Assessment of sleep in children with mucopolysaccharidosis type III.

Sleep disturbances are prevalent in mucopolysaccharidosis Type III (MPS III), yet there is a lack of objective, ecologically valid evidence detailing sleep quantity, quality or circadian system. Eight children with MPS III and eight age-matched typically developing children wore an actigraph for 7-10 days/nights. Saliva samples were collected at three time-points on two separate days, to permit analysis of endogenous melatonin levels. Parents completed a sleep questionnaire and a daily sleep diary. Actigraphic data revealed that children with MPS III had significantly longer sleep onset latencies and greater daytime sleep compared to controls, but night-time sleep duration did not differ between groups. In the MPS III group, sleep efficiency declined, and sleep onset latency increased, with age. Questionnaire responses showed that MPS III patients had significantly more sleep difficulties in all domains compared to controls. Melatonin concentrations showed an alteration in the circadian system in MPS III, which suggests that treatment for sleep problems should attempt to synchronise the sleep-wake cycle to a more regular pattern. Actigraphy was tolerated by children and this monitoring device can be recommended as a measure of treatment success in research and clinical practice.

An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III.

BACKGROUND: Mucopolysaccharidosis type-III (MPS III) is an autosomal recessive lysosomal storage disorder. It causes progressive physical and cognitive decline and has been linked to increased incidences of behavioural problems. METHODS: Data on the behaviour and adaptive skills of 20 children with MPS III and 25 children with intellectual disability (ID) (17 included in analysis) were gathered via parental report questionnaire. The frequencies of different types of behaviour displayed by children with MPS III and children with ID were compared across two age categories. RESULTS: The total frequency of challenging behaviours displayed by children aged 2-9 years with MPS III and ID was not significantly different. Behaviours associated with hyperactivity, orality, unusual body movements and inattention were seen significantly more frequently in 2-9 year olds with MPS III than in those with ID. Children aged 10-15 years with MPS III showed significantly fewer problem behaviours than a contrasting group with ID. The frequency of challenging behaviours displayed by children with MPS III and their adaptive skills was found to decrease with age. CONCLUSIONS: Behaviours relating to hyperactivity, orality, unusual body movements and inattention are part of the behavioural phenotype of the middle phase of MPS III. The late phase of MPS III is associated with low rates of problem behaviour and loss of adaptive skills. Therefore, families with a child with MPS III may benefit from a different type of clinical service when the child is aged 2-9 years, than when aged 10-15 years.

Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID).

Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of four enzymes involved in the catabolism of the glycosaminoglycan heparan sulphate. It is a degenerative disorder, with a progressive decline in children's intellectual and physical functioning. There is currently no cure for the disorder. To date there is a paucity of research on how this disorder impacts parents psychological functioning. Specifically, research in the area has failed to employ adequate control groups to assess if the impact of this disorder on parents psychological functioning differs from parenting a child with intellectual disability (ID). The current study examined child behaviour and parental psychological functioning in 23 parents of children with MPS III and 23 parents of children with ID. Parents completed postal questionnaires about their child's behaviour and abilities and their own psychological functioning. Parents of children with MPS III reported fewer behavioural difficulties as their child aged, more severe level of intellectual disability, and similar levels of perceived social support, coping techniques, stress, anxiety and depression levels as parents of children with ID. Both groups of parents scored above the clinical cut off for anxiety and depression. Parents of children with MPS III rated themselves as significantly less future-orientated and goal directed than parents of children with ID. Services should develop support packages for parents of children with MPS III that incorporate an understanding of the unique stressors and current-difficulty approach of this population. Future research should examine gender differences between parental psychological functioning, using mixed qualitative and quantitative approaches, and utilise matched developmental level and typically developing control groups.

The influence of inspiratory muscle work history and specific inspiratory muscle training upon human limb muscle fatigue.

The purpose of this study was to assess the influence of the work history of the inspiratory muscles upon the fatigue characteristics of the plantar flexors (PF). We hypothesized that under conditions where the inspiratory muscle metaboreflex has been elicited, PF fatigue would be hastened due to peripheral vasoconstriction. Eight volunteers undertook seven test conditions, two of which followed 4 week of inspiratory muscle training (IMT). The inspiratory metaboreflex was induced by inspiring against a calibrated flow resistor. We measured torque and EMG during isometric PF exercise at 85% of maximal voluntary contraction (MVC) torque. Supramaximal twitches were superimposed upon MVC efforts at 1 min intervals (MVC(TI)); twitch interpolation assessed the level of central activation. PF was terminated (T(lim)) when MVC(TI) was <50% of baseline MVC. PF T(lim) was significantly shorter than control (9.93 +/- 1.95 min) in the presence of a leg cuff inflated to 140 mmHg (4.89 +/- 1.78 min; P = 0.006), as well as when PF was preceded immediately by fatiguing inspiratory muscle work (6.28 +/- 2.24 min; P = 0.009). Resting the inspiratory muscles for 30 min restored the PF T(lim) to control. After 4 weeks, IMT, inspiratory muscle work at the same absolute intensity did not influence PF T(lim), but T(lim) was significantly shorter at the same relative intensity. The data are the first to provide evidence that the inspiratory muscle metaboreflex accelerates the rate of calf fatigue during PF, and that IMT attenuates this effect.

Inspiratory muscle fatigue in swimmers after a single 200 m swim.

Inspiratory muscle fatigue may occur in as little as 6 min during high-intensity spontaneously breathing exercise. The aims of this study were to determine whether inspiratory muscle fatigue occurs during swimming exercise and whether inspiratory muscle strength differs between the supine and standing body positions. Seven competitive swimmers were recruited to perform a single 200 m front-crawl swim, corresponding to 90-95% of race pace. Inspiratory muscle strength was measured at residual volume using a hand-held mouth pressure meter that measured maximal inspiratory pressure in the upright and supine positions. At baseline, maximal inspiratory pressure in the supine position was significantly lower than maximal inspiratory pressure in the upright position (112 +/- 20.4 and 133 +/- 16.7 cmH2O, respectively; P < or = 0.01). Post-exercise maximal inspiratory pressure in the supine position (80 +/- 15.7 cmH2O) was significantly lower than baseline maximal inspiratory pressure in the supine position (P < or = 0.01). The results indicate that a single 200 m front-crawl swim corresponding to 90-95% of race pace was sufficient to induce inspiratory muscle fatigue in less than 2.7 min. Furthermore, although diaphragm muscle length is optimized when supine, our results indicate that the force output of the diaphragm and inspiratory accessory muscles is greater when upright than when supine.