Abstract
Background22q11.2 Deletion Syndrome (22qDS) is a common chromosome deletion syndrome that has been associated with severe psychopathology, including bipolar disorder and schizophrenia, in adults. Assessment of psychiatric diagnoses in children and adolescents with 22qDS is in the early stages of investigation. Methods24 children and adolescents with 22qDS established by chromosomal analysis were randomly selected from a 22qDS clinic. Children and their parents were interviewed by trained psychometricians with a standardized structured diagnostic interview. A diagnosis was considered present if DSM-IV diagnostic criteria were met on either the parent or the child interview. Results24 22qDS subjects (mean age 9.7±3.3 years) had a mean of two DSM-IV psychiatric disorders. 79% met criteria for at least one DSM-IV psychiatric disorder and over one third had three or more diagnoses. 12.5% met criteria for major depression but none had bipolar disorder. Anxiety disorders (54%), attention-deficit/hyperactivity disorder (38%), and oppositional defiant disorder (38%) were common. Although 29% reported at least one psychotic-like symptom, none met criteria for a psychotic disorder. LimitationsSmall sample size may have obscured significant associations. Other limitations included non-blinded interviewers and lack of a simultaneously studied control group. ConclusionAffective, anxiety, attentional, and behavioral disorders were relatively common in this randomly selected group of children and adolescents with 22qDS. No child met criteria for bipolar disorder or schizophrenia. Prospective, longitudinal study is needed to determine whether early psychiatric symptomatology in children with 22qDS predicts continuing or more severe psychopathology later in life. Early psychiatric screening and monitoring appears warranted in 22qDS patients.
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