Intelligence disorder or developmental delay is the defect of cognitive function and social ad-aptation function as the main clinical features,two-thirds of the etiology is unknown. Clinical manifestations,high morbidity,and low treatment outcome are the major challenge for us. In recent years,with the application of the new generation of sequencing technology,We have gained further understanding of the etiology and pathogenesis of intelligent disorder or developmental delay. It has been found that multiple copies of chromosomal copies can lead to it. This paper summarizes the clinical,imaging and etiology of intelligent disorder or developmental de-lay,especially the recent advances in molecular genetics.

Spinal cord injuries without radiologic abnormality (SCIWORA) refers to the violence caused by spinal cord injury and radiological examination such as X-ray or CT no visible spine fracture and dislocation,abnormal findings,19％ to 34％ of children traumatic spinal cord disease.After SCIWORA occurs,there was no fever or low heat,and the progress period was short,and the disease of the spinal cord was more than normal,and the disease was less subjective.It should be identified with acute myelitis and other diseases.To improve pediatrician's understanding of SCIWORA,this review summarizes the etiology,clinical characteristics and imaging manifestations of SCIWORA in children in recent 10 years.

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Objective:To screen serum biomarkers of infantile spasm by iTRAQ technique.Methods:Fifteen cases of infants with infantile spasm and 15 cases of healthy infants were selected to find the plasma differential proteins by isobaric tag for relative and absolute quantitation(iTRAQ) technique and analysis of the biological information, then candidate proteins with significant differences were screened out.Results:Compared with the control group, 59 different proteins were obtained in the experimental group with a multiple of 1.2 times, which were involved in biological processes such as cytoskeleton organization, integrin activation and maintenance of protein location in cells.Five disease-related protein markers were selected and discussed.Conclusion:Differences in protein expression were found in plasma between infants with infantile spasm and normal controls.It may provide a new direction for the research of infant spasm.The research of cytoskeleton protein may become the breach of the infant spasm pathogenesis.New potential biomarkers, such as serine/threonine protein kinase and dopamine beta hydroxylase may provide a new direction for diagnosis and treatment of infant spasm.

To summarize the clinical and genetic features of β?propeller protein?associated neurodegeneration (BPAN). Methods The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children's Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures) were found on ictal electroencephalogram(EEG)recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age). All patients had de novo variations in WDR45 (6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977?1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.

Objective: To summarize the clinical and genetic features of β-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children’s Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results: Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.