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| Untersuchte Arbeit: Seite: 18, Zeilen: 1-10 |
Quelle: Philip Bassett 2011 Seite(n): 2, 5, Zeilen: 2: 19ff; 5: 34ff |
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| Developmental delays and learning difficulties are very commonly associated, although severe intellectual disability is rare. Recurrent seizures are common and epilepsy may be present in about 5% of patients. Psychiatric conditions may be present in children and over 60% of patients develop treatable psychiatric disorders by adulthood (Bassett et al. 2005). In particular, due to the high frequency of schizophrenia in 22q11.2DS patients, the 22q11.2 region is considered to be one of the main schizophrenia susceptibility loci in humans (Bassett and Chow 2008; Insel 2010). Evidence from multiple studies indicates that about 1% of individuals with schizophrenia in the general population have 22q11.2 deletions (Bassett et al. 2010).
1. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet Part A. 2005; 138:307–313. 2. Bassett AS, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep. 2008; 10:148–157. 3. Bassett AS, Costain G, Fung WLA, Russell KJ, Pierce L, Kapadia R, Carter RF, Chow EW, Forsythe PJ. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res. 2010; 44:1005–1009. 13. Insel TR. Rethinking schizophrenia. Nature. 2010; 468:187–193. |
Developmental delays and learning difficulties are very commonly associated, although severe intellectual disability (termed mental retardation in the DSM diagnostic system) is rare. Recurrent seizures are common, especially those related to hypocalcemia, and epilepsy may be present in about 5% of patients. Psychiatric conditions may be present in children and over 60% of patients develop treatable psychiatric disorders by adulthood (Bassett et al. 2005). This risk is a major concern for families. In particular, due to the high frequency of schizophrenia in 22q11.2DS patients, the 22q11.2 region is considered to be one of the main schizophrenia susceptibility loci in humans (Bassett and Chow 2008; Insel 2010).
[page 5] Evidence from multiple studies indicates that about 1% of individuals with schizophrenia in the general population have 22q11.2 deletions (Bassett et al. 2010). Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet Part A. 2005; 138:307–313. [PubMed: 16208694] Bassett AS, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep. 2008; 10:148–157. [PubMed: 18474208] Bassett AS, Costain G, Fung WLA, Russell KJ, Pierce L, Kapadia R, Carter RF, Chow EW, Forsythe PJ. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res. 2010; 44:1005–1009. [PubMed: 20643418] Insel TR. Rethinking schizophrenia. Nature. 2010; 468:187–193. [PubMed: 21068826] |
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