Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.

With the continuous deepening of genetic research on neurodevelopmental disorders (NDDs), more patients have been identified the causal or candidate genes. However, it is still urgent needed to increase the sample size to confirm the associations between variants and clinical manifestations. We previously performed molecular inversion probe sequencing of autism spectrum disorder (ASD) candidate genes in 1543 ASD patients.

Clinical and radiological features, treatment responses and prognosis in pediatric patients with co-existing anti-N-methyl-D-aspartate receptor and myelin oligodendrocyte glycoprotein antibody-associated encephalitis: A single center study.

Objectives: To characterize the clinical and radiological features, treatment responses and outcomes of children with co-existing anti-N-methyl-D-aspartate receptor(NMDAR) and myelin oligodendrocyte glycoprotein(MOG) antibody-associated encephalitis.

Methods: Clinical manifestations, imaging features, effectiveness of treatment and outcomes of patients who were cerebral spinal fluid(CSF)-positive for NMDAR-antibody(NMDAR-ab) and seropositive for MOG-antibody(MOG-ab) were analyzed.

Results: Twelve patients including 8 females and 4 males were enrolled.

mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and is a pathogenic gene for XLID. In addition to intellectual disability, patients with gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020.

Central nervous system infection with Seoul Orthohantavirus in a child after hematopoietic stem cell transplantation: a case report.

Background: Patients with allogeneic hematopoietic stem cell transplantation (allo-HSCT) are prone to complicate viral infection. Central nervous system (CNS) involvement caused by the viruses is rare but with poor prognosis. Hantavirus, which usually cause hemorrhagic fever with renal syndrome (HFRS), and none case has been reported about these infection in allo-HSCT patients.

A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel.

Background: Heterozygous variants of KCNQ2 can cause KCNQ2 associated neurodevelopmental disorder, mainly are benign (familial) neonatal or infantile epilepsy (B(F)NE or B(F)IE) and developmental epileptic encephalopathy(DEE). Moreover, some intermediate phenotypes, including intellectual disability (ID), and myokymia are related to the gene.

Methods: We collected a non-syndromic ID male patient with a novel KCNQ2 missense variant.

Correlation Analyses of Clinical Manifestations and Variant Effects in -Related Neurodevelopmental Disorder.

functional analyses of variants have been done to disclose possible pathogenic mechanisms in -related neurodevelopmental disorder. "Complete or partial loss of function (LoF)," "dominant-negative (DN) effect" are applied to describe variant's molecular phenotypes. The study here aimed to investigate clinical presentations and variant effects associations in the disorder.

Urine Organic Acids as Metabolic Indicators for Global Developmental Delay/Intellectual Disability in Chinese Children.

The purpose of this study was to search for differential metabolites in urine organic acids, and to characterize metabolic features that can be used to identify metabolites for exploration of global developmental delay (GDD)/intellectual disability (ID) etiology and pathogenesis. We screened positive test results that could explain GDD/ID from 1,253 cases, and the major differential metabolites in 132 urine organic acids from the 1,230 cases with negative results (863 GDD cases, 367 ID cases), and 100 typically developing children (TD). Non-supervisory principal component analysis and orthogonal partial least squares discriminant analysis were used to develop models to distinguish GDD/ID from TD children, and to detect major differential metabolites.

Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort.

Background: Autism spectrum disorder (ASD), a neurodevelopmental disorder, is featured by impaired social communication and restricted and repetitive behaviors and interests. ASD and comorbid neurodevelopmental disorders (ASD-NDDs), especially epilepsy and intellectual disability (ID)/global developmental delay (GDD) are frequently presented in genetic disorders. The aim of this study was to explore the clinical and genetic profile of ASD in combination with epilepsy or ID/GDD.

Multiplex Real-Time Polymerase Chain Reaction on Sputum for the Diagnosis of Pneumonia in Children: A Retrospective Study.

Background: pneumonia (PCP) is a serious opportunistic infection in immunocompromised children. Real-time polymerase chain reaction (PCR) is widely used for the diagnosis of PCP due to its good accuracy. However, the diagnostic performance of multiplex real-time PCR on sputum in children with PCP has never been explored.

[Recurrence factors for myelin oligodendrocyte glycoprotein antibody disease in children and the effect of recurrence prevention regimens].

Objective: To study the clinical features and recurrence factors of myelin oligodendrocyte glycoprotein (MOG) antibody disease in children and the effect of recurrence prevention regimens.

Methods: A retrospective analysis was performed on the medical data of 41 children with MOG antibody disease who were hospitalized in the Department of Pediatric Neurology, Xiangya Hospital of Central South University, from December 2014 to September 2020. According to the presence or absence of recurrence, they were divided into a monophasic course group (=19) and a recurrence group (=22).

Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.

Background: SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent years.

Methods: In the study, we reported two male patients with familial SYN1 variants related neurodevelopmental disorders from Asian population.

De novo variants of DEAF1 cause intellectual disability in six Chinese patients.

Background: It has been reported that de novo heterozygous variants of DEAF1 can cause DEAF1-associated neurodevelopmental disorder. The purpose of this article is to explore the clinical and genetic characteristics of Chinese patients harboring de novo DEAF1 variants.

Methods: We assembled a cohort of six unrelated patients with de novo variants in DEAF1.

[A school-aged boy with nephrotic syndrome with cough for one month and shortness of breath for half a month].

A boy, aged 6 years and 11 months, was admitted due to nephrotic syndrome for 2 years, cough for 1 month, and shortness of breath for 15 days. The boy had a history of treatment with hormone and immunosuppressant. Chest CT after the onset of cough and shortness of breath showed diffuse ground-glass opacities in both lungs.

Etiology of Non-Traumatic Seizures in Children Admitted to PICU: An Eight-Year Retrospective Study.

Purpose: Seizure is a serious neurological symptom in the pediatric intensive care unit (PICU), yet data on etiologies of non-traumatic childhood seizures in China are scarce. We aimed to investigate the etiological trends of seizures in children admitted to the PICU in our tertiary center.

Patients And Methods: We performed a retrospective analysis of all patients (aged 29 days to 14 years) with non-traumatic seizures, admitted to the PICU of Xiangya Hospital from 2010 to 2017.

First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.

Background: Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondrial diseases and congenital abnormalities in folate metabolism.

Case Presentation: Here we first present a Chinese male CFD patient whose seizure onset at 2 years old with convulsive status epilepticus.

The Recommendations for the Management of Chinese Children With Epilepsy During the COVID-19 Outbreak.

The coronavirus disease (COVID-19) is the most severe public health problem facing the world currently. Social distancing and avoidance of unnecessary movements are preventive strategies that are being advocated to prevent the spread of the causative virus [severe acute respiratory syndrome (SARS)-CoV2]. It is known that epileptic children need long term treatments (antiepileptic drugs and/or immunosuppressive agents) as well as close follow up due to the nature of the disease.

Clinical characteristics of acute glomerulonephritis with presentation of nephrotic syndrome at onset in children.

Background: Acute glomerulonephritis (AGN) is a common disease in children, which places a huge burden on developing countries. The prognosis of it may not always be good. However, the clinical characteristics of AGN with nephrotic syndrome (NS) at onset have not been fully clarified.

[Application of ventricular shunt for children with post-infective hydrocephalus].

To investigate the effects of ventricular shunt placement in children with post-infective hydrocephalus.
 Methods: A total of 24 cases of post-infectious hydrocephalus, who received ventricular shunt, were enrolled. Age, gender, disease progression, clinical manifestation, laboratory data, treatment, prognosis, complication, and sequela for each patient were retrospectively reviewed.

Ketogenic Diet as a Treatment for Super-Refractory Status Epilepticus in Febrile Infection-Related Epilepsy Syndrome.

Febrile infection-related epilepsy syndrome (FIRES) is a fatal epileptic encephalopathy associated with super-refractory status epilepticus (SRSE). Several treatment strategies have been proposed for this condition although the clinical outcomes are poor. Huge efforts from neurointensivists have been focused on identifying the characteristics of FIRES and treatment to reduce the mortality associated with this condition.

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Autism spectrum disorder (ASD) is frequently comorbid with other neurological disorders such as intellectual disability (ID) or global development delay (GDD) and epilepsy. The pathogenesis of ASD is complex. So far, studies have identified more than 1000 ASD risk genes.

[Treatment strategies for congenital heart disease in infants with severe pneumonia].

To observe the results of different treatment of congenital heart disease (CHD) complicated with severe pneumonia in infants.
 Methods: A total of 27 infants with CHD and severe pneumonia were admitted to the Department of Pediatrics, Xiangya Hospital from January 2014 to December 2014, of whom 18 were male and 9 were female. The average age was 2.

Synaptopathology Involved in Autism Spectrum Disorder.

Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental disorders characterized by impaired social communication, social interaction and repetitive behaviors. ASD affects 1 in 59 children, and is about 4 times more common among boys than among girls. Strong genetic components, together with environmental factors in the early stage of development, contribute to the pathogenesis of ASD.

[Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review].

A case of 3-hydroxyisobutyryl-CoA hydrolase deficiency was reported, and its clinical features, gene mutation characteristics, and diagnosis and treatment were analyzed with reference to related literature. The patient aged 1 year and 6 months had developmental regression and paroxysmal dystonia after pyrexia and diarrhea, and head MRI showed symmetrical lesions in the bilateral basal ganglia. No pathogenic mutation was found in the full-length detection of mitochondrial genome.

Effectiveness and Safety of Different Once-Daily Doses of Adrenocorticotropic Hormone for Infantile Spasms.

Introduction: Adrenocorticotropic hormone (ACTH) has been commonly used as a first-line treatment for infantile spasms (IS), but its optimal dose and duration are still unclear. This study is the largest retrospective cohort to document the therapeutic efficacy and tolerability for three gradient doses of ACTH in IU/kg/day units in Chinese patients.

Objective: The aim of our study was to elucidate the effectiveness and safety of three different low doses and duration of ACTH treatment for IS in China.

[Fever, generalized pain, and multiple pulmonary nodules in a school-aged boy].

A 9-year-old boy was admitted to Xiangya Hospital due to pain after trauma in the left lower limb for 5 days and fever with generalized pain for 2 days. The results of X-ray of the left lower limb were normal. Pulmonary computed tomography (CT) showed multiple pulmonary nodules in both lungs.