Seminars in Pediatric Neurology
Volume 15, Issue 4 , Pages 154-155 , December 2008

An Instructive Case of an 8-Year-Old Boy With Intellectual Disability

  • Myriam Srour, MD CM

      Affiliations

    • Department of Neurology/Neurosurgery, Montreal, Quebec, Canada
    • ,
  • Bassam A. Bejjani, MD

      Affiliations

    • Signature Genomic Laboratories, LLC, Spokane Washington, Sacred Heart Medical Center, Spokane, WA
    • ,
  • Emily A. Rorem, MSc

      Affiliations

    • Signature Genomic Laboratories, LLC, Spokane Washington, Sacred Heart Medical Center, Spokane, WA
    • ,
  • Nicholas Hall, BSc

      Affiliations

    • Department of Neurology/Neurosurgery, Montreal, Quebec, Canada
    • ,
  • Lisa G. Shaffer, PhD

      Affiliations

    • Signature Genomic Laboratories, LLC, Spokane Washington, Sacred Heart Medical Center, Spokane, WA
    • ,
  • Michael I. Shevell, MD CM

      Affiliations

    • Department of Neurology/Neurosurgery, Montreal, Quebec, Canada
    • Pediatrics, McGill University, Montreal, Quebec, Canada
    • Corresponding Author InformationAddress reprint requests to Michael Shevell, Room A-514, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec H3H 1P3, Canada

References 

  1. Shevell MI, Bejjani BA, Srour M, et al. Array comparative genomic hybridization in global developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2008;147:1101–1108
  2. Heald A, Anderson LV, Bushby KM, et al. Becker muscular dystrophy with onset after 60 years. Neurology. 1994;44:2388–2390
  3. Colomer J, Gallano P, Nicholson LV, et al. Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene. Eur J Pediatr. 1994;153:492–494
  4. Poyatos D, Coll MD, Guitart M, et al. Confirmation of Angelman syndrome in a boy previously reported as having Becker muscular dystrophy and severe mental retardation. Eur J Pediatr. 1999;158:1006
  5. Mehler MF. Brain dystrophin, neurogenetics and mental retardation. Brain Res Rev. 2000;32:277–307
  6. Lo IF, Lai KK, Tong TM, et al. Different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy. Chin Med J (Engl). 2006;119:1079–1087
  7. Giliberto F, Ferreiro V, Dalamon V, et al. Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy. Neurol Res. 2004;26:83–87
  8. Bardoni A, Felisari G, Sironi M, et al. Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies. Neuromuscul Disor. 2000;10:194–199
  9. Moxley RT, Ashwal S, Pandya S, et al. Practice parameter: Corticosteroid treatment of Duchenne dystrophy. Neurol. 2005;64:13–20

 Drs Bejjani and Shaffer are cofounders and board members and continue to own an equity interest in Signature Genomic Laboratories LLC. Emily Rorem is an employee of Signature Genomic Laboratories, LLC. The array Comparative Genomic Hybridization study in this report was undertaken by Signature Genomic Laboratories LLC. The other authors (Srour, Hall and Shevell) do not have any conflict of interest to report.

PII: S1071-9091(08)00069-7

doi: 10.1016/j.spen.2008.09.002

Seminars in Pediatric Neurology
Volume 15, Issue 4 , Pages 154-155 , December 2008

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