Click here to download

The profile of cognitive neuropsychological deficits of Duchenne Muscular Dystrophy: a controlled empirical study and its psychotherapeutic implications
Journal Title: QUADERNI DI PSICOTERAPIA COGNITIVA 
Author/s: Florindo Sacchi, Eugenio Mercuri, Marika Pane, Daniela Chieffo, Benedetto Farina 
Year:  2018 Issue: 43 Language: Italian 
Pages:  16 Pg. 40-55 FullText PDF:  60 KB
DOI:  10.3280/QPC2018-043003
(DOI is like a bar code for intellectual property: to have more infomation:  clicca qui   and here 


Our study aimed to describe the cognitive neuropsychological profile in children with Duchenne Muscular Dystrophy (DMD), particularly those with cognitive deficits in charge of attention, memory, executive functions, visuospatial abilities, and language. It’s shared opinion that these deficiencies were due to generic mental retardation; to refute this belief, patients with an average IQ of 93.9 and a control group were selected. In both groups, specific development tests were used: BVL_4-12, VMI, VAUMeLF, PV, the Bells Test, WPPSI III, and the Griffiths Scales. Comparing the groups, it was found that children with DMD had deficits in the repetition of sentences, words and not words, in articulation and attentional tasks. The study examined preschool children (4-5 years), as few scientific studies deal with Duchenne Muscular Dystrophy in children in developmental age, preferring the study of pubertal or adolescent subjects. The goal to which we aspire is to arrive at a quick and correct diagnosis. Nowadays, only steroid therapy is optimal, and although it slows down the course of the illness, it does not allow to restore the lost and compromised functions. The psychological and psychotherapeutic aspect is important and therefore not to be underestimated, it will work not only on the individual, but also on family dynamics, thus favoring the serene acceptance of the illness and its consequences, and therefore assisting with health treatment.
Keywords: Duchenne Muscular Dystrophy, preschool age, cognitive deficit, combined treatment, early diagnosis.

  1. Nereo N.E., Fee R.J., Hinton V.J. (2003). Parental stress in mothers of boys with duchenne muscular dystrophy. Journal of Pediatric Psychology, 28(7): 473-84.
  2. Mohamed K., Appleton R., Nicolaides P. (2000). Delayed diagnosis of Duchenne muscolar distrophy. European Journal of Paediatric Neurology, 4: 219-223.
  3. Pane M., Bianco F., Vasco G., Mercuri E. (2011). Future prospects for Duchenne Muscular Dystrophy. Gior. Neuropsich. Età Evol., 31: 25-28., DOI: 10.15557/AN.2017.001
  4. Angelini C. (2007). The role of corticosteroids in muscular dystrophy: a critical appraisal. Muscle & Nerve, 36: 424-35.
  5. Beery K., Buktenica N. (1967). VMI – Developmental test of Visual Motor Integration. Firenze: Giunti O.S.
  6. Bertelli B., Bilancia G. (2006). Batterie per la Valutazione dell’Attenzione Uditiva e della Memoria di Lavoro Fonologica nell’Età Evolutiva. Firenze: Giunti O.S.
  7. Biancardi A., Stoppa E. (1997). Il Test delle Campanelle modificato: una proposta per lo studio dell’attenzione in età evolutiva. Psichiatria dell’Infanzia e dell’Adolescenza, 64(1): 73-84.
  8. Birnkrant D.J., Bushby K., Bann C.M., Apkon S.D., Blackwell A., Colvin M.K., Cripe L., Herron A.R, Kennedy A., Kinnett K., Naprawa J., Noritz G., Poysky J., Street N., Trout C.J., Weber D.R., Ward L.M. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol., 17(5): 445-455., DOI: 10.1016/S1474-4422(18)30026-
  9. Blake D.J., Kröger S. (2000). The neurobiology of duchenne muscular dystrophy: learning lessons from muscle? Trends in Neurosciences, 23: 92-9.
  10. Chieffo D., Brogna C., Berardinelli A., D’Angelo G., Mallardi M., D’Amico A., Alfieri P., Mercuri E., Pane M. (2015). Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study. PLOS ONE, 10(8).
  11. Colvin M.K., Poysky J., Kinnett K., Damiani M., Gibbons M., Hoskin J., Moreland S.,Trout C.J., Weidner N. (2018). Psychosocial Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics, 142(Suppl 2): S99-S109.
  12. Cyrulnik S.E., Fee J.R., De Vivo D.C., Goldstein E., Hinton J.V. (2007). Delayed Developmental Language Milestones in Children with Duchenne’s Muscular Dystrophy. The Journal of Pediatrics, 150(5): 474-478.
  13. Cyrulnik S.E., Fee R.J., Batchelder A., Kiefel J., Goldstein E., Hinton V.J. (2008). Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD). Journal of the International Neuropsychological Society, 14: 853-861., DOI: 10.1017/S135561770808106
  14. D’Angelo M.G., Lorusso M.L., Civati F., Comi G.P., Magri F., Del Bo R., Guglieri M., Molteni M., Turconi A.C., Bresolin N. (2011). Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site. Pediatric Neurology, 45(5): 292-9.
  15. de Valle K.L., Davidson Z.E., Kennedy R.A., Ryan M.M., Carroll K.M. (2016). Physical activity and the use of standard and complementary therapies in Duchenne and Becker muscular dystrophies. Journal of Pediatric Rehabilitation Medicine: An Interdisciplinary Approach, 9: 55-63., DOI: 10.3233/PRM-16036
  16. Emery A.E. (2002). The muscular dystrophies. Lancet, 359: 687-695., DOI: 10.1016/S0140-6736(02)07815-
  17. Ferri L. (2015). Cerebellum and language: speech therapy intervention to treat their disorders. Revista de Neurologia, 60(1): 57-62.
  18. Garon N., Bryson S.E., Smith I.M. (2008). Executive function in preschoolers: a review using an integrative framework. Psychological Bulletin, 134(1): 31-60., DOI: 10.1037/0033-2909.134.1.3
  19. Hendriksen J.G., 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(5): 477-81., DOI: 10.1177/088307380730977
  20. Hendriksen J.G., Klinkenberg S., Collin P., Wong B., Niks E.H., Vles J.S. (2016). Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: A case report. Neuromuscul Disord., 26(10): 659-661.
  21. Hoskin J., Maresh K., Muntoni F., Hinton V., Abbot L., Selby V., Poysky J., Schonfeld D., Catlin N., Barry C., Hastie J., Chapman M. (2017). A Guide to Du-chenne Muscular Dystrophy: Information and Advice for Teachers and Parents. Philadelphia: Jessica Kingsley Publishers.
  22. Lehmann A., Speight B.S., Kerzin-Storrar L. (2011). Extended family impact of genetic testing: the experiences of X-linked carrier grandmothers. J. Genet.Couns., 20(4): 365-373.
  23. Marini A., Marotta L., Bulgheroni S., Fabbro F. (2015). Batteria per la Valutazione del Linguaggio in Bambini dai 4 ai 12 anni, BVL-4_12. Firenze: Giunti O.S.
  24. Mehler M.F. (2000). Brain dystrophin, neurogenetics and mental retardation. Brain Research Reviews, 32: 277-307.
  25. Mento G., Tarantino V., Bisiacchi P.S. (2011). The Neuropsychological Profile of Infantile Duchenne Muscular Dystrophy. The Clinical Neuropsychologist, 25(8): 1359-1377., DOI: 10.1080/13854046.2011.61778
  26. Miller G., Wessel H.B. (1993). Diagnosis of dystrophino pathies: Review for the clinician. Pediatric Neurology, 9: 3-9.
  27. Pane M., Lombardo M.E., Alfieri P., D’Amico A., Bianco F., Mercuri E. (2012). Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation. The Journal of Pediatrics, 161(4): 705-709.
  28. Pane M., Scalise R., Berardinelli A., D’Angelo G., Ricotti V., Alfieri P., Moroni I., Hartley L., Pera M.C., Baranello G., Catteruccia M., Casalino T., Romeo D.M., Graziano A., Gandioli C., Bianco F., Mazzone E.S., Lombardo M.E., Scoto M., Sivo S., Palermo C., Gualandi F., Sormani M.P., Ferlini A., Bertini E., Muntoni F., Mercuri E. (2013). Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscular Disorders, 23(6): 451-5.
  29. Peay H.L., Meiser B., Kinnett K., Furlong P., Porter K., Tibben A. (2016). Mothers’ psychological adaptation to Duchenne/Becker muscular dystrophy. Eur. J. Hum. Genet., 24(5): 633-7.
  30. Plumridge G., Metcalfe A., Coad J., Gill P. (2010). Family communication about genetic risk information: particular issues for Duchenne muscular dystrophy. Am. J. Med. Genet. A, 152A(5): 1225-1232.
  31. Ricotti V., Roberts R.G., Muntoni F. (2011). Dystrophin and the brain. Developmental Medicine and Child Neurology, 53(1): 12.
  32. Shieh P.B. (2018). Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy. Neurotherapeutics, 15(4): 840-848.
  33. Snow M., Anderson J.E., Jaskobson L.S. (2013). Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy: a review. Neuroscience e Biobehavioral Reviews, 37(5): 743-752.
  34. Steele M., Taylor E., Young C., McGrath P., Lyttle B.D., Davidson B. (2008). Mental health of children and adolescents with Duchenne muscular dystrophy. Developmental Medicine and Child Neurology, 50(8): 638-639.
  35. Vicari S., Piccini G., Mercuri E., Battini R., Chieffo D., Bulgheroni S., Pecini C., Lucibello S., Lenzi S., Moriconi F., Pane M., D’Amico A., Astrea G., Baranello G., Riva D., Cioni G., Alfieri P. (2018). Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? PLOS ONE, 13(1): 0191164.
  36. Wechsler D. (2008). Wechsler Preschool and Primary Scale of Intelligence – III. Firenze: Giunti O.S.
  37. Wicksell R.L., Kihlgren M., Melin L. (2004). Specific cognitive deficits are common in children with Duchenne muscular dystrophy. Developmental Medicine & Child Neurology, 46(3): 154-159.
  38. Wingeier K., Giger E., Strozzi S., Kreis R., Joncourt F., Conrad B., Gallati S., Steinlin M. (2011). Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy. Journal of Clinical Neuroscience, 90-95.

Florindo Sacchi, Eugenio Mercuri, Marika Pane, Daniela Chieffo, Benedetto Farina, The profile of cognitive neuropsychological deficits of Duchenne Muscular Dystrophy: a controlled empirical study and its psychotherapeutic implications in "QUADERNI DI PSICOTERAPIA COGNITIVA" 43/2018, pp. 40-55, DOI:10.3280/QPC2018-043003

   

FrancoAngeli is a member of Publishers International Linking Association a not for profit orgasnization wich runs the CrossRef service, enabing links to and from online scholarly content