A5101417233- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Child Development and Digital Technology
- Family and Disability Support Research
- Congenital heart defects research
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Virology and Viral Diseases
- Behavioral and Psychological Studies
- Genomics and Chromatin Dynamics
- Child Nutrition and Feeding Issues
- Advanced Neural Network Applications
- Embedded Systems Design Techniques
- Facial Nerve Paralysis Treatment and Research
- Chromatin Remodeling and Cancer
- Human Pose and Action Recognition
- Formal Methods in Verification
- Herpesvirus Infections and Treatments
- Mitochondrial Function and Pathology
- Attention Deficit Hyperactivity Disorder
- Congenital Ear and Nasal Anomalies
- RNA modifications and cancer
- Face recognition and analysis
- Down syndrome and intellectual disability research
Children's Hospital of Fudan University
2014-2025
Duke University
2014-2016
Health First
2015
Abstract Human neuroimaging studies suggest that aberrant neural connectivity underlies behavioural deficits in autism spectrum disorders (ASDs), but the molecular and circuit mechanisms underlying ASDs remain elusive. Here, we describe a complete knockout mouse model of autism-associated Shank3 gene, with deletion exons 4–22 (Δe4–22). Both mGluR5-Homer scaffolds mGluR5-mediated signalling are selectively altered striatal neurons. These changes associated perturbed function at synapses,...
To evaluate the effects of a 26-week, high-intensity, parent-implemented Early Start Denver Model (P-ESDM) intervention on developmental outcomes, severity autism spectrum disorder (ASD), and parental stress ASD toddlers in China. Subjects P-ESDM group (n = 23) were recruited from 1.5- to 2.5-year-old who screened positive Xuhui Minhang Districts diagnosed with ASD. A community (comparison) age-matched 20) was other areas. attended 1.5-hr parent coaching per week for 26 weeks, those received...
Considerable clinical heterogeneity has been well documented amongst individuals with autism spectrum disorders (ASD). However, little is known about the biological mechanisms underlying phenotypic diversity. Genetic studies have established a strong causal relationship between ASD and molecular defects in SHANK3 gene. Individuals various of display considerable heterogeneity. Different lines Shank3 mutant mice deletions different portions coding exons reported recently. Variable synaptic...
Mutations in CHD8, chromodomain helicase DNA-binding protein 8, are among the most replicated and common findings genetic studies of autism spectrum disorder (ASD). The CHD8 is believed to act as a transcriptional regulator by remodeling chromatin structure recruiting histone H1 target genes. mechanism which deficiency causes ASD has not been fully elucidated. We examined expression human mouse brains using both immunohistochemistry RNA situ hybridization. performed utero electroporation,...
Genetic alterations, together with environmental risk factors during infancy and childhood, contribute significantly to the etiology of autism spectrum disorder (ASD), a heterogeneous neurodevelopmental condition characterized by impairments in social interaction restricted, repetitive behaviors. Mounting evidence points critical contribution immunological development ASD. By affecting multiple processes, immune system dysfunction could act as point convergence between genetics Previous...
The incidence of autism spectrum disorders (ASD), a neurodevelopmental condition associated with challenges in social communication, has witnessed remarkable surge recent years, adverse effects on individuals, families, and society at large. Early screening for ensures timely access to interventions, yet lacks systematic methodical approaches objectively quantifying behaviors. In response this, we propose protocol early assistive screening, termed the Express-Needs-with-Pointing (ENP), which...
Abstract The small nuclear ribonucleoprotein polypeptide N ( SNRPN ) gene, encoding the RNA-associated SmN protein, duplications or deletions of which are strongly associated with neurodevelopmental disabilities. -coding protein is highly expressed in brain. However, role neural development remains largely unknown. Here we showed that expression increased markedly during postnatal brain development. Overexpression knockdown cortical neurons impaired neurite outgrowth, neuron migration and...
Incidence of children with autism spectrum disorder (ASD) has increased an average rate 1% worldwide. Clinical ASD screening, especially for screening is a laborious and skilled task; however, there no objective effective method automating screening. Analyzing characteristics in predefined motion behavior protocols attempted to provide automatic solutions A novel protocol, response name (RTN), proposed this article clinical validation diagnosis. The RTN jointly designed partners, gaze...
Helsmoortel-Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it also called ADNP syndrome. multitasking protein with function as transcription factor, playing critical role brain development. Furthermore, have been identified one of most common single-gene causes autism spectrum (ASD) and intellectual disability. We assembled cohort 15 Chinese pediatric patients, 13 coding region gene, evaluated...
A subgroup of children diagnosed with autism experience developmental regression featured by a loss previously acquired abilities. The pathogeny autistic is unknown, although many risk factors likely exist. To better characterize and investigate the association between potential influencing in Chinese children, we conducted an ambispective study cohort 170 subjects. Analyses multiple logistic showed significant correlations febrile seizures (OR = 3.53, 95% CI 1.17-10.65, P .025), as well...
Early identification and intervention for children with global developmental delay (GDD) can significantly improve their prognosis reduce the possibility of developing intellectual disability in future. This study aimed to explore clinical effectiveness a parent-implemented early program (PIEIP) GDD, providing research basis extended application this strategy future.During period between September 2019 August 2020, aged 3 6 months diagnosed GDD were selected from each center as experimental...
Early screening of autism spectrum disorder (ASD) is crucial since early intervention evidently confirms significant improvement functional social behavior in toddlers. This article attempts to bootstrap the response-to-instructions (RTIs) protocol with vision-based solutions order assist professional clinicians an automatic diagnosis. The correlation between detected objects and toddler's emotional features, such as gaze, constructed analyze their autistic symptoms. Twenty toddlers 16-32...
Autistic spectrum disorders (ASDs) are a family of neurodevelopmental with strong genetic components. Recent studies have shown that copy number variations in dosage sensitive genes can contribute significantly to these disorders. One such gene is the transcription factor MECP2, whose loss function females results Rett syndrome, while its duplication males developmental delay and autism. Here, we identified Chinese two brothers both inheriting 2.2 Mb MECP2-containing (151,369,305 –...
Verheij syndrome is a rare microdeletion of chromosome 8q24.3 that harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss function mutations in PUF60 have been found children with clinical features significantly overlapping Verheij. Here we present the first Chinese Han patient de novo nonsense variant (c.1357C > T, p.Gln453*) by whole exome sequencing. The 5-year-old boy presents dysmorphic facial features, intellectual disability, growth retardation but without apparent cardiac, renal,...
Most children with autism spectrum disorder (ASD) are not diagnosed until the age of 4, thus missing opportunity for early intervention. The objective this study was to investigate feasibility an screening program ASD applied during well‐child visits in a community‐based sample. lasted 4 years and divided into two stages. Stage I involved implementation basic model 2014. Toddlers received level 1 via section A Chinese‐validated version Checklist Autism (CHAT‐23) 18‐ 24‐month Xuhui District,...
Mutations in CHD8 are among the most common autism-causing genetic defects identified human genomics studies. Therefore, many labs have attempted to model this disorder by generating mice with mutations Chd8. Using a gene trap inserted after Exon 31, we created novel Chd8 mutant mouse (Chd8+/E31T ) and characterized its behavior on several different assays thought face validity for condition, attempting both core symptoms (repetitive behaviors social communication impairments) comorbidities...
SHANK3 deficiency represents one of the most replicated monogenic risk factors for autism spectrum disorder (ASD) and caused ASD presents a unique opportunity to understand underlying neuropathological mechanisms ASD. In this study, genetic tests, comprehensive clinical neurobehavioral evaluations, as well multimodal structural MRI using voxel-based morphometry (VBM) tract-based spatial statistics (TBSS) were conducted in group (N = 14 with defects), controls 26 idiopathic without defects)...
Early screening contributes to the early detection of children with autism spectrum disorder (ASD). We conducted a longitudinal ASD study in large community setting. The was designed investigate diagnostic rate and determine effectiveness model community-based sample.We enrolled who attended 18- 24-month well-child care visits Shanghai Xuhui District. Modified Checklist for Autism Toddlers, Revised Follow-up (M-CHAT-R/F) Binomial Observation Test (BOT) were selected as instruments....
Motor impairments are prevalent in children with autism spectrum disorder (ASD) and persistent across age. Our current study was designed to investigate motor deficits Chinese toddlers ASD explore the relationships between social communication skills.For this cross-sectional study, we recruited a total of 210 aged 18 36 months during December 2017 2020. Griffiths Developmental Scales-Chinese (GDS-C), Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) Communication Symbolic...
Hyper-reactivity to sensory inputs is a common and debilitating symptom of autism spectrum disorder (ASD), but the underlying neural abnormalities remain unclear. Two three patients in our clinical cohort screen harboring de novo SHANK2 mutations also exhibited high sensitivity visual, auditory, tactile stimuli, so we examined whether shank2 deficiencies contribute other ASD-like phenotypes by generating stable shank2b-deficient zebrafish model (shank2b−/−). The adult shank2b−/− demonstrated...
Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental with genetic and clinical heterogeneity. Owing to the advancement of sequencing technologies, an increasing number ASD-related genes have been reported. We designed targeted panel (TSP) for ASD based on next-generation (NGS) provide strategies testing its subgroups. Methods: TSP comprised 568 analyzed both single nucleotide variations (SNVs) copy (CNVs). The Diagnostic Observation Schedule (ADOS) Griffiths Mental Development...
There is a need to develop optimized, evidence-based parent training programs tailored for preschoolers with attention deficit hyperactivity disorder (ADHD). The objective of this study was explore behavioral management program aimed at the parents preschool children ADHD, which directly analyzes parent-child interaction from perspective system theory, and intervention effect on ADHD in children.A multicenter randomized controlled conducted using system-based group therapy 62 aged four six...