Objective:To improve the recognition of clinical phenotype and genotype of Angelman syndrome(AS).Methods:The clinical data of a child with AS in Department of Pediatric Rehabilitation, the First Affiliated Hospital of Xinxiang Medical University at May 2018 was analyzed, retrospectively.Results:One 2- year-old female child could not walk alone for more than half a year.The physical examination proved that her head circumference was small, speech was unable, gait was unstable and the toes and feet were pointed.The developmental quotient was 19 points; the motor score was 10 points and the language score was 7 points.The c. 580G>T heterozygous nonsense variation of UBE3A gene was discovered through whole exon sequencing.This mutation resulted in the termination of amino acid 194 Glu(p.Glu194Stop, 682), which was nonsense variation, making the protein lose 682 amino acids.Family verification proved that c. 580G>T was a novel variant, and both parents were wild type. Conclusion:It is obvious that the heterozygous nonsense mutation of UBE3A gene c. 580G>T is a new cause of AS.

Objective:To improve recognition of the clinical phenotype and genotype of achondroplasia(ACH).Methods:The clinical data and genetic test results of 2 children with ACH were analyzed retrospectively, and the related literature was reviewed.Results:Case 1 was a 1-year-old girl whose mother was short in stature.She was admitted to the hospital due to knee reflexes of both lower limbs for more than 9 months.Physical examination showed that her head circumference was 45 cm and she had short stature, short limbs, low muscle tension of both lower limbs, the developmental quotient was 65 scores.Bilateral ilium and hip joint lesions by X-ray were considered as ACH.According to the submitted gene results, FGFR3 gene c. 1138G >A (p.Gly380Arg) of the girl showed the heterozygous variation, and that gene of her mother showed the heterozygous variation.Case 2 was a 10-month-old girl, who was admitted to the hospital due to limb weakness for over 5 months.Physical examination showed head circumference of 46 cm, short stature, short limbs, reduced muscle tension of limbs, grade 4 muscle strength of limbs, and the developmental quotient was 41 scores.X-ray showed that both lower limbs were in accordance with ACH.The gene results suggested the heterozygous variation of FGFR3 gene c. 1138G >A (p.Gly380Arg) in the girl(a novel mutation), and a wild-type gene in her parents. Conclusions:The clinical features of achondroplasia are diverse.The bone changes and nerve development also need to be recognized and discriminated.

Objective:To explore the correlation between imaging features of children with tic disorders and their features assessed by the Yale Global Tic Severity Scale (YGTSS).Methods:A retrospective study.A total of 33 children with tic disorders treated in the Department of Child Rehabilitation, the First Affiliated Hospital of Xinxiang Medical University from January 2022 to March 2023 were included in the tic disorder group, and 10 healthy age-matched children received physical examination during the same period were included in the healthy control group.Under the functional positioning of functional magnetic resonance imaging (fMRI), the active area of children with tic disorders at varying degrees was found.In the region of interest (ROI), localization monitoring and diffusion tensor imaging (DTI) were performed, and the apparent diffusion coefficient (ADC) and fractional anisotropy (FA) were recorded.In the same ROI (bilateral thalamus, genu of internal capsule, splenium of corpus callosum, globus pallidus, caudate nucleus) of children in healthy control group, ADC and FA were recorded.Imaging data were compared between groups using the independent sample t test, and their correlation with YGTSS scores was identified by the Pearson correlation analysis. Results:There were significant differences in ADC of the left thalamus (0.869±0.077 vs.0.794±0.083, P=0.022), the right thalamus (0.853±0.055 vs.0.798±0.054, P=0.014), the left caudate nucleus (0.871±0.121 vs.0.787±0.052, P=0.003) and the right caudate nucleus (0.856±0.075 vs.0.788±0.063, P=0.010) between tic disorder group and healthy control group.No significant differences were detected in ADC of the remaining ROI between groups (all P>0.05). There were significant differences in FA of the left thalamus (0.259±0.050 vs.0.344±0.077, P=0.007), the right thalamus (0.265±0.057 vs.0.347±0.095, P=0.026) and the right caudate nucleus (0.168±0.118 vs.0.309±0.181, P=0.041) between tic disorder group and healthy control group.No significant differences were detected in ADC and FA between children with mild and moderate tic disorders (all P>0.05). ADC of the left thalamus and the right caudate nucleus were significantly correlated with YGTSS scores in children with tic disorders ( r=0.407 and 0.372, respectively; all P<0.05). FA of the right thalamus was negatively correlated with YGTSS scores in children with tic disorders ( r=-0.439, P<0.05). Conclusions:ADC of the thalamus and caudate nucleus, and FA of the right thalamus are significantly correlated with YGTSS scores of children with tic disorders.High ADC of the left thalamus and the right caudate nucleus are correlated with high YGTSS scores, indicating a severe symptom of tic disorder in children.A high FA of the right thalamus is correlated with low YGTSS scores, indicating a mild symptom of tic disorder in children.