Maria W.G. Nijhuis-van der Sanden

Quantitative muscle ultrasound is a promising longitudinal follow-up tool in Duchenne muscular dystrophy.

Responsive outcome measures are needed to follow the disease status of Duchenne muscular dystrophy (DMD) patients, as new therapeutic approaches become available for affected boys. Quantitative muscle ultrasound (QMUS) is potentially an attractive follow up tool for DMD because it reflects the severity of the dystrophic process without the need for invasive procedures, by quantifying echo intensity (i.e., mean grey level of muscle images) and muscle thickness. We performed a longitudinal follow-up of lower and upper extremity QMUS in 18 DMD patients and compared this with physical functioning in 11 of these patients. QMUS could be performed in every patient, and no patient was subjected to more than a total of 20min of ultrasound scanning time for this study. As expected we found a significant increase of echo intensity with age, reflecting increasing dystrophic muscle changes. This increase was related to ambulatory status, functional grading, muscle strength and motor ability. Our study establishes QMUS as a practical and child-friendly tool for the longitudinal follow up of DMD patients.

Efficacy of occupational therapy for patients with Parkinson's disease: a randomised controlled trial

BACKGROUND There is insufficient evidence to support use of occupational therapy interventions for patients with Parkinsons disease. We aimed to assess the efficacy of occupational therapy in improving daily activities of patients with Parkinsons disease. METHODS We did a multicentre, assessor-masked, randomised controlled clinical trial in ten hospitals in nine Dutch regional networks of specialised health-care professionals (ParkinsonNet), with assessment at 3 months and 6 months. Patients with Parkinsons disease with self-reported difficulties in daily activities were included, along with their primary caregivers. Patients were randomly assigned (2:1) to the intervention or control group by a computer-generated minimisation algorithm. The intervention consisted of 10 weeks of home-based occupational therapy according to national practice guidelines; control individuals received usual care with no occupational therapy. The primary outcome was self-perceived performance in daily activities at 3 months, assessed with the Canadian Occupational Performance Measure (score 1-10). Data were analysed using linear mixed models for repeated measures (intention-to-treat principle). Assessors monitored safety by asking patients about any unusual health events during the preceding 3 months. This trial is registered with ClinicalTrials.gov, NCT01336127. FINDINGS Between April 14, 2011, and Nov 2, 2012, 191 patients were randomly assigned to the intervention group (n=124) or the control group (n=67). 117 (94%) of 124 patients in the intervention group and 63 (94%) of 67 in the control group had a participating caregiver. At baseline, the median score on the Canadian Occupational Performance Measure was 4·3 (IQR 3·5-5·0) in the intervention group and 4·4 (3·8-5·0) in the control group. At 3 months, these scores were 5·8 (5·0-6·4) and 4·6 (4·6-6·6), respectively. The adjusted mean difference in score between groups at 3 months was in favour of the intervention group (1·2; 95% CI 0·8-1·6; p<0·0001). There were no adverse events associated with the study. INTERPRETATION Home-based, individualised occupational therapy led to an improvement in self-perceived performance in daily activities in patients with Parkinsons disease. Further work should identify which factors related to the patient, environmental context, or therapist might predict which patients are most likely to benefit from occupational therapy. FUNDING Prinses Beatrix Spierfonds and Parkinson Vereniging.

Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome

Abstract. The Sjögren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterised clinically by congenital ichthyosis, mental retardation and spasticity. Patients also suffer from severe pruritus. The degradation of leukotriene (LT) B4 is one of the defective metabolic routes in SLS. Zileuton inhibits the synthesis of LTB4 and the cysteinyl leukotrienes. Five SLS patients were treated with zileuton for 3 months. Favourable effects were found on pruritus score (P=0.006), general well-being, and background activity of electroencephalographic studies. Neuropsychological test results did not change significantly. There was, however, a clinically important trend towards improvement in the speed of information processing. Results of cerebral MRI and proton magnetic resonance spectroscopy did not change during therapy. Urinary concentrations of LTB4 and ω-OH-LTB4 decreased significantly (P=0.02 and P=0.003 respectively), while their concentrations in CSF were normal at baseline and remained so after therapy. Conclusion: patients with Sjögren-Larsson syndrome might benefit from treatment with zileuton, especially with respect to the agonising pruritus. The findings reported here, point to a crucial role for leukotriene B4 in the pathogenesis of pruritus.

Physical Exercise for Patients Undergoing Hematopoietic Stem Cell Transplantation: Systematic Review and Meta-Analyses of Randomized Controlled Trials

Background The treatment-related burden for patients undergoing hematopoietic stem cell transplantation (HSCT) may be relieved by physical exercises. Purpose The purpose of this study was to summarize and analyze the evidence provided by randomized controlled trials (RCTs) on physical exercise interventions among patients with cancer undergoing HSCT. Data Sources PubMed, CINAHL, EMBASE, the Cochrane Library, and PEDro were searched for relevant RCTs up to October 1, 2011. Study Selection Two reviewers screened articles on inclusion criteria and indentified relevant RCTs. Data Extraction Two authors assessed the selected articles for risk of bias. Data extraction was performed by 1 reviewer. Meta-analyses were undertaken to estimate the outcomes quality of life (QOL), psychological well-being and distress, and fatigue. Data Synthesis Eleven studies were included, with study populations consisting of recipients undergoing either an allogeneic or autologous HSCT (n=734). Four studies had low risk of bias. The exercise interventions were performed before, during, and after hospitalization for the HSCT. Different exercise programs on endurance, resistance and/or activities of daily living training, progressive relaxation, and stretching were used. Meta-analyses showed that exercise during hospitalization led to a higher QOL (weighted mean difference=8.72, 95% confidence interval=3.13, 14.31) and less fatigue (standardized mean difference=0.53, 95% confidence interval=0.16, 0.91) in patients with an allogeneic HSCT at the moment of discharge from the hospital. No marked effects were found for psychological well-being and distress. Individual study results suggested significant positive effects on QOL, fatigue, psychological well-being and distress, and physical functioning. Limitations Prevalent shortcomings in the included studies were the heterogeneity among studies and the lack of blinding of participants, personnel, and outcome assessment. Conclusions The results suggest that recipients of HSCT may benefit from physical exercise.

Action planning in typically and atypically developing children (unilateral cerebral palsy)

In the present study, we investigated the development of action planning in children with unilateral Cerebral Palsy (CP, aged 3-6 years, n=24) and an age matched control group. To investigate action planning, participants performed a sequential movement task. They had to grasp an object (a wooden play sword) and place the sword in a hole in a wooden block. Our main dependent variable was the grip type that participants used, i.e., did they adapt their initial grip choice such that they would reach a comfortable posture at the end of the action? This end-state comfort effect has been abundantly shown in research on action planning, and is taken as evidence for anticipatory planning. The first aim of the study was to investigate the development of action planning in the unilateral CP group and the control group. Our hypothesis was that action planning improves with age in the control group, but not in the unilateral CP group. The results showed that planning was impaired in the unilateral CP group compared with the control group. Consistent with our hypothesis, we found an age effect in the control group, but not in the unilateral CP group. In the control group 5 and 6 years olds showed more anticipatory planning compared with the 3 and 4 years olds. The second aim of this study was to examine whether an intervention for children with unilateral CP (i.e., constrained induced movement therapy combined with bimanual training) affected action planning. The children with unilateral CP were therefore measured on the experimental task before and after an 8-week intervention period. The results showed that planning improved after the intervention. This finding suggests that action planning ability in young children with unilateral CP may be sensitive to improvement. These findings are discussed within the context of typical and atypical development of action planning and further guidelines for intervention in children with unilateral CP are given.

Follow-up of newborns treated with extracorporeal membrane oxygenation: a nationwide evaluation at 5 years of age

IntroductionExtracorporeal membrane oxygenation (ECMO) is a supportive cardiopulmonary bypass technique for babies with acute reversible cardiorespiratory failure. We assessed morbidity in ECMO survivors at the age of five years, when they start primary school and major decisions for their school careers must be made.MethodsFive-year-old neonatal venoarterial-ECMO survivors from the two designated ECMO centres in The Netherlands (Erasmus MC – Sophia Childrens Hospital in Rotterdam, and University Medical Center Nijmegen) were assessed within the framework of an extensive follow-up programme. The protocol included medical assessment, neuromotor assessment, and psychological assessment by means of parent and teacher questionnaires.ResultsSeventeen of the 98 children included in the analysis (17%) were found to have neurological deficits. Six of those 17 (6% of the total) showed major disability. Two of those six children had a chromosomal abnormality. Three were mentally retarded and profoundly impaired. The sixth child had a right-sided hemiplegia. These six children did not undergo neuromotor assessment. Twenty-four of the remaining 92 children (26%) showed motor difficulties: 15% actually had a motor problem and 11% were at risk for this. Cognitive delay was identified in 11 children (14%). The mean IQ score was within the normal range (IQ = 100.5).ConclusionNeonatal ECMO in The Netherlands was found to be associated with considerable morbidity at five years of age. It appeared feasible to have as many as 87% of survivors participate in follow-up assessment, due to cooperation between two centres and small travelling distances. Objective evaluation of the long-term morbidity associated with the application of this highly invasive technology in the immediate neonatal period requires an interdisciplinary follow-up programme with nationwide consensus on timing and actual testing protocol.

A review of neuropsychological and motor studies in Turner Syndrome

We reviewed the literature on Turner Syndrome (TS) from 1962 until March 2003 with respect to the following questions: Is there a consistent pattern of cognitive and/or motor dysfunction in TS girls and if so, is there an explanation for the disturbance? Many studies indicate that girls with TS have a disharmonic IQ profile: a verbal IQ that seems to be at a (nearly) normal level and a decreased PIQ. This profile remains into adulthood. Visual-spatial problems are mentioned most frequently and there is some evidence for a relationship to particular neuro-anatomical structures, hormonal dysfunction, and genotype. Although much less research has been done on motor performance in TS, there is clear evidence that it is disturbed too in TS. Many authors emphasize the interaction between somatic, psychological and social factors, but we did not find a clear theoretical framework explaining this relationship. We argue that there may be two independent problems: a visuospatial and a motor deficit possible related to specific genotypes and both have implications for functioning in daily life.

Motor performance in five-year-old extracorporeal membrane oxygenation survivors: A population-based study

IntroductionVeno-arterial extracorporeal membrane oxygenation (VA-ECMO) is a cardio-pulmonary bypass technique to provide life support in acute reversible cardio-respiratory failure when conventional management is not successful. Most neonates receiving ECMO suffer from meconium aspiration syndrome (MAS), congenital diaphragmatic hernia (CDH), sepsis or persistent pulmonary hypertension (PPH). In five-year-old children who underwent VA-ECMO therapy as neonates, we assessed motor performance related to growth, intelligence and behaviour, and the association with the primary diagnosis.MethodsIn a prospective population-based study (n = 224) 174 five-year-old survivors born between 1993 and 2000 and treated in the two designated ECMO centres in the Netherlands (Radboud University Medical Centre Nijmegen and Sophia Childrens Hospital, Erasmus MC – University Medical Center Rotterdam) were invited to undergo follow-up assessment including a paediatric assessment, the movement assessment battery for children (MABC), the revised Amsterdam intelligence test (RAKIT) and the child behaviour checklist (CBCL).ResultsTwenty-two percent of the children died before the age of five, 86% (n = 149) of the survivors were assessed. Normal development in all domains was found in 49% of children. Severe disabilities were present in 13%, and another 9% had impaired motor development combined with cognitive and/or behavioural problems. Chi-squared tests showed adverse outcome in MABC scores (P < 0.001) compared with the reference population in children with CDH, sepsis and PPH, but not in children with MAS. Compared with the Dutch population height, body mass index (BMI) and weight for height were lower in the CDH group (P < 0.001). RAKIT and CBCL scores did not differ from the reference population. Total MABC scores, socio-economic status, growth and CBCL scores were not related to each other, but negative motor outcome was related to lower intelligence quotient (IQ) scores (r = 0.48, P < 0.001).ConclusionsThe ECMO population is highly at risk for developmental problems, most prominently in the motor domain. Adverse outcome differs between the primary diagnosis groups. Objective evaluation of long-term developmental problems associated with this highly invasive technology is necessary to determine best evidence-based practice. The ideal follow-up programme requires an interdisciplinary team, the use of normal-referenced tests and an international consensus on timing and actual outcome measurements.

Evidence-based clinical practice update: practice guidelines for anterior cruciate ligament rehabilitation based on a systematic review and multidisciplinary consensus.

Aim The Royal Dutch Society for Physical Therapy (KNGF) instructed a multidisciplinary group of Dutch anterior cruciate ligament (ACL) experts to develop an evidence statement for rehabilitation after ACL reconstruction. Design Clinical practice guideline underpinned by systematic review and expert consensus. Data sources A multidisciplinary working group and steering group systematically reviewed the literature and wrote the guideline. MEDLINE and the Cochrane Library were searched for meta-analyses, systematic reviews, randomised controlled trials and prospective cohort studies published between January 1990 and June 2015. Eligibility criteria for selecting studies Included literature must have addressed 1 of 9 predetermined clinical topics: (1) preoperative predictors for postoperative outcome, (2) effectiveness of physical therapy, (3) open and closed kinetic chain quadriceps exercises, (4) strength and neuromuscular training, (5) electrostimulation and electromyographic feedback, (6) cryotherapy, (7) measurements of functional performance, (8) return to play and (9) risk for reinjury. Summary Ninety studies were included as the basis for the evidence statement. Rehabilitation after ACL injury should include a prehabilitation phase and 3 criterion-based postoperative phases: (1) impairment-based, (2) sport-specific training and (3) return to play. A battery of strength and hop tests, quality of movement and psychological tests should be used to guide progression from one rehabilitation stage to the next. Postoperative rehabilitation should continue for 9–12 months. To assess readiness to return to play and the risk for reinjury, a test battery, including strength tests, hop tests and measurement of movement quality, should be used.

Motor problems in Prader-Willi syndrome: a systematic review on body composition and neuromuscular functioning.

Motor problems in Prader-Willi syndrome (PWS) are presumably related to abnormal body composition and certain neuromuscular abnormalities. The authors reviewed the literature to evaluate the extent to which body composition is affected and gathered all findings on neuromuscular functioning in PWS. A systematic review was conducted in four databases (1956-2010). The methodological quality of each included article was evaluated. Thirty-eight papers were included: body composition (9 studies), neuromuscular functioning (7) and growth hormone (GH) effect studies (23). Increased fat mass and decreased lean body mass are characteristics of PWS. As a result, muscle mass is decreased by 25-37%, which might explain partly the weakness and hypotonia. However, there are also structural and functional muscle abnormalities, and cortical motor areas are hypo-excitable in PWS patients. Moreover, disuse as result of decreased activity in PWS could also contribute. GH treatment positively influences body composition, but does not normalize it. Training could prevent disuse and improves body composition. Therefore GH treatment and training will probably enhance one another.