Pediatric neurology最新文献

{"title":"Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome","authors":"Kent M. Mok MD ,&nbsp;Jessica L. Carpenter MD ,&nbsp;Pamela Herrada MS, CGC ,&nbsp;Carol Greene MD ,&nbsp;Sandrine Yazbek MD ,&nbsp;Gozde Erdemir MD","doi":"10.1016/j.pediatrneurol.2024.09.016","DOIUrl":"10.1016/j.pediatrneurol.2024.09.016","url":null,"abstract":"<div><h3>Background</h3><div>This report describes a pediatric case of megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, a rare neurodevelopmental disorder caused by pathogenic variants in the <em>AKT3</em>, <em>CCND2</em>, or <em>PIK3R2</em> genes. We present a patient with a rare <em>CCND2</em> variant (c.839C&gt;T, p.Thr280Ile), associated with infantile spasms, ventriculomegaly, polymicrogyria, and intraventricular hemorrhage (IVH).</div></div><div><h3>Methods</h3><div>A retrospective chart review and literature search were performed using PubMed.</div></div><div><h3>Results</h3><div>Our patient was found to have ventriculomegaly, grade 3 IVH, bilateral polymicrogyria, and restricted diffusion in the caudate nuclei prenatally. No polydactyly was observed. The patient developed infantile spasms at age 5 months. While high-dose prednisone treatment failed to control the spasms, they resolved with topiramate. By age 2 years, the patient continued to have significant developmental delays, including having poor tone and being nonverbal.</div></div><div><h3>Conclusion</h3><div>MPPH syndrome remains a rare and challenging diagnosis, with fewer than 100 cases reported. This case highlights the importance of early genetic testing and neuroimaging in the diagnosis and management of MPPH. The unique presentation of IVH and restricted diffusion warrants further investigation into the syndrome’s variable phenotypic spectrum. Early intervention and targeted therapy may help manage seizure activity and improve outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 185-187"},"PeriodicalIF":3.2,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142426925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder","authors":"Kristen Barbour MD ,&nbsp;Matthew N. Bainbridge PhD ,&nbsp;Kristen Wigby MD ,&nbsp;Aaron D. Besterman MD ,&nbsp;Nathaniel A. Chuang MD ,&nbsp;Laura E. Tobin MPH ,&nbsp;Miguel Del Campo MD ,&nbsp;Jerica Lenberg MS ,&nbsp;Lynne M. Bird MD ,&nbsp;Jennifer Friedman MD","doi":"10.1016/j.pediatrneurol.2024.09.015","DOIUrl":"10.1016/j.pediatrneurol.2024.09.015","url":null,"abstract":"<div><h3>Background</h3><div><em>RNU4</em>-<em>2</em> is a newly identified, noncoding gene responsible for a significant proportion of individuals with neurodevelopmental disorders (NDDs). Diagnosis is hampered by the inability of commonly employed clinical testing methods, including exome sequencing and currently formulated multigene panels, to detect variants in the noncoding region. The relatively high prevalence of this condition, predicted to affect thousands of undiagnosed children with NDDs, makes it even more relevant to have better tools to facilitate diagnosis. The initial report of the gene-disease association outlined aggregate phenotypic features but lacked detailed patient evaluations, potentially under-reporting phenotypic features and failing to highlight unique aspects. We aimed to identify individuals with <em>RNU4</em>-<em>2</em> gene variants to deeply phenotype the clinical profile. We sought to define key features that may suggest the diagnosis, to highlight individuals for whom specialized testing, able to detect noncoding region variants, may be indicated.</div></div><div><h3>Methods</h3><div>We reviewed genomic data from 6,734 individuals, identifying five with recurrent <em>de novo RNU4</em>-<em>2</em> (n.64_65insT) variants. We clinically evaluated four. Findings were compared with those previously reported.</div></div><div><h3>Results</h3><div>We identify common clinical features, a distinctive dysmorphic facial pattern, and shared imaging abnormalities. We describe novel aspects including longitudinal trajectory and treatment response.</div></div><div><h3>Conclusions</h3><div>Enhanced recognition of the <em>RNU4</em>-<em>2</em> (n.64_65insT-common variant) phenotype, particularly the dysmorphic facial features, will facilitate earlier diagnosis. Distinctive characteristics will guide the selection of patients for testing able to detect <em>RNU4</em>-<em>2</em> variants: genome sequencing or targeted gene testing. Furthermore, health and research systems may identify undiagnosed patients by querying databases for individuals exhibiting the traits described herein.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 188-193"},"PeriodicalIF":3.2,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142444955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Precision in Progress: Unraveling the Clinimetric Properties of Beery-Buktenica Developmental Test of Visual-Motor Integration in Children With Cerebral Palsy Across Diverse Motor Severities","authors":"Yu-Hsin Chen MD ,&nbsp;Chia-Ling Chen MD, PhD ,&nbsp;Wei-Hsien Hong PhD ,&nbsp;Chung-Yao Chen MD ,&nbsp;Chia-Ying Chung MD ,&nbsp;Katie P.H. Wu MD ,&nbsp;Ching-Yi Wu ScD ,&nbsp;Keh-Chung Lin ScD, OTR","doi":"10.1016/j.pediatrneurol.2024.09.017","DOIUrl":"10.1016/j.pediatrneurol.2024.09.017","url":null,"abstract":"<div><h3>Background</h3><div>In the realm of pediatric cerebral palsy (CP), visual motor challenges often overshadow a child's developmental journey. This study delves into the responsiveness and crucial benchmarks, specifically the minimal clinically important difference (MCID), of the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) among children with varying motor severities.</div></div><div><h3>Method</h3><div>Eighty-eight children with CP (50 males, 38 females; aged three to 12 years) with Gross Motor Function Classification System (GMFCS) levels I to III were recruited from the rehabilitation department of Chang Gung Memorial Hospital in Taiwan. Each participant received the Beery VMI tests at baseline and at one-year follow-up. The standardized response mean (SRM) was calculated to determine the responsiveness of Beery VMI, and a distribution-based approach was used to estimate MCID.</div></div><div><h3>Results</h3><div>The Beery VMI exhibited remarkable responsiveness across GMFCS levels I to III (SRM = 0.98-2.36). MCIDs for Beery VMI varied across severities, with ranges of 2.93 to 4.41 (0.2 S.D.), 7.31 to 11.49 (0.5 S.D.), and 11.70 to 18.38 (0.8 S.D.). Notably, in the visual perception subset, MCIDs were 3.93 to 4.03 (0.2 S.D.), 9.83 to 10.07 (0.5 S.D.), and 15.73 to 16.11 (0.8 S.D.). In the supplemental motor coordination subtest, MCIDs spanned 1.67 to 4.87 (0.2 S.D.), 4.18 to 12.17 (0.5 S.D.), and 6.68 to 19.47 (0.8 S.D.).</div></div><div><h3>Conclusions</h3><div>Beery VMI demonstrates robust responsiveness in children with CP. Motor-severity-tailored MCIDs offer a guide for clinicians and researchers, hinting at treatment efficacy. Particularly, lower change scores in VMI and motor coordination subtests may signal effective interventions for moderate motor disability over mild cases.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 139-143"},"PeriodicalIF":3.2,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cortical Gyrification Is Associated With the Clinical Phenotype in Tuberous Sclerosis Complex","authors":"Nicolò Trevisan PhD ,&nbsp;Francesco Brunello MD ,&nbsp;Fabio Sambataro MD, PhD ,&nbsp;Gaia Biscalchin MD ,&nbsp;Margherita Nosadini MD, PhD ,&nbsp;Stefano Sartori MD, PhD ,&nbsp;Concetta Luisi MD, PhD ,&nbsp;Maria Federica Pelizza MD ,&nbsp;Renzo Manara MD ,&nbsp;Irene Toldo MD, PhD","doi":"10.1016/j.pediatrneurol.2024.09.012","DOIUrl":"10.1016/j.pediatrneurol.2024.09.012","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous sclerosis complex (TSC) is characterized by cortical tubers, determining cortical disarrangement and consequently drug-resistant epilepsy, intellectual disability, and TSC-associated neuropsychiatric disorders (TAND).</div></div><div><h3>Aim of the study</h3><div>To establish whether gyrification index (GI), a software-based neuroradiological parameter, could be associated with the severity of phenotype in TSC, identifying the cortical regions that are more associated with the severity of the main clinical manifestations.</div></div><div><h3>Methods</h3><div>This was a retrospective cross-sectional study. Magnetic resonance imaging was acquired on a 1.5-T scanner. CAT12 toolbox was used for the estimation of GI. Data analysis was performed with Jamovi. The level of significance was set to <em>P</em> &lt; 0.05 for all tests.</div></div><div><h3>Results</h3><div>Forty-five patients with TSC and 42 healthy controls were included. Patients with TSC were characterized by higher total GI (<em>P</em> = 0.002) compared with healthy controls. Among patients with TSC, a higher total GI was associated with impaired neurological examination (<em>P</em> = 0.039), epilepsy (<em>P</em> = 0.017), intellectual disability (<em>P</em> = 0.013), TAND (<em>P</em> = 0.013), and higher number of cortical tubers (<em>P</em> &lt; 0.001). An increased local GI in specific cortical areas was associated with TAND and autism spectrum disorders.</div></div><div><h3>Conclusions</h3><div>GI is a software-based neuroradiological parameter that could represent a reliable overall prognostic marker in TSC. Local GI can be used to identify phenotype-specific gyrification patterns allowing an early characterization of patients with TSC.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 170-175"},"PeriodicalIF":3.2,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142406694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum","authors":"Kuntal Sen MD ,&nbsp;Alonso Zea Vera MD ,&nbsp;Anna Puronurmi MD ,&nbsp;Andrea Gropman MD ,&nbsp;Parith Wongkittichote MD ,&nbsp;Rebecca Ganetzky MD ,&nbsp;Kaija Autio PhD ,&nbsp;Alexander Kastaniotis PhD","doi":"10.1016/j.pediatrneurol.2024.09.013","DOIUrl":"10.1016/j.pediatrneurol.2024.09.013","url":null,"abstract":"<div><h3>Background</h3><div>Lipoyl transferase 2 is involved in the biosynthesis of lipoate. Lipoate is the cofactor for the glycine cleavage system and four dehydrogenase enzymes. Biallelic variants in LIPT2 causing severe neonatal encephalopathy was first described in 2017.</div></div><div><h3>Methods</h3><div>Clinical data were collected by retrospective chart review after obtaining consent from parents. The pathogenicity of these variants was further delineated using a yeast model. The YEp352-LIPT2 plasmid was used as a template to generate the two patient variants using QuickChange Lightning Site-Directed Mutagenesis Kit.</div></div><div><h3>Results</h3><div>The patient was a 15-month-old female who presented at one month with dystonia, developmental delay, and feeding difficulties. Brain magnetic resonance imaging showed cortical malformations including colpocephaly, polymicrogyria, and heterotopia. Patient had elevations in lactate (6.1 mmol/L) and glycine. Exome sequencing showed two variants of uncertain significance in <em>trans</em> in the LIPT2 gene: c.346 G&gt;T and c.418C&gt;T. Patient was started on lipoic acid, thiamine, and COQ10. Yeast complementation experiments indicate that both patient mutant variants result in diminished function versions of the LIPT2 protein.</div></div><div><h3>Conclusion</h3><div>We report the fourth case of LIPT2-related disorder. Proband shared significant overlap with previous patients; however, there was a distinct movement disorder and brain malformations, which have not been previously described. Unlike most neurometabolic disorders where dystonia develops later after metabolic stroke in basal ganglia, LIPT2-related disorder seems unique due to early onset of dystonia due to energy deficit in the developing brain. Lipoic acid supplementation has not led to significant clinical improvement. Analyses in yeast indicate that novel variants are deleterious but have retained some functionality.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 32-39"},"PeriodicalIF":3.2,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rate of Autoimmune Encephalitis in Children With First-Episode Psychosis","authors":"Geffen Treiman MD, MPH ,&nbsp;Laura Blackwell PhD ,&nbsp;Robyn Howarth PhD ,&nbsp;Grace Gombolay MD, MSc","doi":"10.1016/j.pediatrneurol.2024.09.011","DOIUrl":"10.1016/j.pediatrneurol.2024.09.011","url":null,"abstract":"<div><h3>Background</h3><div>Autoimmune encephalitis (AE) can present as first-episode psychosis (FEP) in children. An FEP diagnostic algorithm has been proposed, but how this algorithm applies to children is unknown. We assess the FEP diagnostic algorithm in children with FEP.</div></div><div><h3>Methods</h3><div>The FEP algorithm was applied to a retrospective cohort of children with FEP without other neurological symptoms.</div></div><div><h3>Results</h3><div>Twenty-four patients were included, with five AE (anti-<em>N</em>-methyl-d-aspartate receptor encephalitis) and 19 non-AE patients (12 primary psychiatric, two headaches, mycoplasma-related encephalitis, post–coronavirus disease 2019 encephalitis, drug reaction with eosinophilia and systemic symptoms [DRESS] syndrome, cobalamin C deficiency, and two unknown). Some non-AE patients (five of 19 = 26%) received immunotherapies, with symptom resolution in one of five (20%) with immunotherapy and in four of 14 (29%) without immunotherapy. The FEP algorithm recommended cerebrospinal fluid (CSF) testing in all (five of five = 100%) patients with AE and in six of 19 (32%) non-AE patients, resulting in 100% sensitivity (95% confidence interval [CI]: 100% to 100%) and 45.5% specificity (95% CI: 16% to 75%), with a negative predictive value of 100% (95% CI: 100% to 100%).</div></div><div><h3>Conclusions</h3><div>FEP can occur in children from different causes, including AE and metabolic conditions. Evaluation of FEP should be broad, especially without CSF evidence of inflammation. The FEP algorithm is useful to assess patients who would benefit from CSF testing and should be assessed in larger cohorts.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 113-116"},"PeriodicalIF":3.2,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Potential Role of Sleep Disturbance in the Development of Early Puberty: Past Clinical Evidence for Future Management","authors":"Dolrutai Puttawong MD ,&nbsp;Karn Wejaphikul MD, PhD ,&nbsp;Chanisa Thonusin MD, PhD ,&nbsp;Prapai Dejkhamron MD ,&nbsp;Nipon Chattipakorn MD, PhD ,&nbsp;Siriporn C. Chattipakorn DDS, PhD","doi":"10.1016/j.pediatrneurol.2024.09.010","DOIUrl":"10.1016/j.pediatrneurol.2024.09.010","url":null,"abstract":"<div><div>The incidence of early puberty in children has been increasing. It has been suspected that both genetic and various environmental factors such as nutrition and hormonal exposure could influence the mechanisms underlying the earlier onset of puberty. Interestingly, several previous studies have reported a strong connection between sleep and puberty. Specifically, it was discovered that luteinizing hormone (LH), a potential marker for the onset of puberty, was increased during the deep sleep period. Furthermore, a high prevalence of early puberty was observed in patients with sleep disorders, especially in those experiencing narcolepsy. In this review article, findings related to the association between sleep disturbance and early puberty have been comprehensively summarized. Any contrary findings are also included and discussed. Advances in the knowledge surrounding sleep disturbance have led to a greater understanding of a correlation between early puberty and sleep disorder and provide alternative therapeutic options for the treatment of central precocious puberty in the future.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 117-124"},"PeriodicalIF":3.2,"publicationDate":"2024-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Comparison of Treatment Practices for Newborn Seizure Management Across Level II and III Neonatal Intensive Care Units in the United States","authors":"Jacky A. Dickman BS ,&nbsp;Jennifer C. Keene MD ,&nbsp;Niranjana Natarajan MD ,&nbsp;Lindsey A. Morgan MD ,&nbsp;Melisa Carrasco MD, PhD","doi":"10.1016/j.pediatrneurol.2024.09.006","DOIUrl":"10.1016/j.pediatrneurol.2024.09.006","url":null,"abstract":"<div><h3>Background</h3><div>Neonatal seizures (NS) represent an important clinical manifestation among critically ill infants and are often the first sign of underlying brain injury. Early recognition and treatment are essential to reduce morbidity and mortality. The present study investigated the NS management and treatment approaches employed by level II/III neonatal intensive care units (NICUs) across the United States to identify areas of consensus and variability.</div></div><div><h3>Methods</h3><div>Personnel associated with level II/III NICUs were directly surveyed with an electronic questionnaire. Access to neurology specialists, on-site electroencephalography (EEG) monitoring, and use of antiseizure medications was directly queried. A total of 51 NICUs participated in this survey.</div></div><div><h3>Results</h3><div>Twenty-five percent of the surveyed NICUs reported having an established clinical practice pathway available for treating NS. Twenty-four percent endorsed having written guidelines that provided a formal definition for the concept of “neonatal seizures.” Although the majority of NICUs reported having phenobarbital available for rapid seizure management, most NICUs lacked access to additional antiseizure medications for treatment escalation. Twenty-four percent of the surveyed NICUs had no access to EEG monitoring available to them on-site. Daytime and overnight access to neurology consultants was limited and variable.</div></div><div><h3>Conclusions</h3><div>Findings were consistent with a lack of equitable access for NS treatment. Areas of potential improvement include development and implementation of a protocol for rapidly treating NS that emphasizes enhanced access to EEG and rapid neurology consultation, acknowledging and improving upon resource limitations. These developments may eventually provide earlier detection, evaluation, and treatment of seizures in newborns, contributing to improved long-term outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 108-112"},"PeriodicalIF":3.2,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing","authors":"Nitish Chourasia MD ,&nbsp;Rohan Vaidya DO ,&nbsp;Soham Sengupta PhD ,&nbsp;Heather C. Mefford MD, PhD ,&nbsp;James Wheless MD","doi":"10.1016/j.pediatrneurol.2024.09.009","DOIUrl":"10.1016/j.pediatrneurol.2024.09.009","url":null,"abstract":"<div><h3>Background</h3><div>The interpretation and communication of variant of uncertain significance (VUS) genetic results often present a challenge in clinical practice. VUSs can be reclassified over time into benign/likely benign (B/LB) or pathogenic/likely pathogenic (P/LP) based on the availability of updated data. We evaluate the frequency of VUS reclassification in our tertiary care epilepsy cohort undergoing epilepsy genetic panel (EGP) testing.</div></div><div><h3>Methods</h3><div>Patients with established diagnoses of epilepsy (neonates to 18 years of age) who underwent EGP testing between 2017 and 2022 from a single commercial laboratory were evaluated. Patients who had any variant reclassified from their initial EGP report were included. Duration between reclassification of VUSs and types of reclassifications were compared between developmental and epileptic encephalopathy (DEE) versus non-DEE phenotypes.</div></div><div><h3>Results</h3><div>Over the five years, 1025 probands were tested using EGP. Eighty-five probands (8%) had at least one genetic variant reclassified. A total of 252 initial VUSs were reported in the 85 probands, of which 113 (45%) VUSs were reclassified. Of 113 reclassification events, 21 (19%) were upgraded to P/LP and 92 (81%) were reclassified to B/LB. The median (interquartile range) duration between variant reinterpretations in the cohort was 12 (14.5) months. There were no significant differences in the duration between reclassification and the likelihood of reclassification of VUSs to B/LB or P/LP between the two groups (DEE versus non-DEE).</div></div><div><h3>Conclusions</h3><div>VUS reclassification over time can lead to clinically significant variant reinterpretation in patients with unknown genetic diagnoses. Periodic genomic test reinterpretation, preferably yearly, is recommended in routine clinical practice.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 101-107"},"PeriodicalIF":3.2,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Helmet Therapy for Positional Plagiocephaly: A Systematic Review of the Tools Used to Diagnose, Offer Treatment Recommendations, and Assess Treatment Outcomes of the Condition","authors":"L. Kate Lamberta DO,&nbsp;Thomas R. Murray DO,&nbsp;Alison Gehred MLIS,&nbsp;Pedro Weisleder MD, PhD","doi":"10.1016/j.pediatrneurol.2024.09.007","DOIUrl":"10.1016/j.pediatrneurol.2024.09.007","url":null,"abstract":"<div><h3>Background</h3><div>Positional plagiocephaly (PP) is an asymmetric deformation of the skull as a consequence of external forces acting on a normal and pliable skull. The prevalence of PP ranges between 19.6% and 46.6%. Treatment options for PP include repositioning, physical therapy, and helmet orthoses. Consensus regarding the treatment of PP remains elusive due to the condition's imprecise natural history, dissimilar diagnostic strategies, and unreliable data asserting treatments' efficacy. Our aim was to conduct a systematic review of the tools used to diagnose, suggest treatment strategies, and assess outcomes for PP.</div></div><div><h3>Methods</h3><div>We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to query a variety of databases. A total of 444 articles were imported into Covidence, a screening and data extraction tool for conducting systematic reviews.</div></div><div><h3>Results</h3><div>After a series of screenings, 60 articles met inclusion criteria and were reviewed in detail. The information was entered into a data extraction list consisting of 16 variables in the categories of general information, diagnostic strategies, treatment modalities, and treatment outcomes. Most articles reported retrospective case series, which yielded level 4 evidence. Only one article reported the results of a randomized and blinded outcomes assessment trial. Such article yielded level 1 evidence and was rated as high quality for allocation, concealment, and blinding of personnel.</div></div><div><h3>Conclusion</h3><div>The strategies used to diagnose and classify PP are a disparate list of measures most of which have no parallels making it impossible to offer treatment recommendations and generate generalizable knowledge.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 125-131"},"PeriodicalIF":3.2,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}