Neurocognitive mechanisms and vulnerability to autism and ADHD symptoms in the 22q11.2 deletion syndrome

Hidding, E. (2015)

Doctoral Thesis

The studies described in this thesis aim to provide a better understanding of the mechanisms that result in vulnerability to autism and ADHD symptomatology in individuals with the 22q11 deletion syndrome (22q11DS). The objective of the current thesis was to investigate the association between neurocognitive functioning and severity of autism and ADHD symptomatology in individuals with 22q11DS. For this purpose intellectual functioning, executive functioning and social cognition were assessed in a sample of children and adolescents (aged 9-18.5 years) with 22q11DS. Our findings show that children and adolescents with 22q11DS present with severe impairments on various domains of neurocognitive functioning. Some of these impairments are associated with the variable expression of social behavioral problems within the syndrome, underlining the importance of monitoring the cognitive development within this population. This knowledge can be used as a starting point for the development and adjustment of preventive interventions and for treatments of children and adolescents with 22q11DS who are at risk of these developmental problems. For clinical practice and future research it is important to be aware of the role of both genetic factors and neurocognitive functioning in the presence and severity of behavioral problems in syndromes like 22q11DS.

• 22q11.2 deletion syndrome
• Plasma proline levels
• COMT
• Velo-cardio-facial syndrome
• Autism symptomatology
• ADHD symptomatology
• Neurocognitive functioning
• Social cognition
• Executive functioning
• Intellectual functioning

• All authors: Hidding, E.
• Supervisor: Swaab, H.
• Co-supervisor: Sonneville, L.M.J. de; Vorstman, J.A.S.
• Committee: Scholte, E.; Amelsvoort, T.A.M.J. van; Berckelaer-Onnes, I.A. van; Vedder, P.; Swillen, A.
• Qualification: Doctor (dr.)
• Awarding Institution: Department of Clinical Child and Adolescent Studies, Faculty of Social and Behavioural Sciences, Leiden University
• Date: 2015-06-10
• ISBN (print): 9789461696786