R. , Goldstein , E. and Stern , Y. 2004 . Investigation of poor academic achievement in children with Duchenne Muscular Dystrophy . Learning Disabilities Research and Practice , 19 : 146 – 154 .
   PubMedGoogle Scholar
• Hinton , V. J. , De Vivo , D. C. , Nereo , N. E. , Goldstein , E. and Stern , Y. 2000 . Poor verbal working memory across intellectual level in boys with Duchenne dystrophy . Neurology , 54 : 2127 – 2132 .
   PubMed Web of Science ®Google Scholar
• Hinton , V. J. , De Vivo , D. C. , Nereo , N. E. , Goldstein , E. and Stern , Y. 2001 . Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne Muscular Dystrophy . Journal of the International Neuropsychological Society , 7 : 45 – 54 .
   PubMed Web of Science ®Google Scholar
• Hinton , V. J. , Fee , R. J. , Goldstein , E. M. and De Vivo , D. C. 2007 . Verbal and memory skills in males with Duchenne Muscular Dystrophy . Developmental Medicine and Child Neurology , 49 : 123 – 128 .
   PubMed Web of Science ®Google Scholar
• Jimenez , J. and Hernandez-Valle , I. 2000 . Word identification and reading disorders in the Spanish language . Journal of Learning Disabilities , 33 : 44 – 60 .
   PubMed Web of Science ®Google Scholar
• Justus , T. , Ravizza , S. M. , Fiez , J. A. and Ivry , R. B. 2005 . Reduced phonological similarity effects in patients with damage to the cerebellum . Brain & Language , 95 : 304 – 318 .
   PubMed Web of Science ®Google Scholar
• Kamakura , K. , Tadano , Y. , Kawai , M. , Ishiura , S. , Nakamura , R. Miyamoto , K. 1994 . Dystrophin-related protein is found in the central nervous system of mice at various developmental stages, especially at the postsynaptic membrane . Journal of Neuroscience Research , 37 : 728 – 734 .
   PubMed Web of Science ®Google Scholar
• Karagan , N. J. and Zellweger , H. U. 1978 . Early verbal disability in children with Duchenne Muscular Dystrophy . Developmental Medicine and Child Neurology , 20 : 435 – 441 .
   PubMed Web of Science ®Google Scholar
• Korkman , M. , Kirk , U. and Kemp , S. L. 1998 . NEPSY: A developmental neuropsychological assessment , San Antonio , TX : Psychological .
   Google Scholar
• Landerl , K. and Wimmer , H. 2000 . Deficits in phoneme segmentation are not the core problem in dyslexia: Evidence from English and German children . Applied Psycholinguistics , 21 : 243 – 263 .
   Web of Science ®Google Scholar
• Leibowitz , D. and Dubowitz , V. 1981 . Intellect and behavior in Duchenne Muscular Dystrophy . Developmental Medicine and Child Neurology , 23 : 577 – 590 .
   PubMed Web of Science ®Google Scholar
• Lidov , H. G. W. 1996 . Dystrophin in the nervous system . Brain Pathology , 6 : 63 – 77 .
   PubMed Web of Science ®Google Scholar
• Lidov , H. G. W. , Byers , T. J. , Watkins , S. G. and Kunkel , L. M. 1990 . Localisation of dystrophin to postsynaptic regions of central nervous system cortical neurons . Nature , 348 : 725 – 728 .
   PubMed Web of Science ®Google Scholar
• Lidov , H. G. , Selig , S. and Kunkel , L. M. 1995 . Dp140: A novel 140 kDa CNS transcript from the dystrophin locus . Human Molecular Genetics , 4 : 329 – 335 .
   PubMed Web of Science ®Google Scholar
• Lopez-Escribano , C. and Katzir , T. 2008 . Are phonological processes separate from the processes underlying naming speed in a shallow orthography? . Education & Psychology , 16 : 641 – 666 .
   Google Scholar
• Marini , A. , Lorusso , M. L. , D'Angelo , M. G. , Civati , F. , Turconi , A. C. Fabbro , F. 2007 . Evaluation of narrative abilities in patients suffering from Duchenne Muscular Dystrophy . Brain and Language , 102 : 1 – 12 .
   PubMed Web of Science ®Google Scholar
• Marvel , C. L. , Schwartz , B. L. and Isaacs , K. L. 2004 . Word production deficits in Schizophrenia . Brain and Language , 89 : 182 – 191 .
   PubMed Web of Science ®Google Scholar
• Mehler , M. F. , Haas , K. Z. , Kessler , J. A. and Stanton , P. K. 1992 . Enhanced sensitivity of hippocampal pyramidal neurons from mdx mice to hypoxia-induced loss of synaptic transmission . Proceedings of the National Academy of Science , 89 : 2461 – 2465 .
   PubMed Web of Science ®Google Scholar
• Moizard , M. P. , Billard , C. , Toutain , A. , Berret , F. , Marmin , N. and Moraine , C. 1998 . Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne Muscular Dystrophy? . American Journal of Medical Genetics , 80 : 32 – 41 .
   PubMed Web of Science ®Google Scholar
• Munsat , T. L. and Davies , K. E. 1992 . Meeting report: International SMA consortium meeting, Bonn, 1992 . Neuromuscular Disorders , 2 : 423 – 428 .
   PubMed Web of Science ®Google Scholar
• Muntoni , F. , Mateddu , A. and Serra , G. 1991 . Passive avoidance behaviour deficit in the mdx mouse . Neuromuscular Disorders , 1 : 121 – 123 .
   PubMedGoogle Scholar
• O'Reilly , R. C. and Norman , K. A. 2002 . Hippocampal and neocortical contributions to memory: Advances in the complementary learning systems framework . Trends in Cognitive Sciences , 6 : 505 – 510 .
   PubMed Web of Science ®Google Scholar
• Paulesu , E. , Demonet , J. F. , Fazio , F. , McCrory , E. , Chanoine , V. Brunswick , N. 2001 . Dyslexia: Cultural diversity and biological unity . Science , 291 : 2165 – 2167 .
   PubMed Web of Science ®Google Scholar
• Ravizza , S. M. , McCormick , C. A. , Schlerf , J. E. , Justus , T. , Ivry , R. B. and Fiez , J. A. 2006 . Cerebellar damage produces selective deficits in verbal working memory . Brain , 129 : 306 – 320 .
   PubMed Web of Science ®Google Scholar
• Reynolds , C. R. and Bigler , E. D. 1995 . TEMA: Test di Memoria e Apprendimento [Test Of Memory And Learning] , Italian , Trento , , Italy : Erickson .
   Google Scholar
• Riva , D. , Nichelli , F. and Devoti , M. 2000a . Una batteria di valutazione del linguaggio orale nel bambino afasico: normative italiane e considerazioni cliniche [Battery for language assessment in aphasic children: Italian standardization and clinical considerations] . Giornale di Neuropsichiatria dell'Età Evolutiva , 20 : 37 – 50 .
   Google Scholar
• Riva , D. , Nichelli , F. and Devoti , M. 2000b . Developmental aspects of verbal fluency and confrontation naming in children . Brain and Language , 71 : 267 – 284 .
   PubMed Web of Science ®Google Scholar
• Sartori , G. , Job , R. and Tressoldi , P. E. 1995 . Batteria per la valutazione della dislessia e della disortografia evolutiva , Firenze , , Italy : Giunti-O.S. Organizzazioni Speciali .
   Google Scholar
• Sesay , A. K. , Errington , M. L. , Levita , L. and Bliss , T. V. 1996 . Spatial learning and hippocampal long-term potentiation are not impaired in mdx mice . Neuroscience Letters , 211 : 207 – 210 .
   PubMed Web of Science ®Google Scholar
• Silveri , M. C. , Di Betta , A. M. , Filippini , V. , Leggio , M. G. and Molinari , M. 1998 . Verbal short-term store-rehearsal system and the cerebellum: Evidence from a patient with a right cerebellar lesion . Brain , 121 : 2175 – 2187 .
   PubMed Web of Science ®Google Scholar
• Sollee , N. D. , Latham , E. E. , Kindlon , D. J. and Bresnan , M. J. 1985 . Neuropsychological impairment in Duchenne Muscular Dystrophy . Journal of Clinical and Experimental Neuropsychology , 7 : 486 – 496 .
   PubMed Web of Science ®Google Scholar
• Vaillend , C. , Billard , J. M. and Laroche , S. 2004 . Impaired long-term spatial and recognition memory and enhanced CA1 hippocampal LTP in the dystrophin-deficient Dmd (mdx) mouse . Neurobiological Disorders , 17 : 10 – 20 .
   PubMed Web of Science ®Google Scholar
• Vaillend , C. and Ungerer , A. 1999 . Behavioral characterization of mdx3cv mice deficient in C-terminal dystrophins . Neuromuscular Disorders , 9 : 296 – 304 .
   PubMed Web of Science ®Google Scholar
• Vender , C. , Borgia , R. , Cumer Bruno , S. , Freo , P. and Zardini , G. 1981 . Un test di ripetizione di frasi: Analisi delle performances di bambini normali [A sentence repetition test: Analysis of performances in normal children] . Neuropsichiatria Infantile , 243 : 819 – 831 .
   Google Scholar
• Von Gontard , A. , Zerres , K. , Backes , M. , Laufersweiler-Plass , C. , Wendland , C. Melchers , P. 2002 . Intelligence and cognitive function in children and adolescents with spinal muscular atrophy . Neuromuscular Disorders , 12 : 130 – 136 .
   PubMed Web of Science ®Google Scholar
• Wechsler , D. 1993 . WISC-R: Scala d'intelligenza Wechsler per bambini riveduta [WISC-R: Wechsler Intelligence Scale for Children-Revised] , Firenze , , Italy : Organizzazioni Speciali .
   Google Scholar
• Wee , C. D. , Kong , L. and Sumner , C. J. 2010 . The genetics of spinal muscular atrophies . Current Opinion in Neurology , 23 : 450 – 458 .
   PubMed Web of Science ®Google Scholar
• Wicksell , R. K. , Kihlgren , M. , Melin , L. and Eeg-Olofsson , O. 2004 . Specific cognitive deficits are common in children with Duchenne Muscular Dystrophy . Developmental Medicine and Child Neurology , 46 : 154 – 159 .
   PubMed Web of Science ®Google Scholar
• Wingeier , K. , Giger , E. , Strozzi , S. , Kreis , R. , Joncourt , F. Conrad , B. 2011 . Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne Muscular Dystrophy . Journal of Clinical Neuroscience , 18 : 90 – 95 .
   PubMed Web of Science ®Google Scholar
• Worden , D. K. and Vignos , P. J. 1962 . Intellectual function in childhood progressive muscular dystrophy . Pediatrics , 29 : 968 – 977 .
   PubMed Web of Science ®Google Scholar