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1.
Irene Toldo Claudia Maria Bonardi Elisa Bettella Roberta Polli Giacomo Talenti Alberto Burlina Stefano Sartori Alessandra Murgia 《European journal of paediatric neurology》2018,22(6):1042-1053
Background
The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay, to multisystem neonatal disorder.Aim
The present study aims at describing the phenotype associated with a novel homozygous ALDH7A1 mutation and the spectrum of brain malformations associated with pyridoxine-dependent epilepsy.Methods
We conducted a literature review on the Internet database Pubmed (up to November 2017) searching for ALDH7A1 mutations associated with brain malformations and brain MRI findings.Results
We present the case of two siblings, children of related parents. The proband presented neonatal focal seizures not responding to conventional antiepileptic drugs. Electroencephalography showed a suppression burst pattern and several multifocal ictal patterns, responsive to pyridoxine. Brain MRI was normal. Molecular analysis by targeted next-generation sequencing panel for epileptic encephalopathy disclosed a homozygous missense mutation of ALDH7A1. The same mutation was then found in a stored sample of DNA from peripheral blood of an older sister dead 3 years earlier. This girl presented a complex brain malformation diagnosed with a foetal MRI and had neonatal refractory seizures with suppression burst pattern. She died at 6 months of age.Literature review
The brain abnormalities most frequently reported in pyridoxine-dependent epilepsy include: agenesia/hypoplasia of the corpus callosum, not specific white matter abnormalities, large cisterna magna, ventriculomegaly, haemorrhages, cerebellum hypoplasia/dysplasia, and, more rarely, dysplasia of the brainstem and hydrocephalus.Discussion and conclusions
ALDH7A1 mutations have been associated to different brain abnormalities, documented by MRI only in few cases. The study cases expand the clinical spectrum of ALDH7A1 associated conditions, suggesting to look for ALDH7A1 mutations not only in classical phenotypes but also in patients with brain malformations, mainly if there is a response to a pyridoxine trial. 相似文献2.
Andreea Nissenkorn Tomer Erlich Dorit E. Zilberman Ifat Sarouk Alexander Krauthammer Noam D. Kitrey Gali Heimer Bruria BenZeev Yoram Mor 《European journal of paediatric neurology》2018,22(6):1118-1123
Background
Ataxia telangiectasia (AT) is a neurodegenerative cerebellar disorder, caused by mutations in the ATM gene, involved in DNA repair. Radiosensitivity, progressive ataxia, immune deficiency and malignancies, are well known symptoms, but urological manifestations are scarcely described.Objective
To characterize urologic manifestations in a large cohort of AT patients.Methods
Retrospective cross-sectional chart study comprising 52 AT patients followed at a National AT Center.Results
25% of the cohort (13 patients/8 males) had urologic symptoms, which presented at 11 ± 4.3 years. The most common symptom was secondary enuresis affecting 15% of the patients (8 children/4 males). Incontinence appeared at 8 ± 6.2 years of age, and resolved spontaneously within 15 ± 8.3 months in 6 patients. It preceded loss of ambulatory capacity by 1–2 years in 7 patients. Lumbosacral MRI were normal (4 children) and urine cultures (all) were negative. Urodynamic evaluation that was performed in only one patient revealed overactive bladder. Additional manifestations were macroscopic hematuria due to bladder telangiectasia in a 12-year-old, and renal cell carcinoma in a 22-year-old. Other manifestations unrelated to AT were neprolithiasis, vesico-ureteral reflux and scrotal pain, each in 1 patient.Discussion
Transient secondary enuresis is a frequent finding in AT patients, heralding loss of ambulatory capacity, tough it's pathophysiological mechanism is largely no understood. 相似文献3.
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4.
Anne T. Magpuri Jane K. Dixon Ruth McCorkle Angela A. Crowley 《Journal of pediatric health care》2018,32(1):10-20
Introduction
The purposes of this project were (a) to examine criteria derived from evidence-based pediatric acute asthma exacerbation assessment tools, asthma scores, and the acute asthma prediction rule validated and used in the emergency department and (b) to adapt these criteria for pediatric primary care.Method
The three stages of the project included (a) identification of criteria in a literature review, (b) validation of the criteria by an expert panel, and (c) adaptation of the criteria in the design of an assessment tool.Results
The criteria were validated and adapted in the design of The Pediatric Acute Asthma Exacerbation Severity Assessment and Disposition Decision-Making Tool for Pediatric Primary Care.Discussion
The adaptation of criteria derived from the evidence and validated by an expert panel will inform and guide clinicians in assessing severity and support decision making in determining disposition of pediatric patients presenting with an acute asthma exacerbation in primary care. 相似文献5.
Barbara K. Giambra Stephen M. Haas Maria T. Britto Ellen A. Lipstein 《Journal of pediatric health care》2018,32(1):21-28
Introduction
The purpose of this study was to explore the communication behaviors demonstrated by parents of children with chronic conditions and provider team members when communicating about the child's care in outpatient clinics using concepts from the Theory of Shared Communication (TSC).Methods
This was a secondary data analysis of 30 previously recorded pediatric clinic visits. Communication among parents and provider team members was analyzed using a researcher-developed coding scheme based on the TSC.Results
Provider team members dominated communication during clinic visits, showing more frequent use of asking, explaining, advocating, and negotiating behaviors than parents. Parents were engaged in communication with frequent asking, explaining, and advocating behaviors.Discussion
Parents of children with chronic conditions and multidisciplinary providers demonstrated the communication behaviors of the TSC in an outpatient clinic setting. Provider dominance of communication in the clinic setting may disempower parents and impair relationships. 相似文献6.
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7.
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.
Blood and Hair Aluminum Levels,Vaccine History,and Early Infant Development: A Cross-Sectional Study
Mateusz P. Karwowski Catherine Stamoulis Larissa M. Wenren G. Mayowa Faboyede Nicolle Quinn Kathleen M. Gura David C. Bellinger Alan D. Woolf 《Academic pediatrics》2018,18(2):161-165
Objective
To evaluate relationships between whole blood (B-Al) and hair aluminum (H-Al) levels in healthy infants and their immunization history and development.Methods
We conducted a cross-sectional study of 9- to 13-month-old children recruited from an urban primary care center, excluding those with a history of renal disease or receipt of either aluminum-containing pharmaceuticals or parenteral nutrition. Aluminum levels were measured using inductively coupled plasma-mass spectrometry. Correlation with Bayley Scales of Infant and Toddler Development, Third Edition (BSID) and vaccine-related aluminum load was assessed via linear regression models.Results
The median age of 85 participants was 287 days. B-Al (median, 15.4 ng/mL; range, 0.9–952 ng/mL) and H-Al (median 42,542 ng/g; range, 2758–211,690 ng/g) were weakly correlated (Spearman ρ = 0.26; P = .03). There was no significant correlation between B-Al or H-Al and estimated aluminum load from vaccines. B-Al was not correlated with BSID composite or subscale scores. Although H-Al was not correlated with BSID scores in models including all data (n = 85), it was inversely correlated with motor composite (P < .02; Wald = 5.88) and the gross motor subscale (P = .04; Wald = 4.38) in models that excluded an extreme outlying H-Al value.Conclusions
Infant B-Al and H-Al varied considerably but did not correlate with their immunization history. Likewise, there was no correlation between B-Al and infant development or between H-Al and language or cognitive development. An inverse correlation between H-Al and BSID motor scores deserves further investigation. 相似文献10.
Yannay Khaikin Sarah Sidky Jose Abdenur Arnaud Anastasi Diana Ballhausen Sabrina Buoni Alicia Chan David Cheillan Nathalie Dorison Alice Goldenberg Jennifer Goldstein Floris C. Hofstede Marie-Line Jacquemont Dwight D. Koeberl Laurence Lion-Francois Allan Meldgaard Lund Karine Mention Helen Mundy Saadet Mercimek-Andrews 《European journal of paediatric neurology》2018,22(3):369-379
Purpose
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment consists of creatine, ornithine and arginine-restricted diet. We initiated an international treatment registry using Research Electronic Data Capture (REDCap) software to evaluate treatment outcome.Methods
Physicians completed an online REDCap questionnaire. Clinical severity score applied pre-treatment and on treatment.Results
There were 22 patients. All had developmental delay, 18 had seizures and 8 had movement disorder. Based on the clinical severity score, 5 patients had a severe, 14 patients had a moderate and 3 patients had a mild phenotype. All patients had pathogenic variants in GAMT. The phenotype ranged from mild to moderate in patients with the most common c.327G > A variant. The phenotype ranged from mild to severe in patients with truncating variants. All patients were on creatine, 18 patients were on ornithine and 15 patients were on arginine- or protein-restricted diet. Clinical severity score improved in 13 patients on treatment. Developmental delay improved in five patients. One patient achieved normal development. Eleven patients became seizure free. Movement disorder resolved in four patients.Conclusion
In our small patient cohort, there seems to be no phenotype–genotype correlation. Creatine and ornithine and/or arginine- or protein-restricted diet were the most useful treatment to improve phenotype. 相似文献11.
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12.
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13.
T.H. Popperud M.I. Boldingh C. Brunborg K.W. Faiz A.T. Heldal A.H. Maniaol K.I. Müller M. Rasmussen K. Øymar E. Kerty 《European journal of paediatric neurology》2017,21(2):312-317
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14.
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15.
M.J. Kuiper R. Brandsma L. Vrijenhoek M.A.J. Tijssen H. Burger B. Dan D.A. Sival 《European journal of paediatric neurology》2018,22(4):595-601
Aim
To compare physiological age-relatedness between dyskinesia (dystonia/choreoathetosis), dystonia and ataxia rating scale scores in healthy children.Method
Three movement disorders specialists quantified dyskinetic-like features in healthy children (n = 52; 4–16 years) using the Dyskinesia Impairment Scale (DIS = DIS-choreoathetosis (DIS-C) + DIS-dystonia (DIS-D)). We compared the age-related regression coefficients of the DIS with data processed from previous studies on dystonia and ataxia rating scales (Burke-Fahn-Marsden Movement and Disability Scales (BFMMS and BFMDS) and Scale for Assessment and Rating of Ataxia (SARA), International Cooperative Ataxia Rating Scale (ICARS) and Brief Ataxia Rating Scale (BARS)).Results
Dyskinetic scores were obtained in 79% (DIS); 65% (DIS-D) and 17% (DIS-C) versus dystonic and ataxic scores in 98% (BFMMS) and 89% (SARA/ICARS/BARS) of the children. Age-related DIS and DIS-D scores (B = ?0.90 and 0.77; p < 0.001) were correlated with age-related BFMMS scores (B = ?0.49; p < 0.001; r = 0.87; p < 0.001), whereas DIS-C scores were age-independent. Ataxic scores revealed stronger age-related regression coefficients than dyskinetic and dystonic scores (4–8 years; p < 0.05).Interpretation
In healthy children, comparison between physiological dyskinesia, dystonia and ataxia rating scale scores revealed: 1. inverse age-relatedness for dystonic and ataxic scores, but not for choreoathetotic scores, 2. interrelated dystonic DIS-D and BFMMS scores, 3. the strongest age-related expression by ataxic scores. In healthy children, these physiological movement disorder-like features are interpreted as an expression of the developing underlying motor centres. 相似文献16.
Candice Fabre Barthélémy Tosello Estelle Pipon Catherine Gire Kathia Chaumoitre 《Pediatrics and neonatology》2018,59(6):553-560
Background
Lenticulostriate vasculopathy (LSV) is a hyperechogenicity of the lenticulostriate branches of the basal ganglia and/or thalamus' middle cerebral arteries and is frequently seen in neonatology. Our study primarily describes the perinatal data and long-term follow-up of newborns with lenticulostriate vessel hyperechoic degeneration. Secondly, it describes the cerebral imaging data as a function of perinatal factors and neurodevelopmental follow-up of these newborns.Methods
This retrospective study assesses the outcome of newborns with LSV hyperechogenicity on cerebral ultrasound (two grades). These children were born between January 2008 and September 2015 and were treated in a large level III neonatal intensive care unit. Thirty-four term-equivalent age children underwent MRIs using a standardized protocol of T2, T1 3D, diffusion and spectro-MRI sequences. The MRIs retrospectively measured the white matter and basal ganglia apparent diffusion coefficients (ADC).Results
Fifty-eight neonates, ranging from 25 to 42 weeks gestational age (GA), were diagnosed with LSV. There was a significantly increased high-grade LSV when accompanied by fetal heart rate abnormalities (p = 0.03) and the neonate's need for respiratory support at birth (P = 0.002). The mean ADC score was substantially superior in the high-grade versus the low-grade LSVs (p = 0.023). There were no noteworthy outcome differences between a high and low grade LSV. The mean ADC for basal ganglions was appreciably higher in children with a severe prognoses (death or developmental disorder) as compared to children with no abnormalities (p < 0.01).Conclusion
From the results of our study, it appears that a low-grade LSV could be considered as a normal variant. There are no unifying diagnostic criteria for LSV on cerebral ultrasound. With a cerebral MRI, the use of ADC values of basal ganglia may well underscore the importance of such data in predicting long-term outcomes. 相似文献17.
Real-World Usage of Educational Media Does Not Promote Parent–Child Cognitive Stimulation Activities
Jason H. Choi Alan L. Mendelsohn Adriana Weisleder Carolyn Brockmeyer Cates Caitlin Canfield Anne Seery Benard P. Dreyer Suzy Tomopoulos 《Academic pediatrics》2018,18(2):172-178
Objective
To determine whether educational media as actually used by low-income families promote parent–child cognitive stimulation activities.Methods
We performed secondary analysis of the control group of a longitudinal cohort of mother–infant dyads enrolled postpartum in an urban public hospital. Educational media exposure (via a 24-hour recall diary) and parent–child activities that may promote cognitive stimulation in the home (using StimQ) were assessed at 6, 14, 24, and 36 months.Results
Data from 149 mother–child dyads, 93.3% Latino, were analyzed. Mean (standard deviation) educational media exposure at 6, 14, 24, and 36 months was, respectively, 25 (40), 42 (58), 39 (49), and 39 (50) minutes per day. In multilevel model analyses, prior educational media exposure had small positive relationship with subsequent total StimQ scores (β = 0.11, P = .03) but was nonsignificant (β = 0.08, P = .09) after adjusting for confounders (child: age, gender, birth order, noneducational media exposure, language; mother: age, ethnicity, marital status, country of origin, language, depressive symptoms). Educational media did predict small increases in verbal interactions and toy provision (adjusted models, respectively: β = 0.13, P = .02; β = 0.11; P = .03). In contrast, more consistent relationships were seen for models of the relationship between prior StimQ (total, verbal interactions and teaching; adjusted models, respectively: β = 0.20, P = .002; β = 0.15, P = .006; β = 0.20, P = .001) and predicted subsequent educational media.Conclusions
Educational media as used by this sample of low-income families does not promote cognitive stimulation activities important for early child development or activities such as reading and teaching. 相似文献18.
Ayşe Kahraman Zümrüt Başbakkal Mehmet Yalaz Eser Y. Sözmen 《Pediatrics and neonatology》2018,59(4):352-359
Background
Nesting positions are commonly used in procedural analgesic administration in premature neonates. The effectiveness of nesting positions is questioned. The aim of the this study was to assess the pain, stress, comfort and salivary cortisol and melatonin values in nesting positions during the heel lance procedure in premature infants at the NICU.Methods
Experimental research; repeated measurement design. The sample comprised 33 premature neonates with gestational age of 31–35 weeks who had been hospitalized in the NICU. Nesting positions were given using linen or towels. The procedure of heel lance was recorded on camera. The camera recordings were evaluated according to the NIPS and the COMFORTneo scale. Saliva samples were obtained five minutes prior to and 30 min after the heel lance procedure. Salivary Cortisol and Melatonin were measured using the Salimetrics Cortisol Elisa Kit and the Salimetrics Melatonin Elisa Kit.Results
The crying time, the mean NIPS score, the COMFORTneo score, the COMFORTneo NRS-pain scores and the COMFORTneo NRS-distress scores for premature neonates who were in the prone position during the procedure were significantly lower than the scores in the supine position (p < 0.000). Furthermore, the level of salivary cortisol five minutes prior to and 30 min after the heel lance procedure had significantly decreased in the prone position; however, there were insignificant differences in the mean levels of salivary melatonin between the positions.Conclusions
Nesting in the prone position has a pain reducing effect, enhancing comfort and reducing stress in premature infants. 相似文献19.
Jacob Brodsky Karampreet Kaur Talia Shoshany Sophie Lipson Guangwei Zhou 《European journal of paediatric neurology》2018,22(4):667-673
Introduction
Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM).Methods
We retrospectively reviewed the medical records of patients seen at the Balance and Vestibular Program at Boston Children's Hospital between January 2012 and December 2016 who were diagnosed with BPTI, BPVC, and/or VM.Results
Fourteen patients were diagnosed with BPTI, 39 with BPVC, and 100 with VM. Abnormal rotary chair testing was associated with progression from BPTI to BPVC (n = 8, p = 0.045). Eight (57.1%) patients with BPTI and 11 (28.2%) with BPVC had motor delay. Eleven (78.6%) patients with BPTI and 21 (53.8%) with BPVC had balance impairment. Six BPTI patients developed BPVC (42.9%), six BPVC patients developed VM (15.4%), and two patients progressed through all three disorders (2%). One BPTI patient progressed directly to VM.Discussion
Most patients with BPTI will experience complete resolution in early childhood, but some will progress to BPVC, and similarly many patients with BPVC will progress to VM. Parents of children with these disorders should be made aware of this phenomenon, which we refer to as “the vestibular march.” Children with BPTI and BPVC should also be screened for hearing loss, otitis media, and motor delay. 相似文献20.
Kathleen F. Gaffney Albert V. Brito Deborah A. Kermer Panagiota Kitsantas 《Journal of pediatric health care》2018,32(1):76-82