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J Child Psychol Psychiatry. 2012 May;53(5):510-8. doi: 10.1111/j.1469-7610.2011.02478.x. Epub 2011 Nov 8.

Annual research review: impact of advances in genetics in understanding developmental psychopathology.

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Child Psychiatry Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA.


It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number variant (CNV) studies have been carried out for attention-deficit/hyperactivity disorder (ADHD), Autism, Tourette's Syndrome, and schizophrenia, with intriguing results, but environmental factors, incomplete penetrance, pleiotropy, and genetic heterogeneity, underlying any given phenotype have limited clinical translation. One promising approach may be the use of developmental brain imaging measures as more relevant phenotypes. This is particularly important, as subtle abnormalities in timing and expression of gene pathways underlying brain development may well link these disorders and be the ultimate target of treatments.

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