Autistic Disorder ; epidemiology ; Child ; Child, Preschool ; Comorbidity ; trends ; Epilepsy ; epidemiology ; Female ; Humans ; Male

Autoimmune encephalitis is a recently defined heterogeneous group of disorders probably resulting from an immune reaction against neuronal antigens.The characteristic clinical features include cognitive decline,seizures and behavioral disturbances.Autoimmune encephalitis,often improved with immune-modulatory therapies,is an important cause of rapidly progressive cognitive decline and behavioral problems.The recent knowledge about the syndromes was reviewed,and the clinical manifestations,diagnosis and treatment strategy were focused.

Ketogenic diet (KD) is a high-fat,low-protein,low-carbohydrate diet that results in series of adaptive changes such as ketosis,fatty acid increasing and glycolysis depression.The mechanisms of the epilepsy correlated with the iron channel,neurotransmitter and neurocyte injury.The novel stresses the antiepileptic effects of above general changes in controlling the iron channels open or close,balancing the excitable and inhibitive neurotransmitters,increasing energy reserve,inhibiting free radical production and promoting neurocyte regeneration.

Humans typically have 22 pairs of autosomal chromosomes in cells,and a pair of sex chromosomes.Some individuals have an extra,autosomal chromosome called a small supernumerary marker chromosome (sSMC).sSMC is a structurally abnormal chromosome fragment.The fragments are too small and no-specific banding pattern to be identified by conventional banding cytogenetic analysis.Array-based comparative genomic hybridization (aCGH),fluorescence in situ hybridization (FISH) or other molecular biological methods are necessary for the diagnosis.This article summarized the karyotype,pathogenesis,and the clinical manifestations of the sSMC-related chromosome 18p abnormalities.The patients with sSMC usually presented with abnormal chromosome syndrome.Some syndromes are relative common,such as Pallister-Killian syndrome,isochromosome 18p syndrome,Cat eye syndromes or Emanuel syndrome.sSMC is considered to be the frequent cause of mental retardation.The patients have no specific symptoms.With the progress of molecular cytogenetics,more sSMC has been identified.Genetic counseling and prenatal diagnosis are important to prevent sSMC.Molecular cytogenetic techniques are necessary to the diagnosis.

Pseudohypoparathyroidism(PHP) is a rare genetic disorder.The main character is parathyroid hormone resistance,and some with typical Albright's Hereditary Osteodystrothy malformation.The wide range of PHP symptom spectrum may lead to miss or misdiagnosis.This paper reviewed and summarized the pathogenesis,manifestation and the progress on the diagnosis and treatment of PHP Ⅰ,so as to improve the diagnostic level of this disease.

Child ; Humans ; Pneumonia, Pneumococcal ; Streptococcus pneumoniae

2-Aminoadipic Acid ; analogs & derivatives ; analysis ; Aldehyde Dehydrogenase ; genetics ; Anticonvulsants ; therapeutic use ; Biomarkers ; analysis ; Brain ; pathology ; DNA Mutational Analysis ; Electroencephalography ; Epilepsy ; diagnosis ; drug therapy ; genetics ; Genetic Association Studies ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Mutation, Missense ; Prognosis ; Pyridoxine ; therapeutic use ; Seizures ; diagnosis ; drug therapy ; genetics ; Status Epilepticus ; diagnosis ; drug therapy ; genetics

Child ; Humans ; Neurology ; Pediatrics

Child ; China ; Humans ; Neurology ; trends ; Pediatrics ; trends

Epilepsy is one of the most common diseases in children.The diagnosis,classification and treatment of epilepsy are improving gradually and meet with the international standards.However,the understanding of the clinical significance of epilepsy combined with the mental and behavioral problems is not sufficient,which leads to the backlogging of the diagnosis and intervention of the co-morbidity,and further affects the long-term prognosis.The prevalence of epilepsy co-morbid with attention deficit hyperactivity disorder (ADHD) is high,which seriously affects the quality of the lives in children and their families.Timely diagnosis and standardized treatment is very important for the clinical workers to improve the long-term prognosis of these children.In this paper,the possible mechanism,the disease characteristics,the standardized diagnosis and treatment of epilepsy combined with ADHD,are briefly introduced.