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Cognitive Variability in NF1 and TSC Monozygotic Twins

Conditions
psychological
Neurofibromatosis type 1 and tuberous sclerosis complex (NF1 and TSC)
10083624
10009841
Registration Number
NL-OMON42022
Lead Sponsor
Erasmus MC, Universitair Medisch Centrum Rotterdam
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Pending
Sex
Not specified
Target Recruitment
24
Inclusion Criteria

Participants are part of a monozygotic twin pair (which is genetically confirmed), disease genetically confirmed (either NF1 or TSC1/TSC2 mutation), oral and written informed consent by participants older than 18 years old, and oral and written informed consent by both caregivers of children below 18 years old and assent by participants between 12 and 18 years old.

Exclusion Criteria

A potential subjects of whom the twin sibling is not willing or able to participate in this study, will be excluded from participation in this study
Symptomatic brain pathology

Study & Design

Study Type
Observational non invasive
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
<p>The difference in correlation of full IQ between twin pairs with either NF1 or<br /><br>TSC and healthy twins in the population. </p><br>
Secondary Outcome Measures
NameTimeMethod
<p>Secondary outcome measures are the difference in correlation of word-reading<br /><br>ability and attention problems between twin pairs with either NF1 or TSC and<br /><br>unaffected twins in the general population.<br /><br>Tertiary outcome measures are the correlations of visuospatial judgement and<br /><br>behavioural problems in patients with NF1 and TSC.</p><br>
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