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DNA studies of X-linked mental retardation associated with a fragile site at Xq27.3. x连锁智力低下与Xq27.3脆弱位点相关的DNA研究。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
P Goonewardena, N Dahl, K H Gustavson, G Holmgren, U Pettersson
{"title":"DNA studies of X-linked mental retardation associated with a fragile site at Xq27.3.","authors":"P Goonewardena,&nbsp;N Dahl,&nbsp;K H Gustavson,&nbsp;G Holmgren,&nbsp;U Pettersson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The fragile-X mental retardation syndrome (FRAX-MR) is one of the most prevalent X-linked diseases. In affected males and in a proportion of carrier females a fragile site at Xq27.3 [fra (X)] is detected when the lymphocytes are cultured under conditions of thymidine deprivation. The fra (X) analysis can be used in the diagnosis of only 56% of carrier females (13, 14) and prenatal diagnosis by this method is not always feasible, thus making genetic counselling of affected families difficult, and sometimes impossible. We have analysed FRAX-MR families using RFLP and four DNA probes from Xq27-Xq28. Estimation of the recombination fraction indicates that the proximal probe F9 is not significantly linked to the FRAX-MR locus while the three distal probes F8, DXS52 and DXS15 show linkage. These probes could be used in the diagnosis of FRAX-MR in those families that do not show evidence for recombination. Used in conjunction with the fra (X) analysis, the segregation studies with these probes should improve the genetic counselling of the FRAX-MR syndrome and should be useful for the genetic and molecular analysis of this unique disease.</p>","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"155-64"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14031857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aspects of prenatal prevention. 产前预防方面。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
G Holmgren
{"title":"Aspects of prenatal prevention.","authors":"G Holmgren","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>There has been strong progress in the field of prenatal prevention during the last decade. New technical advances have made it possible to diagnose new disorders prenatally and in the near future intrauterine treatment will become feasible for some of them.</p>","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"226-30"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14455938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associated handicap and mild mental retardation. 伴有残疾和轻度智力迟钝。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
R O Robinson
{"title":"Associated handicap and mild mental retardation.","authors":"R O Robinson","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"99-102"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14604441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Scientific studies in mild mental retardation. Epidemiology, origin and prevention. Proceedings of the 2nd European Symposium on Scientific Studies in Mental Retardation. Uppsala, Sweden, June 24-26, 1986. 轻度智力迟钝的科学研究。流行病学、起源和预防。第二届欧洲智力迟钝科学研究研讨会论文集。1986年6月24日至26日，瑞典乌普萨拉。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
{"title":"Scientific studies in mild mental retardation. Epidemiology, origin and prevention. Proceedings of the 2nd European Symposium on Scientific Studies in Mental Retardation. Uppsala, Sweden, June 24-26, 1986.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"1-240"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14604857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aspects on the prevention of mental handicap associated with intrauterine growth retardation. 预防与宫内发育迟缓相关的智力障碍的几个方面。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
G Lindmark
{"title":"Aspects on the prevention of mental handicap associated with intrauterine growth retardation.","authors":"G Lindmark","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"175-7"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14455935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mortality, life expectancy and causes of death of mildly mentally retarded in Denmark. 丹麦轻度智力迟钝者的死亡率、预期寿命和死亡原因。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
A Dupont, M Vaeth, P Videbech
{"title":"Mortality, life expectancy and causes of death of mildly mentally retarded in Denmark.","authors":"A Dupont,&nbsp;M Vaeth,&nbsp;P Videbech","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Based upon the nationwide Danish registration, all cases with ICD 8 diagnoses 310 and 311 were drawn; 71% lived outside institutions. 7,134 persons were studied for the period 1 January 1976-3 March 1984 and examined in the central register for death, emigration, etc. 5.86%, 446 died during the observation period from 1 January 1976 to 31 March 1984. Mortality tables show estimated survival probability at the end of the 5-year intervals and the life expectancy at the start of the age intervals. Only small differences were found when comparing differences of mortality for sex and residence (institutions or outside institutions). By a linkage study with the Danish Central Register for causes of death in the National Health Service of Denmark, the causes of death were obtained. For males of the age 15-64 an excess mortality of malignant neoplasms, of diseases of the respiratory system, of congenital malformations, and of accidents were found. For females the pattern was less significant.</p>","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"76-82"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14604438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neonatal factors in mild mental retardation. 轻度智力迟钝的新生儿因素。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
G Sedin, K Hammarlund
{"title":"Neonatal factors in mild mental retardation.","authors":"G Sedin,&nbsp;K Hammarlund","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"183-7"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14607166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mild mental retardation in northern Finland. 芬兰北部的轻度智力迟钝。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
L von Wendt, P Rantakallio
{"title":"Mild mental retardation in northern Finland.","authors":"L von Wendt,&nbsp;P Rantakallio","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The occurrence and aetiology of mild mental retardation (IQ 50-70) and borderline retardation (IQ 71-85) were studied on the basis of a one-year (1966) birth cohort of 12,058 live-born infants, which were followed prospectively up to the age of 14 years. The cumulative incidences for MMR and borderline retardation were 5.5 and 13.4 per 1,000 respectively. In the borderline group there was a male preponderance of 2.3:1 as compared to 1.2:1 in MMR children. A causal factor could be identified for 46.9% of MMR children and 31.4% of borderline ones. Prenatal factors had very little bearing, since only 6% of the MMR and 6.7% of the borderline cases had such, as compared to 28.7% and 20.4% for perinatal factors and 12.1% and 4.3% for postnatal factors. An analysis of the impact of specific obstetrical and perinatal factors revealed that very few constituted relevant relative risks for mental retardation.</p>","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"47-51"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14604436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Estimate of prevalence of mild mental retardation: methodological aspects. 估计轻度智力迟钝的患病率:方法学方面。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
E Alberman
{"title":"Estimate of prevalence of mild mental retardation: methodological aspects.","authors":"E Alberman","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This paper sets out from an epidemiological point of view problems of measuring the prevalence of mild mental retardation. These include the problems always met in prevalence studies, of the validity of the classification, the completeness of ascertainment and the estimation of the size and characteristics of the denominator population. They also include difficulties peculiar to the condition of mild mental retardation, including the choice of method of classification whether by IQ testing or administratively; the heterogeneous nature of the individuals so characterised; and the confounding effects of social and biological factors and the changes in the implications for the affected individual of the condition, depending on age, sex and environment. It is concluded that normally measurements of prevalence can only be carried out on school age children and that these will change with age, and that we probably know very little about prevalence or implications of mild mental retardation at other ages.</p>","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"34-7"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14607172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening and prevalence of mental retardation in four Finnish birth cohorts. 四个芬兰出生队列中智力迟钝的筛查和流行情况。
Upsala journal of medical sciences. Supplement Pub Date : 1987-01-01
R Kääriäinen
{"title":"Screening and prevalence of mental retardation in four Finnish birth cohorts.","authors":"R Kääriäinen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Four birth cohorts born in 1969-1972 and living at the time of the census in Kuopio Province, Finland, were screened for mental retardation in two phases using school achievement tests in reading and mathematics. The criterion of mental retardation was established using psychological tests of verbal and visual perception abilities. The control groups of the two screening phases were randomly sampled from the studied birth cohorts. The case group was obtained on the basis of the mean and standard deviation of the control group scores in the psychological tests. A score of more than 2 SD under the mean (IQ less than or equal to 0.70) was the criterion of mental retardation. The overlap between the school achievement and psychological test matrices was explained with a general type canonical variate. The prevalence results were similar to earlier screening studies, but were clearly different from studies using only registered populations.</p>","PeriodicalId":76782,"journal":{"name":"Upsala journal of medical sciences. Supplement","volume":"44 ","pages":"41-6"},"PeriodicalIF":0.0,"publicationDate":"1987-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14607173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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