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Biomedical subjects

Markus Kaski

Publications and source records attributed to Markus Kaski.

9 recordsLinked to original sources
PubMed2006

Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.

Sleep disturbances are common in many progressive metabolic encephalopathies. The possible presence of disturbed sleep-wake behaviour in the lysosomal storage disorder aspartylglucosaminuria, has not been previously studied, however. The sleep-wake behaviour of 81 patients with aspartylglucosaminuria (AGU, age 3-55 years, median 22 years; 42 female and 39 male) and 49 controls (age 2-57 years, median 18 years; 25 female and 24 male) was assessed through a postal survey. A slightly modified version of the validated Basic Nordic Sleep Questionnaire was used. Fifty-eight per cent of the AGU patients were reported to suffer daily from a sleep-related problem (controls 31%, p < 0.01). In AGU adults (age >17 years) and children (age < or =17 years), the corresponding figures were 52% and 61%, respectively (control children 22%, p < 0.05 and control adults 38%, p = 0.06). In AGU children, settling difficulties were reported to occur significantly more commonly than in control children. Children with AGU were also reported to snore more often than were the controls. Adults with this disorder were found to suffer from severely fragmented night-time sleep, which was experienced as highly distressing by the parents and other caregivers. A long night sleep period was reported to be common in the ageing AGU patients (AGU 9.5 +/- 1.7 vs controls 7.2 +/- 1.0 h, mean +/- SD, p < 0.001). Parents and caregivers also often complained about disturbing movements during sleep in AGU patients. In conclusion, both children and adults with aspartylglucosaminuria were reported to display several types of sleep disturbances significantly more commonly than healthy controls.

Acetylglucosamine↗
PubMed2006

Cancer incidence of persons with Down syndrome in Finland: a population-based study.

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.

Adolescent↗
PubMed2006

Mental health, behaviour and intellectual abilities of people with Down syndrome.

The mental health, adaptive behaviour and intellectual abilities of people with Down syndrome (n=129) were evaluated in a population-based survey of social and health care records. Females had better cognitive abilities and speech production compared with males. Males had more behavioural problems than females. Behaviour suggestive of attention deficit hyperactivity disorder was often seen in childhood. Depression was diagnosed mainly in adults with mild to moderate intellectual disability. Autistic behaviour was most common in individuals with profound intellectual disability. Elderly people often showed decline of adaptive behaviour associated with Alzheimer's disease. Case descriptions are presented to illustrate the multitude of mental health and behavioural issues seen from childhood to old age in this population.

Adaptation, Psychological↗
PubMed2006

Sensory impairments and health concerns related to the degree of intellectual disability in people with Down syndrome.

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.

Aged↗
PubMed2006

[Not Available].

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Journal Article↗
PubMed2004

Wrist actigraphy in estimation of sleep and wake in intellectually disabled subjects with motor handicaps.

BACKGROUND AND PURPOSE: We studied the applicability of wrist actigraphy to sleep-wake estimation in patients with motor handicaps. PATIENTS AND METHODS: Concomitant polysomnographic and actigraphic recordings (16-24 h) were compared in three groups: normally moving subjects with normal sleep (n=10), sleep-disordered subjects without motor handicaps (n=13) and sleep-disordered patients with different motor disabilities (n=16). The motor abilities of the subjects were determined by clinical evaluation using a grading scale from 0 to 10. Their actual daily activity was calculated from the recordings as average activity scores. RESULTS: In the healthy subjects, the mean difference between actigraphic and polysomnographic total sleep estimation was negligible (-1 min), while in both sleep-disordered groups, sleep was highly overestimated by actigraphy. There was a significant correlation between the motor ability score and the discrepancy between actigraphy and polysomnography, but individual data points were highly scattered. A more consistent correlation was found between the average activity score/min in actigrams and the discrepancy of actigraphic with polysomnographic total sleep estimation (Spearman's r=-0.58, P=0.0001, n=39). When the recordings with very low average activity score were rejected from the analyses (two patients without and six with motor handicaps), the overestimation of sleep by actigraphy was reduced but it still remained in both sleep-disordered groups. The mean differences of total sleep between actigraphy and polysomnography were 72 and 121 min and the rank order correlation coefficients 0.80 and 0.71 in patients without and with motor handicaps, respectively. The median discrepancy in total sleep estimation was 6% in both sleep-disordered groups. CONCLUSIONS: In subjects with rudimentary motor abilities, a standard actigraphy can produce a signal, which is related to the amount of sleep scored in polysomnograms. The sleep parameters obtained by the two methods are not equal, however. The inspection of actigrams is more reliable than the clinical scaling of motor abilities in predicting the applicability of wrist actigraphy.

Adult↗
PubMed2003

Automatic blink detection: a method for differentiation of wake and sleep of intellectually disabled and healthy subjects in long-term ambulatory monitoring.

OBJECTIVES: To develop a method for automatic detection of blinks in electrooculograms and to evaluate reliability of blink rate as an indicator of wake and sleep in subjects with developmental brain disorders. DESIGN: Categorization of wake and sleep by blink rate was compared with visual sleep scoring of the polysomnograms. SETTING: Ambulatory polysomnographic recordings at home or in the sleep laboratory. PARTICIPANTS: Nine healthy volunteers for calibration, 10 for validation; 7 intellectually disabled patients for calibration, 10 for validation of the method. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Blinks were detected from electrooculograms using a weighted finite impulse response median hybrid filtering and the criterion of minimum duration at amplitude threshold. More than 80% of the visually identified electrooculographic blinks were detected in most subjects. When 30-second epochs of electrooculograms with 1 or more blinks were defined as wake and those without blinks as sleep, the average agreement with polysomnographic scoring was 95% in healthy subjects and 84% in patients. The mismatch was mostly due to the 30-second epochs without blinks during waking. A contextual redefinition of wake and sleep by expanding the inspected electrooculographic span from 1 to 20 epochs (10 minutes) increased the agreement to 93% in patients. The agreement is comparable to that of actigraphy with polysomnography. The linear correlation coefficient of the proportions of sleep epochs between visual scoring and the contextual blink rate method was 0.869. The main sleep periods detected by the blink-rate method were an average of 7 minutes longer than those determined by visual scoring. This was caused by differences in the detection of sleep onsets: blinking ceased before the first stage 1 sleep period was scored. The absolute period lengths obtained by the 2 methods did not differ significantly from each other in unpaired t-tests, and the linear correlation between the values was 0.999. CONCLUSIONS: The blinks extracted from the electrooculographic signal can be used to reliably determine the main sleep and wake periods in both healthy subjects and patients with developmental brain disorders.

Adult↗
PubMed2002

Sleep fragmentation in mentally retarded people decreases with increasing daylength in spring.

We studied the sleep-wake behavior of mentally retarded people from late winter to early summer at 60 degrees N. During this time the daylength increased 8 h 51 min. The data were collected by observing the sleep-wake status of 293 subjects at 20-min intervals for five randomized 24h periods (= recording days). The intervals during which the individual recording days of the same order (1st, 2nd, etc.) were carried out, were called recording periods. Consequently, there were five recording periods, each containing 293 individual recording days. Even though there was overlap among the recording periods, the median daylength from one period to another increased approximately by 100 min. In the initial statistical analysis, the number of wake-sleep transitions was found to differ significantly among the five recording periods (Friedman test, p < 0.001). The mean ranks in the Friedman test suggested that the number of wake-sleep transitions was highest during the 1st and lowest during the 5th recording period. In further statistical analyses using a program for mixed effects regression analysis (MIXOR 2.0) it was found that the increase in daylength during the study period was associated with a simultaneous decrease of approximately 0.5 wake-sleep transitions in the whole study population (p < 0.001). The decrease in the number of wake-sleep transitions was significant only in the subgroups of subjects with a daylength change of more than 350 min between the 1st and 5th recording days (Wilcoxon tests, p < 0.005). This suggests that after a marked prolongation of the natural photoperiod, the reduction in sleep episodes was more probable than after smaller changes in daylength. It is concluded that the sleep of mentally retarded people living in a rehabilitation center at a northern latitude is more fragmented in winter than in early summer and that the change is related probably to the simultaneous increase in the length of the natural photoperiod. The sleep quality of persons living in institutional settings might be improved by increasing the intensity and/or duration of daily artificial light exposure during the darker seasons.

Adolescent↗