Details

Autor(en) / Beteiligte

• Praus, Peter
• Braun, Urs
• Bleich, Melanie
• Meyer-Lindenberg, Andreas
• Hennig, Oliver

Titel

Heterogeneous neuropsychiatric phenotypes in two adult patients with 22q11.2 deletion syndrome (DiGeorge's syndrome): a case for RDoC?

Ist Teil von

• Nervenarzt, 2022-05, Vol.93 (5), p.483

Ort / Verlag

Germany

Erscheinungsjahr

2022

Quelle

MEDLINE

Beschreibungen/Notizen

• DiGeorge's syndrome is one of the most frequent microdeletion syndromes and is associated with a high risk for neuropsychiatric disorders of intelligence, social communication and executive functioning as well as psychotic disorders. The male patient described here represents one of the rare descriptions of Tourette's syndrome on the basis of a 22q11.2 microdeletion syndrome. The following two case studies demonstrate the variety of related clinical presentations. A characterization of these patients in a clinical and scientific context by the means of Research Domain Criteria (RDoC) enables a transdiagnostic description of overlapping as well as specific neuropsychiatric functional impairments. Possibly, this dimensional characterization might also facilitate a more exact differentiation of pleiotropic associations between genotype and phenotype.