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50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature156293
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Publication Type
Article
Date
Aug-2008
Author
Wendy J Broom
Matthew Greenway
Ghazaleh Sadri-Vakili
Carsten Russ
Kristen E Auwarter
Kelly E Glajch
Nicolas Dupre
Robert J Swingler
Shaun Purcell
Caroline Hayward
Peter C Sapp
Diane McKenna-Yasek
Paul N Valdmanis
Jean-Pierre Bouchard
Vincent Meininger
Betsy A Hosler
Jonathan D Glass
Meraida Polack
Guy A Rouleau
Jang-Ho J Cha
Orla Hardiman
Robert H Brown
Author Affiliation
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA. wendy.broom@gmail.com
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Age of Onset
Amyotrophic Lateral Sclerosis - enzymology - epidemiology - genetics
Base Sequence
DNA Mutational Analysis
Female
Gene Expression
Genetic Predisposition to Disease
Genotype
Homozygote
Humans
Ireland - epidemiology
Male
Middle Aged
Phenotype
Polymorphism, Genetic
Promoter Regions, Genetic
Quebec - epidemiology
Risk factors
Scotland - epidemiology
Sequence Deletion
Sp1 Transcription Factor - metabolism
Superoxide Dismutase - genetics - metabolism
United States - epidemiology
Abstract
The objective was to test the hypothesis that a described association between homozygosity for a 50bp deletion in the SOD1 promoter 1684bp upstream of the SOD1 ATG and an increased age of onset in SALS can be replicated in additional SALS and control sample sets from other populations. Our second objective was to examine whether this deletion attenuates expression of the SOD1 gene. Genomic DNA from more than 1200 SALS cases from Ireland, Scotland, Quebec and the USA was genotyped for the 50bp SOD1 promoter deletion. Reporter gene expression analysis, electrophoretic mobility shift assays and chromatin immunoprecipitation studies were utilized to examine the functional effects of the deletion. The genetic association for homozygosity for the promoter deletion with an increased age of symptom onset was confirmed overall in this further study (p=0.032), although it was only statistically significant in the Irish subset, and remained highly significant in the combined set of all cohorts (p=0.001). Functional studies demonstrated that this polymorphism reduces the activity of the SOD1 promoter by approximately 50%. In addition we revealed that the transcription factor SP1 binds within the 50bp deletion region in vitro and in vivo. Our findings suggest the hypothesis that this deletion reduces expression of the SOD1 gene and that levels of the SOD1 protein may modify the phenotype of SALS within selected populations.
PubMed ID
18608091 View in PubMed
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Age standardised incidence rates of lip, tongue and mouth cancers in three regions of Ireland, 1984-1988.

https://arctichealth.org/en/permalink/ahliterature24254
Source
J Ir Dent Assoc. 1993;39(5):122-4
Publication Type
Article
Date
1993

Anaesthesiological manpower in Europe.

https://arctichealth.org/en/permalink/ahliterature211565
Source
Eur J Anaesthesiol. 1996 Jul;13(4):325-32
Publication Type
Article
Date
Jul-1996
Author
G. Rolly
W R MacRae
W P Blunnie
M. Dupont
P. Scherpereel
Author Affiliation
University Hospital, Department of Anaesthesiology, Gent, Belgium.
Source
Eur J Anaesthesiol. 1996 Jul;13(4):325-32
Date
Jul-1996
Language
English
Publication Type
Article
Keywords
Adult
Age Distribution
Aged
Anesthesiology - education - manpower - statistics & numerical data
Europe - epidemiology
European Union - statistics & numerical data
Female
France - epidemiology
Great Britain - epidemiology
Humans
Ireland - epidemiology
Italy - epidemiology
Male
Middle Aged
Norway - epidemiology
Nurse Anesthetists - statistics & numerical data
Physician Assistants - statistics & numerical data
Population
Sex Distribution
Switzerland - epidemiology
Abstract
Information about physician anaesthesiologist manpower in the countries of the European Union was collected from questionnaires sent to the delegates representing their respective countries on the European Board of Anaesthesiology. In the countries of the European Union and Switzerland and Norway 40,259 specialist anaesthesiologists are recorded. The number of anaesthesiologists in relation to population varies between as little as 4.4 and 4.6 (Ireland and UK) and as many as 15.6 (Italy), with a mean of 10.8/100,000 inhabitants. There are 11,610 physicians recorded in training in anaesthesiology. The ratio of trainees to specialists in the European Union countries was 28.8/100, varying from as low as 6.5 in France, to as high as 96.7 and 98/100 in Ireland and the UK respectively. These figures indicate a wide difference in the numbers of specialists and trainees between the European countries studied. However, the overall mean figure is close to that reported in the USA (9.2/100,000).
Notes
Comment In: Eur J Anaesthesiol. 1996 Jul;13(4):314-58842649
Comment In: Eur J Anaesthesiol. 1997 Jul;14(4):4779253582
PubMed ID
8842651 View in PubMed
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Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study.

https://arctichealth.org/en/permalink/ahliterature260423
Source
Lancet Neurol. 2014 Nov;13(11):1108-13
Publication Type
Article
Date
Nov-2014
Author
Ammar Al-Chalabi
Andrea Calvo
Adriano Chio
Shuna Colville
Cathy M Ellis
Orla Hardiman
Mark Heverin
Robin S Howard
Mark H B Huisman
Noa Keren
P Nigel Leigh
Letizia Mazzini
Gabriele Mora
Richard W Orrell
James Rooney
Kirsten M Scott
William J Scotton
Meinie Seelen
Christopher E Shaw
Katie S Sidle
Robert Swingler
Miho Tsuda
Jan H Veldink
Anne E Visser
Leonard H van den Berg
Neil Pearce
Source
Lancet Neurol. 2014 Nov;13(11):1108-13
Date
Nov-2014
Language
English
Publication Type
Article
Keywords
Adult
Aged
Amyotrophic Lateral Sclerosis - diagnosis - epidemiology
Disease Progression
England - epidemiology
Female
Finland - epidemiology
Humans
Ireland - epidemiology
Italy - epidemiology
Linear Models
Male
Middle Aged
Models, Theoretical
Population Surveillance - methods
Registries - statistics & numerical data
Scotland - epidemiology
Abstract
Amyotrophic lateral sclerosis shares characteristics with some cancers, such as onset being more common in later life, progression usually being rapid, the disease affecting a particular cell type, and showing complex inheritance. We used a model originally applied to cancer epidemiology to investigate the hypothesis that amyotrophic lateral sclerosis is a multistep process.
We generated incidence data by age and sex from amyotrophic lateral sclerosis population registers in Ireland (registration dates 1995-2012), the Netherlands (2006-12), Italy (1995-2004), Scotland (1989-98), and England (2002-09), and calculated age and sex-adjusted incidences for each register. We regressed the log of age-specific incidence against the log of age with least squares regression. We did the analyses within each register, and also did a combined analysis, adjusting for register.
We identified 6274 cases of amyotrophic lateral sclerosis from a catchment population of about 34 million people. We noted a linear relationship between log incidence and log age in all five registers: England r(2)=0·95, Ireland r(2)=0·99, Italy r(2)=0·95, the Netherlands r(2)=0·99, and Scotland r(2)=0·97; overall r(2)=0·99. All five registers gave similar estimates of the linear slope ranging from 4·5 to 5·1, with overlapping confidence intervals. The combination of all five registers gave an overall slope of 4·8 (95% CI 4·5-5·0), with similar estimates for men (4·6, 4·3-4·9) and women (5·0, 4·5-5·5).
A linear relationship between the log incidence and log age of onset of amyotrophic lateral sclerosis is consistent with a multistage model of disease. The slope estimate suggests that amyotrophic lateral sclerosis is a six-step process. Identification of these steps could lead to preventive and therapeutic avenues.
UK Medical Research Council; UK Economic and Social Research Council; Ireland Health Research Board; The Netherlands Organisation for Health Research and Development (ZonMw); the Ministry of Health and Ministry of Education, University, and Research in Italy; the Motor Neurone Disease Association of England, Wales, and Northern Ireland; and the European Commission (Seventh Framework Programme).
Notes
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Comment In: Lancet Neurol. 2014 Nov;13(11):1067-825300935
PubMed ID
25300936 View in PubMed
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An analysis of the existing resources in relation to education and treatment of diabetes in four European countries: Estonia, Finland, Ireland, and Lithuania.

https://arctichealth.org/en/permalink/ahliterature137696
Source
Appl Nurs Res. 2011 May;24(2):118-23
Publication Type
Article
Date
May-2011
Author
Aileen Burton
Ìrma Mikkonen
Catherine Buckley
Sile Creedon
Marja-Anneli Hynynen
Marit Kiljako
Lilija Kuzminskiene
Patricia Leahy-Warren
Inga Mikutaviciene
Seija Puputti
Vilma Rasteniene
Riita Riikonen
Piret Simm
Eve-Merike Soovali
Arja-Irene Tiainen
Ritva Väistö
Author Affiliation
Catherine McAuley School of Nursing and Midwifery, University College Cork, Ireland. a.burton@ucc.ie
Source
Appl Nurs Res. 2011 May;24(2):118-23
Date
May-2011
Language
English
Publication Type
Article
Keywords
Cost of Illness
Diabetes Mellitus - epidemiology - therapy
Estonia - epidemiology
Finland - epidemiology
Health Care Rationing
Humans
Ireland - epidemiology
Lithuania - epidemiology
Patient Education as Topic
Prevalence
Abstract
Diabetes has reached pandemic proportions worldwide. To address and assist health care professionals in maintaining and updating their knowledge base on diabetes care, a multilateral project within the framework of the Lifelong Learning Programme and the Erasmus Curriculum Development - sub programme was initiated in 2008. Four European countries are involved in the project - Estonia, Finland, Ireland and Lithuania. Across all four countries the prevalence of diabetes is rising rapidly. The project's (DIPRA - Counselling for Practice - a pilot of improving counselling quality of diabetes) main product will be an on-line study module on patient education and counselling for health care professionals. The management of diabetes demands a broad range of skills which include, communication, leadership, counselling, teaching and research to name but a few. While it is acknowledged that nurses can incorporate these skills into practice and so benefit the care of the patient there is no uniformity across the four countries studied as to what constitutes a specialist diabetes nurse. The study module and all the materials (databank, on-line lectures, and interactive exercises) will be developed in English and translated into partners' national languages (Estonian, Finnish, Lithuanian) to maximize the accessibility of all professionals in partner countries.
Notes
Comment In: Appl Nurs Res. 2011 May;24(2):124-521193291
PubMed ID
21255975 View in PubMed
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Antenatal care in Europe: varying ways of providing high-coverage services.

https://arctichealth.org/en/permalink/ahliterature58687
Source
Eur J Obstet Gynecol Reprod Biol. 2001 Jan;94(1):145-8
Publication Type
Article
Date
Jan-2001
Author
E. Hemminki
B. Blondel
Author Affiliation
Research Unit on Women's and Children's Health, INSERM-U 149, 16 Avenue P. Vaillant-Couturier, Villejuif, France. elina.hemminki@stakes.fi
Source
Eur J Obstet Gynecol Reprod Biol. 2001 Jan;94(1):145-8
Date
Jan-2001
Language
English
Publication Type
Article
Keywords
Delivery of Health Care - organization & administration
Europe - epidemiology
Female
Finland - epidemiology
Germany - epidemiology
Greece - epidemiology
Gynecology
Health Services - utilization
Humans
Infant mortality
Infant, Newborn
Ireland - epidemiology
Norway - epidemiology
Obstetrics
Pregnancy
Prenatal care - organization & administration
Quality of Health Care
Research Support, Non-U.S. Gov't
Sweden - epidemiology
Women's Health Services
Abstract
OBJECTIVES: To describe the organizational characteristics of antenatal care and their relation to the utilization of health services and perinatal mortality in 13 European countries. METHODS: The main data source was a questionnaire on the organization and financing of antenatal care, filled out in 1995 by country representatives of a European Concerted Action. RESULTS: Thirteen systems for providing antenatal care were found. No clear grouping by organizational characteristics (uniformity, main care providers, integration, continuity of care, physical site, financing) emerged. Organizational characteristics and the utilization of antenatal services or perinatal mortality did not relate to each other. CONCLUSIONS: There is no single way to provide high-coverage services. Further studies are needed to relate organization characteristics to health impact, costs, and patient satisfaction.
PubMed ID
11134840 View in PubMed
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Association of mortality with years of education in patients with ST-segment elevation myocardial infarction treated with fibrinolysis.

https://arctichealth.org/en/permalink/ahliterature138092
Source
J Am Coll Cardiol. 2011 Jan 11;57(2):138-46
Publication Type
Article
Date
Jan-11-2011
Author
Rajendra H Mehta
J Conor O'Shea
Amanda L Stebbins
Christopher B Granger
Paul W Armstrong
Harvey D White
Eric J Topol
Robert M Califf
E Magnus Ohman
Author Affiliation
Duke Clinical Research Institute and Duke University Medical Center, Durham, North Carolina 27715, USA. mehta007@dcri.duke.edu
Source
J Am Coll Cardiol. 2011 Jan 11;57(2):138-46
Date
Jan-11-2011
Language
English
Publication Type
Article
Keywords
Aged
Alberta - epidemiology
Electrocardiography
Female
Fibrinolytic Agents - therapeutic use
Follow-Up Studies
Humans
Ireland - epidemiology
Male
Middle Aged
Myocardial Infarction - drug therapy - mortality - physiopathology
New Zealand - epidemiology
Patient Education as Topic - methods
Retrospective Studies
Survival Rate - trends
Thrombolytic Therapy - methods
Time Factors
United States - epidemiology
Abstract
The purpose of this study was to examine the association between lower socioeconomic status (SES), as ascertained by years of education, and outcomes in patients with acute ST-segment elevation myocardial infarction (STEMI).
Previous studies have shown an inverse relationship between SES and coronary heart disease and mortality. Whether a similar association between SES and mortality exists in STEMI patients is unknown.
We evaluated 11,326 patients with STEMI in the GUSTO-III (Global Use of Strategies to Open Occluded Coronary Arteries) trial study from countries that enrolled >500 patients. We evaluated clinical outcomes (adjusted using multivariate regression analysis) according to the number of years of education completed.
One-year mortality was inversely related to years of education and was 5-fold higher in patients with 16 years of education (17.5% vs. 3.5%, p
PubMed ID
21211684 View in PubMed
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Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy.

https://arctichealth.org/en/permalink/ahliterature123196
Source
Diabetes. 2012 Aug;61(8):2187-94
Publication Type
Article
Date
Aug-2012
Author
Winfred W Williams
Rany M Salem
Amy Jayne McKnight
Niina Sandholm
Carol Forsblom
Andrew Taylor
Candace Guiducci
Jarred B McAteer
Gareth J McKay
Tamara Isakova
Eoin P Brennan
Denise M Sadlier
Cameron Palmer
Jenny Söderlund
Emma Fagerholm
Valma Harjutsalo
Raija Lithovius
Daniel Gordin
Kustaa Hietala
Janne Kytö
Maija Parkkonen
Milla Rosengård-Bärlund
Lena Thorn
Anna Syreeni
Nina Tolonen
Markku Saraheimo
Johan Wadén
Janne Pitkäniemi
Cinzia Sarti
Jaakko Tuomilehto
Karl Tryggvason
Anne-May Österholm
Bing He
Steve Bain
Finian Martin
Catherine Godson
Joel N Hirschhorn
Alexander P Maxwell
Per-Henrik Groop
Jose C Florez
Author Affiliation
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.
Source
Diabetes. 2012 Aug;61(8):2187-94
Date
Aug-2012
Language
English
Publication Type
Article
Keywords
Adaptor Proteins, Signal Transducing - genetics
Adult
Case-Control Studies
Diabetes Mellitus, Type 1 - epidemiology - genetics
Diabetic Nephropathies - epidemiology - genetics
Erythropoietin - genetics
European Continental Ancestry Group - genetics
Finland - epidemiology
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Ireland - epidemiology
Kidney Failure, Chronic - genetics
Phenotype
Promoter Regions, Genetic - genetics
United States - epidemiology
Abstract
We formed the GEnetics of Nephropathy-an International Effort (GENIE) consortium to examine previously reported genetic associations with diabetic nephropathy (DN) in type 1 diabetes. GENIE consists of 6,366 similarly ascertained participants of European ancestry with type 1 diabetes, with and without DN, from the All Ireland-Warren 3-Genetics of Kidneys in Diabetes U.K. and Republic of Ireland (U.K.-R.O.I.) collection and the Finnish Diabetic Nephropathy Study (FinnDiane), combined with reanalyzed data from the Genetics of Kidneys in Diabetes U.S. Study (U.S. GoKinD). We found little evidence for the association of the EPO promoter polymorphism, rs161740, with the combined phenotype of proliferative retinopathy and end-stage renal disease in U.K.-R.O.I. (odds ratio [OR] 1.14, P = 0.19) or FinnDiane (OR 1.06, P = 0.60). However, a fixed-effects meta-analysis that included the previously reported cohorts retained a genome-wide significant association with that phenotype (OR 1.31, P = 2 × 10(-9)). An expanded investigation of the ELMO1 locus and genetic regions reported to be associated with DN in the U.S. GoKinD yielded only nominal statistical significance for these loci. Finally, top candidates identified in a recent meta-analysis failed to reach genome-wide significance. In conclusion, we were unable to replicate most of the previously reported genetic associations for DN, and significance for the EPO promoter association was attenuated.
Notes
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Comment In: Diabetes. 2012 Aug;61(8):1923-422826311
PubMed ID
22721967 View in PubMed
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Balancing the harms and benefits of early detection of prostate cancer.

https://arctichealth.org/en/permalink/ahliterature140844
Source
Cancer. 2010 Oct 15;116(20):4857-65
Publication Type
Article
Date
Oct-15-2010
Author
Pim J van Leeuwen
David Connolly
Teuvo L J Tammela
Anssi Auvinen
Ries Kranse
Monique J Roobol
Fritz H Schroder
Anna Gavin
Author Affiliation
Erasmus University Medical Center, Rotterdam, Netherlands. p.vanleeuwen@erasmusmc.nl
Source
Cancer. 2010 Oct 15;116(20):4857-65
Date
Oct-15-2010
Language
English
Publication Type
Article
Keywords
Aged
Early Detection of Cancer - adverse effects
Finland - epidemiology
Humans
Incidence
Male
Middle Aged
Netherlands - epidemiology
Northern Ireland - epidemiology
Prostate-Specific Antigen - blood
Prostatic Neoplasms - diagnosis - epidemiology - mortality
Sweden - epidemiology
Abstract
The benefits of prostate cancer screening on an individual level remain unevaluated.
Between 1993 and 1999, a total of 43,987 men, aged 55-74 years, were included in the intervention arm of the European Randomized Study of Screening for Prostate Cancer (ERSPC) section in the Netherlands, Sweden, and Finland. A total of 42,503 men, aged 55-74 years, were included in a clinical population in Northern Ireland. Serum prostate-specific antigen (PSA)
Notes
Comment In: Expert Rev Anticancer Ther. 2011 Feb;11(2):169-7221342035
Comment In: Cancer. 2011 Aug 1;117(15):3533-4; author reply 353421319146
PubMed ID
20839233 View in PubMed
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Behavioural characteristics and autistic features in individuals with Cohen Syndrome.

https://arctichealth.org/en/permalink/ahliterature29806
Source
Eur Child Adolesc Psychiatry. 2005 Mar;14(2):57-64
Publication Type
Article
Date
Mar-2005
Author
Patricia Howlin
Janne Karpf
Jeremy Turk
Author Affiliation
Dept. of Psychology, St. George's Hospital Medical School, London SW 17 ORE, UK. phowlin@sghms.ac.uk
Source
Eur Child Adolesc Psychiatry. 2005 Mar;14(2):57-64
Date
Mar-2005
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - epidemiology
Adolescent
Adult
Anxiety - epidemiology
Autistic Disorder - epidemiology
Child
Child, Preschool
Craniofacial Abnormalities
Denmark - epidemiology
Eye Abnormalities
Female
Great Britain - epidemiology
Humans
Ireland - epidemiology
Male
Microcephaly
Middle Aged
Research Support, Non-U.S. Gov't
Social Behavior Disorders - epidemiology
Syndrome
Abstract
Diagnostic criteria for Cohen Syndrome are based largely on physical characteristics, and systematic information about behaviour and social functioning is limited. Typically, individuals with this condition are described as being very sociable and as showing low rates of pathology. However, recent studies have indicated that behavioural difficulties may occur more frequently than previously suggested and that autistic features may be relatively common. The present investigation of 45 individuals with Cohen Syndrome (age 4-48 years) found that, although 57% of the sample were reported as showing some behavioural disturbance, problems related mainly to anxiety and social interactions; marked anti-social behaviours were rare. Twenty-two individuals met criteria for autism on standardised diagnostic assessments, although the "autistic profile" was somewhat atypical. The implications of these findings for our understanding of Cohen Syndrome are discussed.
PubMed ID
15793684 View in PubMed
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65 records – page 1 of 7.