Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
American Journal of Psychiatry (Impact Factor: 13.56). 02/2014; 171(6). DOI: 10.1176/appi.ajp.2013.13070864
Source: PubMed

ABSTRACT OBJECTIVE Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. METHOD The 1,402 participants with 22q11.2 deletion syndrome, ages 6-68 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. RESULTS Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. CONCLUSIONS To the authors' knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.

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    • "Physical phenotypes include cardiovascular malformations, palatal anomalies, immune deficiency, hypocalcemia, hyperprolinemia, and dysmorphic facial features [4]. Neuropsychiatric phenotypes include attention deficit hyperactivity disorder, autism spectrum disorders, schizophrenia, mood disorders, anxiety disorders, intellectual disabilities, and epilepsy [5]. Although psychosis and epilepsy may coexist in adult patients with 22q11.2DS, "
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    ABSTRACT: In addition to causing polymalformative syndrome, 22q11.2 deletion can lead to various neuropsychiatric disorders including mental retardation, psychosis, and epilepsy. However, few reports regarding epilepsy-related psychosis in 22q11.2 deletion syndrome (22q11.2DS) exist. We describe the clinical characteristics and course of 22q11.2DS in a Japanese patient with comorbid mild mental retardation, childhood-onset localization-related epilepsy, and adult-onset, interictal schizophrenia-like psychosis. From a diagnostic viewpoint, early detection of impaired intellectual functioning and hyperprolinemia in patients with epilepsy with 22q11.2DS may be helpful in predicting the developmental timing of interictal psychosis. From a therapeutic viewpoint, special attention needs to be paid to phenytoin-induced hypocalcemia in this syndrome.
    12/2015; 3. DOI:10.1016/j.ebcr.2015.03.002
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    • "Assessment may be further hindered by learning difficulties and psychiatric illness. For example, anxiety [Fung et al., 2010; Schneider et al., 2014] may color the clinical presentation. There is a potential for physical illnesses related to structural or neurodegenerative processes to be misdiagnosed as " functional " disorders (Patient 1). "
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    ABSTRACT: Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 02/2015; 167(3). DOI:10.1002/ajmg.a.36928 · 2.05 Impact Factor
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    • "However, if one parent has a deletion, the chances of having an affected offspring is about 50%. 22qDS carriers have a significant risk of developing psychiatric illness (attention deficit hyperactivity disorder, schizophrenia, and affective disorders; Schneider et al., 2014), and have a 10-fold increased risk of Parkinsonism, and increased risks of seizures and intellectual disability. Dr. Bassett indicated that impaired expression of DGCR8 (DiGeorge syndrome critical region gene 8, regulating miRNA biogenesis) and miR185 (gene, encoding microRNA-185) within the deletion region may lead to a down-regulation of specific microRNA subsets in the prefrontal cortex and hippocampus. "
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    ABSTRACT: The 4th Schizophrenia International Research Society Conference was held in Florence, Italy, April 5–9, 2014 and this year had as its emphasis, “Fostering Collaboration in Schizophrenia Research”. Student travel awardees served as rapporteurs for each oral session, summarized the important contributions of each session and then each report was integrated into a final summary of data discussed at the entire conference by topic. It is hoped that by combining data from different presentations, patterns of interest will emerge and thus lead to new progress for the future.In addition, the following report provides an overview of the conference for those who were present, but could not participate in all sessions, and those who did not have the opportunity to attend, but who would be interested in an update on current investigations ongoing in the field of schizophrenia research.
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