Development and validation of a nomogram for predicting intellectual disability in children with cerebral palsy.

Objective: Intellectual disability (ID) is a prevalent comorbidity in children with cerebral palsy (CP), presenting significant challenges to individuals, families and society. This study aims to develop a predictive model to assess the risk of ID in children with CP.

Methods: We analyzed data from 885 children diagnosed with CP, among whom 377 had ID.

Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

Objective: Most paroxysmal kinesigenic dyskinesia (PKD) cases are hereditary, yet approximately 60% of patients remain genetically undiagnosed. We undertook the present study to uncover the genetic basis for undiagnosed PKD patients.

Methods: Whole-exome sequencing was performed for 106 PRRT2-negative PKD probands.

Efficacy of a Soft Robotic Exoskeleton to Improve Lower Limb Motor Function in Children with Spastic Cerebral Palsy: A Single-Blinded Randomized Controlled Trial.

Purpose: Soft robotic exoskeletons (SREs) are portable, lightweight assistive technology with therapeutic potential for improving lower limb motor function in children with cerebral palsy. To understand the effects of long-term SRE-assisted walking training on children with spastic cerebral palsy (SCP), we designed a study aiming to elucidate the effects of SRE-assisted walking training on lower limb motor function in this population.

Methods: In this randomized, single-blinded (outcome assessor) controlled trial, forty children diagnosed with SCP were randomized into the routine rehabilitation (RR) group (N = 20) and the SRE group (N = 20) for comparison.

Clinical study on the safety and feasibility of AiWalker-K for lower limbs exercise rehabilitation in children with cerebral palsy.

Background: Robotic-assisted gait training (RAGT) devices are effective for children with cerebral palsy (CP). Many RAGT devices have been created and put into clinical rehabilitation treatment. Therefore, we aimed to investigate the safety and feasibility of a new RAGT for children with CP.

Wybutosine hypomodification of tRNAphe activates HERVK and impairs neuronal differentiation.

We previously reported that loss of function of TYW1 led to cerebral palsy with severe intellectual disability through reduced neural proliferation. However, whether TYW1 loss affects neural differentiation is unknown. In this study, we first demonstrated that TYW1 loss blocked the formation of OHyW in tRNA and therefore affected the translation efficiency of UUU codon.

Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.

Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys.

Cerebral Palsy Heterogeneity: Clinical Characteristics and Diagnostic Significance from a Large-Sample Analysis.

Introduction: Cerebral palsy (CP) is a nonprogressive movement disorder resulting from a prenatal or perinatal brain injury that benefits from early diagnosis and intervention. The timing of early CP diagnosis remains controversial, necessitating analysis of clinical features in a substantial cohort.

Methods: We retrospectively reviewed medical records from a university hospital, focusing on children aged ≥24 months or followed up for ≥24 months and adhering to the International Classification of Diseases-10 for diagnosis and subtyping.

Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese family.

Background: Intellectual disability is a prevalent neurodevelopmental disorder, with the majority of affected children exhibiting global developmental delay before the age of 5 years. In recent years, certain children have been found to carry homozygous variations of the EEF1D gene, leading to autosomal recessive intellectual disability. However, the pathogenicity of compound heterozygous variations in this gene remains largely unknown.

[Clinical features and genetic analysis of a child with EAST/SeSAME syndrome].

Objective: To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability.

Methods: A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing.

[Analysis of CYP2U1 gene variants in a child with Hereditary spastic paraplegia type 56].

Objective: To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP).

Methods: A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA.

The ketogenic diet for Dravet syndrome: A multicenter retrospective study.

Objective: The ketogenic diet (KD) is one of the main treatments for drug-resistant epilepsy. However, there have been few multicenter reports on the use of the KD for the treatment of Dravet syndrome (DS). The aim of this study was to analyze the efficacy and safety of this approach based on a large number of multicenter cases.

[Analysis of NOVA2 gene variant in a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities].

Objective: To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB).

Methods: A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing.

An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population.

Background: Cerebral palsy (CP), the most common physical disability of childhood, is a nonprogressive movement disorder syndrome. Eighty percent of cases are considered idiopathic without a clear cause. Evidence has shown that cytokine abnormalities are widely thought to contribute to CP.

[Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency].

Objective: To explore the genetic basis for a child featuring tetrahydrobiopterin deficiency and global developmental delay.

Methods: Clinical and laboratory examinations were carried out for the child. Genomic DNA of the patient was subjected to high-throughput sequencing to identify genetic variants associated with hyperphenylalaninemia.

Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.

Adaptor-related protein complex 1 subunit sigma 2 (AP1S2) is a subunit of AP1 that is crucial for the reformation of the synaptic vesicle. Variants in AP1S2 have been reported to cause a rare neurodevelopmental disorder, Pettigrew syndrome (PGS) (OMIM: 304,340), which is characterized by walking delay, abnormal speech, mild to profound X-linked intellectual disability (XLID), and abnormal brain, and behaviors. Here, we describe a 2-year- and 5-month-old male patient who presented with global developmental delay (GDD).

Nutritional Management of Children With Neurological Impairment in China: Current Status and Future Directions.

Unlabelled: The aim of this study is to assess the awareness of Chinese physicians on gastrointestinal and nutritional management of children with neurological impairment (NI) and to assess the practical application of the European Society of Pediatric Gastroenterology, Hepatology, and Nutrition guidelines on the management of nutritional and gastrointestinal problems in children with NI in Asian countries, particularly in several major medical centers in China.

Methods: A web-based questionnaire was distributed between November 2020 and January 2021 among Chinese healthcare professionals involved in the clinical management of children with NI. Fifteen questions covering the most relevant aspects of nutritional management and gastrointestinal issues of children with NI were surveyed.

High expression of cluster of differentiation 276 indicates poor prognosis in glioma.

Background: Glioma is the central nervous system tumor with the highest incidence rate and the molecular detection of gliomas has been the focus of research. This study aimed to investigate the guiding effect of cluster of differentiation 276 (CD276) expression on the clinical prognosis of glioma.

Methods: The TCGA and CGGA databases were used to study whether CD 276 can be used as an independent prognostic factor for gliomas.

[Effect of rehabilitation treatment based on the ICF-CY Core Sets on activities of daily living in children with cerebral palsy: a prospective randomized controlled study].

Objective: To study the effect of rehabilitation treatment based on the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) Core Sets on activities of daily living in children with cerebral palsy.

Methods: The children with cerebral palsy were divided into an observation group (=63) and a control group (=59) using a random number table. The children in the observation group were evaluated using the brief ICF-CY Core Sets for children under 6 years to identify intervention targets and develop rehabilitation plans and goals, and then specific methods were selected for rehabilitation treatment.

Population Pharmacokinetics of Lithium in Young Pediatric Patients With Intellectual Disability.

Lithium is a well-established treatment for bipolar disorders and has been shown to be neuroprotective, and thus low doses might be useful for the treatment of childhood brain injury and neurological sequelae. However, pharmacokinetic (PK) data in children are limited. This study was to investigate the PKs after oral administration of low-dose lithium carbonate in young children with intellectual disability.

The Association Study of Polymorphisms With Cerebral Palsy in Chinese Population.

Cerebral palsy (CP) is a syndrome of non-progressive motor dysfunction caused by early brain development injury. Recent evidence has shown that immunological abnormalities are associated with an increased risk of CP. We recruited 782 children with CP as the case group and 770 healthy children as the control group.