Pediatric Update: Attention-deficit hyperactivity disorder, binge eating disorder and 2q21.1-q22.2 deletion.

Attention-deficit hyperactivity disorder and binge eating disorder in a patient with 2q21.1-q22.2 deletion.

Porfirio MC, et al.

Psychiatr Genet. 2012 Apr 18.

Source: Department of Child Psychiatry Unit, ‘Tor Vergata’ University of Rome, Rome, Italy bDepartment of Child and Adolescent Psychopathology, Robert Debré Hospital, Paris, France.

Abstract
We report the case of a young male with attention-deficit hyperactivity disorder, oppositional defiant disorder, eating problems and overweight, and mild mental retardation. Karyotype analysis detected an apparently balanced translocation: t(1;2)(p34.1;q21.1) de novo. Array comparative genomic hybridization analysis defined a de-novo cryptic deletion of 2q21.1-q22.2 bands. The deletion, here first associated with this complex phenotype, encompasses several genes with a putative role in different domains of behavioral control and neurocognitive functions; their deregulated expression may influence metabolic pathways and the role of dopamine in reward, explaining the complex psychiatric phenotype and the pharmacotherapy response described in our patient.

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WORKING TOGETHER FOR STRONGER, HEALTHIER AND SMARTER CHILDREN BY EDUCATION, CLINICAL INTERVENTION, RESEARCH AND NETWORKING INFORMATION. Advancing of the future pediatric and future parenting to optimalized physical, mental and social health and well being for fetal, newborn, infant, children, adolescents and young adult

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