Results from several studies suggest that the process of language acquisition may be altered in patients suffering from Duchenne Muscular Dystrophy. In this study, a group of 8 male participants with Duchenne Muscular Dystrophy (M age = 16 yr., SD = 4.7) underwent an extensive neuropsychological and language assessment. They also performed a discourse production task. Results showed mild mental retardation associated with a specific deficit in Verbal rather than Performance IQ. At the linguistic assessment, 7 of 8 participants showed moderate to severe difficulties on oral language processing with particularly impaired morphosyntactic competence.
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References
1.
AhnA. H.KunkelL. M.The structural and functional diversity of dystrophin. Nature Genetics, 1993, 3, 283–291.
2.
AndersonJ. L.HeadS. I.RaeC.MorleyJ. W.Brain function in Duchenne muscular dystrophy. Brain, 2002, 125, 4–13.
3.
AndersonS. W.RouthD. K.IonanescuV. V.Serial position memory of boys with Duchenne muscular dystrophy. Developmental Medicine & Child Neurology, 1988, 30, 328–333.
4.
BardoniA.FelisariG.SironiM.ComiG.LaiM.RobottiM.BresolinN.Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies. Neuromuscular Disorders, 2000, 10, 194–199.
5.
BeggsA. D.KoenigM.BoyceF. M.KunkelL. M.Detection of 98% DMD BMD gene deletions by polimerase chain reaction. Neuromuscular Disorders, 1990, 86, 45–48.
6.
BillardC.GilletP.BarthezM. A.HommertC.BertrandP.Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy. Developmental Medicine & Child Neurology, 1998, 40, 12–20.
7.
BillardC.GilletP.SignoretJ. L.VicautE.BertrandP.FardeauM.Barthez-CarpentierM.SantiniJ. J.Cognitive functions in Duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy. Neuromuscular Disorders, 1992, 2, 371–378.
8.
BishopD. V. M.Uncommon understanding: Development and disorders of language comprehension in children.Hove, UK: Psychology Press, 1997.
9.
BishopD. V. M.Uncommon understanding—cerebellar abnormalities in developmental dyslexia: Cause, correlate or consequence?Cortex, 2002, 38, 479–490.
ChamberlainJ. S.GibbsR. A.RanierJ. E.NguyeP. N.CaskeyC. T.Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Research, 1988, 16, 11141–11156.
12.
ChironC.PintonF.MasureM. C.Hemispheric specialization using SPECT and stimulation tasks in children with dysphasia and dystrophia. Developmental Medicine & Child Neurology, 1999, 41, 512–520.
13.
ComiG. P.BresolinN.BardoniA.Absence of mental retardation in a large DMD gene deletion involving brain dystrophin promoter. Neurology, 1993, 43, 313.
14.
CottonS.VoudourisN. J.GreenwoodK. M.Intelligence and Duchenne muscular dystrophy: Full-scale, verbal, and performance intelligence quotients. Developmental Medicine & Child Neurology, 2001, 43, 497–501.
15.
CovoneA. E.CaroliF.RomeoG.Screening Duchenne and Baker Muscular Dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR. The American Journal of Human Genetics, 1992, 51, 675–677.
16.
DormanC.HurleyDesNoyers A.D'AvignonJ.Language and learning disorders of older boys with Duchenne muscular dystrophy. Developmental Medicine & Child Neurology, 1988, 30, 316–327.
17.
DuchenneG. B.Recherches sur la paralysie musculaire pseudohypertrophique ou paralysie myosclerosique. Archive of General Medicine, 1868, 11, 5–25.
18.
EckertM. A.LeonardC. M.RichardsT. L.AylwardE. H.ThomsonJ.BerningerV. W.Anatomical correlates of dyslexia: Frontal and cerebellar findings. Brain, 2003, 126, 482–494.
FabbroF.Introduction to language and cerebellum. Journal of Neurolinguistics, 2000, 13, 83–94.
21.
HabibM.The neurological basis of developmental dyslexia: An overview and working hypothesis. Brain, 2000, 123, 2373–2399.
22.
HaravonA.OblerL.SarnoM.A method for microanalysis of discourse in brain-damaged patients. In BloomR.OblerL.De SantiS.EhrlichJ. (Eds.), Discourse analysis and applications: Studies in adult clinical populations.Hillsdale, NJ: Erlbaum, 1994. Pp. 47–80.
23.
HintonV. J.DeVivoD. C.NereoN. E.GoldsteinE.SternY.Poor verbal working memory across intellectual level in boys with Duchenne dystrophy. Neurology, 2000, 54, 2127–2132.
24.
JennekensF. G.Ten KateL. P.de VisserM.WintzenA. R.Duchenne and Becker muscular dystrophies. In EmeryA. E. H. (Ed.), Diagnostic criteria for neuromuscular disorders.Baarn, The Netherlands: European Neuromuscular Centre, 1994. Pp. 9–13.
25.
JungD.FilliolD.Metz-BoutigueM. H.RendonA.Characterization and subcellular localization of the dystrophin-protein 71 (Dp71) from the brain. Neuromuscular Disorders, 1993, 3, 515–518.
26.
KaraganN. J.RichmanL. C.SorensenJ. P.Analysis of verbal disability in Duchenne muscular dystrophy. The Journal of Nervous and Mental Disease, 1980, 168, 419–423.
27.
KoeningM.HoffmanE. P.BertelsonC. J.MonacoA. P.FeenerC.KunkelL. M.Complete cloning of the Duchenne muscular dystrophy (DMD) DNA and preliminary genomic organisation of the DMD gene in normal and affected individuals. Cell, 1987, 50, 509–517.
28.
KunkelL. M.SmithK. D.BoyerS. H.Analysis of human chromosome specific reiterated DNA in chromosome variants. Proceedings of the National Academy of Sciences USA, 1977, 74, 1245–1249.
29.
LambertM.ChaffyP.HugnotJ. P.KoulakoffA.Berwald-NetterY.BillardC.MorrisG. E.KahnA.KaplanJ. C.GilgenkrantzH.Expression of the transcripts initiated in the 62nd intron of the dystrophin gene. Neuromuscular Disorders, 1993, 3, 519–524.
30.
LeeJ. S.ZoltanP.CsabaJ.Altered regional brain glucose metabolism in Duchenne Muscular Dystrophy: A PET study. Muscle and Nerve, 2002, 26, 506–512.
31.
LeibowitzD.DubowitzV.Intellect and behavior in DMD. Developmental Medicine & Child Neurology, 1981, 23, 577–590.
32.
MariniA.BoeweA.CaltagironeC.CarlomagnoS.Assessment of age-related differences in the processing of textual descriptions. Journal of Psycholinguistic Research, 2005, 34(5), 439–463.
33.
MoizardM. P.BillardC.ToutainA.BerretF.MarminN.MoraineC.Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?American Journal of Medical Genetics, 1998, 80, 32–41.
34.
MorettiR.BavaA.TorreP.AntonelloR. M.CazzatoG.Reading errors in patients with cerebellar vermis lesions. Journal of Neurology, 2002, 249, 461–468.
35.
MorettiR.BavaA.TorreP.AntonelloR. M.UkmarM.LongoR.CazzatoG.BavaA.Complex distal movement in cortical-basal gaglionic degeneration: A functional evaluation. Functional Neurology, 2002, 17, 71–76.
36.
MorettiR.TorreP.AntonelloR. M.CapusL.GioulisM.MarsalaS.CazzatoG.BavaA.Effects on cognitive abilities following subthalamic nucleus stimulation in Parkinson's disease. European Journal of Neurology, 2001, 8, 726–727.
37.
MorettiR.TorreP.AntonelloR. M.CapusL.GioulisM.MarsalaS. Z.CazzatoG.BavaA.Cognitive changes following subthalamic nucleus stimulation in two patients with Parkinson disease. Perceptual and Motor Skills, 2002, 95, 477–486.
38.
MorettiR.TorreP.AntonelloR. M.CapusL.MarsalaS. Z.CattaruzzaT.CazzatoG.BavaA.Neuropsychological changes after subthalamic nucleus stimulation: A 12 month follow-up in nine patients with Parkinson's disease. Parkinsonism and Related Disorders, 2003, 10, 73–79.
39.
MorettiR.TorreP.AntonelloR. M.CarraroN.CazzatoG.BavaA.Complex cognitive disruption in motor neuron disease. Dementia and Geriatric Cognitive Disorders, 2002, 14, 141–150.
40.
MorettiR.TorreP.AntonelloR. M.CarraroN.Zambito-MarsalaS.UkmarM.CapusL.GioulisM.CazzatoG.BavaA.Peculiar aspects of reading and writing performance in patients with olivopontocerebellar atrophy. Perceptual and Motor Skills, 2002, 94, 667–694.
41.
MorettiR.TorreP.AntonelloR. M.De MasiR.CazzatoG.Complex cognitive disruption in frontal dementia related to motor neuron disease. Perceptual and Motor Skills, 2001, 92, 1213–1229.
42.
MuntoniF.TorelliS.FerliniA.Dystrophin and mutations: One gene, several proteins, multiple phenotypes. The Lancet Neurology, 2003, 2, 731–740.
43.
NicholsonL. V. B.DavisonK.FalkousG.Dystrophin in skeletal muscle: II. Immunore-activity in patients with Xp21 muscular dystrophy. Journal of the Neurological Sciences, 1989, 94, 137–146.
44.
NicholsonL. V. B.JohnsonM. A.BushbyK. M. D.Gardner-MedwinD.CurtisA.GinjaarI. B.DunnenJ. T.WelchJ. L.ButlerT. J.BakkerE.Van OmmenG. J. B.HarrisJ. B.Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data: Part 2. Correlations with individual patients. Journal of Medical Genetics, 1993, 30, 737–744.
45.
ParadisM.The assessment of bilingual aphasia.Hillsdale, NJ: Erlbaum, 1987.
46.
ParadisM.A neurolinguistic theory of bilingualism.Philadelphia, PA: John Benjamins, 2004.
47.
RapaportD.BuenoPassos M. R.BrandaoL.LoveD.VainzofM.ZatzM.Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. American Journal of Medical Genetics, 1991, 39, 437–441.
48.
ShewanC. M.The Shewan Spontaneous Language Analysis System for aphasic adults: Description, reliability and validity. Journal of Communication Disorders, 1988, 103–138.
49.
SolleeN. D.LathamE. E.KindlonD. J.BresnanM. J.Neuropsychological impairment in Duchenne muscular dystrophy. Journal of Clinical and Experimental Neuropsychology, 1985, 7, 486–496.
50.
StemmerB.WhitakerH. A.Handbook of neurolinguistics.San Diego, CA: Academic Press, 1998.
51.
TavanoA.De FabritiisP.FabbroF.Contributo alla valutazione standardizzata dell'eloquio narrativo nei bambini. Giornale di Neuropsichiatria dell'Età Evolutiva, 2005, 25, 1–16.
52.
VellutinoF. R.Dyslexia: Theory and research.Cambridge, MA: The MIT Press, 1980.
53.
WechslerD.WAIS: Scala d'intelligenza Wechsler per adulti.Firenze, Italy: Organizzazioni Speciali, 1989.
ZivadinovR.SepcicJ.NasuelliD.De MasiR.BragadinL.TommasiM. A.Zambito-MarsalaS.MorettiR.BratinaA.UkmarM.Pozzi-MucelliR. S.GropA.CazzatoG.ZorzonM.A longitudinal study of brain atrophy and cognitive disturbances in the early phase of relapsing-remitting multiple sclerosis. Journal of Neurology, Neurosurgery and Psychiatry, 2001, 70, 773–780.
