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Autism in Moebius Syndrome: Comorbidity or a Coincidental State?

Yıl 2010, Cilt: 2 Sayı: 3, 308 - 317, 01.09.2010

Öz

Pervasive developmental disorders are neuropsychiatric disorders that start in early years of life, last lifelong, and characterized by delay and abnormality in social relationship, communication, behavior and cognitive development. Moebius syndrome is a clinical condition characterized by unilateral or bilateral eye-face palsy associated with muscle or bone malformations in the upper or lower limbs. Most accepted clinical criteria to characterize the sequence are the involvement of the VI and VII cranial nerves. Though some authors suggest a causal relationship between autism and some medical conditions, to draw such result is quite complicated and difficult. Case reports and articles draw attention to the comorbidity of autism in Moebius syndrome. Despite arguments favoring a strong relationship between autism and Moebius syndrome, some questions about this relationship are still left unanswered and controversial. There are some research findings suggesting higher prevalence of autism among patients with Moebius syndrome, however some others did not report an increase in autism prevalence in Moebius syndrome. Clinical features of Moebius syndrome comprise difficulties in making diagnosis of autism. Long term follow-up of larger number of cases are necessary to understand whether the presence of both autism and Moebius syndrome in a patient represents comorbidity or only a coincidental condition.

Kaynakça

  • American Psychiatric Association: Dignostic and Statistical Manual of Mental Disorders (DSM-IV-TR). Washington DC, American Psychiatric Association, 2000.
  • Lamb JA, Parr JR, Bailey AJ, Monaco AP. Autism: in search of susceptibility genes. Neuromolecular Med 2002; 2:11-28.
  • Gillberg C, Coleman M. Autism and medical disorders: a review of the literature. Med Child Neurol 1996; 38:191-202.
  • Rutter M, Bailey A, Bolton P, Le Couter A. Autism and known medical conditions: myth and substance. J Child Psychol Psychiatry 1994; 35:311-322.
  • Bandim JM, Ventura LO, Miller MT Almeida HC, Santos Costa AE. Autism and Moebius sequence. An exploratory study of children in northeastern Brazil. Arq Neuropsiquiatr 2003; 61:181-185.
  • Johansson M, Wentz E, Fernell E, Strömland K, Miller MT, Gillberg C. Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals. Dev Med Child Neurol 2001; 43:338-345.
  • Briegel W. Neuropsychiatric findings of Mobius sequence. A review. Clin Genet 2006; 70: 91-97.
  • Verzijl HTFM, van der Zwaag B, Cruysberg JRM, Padberg GW. Mobius syndrome redefined. A syndrome of rhombencephalic maldevelopment. Neurology 2003; 61:327-333.
  • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics No.42). New York, Oxford University Press, 2001.
  • Kumar D. Moebius syndrome. J Med Genet 1990; 27:122-126.
  • Gonzalez CH, Vargas FR, Perez AB, Kim CA, Brunoni D, Marques-Dias MJ et al. Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy. Am J Med Genet 1993; 47:59-64.
  • Pastuszak AL, Schüler L, Speck-Martins CE, Coelho KE, Cordello SM, Vargas F et al. Use of misoprostol during pregnancy and Möbius' syndrome in infants. N Engl J Med 1998; 338:1881-1885.
  • Graf WD, Shepard TH. Uterine contraction in the development of Möbius syndrome. Child Neurol 1997; 12:225-227.
  • Firth, HV, Boyd PA, Chamberlain, P, MacKenzie IK, Lindenbaum RH, Huson SM. Seve- re limb abnormalities after chorionic villus sampling at 56–66 days’ gestation. Lancet 1991; 337:762-763.
  • Courtens W, Vamos E, Hainaut M, Vergauwen P. Moebius syndrome in an infant exposed in utero to benzodiazepines. J Pediatr 1992; 121:833-834.
  • Traboulsi E. Congenital abnormalities of cranial nerve development: Overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movement. Trans Am Ophthalmol Soc 2004; 102:373-389.
  • Rizos M, Negrón R, Serman N. Möbius syndrome with dental involvement: A case report and literature review. Cleft Palate Craniofac J 1998; 35:262-268.
  • Rodier PM, Ingram JL, Tisdale B, Nelson S, Romano J. Embriology origin for autism: developmental anomalies of cranial nerve motor nuclei. J Comp Neurol 1996; 370:247-261.
  • Hashimoto T, Tayama M, Murakawa K, Yoshimoto T, Miyazaki M, Harada M et al. Development of the brainstem and cerebellum in autistic patients. J Autism Dev Disord 1995; 25:1-18.
  • Gillberg C, Winnergard I. Childhood psychosis in a child with Moebius syndrome. Neuropediatrics 1984; 15:147-149.
  • Larrandaburu M, Schuler L, Ehlers JA, Reis AM, Silveira EL. The occurrence of Poland and Poland-Moebius syndromes in the same family: further evidence of a genetic component. Clin Dysmorphol 1999; 8:93-99.
  • Ornitz EM. The functional neuroanatomy of infantile autism. Int J Neurosci 1983; 19:85-124.
  • Gillberg C, Steffenburg S. Autistic behaviour in Moebius syndrome. Acta Paediatr Scand 1989; 99:399-406.
  • Miller M, Strömland K. The Möbius sequence: a relook. J AAPOS 1999; 3:199-208.
  • Leong S, Ashwell KW. Is there a zone of vascular vulnerability in the fetal, brain stem? Neurotoxicol Teratol 1997; 19:265-275.
  • Briegel W, Schimek M, Kamp-Becker I, Hofmann C, Schwab KO. Autism spectrum disorders in children and adolescents with Moebius sequence. Eur Child Adolesc Psychiatry 2009; 18:515-519.

Möbius Sendromunda Otizm: Eştanı mı, Rastlantı mı?

Yıl 2010, Cilt: 2 Sayı: 3, 308 - 317, 01.09.2010

Öz

Yaygın gelişimsel bozukluklar, yaşamın erken dönemlerinde başlayan ve yaşam boyu süren; sosyal ilişkiler, iletişim, davranış ve bilişsel gelişmede gecikme ve sapmayla belirli nöropsikiyatrik bir bozukluktur. Möbius sendromu, alt ya da üst ekstremitelerde kas ya da kemik malformasyonları ile ilişkili tek ya da çift taraflı yüz ve göz felci ile karakterize bir klinik durumdur. Otizm ile belli bazı tıbbi durumlar arasında nedensel ilişki olabileceği öngörülmüşse de bu sonuca varmak çok kolay değildir. Olgu sunumları ve araştırmalar, Möbius sendromunda otizm eştanısına dikkat çekmektedir. Araştırmalarda Mobius sendromu ile otizm arasında güçlü bir ilişki varlığına vurgu yapılmasına karşın bu ilişki ile ilgili bazı sorular hala yanıtsız kalmaya devam etmektedir. Otizmin Möbius Sendromunda tanılı hastalarda sık olduğunu savunan çalışmaların yanında daha az saptandığını bildiren çalışmalar da vardır. Möbius sendromunun klinik özelliklerinin otizm tanısı koymada oluşturduğu güçlükler akılda tutulmalıdır. Geniş olgu serilerinde hem otizm eştanılı Möbius sendromu olgularının uzun dönem takibi bu birlikteliğin bir eştanı durumu mu yoksa sadece rastlantısal bir durum mu olduğunu anlamada önemli gözükmektedir.

Kaynakça

  • American Psychiatric Association: Dignostic and Statistical Manual of Mental Disorders (DSM-IV-TR). Washington DC, American Psychiatric Association, 2000.
  • Lamb JA, Parr JR, Bailey AJ, Monaco AP. Autism: in search of susceptibility genes. Neuromolecular Med 2002; 2:11-28.
  • Gillberg C, Coleman M. Autism and medical disorders: a review of the literature. Med Child Neurol 1996; 38:191-202.
  • Rutter M, Bailey A, Bolton P, Le Couter A. Autism and known medical conditions: myth and substance. J Child Psychol Psychiatry 1994; 35:311-322.
  • Bandim JM, Ventura LO, Miller MT Almeida HC, Santos Costa AE. Autism and Moebius sequence. An exploratory study of children in northeastern Brazil. Arq Neuropsiquiatr 2003; 61:181-185.
  • Johansson M, Wentz E, Fernell E, Strömland K, Miller MT, Gillberg C. Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals. Dev Med Child Neurol 2001; 43:338-345.
  • Briegel W. Neuropsychiatric findings of Mobius sequence. A review. Clin Genet 2006; 70: 91-97.
  • Verzijl HTFM, van der Zwaag B, Cruysberg JRM, Padberg GW. Mobius syndrome redefined. A syndrome of rhombencephalic maldevelopment. Neurology 2003; 61:327-333.
  • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics No.42). New York, Oxford University Press, 2001.
  • Kumar D. Moebius syndrome. J Med Genet 1990; 27:122-126.
  • Gonzalez CH, Vargas FR, Perez AB, Kim CA, Brunoni D, Marques-Dias MJ et al. Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy. Am J Med Genet 1993; 47:59-64.
  • Pastuszak AL, Schüler L, Speck-Martins CE, Coelho KE, Cordello SM, Vargas F et al. Use of misoprostol during pregnancy and Möbius' syndrome in infants. N Engl J Med 1998; 338:1881-1885.
  • Graf WD, Shepard TH. Uterine contraction in the development of Möbius syndrome. Child Neurol 1997; 12:225-227.
  • Firth, HV, Boyd PA, Chamberlain, P, MacKenzie IK, Lindenbaum RH, Huson SM. Seve- re limb abnormalities after chorionic villus sampling at 56–66 days’ gestation. Lancet 1991; 337:762-763.
  • Courtens W, Vamos E, Hainaut M, Vergauwen P. Moebius syndrome in an infant exposed in utero to benzodiazepines. J Pediatr 1992; 121:833-834.
  • Traboulsi E. Congenital abnormalities of cranial nerve development: Overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movement. Trans Am Ophthalmol Soc 2004; 102:373-389.
  • Rizos M, Negrón R, Serman N. Möbius syndrome with dental involvement: A case report and literature review. Cleft Palate Craniofac J 1998; 35:262-268.
  • Rodier PM, Ingram JL, Tisdale B, Nelson S, Romano J. Embriology origin for autism: developmental anomalies of cranial nerve motor nuclei. J Comp Neurol 1996; 370:247-261.
  • Hashimoto T, Tayama M, Murakawa K, Yoshimoto T, Miyazaki M, Harada M et al. Development of the brainstem and cerebellum in autistic patients. J Autism Dev Disord 1995; 25:1-18.
  • Gillberg C, Winnergard I. Childhood psychosis in a child with Moebius syndrome. Neuropediatrics 1984; 15:147-149.
  • Larrandaburu M, Schuler L, Ehlers JA, Reis AM, Silveira EL. The occurrence of Poland and Poland-Moebius syndromes in the same family: further evidence of a genetic component. Clin Dysmorphol 1999; 8:93-99.
  • Ornitz EM. The functional neuroanatomy of infantile autism. Int J Neurosci 1983; 19:85-124.
  • Gillberg C, Steffenburg S. Autistic behaviour in Moebius syndrome. Acta Paediatr Scand 1989; 99:399-406.
  • Miller M, Strömland K. The Möbius sequence: a relook. J AAPOS 1999; 3:199-208.
  • Leong S, Ashwell KW. Is there a zone of vascular vulnerability in the fetal, brain stem? Neurotoxicol Teratol 1997; 19:265-275.
  • Briegel W, Schimek M, Kamp-Becker I, Hofmann C, Schwab KO. Autism spectrum disorders in children and adolescents with Moebius sequence. Eur Child Adolesc Psychiatry 2009; 18:515-519.
Toplam 26 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Derleme
Yazarlar

İbrahim Durukan Bu kişi benim

Tümer Türkbay Bu kişi benim

Yayımlanma Tarihi 1 Eylül 2010
Yayımlandığı Sayı Yıl 2010 Cilt: 2 Sayı: 3

Kaynak Göster

AMA Durukan İ, Türkbay T. Möbius Sendromunda Otizm: Eştanı mı, Rastlantı mı?. Psikiyatride Güncel Yaklaşımlar. Eylül 2010;2(3):308-317.

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