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1.
A. Koy M. Weinsheimer K.A.M. Pauls A.A. Kühn P. Krause J. Huebl G.-H. Schneider G. Deuschl R. Erasmi D. Falk J.K. Krauss G. Lütjens A. Schnitzler L. Wojtecki J. Vesper R. Korinthenberg V.A. Coenen V. Visser-Vandewalle L. Timmermann 《European journal of paediatric neurology》2017,21(1):136-146
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.
René Kurz Julia Huemer Elvira Muchitsch Martha Feucht 《European journal of paediatric neurology》2018,22(5):803-806
Objective
To evaluate prospectively the effectiveness of cognitive behavioral therapy (CBT) in children with autism spectrum disorder (ASD).Methods
Drug-naïve children who met the DSM-V criteria for a diagnosis of ASD were recruited from a day care center, specialized in long-term treatment of children and adolescents with ASD. Symptom assessment was performed using the Aberrant Behavior Checklist (ABC) before (base-line) and after 12 months (follow-up) of CBT.Results
Nine boys with a mean age of 6 (±2.0) years were included. Compared to baseline, significant improvements of symptoms of irritability (p = 0.012), hyperactivity (p = 0.008) and lethargy (p = 0.008) were observed at follow-up.Conclusion
Results indicate that CBT is an effective therapy for children with ASD. Larger studies are needed to give more details about which symptoms respond best in these patients. 相似文献3.
Pablo E. Brockmann Felipe Damiani Eduardo Pincheira Francisca Daiber Sergio Ruiz Francisco Aboitiz Raffaele Ferri Oliviero Bruni 《European journal of paediatric neurology》2018,22(3):434-439
Study objectives
To assess spindle activity as possible markers for neurocognitive consequences in children with mild obstructive sleep apnea.Methods
Children aged 6–11 years diagnosed with mild OSA (i.e., an apnea hypopnea index <5.0) were recruited and compared with age and gender-matched healthy controls. Polysomnographic recordings were analyzed for sleep microstructure and spindle activity. All children completed also an intelligence test battery (i.e., the Wechsler intelligence test for children, 4th version).Results
Nineteen children with OSA (13 boys, mean age 7.1 ± 1.4 y), and 14 controls (7 boys, mean age 8.1 ± 1.9 y) were included. Mean IQ was 110 ± 12 for the complete sample, in children with OSA 111 ± 13, and in controls 108 ± 12 (p = 0.602). Controls showed a higher spindle index in N2 stage than children with OSA: 143.0 ± 42.5 vs 89.5 ± 56.9, respectively (p = 0.003). Spindle index in NREM was strongly and significantly correlated with Verbal Comprehension Index (VCI), Working Memory Index (WMI), Processing Speed Index (PSI), and total IQ in children with OSA.Conclusions
Children with mild OSA demonstrate a different pattern of sleep spindle activity that seems to be linked with neurocognitive performance, especially concerning memory. Sleep spindle activity seems to be involved with mechanisms related with neurocognitive consequences in children with OSA. 相似文献4.
M. Blankenburg J. Junker G. Hirschfeld E. Michel F. Aksu J. Wager B. Zernikow 《European journal of paediatric neurology》2018,22(3):470-481
Introduction
Many patients with cerebral palsy (CP) suffer chronic pain as one of the most limiting factors in their quality of life. In CP patients, pain mechanisms are not well understood, and pain therapy remains a challenge. Quantitative sensory testing (QST) might provide unique information about the functional status of the somatosensory system and therefore better guide pain treatment.Objectives
To understand better the underlying pain mechanisms in pediatric CP patients, we aimed to assess clinical and pain parameters, as well as QST profiles, which were matched to the patients' cerebral imaging pathology.Patients and methods
Thirty CP patients aged 6–20 years old (mean age 12 years) without intellectual impairment underwent standardized assessments of QST. Cerebral imaging was reassessed. QST results were compared to age- and sex-matched controls (multiple linear regression; Fisher's exact test; linear correlation analysis).Results
CP patients were less sensitive to all mechanical and thermal stimuli than healthy controls but more sensitive to all mechanical pain stimuli (each p < 0.001). Fifty percent of CP patients showed a combination of mechanical hypoesthesia, thermal hypoesthesia and mechanical hyperalgesia; 67% of CP patients had periventricular leukomalacia (PVL), which was correlated with mechanic (r = 0.661; p < 0.001) and thermal (r = 0.624; p = 0.001) hypoesthesia.Conclusion
The combination of mechanical hypoesthesia, thermal hypoesthesia and mechanical hyperalgesia in our CP patients implicates lemniscal and extralemniscal neuron dysfunction in the thalamus region, likely due to PVL. We suspect that extralemniscal tracts are involved in the original of pain in our CP patients, as in adults. 相似文献5.
Zvi Leibovitz Hanna Mandel Tzipora C. Falik-Zaccai Shani Ben Harouch David Savitzki Karina Krajden-Haratz Liat Gindes Mordechai Tamarkin Dorit Lev William B. Dobyns Tally Lerman-Sagie 《European journal of paediatric neurology》2018,22(3):525-531
Objectives
To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family.Methods
We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation.Results
The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).Conclusions
The novel association of cobblestone malformation with tectocerebellar dysraphia as part of WWS is characteristic of the homozygous c.743C > del frameshift mutation in the DAG1 gene. 相似文献6.
Chieh-Chung Lin Yen-Hsuan Ni Lung-Huang Lin Beng-Huat Lau Hsun-Chin Chao Hung-Chang Lee 《Pediatrics and neonatology》2018,59(5):507-514
Background
The Identification and Management of Feeding Difficulties (IMFeD?) tool was introduced in 2011 for management of children with feeding difficulties and has been used in various countries around the world. This study aimed to assess its acceptance and effectiveness in clinical practice in Taiwan.Methods
This was a prospective, observational, multicenter study where subjects were followed over 3 months. Outpatients identified as picky eaters, having poor appetite, poor weight gain, or weight loss were enrolled. The acceptance and effectiveness of IMFeD tool were evaluated by caregivers and pediatricians.Results
Among 423 children who completed the study (235 boys, 188 girls; 78.8% aged <5 years, 21.3% aged 6–10 years), the most common feeding difficulties were poor appetite in a fundamentally vigorous child (85.3%) and highly selective intake (70.2%). Mean percentiles for height and weight were 34.6 ± 25.3 and 20.3 ± 21.3 at enrolment, and increased by 5.4 and 5.9 (p < 0.0001) at the last visit, respectively. Most caregivers (86.5%) thought that the IMFeD tool helped them to understand and better identify picky eating behaviors. Pediatricians reported that the IMFeD tool was effective in 99.3% of patients for managing picky eaters in clinical practice.Conclusions
The IMFeD tool was effective in addressing differences in needs according to type of feeding difficulty by providing a systematic approach to manage feeding difficulty in Taiwanese children. It is applicable to the clinical practice and well-accepted by pediatricians and caregivers. 相似文献7.
A.I. Buizer P.E.M. van Schie E.A.M. Bolster W.J. van Ouwerkerk R.L. Strijers L.A. van de Pol A. Stadhouder J.G. Becher R.J. Vermeulen 《European journal of paediatric neurology》2017,21(2):350-357
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8.
M.A.S. Ahmed Ella Ramseyer-Bache Katherine Taylor 《European journal of paediatric neurology》2018,22(5):797-802
Background
Headache on wakening (HoW) or sleep interruption secondary to headache (SIH) has been commonly regarded as a potential sign of raised intracranial pressure and therefore a sign of significant underlying pathology that necessitates further investigation. Current recommendations for neuroimaging in patients with HoW/SIH are neither consistent nor clear across headache guidelines published both nationally and internationally.Aim
The main aim of this study was to ascertain the relevance of HoW and/or SIH as an indication for routine neuroimaging.Methods
This study focused on clinically well patients with normal neurological examinations who had experienced HoW or SIH. Demographic and neuroradiological data were collected prospectively and the headache diagnosis was based on the International Classification of Headache Disorders.Results
102/1065 patients reported either HoW and/or SIH. There were 57/102 (56%) females, 45/102 males (44%), and 33/102 (32%) of ethnic minority. Their age ranged between 5 and 17 years. 79/102 (77%) patients with HoW, 19/102 (19%) with SIH and 4/102 (4%) with both HoW and SIH. Headache diagnosis included migraine (n = 67; 66%), tension type headaches (n = 16; 16%), medication overuse headaches (n = 11; 11%), and sinusitis (n = 1; 1%). Neuroimaging was performed in 101/102 patients; imaging was normal for 97 scanned patients, and showed non-significant abnormality in the remaining 4 patients.Conclusion
HoW or SIH among clinically well and neurologically normal paediatric patients was most likely to be caused by primary headaches, particularly migraine or tension type headaches. This symptom alone among healthy and clinically well children is not an indication for routine neuroimaging and is unlikely to be caused by sinister aetiologies. 相似文献9.
Tamara Dostanic Breda Sustersic Darja Paro-Panjan 《European journal of paediatric neurology》2018,22(4):682-689
Background
The quality of general movements (GMs) has proven to have predictive value for the developmental outcome, but this has not yet been studied in twins.Aims
Our aim was to analyse the quality of GMs and neurological and developmental outcome in relation to the gestational age (GA), mode of conception and other perinatal risk factors in a group of twins.Study design
The documentation of twins referred for follow-up in the period from 1998 to 2016 was studied retrospectively. Data concerning the quality of GMs, perinatal risk factors and developmental outcome were analysed.Subjects
Eighty-nine twin pairs, GA from 24 to 38 weeks (median 35.0; IQR 3), birth weight 670 g–3820 g (median 2323; IQR 645) were included.Outcome measures
Results of neurological, psychological and speech/language development and school outcome were analysed.Results
GMs at term age and at three to four months postterm age did not differ with regard to the mode of conception. Preterm birth was significantly related to GMs at three to four months postterm age. At term age, GMs were significantly related to neurological outcome, while at three to four months postterm age, GMs were related to both the neurological and psychological outcome. Difficulties in speech/language development were diagnosed in almost half of the children, more frequently in boys and children with lower Apgar scores.Conclusion
The study highlights the value of GMs for predicting the developmental outcome in twins and indicates the importance of developmental, especially speech/language, follow-up in twins. 相似文献10.
Juliana T. Pacheco Timo Siepmann Jessica Barlinn Simon Winzer Ana Isabel Penzlin Volker Puetz Maja von der Hagen Kristian Barlinn 《European journal of paediatric neurology》2018,22(6):1035-1041
Background and purpose
Safety and efficacy of intravenous (IV) thrombolysis and endovascular therapy in children with acute ischemic stroke (AIS) are unknown to date. We aimed to review and synthesize currently available evidence on these acute recanalization therapies in pediatric stroke patients.Methods
We performed a systematic review and meta-analysis of all available data on safety and efficacy of acute treatment including thrombolysis and endovascular therapy in pediatric AIS patients aged <18 years. We searched the electronic databases Medline and Cochrane Library for eligible studies published from the earliest date available until August 31, 2016. Safety outcomes included intracerebral hemorrhage (ICH) post-treatment and in-hospital mortality. Efficacy outcomes included functional outcome 3–6 months after index stroke.Results
We identified 222 records, of which 3 studies with a total of 16,987 pediatric stroke patients met our eligibility criteria of whom 181 received IV thrombolysis. No data exists from randomized trials and no data is available on endovascular thrombectomy. Risk of any ICH was increased in children receiving thrombolysis (risk ratio = 3.48, 95%CI: 1.66–7.29; p = 0.001) compared with controls, with no evidence of heterogeneity (I2 = 0%). None of the included studies reported complete data on symptomatic ICH. In-hospital mortality was similar between pediatric stroke patients treated with thrombolysis and controls (risk ratio = 1.44, 95%CI: 0.39–5.40; p = 0.586), with evidence of heterogeneity (I2 = 62%). Efficacy of revascularization therapies could not be analyzed due to lack of outcome data.Conclusions
Our analyses demonstrate a substantial lack of data on efficacy and safety of acute recanalization therapies in children with AIS.PROSPERO Registration Information
URL: http://www.crd.york.ac.uk/PROSPERO. Unique identifier: CRD42016047140. 相似文献11.
Nicola Tambasco Federico Paolini Paoletti Giulia Prato Maria Margherita Mancardi Paolo Prontera Lucio Giordano Salvatore Grosso Antonino Romeo Francesca Pinto Salvatore Savasta Cinzia Peruzzi Michele Romoli Pasquale Striano Alberto Verrotti Vincenzo Belcastro 《European journal of paediatric neurology》2018,22(6):1081-1086
Introduction
Shapiro syndrome (SS) is characterized by spontaneous recurrent episodes of hypothermia, hyperhidrosis and corpus callosum (CC) agenesis. Less than 60 cases have been reported to date and the pathogenic mechanism as well as the prognosis of this syndrome are still debated. We describe the clinical features and long-term follow-up of a pediatric cohort of SS patients.Methods
We collected 13 (10 novel) pediatric cases of SS and report their long-term follow-up and neurological outcome.Results
All patients experienced recurring hypothermia, with body temperature below 35 °C during the episodes, often accompanied by hyperidrosis. CC agenesis was an inconstant structural feature in the present series (2/13 patients). Seven patients received antiepileptic drugs (AEDs) or other drug therapy for a mean period of 12 months. At long-term follow-up (mean = 61 months, range: 60–96), all individuals were free from episodes of paroxysmal hypothermia independently from previous AED use or other drug therapy.Conclusion
Paroxysmal hypothermia, the core symptom of SS, behaved as a age-dependent feature in our cohort, supporting a good long-term prognosis for SS. A prompt diagnosis of SS is crucial to avoid unnecessary diagnostic investigations. 相似文献12.
Kathleen F. Gaffney Albert V. Brito Deborah A. Kermer Panagiota Kitsantas 《Journal of pediatric health care》2018,32(1):76-82
Introduction
This study examined the association between early weight gain (0–6 months) and risk for overweight, as defined by the Institute of Medicine, at 1 year among infants of low-income Hispanic immigrant mothers.Method
Weight-for-age data were extracted from electronic medical records of 335 infants with gestations of 37 weeks or longer and birthweights appropriate for gestational age and without medical problems likely to interfere with growth or feeding. Logistic regression models were constructed to examine the impact of early weight changes on weight status at 1 year.Results
By 12 months, 36.7% of infants had crossed weight-for-age of 84.1% or greater on World Health Organization growth charts. In adjusted models, infants had 20.8 (95% confidence interval = [19.8, 44.0]) times the odds of reaching this benchmark at 1 year for each z score increase at 0 to 6 months.Discussion
The study highlights a time-sensitive opportunity for interventions to reduce risk for overweight for this vulnerable population. 相似文献13.
Michael R. Pranzatelli Tyler J. Allison Elizabeth D. Tate 《European journal of paediatric neurology》2018,22(4):586-594
Introduction
Flow cytometric cerebrospinal fluid (CSF) lymphocyte subset analysis has improved the diagnosis of neuroinflammation and identified multiple markers of inflammation in opsoclonus-myoclonus syndrome (OMS). The aim of this exploratory, retrospective study was to analyze the effect of immunotherapy on these markers to determine which agents are disease modifying.Methods
Cross-sectional immunological observations were made in an IRB-approved case–control study, and patients were treated empirically. Ten different CSF lymphocyte subpopulations from 18 children with persistent OMS had been measured by flow cytometry before and after clinical treatment with cyclophosphamide/ACTH/IVIG combination (n = 7) or ACTH/IVIG alone (n = 11). Clinical severity of OMS was scored from videotapes by a blinded observer using the OMS Evaluation Scale.Results
Only cyclophosphamide combination therapy (mean dose 26 ± 3 mg/kg or 922 ± 176 mg/m2 x 6 cycles) significantly decreased the percentage of CSF B cells. The mean reduction was 65%, with CSF B cell frequency normalized at 7–8 months in 70%. Other abnormalities of the CSF immunophenotype, such as the low CD4/CD8 T cell ratio, persisted, and there were no therapeutic changes in T cell activation/maturation markers. Effects on relative and absolute size of PBMC subsets were similar. Clinical improvement was 70% and 55% in respective treatment groups. The relapse rates of the two groups did not significantly differ.Discussion
The main effect of cyclophosphamide combination therapy on neuroinflammation in OMS was moderate reduction in CSF B cell expansion. Though exploratory, it may provide a steroid sparer option in partially-responsive OMS. 相似文献14.
B.J. van der Knoop K.J. Oostrom I.A. Zonnenberg M.M. van Weissenbruch R.J. Vermeulen J.I.P. de Vries 《European journal of paediatric neurology》2018,22(5):845-853
Background
Maternal trauma complicates pregnancy in approximately 7%. Long-term development of children exposed to maternal trauma is unknown.Aim
To determine neurobehavioural outcome of children (6–18 years) born after maternal trauma in pregnancy compared to a matched control group.Study design
Case-control study performed at a tertiary medical centre.Subjects
All consecutive children born after maternal hospitalization for trauma during pregnancy between 1995 and 2005. Controls were children born at the same hospital and period after an uneventful pregnancy.Outcome measures
Trauma type and severity (Injury Severity Score, ≥9: severe); information from medical files at admission (cases). All mothers filled out two questionnaires about the infant; 1. concerning health, motor development and educational level, 2. concerning behavioural development through the validated Dutch version of the Child Behavior Checklist (CBCL).Results
Questionnaires were returned by 34 cases and 28 controls. The traumas concerned mainly motor vehicle accidents and falls, and 3/34 had severe injuries. No differences in health, motor development, educational level and CBCL was found between the cases and controls, except for more hospitalization in the cases (p = 0.009).Conclusion
Long-term follow-up of a limited population of children 6–18 years after exposure of mainly non-severe trauma before birth is similar to a control population except for unexplained more hospitalization in the cases. 相似文献15.
A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy
Rianne J.M. Goselink Caroline R. van Kernebeek Karlien Mul Richard J.L.F. Lemmers Silvère M. van der Maarel Oebele F. Brouwer Nicol Voermans George W. Padberg Corrie E. Erasmus Baziel G.M. van Engelen 《European journal of paediatric neurology》2018,22(5):782-785
Aim
To assess the long-term natural course of early-onset facioscapulohumeral dystrophy (FSHD), which is important for patient management and trial-readiness, and is currently lacking.Methods
We had the unique opportunity to evaluate 10 patients with early-onset FSHD after 22 years follow-up. Patients underwent a semi-structured interview, physical examination and additional genotyping.Results
Nine initial study participants (median age 37 years) were included, one patient died shortly after first publication. At first examination, one patient was wheelchair dependent, one patient walked aided, and eight patients walked unaided. After 22 years, four patients were wheelchair dependent, three walked aided, and two walked unaided. Systemic features, including hearing loss (56%), intellectual disability (44%), and a decreased respiratory function (56%), were frequent. Patients participated socially and economically with most patients living in a regular house (n = 6) and/or having a paid job (n = 4).Discussion
Patients with early-onset FSHD generally had a severe phenotype compared to classical onset FSHD. However, after 22 years of follow up they showed a wide variation in severity and, despite these physical limitations, participated socially and economically. These observations are important for patient management and should be taken into account in clinical trials. 相似文献16.
Angelina R.A. Pikstra Zwany Metting Johanna M. Fock Joukje van der Naalt 《European journal of paediatric neurology》2017,21(2):344-349
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.
Astrid Pechmann Thorsten Langer Sabine Wider Janbernd Kirschner 《European journal of paediatric neurology》2018,22(1):122-127
Background
Spinal muscular atrophy (SMA) is a neuromuscular disorder mainly characterized by proximal muscle weakness. There have been enormous advances in therapeutic development with the possibility to influence the clinical course of the disease. Nusinersen is the first approved drug to treat SMA. It is administered intrathecally and acts as splicing modifier of the SMN2 gene.Methods
Lumbar punctures were performed using a standardized protocol. To evaluate safety and feasibility of the intrathecal treatment, vital signs and the need for sedation, analgesia or mechanical ventilation during the procedure were monitored. Furthermore, the number of puncture attempts, the injection site and the macroscopic appearance of cerebrospinal fluid were documented.Results
Treatment with Nusinersen was initiated in 20 children aged from 2 to 50 months. Administration of a local anesthetic cream on the puncture site and a peripheral analgesic led to an adequate pain management. We observed a beneficial distraction through the possibility to watch a movie or listen to music during the procedure. In some cases, an additional sedation was necessary. In patients accustomed to non-invasive ventilation, this was used during lumbar punctures. On average, 1.5 ± 1.0 puncture attempts were performed between L 4/5 and L 2/3. If required, the position of the medullary cone was identified by ultrasound to guarantee a safe puncture above L 3/4.Conclusions
Lumbar punctures for intrathecal administration of Nusinersen could be performed without any relevant complications. With the described approach lumbar punctures were tolerated well in all investigated age groups. 相似文献18.
Barbora Benova Borivoj Petrak Martin Kyncl Petr Jezdik Alice Maulisova Alena Jahodova Vladimir Komarek Pavel Krsek 《European journal of paediatric neurology》2018,22(4):632-641
Aim
We aimed to identify early predictors of intractable epilepsy, intellectual disability (ID) and autism spectrum disorders (ASD) in the cohort of TSC patients initially diagnosed with cardiac rhabdomyomas (CR).Method
Over the period of twelve years we prospectively obtained clinical, neuropsychological, electrophysiological and neuroimaging data in a group of 22 TSC patients (9 females, 13 males) with the pre/perinatal diagnosis of CR, included to the study at the time of diagnosis. Afterwards, we statistically determined variables associated with ID, ASD and intractable epilepsy.Results
Development of ID was predicted by severe epilepsy (a higher number of anti-epileptic drugs used), a higher number of dysplastic lesions on MRI, and abnormal background activity on EEG (p < 0.05). Predictors of ASD included early developmental delay, abnormal background activity on EEG at the end of follow-up and a higher number of areas with dysplastic features on MRI (p < 0.05). Intractable epilepsy was associated with a higher number of areas with dysplastic features on MRI, ID and with TSC2 genotype.Conclusion
Adverse mental and clinical outcome was associated with intractable epilepsy and the severe anatomical brain involvement; therefore, our centre developed a tailored protocol for early identification of TSC patients at a higher risk of developing intractable epilepsy with its deleterious effect on cognitive outcome. 相似文献19.
Aslihan Kara Metin Kaya Gurgoze Mustafa Aydin Erdal Taskin Unal Bakal Aysen Orman 《Pediatrics and neonatology》2018,59(4):375-379
Background
The aim of present study was to evaluate the indications, complications and outcomes of acute peritoneal dialysis (APD) in neonates at a referral university hospital during the previous 8 years.Methods
This retrospective analysis included a total of 52 newborn infants who underwent APD in a neonatal intensive care unit between January 2008 and March 2016. Demographic, clinical, laboratory and microbiological data were extracted from patients' medical files.Results
The primary causes for requiring APD were acute tubular necrosis (n = 36, 69.2%), inborn error of metabolism (n = 10, 19.2%), congenital nephrotic syndrome (n = 2, 3.9%), bilateral polycystic kidney (n = 2, 3.9%), renal agenesis (n = 1, 1.9%), and obstructive uropathy (n = 1, 1.9%). The mean duration of APD was 8.7 ± 15.87 days (range: 1–90 days). Procedural complications were mainly hyperglycemia (n = 16, 47.1%), dialysate leakage (n = 7, 20.6%), peritonitis (n = 3, 8.8%), catheter obstruction (n = 3, 8.8%), bleeding at the time of catheter insertion (n = 2, 5.9%), catheter exit site infection (n = 2, 5.9%), and bowel perforation (n = 1 2.9%). There were 40 deaths (76.9%), mainly due to underlying causes. Ten of the 12 survivors showed full renal recovery, but mild chronic renal failure (n = 1) and proteinuria with hypertension were seen (n = 1) in each of remaining patients.Conclusion
Peritoneal dialysis is an effective route of renal replacement therapy in the neonatal period for management of metabolic disturbances as well as renal failure. Although major complications of the procedure are uncommon, these patients still have a high mortality rate due to serious nature of the underlying primary causes. 相似文献20.
Jacob Brodsky Karampreet Kaur Talia Shoshany Sophie Lipson Guangwei Zhou 《European journal of paediatric neurology》2018,22(4):667-673