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Participants involved: Leuven (responsible), Nijmegen, Paris, Tours.
Collaborating institutes: Lyon, Nicosia, Poznan.
Objectives
- molecular diagnosis of XLMR patients
- genetic counselling for the involved families
- dissemination of results to the (medical) community
- establishment of diagnostic services
- dissemination of results to the patients and their organizations
Methodology and study materials
Each identified MRX gene will be tested in all of the consortium material. Families in which the genetic
cause of the mental handicap has been resolved will be studied retrospectively by detailed clinical investigations
(neurobehavior) and molecular studies (mutation segregation, X-inactivation in carrier females). Results will be used
for genetic counselling in the respective families, providing them with an array of reproductive options (all partners
in this work package).
The data will be made available to the medical community and the European and national patients associations
by publications in national and international scientific journals, presentation of results in national and international
seminars, and the organization of national and international seminars and the like (all partners in this work package).
National diagnostic services will be established in a cost-effective way. Protocols for clinical and neurobehavorial
assessment will be developed in order to study the correlation of the clinical and neurobehavorial phenotype with mutation
of individual MRX genes (genotype) (all partners in this work package).The clinical evaluation of patients with XLMR/MRX
comprises a comprehensive physical examination, which includes biometry e.g. height, weight, occipito-frontal circumference,
testicular volume and when relevant other measurements.
Also, dysmorphological features are looked for systematically as well
as neurological signs and symptoms. Medical photographs are routinely taken of the face and when relevant of other parts of
the body. Neuro-cognitive and behavioural assessment is performed in a standardized way in patients with XLMR/MRX. Four domains
are explored:
- the mental level (IQ testing) and cognitive strengths and weaknesses
- the adaptive functioning in areas like communication, self care, work, health etc.
- behavioural characteristics
- specific neuropsychological skills
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