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Dive into the research topics where Louise Tofts is active.

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Featured researches published by Louise Tofts.


Archives of Disease in Childhood | 2015

Joint hypermobility syndrome subclassification in paediatrics: a factor analytic approach

Verity Pacey; Roger Adams; Louise Tofts; Craig Munns; Leslie L. Nicholson

Objective To determine if exploratory factor analysis can identify subtypes comprising recognisable clinical patterns of the presenting signs and symptoms of children with joint hypermobility syndrome (JHS). Patients Eighty-nine children with JHS aged 6–16 years. Methods Twelve tests comprising anthropometric, musculoskeletal and functional assessments were conducted. Signs, symptoms and family history were recorded. Exploratory factor analysis was performed, factor scores generated, and correlations calculated to identify associations. Results Sixty-six percent of the variance in the score set could be accounted for by five JHS subtypes (Eigenvalues >1). Factor 1, ‘joint affected’ JHS, had loadings on multiple joint pain, recurrent joint instability and postural orthostatic hypotension symptoms, and factor scores were associated with worse pain (r=0.48, p<0.01), fatigue (r=−0.54, p<0.01) and reduced health-related quality of life (HRQOL) (r=−0.5, p<0.01). Factor 2, ‘athletic’ JHS, loaded on muscle endurance, balance and motor skill proficiency, and scores were associated with less fatigue (r=0.3, p<0.01) and better HRQOL (r=0.44, p<0.01). Factor 3, ‘systemic’ JHS, loaded on skin involvement, incontinence symptoms, bowel involvement and recurrent joint instability, and was associated with reduced HRQOL (r=−0.24, p=0.03). Factor 4, ‘soft tissue affected’ JHS, loaded on recurrent soft tissue injuries and reduced muscle length, and was associated with greater fatigue (r=−0.43, p<0.01) and reduced HRQOL (r=−0.44, p<0.0001). Factor 5, ‘high BMI’ JHS, had high loadings on body mass index (BMI) for age, muscle endurance and no gastrointestinal involvement, and was associated with higher pain (r=0.33, p<0.01). Conclusions The presenting signs and symptoms of children with JHS can be summarised in five clinically recognisable subtypes.


Journal of Paediatrics and Child Health | 2015

Quality of life prediction in children with joint hypermobility syndrome

Verity Pacey; Louise Tofts; Roger Adams; Craig Munns; Leslie L. Nicholson

To assess the child‐ and parent‐reported health‐related quality of life (HRQOL) of children with joint hypermobility syndrome (JHS), to compare these with other chronic paediatric conditions and to determine whether symptoms experienced by children with JHS can predict their HRQOL.


Journal of Paediatrics and Child Health | 2014

Joint hypermobility syndrome: A review for clinicians

Verity Pacey; Louise Tofts; Alison Wesley; Felicity Collins; Davinder Singh-Grewal

The term ‘joint hypermobility’ describes synovial joints that move beyond a normal range of motion. ‘Joint hypermobilty syndrome’ may also be associated with significant symptoms and impaired quality of life. The purpose of this review is to help the generalist to recognise the condition, exclude significant alternative diagnoses and understand the multidisciplinary approach to management.


Arthritis Care and Research | 2017

Generalized Hyperalgesia in children and adults diagnosed with Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility type: a discriminative analysis

Mark C. Scheper; Verity Pacey; Lies Rombaut; Roger Adams; Louise Tofts; Patrick Calders; Leslie L. Nicholson; Raoul H.H. Engelbert

Lowered pressure‐pain thresholds have been demonstrated in adults with Ehlers‐Danlos syndrome hypermobility type (EDS‐HT), but whether these findings are also present in children is unclear. Therefore, the objectives of the study were to determine whether generalized hyperalgesia is present in children with hypermobility syndrome (HMS)/EDS‐HT, explore potential differences in pressure‐pain thresholds between children and adults with HMS/EDS‐HT, and determine the discriminative value of generalized hyperalgesia.


Pediatric Rheumatology | 2013

Exercise in children with joint hypermobility syndrome and knee pain: a randomised controlled trial comparing exercise into hypermobile versus neutral knee extension

Verity Pacey; Louise Tofts; Roger Adams; Craig Munns; Leslie L. Nicholson

BackgroundKnee pain in children with Joint Hypermobility Syndrome (JHS) is traditionally managed with exercise, however the supporting evidence for this is scarce. No trial has previously examined whether exercising to neutral or into the hypermobile range affects outcomes. This study aimed to (i) determine if a physiotherapist-prescribed exercise programme focused on knee joint strength and control is effective in reducing knee pain in children with JHS compared to no treatment, and (ii) whether the range in which these exercises are performed affects outcomes.MethodsA prospective, parallel-group, randomised controlled trial conducted in a tertiary hospital in Sydney, Australia compared an 8 week exercise programme performed into either the full hypermobile range or only to neutral knee extension, following a minimum 2 week baseline period without treatment. Randomisation was computer-generated, with allocation concealed by sequentially numbered opaque sealed envelopes. Knee pain was the primary outcome. Quality of life, thigh muscle strength, and function were also measured at (i) initial assessment, (ii) following the baseline period and (iii) post treatment. Assessors were blinded to the participants’ treatment allocation and participants blinded to the difference in the treatments.ResultsChildren with JHS and knee pain (n=26) aged 7-16 years were randomly assigned to the hypermobile (n=12) or neutral (n=14) treatment group. Significant improvements in child-reported maximal knee pain were found following treatment, regardless of group allocation with a mean 14.5 mm reduction on the visual analogue scale (95% CI 5.2 – 23.8 mm, p=0.003). Significant differences between treatment groups were noted for parent-reported overall psychosocial health (p=0.009), specifically self-esteem (p=0.034), mental health (p=0.001) and behaviour (p=0.019), in favour of exercising into the hypermobile range (n=11) compared to neutral only (n=14). Conversely, parent-reported overall physical health significantly favoured exercising only to neutral (p=0.037). No other differences were found between groups and no adverse events occurred.ConclusionsParents perceive improved child psychosocial health when children exercise into the hypermobile range, while exercising to neutral only is perceived to favour the child’s physical health. A physiotherapist prescribed, supervised, individualised and progressed exercise programme effectively reduces knee pain in children with JHS.Trial registrationAustralia & New Zealand Clinical Trials Registry; ACTRN12606000109505.


Pediatric Rheumatology | 2014

Proprioceptive acuity into knee hypermobile range in children with Joint Hypermobility Syndrome

Verity Pacey; Roger Adams; Louise Tofts; Craig Munns; Leslie L. Nicholson

BackgroundChildren with Joint Hypermobility Syndrome (JHS) have reduced knee joint proprioceptive acuity compared to peers. Altered proprioception at end of range in individuals with JHS is hypothesised to contribute to recurrent joint injuries and instability. This study aims to provide the first objective comparison of functional knee joint proprioceptive acuity in hyperextension range compared to early flexion range in children with JHS.MethodsActive, weight-bearing knee joint proprioceptive acuity in both hyperextension and early flexion range was tested with a purpose-built device. Proprioceptive acuity was measured using the psychophysical method of constant stimuli to determine ability to discriminate between the extents of paired active movements made to physical stops. The smallest difference in knee range of motion that the child is able to correctly judge on at least 75% of occasions, the Just Noticeable Difference (JND), was calculated using Probit analysis. Knee pain, muscle strength, amount of physical activity and patient demographic data were collected.ResultsTwenty children aged 8–16 years with JHS and hypermobile knees participated. Eleven children demonstrated better proprioceptive acuity in flexion, and 9 in hyperextension (z = 0.45, p = 0.63). Matched pairs t-test found no significant difference in children’s ability to discriminate between the same extents of movement in the hyperextension or flexion directions (mean JND difference 0.11°, 95% CI -0.26° - 0.47°, p = 0.545). However, 3 children could not discriminate movements in hyperextension better than chance. Proprioceptive acuity scores were positively correlated between the two directions of movement (r = 0.55, p = 0.02), with no significant correlations found between proprioceptive acuity and age, degree of hypermobility, muscle strength, pain level, amount of physical activity or body mass index centile (r = -0.35 to -0.03, all p ≥ 0.13).ConclusionFor a group of children with JHS involving hypermobile knees, there was no significant difference between knee joint proprioceptive acuity in early flexion and in hypermobile range when measured by a functional, active, weight-bearing test. Therefore, when implementing a proprioceptive training programme, clinicians should focus training throughout knee range, including into hyperextension. Further research is needed to determine factors contributing to pain and instability in hypermobile range.


Rheumatology | 2017

The natural history of children with joint hypermobility syndrome and Ehlers–Danlos hypermobility type: a longitudinal cohort study

Mark C. Scheper; Lesley L. Nicholson; Roger Adams; Louise Tofts; Verity Pacey

Objectives The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. Methods One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints. Cluster analysis was performed to identify subgroups in severity. Clinical profiles were determined for these subgroups, and differences were assessed by multivariate analysis of covariance. Mixed linear regression models were used to determine the subsequent trajectories. Finally, an exploratory factor analysis was used to uncover the underlying constructs of functional impairment. Results Three clusters of children were identified in terms of functional impairment: mild, moderately and severely affected. Functional impairment at baseline was predictive of worsening trajectories in terms of reduced walking distance and decreased quality of life (P ⩽ 0.05) over 3 years. Multiple interactions between the secondary outcomes were observed, with four underlying constructs identified. All four constructs (multi-systemic effects, pain, fatigue and loss of postural control) contributed significantly to disability (P ⩽ 0.046). Conclusion Children diagnosed with JHS/EDS-HT who have a high incidence of multi-systemic complaints (particularly, orthostatic intolerance, urinary incontinence and diarrhoea) and poor postural control in addition to high levels of pain and fatigue at baseline are most likely to have a deteriorating trajectory of functional impairment and, accordingly, warrant clinical prioritization.


American Journal of Medical Genetics Part A | 2017

Growth charts for Australian children with achondroplasia

Louise Tofts; Sandeep Das; Felicity Collins; Karen L. O. Burton

Achondroplasia is an autosomal dominant disorder, the most common genetic cause of short stature in humans. Reference curves for head circumference, weight, height, and BMI are needed in clinical practice but none exist for the Australian population. This study aimed to produce head circumference, height, weight, and BMI reference percentile curves for Australian children and adolescents with achondroplasia. Measurements of head circumference, height and weight taken at clinical visits were retrospectively extracted from the electronic medical record. Age was corrected for prematurity. Patients were excluded from head circumference analysis if they had significant neurosurgical complications and from the weight and BMI analysis when they had a clinical diagnosis of overweight. Measurements were available on 138 individuals (69 males and 69 females) taken between 1970 and 2015, with over 50% collected since 2005. A total of 3,352 data points were available. The LMS method was used to produce growth charts with estimated centiles (10, 25, 50, 75, and 90th) separately for males and females. For females birth weight was 3 kg (2.5–3.5 kg), birth length 48 cm (44–50 cm) and head circumference 37.5 cm (36–39 cm), adult height was 125 cm (116–132 cm), weight 42 kg (34–54 kg), and head circumference 58 cm (55.5–60.5 cm) all 50th centile (10–90th). For males birth weight was 3.5 kg (3–4 kg), length 49 cm (46–52 cm) and head circumference 38.5 cm (36–41 cm), adult height was 134 cm (125–141 cm), weight 41 kg (24.5–57 kg) and head circumference 61 cm (58–64 cm). The curves are similar to previously published reference data from the USA and have expected population wide variation from curves from an Argentinian population. Despite limitations of our curves for adolescents (12 years and older) due to data paucity, these Australian growth charts for children and adolescents with achondroplasia will be a useful reference in clinical practice.


Journal of Orthopaedic & Sports Physical Therapy | 2017

Physical and Psychosocial Characteristics of Current Child Dancers and Nondancers With Systemic Joint Hypermobility: A Descriptive Analysis

Leslie L. Nicholson; Roger Adams; Louise Tofts; Verity Pacey

• STUDY DESIGN: Cross‐sectional study. • BACKGROUND: The effect of current participation in dance training on joint pain and instability, fatigue, and quality of life is unknown. • OBJECTIVES: To examine differences in joint pain, instability, gross motor skills, nonmusculoskeletal systemic manifestations, health‐related quality of life (HRQoL), and fatigue between children with joint hypermobility syndrome/Ehlers‐Danlos syndrome‐hypermobility type (JHS/EDS‐HT) who currently undertake formal dance training and those who do not. • METHODS: Children with JHS/EDS‐HT and 1 parent completed reports providing data on demographic variables, symptoms, organized activity participation, HRQoL, and fatigue. Physical and functional measures included extent of hypermobility, aerobic fitness, balance, and muscle endurance. • RESULTS: Of the 102 participating children, 22 currently undertook dance classes, averaging 3.3 h/wk. While the dancers reported a number of painful joints similar to that reported by nondancers (mean ± SD, 5.5 ± 3.7 versus 6.4 ± 3.9 joints, respectively; P = .36), they reported significantly lower pain levels on a 0‐to‐10 scale (3.8 ± 3.3 versus 5.6 ± 3.4, P = .04) and found pain to be less problematic, affecting less of their body. They reported fewer unstable joints (1.0 ± 1.0 versus 2.0 ± 1.8 joints, P = .001), despite being more hypermobile (Beighton score, 7.3 ± 1.4 versus 6.6 ± 1.6 on a 9‐point scale, P = .047; Lower Limb Assessment Score, 9.2 ± 2.0 versus 8.1 ± 1.9 on a 12‐point scale, P = .02). The dancers had significantly better HRQoL in the subdomain of school functioning (P = .004) and reported less fatigue (P = .024). • CONCLUSION: Children with JHS/EDS‐HT who are currently undertaking formal dance training have fewer joint pain and instability symptoms, less fatigue, and better HRQoL; however, the crosssectional nature of the study means that causation cannot be determined. • LEVEL OF EVIDENCE: Therapy, level 2b.


American Journal of Medical Genetics Part A | 2016

The neuropsychological function of children with achondroplasia.

Kimberley Wigg; Louise Tofts; Suzanne Benson; Melanie A. Porter

The current observational study had three specific objectives: (i) to document any neuropsychological impairment in a sample of children with achondroplasia; (ii) to explore individual variability; and (iii) to determine the functional impact of any impairments. Fourteen children aged between 6 and 15 years with a medically confirmed diagnosis of achondroplasia (FGFR 3 mutation positive) underwent a comprehensive standardized neuropsychological evaluation. On average, while generally still within normal limits, significantly lower scores compared to standardized means were identified on: Full‐scale IQ, verbal IQ, working memory, arithmetic, attention, executive functioning and aspects of day‐to‐day emotional, social, and behavioral functioning. Clinically significant levels of impairment at a group level were identified on measures of: arithmetic, attention, and executive functioning. There was variability among the group and for most measures scores ranged from impaired to within normal limits. A high percentage of children were impaired on measures of: verbal IQ, attention and executive functioning. Results of this study suggest a need for individual neuropsychological evaluation and monitoring of children with achondroplasia and suggest verbal IQ, arithmetic, attention, and executive functioning are particularly common areas of impairment.

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Verity Pacey

Children's Hospital at Westmead

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Craig Munns

Children's Hospital at Westmead

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Felicity Collins

Children's Hospital at Westmead

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Alison Wesley

Children's Hospital at Westmead

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David Sillence

Children's Hospital at Westmead

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