Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and Advisium, ‘s Heeren Loo Zorggroep, Amersfoort, The Netherlands
Julia Ruiz-Fernandez
Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and INSERM U1299, Centre Borelli UMR9010, ENS-Paris-Saclay, Université Paris Saclay, Paris, France
Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and Koraal, Maastricht, The Netherlands
Elfi Vergaelen
Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium
Nele Volbragt
Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands
Nele Soons
Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands
Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands
Annick Vogels
Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium
Erik Boot
Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; Advisium, ‘s Heeren Loo Zorggroep, Amersfoort, The Netherlands; and The Dalglish Family 22q Clinic, Toronto, Ontario, Canada
Therese van Amelsvoort
Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands
Ann Swillen
Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium
Background 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive impairments and an increased risk of psychopathology. Most of the research has been conducted in children and adolescents, although the majority of affected individuals live well into adulthood. Hence, limited data are available on functional outcomes in adults. Aims To provide more insight in cognitive and adaptive abilities, and daily life functioning (marital status, living situation and work situation) in adults with 22q11.2DS. Method This retrospective study included 250 Dutch-speaking adults (16–69 years) with 22q11.2DS from three sites in The Netherlands and Belgium. Data on full-scale IQ (FSIQ) scores (assessed with the Wechsler Adult Intelligence Scale), adaptive functioning (assessed with the Vineland Adaptive Behavior Scale II), and functional outcomes including marital status, living and work situation were systematically collected from clinical files. In addition, we examined predictors of adaptive functioning. Results The majority of individuals in our adult sample demonstrated a low level of adaptive functioning (65%). In contrast to previous findings in children and adolescents, the majority functioned at an intellectual disability level (56%). Male sex, lower FSIQ and autism spectrum disorder were predictors of lower adaptive functioning (P = 0.016, P 40 years) are needed to further investigate cognitive and adaptive trajectories and their interactions with physical and psychiatric comorbidities.
