Journal of Child Neurology最新文献_第6页

Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR). 通信清单缺陷-观察者报告（CID-OR）的内容验证。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-03 DOI: 10.1177/08830738251369138

Jessica Keeley, Jacinta Saldaris, Sofia Benson-Goldberg, Judy Lariviere, Helen Leonard, Eric D Marsh, Scott T Demarest, Tim A Benke, Peter Jacoby, Jenny Downs

{"title":"Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR).","authors":"Jessica Keeley, Jacinta Saldaris, Sofia Benson-Goldberg, Judy Lariviere, Helen Leonard, Eric D Marsh, Scott T Demarest, Tim A Benke, Peter Jacoby, Jenny Downs","doi":"10.1177/08830738251369138","DOIUrl":"10.1177/08830738251369138","url":null,"abstract":"CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported (CID-OR) was developed from a framework of communication derived from parent/caregiver interview data (n = 23), in consultation with disability and communication experts, and after reviewing concepts in existing measures. In this study, parents and caregivers (n = 21) took part in 1-hour semistructured think-aloud online interviews. A directed content analysis was conducted using both deductive and inductive coding. Findings suggest that CID-OR was comprehensive, comprehensible, and relevant. Multiple small adjustments were made to improve clarity and representativeness and reduce caregiver burden based on feedback in the data. This content validity study is an important element in the process of developing an effective measure of communication of people with CDKL5 deficiency disorder.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251369138"},"PeriodicalIF":1.6,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12484243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144955696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluating the Performance of the Modified Mini-Mental State Examination for Children (MMSEc) to Screen for Intellectual Disability in Children With and Without Epilepsy. 评估儿童简易精神状态检查（MMSEc）筛查有和无癫痫儿童智力残疾的效果。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-03 DOI: 10.1177/08830738251371334

Ayushi Singh, Vini Jhariya, Gouri Rao Passi

引用次数: 0

Correlation of Umbilical Cord Arterial pH and Standard Base Excess in Term Neonates With Neurologic Examination at Discharge: A Cohort Study. 足月新生儿脐带动脉pH值和标准碱性超标与出院时神经系统检查的相关性：一项队列研究。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-01 Epub Date: 2025-04-21 DOI: 10.1177/08830738251329152

Priyanshi Dudeja, Shalini Tripathi, Mala Kumar, S N Singh

{"title":"Correlation of Umbilical Cord Arterial pH and Standard Base Excess in Term Neonates With Neurologic Examination at Discharge: A Cohort Study.","authors":"Priyanshi Dudeja, Shalini Tripathi, Mala Kumar, S N Singh","doi":"10.1177/08830738251329152","DOIUrl":"10.1177/08830738251329152","url":null,"abstract":"BackgroundUmbilical cord arterial pH less than 7.0 and base excess ≥12 mmol/L are associated with adverse short and long-term neurologic outcomes. Hammersmith Neonatal Neurological Examination (HNNE) is used to predict long-term neurologic outcomes; its validity has been established at discharge.MethodsThis study was done to find the correlation between umbilical cord arterial pH and standard base excess with HNNE score, subsection scores at discharge. Fifty-five term neonates with perinatal asphyxia defined as umbilical cord arterial pH <7.0 and/or base excess ≥12 mmol/L and 55 healthy neonates with umbilical cord arterial pH >7.2 were examined by HNNE scores at discharge and the correlation between umbilical cord arterial pH and standard base excess with HNNE score was calculated.ResultsAmong 55 neonates with perinatal asphyxia, all developed hypoxic-ischemic encephalopathy (HIE) with 21 (38%) at stage I, 26 (47%) stage II, and 8 (15%) stage III. The mean HNNE scores of neonates with perinatal asphyxia were lower than healthy neonates (20.2 ± 3.13 vs 31.65 ± 1.92; P < .0001). The difference was significant in subsection scores too. On plotting HNNE scores and umbilical cord arterial pH on a linear scale, Pearson correlation coefficient showed good correlation (r = 0.797, 95% CI 0.716-0.857; R2 0.636; P < .001) between the two. On plotting HNNE scores and standard base excess on a linear scale, Pearson correlation coefficient showed negative poor correlation (r = -0.349, with 95% CI 0.17 to 0.50, P < .001).ConclusionHNNE scores at discharge were significantly lower among term neonates with perinatal asphyxia than in healthy neonates. There was good correlation between umbilical cord arterial pH and HNNE scores at discharge. Standard base excess was not associated with HNNE scores.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"651-657"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information. 肌萎缩症青少年接受遗传信息的兴趣与经验。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-01 Epub Date: 2025-04-17 DOI: 10.1177/08830738251330413

Leah Hammond, Christina Ippolito, Kimberly Amburgey, David Chitayat, Stacy Hewson, Laura McAdam

{"title":"Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information.","authors":"Leah Hammond, Christina Ippolito, Kimberly Amburgey, David Chitayat, Stacy Hewson, Laura McAdam","doi":"10.1177/08830738251330413","DOIUrl":"10.1177/08830738251330413","url":null,"abstract":"Growing public awareness of genetic research, increased availability of genetic testing options, and the recent arrival of several gene-targeted therapies have combined to make genetic testing a topic of interest within many disease communities, including muscular dystrophies. We sought to investigate the genetic information received, the genetic services provided, the genetic information and services of interest to young adults with muscular dystrophy, and to identify existing gaps in the delivery of genetic information and services. Young adults with muscular dystrophy were surveyed about their interests and experiences in receiving genetic information/testing. Surveys were completed by 226 young adults with muscular dystrophy (150 male, 72 female; mean age = 21.6 years, range = 16-25 years) from Canada and the United States. Approximately 60% or less of respondents felt knowledgeable about genetic topics, including inheritance and reproductive options. Only 28% of respondents had previously met with a genetic counselor and 60% of respondents wanted to obtain more information. Findings highlight gaps between the receipt of and interest in genetic information.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"641-650"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12332222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review. 先天性局限性色素减退症作为严重神经系统受累的线索：最新综述。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-01 Epub Date: 2025-05-04 DOI: 10.1177/08830738251336408

Piero Pavone, Xena Giada Pappalardo, Filippo Greco, Claudia Parano, Raffaele Falsaperla, Agata Polizzi, Martino Ruggieri

{"title":"Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.","authors":"Piero Pavone, Xena Giada Pappalardo, Filippo Greco, Claudia Parano, Raffaele Falsaperla, Agata Polizzi, Martino Ruggieri","doi":"10.1177/08830738251336408","DOIUrl":"10.1177/08830738251336408","url":null,"abstract":"In clinical practice, cutaneous disorders associated with neurologic involvement are relatively common, as both cutaneous and systems often originate from similar or synchronous embryonic mechanisms. Cutaneous hypopigmentation includes a wide range of disorders that can be categorized congenital and acquired based on the onset, and as localized and generalized types, depending on their skin distribution. Although cutaneous hypopigmentation may appear as a benign clinical manifestation, its association with neurologic or others systemic involvement can indicate more severe underlying disorders. This literature review focuses on congenital localized types of cutaneous hypopigmentation that are classically linked to neurologic impairment. Four congenital disorders were highlighted for their characteristic presentation of localized cutaneous hypopigmentation and neurologic involvement: Waardenburg syndrome, incontinentia pigmenti, hypomelanosis of Ito, and tuberous sclerosis complex.Clinical and genetic findings for these conditions were reviewed and updated, with an emphasis on the cutaneous manifestations, associated systemic anomalies, and neurologic involvement. Established diagnostic criteria and emerging trends in therapeutic approaches were also explored. Promising results, particularly the use of mammalian target of rapamycin (mTOR) in the treatment of tuberous sclerosis complex, highlight the potential for improved outcomes. Early diagnosis, rapid treatment, and innovative therapies may play a crucial role in positively altering the clinical course of these disorders.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"708-721"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Surviving Grade 4 ICANS: A Case Report and Discussion of Emerging Management Strategies. 幸存的4级ICANS：一个案例报告和新兴管理策略的讨论。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-01 Epub Date: 2025-05-15 DOI: 10.1177/08830738251335055

Alexander J Jonokuchi, Amy W Yu, Gurcharanjeet Kaur, Prakash Satwani, Ran Reshef, Sarah F Wesley

引用次数: 0

The Impact of Mild to Moderate Pediatric Chronic Kidney Disease on Neurocognitive Function: A Systematic Review. 轻中度儿童慢性肾病对神经认知功能的影响：一项系统综述。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-01 Epub Date: 2025-06-22 DOI: 10.1177/08830738251346994

Elham Pourbakhtyaran, Reza Shervin Badv, Elham Bidabadi, Farahnak Assadi

{"title":"The Impact of Mild to Moderate Pediatric Chronic Kidney Disease on Neurocognitive Function: A Systematic Review.","authors":"Elham Pourbakhtyaran, Reza Shervin Badv, Elham Bidabadi, Farahnak Assadi","doi":"10.1177/08830738251346994","DOIUrl":"10.1177/08830738251346994","url":null,"abstract":"The spectrum of brain injury and the causative pathways in children with chronic kidney disease is largely unknown. We searched PubMed, Google Scholar, Embase, and Web of Science by combining synonyms of pediatric mild to moderate chronic kidney disease and brain lesions for the past 10 years. This resulted in 63 articles, of which 11 were finally included. The results from this study show that pediatric mild to moderate chronic kidney disease is associated with a variety of neurocognitive dysfunctions. Chronic kidney disease can experience a variety of neurologic disorders affecting the central nervous system and peripheral neuropathies. Clinical variables that can affect neurologic functioning include the severity and duration of chronic kidney disease, electrolytes, acid-base disequilibrium, hypertension, hypercoagulability, and underlying immunologic disturbances. Early diagnosis and proper management of these complications are essential for preventing long-term neurologic sequelae. Future studies are needed to understand the causative pathway better and establish whether preventive strategies and adequate management are beneficial.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"722-728"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144368894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy. 先天性肌营养不良的不典型表现：一种LAMA2相关的肌营养不良。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-01 Epub Date: 2025-04-29 DOI: 10.1177/08830738251333467

Sarah Oswald, Martha Finch, Abigail Schwaede

{"title":"Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy.","authors":"Sarah Oswald, Martha Finch, Abigail Schwaede","doi":"10.1177/08830738251333467","DOIUrl":"10.1177/08830738251333467","url":null,"abstract":"The congenital muscular dystrophies are a group of inherited disorders that present in infancy or early childhood with generalized weakness and hypotonia as well as a wide range of other clinical manifestations. Merosin-deficient congenital muscular dystrophy, also referred to as LAMA2-related muscular dystrophy, is caused by biallelic pathogenic variants in the LAMA2 gene and can present with both an early-onset infantile and late-onset childhood form. Patients with the most severe phenotype typically present within the first few months of life with severe weakness and hypotonia and can develop contractures, scoliosis, dysphagia, as well as peripheral nerve and central nervous system abnormalities. We report a case of an infant that presented with focal weakness of his upper extremities that was initially thought to be due to cervical spinal abnormality or brachial plexus injury but was ultimately found to have Merosin-deficient congenital muscular dystrophy. This case highlights an atypical presentation of congenital muscular dystrophy and demonstrates the importance of having a low threshold for testing for congenital muscular dystrophies in infants with abnormalities in strength or tone.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"674-677"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

New Clinical Phenotype in a Child Presenting With an FHL1 Mutation. 以FHL1突变为表现的儿童的新临床表型

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-01 Epub Date: 2025-05-19 DOI: 10.1177/08830738251332749

Martha Finch, Sarah Oswald, Vamshi K Rao, Abigail Schwaede

引用次数: 0

Pediatric-Onset Neuromyelitis Optica Spectrum Disorder: Long-term Follow-up and Therapeutic Challenges in a Treatment-Resistant Case. 儿科发病的视神经脊髓炎谱系障碍：长期随访和治疗的挑战在治疗抵抗的情况下。

IF 1.6 4区医学

Journal of Child Neurology Pub Date : 2025-09-01 Epub Date: 2025-05-21 DOI: 10.1177/08830738251340278

Mehmet Fatih Yetkin, Şeyma Benli, Meral Mirza

引用次数: 0