Autism Spectrum Disorder, Dystonia, Movement Disorders, NEDAMSS, Seizures
Conditions
Keywords
IRF2BPL, NEDAMSS, dystonia, movement disorder, seizures
Brief summary
This protocol serves as a data collection tool for individuals with variants (missense, nonsense, frameshifts) in the IRF2BPL gene (MIM 611720), which causes Neurodevelopmental Regression, Seizures, Autism and Developmental Delay (NEDAMSS, MIM 618088) and may be involved in other neurodevelopmental presentations. This information will be analyzed to develop a better understanding of the findings and progression of symptoms in individuals with variants in the IRF2BPL gene.
Detailed description
Neurodevelopmental Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS) is caused by changes in the IRF2BPL gene. Variants in the gene can also lead to other neurodevelopmental presentations. Due to the limited number of cases that have been described to date, clinicians may have a limited understanding of what types of symptoms can develop in affected individuals and at what age. The purpose of the study is to gather clinical information about progression, treatments and outcomes for patients with variants in IRF2BPL. The investigators will collect information about medical history, growth, development, treatments and the results of previous genetic tests. In some cases, the investigators may also collect tissue samples. This is a non-interventional study that will expand the current understanding of the range of health concerns that can be seen in individuals with changes in the IRF2BPL gene by collecting medical information and samples from a larger group of affected individuals.
Interventions
No interventions are planned
Sponsors
Children's Hospital Medical Center, Cincinnati
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
2 Months to 80 Years
Healthy volunteers
No
Inclusion criteria
* Living or deceased individuals with variants in the IRF2BPL gene
Exclusion criteria
* None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Questionnaire | Throughout study completion, with the assessment completed on average once per year. | The investigators will collect information regarding age at development of symptoms, age at diagnosis, method for diagnosis, specific mutations detected, additional complications with age at onset and treatment. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Genotype-phenotype correlations | Throughout study completion, with the assessment completed on average once per year. | The investigators will assess for correlations between the type of variant in the IRF2BPL gene, the location of the variant, and the clinical presentation and symptoms. |
Countries
United States
Outcome results
None listed