Movement Disorders in Children, Neuro Developmental Delay, Neurogenetic Disorders
Conditions
Keywords
VPeMD, Vietnam, Whole Exome Sequencing, Pediatric movement disorders
Brief summary
This observational patient registry aims to describe the clinical phenotypes and genetic findings of Vietnamese children with movement disorders of unknown etiology. Eligible participants are children with clinically confirmed movement disorders after evaluation by pediatric neurology specialists and after exclusion of clear acquired causes. The study will collect clinical data, neurological examination findings, available laboratory and imaging results, and video recordings of abnormal movements when consent is provided. Blood samples will be collected for whole-exome sequencing and related genetic analysis. Genetic variants will be classified according to accepted clinical genetics standards and compared with the patients' clinical phenotypes. The study is expected to improve understanding of the phenotypic and genotypic spectrum of pediatric movement disorders in Vietnam, support genetic counseling, and evaluate how genetic results may influence diagnosis, follow-up, prognosis, and treatment planning.
Detailed description
Movement disorders in children represent a heterogeneous group of neurological conditions that include dystonia, chorea, ataxia, myoclonus, tremor, tics, parkinsonism, and mixed movement disorders. The underlying causes are highly diverse and include genetic, metabolic, neurodegenerative, structural, immune-mediated, and acquired disorders. However, a substantial proportion of pediatric patients remain without a definitive diagnosis after standard clinical evaluation and routine investigations. Recent advances in next-generation sequencing technologies, particularly whole-exome sequencing, have significantly improved the diagnostic yield in pediatric movement disorders and have contributed to the identification of novel disease-causing genes and genotype-phenotype correlations. Nevertheless, data regarding the clinical and genetic spectrum of pediatric movement disorders in Vietnam remain limited. The VPeMD registry is a prospective observational patient registry designed to collect standardized clinical and genetic data from Vietnamese children with movement disorders of unknown etiology. Participants will undergo detailed clinical evaluation by pediatric neurology specialists, including assessment of movement phenomenology, neurological findings, developmental history, family history, neuroimaging findings, laboratory investigations, and treatment history. Biological samples will be collected for genetic analysis, including whole-exome sequencing and additional molecular investigations when appropriate. Genetic variants will be interpreted according to internationally accepted standards and correlated with clinical manifestations. The study aims to characterize the phenotypic and genotypic spectrum of pediatric movement disorders in Vietnam, evaluate diagnostic yield of genetic testing, identify genotype-phenotype correlations, and assess the potential impact of genetic diagnosis on patient management, prognosis, genetic counseling, and future therapeutic strategies.
Interventions
DIAGNOSTIC_TESTWhole-Exome Sequencing
Whole-exome sequencing will be performed on DNA extracted from peripheral blood samples to identify genetic variants associated with pediatric movement disorders. The test is used for genetic analysis and genotype-phenotype correlation in this observational registry and is not assigned as a treatment intervention.
Sponsors
University of Medicine and Pharmacy at Ho Chi Minh City
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
Inclusion criteria
* Children younger than 18 years old. * Patients with clinically confirmed movement disorders based on direct examination and/or video review by at least two pediatric neurology specialists. * Patients with movement disorders of unknown etiology after appropriate neurological evaluation and exclusion of clear acquired causes. * Patients evaluated or treated at University Medical Center Ho Chi Minh City or Children's Hospital 1 during the study period. * Patients and/or legal guardians who provide written informed consent for study participation and genetic testing.
Exclusion criteria
* Patients with isolated or transient primary tic disorders. * Patients with a confirmed acquired cause of movement disorder. * Patients or legal guardians who decline participation or withdraw from the study. * Patients with insufficient clinical information or unavailable biological samples for genetic analysis.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Clinical Phenotypes of Pediatric Movement Disorders | At enrollment | Distribution of clinical movement disorder phenotypes among enrolled participants, including dystonia, chorea, ataxia, myoclonus, tremor, parkinsonism, stereotypies, and mixed movement disorders, based on pediatric neurology assessment and clinical records. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Diagnostic Yield of Whole-Exome Sequencing | From enrollment to return of genetic results, up to 12 months | Proportion of enrolled participants with pathogenic or likely pathogenic genetic variants identified by whole-exome sequencing and related genetic analysis. |
| Genotype-Phenotype Correlation | From enrollment to completion of clinical and genetic data analysis, up to 24 months | Correlation between identified genetic variants and clinical phenotypes of pediatric movement disorders will be assessed. Genetic findings will be obtained from WES. Clinical phenotypes will be characterized using standardized neurological assessments, including movement disorder classification, age at onset, symptom distribution, disease progression, neurological comorbidities, developmental status, and neuroimaging findings when available. The correlation between genotype and phenotype will be evaluated by comparing identified genetic variants with clinical characteristics of enrolled participants. |
| Impact of Genetic Diagnosis on Clinical Management | From return of genetic results to follow-up assessment, up to 12 months | Proportion of participants whose diagnosis, prognosis, follow-up plan, genetic counseling, or treatment strategy is changed after genetic testing results become available. |
Countries
Vietnam
Contacts
CONTACTBich Y L Nguyen, MD, MSc, PhD Candidate
CONTACTHieu L. T. Nguyen, Assoc Prof, MD, PhD
PRINCIPAL_INVESTIGATORLinh B. Y Nguyen, MD, MSc, PHD Candidate
University of Medicine and Pharmacy at Ho Chi Minh City
Outcome results
None listed