Differential Metabolites in Chinese Autistic Children: A Multi-Center Study Based on Urinary H-NMR Metabolomics Analysis.

Autism spectrum disorder (ASD) is a group of early-onset neurodevelopmental disorders. However, there is no valuable biomarker for the early diagnosis of ASD. Our large-scale and multi-center study aims to identify metabolic variations between ASD and healthy children and to investigate differential metabolites and associated pathogenic mechanisms.

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.

Background: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity.

Methods: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers.

Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.

Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enables molecular diagnostics. Here, we report four cblC type cases, which were identified by the typical manifestations, and a new approach of next-generation sequencing platform in pediatrics for genetic diseases, further confirmed by Sanger sequencing of the whole MMACHC gene.

Streptococcal infection and immune response in children with Tourette's syndrome.

Background: Streptococcal infection and basal ganglia inflammation are hypothesized to be involved in Tourette's syndrome (TS). There is a need for effective therapies for managing TS. We studied streptococcal infection and immunity in TS following immunomodulator (pidotimod) therapy.

Involvement of tryptophan hydroxylase 2 gene polymorphisms in susceptibility to tic disorder in Chinese Han population.

Background: Tryptophan hydroxylase-2 (TPH2) is a potential candidate gene for screening tic disorder (TD).

Methods: A case-control study was performed to examine the association between the TPH2 gene and TD. The Sequenom® Mass ARRAY iPLEX GOLD System was used to genotype two single nucleotide polymorphisms (SNPs) of the TPH2 gene in 149 TD children and in 125 normal controls.

[Cognitive function of 172 cases of 6 - 13 years old children with epilepsy in regular school].

Objective: To study the cognitive function, its correlation with and the impact on quality of life in epileptic children aged 6-13 years in regular school.

Method: Cognitive function of 172 children with various types of epilepsy were measured using a computerized neuropsychological test battery including six items. Their scores across the neuropsychological measures were compared with 172 healthy control subjects from the general population strictly matched for age, sex and the region where education was accepted.

Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.

Background: Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood. Around 81~95% of SMA cases are a result of homozygous deletions of survival motor neuron gene 1 (SMN1) gene or gene conversions from SMN1 to SMN2. Less than 5% of cases showed rare subtle mutations in SMN1.

[Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].

Objective: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. About 80% - 90% of SMA patients are missing both copies of SMN1, and 5% - 10% of patients are compound heterozygotes. In the present study, we aimed to analyze survival motor neuron 1 (SMN1) gene mutation in three patients with spinal muscular atrophy and their families to explore the effect of mutation on SMN protein function and the relationship between mutation and clinical phenotype.

[Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy].

Objective: To identify the point mutations in survival motor neuron gene 1 SMN1 gene and confirm the existence of compound heterozygous mutations in Chinese patients with spinal muscular atrophy (SMA).

Methods: Three unrelated patients were diagnosed and clinically typed according to the criteria of proximal SMA established by the International SMA Consortium. Multiplex ligation-dependent probe amplification (MLPA) analysis was carried out to measure the copy numbers of SMN1, SMN2 and neuronal apoptosis inhibitory protein gene (NAIP)in the patients.

[Emotional and behavioral comorbidities and the impact on the quality of life in epilepsy children].

Objective: To find out the rate of comorbidities of depression, anxiety disorder and attention deficit hyperactivity disorder (ADHD) symptoms in children with epilepsy and to analyze the relevant affecting factors and impacts on quality of life.

Method: Totally 142 children with various types of epilepsy underwent neuropsychological assessment with the Depression Self-rating Scale for Children, the Screen for Child Anxiety Related Emotional Disorders and the ADHD Rating Scale-IV, an 18-item parent-rated questionnaire based on the diagnostic criteria for ADHD, the quality of life was measured in 100 cases on antiepileptic medications by the Quality of Life in Epilepsy Inventory (QOLIE-31). The comorbidity rates were calculated using t-test, chi(2) test and multiple logistic analysis, the variables associated with psychiatric comorbidities were determined, and the impact on quality of life was analyzed.