INTRODUCTION: The identification of dystonia in addition to spasticity (mixed-tone) for individuals with cerebral-palsy (CP) is important, as it can alter clinical management. This study aims to examine if the inter-stri...INTRODUCTION: The identification of dystonia in addition to spasticity (mixed-tone) for individuals with cerebral-palsy (CP) is important, as it can alter clinical management. This study aims to examine if the inter-stride variability of conventionally used gait features can be used for recognizing mixed-tone during gait in individuals with CP. METHODS: Retrospective treadmill-based 3D gait-analysis data for 20 individuals (mean ± SD age 10.4 ± 3.3 years) with mixed-tone CP were extracted (mixed-tone-group). A control group of individuals diagnosed with spastic-CP and no dystonia during gait were individually matched (spastic-group). Gait-kinematics were evaluated using Spatiotemporal characteristics and the Gait-Profile-Score (GPS). Selective-motor-control was assessed by the dynamic-motor-control-index (walk-DMC). Inter-stride variability was calculated per-individual using the coefficient-of-variation (CV; (SD/mean)∗100). RESULTS: The mixed-tone-group presented with significantly smaller step-length and higher CV only in spatiotemporal parameters (p < 0.050). After controlling for walking-speed, only the CV for cadence remained significant (p < 0.001); a cut-off of 11.5 % CV in cadence could identify individuals with mixed-tone CP with 65 % sensitivity and 85 % specificity. INTERPRETATION: Larger inter-stride variability was identified for spatiotemporal characteristics in individuals with mixed-tone CP, compared to individuals with spastic CP. Capturing the highly variable movements may be a biomarker of dystonia during gait. Further prospective studies with larger sample size are needed.
OBJECTIVE: Given that pathogenic variants related to limb-girdle muscular dystrophies (LGMD) are rarely found in Turkish populations, we aim to characterize pathogenic genetic variants of LGMD associated with age of dise...OBJECTIVE: Given that pathogenic variants related to limb-girdle muscular dystrophies (LGMD) are rarely found in Turkish populations, we aim to characterize pathogenic genetic variants of LGMD associated with age of disease onset, family characteristics, final clinical status, and muscle biopsy findings. MATERIALS AND METHODS: We retrospectively evaluated adult patients with LGMD whose diagnoses were confirmed by genetic and/or muscle biopsy and who were being followed up in the Muscle Diseases Center of Izmir Tepecik Training and Research Hospital. We tested for LGMD genes on the DNA sample obtained from peripheral blood using the next-generation sequencing method on the MiSeq Platform (Illimunia, USA). A minor allele frequency of <0.01 in the GnomAD or ExAC database was used to filter for significant variants. Sanger sequencing was then conducted to validate the findings. Function prediction by SIFT, PolyPhen-2, and PROVEAN or CADD was carried out in missense pathogenic genes. RESULTS: A total of 13 LGMD subtypes were identified in 69 patients. Twenty-eight of the patients were male, and 41 were female. The mean age at disease onset was 14.98 years (minimum 1 year, maximum 30 years). Consanguinity was found in 51 (71.6 %) of the 69 patients. Our study included 23 patients with type R1 (calpainopathy), 16 with type R2 (dysferlinopathy), eight with type R3 (alpha sarcoglycanopathy), two with type R4 (beta sarcoglycanopathy), seven with type R5 (gamma sarcoglycanopathy), five with type R7 (telethoninopathy), one with type R8 (TRIM32), one with type R9 (dystroglycanopathy), one with type R10 (titinopathy), one with type R11 (POMT1), two with type R12 (anoctamin 5), one with type R14 (POMT2), and one with formerly type R18 (desminopathy). CONCLUSION: The importance of genetic diagnosis for LGMD is increasing, especially because treatment methods are being developed in this field that hold promise for truly treating the disease. This study adds to the emerging pattern of LGMD epidemiology demonstrating that the proportion of LGMD explained by known pathogenic genes is higher than that previously reported.
OBJECTIVES: This study aimed to assess neurological manifestations in French children hospitalized with SARS-CoV-2 infection. Secondary objectives were to evaluate the severity of these presentations and estimate the fre...OBJECTIVES: This study aimed to assess neurological manifestations in French children hospitalized with SARS-CoV-2 infection. Secondary objectives were to evaluate the severity of these presentations and estimate the frequency of long-term neurological sequelae. METHODS: A multicenter observational study was conducted, including 71 children hospitalized for neurological manifestations of SARS-CoV-2 infection from January 2020 to March 2022. RESULTS: The median age was 8.7 years (range 4.2-13), with 49 % being girls. The most common neurological manifestations were encephalitis and meningoencephalitis (32 %). Brain imaging was abnormal in 68 % of cases. Half of the children required admission in intensive care unit (ICU). Nearly one-third of the children had neurological symptoms at the end of the follow-up, with cognitive difficulties being the most reported complaints. No significant associations were made between sex, age, neurological comorbidities, and the severity nor presence of sequelae. However, abnormal brain imaging was significantly associated with a higher risk of ICU stay (OR = 8.01 [95 % CI 2.37-27.1], p < 0.01) and with the presence of sequelae at discharge (OR = 4.65 [1.45-14.9], p = 0.011) and last follow-up (OR = 5.14 [1.40-18.9], p = 0.015). CONCLUSION: Although rare, neurological manifestations in children with SARS-CoV-2 infection can be severe, with encephalitis as the most common clinical presentation. Abnormal brain imaging is a strong prognostic marker of acute severity and long-term neurological and cognitive sequelae. Objective assessment tools and longer follow-up are necessary to evaluate the long-term outcomes in these children.
Menicucci L, Mane M, Roubertie A
… +10 more, Boespflug-Tanguy O, Damaj L, Delignieres A, Perrin L, Rodriguez D, Dorboz I, Koenig M, Burglen L, Durand N, Sarret C
Atypical neuroaxonal dystrophy (ANAD) is a rare form of neurodegeneration linked to the PLA2G6 gene. Unlike classical infantile neuroaxonal dystrophy (INAD), it occurs later in childhood and seems less progressive. It ap...Atypical neuroaxonal dystrophy (ANAD) is a rare form of neurodegeneration linked to the PLA2G6 gene. Unlike classical infantile neuroaxonal dystrophy (INAD), it occurs later in childhood and seems less progressive. It appears phenotypically different from juvenile form of Parkinson disease linked to PLA2G6 (PARK14). A genotype-phenotype correlation has been suggested. We describe a large genetically confirmed cohort of pediatric patients with ANAD, describe their clinical symptomatology, brain imaging, other complementary explorations, symptomatic medication and compare to patients reported in the literature. Fourteen patients were identified with early childhood onset and slowly progressive cerebello-spastic syndrome with variable dystonia and parkinsonism. Complementary investigations were inconsistently abnormal compared to INAD, with variable iron deposits on brain imaging, infrequent rapid rhythms on EEG and absence of neuronal spheroids on skin biopsy leading to diagnosis difficulties in absence of large molecular analysis. Nine of the seventeen reported variants were novel variants and a relative genotype-phenotype correlation was confirmed. This study reports a large cohort of ANAD, providing new insights into this paediatric phenotype; which is less frequently described in the literature compared to INAD or PARK14.
INTRODUCTION: Cerebrospinal fluid (CSF) cytokines may contribute to immune-mediated processes affecting the central nervous system (CNS). We evaluated CSF cytokine profiles in children with suspected neuroinflammatory co...INTRODUCTION: Cerebrospinal fluid (CSF) cytokines may contribute to immune-mediated processes affecting the central nervous system (CNS). We evaluated CSF cytokine profiles in children with suspected neuroinflammatory conditions to explore their clinical relevance. METHODS: Between 2019 and 2024, CSF from children <18 years were analyzed using BD Biosciences cytokine bead array for interleukin-2 (IL-2), IL-4, IL-6, IL-10, interferon-alpha (IFN-α), and tumour necrosis-factor-alpha (TNF-α). Clinical phenotyping was conducted. Serum cytokine levels were measured in cases with abnormal CSF, when available. RESULTS: 112 patients were included (median age 6 years [IQR 3.6-11.2]; 54 % male). CSF IL-6 was raised in 35/112 (31 %; median 107 pg/ml, IQR 24-329). No other cytokine was raised without concurrent IL-6. Raised CSF IL-6 occurred in 16/50 acquired neuroimmune conditions (including myelin oligodendrocyte glycoprotein antibody-associated disease, seronegative demyelination, seronegative autoimmune encephalitis, and febrile-infection-related epilepsy syndrome), 5/9 CNS infections; 9/17 monogenic autoinflammatory syndromes, and 5/7 cancer treatment-related neurotoxicities. Of the 35 patients with raised CSF IL-6, 21 had serum cytokines tested; 13 (62 %) showed elevated serum IL-6. In demyelinating cases, higher IL-6 was associated with increased CSF protein (p = 0.007). Follow-up CSF samples (n = 16, median 34 days) showed persistent elevation in 7 and normalisation in 9. IL-6 inhibitors (tocilizumab and/or siltuximab) were used in 10 patients with variable outcomes, depending on the underlying etiology. CONCLUSIONS: CSF IL-6 was the most frequently elevated cytokine in our cohort, observed across a range of primary and secondary neuroinflammatory disorders. While not diagnostic of a specific condition, its elevation may help guide treatment decisions.
The prevalence of cognitive impairment after childhood stroke is high and various risk factors influence long-term cognitive outcome. Whether and how risk factors are associated with cognitive outcome is still incomplete...The prevalence of cognitive impairment after childhood stroke is high and various risk factors influence long-term cognitive outcome. Whether and how risk factors are associated with cognitive outcome is still incompletely understood. This study investigated how lesion volume, lesion location and neurological functions at discharge, 6 months and 2 years after childhood stroke contribute to long-term cognitive outcome. This observational study included patients after childhood arterial ischemic stroke. Long-term cognitive outcome (intelligence, processing speed, working memory) was assessed at least one year after stroke (Md = 3.52, IQR = 5.57). Neurological functions were measured using the pediatric stroke outcome measure at discharge, at 6-month and 2-year follow-up. Magnetic resonance imaging at stroke manifestation was applied to analyze acute to subacute lesion metrics (volume & location). 43 patients aged 6-23 years (Md = 6.17, IQR = 7.58) were enrolled in the study. Cognitive functions significantly correlated with lesion volume (processing speed: r = -.423, p = .005; working memory: r = -.478, p = .002). Working memory was worse if the left caudate nucleus was involved (U = 284.5, p < .001, d = 1.43). Long-term cognitive outcome correlated with neurological functions at discharge, 6-month and 2-year follow-up, although effects varied depending on the cognitive domain measured (discharge: r = .449, p = .003; 6-month; r = .509 to .538, p <.001; 2-year follow-up: r = .588 to .744, p <.001). Long-term cognitive outcome was associated with lesion volume, lesion location and neurological functions. Our study adds to the determination of risk factors for long-term cognitive rehabilitation and highlights the need for the combined evaluation of neurological and cognitive outcome.
We describe the reliability and clinical utility of the personal adjustment and role skills scale III (PARS-III) for screening of psychosocial adjustment in children with myotonic dystrophy type 1 (DM1). Data of 36 pedia...We describe the reliability and clinical utility of the personal adjustment and role skills scale III (PARS-III) for screening of psychosocial adjustment in children with myotonic dystrophy type 1 (DM1). Data of 36 pediatric DM1 patients were included from the Dutch MYODRAFT patient registry. Reliability was assessed using Cronbach's alpha. Associations between PARS-III scores and estimates of brain-related comorbidity and parent-reported physical disease burden were explored as possible factors affecting psychosocial adjustment. PARS-III data of children with DM1 in this study were compared to PARS-III data from children with Duchenne muscular dystrophy in order to describe specificity to the pediatric DM1 population. The PARS-III showed adequate internal consistency. PARS-III total scores correlated with parent-reported symptoms of autism spectrum disorder and attention deficit/hyperactivity disorder and parent-reported physical disease burden. No statistically significant associations were found with intelligence. Parents reported most problems in reduced social activity and reduced initiative. Reduced initiative was not associated with attention deficit/hyperactivity disorder, autism spectrum disorder or reported physical disease burden. Parents of children with DM1 reported more problems in initiative compared to parents of children with Duchenne muscular dystrophy. We conclude that the PARS-III is a reliable instrument for screening psychosocial adjustment in general and deficits in initiative in particular. More research is needed on this clinically relevant symptom as a possible brain-related comorbidity of children with DM1.
Nou-Fontanet L, Musokhranova U, Camacho AR
… +8 more, Chilavert VD, Insuga VS, Fernández LA, Alonso-Colmenero I, Arzimanoglou A, Cazorla ÁG, Oyarzabal A, Fons C
AFG2A-related encephalopathy (AFG2A-RE) is a neurodevelopmental disorder that may present with drug-resistant epilepsy (DRE). Our aims were: to evaluate the clinical response to a ketogenic diet (KD) in a series of patie...AFG2A-related encephalopathy (AFG2A-RE) is a neurodevelopmental disorder that may present with drug-resistant epilepsy (DRE). Our aims were: to evaluate the clinical response to a ketogenic diet (KD) in a series of patients with AFG2A-RE and DRE, and to describe the mitochondrial effects in patient's fibroblasts cultured in a KD mimicking medium (KD-MM). This was a collaborative, descriptive, and experimental study involving a total of five patients. The primary outcomes assessed following ketogenic diet (KD) treatment were the percentage of seizure reduction and the parents' global impression of change. Additionally, patient-derived fibroblasts (n = 3) were cultured in a KD-MM to evaluate effects on mitochondrial dynamics and metabolism. The mean age of the patients was 7.9 years, and four were males. All patients presented with developmental and epileptic encephalopathy with DRE, motor impairment, severe intellectual disability, deafness, and microcephaly. In all but one case, the initial epilepsy presentation was infantile epileptic spasms syndrome (IESS), with a mean age at onset of 13.6 months. Four patients received KD treatment for DRE, with seizure reduction rates of 0 %, 30 %, 70 % and 100 %, respectively. Improvement in social interaction improvement was observed in one patient, while improvements in attentional and motor function were noted in two. In vitro studies demonstrated that AFG2A-deficient fibroblasts exhibited altered mitochondrial morphology and dynamics, as well as reduced ATP production and ROS levels. These abnormalities were significantly reversed when the fibroblasts were cultured in KD-MM. In conclusion, this small series of patients with AFG2A-RE showed beneficial effects from KD treatment. Greater seizure control was achieved when the ketogenic diet was initiated during early childhood. These findings are preliminary and validation in multicenter prospective study is required.
BACKGROUND: Pediatric migraine is a debilitating neurological disorder frequently associated with patent foramen ovale (PFO). The roles of vasoactive substances (5-HT, ET-1) and inflammatory markers (PTX-3, TNF-α, CRP) i...BACKGROUND: Pediatric migraine is a debilitating neurological disorder frequently associated with patent foramen ovale (PFO). The roles of vasoactive substances (5-HT, ET-1) and inflammatory markers (PTX-3, TNF-α, CRP) in PFO-related pediatric migraine remain unclear. This study aimed to evaluate their predictive value and associations with clinical parameters. METHODS: A prospective cohort study enrolled 149 PFO patients (78 with pediatric migraine, 71 without) and 70 healthy controls. Serum levels of 5-HT, ET-1, PTX-3, TNF-α, PCT, and CRP were measured using ELISA. Clinical data, including pediatric migraine characteristics and PFO features (diameter, right-to-left shunt), were analyzed. Receiver operating characteristic (ROC) curves assessed biomarker performance, and logistic regression identified risk factors. RESULTS: 5-HT showed the highest individual predictive accuracy for pediatric migraine (AUC = 0.810), followed by PCT (AUC = 0.786) and PTX-3 (AUC = 0.707). ET-1 exhibited high specificity (99.1 %), while TNF-α and CRP demonstrated high sensitivity (91.1 %). A combined biomarker panel achieved superior performance (AUC = 0.911, specificity = 94.4 %). Elevated 5-HT (adjusted OR = 1.593, p = 0.026) and PTX-3 (adjusted OR = 1.752, p = 0.014) levels were independently associated with pediatric migraine risk after adjusting for covariates. CONCLUSION: 5-HT, PTX-3, and inflammatory markers are promising biomarkers for PFO-related pediatric migraine. A multi-marker approach significantly enhances risk prediction, supporting its potential for clinical stratification and targeted interventions.
AIM: To correlate SMN2 CN with age of disease onset, severity, motor ability and comorbidities across all SMA types from India. METHODS: This retrospective study involved the collection and analysis of clinical data, mot...AIM: To correlate SMN2 CN with age of disease onset, severity, motor ability and comorbidities across all SMA types from India. METHODS: This retrospective study involved the collection and analysis of clinical data, motor assessment scores, and SMN genetics from a cohort of 200 genetically confirmed SMA patients who were referred to our Paediatric Neuromuscular Centre over two years. RESULTS: Among the 200 subjects, 49 had SMA1, 82 had SMA2, 64 had SMA3, and 5 had SMA4. The majority of patients were male (59 %), and most hailed from the five Southern Indian states. Notably, 23 % of patients exhibited parental consanguinity. Our analysis revealed a strong correlation between the number of SMN2 copies and disease onset, as well as the achievement of developmental milestones. This trend was consistent with formal motor assessment scores and the presence and severity of co-morbidities, underscoring the pivotal role of SMN2 as a disease modifier. Additionally, we observed a small subset of patients with clinically diverse SMA types but identical SMN2 CN. INTERPRETATION: This study emphasizes the critical role of SMN2 as a disease modifier in SMA, as evidenced by its strong correlation with disease phenotype, motor scores, and the occurrence of co-morbidities. The findings underscore the importance of close monitoring and adherence to standard of care (SOC) protocols, which facilitate the proactive management of complications and co-morbidities. These practices contribute to an improved quality of life and better outcomes for SMA patients in the era of novel therapeutic approaches.
AIM: To facilitate the diagnosis of Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS) in children, we described the clinical features of a PANS cohort and analyzed whether immunotherapy could shorten the symptom dur...AIM: To facilitate the diagnosis of Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS) in children, we described the clinical features of a PANS cohort and analyzed whether immunotherapy could shorten the symptom duration. METHODS: We retrospectively analyzed the medical records of children with PANS at the Children's Hospital of Chongqing Medical University and categorized them into two groups on the basis of whether they received immunotherapy to compare symptom duration. RESULTS: Forty-two patients were included. Thirty-three children (76.2 %) had infection within 4 weeks before onset. Thirty-six (88.1 %) children had obsessive‒compulsive symptoms, 5 children (11.9 %) had eating disorders, and one child had both. Other common clinical manifestations included sleep disturbances (76.2 %, 32/42), academic difficulties (73.8 %, 31/42), irritability (66.7 %, 28/42), developmental regression (54.8 %, 23/42), motor abnormalities (52.4 %, 22/42), hallucinations (52.4 %, 22/42), anxiety (50 %, 21/42), aggression (40.5 %, 17/42), hyperesthesia (31.0 %, 13/42), and emotional lability (23.8 %, 10/42). One child had epileptiform discharges on the electroencephalogram (EEG), while the other 41 children had normal EEGs. Brain magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) analysis were normal in all the children. Immunotherapy was used in 12 patients, and there was not a significant difference in symptom duration between the two groups (immunotherapy group: median 17, IQR 14-21; nonimmunotherapy group: median 15, IQR 11-20; p = 0.275). CONCLUSIONS: PANS is usually triggered by infection and is accompanied by a variety of neuropsychiatric symptoms. In our retrospective small-sample study, immunotherapy did not shorten the duration of symptoms in children with PANS. However, further prospective studies are still needed to confirm its effectiveness.
OBJECTIVES: This study aims to examine dynamic balance, motor function, and fear of falling (FOF) as indicators of fall risk in children with Duchenne Muscular dystrophy (DMD). METHODS: This cross-sectional study include...OBJECTIVES: This study aims to examine dynamic balance, motor function, and fear of falling (FOF) as indicators of fall risk in children with Duchenne Muscular dystrophy (DMD). METHODS: This cross-sectional study included 92 children with DMD (ages 5-15; mean age 7.44 ± 2.10; mean BMI 17.70 ± 2.96), recruited from Shenzhen Children's Hospital between August 2023 and January 2024. Data collected included demographics, clinical characteristics, and fall history over the past month and year. Dynamic balance was assessed using the four-square step test (FSST), motor function with the motor function measure (MFM-32), 6-min walk test, and timed function tests (TFTs), and FOF using Lim's single-item question. RESULTS: 85.9 % reported falls in the past year, with 45.7 % classified as recurrent fallers (≥1 fall/week or day) and 51.1 % reporting recurrent falls (≥3) in the past month. FSST, MFM, and TFTs scores differed significantly between recurrent and non-recurrent fallers across both timeframes (FSST and MFM: p < 0.001; TFTs: p ≤ 0.01). FOF showed no significant group differences (month: p = 0.066; year: p = 0.054). FSST showed high accuracy in identifying recurrent fallers (AUC = 0.856-0.890; cut-off = 10.41s; sensitivity = 80.9 %-81.0 %; specificity = 88.0 %-95.6 %). In contrast, MFM and TFTs had limited discriminative value. CONCLUSION: Dynamic balance, as assessed by the FSST, is a sensitive and specific indicator for identifying recurrent fallers in children with DMD, supporting its clinical utility in fall risk screening and prevention.
Hereditary spastic paraplegias (HSPs) are genetically and clinically heterogeneous, slowly progressive neurological disorders characterized by primary involvement of the corticospinal tracts. The early-onset forms of HSP...Hereditary spastic paraplegias (HSPs) are genetically and clinically heterogeneous, slowly progressive neurological disorders characterized by primary involvement of the corticospinal tracts. The early-onset forms of HSP (EO-HSP) are often defined as "cerebral palsy mimics" since symptoms begin in infancy and manifest as spastic di- or tetraplegia and possible neurodevelopmental disorder. The rarity and heterogeneity of these disorders make their diagnosis challenging. In this single-center study, we focus on the outcomes and diagnostic detection rate of EO-HSP patients from a cohort of 104 consecutive HSP cases. The discussion highlights the genetic variability in cases of EO-HSP that tested positive through a series of molecular analyses, particularly those requiring further investigation via whole exome sequencing (WES). This approach has shed light on the etiopathogenetic role of 19 variants across 10 different genes (COQ4, FOXG1, GRIN2B, HPDL, LRP2, RBMX, SPART, TBCD, ZBTB11, and ZC4H2) in 14 patients with complex EO-HSP. Notably, most of these genes are not conventionally classified as HSP-related or included in the SPG classification on the Online Mendelian Inherited in Men (OMIM) catalog. We emphasize the importance of detailed genotype-phenotype correlations and the diagnostic potential of a highly specialized translational approach in clinically selected cases lacking molecular confirmation, thereby expanding our understanding of the genetic variability of EO-HSP.
BACKGROUND: Treatment decisions in metachromatic leukodystrophy (MLD), a rare life-threatening neurological disease, are challenging. Hematopoietic stem cell transplantation or autologous stem-cell-based gene therapy can...BACKGROUND: Treatment decisions in metachromatic leukodystrophy (MLD), a rare life-threatening neurological disease, are challenging. Hematopoietic stem cell transplantation or autologous stem-cell-based gene therapy can be life-changing but come with uncertainties, risks, and high costs. To address this, the international MLD treatment eligibility panel was established in collaboration with the European Reference Network on Rare Neurological Diseases. The panel reviews and discusses individual MLD cases and provides consensus-based recommendations on whether to treat and which treatment modality. The goal is to streamline international care and treatment counseling by providing uncomplicated access to expert opinion. METHODS: The panel operates according to a published standard operating procedure and was evaluated between September 2021-2024. Case data were recorded in a Castor EDC-based system and, with consent, included in the MLD Initiative (MLDi) patient registry. Physicians' experiences were assessed via EUsurvey, and patients' feedback was collected through an MLDi registry survey. FINDINGS: The panel discussed 43 cases, recommending treatment in 20, abstaining in 19, and reaching no consensus in 4. Open questions regarding cognitive function and lack of outcome data caused challenges in treatment recommendations in late-onset MLD patients. All treatment recommendations were followed. Physicians reported positive experiences with the panel. INTERPRETATION: The MLD treatment eligibility panel demonstrates how international expert advice can be streamlined across Europe for a rare disease like MLD, where disease-specific guidelines are still in development. By balancing complex clinical, social, and ethical parameters, the panel aids in encouraging appropriate use of innovative and costly therapies and guarantees accessibility to expert advice irrespective of country of origin.
INTRODUCTION/BACKGROUND: The study aims to investigate the effects of the MI (Motor Imagery) program applied in addition to the PTR (Physiotherapy and Rehabilitation) program on gait and balance in children with DMD (Duc...INTRODUCTION/BACKGROUND: The study aims to investigate the effects of the MI (Motor Imagery) program applied in addition to the PTR (Physiotherapy and Rehabilitation) program on gait and balance in children with DMD (Duchenne Muscular Dystrophy). METHODS: The 38 boys with DMD were included in the study and randomized into two groups: the PTR group (mean age: 7.96 ± 1.94 years) and the MI + PTR group (mean age: 9.03 ± 1.71 years). In the PTR group, the PTR program was administered 2 days/week for 8 weeks, and in the MI + PTR group, the MI program was administered 5 days/week in addition to the PTR program. Groups were assessed by the Brooke Lower Extremity Functional Classification Scale, Modified Pediatric Mini Mental Scale, Movement Imagery Questionnaire (MIQ-c), Kinovea® Software Program, Timed Up & Go Test (TUG), Timed Function Tests (TFT), Two-Minute Walk Test (2MWT), and Motor Function Measure (MFM-32). RESULTS: As a result of the study, in PTR Group, TFT-Stairs descending (p = 0.049) was improved. In MI + PTR Group, Kinovea® Software Program-Walking Speed (p = 0.003), 2MWT (p = 0.037), TFT-Stair descend and 10-m walk (respectively; p = 0.001; p = 0.039), and MFM-32-D1 (p = 0.036) were improved. According to the comparison between groups, the groups were not superior to each other (p > 0.05). DISCUSSION/CONCLUSION: Although the MI program applied in addition to the PTR program contributes to improvements in walking speed, walking distance, and functional performance in children with DMD, it does not demonstrate superiority over the PTR program alone.
BACKGROUND: Individuals with dystonia may experience acute exacerbations of symptoms. OBJECTIVES: We aimed to explore the role of serum creatinine kinase (CK) levels as a biomarker for dystonia severity during episodes o...BACKGROUND: Individuals with dystonia may experience acute exacerbations of symptoms. OBJECTIVES: We aimed to explore the role of serum creatinine kinase (CK) levels as a biomarker for dystonia severity during episodes of exacerbation. METHODS: A retrospective review of admissions to a paediatric tertiary centre due to Status Dystonicus over a 5-year period. A comprehensive scoping review of the published literature for SD and pre-SD was also undertaken. RESULTS: In total 58 admissions for 45 patients were identified. Dystonia Severity Action Plan (DSAP) was Grade 3 (pre-SD) for 41/58 admissions and Grade 4-5 (SD) for 17 admissions. Length of admission was significantly longer for SD (P < 0.005), with poorer outcomes (Fishers Exact test P < 0.001). CK levels were measured in 24/41 episodes of pre-SD, and 16/17 episodes of SD. Median peak CK levels were higher (729 IU/L) in the SD compared to pre-SD group (179.5 IU/L) (p = 0.009). For patients with SD, serial CK measurements tracked dystonia severity over time. Literature review identified 201 episodes of SD in 190 subjects. Note was made of CK measurement in 92/201 (45.8 %) episodes: pre-SD (DSAP 3) in 8 and SD in 84 [DSAP 4 (n = 30), and DSAP 5 (n = 54)] respectively, with a numerical value provided in in 73/90 episodes/cases. Median CK value was 4066 IU/L (884-22,105, 25th to 75th Centile). In the literature review, for 11 episodes serial CK measures were shown to correlate with severity of dystonic symptoms. CONCLUSIONS: serum CK levels represent a potentially useful biomarker for dystonia severity that differs between pre-SD and SD, and provide a measure to track dystonia severity at an individual patient basis.