Yıl 2018,
Cilt: 10 Sayı: 2, 228 - 248, 30.06.2018
Önder Küçük
,
Gözde Ulaş
Ferhat Yaylacı
,
Süha Miral
Öz
Geniş otizm fenotipi otistik bireylerin yakın akrabalarında bilişsel, sosyal, iletişimsel, davranışsal ve kişilik alanlarında gözlenebilen bozulmalarla karakterizedir. Otizm üzerine yapılan ilk çalışmalardan itibaren elde edilen verilerde; otistik bireylerin kardeşlerinde ve ebeveynlerinde daha hafif derecede otistik belirtilerin gözlendiği ve bunun otizm için endofenotip olabileceği düşünülmektedir. Bu derlemede geniş otizm fenotipinin tanısal değerlendirilmesi, belirtileri, bulguları araştırılmış ve yazında yapılan çalışmalar üzerinden elde edilen veriler gözden geçirilmiştir.
Kaynakça
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Yıl 2018,
Cilt: 10 Sayı: 2, 228 - 248, 30.06.2018
Önder Küçük
,
Gözde Ulaş
Ferhat Yaylacı
,
Süha Miral
Öz
Broad autism phenotype is characterized by impairments in cognitive, social, communicative, behavioral and personality domains of close relatives to autistic individuals. Initial data derived from studies conducted on autism reflect mild autistic symptoms observed in siblings and parents of autistic individuals and this might be considered as an endophenotype for autism. With this review, we have aimed to summarize and interpret the entity of broad autism phenotype, within the context of its diagnostic assessment, its symptoms and relevant studies conducted so far.
Kaynakça
- Adolphs R, Spezio ML, Parlier M, Piven J (2008) Distinct face-processing strategies in parents of autistic children. Curr Biol, 18:1090–1093.
- Amaral DG, Schumann CM, Nordahl CW (2008) Neuroanatomy of autism. Trends Neurosci, 31:137–145.
- Amaral DG, Dawson G, Geschwind GH (2011) Autism Spectrum Disorders. Oxford, Oxford University Press.
- APA (2000) Diagnostic and Statistical Manual of Mental Disorders, 4th ed. Text Rev (DSM-IV-TR). Washington DC, American Psychiatric Association.
- Austin EJ (2005) Personality correlates of the broader autism phenotype as assessed by the Autism Spectrum Quotient (AQ). Pers Individ Dif, 38:451–460.
- Aydın A, Saraç T (2014) Otistik bireylerin özellikleri ile ebeveynlerinin geniş otizm fenotipi ve aleksitimik özelliklerinin incelenmesi. The Journal of Academic Social Science Studies, 24:183-209.
- Bailey A, Palferman S, Heavey L, Le Couteur A (1998) Autism: the phenotype in relatives. J Autism Dev Disord, 28:369–392.
- Barnea-Goraly N, Lotspeich LJ, Reiss AL (2010) Similar white matter aberrations in children with autism and their unaffected siblings. Arch Gen Psychiatry, 67:1052–1060.
- Baron-Cohen S (1998) Autism occurs more often in families of physicists, engineers, and mathematicians. Autism, 2:296–301.
- Baron-Cohen S (2002) The extreme male brain theory of autism. Trends Cogn Sci, 6:248–254.
- Baron-Cohen S, Hammer J (1997) Parents of children with Asperger syndrome: what is the cognitive phenotype? J Cogn Neurosci, 9:548–554.
- Baron-Cohen S, Ring H, Chitnis X, Wheelwright S, Gregory L, Williams S et al (2006) fMRI of parents of children with Asperger Syndrome: a pilot study. Brain Cogn, 61:122–130.
- Baron-Cohen S, Wheelwright S, Skinner R, Martin J, Clubley E (2001) The Autism-Spectrum Quotient (AQ): evidence from Asperger Syndrome/high-functioning autism, males and females, scientists and mathematicians. J Autism Dev Disord, 31:5-17.
- Bartak L, Rutter M, Cox A (1975) A comparative study of infantile autism and specific developmental receptive language disorder: I. the children. Br J Psychiatry, 126:127–145.
- Baykara B, Gencer Ö, İlkin Z, Miral S (2008) Otistik çocukların ana babalarında frontal loba özgü nörobilişsel özellikler. Türk Psikiyatri Derg, 19:225- 234.
- Belmonte MK, Gomot M, Baron-Cohen S (2010) Visual attention in autism families: “Unaffected” sibs share atypical frontal activation. J Child Psychol Psychiatry, 51:259–276.
- Ben-Yizhak N, Yirmiya N, Seidman I, Alon R, Lord C, Sigman M (2011) Pragmatic language and school related linguistic abilities in siblings of children with autism. J Autism Dev Disord, 41:750–760.
- Best CS, Moffat VJ, Power MJ, Owens DG, Johnstone EC (2008) The boundaries of the cognitive phenotype of autism: theory of mind, central coherence and ambiguous figure perception in young people with autistic traits. J Autism Dev Disord, 38:840–847.
- Bishop DVM (1998) Development of the Children’s Communication Checklist (CCC): A method for assessing qualitative aspects of communicative impairment in children. J Child Psychol Psychiatry, 39:879–891.
- Bishop DVM (2003) The Children’s Communication Checklist version 2 (CCC-2). London, England, Psychological Corporation.
- Bishop DVM, Maybery M, Wong D, Maley A, Hallmayer J (2006) Characteristics of the broader phenotype in autism: A study of siblings using the Children’s Communication Checklist-2. Am J Med Genet B Neuropsychiatr Genet,141B:117–122.
- Bishop DVM, Maybery M, Wong D, Maley A, Hill W, Hallmayer J (2004) Are phonological processing deficits part of the broad autism phenotype? Am J Med Genet B Neuropsychiatr Genet, 128B:54–60.
- Bleuler E (1911) Dementia praecox oder gruppe der schizophrenien. In: Handbuch der Psychiatrie (Ed G.Aschaffenburg): Spezieller Teil. 4. Abteilung.1. Hälfte. Leipzig, Franz Deuticke.
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