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Incidental radiologic findings in the 22q11.2 deletion syndrome.
Schmitt, J E; Yi, J J; Roalf, D R; Loevner, L A; Ruparel, K; Whinna, D; Souders, M C; McDonald-McGinn, D M; Yodh, E; Vandekar, S; Zackai, E H; Gur, R C; Emanuel, B S; Gur, R E.
Afiliação
  • Schmitt JE; From the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Yi JJ; Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania Department of Psychiatry (J.J.Y.).
  • Roalf DR; Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Loevner LA; From the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Ruparel K; Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Whinna D; Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Souders MC; Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • McDonald-McGinn DM; Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z.,
  • Yodh E; Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Vandekar S; Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Zackai EH; Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z.,
  • Gur RC; Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Emanuel BS; Division of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z.,
  • Gur RE; Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania raquel@mail.med.upenn.edu.
AJNR Am J Neuroradiol ; 35(11): 2186-91, 2014.
Article em En | MEDLINE | ID: mdl-24948496
ABSTRACT
BACKGROUND AND

PURPOSE:

The 22q11.2 deletion syndrome is a common genetic microdeletion syndrome that results in cognitive delays and an increased risk of several psychiatric disorders, particularly schizophrenia. The current study investigates the prevalence of incidental neuroradiologic findings within this population and their relationships with psychiatric conditions. MATERIALS AND

METHODS:

Brain MR imaging from 58 individuals with 22q11.2 deletion syndrome was reviewed by board-certified radiologists by using standard clinical procedures. Intracranial incidental findings were classified into 8 categories and compared with a large typically developing cohort.

RESULTS:

The rate of incidental findings was significantly higher (P < .0001) in 22q11.2 deletion syndrome compared with typically developing individuals, driven by a high prevalence of cavum septum pellucidum (19.0%) and white matter abnormalities (10.3%). Both of these findings were associated with psychosis in 22q11.2 deletion syndrome.

CONCLUSIONS:

Cavum septum pellucidum and white matter hyperintensities are significantly more prevalent in patients with the 22q11.2 deletion syndrome and may represent biomarkers for psychosis.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Psicóticos / Encéfalo / Síndrome de DiGeorge / Substância Branca Tipo de estudo: Diagnostic_studies / Prevalence_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: AJNR Am J Neuroradiol Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Psicóticos / Encéfalo / Síndrome de DiGeorge / Substância Branca Tipo de estudo: Diagnostic_studies / Prevalence_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: AJNR Am J Neuroradiol Ano de publicação: 2014 Tipo de documento: Article