İlk tanısı otizm olan bir becker musküler distrofisi olgusu

lk tanısı otizm olan bir becker musküler distrofisi olgusu Becker Musküler Distrofisi (BMD), kronik olarak ilerleyen kalıtsal bir kas hastalığıdır. Gelişimsel nöropsikiyatrik bir bozukluk olan otizmin kalıtsal kas hastalıklarında görülme sıklığının, toplumda genel görülme sıklığından daha yüksek olduğu bildirilmektedir. Bu yazıda, 20 aylık iken otizm tanısı alan ve 3 yaşında BMD tanısı konulan 4 yaş 3 aylık bir erkek olgu sunulmaktadır

A case report of becker’s musculer dystrophy presenting with autistic symptoms

Becker’s muscular dystrophy is a hereditary chronic progressive muscle disease. It is reported that the incidence of autism, a developmental neuropsychiatric disorder in the hereditary muscle diseases is higher than in the normal population. In this paper, a 4 years 3 months old male patient who was diagnosed with autistic symptoms when he was 20-months old and diagnosed with Becker’s muscular dystrophy when he was 3-years-old, is presented.

___

  • 1. Arahata K, Beggs AH, Honda H, Ito S, Ishiura S, Tsukahara T, Equchi C, Orimo S, Arikawa E, Kaido M, Nonaka I, Sugita H, Kunkel LM. Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci 1991; 101:148-156.
  • 2. Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kaariainen H, de la Chapelle A, Kiuru A, Savontaus ML, Gilgenkrantz H, Récan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gallati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LAJ, van Paassen HMB, van Ommen GJB, Kunkel LM . The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion. Am J Hum Genet 1989; 45:498-506.
  • 3. Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne muscular dystrophy. Brain 2002; 125:4-13.
  • 4. Mehler MF. Brain dystrophin, neurogenetics and mental retardation. Brain Res Brain Res Rev 2000; 32:277-307.
  • 5. Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: Full-scale, verbal and performance intelligence quotients. Dev Med Child Neurol 2001; 43:497-501.
  • 6. Hinton VJ, Fee R, DeVivo DC, Fee R, Goldstein E, Y Stern. Investigation of poor achievement in children with Duchenne muscular dystrophy. Learn Disabil Res Pract 2004; 19:146-154.
  • 7. Amerikan Psikiyatri Birliği. Metal Bozuklukların Tanısal ve Sayımsal El Kitabı, yeniden gözden geçirilmiş dördüncü baskı, (DSM-IV-TR). Köroğlu E (Çeviri Ed.) Ankara: Hekimler Yayın Birliği 1994, 43-68.
  • 8. Kanner L. Autistic disturbance in affective contact. Nervous Child 1943; 2:217-250.
  • 9. De Giacomo A, Fombonne E. Parental recognition developmental abnormalities in autism. Eur Child Adolsec Psychiatry 1998; 7:131-136.
  • 10. Gupta AR, State MW. Recent advances in the genetics of autism. Biol Psychiatry 2007; 61:429–437.
  • 11. Wu JY, Kuban KC, Allred E, Shapiro F, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol 2005; 20:790-795.
  • 12. Young HK, Barton BA, Waisbren S, Dale LP, Ryan MM, Webster RI, North KN. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol 2008; 23:155-162.
  • 13. Zwaigenbaum L, Tarnopolsky M. Two children with muscular dystrophies ascertained due to referral for diagnosis of autism. J Autism Dev Disord 2003; 33:193-199.
  • 14. Aşan İF, Türe S, Gökçay A, Karasoy H. Tuberoskleroz Kompleksi ve Otizm. Journal of Neurological Sciences -Turkish 2006; 23:312-317.
  • 15. Deborah D, Hatton, Wheeler A, Sideris J, Sullivan K, Reichardt A, Roberts J, Clark R, Bailey DB. Developmental Trajectories of Young Girls With Fragile X Syndrome. Am J Intellect and Dev Disabil 2009; 114:161-171.
  • 17. Yüksel A. Otizmin genetiği. Cerrahpaşa Tıp Dergisi 2005; 36:35- 41.
  • 18. Erbil N. Süperoksid dismutaz enzimini kodlayan gen (SOD2) ile otizm hastalığının ilişkisi. Yüksek Lisans Tezi, Kahramanmaraş Sütçü İmam Üniversitesi, Kahramanmaraş, 2008.
  • 19. Gillberg C, Coleman M. Autism and medical disorders: A review of the literature. Dev Med Child Neurol 1996; 38:191-202.
  • 20. Akcan B, Dündar NO, Oygucu S, Haspolat Ş, Öygür N. Ito hipomelanozis ve hemimegalensefali birlikteliği: Olgu sunumu. Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi 2009; 16:23-26.
  • 21. Bishop DV. Which neurodevelopmental disorders get researched and why? PLoS One 2010; 5:1-9.
  • 22. Güngör S, Yalnızoğlu D, Topçu M. Kortikal gelişimsel malformasyonlar. Çocuk Sağlığı ve Hastalıkları Dergisi 2007; 50:210-225.
  • 23. Hendriksen JG, Vles JS. Neuropsychiatric disorders in males with Duchenne muscular dystrophy: frequency rate of attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive--compulsive disorder. J Child Neurol 2008; 23:477-481.
  • 24. Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayraklı F, Arlier Z, Öztürk AK, Yalcınkaya C, Tuysuz B, State MW, Gunel M. A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin. Am J Med Genet A 2010; 152:1039-1042.
  • 25. Hodges L, Dibb B. Social comparison within self-help groups: views of parents of children with Duchenne muscular dystrophy. J Health Psychol 2010; 15:483-492.
  • 26. Billard C, Gillet P, Barthez M, Hommet C, Bertrantd P. Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy. Dev Med Child Neurol 1998; 40:12-20.
  • 27. Donders J, Taneja C. Neurobehavioral characteristics of children with Duchenne muscular dystrophy. Child Neuropsychol 2009; 15:295-304.
Düşünen Adam - Psikiyatri ve Nörolojik Bilimler Dergisi-Cover
  • ISSN: 1018-8681
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1984
  • Yayıncı: Kare Yayıncılık
Sayıdaki Diğer Makaleler

Suicidal behavior in adjustment disorder patients

ABDULLAH BOLU, Ali DORUK, Mehmet AK, Barbaros ÖZDEMİR, Fuat ÖZGEN

Exercise dependence and evaluations of psychopathological features

MEHMET ERDAL VARDAR, SELMA ARZU VARDAR, İLHAN TOKSÖZ, Necdet SÜT

Accuracy of wısc-r and raven standard progressive matrices tests in mathematical success of children with adhd

A. Şebnem SOYSAL ACAR, Seda TAN, Seçil ALDEMİR

Parkinson hastalığı ve delüzyonel parazitoz birlikteliği: Bir olgu sunumu

Emrullah GENÇ, SEMİHA GÜLSÜM KURT, Hatice ÜNALDI KARAER, Çam Feryal ÇELİKEL, Serap ERDOĞAN ÇİMEN

Mental control: How do adolescents protect their subjective well-being?

ALİ ERYILMAZ

Bir olgu sunumu eşliğinde rem uykusu davranış bozukluğuna bağlı suç işleme ve suçun adli psikiyatrik olarak değerlendirilmesi

F. Süheyla ALİUSTAOĞLU, Gökşen YÜKSEL, Sefa SAYGILI, Gökhan ORAL

Perindopril kullanımı sonrasında serum lityum düzeyinde yükselme: bir olgu bildirimi

Filiz ALKAN BAYLAN, Kürşat ALTINBAŞ

The reliability and validity study of psychological screening test for adolescents

Kültegin ÖGEL, Gülşah KARADAYI, Gülçin ŞENYUVA, Habil KANOĞLU

Pharmacopsychosocial treatment of opioid dependence: Harm reduction, palliation, or simply good medical practice?

Peter R. MARTİN, A.J. Reid FİNLAYSON

Detection of demografic and clinical risk factors associated with neuroleptic malignant syndrome: Evaluation of cases in the Turkish literature

Filiz ALKAN, Kürşat ALTINBAŞ