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  • 1. Bergström-Isacsson, Märith
    et al.
    Lagerkvist, Bengt
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Holck, Ulla
    Gold, Christian
    How facial expressions in a Rett syndrome population are recognised and interpreted by those around them as conveying emotions2013Ingår i: Research in Developmental Disabilities, ISSN 0891-4222, E-ISSN 1873-3379, Vol. 34, nr 2, s. 788-794Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Rett syndrome (RTT) is a neurodevelopmental disorder, including autonomic nervous system dysfunctions and severe communication impairment with an extremely limited ability to use verbal language. These individuals are therefore dependent on the capacity of caregivers to observe and interpret communicative signals, including emotional expressions. People in general, including therapists tend to focus on changes in facial expressions to interpret a person's emotional state or choices, but with this population it is difficult to know if the interpretations are correct. The aims of this study were to investigate if the Facial Action Coding System (FACS) could be used to identify facial expressions, and differentiate between those that expressed emotions and those that were elicited by abnormal brainstem activation in RTT. The sample comprised 29 participants with RTT and 11 children with a normal developmental pattern, exposed to six different musical stimuli during non-invasive registration of autonomic brainstem functions. The results indicate that FACS makes it possible both to identify facial expressions and to differentiate between those that stem from emotions and those caused by abnormal brainstem activation. This knowledge may be a great help to an uninitiated observer, who otherwise might incorrectly interpret the latter as an expression of emotion.

  • 2. Bergström-Isacsson, Märith
    et al.
    Lagerkvist, Bengt
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Holck, Ulla
    Gold, Christian
    Neurophysiological responses to music and vibroacoustic stimuli in Rett syndrome2014Ingår i: Research in Developmental Disabilities, ISSN 0891-4222, E-ISSN 1873-3379, Vol. 35, nr 6, s. 1281-1291Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    People with Rett syndrome (RTT) have severe communicative difficulties. They have as well an immature brainstem that implies dysfunction of the autonomic nervous system. Music plays an important role in their life, is often used as a motivating tool in a variety of situations and activities, and caregivers are often clear about people with RTTs favourites. The aim of this study was to investigate physiological and emotional responses related to six different musical stimuli in people with RTT. The study included 29 participants with RTT who were referred to the Swedish Rett Center for medical brainstem assessment during the period 2006-2007. 11 children with a typical developmental pattern were used as comparison. A repeated measures design was used, and physiological data were collected from a neurophysiological brainstem assessment. The continuous dependent variables measured were Cardiac Vagal Tone (CVT), Cardiac Sensitivity to Baroreflex (CSB), Mean Arterial Blood Pressure (MAP) and the Coefficient of Variation of Mean Arterial Blood Pressure (MAP-CV). These parameters were used to categorise brainstem responses as parasympathetic (calming) response, sympathetic (activating) response, arousal (alerting) response and unclear response. The results showed that all participants responded to the musical stimuli, but not always in the expected way. It was noticeable that both people with and without RTT responded with an arousal to all musical stimuli to begin with. Even though the initial expressions sometimes changed after some time due to poor control functions of their brainstem, the present results are consistent with the possibility that the RTT participants' normal responses to music are intact. These findings may explain why music is so important for individuals with KIT throughout life. 

  • 3.
    Blomqvist, Sven
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering, Sjukgymnastik.
    Olsson, Josefine
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering, Sjukgymnastik.
    Wallin, Louise
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering, Sjukgymnastik.
    Wester, Anita
    Rehn, Börje
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering, Sjukgymnastik.
    Adolescents with intellectual disability have reduced postural balance and muscle performance in trunk and lower limbs compared to peers without intellectual disability2013Ingår i: Research in Developmental Disabilities, ISSN 0891-4222, E-ISSN 1873-3379, Vol. 34, nr 1, s. 198-206Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    For adolescent people with ID, falls are more common compared to peers without ID. However, postural balance among this group is not thoroughly investigated. The aim of this study was to compare balance and muscle performance among adolescents aged between 16 and 20 years with a mild to moderate intellectual disability (ID) to age-matched adolescents without ID. A secondary purpose was to investigate the influence of vision, strength, height and Body Mass Index (BMI) on balance. A group of 100 adolescents with ID and a control group of 155 adolescents without ID were investigated with five balance tests and three strength tests: timed up and go test, one leg stance, dynamic one leg stance, modified functional reach test, force platform test, counter movement jump, sit-ups, and Biering-Sorensen trunk extensor endurance test. The results showed that adolescents with an ID in general had significantly lower scores in the balance and muscle performance tests. The group with ID did not have a more visually dominated postural control compared to the group without ID. Height, BMI or muscle performance had no strong correlations with balance performance. It appears as if measures to improve balance and strength are required already at a young age for people with an ID. 

  • 4.
    Larsson, Gunilla
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering. Swedish National Rett Center, Frösön, Sweden.
    Julu, Peter O. O.
    Engerström, Ingegerd Witt
    Sandlund, Marlene
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering.
    Lindström, Britta
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering.
    Walking on treadmill with Rett syndrome: effects on the autonomic nervous system2018Ingår i: Research in Developmental Disabilities, ISSN 0891-4222, E-ISSN 1873-3379, Vol. 83, s. 99-107Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    People with Rett syndrome have deficient central autonomic control, which may interfere with walking. We have limited knowledge regarding the effects of exertion during physical activity in Rett syndrome. The aim was to investigate the autonomic responses during walking on a treadmill in Rett syndrome. Twenty-six females, 12 with Rett syndrome and 14 healthy females were included. All individuals started on the treadmill by standing still, followed by walking slowly with progressive speed until reaching maximum individual speed, which they kept for 6 min. Heart rate (HR), systolic (SBP), diastolic (DBP), mean arterial blood pressures (MAP), cardiac vagal tone (CVT), cardiac sensitivity to baroreflex (CSB), transcutaneous partial pressures of oxygen (pO2), carbon dioxide (pCO2), and breathing movements were recorded simultaneously and continuously. Autonomic responses were assessed by MAP, CSB and CVT during walking at 3 and 6 min. The changes in CSB and CVT in people with Rett syndrome compared to controls indicated more arousal, but only when the treadmill was started; as they continued walking, the arousal dropped to control level. People with Rett syndrome exhibited little changes in pCO2 whereas the controls showed increased values during walking. This suggests poor aerobic respiration in people with Rett syndrome during walking. Five people with Rett syndrome had Valsalva type of breathing at rest, three of those had normal breathing while walking on the treadmill while the remaining two started but soon stopped the Valsalva breathing during the walk. Our results show that individuals with Rett syndrome can walk for up to 6 min at their own maximum sustainable speed on a treadmill. Energy production may be low during walking in Rett syndrome, which could cause early tiredness. A treadmill can be used in people with Rett syndrome, but must be introduced slowly and should be individually tailored. We propose that walking promotes regular breathing in Rett syndrome.

  • 5.
    Larsson, Gunilla
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering, Sjukgymnastik. Swedish Rett Center, Jämtland County Council, Östersund, Sweden.
    Julu, Peter O.O.
    Breakspear Medical Group, Hertfordshire, UnitedKingdom.
    Witt Engerström, Ingegerd
    RettCenter, Jämtland CountyCouncil, Östersund, Sweden.
    Sandlund, Marlene
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering, Sjukgymnastik.
    Lindström, Britta
    Umeå universitet, Medicinska fakulteten, Institutionen för samhällsmedicin och rehabilitering, Sjukgymnastik.
    Normal reactions to orthostatic stress in Rett syndrome2013Ingår i: Research in Developmental Disabilities, ISSN 0891-4222, E-ISSN 1873-3379, Vol. 34, nr 6, s. 1897-1905Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    The aim of this study was to investigate orthostatic reactions in females with Rett syndrome (RTT), and also whether the severity of the syndrome had an impact on autonomic reactions. Based on signs of impaired function of the central autonomic system found in RTT, it could be suspected that orthostatic reactions were affected. The orthostatic reactions in 21 females with RTT and 14 normally developed femalesmatched by age were investigated when they rose from a sitting position, and during standing for 3 min. Reactions of the heart, the blood pressure and the time for recovery of systolic blood pressure, were studied in real time, heartbeat by heartbeat, simultaneously. There was no difference between participants with RTT and the normally developed controls regarding general orthostatic reactions (heart rate, systolic and diastolic blood pressure, and mean arterial pressure) when getting up from a sitting position, and when standing erect for 3min. In the specific immediate response by the heart to standing up, the 30:15 ratio, significantly lower values were found for females with RTT. In the RTT group, the maximum fall of systolic blood pressure showed a tendency to a larger decrease, and the initial decrease in systolic blood pressure was significantly faster. The time for recovery of systolic blood pressure from standing erect did not differ between groups. At baseline the females with RTT had significantly lower systolic blood pressure and a tendency to a higher heart rate. The results do not indicate any autonomic limitations for people with RTT in getting up from a sitting position and standing. The participants with RTT had normal orthostatic reactions indicated by the heart and blood pressure responses when standing erect for 3 min. A faster initial drop in systolic blood pressure in people with RTT was notable.

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