Abstract
Zusammenfassung. Neurofibromatose Typ 1 (NF1) ist eine seltene genetische Erkrankung, die neben physischen Beeinträchtigungen maßgeblich neuropsychologische Probleme mit sich bringt. Besonders alltagsrelevant sind hierbei exekutive Dysfunktionen. Bei 30 bis 50 % aller Kinder mit NF1 kann außerdem eine komorbide Aufmerksamkeitsdefizit-/Hyperaktivitätsstörung (ADHS) diagnostiziert werden. Da exekutive Dysfunktionen als eines der Kernsymptome der ADHS gelten, wurde in der vorliegenden Studie untersucht, ob NF1-Patienten generell von exekutiven Dysfunktionen betroffen sind oder nur eine Subgruppe mit komorbider ADHS. Zudem wurde geprüft, ob sich Patienten mit reiner ADHS und Patienten mit ADHS bei NF1 in ihren exekutiven Dysfunktionen ähneln. Es zeigte sich, dass NF1-Patienten ohne ADHS in ihren exekutiven Funktionen nicht beeinträchtigt sind, eine komorbide ADHS jedoch mit exekutiven Auffälligkeiten assoziiert ist.
Abstract. In addition to having physical complications, children with neurofibromatosis type 1 (NF1) show a wide spectrum of neuropsychological deficits, mainly executive dysfunctions. Approximately 30 % to 50 % of NF1-patients are also diagnosed with a comorbid attention-deficit/hyperactivity disorder (ADHD). Since executive dysfunctions are a core component in ADHD, this study was conceived to show whether executive dysfunctions are genuinely a problem in NF1 – or just one of an ADHD subgroup. Additionally, we investigated whether executive dysfunctions in NF1 differ from those observed in pure ADHD. According to our findings, NF1-patients without ADHD do not show any executive dysfunctions; however, NF1-patients with ADHD exhibit serious impairments. These results show that executive dysfunctions are not a core deficit of NF1 but rather one of ADHD.
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