Date of Award


Document type


Degree Name

MD (Medical Doctor)

First Supervisor

Professor Kieran Murphy


Psychiatry, Morbidity, 22q11 Deletion Syndrome, Ireland



This population study examines the prevalence of psychiatric morbidity, behavioural difficulties, autistic and schizotypal features in a sample of individuals with 22q11.2DS and in their sibling controls.


Forty-five individuals with 22q11.2DS and their 27 siblings were recruited and studied. Psychiatric morbidity was assessed by using the parent Diagnostic Interview Schedule for Children (DISC-P), Kiddie SADS-Present and Lifetime Version (K-SADPL) (psychotic supplement), Comprehensive Assessment of the At Risk Mental State (CAARMS), Schedule for Clinical Assessment in Neuropsychiatry (SCAN) and the parent Conners' rating scale. Behavioural difficulties were measured by the Strengths and Difficulties Questionnaire (SDQ) and the Child Behaviour Checklist (CBCL). The Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ) were used to measure symptoms of autism. The Schizotypal Personality Questionnaire (SPQ) was used to measure for schizotypal features.


Children and adolescents with 22q11.2DS were found to have more internalising and externalising behaviour compared to their siblings; 25% of children and adolescents with 22q11.2DS had social problems within the clinical range. Individuals with (see Figure 1,2,3,4,5 & 6)

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A thesis presented for the award of MD to the Royal College of Surgeons in Ireland, 2010.