Search results for "disability"
showing 10 items of 989 documents
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
2012
Background Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathway, as being responsible for this syndrome. Methods We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies. Results Seven mutations were identified at the KIF7 locus in these five cases, six of which are novel. We describe the first four compound heterozygous cases. In all patients, the diagnosis was suspecte…
Cross-Cultural Adaptation and Validation of the Finnish Version of the Michigan Hand Outcomes Questionnaire
2018
Background and Aims: Michigan Hand Outcomes Questionnaire is a widely used patient-reported outcome measure in hand surgery. The aim of this study was to translate and validate the Michigan Hand Outcomes Questionnaire into Finnish for Finnish patients with hand problems following international standards and guidelines. Material and Methods: The original English Michigan Hand Outcomes Questionnaire was translated into Finnish. Altogether, 115 patients completed the Finnish Michigan Hand Outcomes Questionnaire, and reference outcomes: Disabilities of the Arm and Shoulder, EQ-5D 3L and pain intensity on a visual analog scale. Grip and key pinch forces were measured. After 1–2 weeks, 63 patient…
Redefining the MED13L syndrome
2015
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…
The Impact of Abuse and Learning Difficulties on Emotion Understanding in Late Childhood and Early Adolescence
2014
Children's affective experiences and cognitive abilities have an impact on emotion understanding. However, their relative contribution, as well as the possibility of an interaction between them, has rarely been examined. The aim of the present study was to evaluate the influence of severe abuse and learning difficulties on simple and complex components of emotion understanding in late childhood and early adolescence. A total of 28 older children and young adolescents were selected for the study. Half of the participants had suffered from severe abuse, and half of these abused children additionally had learning disabilities. The remaining half of the sample had no history of abuse but were m…
Towards text simplification for poor readers with intellectual disability: When do connectives enhance text cohesion?
2013
Abstract Cohesive elements of texts such as connectives (e.g., but, in contrast) are expected to facilitate inferential comprehension in poor readers. Two experiments tested this prediction in poor readers with intellectual disability (ID) by: (a) comparing literal and inferential text comprehension of texts with and without connectives and/or high frequency content words (Experiment 1) and (b) exploring the effects of type and familiarity of connectives on two-clause text comprehension by means of a cloze task (Experiment 2). Neither the addition of high frequency content words nor connectives in general produced inferential comprehension improvements. However, although readers with ID wer…
Who do you refer to? How young students with mild intellectual disability confront anaphoric ambiguities in texts and sentences.
2015
Along 2 experiments we tested the anaphoric pronoun resolution abilities of readers with intellectual disability in comparison with chronological and reading age-matched groups. In Experiment 1, the anaphor test of Elosua, Carriedo, and Garcia-Madruga (2009) confirmed that readers with intellectual disability (ID) are slower than control readers resolving clitic anaphoric pronouns, especially when the use of morphological cues (e.g. gender) is necessary. In order to test if the poor performance could be due to low levels of metacognitive skills during reading, an inconsistency detection task combined with eye tracking was designed in Experiment 2. Participants read short texts with an anaph…
Aging and disability affect misdiagnosis of COPD in elderly asthmatics: the SARA study
2003
STUDY OBJECTIVES: This study investigated to what extent a diagnosis of COPD is erroneously made or the disease remains unrecognized in elderly asthmatic patients, and identified factors leading to misdiagnosis and underdiagnosis of asthma in such patients. DESIGN: A multicenter study involving 24 Italian pulmonary or geriatric institutions. PATIENTS: One hundred twenty-eight asthmatic patients (98 women, 76.6%) aged 73 +/- 6.4 years (mean +/- SD) were selected from the cohort of the Salute Respiratoria nell'Anziano (respiratory health in the elderly) study. METHODS: All patients underwent a clinical evaluation that included clinical history and spirometry with a bronchodilator test. A diag…
Midlife Cardiovascular Status and Old Age Physical Functioning Trajectories in Older Businessmen
2019
Objectives The associations between cardiovascular disease (CVD) risk and later physical functioning have been observed, but only a few studies with follow-up into old age are available. We investigated the association between cardiovascular status in midlife and physical functioning trajectories in old age. Design Prospective cohort study. Setting Helsinki Businessmen Study. Participants We studied white men born between 1919 and 1934 in the Helsinki Businessmen Study (HBS, initial n = 3490). Measurements Three CVD status groups were formed based on clinical measurements carried out in 1974: signs of CVD (diagnosed clinically or with changes in ECG, chronic disease present or used medicati…
Visual Acuity and Mortality in Older People and Factors on the Pathway
2008
To examine vision as a predictor of mortality in older people and the role of mobility, depressed mood, chronic diseases, body mass index, physical activity and injurious accidents in this possible association.223 persons aged 75 and 193 persons aged 80 years at the baseline participated in visual acuity measurements. Visual acuity (VA) of0.3 in the better eye was defined as visual impairment, VA ofor = 0.3 butor = 0.5 as lowered vision and VA0.5 as normal VA. Death dates were received from the official register. Cox regression models were used to determine the relative risks of mortality and to study what factors lie on the pathway from poor vision to mortality.Over the 10-year follow-up, …
Work careers in adults separated temporarily from their parents in childhood during World War II.
2019
Introduction: Traumatic experiences, such as separation from parents in childhood causing early life stress (ELS) may increase the risk of adverse long-term health outcomes and biological age-related changes. This may have an impact on work career. Our aim was to examine long term consequences of ELS due to temporary separation from parents during World War II (WWII) in relation to work career. - Material and methods: The Helsinki Birth Cohort Study comprises 13,345 individuals born in Helsinki, Finland, between the years 1934–1944. From the original cohort, 1781 individuals were identified as being separated temporarily from their parents due to World War II. Information on date and type o…