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Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

Downs, J., Leonard, H., Wong, K., Newton, N., & Hill, K. Developmental Medicine & Child Neurology. 2017 Jun;59(6):605-611. doi:10.1111/dmcn.13398. Epub 2017 Feb 6

Artikeln beskriver aktivitetsnivån i gående för olika åldrar

Abstract

Aim: To quantify, in individuals with Rett syndrome with the capacity to walk, walking-based activity and sedentary time, and to analyse the influences of age, walking ability, scoliosis, and the severity of epilepsy.

Sixty-four participants with a mean age of 17 years and 7 months (standard deviation [SD] 9y) were recruited from the Australian Rett Syndrome Database for this cross-sectional study. Each participant wore a StepWatch Activity Monitor for at least 4 days. Linear regression models were used to assess relationships between daily step count and the proportion of waking hours spent in sedentary time with the covariates of age group, walking ability, presence of scoliosis, and frequency of seizures.

Results: On average, 62% (SD 19%) of waking hours were sedentary and 20% (SD 8%) was at cadences lower than or equal to 20 steps in a minute. The median daily steps count was 5093 (interquartile range 2026-8602). Compared with females younger than 13 years of age and accounting for the effects of covariates, adults took fewer steps, and both adolescents and adults had more sedentary time.

Interpretation: Adolescents and adults led the least active lives and would appear to be in particular need of interventions aiming to optimize slow walking-based physical activity and reduce sedentary time.

 

Sleep in Angelman syndrome: A review of evidence

Spruyt K, et al., Sleep Medicine Reviews (2017), http://dx.doi.org/10.1016/j.smrv.2017.01.002

Abstract

Angelman syndrome-AS, is defined as a neurogenetic disorder with a prevalence of 1:10000–20000 worldwide. The main features are severe intellectual disability, speech impairment, ataxia, epilepsy, sleep disorder and a behavioral phenotype: happy disposition, attraction to or fascination with water and hyper-motoric behavior. The abnormal sleep-wake cycles and diminished need for sleep is a known feature in Angelman syndrome and influences all family members during the day. Caregivers of Angelman syndrome patients report that even up to 72% of individuals with AS have ‘sleep dysfunction’. Angleman sleep studies show that there is reduced sleep duration, increased sleep onset latency, disrupted sleep architecture with frequent nocturnal awakenings, reduced rapid eye movement (REM) sleep and periodic leg movements. The purpose of the present study was to provide information on sleep in individuals with AS.

Methods: Methods of searches, selection of studies, data extraction and quality assessment were specified and limited to Angelman syndrome sleep studies. ‘Sleep’ was categorized into sleep quantity (duration or architecture), sleep quality (problems or disorders), regularity (bedtime schedule, circadian rhythm), sleepiness, sleep hygiene, sleep ecology and sleep treatment. Statistical analyses were performed. Half of the studies were performed in the USA and 42.9% were performed in Europe. The sample size ranged from 1 to 339 individuals with AS (on average 62.35 ± 110.91) within the age-range of 2-44 years. Overall gender was nearly equally distributed, i.e., 49.4 ± 26.23% males.

Results and conclusion: This review and meta-analysis confirms the presence of sleep problems in individuals with AS. Results demonstrated disorders of arousal (nightmares, night terrors and fearful dreams) and sleepiness during the day. The polysomnography studies showed shorter total sleep time, sleep onset latency, wake after sleep onset and poorer sleep efficiency, however short sleep duration and poor sleep efficiency were the most prominent findings. One study reported a higher degree of sleep problems when using anti-convulsant drugs and underlined the role of epilepsy in exacerbating the sleep problems. It was also suggested that low endogenous melatonin levels in individuals with AS. Some individuals loose response to their melatonin treatment whilst high levels of melatonin remain present during the day. Several examples of sleep complaints that may obscure the distinctive feature of an arousal-sleepiness problem are: sleep hyperhidrosis, which may co-occur with an awakening or with regard to the sensitivity to the environment, especially the complaint of ‘is awakened by loud noises’ is prominent. Also ‘unreported’ sleep problems in individuals with AS might excist, like enuresis, bruxism, somnambulism and snoring. Epileptic arousal might also come into question. A thalamocortical dysfunction might excist, resulting from dysregulation of synaptic GABAergic neurotransmission. It was also shown that some part of the problematic sleeping of the individual with AS was associated with poor parental sleep, daytime somnolence and higher parental stress. Therefore a detailed sleep assessment of the individual with AS may benefit the entire family. Future studies need to excel former methodologies (i.e., adept sleep assessment) and more detailed sample descriptions/analysis in order to generate disability-specific sleep problems and treatments in individuals with AS.

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