Neurocognitive endophenotyping: on the intersection of genetic disorders and psychiatry

Neurocognitive endophenotyping: on the intersection of genetic disorders and psychiatry - Neurocognitive endophenotyping

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON38921

Enrollment

Registered

2013-08-15

Start date

2013-12-27

Completion date

Unknown

Last updated

2024-04-29

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

Conditions

Cognitive Disorders Developmental disorders

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: -Presence of one of the following specific genetic variants - EHMT1 mutation (Kleefstra Syndrome) - KANSL1 mutation (Koolen-deVries syndrome) - ABJRD11 mutation (KBG syndrome) - 15q13 mutation ( Prader-Willi syndrome) - Trisomie 21 (syndroom van Down).;-biological age above 3 years

Exclusion criteria

Exclusion criteria: Multiple genetic defects within one subject

Design outcomes

Primary

Measure	Time frame
neurocognitive profiles	—

Secondary

Measure	Time frame
-Identification of neurocognitive markers as endophenotypes in different neuropsychiatric diseases caused by EHMT1 defects (ID, schizophrenia and autism). - Identification of cross species neurocognitive markers in EHMT1 defects	—

Countries

Netherlands

Outcome results