Neurocognitive endophenotyping: on the intersection of genetic disorders and psychiatry

Genetic factors contribute significantly to the aetiology of neuropsychiatric
disorders. These factors are multifactorial, which results in any clear
relationship between the genetic defects and the range of neuropsychiatric
outcomes.
In recent years, next generation sequencing has revolutionized the
identification of causative genetic mutations. These result in a wide and
intense range of neuropsychiatric outcomes. In animal research this has been
carefully elaborated. To translate these results into human results, it is
necessary to carry out tests in humans.
By precisely identifying the pathophysiological mechanisms of this specific
genetic defects, we're able to identify neurocognitive profiles. This may offer
clues for future research.

See also the application form in the appendix.

Cognitive testing in a structured and standardized way at a defined group of
patients with cognitive dysfunction, with a shared molecular etiology .
The intended objectives are:
- Detailed human neurocognitive profile defining for each genetic defect.
- Identification of translational neurocognitive endophenotypes between species.
- Gain insight in cognitive endophenotypes of neuropsychiatric syndromes with a
shared etiology.

See also the application form in the appendix.

Population: n = at least 60 subjects.

Measures:
- Cognitive tests:
1. parts of the CANTAB: CAmbridge Neuropsychological Test Automated Battery
(CANTAB (Owen, Downes, Sahakian, Polkey, & Robbins, 1990). This is a computer
tablet based cognitive assessment battery, which investigates attention, memory
and reaction time.
2. parts of the ADOS: Autism Diagnostic Observation Schedule (Lord et al.,
1989) is a structured and standardized psychiatric observation and examination
for assessing characteristics of autism.

- Phenotypic testing:
1.clinical interviews
a. The Vineland Adaptive Behavior Scale (VABS) (Sparrow, 1984) will be used
to determine the adaptive functioning of people with an intellectual
disability.
b. The mini Psychiatric Assessment Schedules for Adults with Developmental
Disabilities (mini PAS-ADD) (Moss S., 1997) to determine behavioral problems
and psychiatric disease in subjects with an intellectual disability by
interviewing the proxy.
2.child psychiatric examination: the participant is asked to sing, draw, play
with a doll and tea set, puzzle together with the investigator to assess the
level of functioning, motor skills, language skills and social emotional
skills.
3.questionnaires, which are completed by proxy of the participants:
a. CBCL: questions about problem behavior.
B.SCQ: questions about autistic features
c.temperament questionnaire
d. Questionnaire about socio-economic features.
e. Development questionnaire

See also the application form in the appendix.

There aren't any risks associated with participation.
The toys used for playing are approved for children and don't contain any small
parts, which can be dangerous.