A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
tone and motor problems; ataxia; ataxia telangectasia; pharmacologic intervention; betamethasone;
No controlled studies exist regarding the pharmaceutical reduction of ataxia symptoms in ataxia telangiectasia (A-T). In a multicenter, double-blind, randomized, placebo-controlled crossover trial, oral betamethasone (BETA) and placebo were compared in terms of their reduction of ataxia symptoms as assessed with the International Cooperative Ataxia Rating Scale (ICARS). In this study of 13 A-T children, betamethasone reduced the ICARS total score by a median of 13 points in the intent-to-treat population and 16 points in the per-protocol population (ie, median percent decreases of ataxia symptoms of 28% and 31%, respectively). In conclusion, Oral betamethasone could be a promising therapy to relieve ataxia symptoms in A-T patients; however, long-term effectiveness and safety must be established. (Current Controlled Trials, number ISRCTN08774933). © 2012 Movement Disorder Society.
Zannolli R; Buoni S; Betti G; Salvucci S; Plebani A; Soresina A; Pietrogrande M C; Martino S; Leuzzi V; Finocchi A; Micheli R; Rossi L N; Brusco A; Misiani F; Fois A; Hayek J; Kelly C; Chessa L
Movement Disorders
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/mds.25126" target="_blank" rel="noreferrer noopener">10.1002/mds.25126</a>
Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome
Adolescent; Adult; Age; Factors; Behavior; Child; Preschool; Female; Humans; Infant; Male; Rubinstein-Taybi Syndrome/di [Diagnosis]; Surveys and Questionnaires; Young Adult; behavioral problems; Rubinstein-Taybi Syndrome; trajectory; characteristics; anxiety; depression; aggression; aggressive behavior
Rubinstein-Taybi syndrome (RTS) is characterized by developmental delay, postnatal growth retardation, typical facial appearance, and broad thumbs and big toes. The behavioral phenotype of children with RTS has been described as friendly and having good social contacts; however, a short attention span and hyperactivity are sometimes present. Little attention has been paid to the behavioral aspects of adults with RTS. We conducted an observational study focusing on behavioral problems in adolescents and adults with RTS compared with children with RTS. A total of 63 patients with RTS and their caretakers answered self-administered questionnaires regarding behavioral features including the Child Behavior Checklist (CBCL). High total CBCL scores were observed, and the mean score was beyond the clinical cut-off point. After stratification into two groups according to age, the older group (>14 years) displayed statistically significant higher scores for Anxious/Depression (P = 0.002) and Aggressive Behavior (P = 0.036) than the younger group (<13 years). In analyses of single items, statistically significant differences between the younger group and the older group were found for 'Nervous, high-strung, or tense' (31.3% vs 67.7%, P = 0.004) and 'Too fearful or anxious' (37.5% vs 64.5%, P = 0.032). Here, we showed that the specific behavioral phenotypes of RTS change during adolescence, with anxiety, mood instability, and aggressive behavior emerging as patients age. A clear need exists to follow-up patients with RTS to catch the eventual emergence of psychiatric problems with age. If necessary, pharmacological treatment should be considered.Copyright © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.
Yagihashi T; Kosaki K; Okamoto N; Mizuno S; Kurosawa K; Takahashi T; Sato Y; Kosaki R
Congenital Anomalies
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/j.1741-4520.2012.00356.x" target="_blank" rel="noreferrer noopener">10.1111/j.1741-4520.2012.00356.x</a>
Responsiveness of the motor function measure in neuromuscular diseases
Middle Aged; Male; Aged; Mobility Limitation; Young Adult; Child; Humans; Adult; Prospective Studies; Adolescent; Perception; Female; Disability Evaluation; Motor Skills; Physical Therapy Modalities; Muscular Dystrophy Duchenne/physiopathology/rehabilitation; Neuromuscular Diseases/physiopathology/rehabilitation; tone and motor problems; SMA1; Q3 conditions; tool development; scale development; motor function measure; MFM
OBJECTIVES: To study the responsiveness (sensitivity to change) of the Motor Function Measure (MFM) in detecting change in neuromuscular disease patients with the intent of using this measure in future clinical trials. DESIGN: Prospective cohort observational study. SETTING: Inpatient and outpatient facilities for follow-up and treatment of neuromuscular diseases. PARTICIPANTS: Patients (N=152) with various neuromuscular diseases aged 6 to 60 years. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE(S): We used the MFM total score and its 3 subscores on 2 measurements grossly 1 year apart. The physicians and the patients (or proxy) were asked to provide their perceived change in functional status since the first MFM. These changes were expressed in 3 outcomes: deterioration, stability, or improvement. RESULTS: The overall 12-month-standardized mean change of the total score mean +/- SD annual total score change was -2.4+/-5.5 points (P<.001), with patients with Duchenne muscular dystrophy (DMD) presenting the most significant change (-5.8+/-6.3, P<.001). The change in patients reporting deterioration (34%) was significantly larger than that of those reporting stability (47%) or improvement (10%) (-4.4+/-6.4 vs -2.0+/-5.6 and +0.9+/-4.4 points, respectively, P<.01). The 12-month-standardized total score changes were significantly greater in physician-rated deteriorated (49%) versus stable patients (51%), with mean differences in scores being -5.3+/-7.6 and -1.2+/-5.3, respectively (P<.001). CONCLUSIONS: The MFM showed a good responsiveness, especially in patients with DMD and agreements with patients' and physicians' perceived change. Confirming this responsiveness requires larger age groups of patients with DMD and other neuromuscular diseases as well as disease-specific interexamination delays.
Vuillerot C; Payan C; Girardot F; Fermanian J; Iwaz J; Berard C; Ecochard R
Archives of Physical Medicine and Rehabilitation
2012
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<a href="http://doi.org/10.1016/j.apmr.2012.05.025" target="_blank" rel="noreferrer noopener">10.1016/j.apmr.2012.05.025</a>
The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients
children; responsiveness; Medicine; Endocrinology & Metabolism; Genetics & Heredity; Research & Experimental; disease; scale; acid maltase deficiency; genotype-phenotype correlation; muscle function; muscular-dystrophy; natural course; validation; tone and motor problems; glycogen storage disease type II; tool development; scale development; motor function
Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness. With the emergence of new treatment options, psychometrically robust outcome measures are needed to monitor patients' clinical status. We constructed a motor function test that is easy and quick to use. The Quick Motor Function Test (QMFT) was constructed on the basis of the clinical expertise of several physicians involved in the care of Pompe patients; the Gross Motor Function Measure and the IPA/Erasmus MC Pompe survey. The test comprises 16 items. Validity and test reliability were determined in a cohort of 91 Pompe patients (5 to 76 years of age). In addition, responsiveness of the scale to changes in clinical condition over time was examined in a subgroup of 18 patients receiving treatment and 23 untreated patients. Interrater and intrarater reliabilities were good (intraclass correlation coefficients: 0.78 to 0.98 and 0.76 to 0.98). The test correlated strongly with proximal muscle strength assessed by hand held dynamometry and manual muscle testing (rs= 0.81, rs=0.89), and showed significant differences between patient groups with different disease severities. A clinical-empirical exploration to assess responsiveness showed promising results, albeit it should be repeated in a larger group of patients. In conclusion, the Quick Motor Function Test can reliably rate clinical severity and motor function in children and adults with Pompe disease.
van Capelle C I; van der Beek N A M E; de Vries J M; van Doorn P A; Duivenvoorden H J; Leshner R T; Hagemans M L C; van der Ploeg A T
Journal of Inherited Metabolic Disease
2012
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<a href="http://doi.org/10.1007/s10545-011-9388-3" target="_blank" rel="noreferrer noopener">10.1007/s10545-011-9388-3</a>
Fluoroscopically Guided Dilation of Esophageal Strictures in Patients With Dystrophic Epidermolysis Bullosa: Long-Term Results
children; experience; management; balloon dilatation; benign esophageal stricture; dystrophic epidermolysis bullosa; eb; fluoroscopically guided balloon dilation; Radiology Nuclear Medicine & Medical Imaging; stenosis; feeding difficulties; epidermolysis bullosa; surgical intervention; fluoroscopically guided dilation of esophageal strictures; dysphagia; nutritional failure; gastronomy tube placement
OBJECTIVE. The purpose of this study was to investigate the immediate and long-term outcomes after fluoroscopically guided balloon dilation of esophageal strictures in a series of patients with dystrophic epidermolysis bullosa (DEB). MATERIALS AND METHODS. Between 2005 and 2011, the medical records of all patients with DEB treated with fluoroscopically guided balloon dilation of esophageal strictures were included in the study and retrospectively analyzed. The indication for treatment was dysphagia attributed to at least one radiologically verified esophageal stricture. The primary endpoints of the study included procedural technical success, clinical improvement assessed with a 0-4 dysphagia score, and major complication rate. Secondary endpoints were patient survival and reintervention rates. RESULTS. Nineteen consecutively registered patients with DEB (age range, 10-51 years; mean, 30 +/- 12.2 years) and dysphagia due to esophageal strictures were treated with fluoroscopically guided balloon dilation. In total, 90 procedures and 121 dilations were performed to manage 28 lesions. Balloon diameter ranged from 8 to 18 mm. The mean follow-up time was 47.51 +/- 16.64 months (range, 17-73 months). The technical success rate was 96.7% (87/90). There were no major complications. The mean reintervention rate was 1.19 dilations per patient per year, and the postprocedural dysphagia score (0.72 [95% CI, 0.56-0.87]) was significantly lower than baseline (2.50 [95% CI 2.35-2.65]) (p < 0.001). CONCLUSION. Repeated fluoroscopically guided balloon dilation is safe and effective for the management of dysphagia caused by esophageal strictures in DEB. Use of this technique was associated with marked clinical improvement in dysphagia and satisfactory long-term reintervention rates with no major complications.
Spiliopoulos S; Sabharwal T; Krokidis M; Gkoutzios P; Mellerio J; Dourado R; Adam A
American Journal of Roentgenology
2012
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<a href="http://doi.org/10.2214/ajr.11.8159" target="_blank" rel="noreferrer noopener">10.2214/ajr.11.8159</a>
The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: part I: development and provisional clinical reference data
Middle Aged; Male; Sensitivity and Specificity; Multivariate Analysis; Aged; Young Adult; Child; Humans; Adult; Adolescent; Prevalence; Female; Child Preschool; Reference Values; Aged 80 and over; Aggression/psychology; Attention Deficit and Disruptive Behavior; Disorders/diagnosis/epidemiology/psychology; Intellectual Disability/diagnosis/epidemiology/psychology; Personality Inventory/standards/statistics & numerical data; Self-Injurious Behavior/diagnosis/epidemiology/psychology; Stereotypic Movement Disorder/diagnosis/epidemiology/psychology; behavioral problems; unspecified ID; tool development; scale development
BACKGROUND: The Behavior Problems Inventory-01 (BPI-01) is an informant-based behaviour rating instrument that was designed to assess maladaptive behaviours in individuals with intellectual disabilities (ID). Its items fall into one of three sub-scales: Self-injurious Behavior (14 items), Stereotyped Behavior (24 items), and Aggressive/Destructive Behavior (11 items). Each item is rated on a frequency scale (0 = never to 4 = hourly), and a severity scale (0 = no problem to 3 = severe problem). The BPI-01 has been successfully used in several studies and has shown acceptable to very good psychometric properties. One concern raised by some investigators was the large number of items on the BPI-01, which has reduced its user friendliness for certain applications. Furthermore, researchers and clinicians were often uncertain how to interpret their BPI-01 data without norms or a frame of reference. METHODS: The Behavior Problems Inventory-Short Form (BPI-S) was empirically developed, based on an aggregated archival data set of BPI-01 data from individuals with ID from nine locations in the USA, Wales, England, the Netherlands, and Romania (n = 1122). The BPI-S uses the same rating system and the same three sub-scales as the BPI-01, but has fewer items: Self-injurious Behavior (8 items), Stereotyped Behavior (12 items), and Aggressive/Destructive Behavior (10 items). Rating anchors for the severity scales of the Self-injurious Behavior and the Aggressive/Destructive Behavior sub-scales were added in an effort to enhance the objectivity of the ratings. RESULTS: The sensitivity of the BPI-S compared with the BPI-01 was high (0.92 to 0.99), and so were the correlations between the analogous BPI-01 and the BPI-S sub-scales (0.96 to 0.99). Means and standard deviations were generated for both BPI versions in a Sex-by-age matrix, and in a Sex-by-ID Level matrix. Combined sex ranges are also provided by age and level of ID. CONCLUSION: In summary, the BPI-S is a very useful alternative to the BPI-01, especially for research and evaluation purposes involving groups of individuals.
Rojahn J; Rowe E W; Sharber A C; Hastings R; Matson J L; Didden R; Kroes D B; Dumont E L
Journal of Intellectual Disability Research
2012
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<a href="http://doi.org/10.1111/j.1365-2788.2011.01507.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2011.01507.x</a>
The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: Part II: reliability and validity
children; reliability; Rehabilitation; validity; Neurology; Education & Educational Research; Genetics & Heredity; Neurosciences &; Psychiatry; autism spectrum disorders; developmental-disabilities; checklist; disabilities; validation; Behavior Problems Inventory; diagnostic-assessment; factor structure; fit indexes; handicapped dash; intellectual; profound mental-retardation; rating form; severely; behavioral problems; unspecified ID; tool development; scale development
Background The Behavior Problems Inventory-01 (BPI-01) is an informant-based behaviour rating instrument for intellectual disabilities (ID) with 49 items and three sub-scales: Self-injurious Behavior, Stereotyped Behavior and Aggressive/Destructive Behavior. The Behavior Problems Inventory-Short Form (BPI-S) is a BPI-01 spin-off with 30 items. Methods The psychometric properties of these two versions of the scale were computed using aggregated archival data from nine different sites in the USA, Wales, England, the Netherlands and Romania with a total of 1122 cases with a BPI-01 total score >0. Results The internal consistency of the BPI-01 and the BPI-S ranged from fair to excellent with the BPI-01 showing slightly stronger reliability. Construct validity (confirmatory and discriminant) was computed by comparing BPI sub-scale scores with the scores of four other behaviour rating scales (the Aberrant Behavior Checklist, the Diagnostic Assessment for the Severely Handicapped-II, the Nisonger Child Behavior Rating Form and the Inventory for Client and Agency Planning). Strong evidence for confirmatory and discriminant validity was found for both the BPI-01 and the BPI-S. Confirmatory fit indices for the BPI and the BPI-S were comparable and suggesting that the factor structures fit the data well. Conclusion In summary, both BPI versions were found to be equally sound psychometrically and can be endorsed for future use. However, independent future studies are needed to replicate the psychometrics of the BPI-S with new data.
Rojahn J; Rowe E W; Sharber A C; Hastings R; Matson J L; Didden R; Kroes D B H; Dumont E L M
Journal of Intellectual Disability Research
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/j.1365-2788.2011.01506.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2011.01506.x</a>
Insomnia in Cornelia de Lange Syndrome
Pediatrics; Sleep; Otorhinolaryngology; melatonin; smith-magenis-syndrome; Cornelia de Lange Syndrome; Sleepiness; Insomnia; sleep disturbance; sleep disturbance/disorders; De Lange syndrome; trajectory; characteristics
Objective: Up to 55% of patients with Cornelia de Lange Syndrome (CdLS) experience sleep disturbance. Prior evaluation of children without CdLS with similar intellectual disability and self-injurious behavior suggests that sleep disturbances may be related to insomnia or circadian issues. Methods: Caregivers of 31 patients (19 children) with CdLS completed a sleep history questionnaire focused on sleep patterns and evening sleep behavior to screen for signs and symptoms of insomnia and circadian rhythm disorders. Results: The mean age of participants was 14.5 years (range 0.6-37). Major difficulty in falling asleep (75% pediatric, 33% adult) and staying asleep (52% pediatric, 33% adult) was noted. Overall, time to sleep onset was 27.0 +/- 17.6 min, however in those with stated sleep onset difficulty, average time to sleep was 37.8 +/- 16.4 min (p = 0.002). The mean number of pediatric nighttime awakenings was 1.5 overall and 2.1 in those with stated sleep maintenance difficulties versus 0.7 and 1.5 respectively in adults. Children with CdLS tended to fall back asleep slower (61.8 min) than adults (14.9 min), but none of the comparisons between adult and pediatric sleep measures were significant. Greater than half of participants reported a family member with a possible circadian rhythm disorder. Conclusions: Symptoms suggestive of insomnia or circadian rhythm disorder are prevalent in this cohort of children and adults with CdLS. Adults may have less severe symptoms than children, suggesting some improvement over time although this study is underpowered for this analysis. Further studies are necessary to better characterize sleep disturbance in the CdLS population. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
Rajan R; Benke J R; Kline A D; Levy H P; Kimball A; Mettel T L; Boss E F; Ishman S L
International Journal of Pediatric Otorhinolaryngology
2012
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<a href="http://doi.org/10.1016/j.ijporl.2012.03.008" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2012.03.008</a>
The Association Between Repetitive, Self-Injurious and Aggressive Behavior in Children With Severe Intellectual Disability
Psychology; Prevalence; Aggression; Intellectual disability; people; de-lange-syndrome; Self-injury; Stereotyped behavior; adults; Autism spectrum disorder; challenging behaviors; handicap; learning-disabilities; mental; psychotropic medication; Repetitive behavior; risk-factors; total population; young-children; behavioral problems; severe intellectual disability; trajectory; characteristics; high frequency repetitive behavior; ritualistic behavior; challenging behavior
We evaluated the independent association between adaptive behavior, communication and repetitive or ritualistic behaviors and self-injury, aggression and destructive behavior to identify potential early risk markers for challenging behaviors. Data were collected for 943 children (4-18 years, M = 10.88) with severe intellectual disabilities. Odds ratio analyses revealed that these characteristics generated risk indices ranging from 2 to 31 for the presence and severity of challenging behaviors. Logistic regressions revealed that high frequency repetitive or ritualistic behavior was associated with a 16 times greater risk of severe self-injury and a 12 times greater risk of showing two or more severe challenging behaviors. High frequency repetitive or ritualistic behaviors independently predict challenging behavior and have the potential to be early risk markers for self-injury and aggression of clinical significance.
Oliver C; Petty J; Ruddick L; Bacarese-Hamilton M
Journal of Autism and Developmental Disorders
2012
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<a href="http://doi.org/10.1007/s10803-011-1320-z" target="_blank" rel="noreferrer noopener">10.1007/s10803-011-1320-z</a>
Botulinum Toxin Type A for the Treatment of Equinus Deformity in Patients With Mucopolysaccharidosis Type II
children; Pediatrics; Neurosciences & Neurology; management; botulinum toxin type A; cerebral-palsy; disease; equinus deformity; Hunter syndrome; hunter-syndrome; II; mucopolysaccharidosis type; recommendations; skeletal-muscle; tone and motor problems; MPSII; pharmacologic intervention; physical intervention; botulinum toxin type A; serial casting; physical therapy
Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature, organomegaly, and variable neurological changes from normal intelligence to severe mental retardation and spasticity. Effects on the musculoskeletal system include dysostosis multiplex, joint stiffness, and muscle shortening. This article reports 2 patients with mucopolysaccharidosis type II (Hunter syndrome) who showed progressive equinus deformity of the feet. Both patients were treated with intramuscular botulinum toxin type A injections in the gastrocnemius and the soleus muscles, followed by serial casting. In both patients, passive range of motion, muscle tone, and gait performance were significantly improved. Botulinum toxin type A injections followed by serial casting are a therapeutic option for contractures in patients with mucopolysaccharidosis. However, the long-term effects and the effect of application in other muscles remain unknown.
Nava E; Weber P; Gautschi M; Nuoffer J M; Grunt S
Journal of Child Neurology
2012
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<a href="http://doi.org/10.1177/0883073812438100" target="_blank" rel="noreferrer noopener">10.1177/0883073812438100</a>
Interventions for oropharyngeal dysphagia in children with neurological impairment
neurological impairment; Rett syndrome; Down syndrome; cerebral palsy; traumatic brain injury; stroke; myotonic dystrophy; oropharyngeal dysphagia; feeding difficulties; oral sensorimotor intervention; physical intervention; sensorimotor intervention; lip strengthening intervention
BACKGROUND: Oropharyngeal dysphagia encompasses problems with the oral preparatory phase of swallowing (chewing and preparing the food), oral phase (moving the food or fluid posteriorly through the oral cavity with the tongue into the back of the throat) and pharyngeal phase (swallowing the food or fluid and moving it through the pharynx to the oesophagus). Populations of children with neurological impairment who commonly experience dysphagia include, but are not limited to, those with acquired brain impairment (for example, cerebral palsy, traumatic brain injury, stroke), genetic syndromes (for example, Down syndrome, Rett syndrome) and degenerative conditions (for example, myotonic dystrophy). OBJECTIVES: To examine the effectiveness of interventions for oropharyngeal dysphagia in children with neurological impairment. SEARCH METHODS: We searched the following electronic databases in October 2011: CENTRAL 2011(3), MEDLINE (1948 to September Week 4 2011), EMBASE (1980 to 2011 Week 40)
, CINAHL (1937 to current)
, ERIC (1966 to current), PsycINFO (1806 to October Week 1 2011), Science Citation Index (1970 to 7 October 2011), Social Science Citation Index (1970 to 7 October 2011), Cochrane Database of Systematic Reviews, 2011(3), DARE 2011(3), Current Controlled Trials (ISRCTN Register) (15 October 2011), ClinicalTrials.gov (15 October 2011) and WHO ICTRP (15 October 2011). We searched for dissertations and theses using Networked Digital Library of Theses and Dissertations, Australasian Digital Theses Program and DART-Europe E-theses Portal (11 October 2011). Finally, additional references were also obtained from reference lists from articles. SELECTION CRITERIA: The review included randomised controlled trials and quasi-randomised controlled trials for children with oropharyngeal dysphagia and neurological impairment. DATA COLLECTION AND ANALYSIS: All three review authors (AM, PD and EW) independently screened titles and abstracts for inclusion and discussed results. In cases of uncertainty over whether an abstract met inclusion criterion, review authors obtained the full-text article and independently evaluated each paper for inclusion. The data were categorised for comparisons depending on the nature of the control group (for example, oral sensorimotor treatment versus no treatment). Effectiveness of the oropharyngeal dysphagia intervention was assessed by considering primary outcomes of physiological functions of the oropharyngeal mechanism for swallowing (for example, lip seal maintenance), the presence of chest infection and pneumonia, and diet consistency a child is able to consume. Secondary outcomes were changes in growth, child's level of participation in the mealtime routine and the level of parent or carer stress associated with feeding. MAIN RESULTS: Three studies met the inclusion criteria for the review. Two studies were based on oral sensorimotor interventions for participants with cerebral palsy compared to standard care and a third study trialled lip strengthening exercises for children with myotonic dystrophy type 1 compared to no treatment (Sjogreen 2010). A meta-analysis combining results across the three studies was not possible because one of the studies had participants with a different condition, and the remaining two, although using oral sensorimotor treatments, used vastly different approaches with different intensities and durations. The decision not to combine these was in line with our protocol. In this review, we present the results from individual studies for four outcomes: physiological functions of the oropharyngeal mechanism for swallowing, the presence of chest infection and pneumonia, diet consistency, and changes in growth. However, it is not possible to reach definitive conclusions on the effectiveness of particular interventions for oropharyngeal dysphagia based on these studies. One study had a high risk of attrition bias owing to missing data, had statistically significant differences (in weight) across experimental and control groups at baseline, and did not describe other aspects of the trial sufficiently to enable assessment of other potential risks of bias. Another study was at high risk of detection bias as some outcomes were assessed by parents who knew whether their child was in the intervention or control group. The third study overall seemed to be at low risk of bias, but like the other two studies, suffered from a small sample size. AUTHORS' CONCLUSIONS: The review demonstrates that there is currently insufficient high-quality evidence from randomised controlled trials or quasi-randomised controlled trials to provide conclusive results about the effectiveness of any particular type of oral-motor therapy for children with neurological impairment. There is an urgent need for larger-scale (appropriately statistically powered), randomised trials to evaluate the efficacy of interventions for oropharyngeal dysphagia.
Morgan A T; Dodrill P; Ward E C
The Cochrane Database of Systematic Reviews
2012
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<a href="http://doi.org/10.1002/14651858.CD009456.pub2" target="_blank" rel="noreferrer noopener">10.1002/14651858.CD009456.pub2</a>
Exploration of differences in types of sleep disturbance and severity of sleep problems between individuals with Cri du Chat syndrome, Down's syndrome, and Jacobsen syndrome: A case control study
sleep disturbance/disorders; cri-du-chat syndrome; Jacobsen syndrome; trajectory; characteristics
The prevalence of sleep problems in individuals with intellectual disability (ID) seems to vary between genetic syndromes associated with ID. Different types of sleep disturbances may indicate underlying causes of sleep problems and these types of sleep disturbances may vary between different genetic syndromes. We examined and compared five types of sleep disturbance as well as severity of sleep problems in individuals with Cri du Chat syndrome (CDC), Down's syndrome (DS), Jacobsen syndrome (JS), and individuals with non-specific ID (NS). We used Simonds and Parraga's Sleep Questionnaire (1982) to assess prevalence of types of sleep disturbance and to explore differences in types of sleep disturbance and severity of sleep problems between the four diagnostic groups. In each group, mean scores for Snoring were significantly higher than those for Sleep apnea and Snoring was the most prevalent type of sleep disturbance in CDC, DS, and JS. The mean score on Complaints related to sleep was remarkably high in the JS group. There were no differences in severity of sleep problems between groups. These findings suggest that snoring is an important underlying cause of sleep problems in individuals with CDS, DS, and JS. (C) 2012 Elsevier Ltd. All rights reserved.
Maas A; Didden R; Korzilius H; Curfs L M G
Research in Developmental Disabilities
2012
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<a href="http://doi.org/10.1016/j.ridd.2012.04.017" target="_blank" rel="noreferrer noopener">10.1016/j.ridd.2012.04.017</a>
The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study
tone and motor problems; Rett syndrome; physical intervention; daily training program; treadmill
INTRODUCTION: Rett syndrome (RTT) is a neurological disorder usually associated with a mutation in the MECP2 gene. Conductive Education (CE) is an educational approach that has not yet been explored with regard to children with RTT. OBJECTIVE: Assessing functional abilities of individuals with RTT due to CE intervention. DESIGN: A single subject, AB design. method: This study assessed the functional skills of three girls with RTT aged 3-5 years before and during participation in a CE programme. RESULTS: Gross motor function improvements were observed at the end of the intervention period. Gross motor skills declined slightly in all participants over the summer holidays but improved again a few months after recommencement of the educational year. CONCLUSION: Replication of this study with more subjects is justified as is comparison with other educational methods. A home intervention programme should be constructed to prevent decline of skills over the summer vacation.
Lotan M; Schenker R; Wine J; Downs J
Developmental Neurorehabilitation
2012
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<a href="http://doi.org/10.3109/17518423.2011.629374" target="_blank" rel="noreferrer noopener">10.3109/17518423.2011.629374</a>
Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation
tone and motor problems; IND; surgical intervention; Pallidal deep brain stimulation
BACKGROUND AND PURPOSE: The purpose of this study was to evaluate the mutation status of PANK2 among Korean patients with pantothenate kinase-associated neurodegeneration (PKAN) and to document the outcome of pallidal deep brain stimulation (DBS). METHODS: Direct sequencing and deletion/duplication analysis of PANK2 were conducted in 12 patients (11 unrelated) with PKAN, diagnosed on the basis of extrapyramidal dysfunction and the 'eye-of-the-tiger sign' on brain magnetic resonance imaging (MRI). Pallidal DBS was conducted in four patients, and the outcomes were measured using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). RESULTS: A PANK2 mutation was identified in both alleles in all patients. The most prevalent mutation was c.1319G>C (p.R440P) in 8/22 mutated alleles (36%). An intragenic deletion ranging from exons 2 to 4 was found in one allele (1/22, 4.5%) using deletion/duplication analysis. The outcome of pallidal DBS was favorable in two patients with atypical PKAN and moderate severity of dystonia. However, two patients with typical PKAN and relatively severe symptoms showed variable responses. CONCLUSIONS: The c.1319G>C (p.R440P) mutation appears to be a founder genotype among Korean patients with PKAN. Furthermore, this study provides additional data for the recent international effort to evaluate the efficacy of pallidal DBS in the treatment of patients with PKAN.Copyright © 2011 The Author(s). European Journal of Neurology © 2011 EFNS.
Lim B C; Ki C S; Cho A; Hwang H; Kim K J; Hwang Y S; Kim Y E; Yun J Y; Jeon B S; Lim Y H; Paek S H; Chae J H
European Journal of Neurology
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/j.1468-1331.2011.03589.x" target="_blank" rel="noreferrer noopener">10.1111/j.1468-1331.2011.03589.x</a>
Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome
Parents; Age Factors; Male; Young Adult; Surveys and Questionnaires; Child; Humans; Adult; Adolescent; Prevalence; Female; Child Preschool; Infant; Health Surveys; Mutation; Rett Syndrome/complications/genetics; Bone Diseases/complications/epidemiology; Child Nutrition Disorders/epidemiology/etiology/genetics; Gastrointestinal Diseases/epidemiology/etiology/genetics; Growth Disorders/epidemiology/etiology/genetics; Infant Nutrition Disorders/epidemiology/etiology/genetics; Methyl-CpG-Binding Protein 2/genetics; Nutrition Disorders/epidemiology/etiology/genetics; constipation; feeding difficulties; Rett syndrome; trajectory; characteristics; gastrointestinal dysmotility; dysmotility; dysphagia
OBJECTIVE: We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2 (MECP2) gene status. METHODS: We designed a questionnaire that probed symptoms, diagnoses, diagnostic tests, and treatment interventions related to gastrointestinal and nutritional problems in RTT. The International Rett Syndrome Foundation distributed the questionnaire to 1666 family-based members and forwarded their responses for our review. We interrogated the Rare Disease Clinical Research Network database to supplement findings related to medications used to treat gastrointestinal problems in RTT. RESULTS: Parents of 983 female patients with RTT (59%) responded and identified symptoms and diagnoses associated with gastrointestinal dysmotility (92%), chewing and swallowing difficulties (81%), weight deficits or excess (47%), growth deficits (45%), low bone mineral content or fractures (37%), and biliary tract disorders (3%). Height-for-age, weight-for-age, and body mass index z scores decreased significantly with age; height- and weight-, but not body mass index-for-age z scores were significantly lower in female subjects with MECP2 mutations than in those without. Vomiting, nighttime awakening, gastroesophageal reflux, chewing difficulty, and choking with feeding were significantly less likely to occur with increasing age. Short stature, low bone mineral content, fractures, and gastrostomy placement were significantly more likely to occur with increasing age. Chewing difficulty, choking with feeding, and nighttime awakening were significantly less likely to occur, whereas short stature was significantly more likely to occur, in female subjects with MECP2 mutations than in those without. Diagnostic evaluations and therapeutic interventions were used less frequently than the occurrence of symptoms or diagnoses in the RTT cohort. CONCLUSIONS: Gastrointestinal and nutritional problems perceived by parents are prevalent throughout life in girls and women with RTT and may pose a substantial medical burden for their caregivers. Physician awareness of these features of RTT may improve the health and quality of life of individuals affected with this disorder.
Lee H S; Geerts S; Glaze D G; Percy A K; Skinner S A; Motil K J; Lane J B; Neul J L; McNair L; Annese F; Barrish J O; Caeg E
Journal of Pediatric Gastroenterology and Nutrition
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1097/MPG.0b013e31824b6159" target="_blank" rel="noreferrer noopener">10.1097/MPG.0b013e31824b6159</a>
Video game-based coordinative training improves ataxia in children with degenerative ataxia
tone and motor problems; Friedreich's ataxia; physical intervention; video game-based coordinative training; ataxia; balance
Objective: Degenerative ataxias in children present a rare condition where effective treatments are lacking. Intensive coordinative training based on physiotherapeutic exercises improves degenerative ataxia in adults, but such exercises have drawbacks for children, often including a lack of motivation for high-frequent physiotherapy. Recently developed whole-body controlled video game technology might present a novel treatment strategy for highly interactive and motivational coordinative training for children with degenerative ataxias. Methods: We examined the effectiveness of an 8-week coordinative training for 10 children with progressive spinocerebellar ataxia. Training was based on 3 Microsoft Xbox Kinect video games particularly suitable to exercise whole-body coordination and dynamic balance. Training was started with a laboratory-based 2-week training phase and followed by 6 weeks training in children's home environment. Rater-blinded assessments were performed 2 weeks before laboratorybased training, immediately prior to and after the laboratory-based training period, as well as after home training. These assessments allowed for an intraindividual control design, where performance changes with and without training were compared. Results: Ataxia symptoms were significantly reduced (decrease in Scale for the Assessment and Rating of Ataxia score, p = 0.0078) and balance capacities improved (dynamic gait index, p = 0.04) after intervention. Quantitative movement analysis revealed improvements in gait (lateral sway: p = 0.01; step length variability: p = 0.01) and in goal-directed leg placement (p 5 0.03). Conclusions: Despite progressive cerebellar degeneration, children are able to improvemotor performance by intensive coordination training. Directed training of whole-body controlled video games might present a highly motivational, cost-efficient, and home-based rehabilitation strategy to train dynamic balance and interaction with dynamic environments in a large variety of youngonset neurologic conditions. Classification of evidence: This study provides Class III evidence that directed training with Xbox Kinect video games can improve several signs of ataxia in adolescents with progressive ataxia as measured by SARA score, Dynamic Gait Index, and Activity-specific Balance Confidence Scale at 8 weeks of training. © 2012 American Academy of Neurology.
Ilg W; Schatton C; Schicks J; Giese M A; Schols L; Synofzik M
Neurology
2012
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<a href="http://doi.org/10.1212/WNL.0b013e3182749e67" target="_blank" rel="noreferrer noopener">10.1212/WNL.0b013e3182749e67</a>
Initial assessment of the StepWatch Activity Monitor (TM) to measure walking activity in Rett syndrome
tone and motor problems; Rett syndrome; tool development; scale development; StepWatch
Purpose: In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor (TM) and investigated relationships between daily step counts, gross motor skills and age. Method: Twelve subjects (age 12.9 +/- 8.0 years) participating in the Australian Rett Syndrome Database wore a StepWatch during a videoed session of activities to assess agreement with the criterion method of observation. Physical activity data were also collected over the course of 6 +/- 1 whole days. Relationships between agreement, gross motor skills, average daily step count and age were analyzed. Results: The number of steps obtained using the StepWatch was similar to that viewed on video (mean difference = 0 steps per minute) and agreement did not differ with the level of general (p = 0.389) or complex gross motor skills (p = 0.221). Subjects were less active than their healthy peers (difference 6086 steps per day; p = 0.001), and physical activity was significantly greater in those who were younger and with greater levels of motor skill. Conclusions: The StepWatch provided accurate information on the physical activity of girls and women with Rett syndrome regardless of their level of gross motor function. Physical activity reduced with age despite the ability to walk. Advocacy for pro-active lifestyles is justified.
Hill K; Leonard H; Downs J
Disability and Rehabilitation
2012
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<a href="http://doi.org/10.3109/09638288.2011.630773" target="_blank" rel="noreferrer noopener">10.3109/09638288.2011.630773</a>
Respiratory disturbances in rett syndrome: Don't forget to evaluate upper airway obstruction
breathing difficulties; Rett syndrome; trajectory; characteristics; respiratory muscle strength
Rett syndrome is characterized by loss of motor and social functions, development of stereotypic hand movements, seizures, and breathing disturbances. This study evaluates the presence of overnight respiratory disturbances. Polysomnography in combination with a questionnaire (the Sleep Disturbance Scale for Children) was performed in 12 Dutch patients with Rett. Respiratory disturbances were present in all, clinically relevant in 10 (apnea hypopnea per hour 1.0-14.5). In 8 children, central apneas were present during the day often with obstructive apneas at night. In 6, obstructive sleep apnea syndrome was diagnosed, in 3 severe, with frequent oxygen desaturations. Significant respiratory complaints were present in 3 patients, all had obstructive sleep apnea syndrome. Of the 12 patients with Rett, 8 (67%) snored, and in 5 obstructive sleep apnea syndrome was present. In children, hypertrophied tonsils and adenoids are a common cause of obstructive sleep apnea syndrome, which may benefit from therapeutic intervention. We recommend performing polysomnography in patients with Rett syndrome and respiratory complaints. © The Author(s) 2012.
Hagebeuk E E O; Bijlmer R P G M; Koelman J H T M; Poll-The B T
Journal of Child Neurology
2012
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<a href="http://doi.org/10.1177/0883073811429859" target="_blank" rel="noreferrer noopener">10.1177/0883073811429859</a>
Melatonin for sleep problems in children with neurodevelopmental disorders: randomised double masked placebo controlled trial
Male; Treatment Outcome; Severity of Illness Index; Dose-Response Relationship Drug; Child; Humans; Adolescent; Family Health; Female; Child Preschool; Drug Monitoring; Child Behavior/drug effects; Melatonin/administration & dosage/adverse effects; Sleep Wake Disorders/diagnosis/drug therapy/etiology; Central Nervous System Depressants/administration & dosage/adverse effects; Central Nervous System Diseases/complications; Developmental Disabilities/complications; Polysomnography/methods; Sleep/drug effects; sleep disturbance/disorders; unspecified Q3 conditions; Q3 conditions; pharmacologic intervention; melatonin
OBJECTIVE: To assess the effectiveness and safety of melatonin in treating severe sleep problems in children with neurodevelopmental disorders. DESIGN: 12 week double masked randomised placebo controlled phase III trial. SETTING: 19 hospitals across England and Wales. PARTICIPANTS: 146 children aged 3 years to 15 years 8 months were randomised. They had a range of neurological and developmental disorders and a severe sleep problem that had not responded to a standardised sleep behaviour advice booklet provided to parents four to six weeks before randomisation. A sleep problem was defined as the child not falling asleep within one hour of lights out or having less than six hours' continuous sleep. INTERVENTIONS: Immediate release melatonin or matching placebo capsules administered 45 minutes before the child's bedtime for a period of 12 weeks. All children started with a 0.5 mg capsule, which was increased through 2 mg, 6 mg, and 12 mg depending on their response to treatment. MAIN OUTCOME MEASURES: Total sleep time at night after 12 weeks adjusted for baseline recorded in sleep diaries completed by the parent. Secondary outcomes included sleep onset latency, assessments of child behaviour, family functioning, and adverse events. Sleep was measured with diaries and actigraphy. RESULTS: Melatonin increased total sleep time by 22.4 minutes (95% confidence interval 0.5 to 44.3 minutes) measured by sleep diaries (n=110) and 13.3 (-15.5 to 42.2) measured by actigraphy (n=59). Melatonin reduced sleep onset latency measured by sleep diaries (-37.5 minutes, -55.3 to -19.7 minutes) and actigraphy (-45.3 minutes, -68.8 to -21.9 minutes) and was most effective for children with the longest sleep latency (P=0.009). Melatonin was associated with earlier waking times than placebo (29.9 minutes, 13.6 to 46.3 minutes). Child behaviour and family functioning outcomes showed some improvement and favoured use of melatonin. Adverse events were mild and similar between the two groups. CONCLUSIONS: Children gained little additional sleep on melatonin; though they fell asleep significantly faster, waking times became earlier. Child behaviour and family functioning outcomes did not significantly improve. Melatonin was tolerable over this three month period. Comparisons with slow release melatonin preparations or melatonin analogues are required. TRIAL REGISTRATION: ISRCT No 05534585.
Gringras P; Gamble C; Jones A P; Wiggs L; Williamson P R; Sutcliffe A; Montgomery P; Whitehouse W P; Choonara I; Allport T; Edmond A; Appleton R
British Medical Journal
2012
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<a href="http://doi.org/10.1136/bmj.e6664" target="_blank" rel="noreferrer noopener">10.1136/bmj.e6664</a>
Hand stereotypies distinguish Rett syndrome from autism disorder
children; Neurosciences & Neurology; childhood; Rett syndrome; autism; mecp2; movements; hand stereotypies; motor stereotypies; stereotypies; developmental disorders; tone and motor problems; trajectory; characteristics; mouthing
Background: Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long-term prognoses, this issue may have far-reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked. Methods: A comparison of hand stereotypies in 20 children with RTT and 20 with AD was performed using detailed analyses of videotaped standardized observations. Results: Striking differences are observed between RTT and AD children. In RTT, hand stereotypies are predominantly complex, continuous, localized to the body midline, and involving mouthing. Conversely, in AD children, hand stereotypies are simple, bilateral, intermittent, and often involving objects. Conclusions: These results provide important clinical signs useful to the differential diagnosis of RTT versus AD, especially when genetic testing for RTT is not an option. (c) 2012 Movement Disorder Society
Goldman S; Temudo T
Movement Disorders
2012
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<a href="http://doi.org/10.1002/mds.25057" target="_blank" rel="noreferrer noopener">10.1002/mds.25057</a>
Beyond the Burke-Fahn-Marsden Dystonia Rating Scale: Deep brain stimulation in childhood secondary dystonia
children; Pediatrics; Goals; Disability; reliability; Outcomes; patient selection; validity; Neurosciences & Neurology; cerebral-palsy; follow-up; rehabilitation; globus-pallidus internus; primary generalized dystonia; (DBS); Childhood dystonia; Paediatric deep brain stimulation; pediatric movement-disorders; Secondary dystonia; tone and motor problems; Glutaric acidemia type I; surgical intervention; Deep brain stimulation; BFMDRS
Purpose: Deep brain stimulation is now widely accepted as an effective treatment for children with primary generalized dystonia. More variable results are reported in secondary dystonias and its efficacy in this heterogeneous group has not been fully elucidated. Deep brain stimulation outcomes are typically reported using impairment-focused measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, which provide little information about function and participation outcomes or changes in non-motor areas. The aim is to demonstrate that in some cases of secondary dystonia, the sole use of impairment level measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, may be insufficient to fully evaluate outcome following deep brain stimulation. Methods: Six paediatric cases who underwent deep brain stimulation surgery with a minimum of one year follow up were selected on the basis of apparent non-response to deep brain stimulation, defined as a clinically insignificant change in the Burke-Fahn-Marsden Dystonia Movement Scale (<20%), but where other evaluation measures demonstrated clinical efficacy across several domains. Results: Despite no significant change in Burke-Fahn-Marsden Dystonia Rating Scale scores following deep brain stimulation, parallel outcome measures demonstrated significant benefit in a range of child and family-centred goal areas including: pain and comfort, school attendance, seating tolerance, access to assistive technology and in some cases carer burden. Conclusions: Sole use of impairment-focused measures, are limited in scope to evaluate outcome following deep brain stimulation, particularly in secondary dystonias. Systematic study of effects across multiple dimensions of disability is needed to determine what deep brain stimulation offers patients in terms of function, participation, care, comfort and quality of life. Deep brain stimulation may offer meaningful change across multiple domains of functioning, disability and health even in the absence of significant change in dystonia rating scales. (c) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Gimeno H; Tustin K; Selway R; Lin J P
European Journal of Paediatric Neurology
2012
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<a href="http://doi.org/10.1016/j.ejpn.2011.12.014" target="_blank" rel="noreferrer noopener">10.1016/j.ejpn.2011.12.014</a>
Incontinence in Individuals with Rett Syndrome: A Comparative Study
children; Rehabilitation; adolescents; epidemiology; disorders; Rett syndrome; behavioral-phenotype; Comparative study; enuresis; females; Incontinence; intellectual disability; mental-retardation; urinary incontinence; bowel incontinence; fecal incontinence; trajectory; characteristics; adaptive functioning
Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) ( = 63), using an adapted Dutch version of the 'Parental Questionnaire: Enuresis/Urinary Incontinence' (Beetz et al. 1994). Also, incontinence in RS was compared to a control group consisting of females with non-specific (mixed) intellectual disability ( = 26). Urinary incontinence (UI) (i.e., daytime incontinence and nocturnal enuresis) and faecal incontinence (FI) were found to be common problems among females with RS that occur in a high frequency of days/nights. UI and FI were mostly primary in nature and occur independent of participants' age and level of adaptive functioning. Solid stool, lower urinary tract symptoms and urinary tract infections (UTI's) were also common problems in females with RS. No differences in incontinence between RS and the control group were found, except for solid stool that was more common in RS than in the control group. It is concluded that incontinence is not part of the behavioural phenotype of RS, but that there is an increased risk for solid stool in females with RS.
Giesbers S; Didden R; Radstaake M; Korzilius H; von Gontard A; Lang R; Smeets E; Curfs L M G
Journal of Developmental and Physical Disabilities
2012
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<a href="http://doi.org/10.1007/s10882-012-9271-7" target="_blank" rel="noreferrer noopener">10.1007/s10882-012-9271-7</a>
Depression and anxiety disorders in children and adolescents with velo-cardio-facial syndrome (VCFS)
behavioral problems; 22q11.2 deletion syndrome; trajectory; characteristics; adaptive behavior; depression; anxiety; IQ; age
Fabbro A; Rizzi E; Schneider M; Debbane M; Eliez S
European Child and Adolescent Psychiatry
2012
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<a href="http://doi.org/10.1007/s00787-012-0273-x" target="_blank" rel="noreferrer noopener">10.1007/s00787-012-0273-x</a>
Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome
tone and motor problems; Rett syndrome; tool development; scale development; StepWatch
PURPOSE: In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts, gross motor skills and age. METHOD: Twelve subjects (age 12.9 ± 8.0 years) participating in the Australian Rett Syndrome Database wore a StepWatch during a videoed session of activities to assess agreement with the criterion method of observation. Physical activity data were also collected over the course of 6 ± 1 whole days. Relationships between agreement, gross motor skills, average daily step count and age were analyzed. RESULTS: The number of steps obtained using the StepWatch was similar to that viewed on video (mean difference = 0 steps per minute) and agreement did not differ with the level of general (p = 0.389) or complex gross motor skills (p = 0.221). Subjects were less active than their healthy peers (difference 6086 steps per day; p = 0.001), and physical activity was significantly greater in those who were younger and with greater levels of motor skill. CONCLUSIONS: The StepWatch provided accurate information on the physical activity of girls and women with Rett syndrome regardless of their level of gross motor function. Physical activity reduced with age despite the ability to walk. Advocacy for pro-active lifestyles is justified.
Downs J; Leonard H; Hill K
Disability and Rehabilitation
2012
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<a href="http://doi.org/10.3109/09638288.2011.630773" target="_blank" rel="noreferrer noopener">10.3109/09638288.2011.630773</a>
Females experience a more severe disease course in batten disease
behavior; tone and motor; NCL3; trajectory; characteristics
Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease; Batten disease) is an autosomal recessive neurodegenerative disease of childhood. Symptoms typically present at school age with vision loss followed by progressive cognitive decline, motor dysfunction, seizures, and behavior problems. Studies on sex differences in JNCL have yielded mixed results, but parent anecdotes suggest that females experience a more precipitous disease course. Therefore, we sought to determine if sex-based differences exist in JNCL. We used data from the Unified Batten Disease Rating Scale (UBDRS), the Batten Disease Support and Research Association (BDSRA) database, and the PedsQL quality of life (QoL) survey to evaluate sex-based differences in functional independence and time from symptom onset to death. On average, females had JNCL symptom onset one year later and death one year earlier than did males. Despite a later age at onset, females had lower functional capability, earlier loss of independent function, and lower physical QoL. Future research in sex differences in JNCL may help to further understand the biological mechanisms underpinning the disease course and may point to targeted therapies. © SSIEM and Springer 2011.
Cialone J; Adams H; Augustine E F; Marshall F J; Kwon J M; Newhouse N; Vierhile A; Levy E; Dure L S; Rose K R; Ramirez-Montealegre D; De Blieck E A; Mink J W
Journal of Inherited Metabolic Disease
2012
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<a href="http://doi.org/10.1007/s10545-011-9421-6" target="_blank" rel="noreferrer noopener">10.1007/s10545-011-9421-6</a>
Severity score system for progressive myelopathy: development and validation of a new clinical scale
tone and motor problems; MPS I; MPSIV; Adrenomyeloneuropathy; Mucolipidosis; tool development; scale development; myelopathy
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopathies and to present validating data for JOA in these diseases. A new scale, Severity Score System for Progressive Myelopathy (SSPROM), covering motor disability, sphincter dysfunction, spasticity, and sensory losses. Inter- and intra-rater reliabilities were measured. External validation was tested by applying JOA, the Expanded Disability Status Scale (EDSS), the Barthel index, and the Osame Motor Disability Score. Thirty-eight patients, 17 with adrenomyeloneuropathy, 3 with mucopolysaccharidosis I, 3 with mucopolysaccharidosis IV, 2 with mucopolysaccharidosis VI, 2 with mucolipidosis, and 11 with human T-cell lymphotropic virus type-1 (HTLV-1)-associated myelopathy participated in the study. The mean ± SD SSPROM and JOA scores were 74.6 ± 11.4 and 12.4 ± 2.3, respectively. Construct validity for SSPROM (JOA: r = 0.84, P < 0.0001; EDSS: r = -0.83, P < 0.0001; Barthel: r = 0.56, P < 0.002; Osame: r = -0.94, P < 0.0001) and reliability (intra-rater: r = 0.83, P < 0.0001; inter-rater: r = 0.94, P < 0.0001) were demonstrated. The metric properties of JOA were similar to those found in SSPROM. Several clinimetric requirements were met for both SSPROM and JOA scales. Since SSPROM has a wider range, it should be useful for follow-up studies on IEM myelopathies.
Castilhos R M; Blank D; Netto C B O; Souza C F M; Fernandes L N T; Schwartz I V D; Giugliani R; Jardim L B
The Brazilian Journal of Medical and Biological Research
2012
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<a href="http://doi.org/10.1590/s0100-879x2012007500072" target="_blank" rel="noreferrer noopener">10.1590/s0100-879x2012007500072</a>
The use of Melatonin in children with Neurodevelopmental Disorders and impaired Sleep: a randomised, double-blind, placebo-controlled, parallel study (MENDS)
insomnia; Health Care Sciences & Services; autism spectrum disorders; controlled-trial; exogenous melatonin; handicapped-children; improves sleep; onset; phase; rett-syndrome; serum melatonin; syndrome; young-adults; sleep disturbance/disorders; neurodevelopmental disorders; pharmacologic intervention; melatonin
Background: Difficulties in initiating and maintaining sleep are common in children with neurodevelopmental disorders. Melatonin is unlicensed in children yet widely prescribed for sleep problems. Objective: To determine whether or not immediate-release melatonin is beneficial compared with placebo in improving total duration of night-time sleep in children with neurodevelopmental problems. Design: Randomised, double-blind, placebo-controlled, parallel study. Setting: Hospitals throughout England and Wales recruited patients referred by community paediatricians and other clinical colleagues. Participants: Children with neurodevelopmental problems aged from 3 years to 15 years 8 months who did not fall asleep within 1 hour of lights out or who had <6 hours of continuous sleep. Before randomisation, patients meeting eligibility criteria entered a 4- to 6-week behaviour therapy period in which a behaviour therapy advice booklet was provided. Sleep was measured using sleep diaries and actigraphy. After this period the sleep diaries were reviewed to determine if the sleep problem fulfilled the eligibility criteria. Eligible participants were randomised and followed for 12 weeks. Interventions: Melatonin or placebo capsules in doses of 0.5 mg, 2 mg, 6mg and 12 mg for a period of 12 weeks. The starting dose was 0.5 mg and the dose could be escalated through 2 mg and 6 mg to 12 mg during the first 4 weeks, at the end of which the child was maintained on that dose. Main outcome measures: The primary outcome was total night-time sleep time (TST) calculated using sleep diaries at 12 weeks compared with baseline. Secondary outcome measures included TST calculated using actigraphy data, sleep-onset latency (SOL) (time taken to fall asleep), sleep efficiency, Composite Sleep Disturbance Index score, global measure of child's sleep quality, Aberrant Behaviour Checklist, Family Impact Module of the Pediatric Quality of Life Inventory (PedsQL (TM)), the Epworth Sleepiness Scale, number and severity of seizures and adverse events. Salivary melatonin concentrations and association of genetic variants with abnormal melatonin production were also investigated. Results: A total of 275 children were screened to enter the trial; 263 (96%) children were registered and completed the 4- to 6-week behaviour therapy period and 146 (56%) children were randomised, of whom 110 (75%) contributed data for the primary outcome. The difference in TST time between the melatonin and placebo groups adjusted for baseline was 22.43 minutes [95% confidence interval (Cl) 0.52 to 44.34 minutes; p = 0.04] measured using sleep diaries. A reduction in SOL, adjusted for baseline, was seen for melatonin compared with placebo when measured by sleep diaries (-37.49 minutes, 95% CI -55.27 to -19.71 minutes; p < 0.0001) and actigraphy (-45.34 minutes, 95% CI -68.75 to -21.93 minutes; p=0.0003). There were no significant differences between the two groups in terms of the reporting of adverse events. The results of other secondary outcomes favoured melatonin but were not statistically significant. Conclusions: On average, the children treated with melatonin slept 23 minutes longer than those in the placebo group; however, the upper limit of the confidence interval was less than 1 hour, the minimum clinically worthwhile difference specified at the outset of the trial. Melatonin is effective in reducing SOL in children with neurodevelopmental delay by a mean of 45 minutes; a value of 30 minutes was specified a priori to be clinically important. Future studies should be conducted over longer periods and directly compare different formulations of melatonin with conventional hypnotic and sedative medications. It would also be important to study groups of children with specific neurological disorders. Trial registration: Current Controlled Trials ISRCTN05534585.
Appleton R E; Jones A P; Gamble C; Williamson P R; Wiggs L; Montgomery P; Sutcliffe A; Barker C; Gringras P
Health Technology Assessment
2012
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<a href="http://doi.org/10.3310/hta16400" target="_blank" rel="noreferrer noopener">10.3310/hta16400</a>
Implications of the Growing Use of Freestanding Children's Hospitals
Fieldston ES; Altschuler SM
Archives Of Pediatrics & Adolescent Medicine
2012
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Journal Article
<a href="http://doi.org/10.1001/2013.jamapediatrics.126" target="_blank" rel="noreferrer">10.1001/2013.jamapediatrics.126</a>
What Can Be Learned by Residents Caring for Children With Lifelong, Chronic, Complex Conditions?
McMillan JA
Archives Of Pediatrics & Adolescent Medicine
2012
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Journal Article
<a href="http://doi.org/10.1001/2013.jamapediatrics.406" target="_blank" rel="noreferrer">10.1001/2013.jamapediatrics.406</a>
Factors important to patients' quality of life at the end of life
Female; Humans; Male; United States; Neoplasms; Terminal Care; Physician-Patient Relations; Terminally Ill; Adult; Follow-Up Studies; Prospective Studies; Aged; Middle Aged; Attitude to Death; caregivers; Drug Therapy; quality of life; Models; Meditation; Pastoral Care; Statistical
BACKGROUND: When curative treatments are no longer options for patients dying of cancer, the focus of care often turns from prolonging life to promoting quality of life (QOL). Few data exist on what predicts better QOL at the end of life (EOL) for advanced cancer patients. The purpose of this study was to determine the factors that most influence QOL at the EOL, thereby identifying promising targets for interventions to promote QOL at the EOL. METHODS: Coping With Cancer is a US multisite, prospective, longitudinal cohort study of 396 advanced cancer patients and their informal caregivers who were enrolled from September 1, 2002, through February 28, 2008. Patients were followed up from enrollment to death a median of 4.1 months later. Patient QOL in the last week of life was a primary outcome of Coping With Cancer and the present report. RESULTS: The following set of 9 factors, preceded by a sign indicating the direction of the effect and presented in rank order of importance, explained the most variance in patients' QOL at the EOL: 1 = (-) intensive care unit stays in the final week (explained 4.4% of the variance in QOL at the EOL), 2 = (-) hospital deaths (2.7%), 3 = (-) patient worry at baseline (2.7%), 4 = (+) religious prayer or meditation at baseline (2.5%), 5 = site of cancer care (1.8%), 6 = (-) feeding-tube use in the final week (1.1%), 7 = (+) pastoral care within the hospital or clinic (1.0%), 8 = (-) chemotherapy in the final week (0.8%), and 9 = (+) patient-physician therapeutic alliance at baseline (0.7%). The vast majority of the variance in QOL at the EOL, however, remained unexplained. CONCLUSION: Advanced cancer patients who avoid hospitalizations and the intensive care unit, who are less worried, who pray or meditate, who are visited by a pastor in the hospital/clinic, and who feel a therapeutic alliance with their physicians have the highest QOL at the EOL.
Zhang B; Nilsson ME; Prigerson HG
Archives Of Internal Medicine
2012
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Journal Article
<a href="http://doi.org/10.1001/archinternmed.2012.2364" target="_blank" rel="noreferrer">10.1001/archinternmed.2012.2364</a>
Survival without disability to age 5 years after neonatal caffeine therapy for apnea of prematurity
Child; Female; Humans; infant; Male; Follow-Up Studies; Treatment Outcome; Survival Analysis; Odds Ratio; Child Development; Incidence; Preschool; infant; Newborn; Premature; Apnea/drug therapy; Blindness/epidemiology/etiology/prevention & control; Caffeine/adverse effects/therapeutic use; Central Nervous System Stimulants/adverse effects/therapeutic use; Cerebral Palsy/epidemiology; Cognition Disorders/epidemiology/etiology/prevention & control; Deafness/epidemiology/etiology/prevention & control; Developmental Disabilities/epidemiology/etiology/prevention & control; N2N; Very Low Birth Weight
CONTEXT: Very preterm infants are prone to apnea and have an increased risk of death or disability. Caffeine therapy for apnea of prematurity reduces the rates of cerebral palsy and cognitive delay at 18 months of age. OBJECTIVE: To determine whether neonatal caffeine therapy has lasting benefits or newly apparent risks at early school age. DESIGN, SETTING, AND PARTICIPANTS: Five-year follow-up from 2005 to 2011 in 31 of 35 academic hospitals in Canada, Australia, Europe, and Israel, where 1932 of 2006 participants (96.3%) had been enrolled in the randomized, placebo-controlled Caffeine for Apnea of Prematurity trial between 1999 and 2004. A total of 1640 children (84.9%) with birth weights of 500 to 1250 g had adequate data for the main outcome at 5 years. MAIN OUTCOME MEASURES: Combined outcome of death or survival to 5 years with 1 or more of motor impairment (defined as a Gross Motor Function Classification System level of 3 to 5), cognitive impairment (defined as a Full Scale IQ<70), behavior problems, poor general health, deafness, and blindness. RESULTS: The combined outcome of death or disability was not significantly different for the 833 children assigned to caffeine from that for the 807 children assigned to placebo (21.1% vs 24.8%; odds ratio adjusted for center, 0.82; 95% CI, 0.65-1.03; P = .09). The rates of death, motor impairment, behavior problems, poor general health, deafness, and blindness did not differ significantly between the 2 groups. The incidence of cognitive impairment was lower at 5 years than at 18 months and similar in the 2 groups (4.9% vs 5.1%; odds ratio adjusted for center, 0.97; 95% CI, 0.61-1.55; P = .89). CONCLUSION: Neonatal caffeine therapy was no longer associated with a significantly improved rate of survival without disability in children with very low birth weights who were assessed at 5 years.
Schmidt B; Anderson PJ; Doyle LW; Dewey D; Grunau RE; Asztalos EV; Davis PG; Tin W; Moddemann D; Solimano A; Ohlsson A; Barrington KJ; Roberts RS; Trial Investigators Caffeine for Apnea of Prematurity (CAP)
Jama
2012
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Journal Article
<a href="http://doi.org/10.1001/jama.2011.2024" target="_blank" rel="noreferrer">10.1001/jama.2011.2024</a>
The retreat from advanced care planning
Humans; United States; Advance Directives; Physician-Patient Relations; Patient Protection and Affordable Care Act; Patient-Centered Care; decision making; Advance Care Planning/economics/trends; Centers for Medicare and Medicaid Services (U.S.); Insurance Coverage/legislation & jurisprudence; Journal of Palliative Medicine Briefings; Medicare/economics; Terminal Care/economics/standards
Tinetti ME
Jama
2012
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Journal Article
<a href="http://doi.org/10.1001/jama.2012.229" target="_blank" rel="noreferrer">10.1001/jama.2012.229</a>
Inpatient Growth and Resource Use in 28 Children's Hospitals: A Longitudinal, Multi-institutional Study
Berry JG; Hall M; Hall DE; Kuo DZ; Cohen E; Agrawal R; Mandl KD; Clifton H; Neff J
Archives Of Pediatrics & Adolescent Medicine
2012
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Journal Article
<a href="http://doi.org/10.1001/jamapediatrics.2013.432" target="_blank" rel="noreferrer">10.1001/jamapediatrics.2013.432</a>
Pediatric end-of-life decisions when abuse is suspected
Female; Humans; infant; United States; Terminal Care; Parental Consent; referral and consultation; Medical Futility; Withholding Treatment; Life Support Care; Emergency Medical Services; Brain Injuries; Child Abuse; Skull Fractures
Arias JJ; Weise KL
The Virtual Mentor: Vm
2012
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Journal Article
<a href="http://doi.org/10.1001/virtualmentor.2012.14.10.ecas3-1210" target="_blank" rel="noreferrer">10.1001/virtualmentor.2012.14.10.ecas3-1210</a>
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users
Humans; Information Dissemination; Terminology as Topic; Databases; Factual; Online Systems; Rare Diseases
Rare disorders are scarcely represented in international classifications and therefore invisible in information systems. One of the major needs in health information systems and for research is to share and/or to integrate data coming from heterogeneous sources with diverse reference terminologies. ORPHANET (www.orpha.net) is a multilingual information portal on rare diseases and orphan drugs. Orphanet information system is supported by a relational database built around the concept of rare disorders. Representation of rare diseases in Orphanet encompasses levels of increasing complexity: lexical (multilingual terminology), nosological (multihierarchical classifications), relational (annotations-epidemiological data-and classes of objects-genes, manifestations, and orphan drugs-integrated in a relational database), and interoperational (semantic interoperability). Rare disorders are mapped to International Classification of Diseases (10th version), SNOMED CT, MeSH, MedDRA, and UMLS. Genes are cross-referenced with HGNC, UniProt, OMIM, and Genatlas. A suite of tools allow for extraction of massive datasets giving different views that can be used in bioinformatics to answer complex questions, intended to serve the needs of researchers and the pharmaceutical industry in developing medicinal products for rare diseases. An ontology is under development. The Orphanet nomenclature is at the crossroads of scientific data repositories and of clinical terminology standards, and is suitable to be used as a standard terminology.
Rath A; Olry A; Dhombres F; Brandt MM; Urbero B; Segolene A
Human Mutation
2012
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Journal Article
<a href="http://doi.org/10.1002/humu.22078" target="_blank" rel="noreferrer">10.1002/humu.22078</a>
What do plasma beta-endorphin levels reveal about endogenous opioid analgesic function?
Female; Humans; Male; Adult; Middle Aged; Double-Blind Method; Cross-Over Studies; beta-Endorphin/blood; Biomarkers of Pain; Acute Pain/blood/physiopathology; Analgesia/methods; Chronic Pain/blood/physiopathology; Low Back Pain/blood/physiopathology; Naloxone/pharmacology; Narcotic Antagonists/pharmacology; Pain Measurement/drug effects; Pain Threshold/drug effects/physiology; Physical Stimulation
Bruehl S; Burns JW; Chung OY; Chont M
European Journal Of Pain
2012
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Journal Article
<a href="http://doi.org/10.1002/j.1532-2149.2011.00021.x" target="_blank" rel="noreferrer">10.1002/j.1532-2149.2011.00021.x</a>
A revision of the intensity of treatment rating scale: classifying the intensity of pediatric cancer treatment
Child; Female; Humans; Male; Questionnaires; adolescent; Preschool; Antineoplastic Combined Chemotherapy Protocols/classification/therapeutic use; Disease Specific; Neoplasms/drug therapy
Kazak AE; Hocking MC; Ittenbach RF; Meadows AT; Hobbie W; DeRosa BW; Leahey A; Kersun L; Reilly A
Pediatric Blood & Cancer
2012
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Journal Article
<a href="http://doi.org/10.1002/pbc.23320" target="_blank" rel="noreferrer">10.1002/pbc.23320</a>
Usefulness of consecutive biomarkers measurement in the management of community-acquired pneumonia.
Female; Humans; Male; Adult; Prognosis; Aged; Middle Aged; Severity of Illness Index; Survival Analysis; Critical Care; 80 and over; Biomarkers/blood; Community-Acquired Infections/complications/diagnosis/etiology/pathology; Diagnostic Tests; Pneumonia/diagnosis/etiology/pathology; Routine/methods
The aim of this study was to investigate whether procalcitonin (PCT), neopterin,
Lacoma A; Rodriguez N; Prat C; Ruiz-Manzano J; Andreo F; Ramirez A; Bas A; Perez M; Ausina V; Dominguez J
European Journal Of Clinical Microbiology & Infectious Diseases
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1007/s10096-011-1381-0" target="_blank" rel="noreferrer">10.1007/s10096-011-1381-0</a>
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
Female; Humans; Pregnancy; Mutation; Prenatal Diagnosis; Brain; Animals; Phenotype; Adrenoleukodystrophy; ATP-Binding Cassette Transporters; Fatty Acids
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop symptoms by the age of 60years. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane protein. ALDP deficiency impairs the peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) and facilitates their further chain elongation by ELOVL1 resulting in accumulation of VLCFA in plasma and tissues. While all patients have mutations in the ABCD1 gene, there is no general genotype-phenotype correlation. Environmental factors and a multitude of modifying genes appear to determine the clinical manifestation in this monogenetic but multifactorial disease. This review focuses on the clinical, biochemical, genetic and pathophysiological aspects of X-ALD.
Kemp S; Berger J; Aubourg P
Biochimica Et Biophysica Acta
2012
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Journal Article
<a href="http://doi.org/10.1016/j.bbadis.2012.03.012" target="_blank" rel="noreferrer">10.1016/j.bbadis.2012.03.012</a>
Cognitive effects of interictal epileptiform discharges in children
Child; Epilepsy; Cognition; EEG; Epileptiform; Spike
Ebusemail S; Arends J; Hendriksen J; van der Horst E; de la Parra N; Hendriksen R; Santegoeds E; Boon P; Aldenkamp B
European Journal Of Paediatric Neurology
2012
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Journal Article
<a href="http://doi.org/10.1016/j.ejpn.2012.05.010" target="_blank" rel="noreferrer">10.1016/j.ejpn.2012.05.010</a>