OBJECTIVE: To explore the genetic basis of three children with unexplained mental retardation/developmental delay. METHODS: Peripheral venous blood samples were collected for routine G-banding karyotyping analysis and chromosomal microarray analysis (CMA). Whole exome sequencing (WES) was also carried out for patient 3. RESULTS: The karyotypes of the 3 children were normal. The result of CMA analysis of patient 1 was arr[GRCh37]: 2q22/3(145 128 071-145 159 029)×1, with a 31 kb deletion, which was predicted to be a pathogenic copy number variation. The deletion has involved exons 8 to 10 of the ZEB2 gene. Patient 2 was arr[hg19]:2q22.3 (145 071 457-146 881 759)×1, with a 1.81 Mb deletion involving the ZEB2 and GTDC1 genes. Patient 3 was arr[GRCh37]: 9p23p23(11 698 261-12 106 261)×1, with a 408 kb deletion containing no disease-associated gene. WES has identified a c.2102C>A (p.Ser701*) variant in exon 8 of the ZEB2 gene, which was included in ClinVar database and rated as pathogenic, and verified by Sanger sequencing as a de novo variant. CONCLUSION For the substantial clinical and genetic heterogeneity of Mowat-Wilson-syndrome, CMA and WES are helpful to identify the etiology of children with developmental delay/mental retardation of unknown causes, particularly those with peculiar facial features and multiple congenital malformations.
Child ; DNA Copy Number Variations ; Facies ; Glycosyltransferases/genetics* ; Hirschsprung Disease ; Humans ; Intellectual Disability/genetics* ; Microcephaly/genetics*

OBJECTIVE: To explore the genotype-phenotype correlation of a patient with cardio-facio-cutaneous syndrome (CFCS) due to variant of the MAP2K1 gene. METHODS: DNA was extracted from peripheral blood samples of the infant and his parents and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The patient had typical CFCS facies and developmental delay, and was found to harbor a de novo heterozygous c.389A>G (p.Tyr130Cys) missense variant in exon 3 of the MAP2K1 gene. Based on the American college of Medical Genetics and Genomics guidelines, this variant was classified as likely pathogenic. CONCLUSION This patient has differed from previously reported cases by having no cardiac anomaly or seizures but typical facial features and skin abnormalities accompanied by growth retardation, intellectual impairment, and urinary malformation. It has therefore enriched the phenotypic spectrum of CFCS due to variants of the MAP2K1 gene.
Ectodermal Dysplasia/genetics* ; Facies ; Failure to Thrive/genetics* ; Heart Defects, Congenital ; Humans ; MAP Kinase Kinase 1/genetics* ; Mutation

OBJECTIVE: To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness. METHODS: The infant was subjected to genetic testing, and her clinical features were compared with syndromes associated with variants of the candidate gene. RESULTS: The patient has featured long fingers, long and overlapped toes, musk-like face, blepharophimosis, ptosis, and lacrimal duct anomaly. She was found to harbor a heterozygous de novo variant NM_012330.3: c.3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene. Her clinical phenotype and genotype have both conformed to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS). CONCLUSION The child was diagnosed with SBBYSS syndrome due to the c.3040C>T (p.Gln1014*) variant of the the KAT6B gene. Discovery of the unique features has expanded the phenotypic spectrum of this syndrome.
Female ; Humans ; Blepharophimosis/genetics* ; Blepharoptosis ; Genotype ; Histone Acetyltransferases ; Infant

OBJECTIVE: To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID). METHODS: Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA). RESULTS: Patient 1 was found to harbor a 190 kb deletion at 9q34.3, which encompassed most of EHMT1 (OMIM 607001), the key gene for Kleefstra syndrome (OMIM 610253). Patients 2 and 3 were siblings. CMA showed that they have shared four chromosomal copy number variations (CNVs) including a deletion at 9q34.3 which spanned 154 kb and 149 kb, respectively, and encompassed the EHMT1 and CACNA1B (OMIM 601012) genes. The remaining 3 CNVs were predicted to be with no clinical significance. CONCLUSION Microdeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.
Child ; Chromosome Deletion ; Chromosomes, Human, Pair 9 ; Craniofacial Abnormalities/genetics* ; DNA Copy Number Variations ; Developmental Disabilities/genetics* ; Heart Defects, Congenital ; Humans ; Intellectual Disability/genetics*

Objective:To explore the effect of the hospital discharge readiness plan based on deep integration of medical nursing and rehabilitation in children with cerebral palsy.Methods:From January 2020 to September 2021, 60 children with cerebral palsy and their 60 parents admitted to the Children's Rehabilitation Department of Anhui Children's Hospital were selected as the research object. The children and parents were divided into the observation group and the control group by random number table, with 30 children and 30 parents in each group. The control group was given routine nursing, and the observation group was given the hospital discharge readiness plan based on the deep integration of medical nursing and rehabilitation. On the first day of admission and the day before discharge, the effects were evaluated using the Chinese version of the Chinese version of the Readiness for Hospital Discharge Scale (RHDS) -Parent Form, the Chinese version of the Quality of Discharge Teaching Scale (QDTS) -Parent Form, the Activities of Daily Living (ADL) Rehabilitation Nursing Rating Scale for Children with Cerebral Palsy.Results:After the intervention, the scores of the observation group were higher than those of the control group in terms of readiness for hospital discharge, quality of discharge teaching, and the differences were statistically significant ( P<0.05) . Conclusions:The hospital discharge readiness plan based on deep integration of medical nursing and rehabilitation in children with cerebral palsy can effectively improve their discharge readiness, the quality of discharge teaching and the ADL of children with cerebral palsy.

Objective:To evaluate the value of shear wave elastography (SWE) and salivary gland ultrasound scoring(SGUS) system in the diagnosis of salivary glands lesions in patients with Sj?gren′s syndrome(SS) and to compare the diagnostic efficiency of the two methods.Methods:From June 2019 to November 2020, Fifty-eight patients with suspected SS were selected from the Affiliated Changzhou No.2 People′s Hospital of Nanjing Medical University. According to the 2002 American-European Consensus Group classification standard, the enrolled patients were divided into two groups: SS group (47 cases) and non-SS group(11 cases). According to symptom duration, SS group was divided into the ≤5 years group (29 cases) and the >5 years group (18 cases). Meanwhile, 40 healthy volunteers were enrolled in this study as normal control group. The diagnostic value of salivary gland ultrasound scoring system and Young′s modulus in SS were analyzed.Results:The differences in Young′s modulus of parotid gland and submandibular gland between SS group and non-SS group (or control group) were statistically significant (all P<0.05). The ultrasound score of SS group was significantly higher than that of non-SS group and control group (all P<0.05). SGUS and Young′s modulus were not significantly different between different course groups (all P>0.05). The areas under ROC curve of the mean Young′s value in parotid and submandibular gland and the SGUS were 0.801, 0.829 and 0.676, respectively. The comparison of the area under the curve between the Young′s modulus of the parotid and submandibular glands and the ultrasound score was statistically significant (all P<0.05). Conclusions:SWE and Ultrasonography scoring system have certain value in the diagnosis of salivary gland lesions in SS, and can provide important reference information for clinical diagnosis from different perspectives. The diagnostic efficiency of SWE for salivary glands lesions in patients with SS is better than that of SGUS scoring system.

OBJECTIVE: To explore the genetic basis for a child with febrile seizures. METHODS: Peripheral venous blood samples were taken from the child and his parents for the analysis of chromosomal karyotype and dynamic variant of the FMR1 gene. The family trio was also subjected to target capture and next generation sequencing (NGS) with a gene panel related to developmental retardation, mental retardation, language retardation, epilepsy and special facial features. RESULTS: The child was found to have a normal karyotype by conventional cytogenetic analysis (400 bands). No abnormal expansion was found with the CGG repeats of the FMR1 gene. NGS revealed that the child has carried a heterozygous c.864+1 delG variant of the MEF2C gene, which may lead to abnormal splicing and affect its protein function. The same variant was found in neither parent, suggesting that it has a de novo origin. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.864+1delG variant of MEF2C gene was predicted to be pathogenic (PVS1+PS2+PM2). CONCLUSION MEF2C, as the key gene for chromosome 5q14.3 deletion syndrome which was speculated as a cause for febrile seizures, has an autosomal dominant effect. The c.864+1delG variant of the MEF2C gene may account for the febrile seizures in this patient.
Child ; Chromosome Deletion ; Chromosome Disorders ; Epilepsy ; Fragile X Mental Retardation Protein ; Humans ; Intellectual Disability/genetics* ; Karyotyping ; MEF2 Transcription Factors/genetics*

Objective:To investigate the relationship between median sagittal corpus callosum area and neural behavior in children with autism spectrum disorder (ASD).Methods:From January 2017 to December 2018, in Anhui Provincial Children's Hospital, 38 children with ASD were selected as the study group, and 35 matched children with normal development were selected as the control group.The autism behavior checklist (ABC) scale was used to evaluate the neurological behavior of children with ASD.All children were examined by cranial MRI.The total and partition area of the corpus callosum were measured at the median sagittal position, and the difference between the two groups was analyzed, as well as the relationship between the area of the corpus callosum and the abnormal neurological behavior of ASD.Results:The total and panition area size of corpus callosum in the study group were smaller than those in the control group[area 1: (182.63±30.99)mm 2 vs.(213.82±26.01)mm 2, area 2: (54.78±10.77)mm 2 vs.(63.75±12.53)mm 2, area 3: (45.16±6.52)mm 2 vs.(54.04±10.56)mm 2, area 4: (35.82±8.05)mm 2 vs.(49.93±14.47)mm 2, area 5 (127.63±26.50)mm 2 vs.(154.32±30.18)mm 2, total area: (445.31±64.91)mm 2 vs.(533.57±60.50)mm 2], and the differences were statistically significant ( t=-4.189, -2.982, -3.230, -4.363, -3.649, -5.543, all P<0.05). The differences between the two groups were mainly concentrated in the area of the knee, the area of the isthmus and the total area of the corpus callosum.The total area of corpus callosum was negatively correlated with 5 neurobehavioral dysfunction scores of ASD.The total area of corpus callosum was significantly correlated with communication disorder and language disorder ( r=-0.439, -0.544, all P<0.01). Conclusion:There are abnormalities in the development of the corpus callosum in children with ASD.The smaller the area of the corpus callosum, the more severe the clinical abnormal behavioral symptoms is.The measurement of corpus callosum area in children with ASD can provide support for diagnosis and disease assessment.

Cerebral palsy is due to the development of the fetus or infant brain damage caused by non progressive,and the performance of continuous movement and postural abnormalities,which is one of the most common causes of disability in children.So far there is no specific treatment for cerebral palsy,mainly rehabilitation,which divided into traditional Chinese medicine rehabilitation therapy and modern western medicine rehabilitation therapy.This article reviews the research progress of traditional Chinese medicine and western medicine in the treatment of cerebral palsy.

Objective To investigate the clinical,imaging and IBA57 gene mutation features in a Chinese patient with multiple mitochondrial dysfunction syndrome,and to evaluated the effect of comprehensive rehabilitation.Methods The clinical data of 1 case of multiple mitochondrial dysfunction syndrome with IBA57 mutation in Department of Rehabilitation,Anhui Provincial Children's Hospital were analyzed."IBA57 white matter malnutrition" and "IBA57 leukodystrophy" were used as the key words,to search for papers which were included in CNKI,the knowledge service platform of Wanfang Data,and biomedical literature database (PubMed) from its establishment to February 2017.The clinical,imaging and gene mutation characteristics of children with IBA57 gene mutation were summarized.Results Children,male,four years and 8 months,for "movement disorders for nearly 4 years,repeated seizures 1 and a half years" in February 2017 hospitalized again.The boy was admitted into hospital when he was one year of age because of motor and cognitive disorder after fever,Disease was development,The skull MRI showed multiple abnormal signal in bilateral frontal occipital lobe and semi-oval center white matter.Cognitive and verbal improvement was better,and the motor function gradually improved after repeated rehabilitation in our hospital,skull MRI showed that multiple abnormalities were reduced in bilateral frontal occipital lobe and semi-oval center white matter.However,The boy presented twitch when he was three years and 2 months old.Skull MRI showed that multiple abnormal signal increased in bilateral forehead occipital lobe and semi-oval center white matter in four years and 3 months and 6 months of age.The child was diagnosed with white matter disease after multiple hospitalizations,and c.286T ＞ C (p.Tyr86 His) and c.1053 G ＞ A (p.Trp351 *) were found in the IBA57 gene through exome sequencing analysis,as the 2 mutations constituted complex heterozygous mutation.The former was inherited from the mother,and the mutation was missense mutation,so the protein structure was predicted to be harmful;the latter was inherited from the father,and the mutation was nonsense mutation,which could lead to the coding protein truncation,and this was never reported before.The child was diagnosed as multiple mitochondrial dysfunction syndrome type 3,followed by treatment with high-dose coenzyme Q10,ATP,compound vitamin B and others.While taking levetiracetam and topiramate antiepileptic,and family rehabilitation,his condition was stable.Conclusion The extensive white matter lesions presented in the child may be caused by mitochondrial disease with IBA57 gene mutation.