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1.

Background

Dystonia is characterised by involuntary movements and postures. Deep Brain Stimulation (DBS) is effective in reducing dystonic symptoms in primary dystonia in childhood and to lesser extent in secondary dystonia. How families and children decide to choose DBS surgery has never been explored.

Aims

To explore parental decision-making for DBS in paediatric secondary dystonia.

Methods

Data was gathered using semi-structured interviews with eight parents of children with secondary dystonia who had undergone DBS. Interviews were analysed using Interpretative Phenomenological Analysis.

Results

For all parents the decision was viewed as significant, with life altering consequences for the child. These results suggested that parents were motivated by a hope for a better life and parental duty. This was weighed against consideration of risks, what the child had to lose, and uncertainty of DBS outcome. Decisions were also influenced by the perspectives of their child and professionals.

Conclusions

The decision to undergo DBS was an ongoing process for parents, who ultimately were struggling in the face of uncertainty whilst trying to do their best as parents for their children. These findings have important clinical implications given the growing referrals for consideration of DBS childhood dystonia, and highlights the importance of further quantitative research to fully establish the efficacy of DBS in secondary dystonia to enhance informed decision-making.  相似文献   

2.

Background

Data on paediatric deep brain stimulation (DBS) is limited, especially for long-term outcomes, because of small numbers in single center series and lack of systematic multi-center trials.

Objectives

We seek to systematically evaluate the clinical outcome of paediatric patients undergoing DBS.

Methods

A German registry on paediatric DBS (GEPESTIM) was created to collect data of patients with dystonia undergoing DBS up to the age of 18 years. Patients were divided into three groups according to etiology (group 1 inherited, group 2 acquired, and group 3 idiopathic dystonia).

Results

Data of 44 patients with a mean age of 12.8 years at time of operation provided by 6 German centers could be documented in the registry so far (group 1 n = 18, group 2 n = 16, group 3 n = 10). Average absolute improvement after implantation was 15.5 ± 18.0 for 27 patients with pre- and postoperative Burke-Fahn-Marsden Dystonia Rating scale movement scores available (p < 0.001) (group 1: 19.6 ± 19.7, n = 12; group 2: 7.0 ± 8.9, n = 8; group 3: 19.2 ± 20.7, n = 7). Infection was the main reason for hardware removal (n = 6). 20 IPG replacements due to battery expiry were necessary in 15 patients at 3.7 ± 1.8 years after last implantation.

Discussion

Pre- and postoperative data on paediatric DBS are very heterogeneous and incomplete but corroborate the positive effects of DBS on inherited and acquired dystonia. Adverse events including relatively frequent IPG replacements due to battery expiry seem to be a prominent feature of children with dystonia undergoing DBS. The registry enables collaborative research on DBS treatment in the paediatric population and to create standardized management algorithms in the future.  相似文献   

3.
Cochlear implants for sensorineural deafness in children is one of the most successful neuromodulation techniques known to relieve early chronic neurodisability, improving activity and participation. In 2012 there were 324,000 recipients of cochlear implants globally.

Aim

To compare cochlear implant (CI) neuromodulation with deep brain stimulation (DBS) for dystonia in childhood and explore relations between age and duration of symptoms at implantation and outcome.

Methods

Comparison of published annual UK CI figures for 1985–2009 with a retrospective cohort of the first 9 years of DBS for dystonia in children at a single-site Functional Neurosurgery unit from 2006 to 14.

Results

From 2006 to 14, DBS neuromodulation of childhood dystonia increased by a factor of 3.8 to a total of 126 cases over the first 9 years, similar to the growth in cochlear implants which increased by a factor of 4.1 over a similar period in the 1980s rising to 527 children in 2009. The CI saw a dramatic shift in practice from implantation at >5 years of age at the start of the programme towards earlier implantation by the mid-1990s. Best language results were seen for implantation <5 years of age and duration of cochlear neuromodulation >4 years, hence implantation <1 year of age, indicating that severely deaf, pre-lingual children could benefit from cochlear neuromodulation if implanted early. Similar to initial CI use, the majority of children receiving DBS for dystonia in the first 9 years were 5–15 years of age, when the proportion of life lived with dystonia exceeds 90% thus limiting benefits.

Conclusion

Early DBS neuromodulation for acquired motor disorders should be explored to maximise the benefits of dystonia reduction in a period of maximal developmental plasticity before the onset of disability. Learning from cochlear implantation, DBS can become an accepted management option in children under the age of 5 years who have a reduced proportion of life lived with dystonia, and not viewed as a last resort reserved for only the most severe cases where benefits may be at their most limited.  相似文献   

4.

Background

Heterogeneous by the underlying pathobiology and clinical presentation, childhood onset dystonia is most frequently progressive, with related disability and limitations in functions of daily living. Consequently, there is an obvious need for efficient symptomatic therapies.

Methods and Results

Following lesional surgery to basal ganglia (BG) and thalamus, deep brain stimulation (DBS) is a more conservative and adjustable intervention to and validated for internal segment of the globus pallidus (GPi), highly efficient in treating isolated “primary” dystonia and associated symptoms such as subcortical myoclonus. The role of DBS in acquired, neurometabolic and degenerative disorders with dystonia deserves further exploration to confirm as an efficient and lasting therapy. However, the pathobiological background with distribution of the sequellae over the central nervous system and related clinical features, will limit DBS efficacy in these conditions. Cumulative arguments propose DBS in severe life threatening dystonic conditions called status dystonicus as first line therapy, irrespective of the underlying cause.There are no currently available validated selection criteria for DBS in pediatric dystonia. Concurrent targets such as subthalamic nucleus (STN) and several motor nuclei of the thalamus are under exploration and only little information is available in children. DBS programming in paediatric population was adopted from experience in adults. The choice of neuromodulatory DBS parameters could influence not only the initial therapeutic outcome of dystonic symptoms but also its maintenance over time and potentially the occurrence of DBS related side effects.

Conclusion

DBS allows efficient symptomatic treatment of severe dystonia in children and advances pathophysiological knowledge about local and distributed abnormal neural activity over the motor cortical-subcortical networks in dystonia and other movement disorders.  相似文献   

5.

Objectives

Tourette syndrome (TS) is a complex neuropsychiatric disorder associated with comorbid psychiatric disorders. Peak of tic severity typically occurs in early adolescence and impacts quality of life. Since 1999, promising therapeutic effects of Deep Brain Stimulation (DBS) have been reported in tic reduction for adults with refractory TS. The aim of the study was to assess the long-term risk-benefit ratio of pallidal DBS for young patients with refractory TS and severe comorbid psychiatric disorders.

Methods

We retrospectively assessed the long-term clinical outcomes of three adolescents who underwent pallidal DBS for the treatment of refractory TS.

Results

The mean duration of follow-up was 52 months in our case series. We observed that motor tics decreased with posteroventral GPi DBS in all patients, without reaching a continuous significance over the long-term follow-up. Self-reported social inclusion was globally improved, despite lack of efficacy of DBS on comorbid conditions.

Conclusions

These findings suggest a long-term therapeutic benefit of early DBS intervention for highly socially impaired young patients suffering from intractable TS with severe comorbid psychiatric conditions. Further studies are needed to determine the most effective targets of DBS on both tics and comorbid psychiatric profile of TS.  相似文献   

6.

Background

Interactive neuromodulation represents the evolving frontier in surgical treatment of a variety of disorders involving the sensory organs and nervous system. Building on the advances of pioneering neurologists and neurosurgeons, progress has been made since the introduction of deep brain stimulation (DBS). Microelectrode recording has greatly aided our understanding of the underlying pathogenesis of movement disorders and the effects of electrical stimulation. The introduction of image – guided systems to provide targeted, controlled neuro-stimulation to specific brain areas is an emerging technique for implantation and may have special appeal for pediatric patients.

Rationale/Aim

DBS is generally accepted as a treatment for some forms of childhood dystonia. Its potential role in other pediatric movement disorders is less well established. This is important, as most forms of dystonia begin in childhood or adolescence and many are inadequately responsive to current pharmacotherapy and other interventions. Nonetheless, many aspects of deep brain stimulation need clarification.

Conclusion

This can only be accomplished through an organized platform for data sharing that will allow questions to be asked and hopefully answered, with the ultimate goal of developing evidence based practice based guidelines elucidating the role of DBS in pediatric patients.  相似文献   

7.

Objectives

To evaluate the efficacy of intracranial stimulation to treat refractory epilepsy in children.

Methods

This is a retrospective analysis of a pilot study on all 8 children who had intracranial electrical stimulation for the investigation and treatment of refractory epilepsy at King's College Hospital between 2014 and 2015. Five children (one with temporal lobe epilepsy and four with frontal lobe epilepsy) had subacute cortical stimulation (SCS) for a period of 20–161 h during intracranial video-telemetry. Efficacy of stimulation was evaluated by counting interictal discharges and seizures. Two children had thalamic deep brain stimulation (DBS) of the centromedian nucleus (one with idiopathic generalized epilepsy, one with presumed symptomatic generalized epilepsy), and one child on the anterior nucleus (right fronto-temporal epilepsy). The incidence of interictal discharges was evaluated visually and quantified automatically.

Results

Among the three children with DBS, two had >60% improvement in seizure frequency and severity and one had no improvement. Among the five children with SCS, four showed improvement in seizure frequency (>50%) and one chid did not show improvement. Procedures were well tolerated by children.

Conclusion

Cortical and thalamic stimulation appear to be effective and well tolerated in children with refractory epilepsy. SCS can be used to identify the focus and predict the effects of resective surgery or chronic cortical stimulation. Further larger studies are necessary.  相似文献   

8.

Background

In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and comfort.

Aim

To examine effects of SDR on daily care and comfort in non-walking children with severe spasticity due to different underlying neurological conditions.

Methods

Medical history, changes in daily care and comfort and satisfaction with outcome were assessed retrospectively in non-walking children who underwent SDR in our center, with a mean follow-up of 1y 7m (range 11m–4y 3m). All eligible patients (n = 24, years 2009–2014) were included.

Results

Mean age at SDR was 12y 4m (SD 4y 3m, range 2y 8m–19y 3m). Associated orthopaedic problems were frequent. Seven patients underwent scoliosis correction in the same session. Most improvements were reported in dressing (n = 16), washing (n = 12) and comfort (n = 10). Median score for satisfaction was 7 on a scale of 10 (range 1–9). SDR resulted in reduction of spasticity in leg muscles. In nine patients dystonia was recorded post-operatively, mainly in children with congenital malformations and syndromes.

Interpretation

SDR is a single event intervention that can improve daily care and comfort in non-walking children with severe spasticity, and can safely be combined with scoliosis correction. Despite the improvements, satisfaction is variable. Careful attention is necessary for risk factors for dystonia, which may be unmasked after SDR.  相似文献   

9.

Background

Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term “DYT2 dystonia”. Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood.

Methods

73 patients with isolated dystonia of various distribution, manifesting within 21 years of age, were enrolled in this Italian study and underwent a mutational screening of HPCA gene by means of Sanger sequencing.

Results/conclusions

Mean age at onset was 10.2 (±5.1) years and mean age at the time of genetic testing was 33 (±14.2) years. Mean disease duration at the time of enrollment was 22.7 (±12.8) years. None of the patients enrolled was found to carry HPCA mutations, rising suspicion that these probably represent a very rare cause of dystonia in childhood-adolescence. Larger studies will help determining the real mutational frequency of this gene also in different ethnic groups.  相似文献   

10.

Background

We present an unusual neuroimaging finding in a young girl with genetically confirmed vanishing white matter disease and a possible response to immunotherapy.

Methods and results

2.5 yr old girl, presented with acute onset unsteadiness and encephalopathy following a viral illness. MRI showed global symmetric white matter abnormality, with symmetric enhancement of cranial nerves (III and V) and of cervical and lumbar roots. She received immunotherapy for her encephalopathic illness with white matter changes. Follow up neuroimaging showed resolution of white matter edema and resolution of the change in the brainstem.Genetic testing confirmed a diagnosis of vanishing white matter disease (VWMD).

Conclusion

Craniospinal nerve enhancement and possible response to immunotherapy has not been described in vanishing white matter disease.  相似文献   

11.

Background

Congenital indifference to pain with anhidrosis (CIPA) is a rare hereditary neuropathy, which is associated with defective sensation to noxious stimuli and autonomic dysfunction. The objective of the study was to report on the orthopaedic manifestations of this condition and provide an evidence-based approach for management.

Methods

Retrospective review of 14 consecutive patients with CIPA referred to a single tertiary centre. Mean age of diagnosis was 2.5 years (range 0.5 to 11 years).

Results

Patients presented with a range of orthopaedic problems including fractures, infections, growth disturbance, joint subluxation and Charcot joints affecting the limbs and spine. Conservative treatment with closed reduction and cast immobilisation was satisfactory for stress fractures of the lower extremity and Charcot joints. Posterior instrumented correction of scoliosis was associated with a high-risk of infection requiring reoperation for debridement and removal of posterior instrumentation. Growth disturbance leading to leg-length discrepancies were managed with shoe raises and corrective osteotomies. Aspiration and cultures may be used to differentiate between acute fracture and infection.

Conclusions

Preventative treatment strategies with appropriately padded shoe-wear, gait and posture modification, parental education regarding environmental thermoregulation, and behavioural support are essential for improving prognosis and reducing long-term complications.  相似文献   

12.
13.

Aim

To relate dystonia and choreoathetosis with activity, participation and quality of life (QOL) in children and youth with dyskinetic Cerebral Palsy (CP).

Methods

Fifty-four participants with dyskinetic CP (mean age 14y6m, SD 4y2m, range 6–22y) were included. The Dyskinesia Impairment Scale (DIS) was used to evaluate dystonia and choreoathetosis. Activity, participation and quality of life (QOL) were assessed with the Gross Motor Function Measure (GMFM), the Functional Mobility Scale (FMS), the Jebsen-Taylor Hand Function Test (JTT), the ABILHAND-Kids Questionnaire (ABIL-K), the Life Habits Kids (LIFE-H) and the Quality of Life Questionnaire for children with CP (CP-QOL). Spearman's rank correlation coefficient (rs) was used to assess the relationship between the movement disorders and activity, participation and QOL measures.

Results

Significant negative correlations were found between dystonia and the activity scales with Spearman's rank correlation coefficient (rs) varying between ?0.65 (95% CI = ?0.78 to ?0.46) and ?0.71 (95% CI = ?0,82 to ?0.55). Correlations were also found with the LIFE-H (rs = ?0.43; 95%CI = ?0.64 to ?0.17) and the CP-QOL (rs = ?0.32; 95%CI = ?0.56 to ?0.03). As far as choreoathetosis is concerned, no or only weak relationships were found with the activity, participation and quality of life scales.

Interpretation

This cross-sectional study is the first to examine the relationship of dystonia and choreoathetosis in dyskinetic CP with the level of activity, participation and QOL. The results revealed dystonia has a higher impact on activity, participation and quality of life than choreoathetosis. These findings seem to suggest it is necessary to first focus on dystonia reducing intervention strategies and secondly on choreoathetosis.  相似文献   

14.

Introduction

Chronic pain in children has been an under-recognized problem compared to adult pain. The aim of management is to help children and their families cope with the symptoms rather than a cure. Current medical treatments to reduce pain intensity are often short lived, poorly tolerated or ineffective.

Results

The use of electrical stimulation to treat pain is the current basis of modern Neuromodulation at the spinal cord and has been well established as spinal cord stimulation in adult practice. This involves placement of an epidural electrode connected to a subcutaneous implanted pulse generator. The electrode generates an electrical field at the dorsal columns of the spinal cord that inhibits pain pathways. Randomised controlled trials have demonstrated efficacy in neuropathic pain states such as the failed back surgery syndrome and complex regional pain syndrome.

Conclusion

Despite its initial expense, Spinal cord stimulation is a cost effective therapy in the long term and has the advantages of being a minimally invasive therapy and reversible.  相似文献   

15.

Background

The aim of this study was to assess the incidence rate and prevalence of autoimmune myasthenia gravis (MG) among children in Norway.

Methods

This retrospective population-based study was performed in Norway from January 2012 to December 2013. Cases of juvenile MG (JMG) with onset < 18 years were identified through searches in coding systems of electronic patient records at the 15 main hospitals in Norway from 1989 to 2013. In addition, the acetylcholine receptor antibody database at Haukeland University Hospital and the clinical nationwide MG database at Oslo University Hospital were searched for cases of JMG. Diagnosis and age at onset were verified through medical records. Incidence and prevalence rates were calculated using the Norwegian population as reference.

Results

In total 63 unique JMG cases were identified. This corresponds to an average annual incidence rate of 1.6 per million. Incidence rate was stable over the study period. Prevalence of JMG was 3.6–13.8 per million. Females constituted the majority of JMG cases (55 vs 8 males). The risk of JMG was higher among females both in the postpubertal and prepubertal group (p < 0.001 and p = 0.02, respectively).

Conclusion

This study confirms the rarity of JMG in Norway, especially among males, and shows a stable incidence rate over the last 25 years.  相似文献   

16.

Background

Annually 14.000 children with traumatic brain injury (TBI) are admitted to the Emergency Department (ED) in the Netherlands. Presentation varies and a specific entity comprises the juvenile head trauma syndrome (JHTS) with secondary deterioration after a mild trauma. As outcome of JHTS can be fatal, early recognition is essential.

Aim

To outline the epidemiology and clinical features of JHTS, in comparison to paediatric mild TBI patients without JHTS.

Methods

Retrospective study of 570 patients with mild TBI admitted to the ED of a level-one trauma centre from 2008 to 2014. Diagnosis of JHTS by experienced neurologists was compared with diagnosis by physicians at the ED.

Results

Physicians at the ED diagnosed JHTS more frequently (14%) compared to experienced neurologists (8%). JHTS occurred after a lucid interval varying from 5 to 225 min (mean 44 (SD 64)) with changes in consciousness. JHTS patients were younger compared to mild TBI patients (4.1 (SD 2.4) vs. 7.3 (SD 5.7), p < 0.01), (range: 1–10 years). Falls occurred more often in JHTS (84% vs. 69%, p = 0.03) and at presentation, vomiting (42% vs. 22%, p < 0.01) and changed behaviour (29% vs. 1%, p = 0.03) were more present compared to the mild TBI group.

Conclusion and discussion

JHTS occurs more often in children up to 10 years with falls as major cause of injury. Clues for recognition of this syndrome comprise changes in consciousness and vomiting or changed behaviour on presentation at the ED. For clinical practice, these factors should guide the decision for hospital admission or discharge.  相似文献   

17.

Objective

Acute disseminating encephalomyelitis (ADEM) is an inflammatory demyelinating disease affecting the central nervous system and mainly occurs in young children. Children who initially presented with ADEM can be diagnosed with multiple sclerosis (MS) in case new non-encephalopathic clinical symptoms occur with new lesions on MRI at least three months after onset of ADEM. We aim to study the timing of MRI abnormalities related to the evolution of clinical symptoms in our Dutch paediatric ADEM cohort.

Methods

The Dutch database for acquired demyelinating syndromes (ADS) was screened for children under age eighteen fulfilling the international consensus diagnostic criteria for ADEM. Children were eligible when the first MRI was performed within the first three months after onset of clinical symptoms and at least one brain follow-up MRI was available for evaluation. Forty-two children with ADEM were included (median age four years two months). All available MRIs and medical records were assessed and categorised as ‘improved’, ‘deteriorated’ and ‘unchanged’.

Results

We found that during clinical recovery, new lesions and enlargement of existing MRI lesions occurred in the first three months in about 50% of the performed MRIs. In contrast, this was rarely seen more than three months after first onset of ADEM.

Conclusion

We recommend to perform a brain MRI as a reference scan three months after onset. Follow-up imaging should be compared with this scan in order to prevent an incorrect diagnosis of MS after ADEM.  相似文献   

18.

Background

Traumatic brain injury constitutes a persistent health problem among pediatric populations worldwide and is often referred to as a silent epidemic. There remains a paucity of scientific exploration with regard to understanding the ecological risk profiles of well-defined populations. In Finland, the healthcare system covers all hospitals, provides uniform access to care and has a universal surveillance system that allows for epidemiological examination of a wide variety of health issues. The present study aims to clarify the incidence, type and geographical presentation of pediatric TBI in Finland.

Methods

We utilized the National Hospital Discharge Register (NHDR) to prospectively identify all new cases of TBI among persons aged 18 years or younger between 1998 and 2012. Incidence rates were computed as average annual rates per 100,000 person years (py).

Results

During the study period 1998–2012, 21,457 children and adolescents were hospitalized for TBI. The cumulative incidence rate for the entire period was 99/100,000. Males were approximatively 1.5 times more likely to have sustained a TBI and had consistently higher rates during each year under study. Concussions were the most common form of TBI (92.9/100,000 person years), with diffuse brain injuries being the second most common (8.7/100,000 py). Diagnostic trends differed markedly with southern Finland experiencing the lowest rates of TBI when adjusted for population size.

Conclusions

TBI are serious and potentially disabling conditions. The elevated levels of pediatric TBI in Finland warrant increased attention.  相似文献   

19.

Purpose

This review summarises the need for MRI with in situ neuromodulation, the key safety challenges and how they may be mitigated, and surveys the current status of MRI safety for the main categories of neuro-stimulation device, including deep brain stimulation, vagus nerve stimulation, sacral neuromodulation, spinal cord stimulation systems, and cochlear implants.

Review summary

When neuro-stimulator systems are introduced into the MRI environment a number of hazards arise with potential for patient harm, in particular the risk of thermal injury due to MRI-induced heating. For many devices however, safe MRI conditions can be determined, and MRI safely performed, albeit with possible compromise in anatomical coverage, image quality or extended acquisition time.

Conclusions

The increasing availability of devices conditional for 3 T MRI, whole-body transmit imaging, and imaging in the on-stimulation condition, will be of significant benefit to the growing population of patients benefitting from neuromodulation therapy, and open up new opportunities for functional imaging research.  相似文献   

20.

Introduction

Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients.

Methods

Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene. Seven infants had an MRI in the neonatal period, two had a follow-up MRI at the age of 6 and 18 months and one only at 13 months. One patient had follow-up MRIs at 11 and 16 months and 3 and 6 years of age, but no neonatal MRI.

Results

All patients presented with refractory neonatal seizures on the first day of life after an uncomplicated pregnancy and term delivery. Six out of seven infants with a neonatal MRI had a characteristic MRI pattern, with punctate white matter lesions (PWML), which were no longer visible at the age of 6 months, but led to gliotic scarring visible on MRI at the age of 18 months. The same pattern of gliotic scarring was seen on the MRIs of the infant without a neonatal scan. One infant had signal abnormalities in the white matter suspected of PWML on T2WI, but these could not be confirmed on other sequences.

Conclusion

In infants presenting with therapy resistant seizures in the first days after birth, without a clear history of hypoxic-ischemic encephalopathy, but with PWML on their neonatal MRI, a diagnosis of SCL13A5 related epileptic encephalopathy should be considered.  相似文献   

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