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1.

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   

2.

Background

Cerebrospinal fluid (CSF) opening pressure (OP) of ≥28 cm H2O is now considered a diagnostic criterion for Pseudotumor cerebri syndrome (PTCS) in children. However, it has been proposed that a diagnosis of “probable” PTCS can be made with an OP < 28 cm H2O if other diagnostic criteria are met. We report a group of children with probable PTCS.

Methods

Retrospective analysis of 25 children diagnosed with PTCS but with a CSF OP below 28 cm H2O. Eleven patients were identified during a nation-wide, prospective, active hospital-based surveillance, and additional 14 patients from our own institution. An extensive chart review of these cases was performed in order to identify signs and symptoms supportive of PTCS.

Results

Of these 25 patients 23 were treated with acetazolamide. Five children required escalation of medical treatment. Findings supportive of PTCS in the absence of an abnormal OP were: papilledema (n = 24), abducens nerve palsy (n = 7), without papilledema in one of them, headache (n = 15). Six patients had a relapse. A second lumbar puncture (LP) documented an opening pressure of >30 cm H2O in seven children. MRI findings supportive of PTCS were seen in eight patients.

Conclusions

The diagnosis of probable PTCS as a subgroup of PTCS can be convincingly made in children with an OP < 28 cm H2O. Results of opening pressure measurement always need to be interpreted within the whole clinical context. Treatment decisions in patients with “probable” PTCS should follow the same stage-based principles as for “proven” PTCS.  相似文献   

3.

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   

4.

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   

5.

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   

6.

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   

7.

Background

Antibody-associated disorders of the central nervous system are increasingly recognised in adults and children. Some are known to be paraneoplastic, whereas in others an infective trigger is postulated. They include disorders associated with antibodies to N-methyl-d-aspartate receptor (NMDAR), voltage-gated potassium channel-complexes (VGKC-complex), GABAB receptor or glycine receptor (GlyR). With antibodies to NMDAR or VGKC-complexes, distinct clinical patterns are well characterised, but as more antibodies are discovered, the spectra of associated disorders are evolving. GlyR antibodies have been detected in patients with progressive encephalopathy with rigidity and myoclonus (PERM), or stiff man syndrome, both rare but disabling conditions.

Case Report

We report a case of a young child with focal seizures and progressive dyskinesia in whom GlyR antibodies were detected. Anticonvulsants and immunotherapy were effective in treating both the seizures and movement disorder with good neurological outcome and with a decline in the patient's serum GlyR-Ab titres.

Conclusion

Glycine receptor antibodies are associated with focal status epilepticus and seizures, encephalopathy and progressive dyskinesia and should be evaluated in autoimmune encephalitis.  相似文献   

8.

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   

9.

Rationale

The present study aims: (i) to determine how well developmental milestones at 4, 8, 12 and 24 months may predict IQ at 5–6 years old, (ii) to identify cognitive domains during the first two years that best predict later IQ and (iii) to determine whether children with IQ in the normal range at 5–6 years old may differ from disabled (IQ < 70) and gifted children (IQ > 130) with regard to their early cognitive development.

Method

The main developmental milestones were collected through self-administered questionnaires rated by parents at 4, 8, 12 and 24 months and through parental questionnaires administered by a trained interviewer and questionnaires completed following a medical examination at 12 months. These questionnaires were derived from the Brunet-Lézine Psychomotor Development Scale and they addressed several cognitive domains (gross and fine motor skills, language and socialization).

Results

(i) Developmental milestones predict a substantial part of the later IQ variance from 24 months (R2 ~ 20%). (ii) Early language skills more strongly predict later IQ than the other cognitive domains. (iii) Several cognitive domains, but particularly language skills, predict disabled children at 5–6 years old (from the age of 8 months) and gifted children (from the age of 12 months).

Discussion

The present study provides valuable information for early developmental assessment and could contribute to a better understanding of intellectual development.  相似文献   

10.

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   

11.

Background

Dystonia is characterised by involuntary movements (twisting, writhing and jerking) and postures. Secondary dystonias are described as a heterogeneous group of disorders with both exogenous and endogenous causes. There is a growing body of literature on the effects of deep brain stimulation (DBS) surgery on the motor function in childhood secondary dystonias, however research on cognitive function after DBS is scarce.

Methods

Cognitive function was measured in a cohort of 40 children with secondary dystonia following DBS surgery using a retrospective repeated measures design. Baseline pre-DBS neuropsychological measures were compared to scores obtained at least one year following DBS. Cognitive function was assessed using standardised measures of intellectual ability and memory.

Results

There was no significant change in the assessed domains of cognitive function following DBS surgery. A significant improvement across the group was found on the Picture Completion subtest, measuring perceptual reasoning ability, following DBS.

Conclusion

Cognition remained stable in children with secondary dystonia following DBS surgery, with some improvements noted in a domain of perceptual reasoning. Further research with a larger sample is necessary to further explore this, in particular to further subdivide this group to account for its heterogeneity. This preliminary data has potentially positive implications for the impact of DBS on cognitive functioning within the childhood secondary dystonia population.  相似文献   

12.

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   

13.

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   

14.

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   

15.

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   

16.
17.

Introduction

Mild traumatic brain injury is a common condition in childhood. Although classified as mild, post-concussive symptoms may persist and interfere with daily activities. Because no established guidelines exist with respect to follow-up medical care for these children, there may be a delay in receiving appropriate care. We developed a follow up program to screen for persistent symptoms and if necessary, refer patients for further medical assistance.

Methods

From July 2010 until December 2013, eligible children aged 4–18 years who presented after sustaining a mild traumatic brain injury were included. All patients received a phone call after 6 weeks. After a period of 3 months, both their schoolteacher and parents were asked to complete in a questionnaire. The results were discussed monthly by a multidisciplinary team.

Results

A total of 305 children were enrolled in our follow-up program. Headache was the most common acute symptom upon presentation (63%). Overall, 19% of all patients had problems, either at 6 weeks or 3 months. 14% of these patients were referred for special care. Most common persistent post-concussive symptoms were headache (32%), cognitive problems (23%) and behavioural problems (16%). After a period of two years, a review of patient charts revealed that all of the problems were resolved.

Conclusion

One fifth of the children exhibit post-concussive symptoms after mild traumatic brain injury. Education of patients and caregivers and a follow up visit if needed applied appropriate care at an early stage to minimise physical and mental problems.  相似文献   

18.

Objective

Encephalopathy with continuous spike-wave during sleep (CSWS) is a particularly difficult-to-treat childhood epileptic syndrome. This study sought to present the EEG improvement and clinical efficacy of topiramate (TPM), a broad spectrum antiepileptic drug (AED), in a series of 21 children with CSWS encephalopathy.

Methods

We retrospectively reviewed the EEG results and clinical data of children with CSWS followed-up in our institution and treated with TPM. Sleep EEGs were performed 0–3 months prior to TPM introduction and then at 3 and 12 months. The exclusion criteria were (1) introduction of another AED and (2) withdrawal of a potentially aggravating AED during the first 3 months of treatment. In addition to spike index (SI), the severity of EEG abnormalities was rated using an original scale that also considered the spatial extent of interictal epileptiform discharges.

Results

21 patients were included (18 males, 4-14y, three symptomatic cases). At 3 months, sleep EEG was improved in 14 and normalized in four (TPM doses: 2–5.5 mg/kg/day). Among these 18 patients, 16 manifested cognitive or behavioural improvement. In a subgroup of seven patients with frequent seizures, five became seizure-free and one had over 75% decrease in seizure frequency. At the one-year follow-up, 20 children were still on TPM and 10 exhibited persistent EEG improvement without any other AED being introduced, most of them with clinical benefits.

Conclusion

TPM can decrease EEG abnormalities in epileptic encephalopathy with CSWS, achieving clinical improvement in the majority of patients. However, relapse may occur in the long-term in nearly half of cases. Otherwise, TPM has proven particularly useful in reducing seizure frequency in refractory cases.  相似文献   

19.

Objective

Recent theories hypothesize that procedural learning may support the frequent overlap between neurodevelopmental disorders. The neural circuitry supporting procedural learning includes, among others, cortico-cerebellar and cortico-striatal loops. Alteration of these loops may account for the frequent comorbidity between Developmental Coordination Disorder (DCD) and Developmental Dyslexia (DD). The aim of our study was to investigate cerebral changes due to the learning and automatization of a sequence learning task in children with DD, or DCD, or both disorders.

Method

fMRI on 48 children (aged 8-12) with DD, DCD or DD + DCD was used to explore their brain activity during procedural tasks, performed either after two weeks of training or in the early stage of learning.

Results

Firstly, our results indicate that all children were able to perform the task with the same level of automaticity, but recruit different brain processes to achieve the same performance. Secondly, our fMRI results do not appear to confirm Nicolson and Fawcett's model. The neural correlates recruited for procedural learning by the DD and the comorbid groups are very close, while the DCD group presents distinct characteristics. This provide a promising direction on the neural mechanisms associated with procedural learning in neurodevelopmental disorders and for understanding comorbidity.  相似文献   

20.

Background

Rotavirus nonstructural protein 4 (NSP4) has been suggested as a pathogen of rotavirus-associated seizures. We investigated pre-existing serum antibodies against NSP4 and VP6 (the most highly immunogenic rotavirus protein) in patients with rotavirus gastroenteritis and its correlation with the occurrence of seizures.

Methods

With an enzyme-linked immunosorbent assay, IgG and IgA titers against NSP4 (genotype [A] and [B]) and VP6 were measured in acute-phase sera of 202 children aged 0.5–6.0 years with rotavirus gastroenteritis. The clinical characteristics and antibody levels were compared between patients with (seizure group) and without seizures (non-seizure group).

Results

The non-seizure and seizure groups comprised 173 and 29 patients, respectively. Age, sex, hospital stay, presence of fever, white blood cell counts, C-reactive protein, vaccine status, IgG/IgA titers for VP6, and IgA titers for both NSP4s did not differ between the groups. The seizure group showed a lower level of IgG against NSP4 [A] (184.5 vs. 163.0 U/mL; P = 0.03) and NSP4 [B] (269.0 vs. 196.0 U/mL; P = 0.02). Delayed sampling time from the onset of gastroenteritis symptoms (3 vs. 2 days; P = 0.02) and lower serum sodium level (133.4 vs. 136.3 mEq/L; P < 0.01) were observed in the seizure group. Even after adjusting these factors, anti-NSP4 [A] IgG (OR 2.56 per 100 U/mL increment; 95% CI, 1.20–5.26, P = 0.01) and anti-NSP4 [B] IgG (OR 1.51 per 100 U/mL-increment; 95% CI, 1.04–2.22, P = 0.03) were independently associated with protection against seizures.

Conclusions

Serum anti-NSP4 IgG might protect rotavirus-associated seizures.  相似文献   

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