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University of Gothenburg
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Mental health in 22q11deletion syndrome from childhood to adult age: a prospective longitudinal study of 90 individuals

Participants: Eva Billstedt, Christopher Gillberg, Carina Gillberg, Karl Millback & Lena Wallin.

Background: The 22q11 deletion syndrome (22Q11DS), is a fairly common genetic syndrome causing malformations and disease in a wide range of organ systems in varying degrees. The effects on the brain include cognitive impairment, behavioural problems and a high rate of neuropsychiatric as well as psychiatric disorders for example autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD), anxiety syndromes, affective disorders, and schizophrenia along with other psychotic syndromes. Despite many reports on mental health of persons with 22q11DS there have been only a few following the development over a longer time period from childhood to adult age. In 2007 psychologist Lena Niklasson from Gothenburg, Sweden published a thesis on neuropsychological and neuropsychiatric evaluations of 100 individuals with 22Q11DS. She and her collaborators performed the baseline evaluation of the individuals targeted for inclusion in this new study. The group is considered representative of all young people in western Sweden with a genetically confirmed diagnosis of 22Q11DS.

Methods: The target subjects in this study are those 90 individuals with 22Q11DS from the original group of 100 in the baseline study who will have reached the age of 18 years by the start of the study. A multidisciplinary team consisting of a psychiatrist, a psychologist and a study nurse will participate in the follow-up evaluations which will be performed in 2016-2017 when the individuals are 18-35 years of age. The study includes structured diagnostic interview, self-report and parent questionnaires, neuropsychological testing, neurological status, physical examination, genetic analysis, and emotional processing (using iMotion). Medical records will be collected and scrutinized. A subgroup of 20 participants will undergo magnetoencephalography (MEG).

Aims of the project
• Re-examine the prevalence and type of ASD, ADHD and Learning disability and compare with the baseline evaluations
• Examine the prevalence and type of psychiatric disorders
• Study the development of psychiatric symptoms (such as episodes of psychosis, depression, hypomania/mania) over time
• Study personality factors (in the individuals with IQ 70 and above)
• Reinvestigate the general intellectual/developmental ability and profile, including visuomotor and executive skills, compared to the baseline evaluation
• Study the quality of life of the individuals with 22Q11DS and any relationships with degree of cognitive impairment and psychiatric illness
• Study possible relationships between genetic factors and psychiatric symptomatology


Niklasson, L., & Gillberg, C. (2010). The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals. Res Dev Disabil, 31, 185-194.

Niklasson, L., Rasmussen, P., Oskarsdottir, S., & Gillberg C. (2009). Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Research in Developmental Disabilities, 30, 763-773.


Page Manager: Anna Spyrou|Last update: 8/24/2016

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