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Would genetic testing improve the diagnosis and treatment of patients with a neurodevelopmental psychiatric disorder?

Pilot project for the implementation of a screening tool to improve the prevention, diagnosis, and treatment of patients with a neurodevelopmental psychiatric disorder: using the 22q11.2 deletion syndrome (22q11.2DS) as a model

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ISRCTN
Registry ID
ISRCTN28813846
Enrollment
2000
Registered
2026-06-19
Start date
2024-06-01
Completion date
Unknown
Last updated
2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Schizophrenia spectrum (SCZ) and other psychotic disorders, autism spectrum disorders (ASD), bipolar disorder type I (BD), attention deficit hyperactivity disorder (ADHD) Mental and Behavioural Disorders

Interventions

Spanish national cross-sectional study design to achieve a sample of 2000 participants. From this, a subsample will be selected for deeper analyses. The sample size has been calculated according to th
*Family history of medical and psychiatric conditions
*IQ (present and past if available), full scale, verbal and performance
*Present, and past if any, psychiatric disorders
*Past and present psychiatric and medical dru

Sponsors

Instituto de Salud Carlos III
Lead Sponsor

Eligibility

Sex/Gender
All
Age
5 Years to 70 Years

Inclusion criteria

Inclusion criteria: 1. More than 5 years old 2. Less than 70 years old 3. Male and female 4. Having a diagnosis of schizophrenia spectrum and other psychotic disorders, autism spectrum disorders, bipolar disorder type I or attention deficit hyperactivity disorder

Exclusion criteria

Exclusion criteria: 1. Severe intellectual disability 2. Genetic test for microduplications and microdeletions with a high-density array

Design outcomes

Primary

MeasureTime frame
CNV, SNP and other genetic variants measured using high density array, whole genome SNP array, whole genome methylation analysis and whole genome next generation sequencing at a single timepoint

Countries

Spain

Contacts

Public ContactElisabet Vilella
vilellae@peremata.com+34 (0)658513138

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Jul 3, 2026