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
Schizophrenia spectrum (SCZ) and other psychotic disorders, autism spectrum disorders (ASD), bipolar disorder type I (BD), attention deficit hyperactivity disorder (ADHD)
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 the incidence of 22q11.2DS in patients with a neurodevelopmental diagnosis (1/100). We estimate that we will detect 20 22q11.2DS patients. From the whole sample, a subsample of four groups (A, B, C, and D) will be selected for deeper analyses: A: Patients with a 22q11.2DS confirmed diagnostic (expected n = 20) B: Patients with a confirmed npCNV (expected n = 60) C: Patients that do not carry any npCNV and have a high (n = 60) D: Low (n = 60) severity score on the clinical checklist The incidence of 22q11.2DS and other npCNVs is sex-independent. However, psychiatric disorders have different incidences and phenotype presentations according to sex and this will be considered through all analyses. Clinical geneticists and 22q11.2DS experts will prepare learning materials to be delivered to psychiatrists in the form of virtual seminars, case reports, and written texts. Psychiatrists already involved in genetic counseling will also participate in designing the training package. Specific emphasis will be considered for ethical aspects during the participation consent process. After explaining the project to participants and obtaining their signed informed consent, each of them will undergo a visit with the clinical team to implement the screening tool, consisting of the following: 1. Clinical checklist: *Sociodemographic data including disease age at onset; *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 drug treatments; *Neurodevelopmental problems; *Learning difficulties (specify subtypes); *Palatal abnormalities (including velopharyngeal insufficiency or nasal vomiting); *Neurological problems (motor
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
1. Severe intellectual disability 2. Genetic test for microduplications and microdeletions with a high-density array