Journal of pediatric neurology最新文献

“It Affects Everything about Me”: Sleep Problems among Children with Cerebral Palsy and Their Caregivers in Ile-Ife—A Mixed-Methods Study “它影响着我的一切”:在ile - life -一项混合方法研究中，脑瘫儿童及其照顾者的睡眠问题

Journal of pediatric neurology Pub Date : 2023-09-29 DOI: 10.1055/s-0043-1772211

Oluwatosin E. Olorunmoteni, Joan I. Akande, Toluwani E. Babalola, Abiodun Kareem, Temiloluwa Taiwo Oyetoke, Champion Seun-Fadipe

{"title":"“It Affects Everything about Me”: Sleep Problems among Children with Cerebral Palsy and Their Caregivers in Ile-Ife—A Mixed-Methods Study","authors":"Oluwatosin E. Olorunmoteni, Joan I. Akande, Toluwani E. Babalola, Abiodun Kareem, Temiloluwa Taiwo Oyetoke, Champion Seun-Fadipe","doi":"10.1055/s-0043-1772211","DOIUrl":"https://doi.org/10.1055/s-0043-1772211","url":null,"abstract":"Abstract Background Sleep problems are common in children with cerebral palsy (CWCP). However, the effect of sleep problems in CWCP on caregivers has not been well studied. We aimed to describe the sleep problems in CWCP and their caregivers, and explore the effect of the children's sleep on the caregivers' sleep. Methods This cross-sectional, mixed-methods research was conducted at a pediatric neurology clinic in Ile-Ife, Nigeria. The Sleep Disturbance Scale for Children (SDSC) and Pittsburgh Sleep Quality Index (PSQI) were used for assessing sleep problems of the children and their caregivers, respectively. We held three focused group discussions (FGDs) involving 18 caregivers using a pretested FGD guide. We analyzed the quantitative data using Stata-15 software, while qualitative data were transcribed and managed using ATLAS.ti Software. Results We studied 71 CWCP–caregiver dyads and 69 age- and sex-matched controls. There was a male preponderance for CWCP (M:F = 1.09:1) and female preponderance for caregivers (89.5%). Sleep disturbances (SDSC > 40) occurred in 34% of CP children and poor sleep quality was seen in 39% of caregivers. When compared with age- and sex-matched typically developing peers, there was a statistically significant higher sleep disturbance in CWCP (p = 0.009). Sleep difficulties in the CWCP comprise sleep–wake transition disorders (45.0%), difficulty initiating sleep (43.3%), and sleep breathing disorders (37.5%). Caregivers experienced short sleep duration. One mother said: “It affects my sleep, health, and work. It affects everything about me.” Conclusion Sleep problems in CWCP affect the well-being of their caregivers. Interventions targeted at both the children and their caregivers are needed.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135192797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Rare Occurrence of Demyelinating Lesions of Bilateral Trigeminal Nerves: An Atypical Presentation of Pediatric Multiple Sclerosis 罕见的双侧三叉神经脱髓鞘病变:小儿多发性硬化症的非典型表现

Journal of pediatric neurology Pub Date : 2023-09-19 DOI: 10.1055/s-0043-1772574

Elia Manfrini, Ludovica Falcioni, Vanna Cavassa, Eleonora Cocco, Stefano Sotgiu, Luca Saba

引用次数: 0

Progressive Encephalomyelitis with Rigidity and Myoclonus with an Aggressive Presentation Mimicking Septic Shock: A Pediatric Case Report and Literature Review 进行性脑脊髓炎伴强直和肌阵挛，表现为感染性休克:1例儿科病例报告及文献回顾

Journal of pediatric neurology Pub Date : 2023-06-05 DOI: 10.1055/s-0043-1769478

Samuel C.S. Ho, K. Y. Leung, Grace S.F. Ng, W. L. Yiu, Eric K.C. Yau, N. C. Fong

{"title":"Progressive Encephalomyelitis with Rigidity and Myoclonus with an Aggressive Presentation Mimicking Septic Shock: A Pediatric Case Report and Literature Review","authors":"Samuel C.S. Ho, K. Y. Leung, Grace S.F. Ng, W. L. Yiu, Eric K.C. Yau, N. C. Fong","doi":"10.1055/s-0043-1769478","DOIUrl":"https://doi.org/10.1055/s-0043-1769478","url":null,"abstract":"Abstract Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a relapsing–remitting neurological disorder that falls within the stiff person syndrome–spectrum disorders. We report a 16-year-old girl with PERM associated with an anti-glutamic acid decarboxylase (GAD) antibody. She had an aggressive initial presentation mimicking fulminant septic shock, followed by truncal and lower limb rigidity, stimulus-sensitive spasm, cognitive impairment, brainstem signs (hyperekplexia, nystagmus), and dysautonomia (urinary retention, constipation, facial flushing, blood pressure fluctuation). Cerebrospinal fluid, electroencephalography, and magnetic resonance imaging of the brain and spine showed features suggestive autoimmune encephalitis and myelitis. The serum anti-GAD antibody was positive, and the diagnosis of PERM was made. She had fluctuating clinical response despite intravenous immunoglobulin, steroids, plasmapheresis, and symptomatic medications. Eventually, in the fourth month since admission, she showed gradual and persistent clinical improvement after introducing rituximab. She was discharged after 6 months of hospitalization, and no relapse was observed in the first 3 years of follow-up. PERM is a rare and underrecognized condition in children. Contrary to previous reports, our case describes an aggressive and life-threatening presentation for PERM. Vague symptoms and the lack of gold diagnostic tests hinder a timely diagnosis. Our study also highlights the need for developing standardized diagnostic criteria and consensus in managing PERM.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"88 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135657283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effect of Internalized Stigma on Peer Relationships in Adolescents with Attention-Deficit/Hyperactivity Disorder 内化耻感对注意缺陷/多动障碍青少年同伴关系的影响

IF 0.2

Journal of pediatric neurology Pub Date : 2023-06-02 DOI: 10.1055/s-0043-1772159

Tülay Yildirim Üşenmez, Gülbeyaz Baran Durmaz, F. Budak

{"title":"Effect of Internalized Stigma on Peer Relationships in Adolescents with Attention-Deficit/Hyperactivity Disorder","authors":"Tülay Yildirim Üşenmez, Gülbeyaz Baran Durmaz, F. Budak","doi":"10.1055/s-0043-1772159","DOIUrl":"https://doi.org/10.1055/s-0043-1772159","url":null,"abstract":"Abstract This study aimed to determine the effect of internalized stigma on peer relationships in adolescents with attention-deficit/hyperactivity disorder (ADHD). The study was conducted in a Special Education and Rehabilitation Center between August and September 2022. The correlational and cross-sectional study sample consisted of 70 adolescents with ADHD. The Descriptive Characteristics Form, the Internalized Stigma Scale for Children and Adolescents, and the Peer Relationship Scale were used to collect the data. It was determined that the mean total score of internalized stigma levels of adolescents was 93.24 (16.16), and the mean total score of peer relationships was 53.78 (10.76). It was determined that there was a strong negative correlation between the total score of internalized stigma and peer relationships ( r = − 0.748, p = 0.001). In addition, it was determined that internalized stigma predicted peer relationships by 55%. It can be said that internalized stigma and peer relationships of adolescents are moderate, and as adolescents' internalized stigma levels increased, their peer relationships decreased.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"27 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89906729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Intracranial MRI Findings in a Patient with FBXO11 -Related Disorder 1例FBXO11相关疾病患者的颅内MRI表现

IF 0.2

Journal of pediatric neurology Pub Date : 2023-05-25 DOI: 10.1055/s-0043-1772491

Vishal Chandra, A. Aggarwal, Amanda Moen, S. Strul, C. Özütemiz

引用次数: 0

Pathogenic Variant in the TAF6 Gene in a Bulgarian Patient with the Ultrarare Alazami-Yuan Syndrome 保加利亚一例超罕见Alazami-Yuan综合征患者TAF6基因致病性变异

IF 0.2

Journal of pediatric neurology Pub Date : 2023-05-22 DOI: 10.1055/s-0043-1772575

S. Staykova, Maya Atanasoska, M. Gaydarova, L. Balabanski, I. Bradinova, R. Vazharova

{"title":"Pathogenic Variant in the TAF6 Gene in a Bulgarian Patient with the Ultrarare Alazami-Yuan Syndrome","authors":"S. Staykova, Maya Atanasoska, M. Gaydarova, L. Balabanski, I. Bradinova, R. Vazharova","doi":"10.1055/s-0043-1772575","DOIUrl":"https://doi.org/10.1055/s-0043-1772575","url":null,"abstract":"Abstract We present a case of a 15-year-old girl, referred for genetic analysis based on clinical evidence of intellectual disability and dysmorphic features with unknown etiology. Following genetic testing, the proband was diagnosed with Alazami-Yuan syndrome (ALYUS). ALYUS is a rare autosomal recessive disorder characterized by developmental delay, intellectual disability, poor speech, and congenital anomalies. Whole-genome sequencing and targeted analysis of 1,610 genes associated with intellectual disability and dysmorphic features were performed. One pathogenic homozygous missense variant in the TAF6 gene was identified (NM_139315.3:c.212T > C, p.Ile71Thr). The finding has been previously reported in scientific publications and detected in individuals with ALYUS. ALYUS occurs phenotypically in the presence of at least two pathogenic variants of the TAF6 gene in either homozygous or compound heterozygous state, regardless of the individual's sex. To date, seven patients from four families have been reported. To our knowledge, our proband is the first individual with ALYUS in Europe and in particular in Bulgaria. Clarification of our patient's genetic diagnosis provided precise genetic counseling for the family, allowed doctors to take appropriate measures for the proband's treatment, and gave options for disease prevention in the future offspring.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"57 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86942687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency 1型戊二酸尿神经退化的罕见可治并发症:维生素B12缺乏

IF 0.2

Journal of pediatric neurology Pub Date : 2023-05-21 DOI: 10.1055/s-0043-1771353

V.K. Gowda, Asha Shamnur, Varunvenkat M Srinivasan, Dhananjaya K. Vamyanmane

引用次数: 0

Comprehensive Clinical and Neuroimaging Review of Posterior Fossa Hemorrhage in Preterm and Term Newborns 早产儿和足月新生儿后颅窝出血的临床和神经影像学综合评价

IF 0.2

Journal of pediatric neurology Pub Date : 2023-05-02 DOI: 10.1055/s-0043-1771380

M. Hsu, Zahra Zhu, S. Islam, Ryan J Chang, Nouran H Hammad, Kalyan C. Bonda, Ermal Aliu, Chintan Gandhi, G. Mainali, K. Thamburaj, S. Naik

引用次数: 0

Effects of Hemogram Parameters on Remission Durations in Self-Limited Epilepsy with Centrotemporal Spikes 血流图参数对自限性癫痫伴中央颞叶尖峰缓解持续时间的影响

IF 0.2

Journal of pediatric neurology Pub Date : 2023-04-17 DOI: 10.1055/s-0043-1770080

Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, U. Yiş

{"title":"Effects of Hemogram Parameters on Remission Durations in Self-Limited Epilepsy with Centrotemporal Spikes","authors":"Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, U. Yiş","doi":"10.1055/s-0043-1770080","DOIUrl":"https://doi.org/10.1055/s-0043-1770080","url":null,"abstract":"Abstract The hemogram parameters have been extensively discussed in numerous diseases, including epilepsy, for their diagnostic and prognostic values. We aimed to investigate the impact of hemogram parameters, namely, the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR) at the time of the first seizure on the remission durations of the patients with self-limited epilepsy with centrotemporal spikes (SeLECTS). This retrospective study was conducted on patients with SeLECTS with a minimum follow-up of 2 years. We assessed the hemogram parameters obtained from the venous blood samples collected from the patients upon admission. The duration of remission was categorized into two groups for further data analysis: those with a remission period less than 2 years and those with a remission period of more than 2 years. This study involved 122 patients with SeLECTS, of which 85% ( n = 102) had remission durations of ≤2 years. The analysis revealed that patients with remission durations exceeding 2 years had a significantly higher median leukocyte ( p = 0.009), neutrophil ( p < 0.001), and platelet ( p < 0.001) counts. Additionally, higher levels of NLR and PLR were observed in patients with longer-term remission ( p < 0.001). However, there were no significant differences between the two groups in terms of lymphocyte count, monocyte count, mean platelet volume, or LMR. Leukocyte, neutrophil, platelet, NLR, and PLR counts have shown potential as predictive indicators of remission times in patients with SeLECTS. Neurologists can potentially find value in these easily accessible parameters when evaluating the future trajectory of patients with SeLECTS.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"20 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79423807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Infantile Tremor Syndrome: A Case Series 婴儿震颤综合征:一个病例系列

IF 0.2

Journal of pediatric neurology Pub Date : 2023-04-04 DOI: 10.1055/s-0043-1769479

A. Saoji, S. Save, S. Rastogi

{"title":"Infantile Tremor Syndrome: A Case Series","authors":"A. Saoji, S. Save, S. Rastogi","doi":"10.1055/s-0043-1769479","DOIUrl":"https://doi.org/10.1055/s-0043-1769479","url":null,"abstract":"Abstract Infantile tremor syndrome (ITS) is a rare clinical disorder characterized by coarse tremors, anemia, and regression/delay of development in children around 6 months to 1 year of age belonging to poor socioeconomic strata and on milk-based diet. It accounts for 0.2 to 2% cases in India. No conclusive etiology has been ascertained so far. Nutritional deficiency (like vitamin B12, magnesium, vitamin C, zinc) is the most accepted association. We report six such cases that presented to our hospital with the classical neurological, dermatological, and hematological findings of ITS. Investigations revealed all cases to be vitamin B12 deficient. Two of our cases had corticocerebral atrophy on neuroimaging. One case expired due to respiratory failure due to severe pneumonia. Others were treated with vitamin B12 injections. Other nutrients like iron, zinc, folic acid, and magnesium were also supplemented. Routine follow-up of these cases showed gradual improvement in clinical, hematological, and neurological parameters. Although rare, ITS should be considered in any infant presenting with anemia, malnutrition, developmental delay, hyperpigmentation, and tremors. Early treatment can prevent neurological sequelae as it is largely a preventable disease. Regular follow-up is helpful to evaluate response to treatment.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"47 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85441064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0