Clinical guidelines exist for the treatment of chronic epilepsy and epilepsy in women 2. This pub... more Clinical guidelines exist for the treatment of chronic epilepsy and epilepsy in women 2. This publication provides guidance for the clinician investigating and managing epilepsy in adults who have an intellectual disability as defined by an Intelligence Quotient (IQ) of less than 70, onset in the developmental period and difficulties with adaptive functioning.
Journal of Intellectual Disability Research, Jun 28, 2008
Pharmacokiiieiic properties and efficacy of a conventional (C) carbamazepine (CBZ) prepararion di... more Pharmacokiiieiic properties and efficacy of a conventional (C) carbamazepine (CBZ) prepararion divided into three daily doses and a slow-release CBZ preparation (SR) divided into two daily doses were evaluated in a randomized, doubleblind, cross-over study. The trial started with a 8-weck baseline period followed by the rwo treatment periods each 10 weeks long. At the end of each period, a 24-h blood sample series for determination of serum CBZ and carbamazepine-10,11-epoxide (CBZE] was collected. The occurrence of seizures was monitored day and night during the whole study period by experienced nurses. The mean age of the 20 evaluable patients was 249 and the duration of epilepsy 19 2 and carbainazepine treatment 70 years. The bioavailability of CBZ from the two preparations was similar. The mean fluctuation of serum CBZ concentration (Cn,as
Individuals with Down syndrome (DS) have a predisposition to leukaemia and testicular cancer, but... more Individuals with Down syndrome (DS) have a predisposition to leukaemia and testicular cancer, but data on the incidence of cancers are yet sparse. A cohort of 3,581 persons with DS was identified from a National Registry of Finnish persons with intellectual disability collected between 1978 and 1986 and followed-up for cancer incidence until 2002. Standardised incidence ratios (SIRs) were defined as ratios of observed number of cancer cases to those expected from the national cancer incidence rates, by age and sex. The overall cancer risk was equal to that of the general population, but a significantly high risk of leukaemia (SIR 10.5, CI 95% 6.6-15.8) and testicular cancer (SIR4.8, CI 95% 1.8-10.4) was found.
Int. Journal of Clinical Pharmacology and Therapeutics, 2011
This study aims to investigate the alteration of iron homeostasis and oxidative stress status in ... more This study aims to investigate the alteration of iron homeostasis and oxidative stress status in epilepsy patients treated with valproic acid (VPA) monotherapy. 24 epilepsy patients receiving VPA monotherapy (12 men, 12 women, age 27.5 ± 7.2 y) and 24 sex- and age-matched healthy volunteers were included in the study. The level of iron status parameters; serum iron, ferritin, transferrin saturation, non-transferrin bound iron (NTBI), serum level of trace elements (copper, zinc and selenium), concentration of antioxidant parameters, activities of antioxidant enzymes and level of lipid peroxidation product were determined. NTBI was found in the patients although their other iron status parameters were normal. Levels of antioxidant parameters were decreased while activities of antioxidant enzymes were increased. Levels of serum MDA were significantly increased in patients with epilepsy. The daily dose of valproic acid associated was statistically significant: serum concentration of NTBI (r = 0.579; p = 0.003) and MDA (r = 0.465; p = 0.022). A positive correlation existed between NTBI and zinc (r = 0.522; p = 0.009). According to our results, VPA treatment in patients with epilepsy contributes to the metabolism of iron, leading to the formation of NTBI and an increase in oxidative stress.
Background In the national study of multiple registers in 2000, the average prevalence of intelle... more Background In the national study of multiple registers in 2000, the average prevalence of intellectual disability (ID) was 0.70%, with marked differences by age group (range 0.38-0.96%)-what are these differences in detail, and can they be understood? Method This study was based on two national health registers and six social benefit registers. Prevalence of ID was calculated by 1-year age cohorts. Results The multiple register prevalence of ID increased steadily from 0.20% in the first life year to 0.74% (male: 0.90%, female: 0.58%) at 10 years. For boys, the rate fell to 0.71% at 11 years. For both sexes, a steady increase was noted in the distribution up to 40 years (male: 0.84%, female: 0.73%), followed by a sharper increase to the maximum prevalence (male: 1.19% at 48 years, female: 1.05% at 50 years). At the pension age of 66 years, a sudden drop to 0.49% occurred for men and women. Different registers gave very different age distributions. Conclusions By examining the data by 1-year age cohorts, and by understanding the role of each register , it could be deduced that a proportion of cases in younger age groups is lacking, and a remarkable proportion of elderly ID persons is missing from the pooled data. The findings were more difficult to interpret, if the data were grouped into bigger age groups.
Sjögren's syndrome (SS) in its classical form, which includes kerato-conj... more Sjögren's syndrome (SS) in its classical form, which includes kerato-conjunctivitis sicca, xerostomia and recurrent enlargement of the salivary glands, is associated with a connective tissue disease in at least half the patients.
The relationship between poor health and cognitive impairment is not fully understood yet. People... more The relationship between poor health and cognitive impairment is not fully understood yet. People with Down syndrome are prone to a number of health problems, including congenital heart defect, visual impairment, hearing loss, autoimmune diseases, epilepsy, early-onset Alzheimer's disease and intellectual disability. Our aim was to assess the impact of impaired health on cognitive performance in people with Down syndrome. A series of people with Down syndrome (n=129) were studied for their intellectual disability, sensory impairments and health concerns. The medical and psychological records of all persons with Down syndrome in the Intellectual Disability Service Register of Kainuu from 1970 to 2004 were analysed. The detected health issues were related to the individuals' cognitive levels. Visual impairment, poor dental health and acute neurological disease were associated with the severity of intellectual disability and ageing.
We studied quantitative electroencephalogram and neuropsychological performance in an aging serie... more We studied quantitative electroencephalogram and neuropsychological performance in an aging series of 31 patients with Down's syndrome and compared the findings with those of 36 patients with probable Alzheimer's disease and age-matched controls. We found an age-related decline of cortical functions and slowing of the electroencephalogram in Down's syndrome patients aged from 20 to 60 years. Slowing of the electroencephalogram, i.e. the decrease of the peak frequency, was significantly related to Mini-Mental status scores, and visual, praxic and speech functions, as well as memory in the Down patients, similar to the Alzheimer patients. Similar correlations were not demonstrated for young or elderly controls. This study provides neuropsychological and electrophysiological data to suggest that studying Down's syndrome patients of different ages can serve as a model for progression of Alzheimer's disease.
Background Many studies have evaluated the prevalence of intellectual disability (ID) by focusing... more Background Many studies have evaluated the prevalence of intellectual disability (ID) by focusing on different ages during childhood and adolescence. Although the prevalence of ID is higher in older age groups, how cumulative prevalence increases, and what level it reaches before adulthood, remains unclear. Method We used Care Register for Health Care to retrieve information on individuals born in 1996-2007 with any of the inclusion diagnoses of ID (F7 group and/or aetiological diagnoses) for the period 1996 to 2013. The cumulative prevalence was calculated as percentages for every age based on Finnish population data. Results The registration of new diagnoses of ID continued steadily throughout the developmental years. The cumulative prevalence reached 1.19% by age 17.5 among those born in 1996. Later-born age groups appeared to receive their first ID diagnoses earlier in childhood. Those born in 1999 reached a cumulative prevalence of 1.21% already by age 14.5. Of all those with ID, 67% had an F7 diagnosis only, 42% had an aetiological diagnosis only and 9% had both diagnoses. Conclusions Cumulative prevalence of ID by year, until the age of 18, will provide a better estimate and understanding of the prevalence of ID than a point prevalence at any one point during the developmental years.
The present authors made an attempt to ease the diagnostic work of physicians who have patients w... more The present authors made an attempt to ease the diagnostic work of physicians who have patients with intellectual disability by creating an aetiological classification system based on the time and mechanism of injury to the central nervous system (CNS). The current paper presents the work-up needed for understanding at least the timing of the causative factor/factors. The timing principle opens a direct course to family counselling. This method has been very well accepted during its 18 years of use in Finland, and therefore, it was felt that it would be helpful to organize the relevant ICD-10 diagnoses according to the timing principle. This method has been published as a manual. An image of a tree became the obvious metaphor for this system. The genetic category forms the main root and stem, from which multiple branched roots and limbs emerge. The individual diagnoses appear as root nodules and leaves. The system is flexible, making it possible to add new branches for groups of diagnoses when improved diagnostic methods create these options (e.g. microdeletions). The aetiological diagnoses change accordingly. Over the course of further development, new incidents damaging the CNS may affect the functional level of an individual and require additional diagnoses. It is a constant challenge for physicians to keep the diagnoses of their patients up to date. The image of the tree helps professionals to think in terms of timing, and thus, makes family counselling easier. It is also helpful in the education of medical professionals.
Clinical guidelines exist for the treatment of chronic epilepsy and epilepsy in women 2. This pub... more Clinical guidelines exist for the treatment of chronic epilepsy and epilepsy in women 2. This publication provides guidance for the clinician investigating and managing epilepsy in adults who have an intellectual disability as defined by an Intelligence Quotient (IQ) of less than 70, onset in the developmental period and difficulties with adaptive functioning.
Journal of Intellectual Disability Research, Jun 28, 2008
Pharmacokiiieiic properties and efficacy of a conventional (C) carbamazepine (CBZ) prepararion di... more Pharmacokiiieiic properties and efficacy of a conventional (C) carbamazepine (CBZ) prepararion divided into three daily doses and a slow-release CBZ preparation (SR) divided into two daily doses were evaluated in a randomized, doubleblind, cross-over study. The trial started with a 8-weck baseline period followed by the rwo treatment periods each 10 weeks long. At the end of each period, a 24-h blood sample series for determination of serum CBZ and carbamazepine-10,11-epoxide (CBZE] was collected. The occurrence of seizures was monitored day and night during the whole study period by experienced nurses. The mean age of the 20 evaluable patients was 249 and the duration of epilepsy 19 2 and carbainazepine treatment 70 years. The bioavailability of CBZ from the two preparations was similar. The mean fluctuation of serum CBZ concentration (Cn,as
Individuals with Down syndrome (DS) have a predisposition to leukaemia and testicular cancer, but... more Individuals with Down syndrome (DS) have a predisposition to leukaemia and testicular cancer, but data on the incidence of cancers are yet sparse. A cohort of 3,581 persons with DS was identified from a National Registry of Finnish persons with intellectual disability collected between 1978 and 1986 and followed-up for cancer incidence until 2002. Standardised incidence ratios (SIRs) were defined as ratios of observed number of cancer cases to those expected from the national cancer incidence rates, by age and sex. The overall cancer risk was equal to that of the general population, but a significantly high risk of leukaemia (SIR 10.5, CI 95% 6.6-15.8) and testicular cancer (SIR4.8, CI 95% 1.8-10.4) was found.
Int. Journal of Clinical Pharmacology and Therapeutics, 2011
This study aims to investigate the alteration of iron homeostasis and oxidative stress status in ... more This study aims to investigate the alteration of iron homeostasis and oxidative stress status in epilepsy patients treated with valproic acid (VPA) monotherapy. 24 epilepsy patients receiving VPA monotherapy (12 men, 12 women, age 27.5 ± 7.2 y) and 24 sex- and age-matched healthy volunteers were included in the study. The level of iron status parameters; serum iron, ferritin, transferrin saturation, non-transferrin bound iron (NTBI), serum level of trace elements (copper, zinc and selenium), concentration of antioxidant parameters, activities of antioxidant enzymes and level of lipid peroxidation product were determined. NTBI was found in the patients although their other iron status parameters were normal. Levels of antioxidant parameters were decreased while activities of antioxidant enzymes were increased. Levels of serum MDA were significantly increased in patients with epilepsy. The daily dose of valproic acid associated was statistically significant: serum concentration of NTBI (r = 0.579; p = 0.003) and MDA (r = 0.465; p = 0.022). A positive correlation existed between NTBI and zinc (r = 0.522; p = 0.009). According to our results, VPA treatment in patients with epilepsy contributes to the metabolism of iron, leading to the formation of NTBI and an increase in oxidative stress.
Background In the national study of multiple registers in 2000, the average prevalence of intelle... more Background In the national study of multiple registers in 2000, the average prevalence of intellectual disability (ID) was 0.70%, with marked differences by age group (range 0.38-0.96%)-what are these differences in detail, and can they be understood? Method This study was based on two national health registers and six social benefit registers. Prevalence of ID was calculated by 1-year age cohorts. Results The multiple register prevalence of ID increased steadily from 0.20% in the first life year to 0.74% (male: 0.90%, female: 0.58%) at 10 years. For boys, the rate fell to 0.71% at 11 years. For both sexes, a steady increase was noted in the distribution up to 40 years (male: 0.84%, female: 0.73%), followed by a sharper increase to the maximum prevalence (male: 1.19% at 48 years, female: 1.05% at 50 years). At the pension age of 66 years, a sudden drop to 0.49% occurred for men and women. Different registers gave very different age distributions. Conclusions By examining the data by 1-year age cohorts, and by understanding the role of each register , it could be deduced that a proportion of cases in younger age groups is lacking, and a remarkable proportion of elderly ID persons is missing from the pooled data. The findings were more difficult to interpret, if the data were grouped into bigger age groups.
Sjögren's syndrome (SS) in its classical form, which includes kerato-conj... more Sjögren's syndrome (SS) in its classical form, which includes kerato-conjunctivitis sicca, xerostomia and recurrent enlargement of the salivary glands, is associated with a connective tissue disease in at least half the patients.
The relationship between poor health and cognitive impairment is not fully understood yet. People... more The relationship between poor health and cognitive impairment is not fully understood yet. People with Down syndrome are prone to a number of health problems, including congenital heart defect, visual impairment, hearing loss, autoimmune diseases, epilepsy, early-onset Alzheimer's disease and intellectual disability. Our aim was to assess the impact of impaired health on cognitive performance in people with Down syndrome. A series of people with Down syndrome (n=129) were studied for their intellectual disability, sensory impairments and health concerns. The medical and psychological records of all persons with Down syndrome in the Intellectual Disability Service Register of Kainuu from 1970 to 2004 were analysed. The detected health issues were related to the individuals' cognitive levels. Visual impairment, poor dental health and acute neurological disease were associated with the severity of intellectual disability and ageing.
We studied quantitative electroencephalogram and neuropsychological performance in an aging serie... more We studied quantitative electroencephalogram and neuropsychological performance in an aging series of 31 patients with Down's syndrome and compared the findings with those of 36 patients with probable Alzheimer's disease and age-matched controls. We found an age-related decline of cortical functions and slowing of the electroencephalogram in Down's syndrome patients aged from 20 to 60 years. Slowing of the electroencephalogram, i.e. the decrease of the peak frequency, was significantly related to Mini-Mental status scores, and visual, praxic and speech functions, as well as memory in the Down patients, similar to the Alzheimer patients. Similar correlations were not demonstrated for young or elderly controls. This study provides neuropsychological and electrophysiological data to suggest that studying Down's syndrome patients of different ages can serve as a model for progression of Alzheimer's disease.
Background Many studies have evaluated the prevalence of intellectual disability (ID) by focusing... more Background Many studies have evaluated the prevalence of intellectual disability (ID) by focusing on different ages during childhood and adolescence. Although the prevalence of ID is higher in older age groups, how cumulative prevalence increases, and what level it reaches before adulthood, remains unclear. Method We used Care Register for Health Care to retrieve information on individuals born in 1996-2007 with any of the inclusion diagnoses of ID (F7 group and/or aetiological diagnoses) for the period 1996 to 2013. The cumulative prevalence was calculated as percentages for every age based on Finnish population data. Results The registration of new diagnoses of ID continued steadily throughout the developmental years. The cumulative prevalence reached 1.19% by age 17.5 among those born in 1996. Later-born age groups appeared to receive their first ID diagnoses earlier in childhood. Those born in 1999 reached a cumulative prevalence of 1.21% already by age 14.5. Of all those with ID, 67% had an F7 diagnosis only, 42% had an aetiological diagnosis only and 9% had both diagnoses. Conclusions Cumulative prevalence of ID by year, until the age of 18, will provide a better estimate and understanding of the prevalence of ID than a point prevalence at any one point during the developmental years.
The present authors made an attempt to ease the diagnostic work of physicians who have patients w... more The present authors made an attempt to ease the diagnostic work of physicians who have patients with intellectual disability by creating an aetiological classification system based on the time and mechanism of injury to the central nervous system (CNS). The current paper presents the work-up needed for understanding at least the timing of the causative factor/factors. The timing principle opens a direct course to family counselling. This method has been very well accepted during its 18 years of use in Finland, and therefore, it was felt that it would be helpful to organize the relevant ICD-10 diagnoses according to the timing principle. This method has been published as a manual. An image of a tree became the obvious metaphor for this system. The genetic category forms the main root and stem, from which multiple branched roots and limbs emerge. The individual diagnoses appear as root nodules and leaves. The system is flexible, making it possible to add new branches for groups of diagnoses when improved diagnostic methods create these options (e.g. microdeletions). The aetiological diagnoses change accordingly. Over the course of further development, new incidents damaging the CNS may affect the functional level of an individual and require additional diagnoses. It is a constant challenge for physicians to keep the diagnoses of their patients up to date. The image of the tree helps professionals to think in terms of timing, and thus, makes family counselling easier. It is also helpful in the education of medical professionals.
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Papers by Markus Kaski