title: [Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome].
abstract: BACKGROUND
  The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22. 22q11.2DS has several presentations including Di George's syndrome, velo-cardio-facial syndrome or Shprintzen's syndrome and it is the most frequent microdeletion syndrome in the general population (prevalence estimated at 1/4000 births, de novo: 90%). The inheritance of the syndrome (10%) is autosomal dominant. Most people with 22q11.2DS are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. A small percentage of affected individuals have shorter deletions in the same region (contiguous gene deletion syndrome). The general features of 22q11.2DS vary widely (more than 180 phenotypic presentations) and the syndrome is under diagnosed. Characteristic symptoms may include congenital heart disease, defects in the palate, neuromuscular problems, velo-pharyngeal insufficiency, hypoparathyroidism, craniofacial features and problems with the immune system T-cell mediated response (caused by hypoplasia of the thymus).
  The neurocognitive phenotype of the 22q11.2DS is complex. Cognitive deficits are seen in the majority (80-100%) of individuals with 22q11DS with impairments in sustained attention, executive function, memory and visual-spatial perception. Borderline intellectual function (IQ: 70-75) is most common, mild intellectual disability (IQ: 55-75) is slightly less frequent and a small percentage of children fall into the low average intelligence range. Most children with 22q11.2DS achieve higher scores in verbal tasks than in non-verbal tasks, although this pattern of dysfunction being not universal. Brain MRI studies have shown volumetric changes in multiple cortical and subcortical regions in individuals with 22q11DS that could be related to both cognition and psychoses.
  General psychiatric features included anxiety disorders, attention deficit disorder and poor social skills (40-50%). An elevated risk of bipolar disorder and major depression occurs in adolescence and young adulthood. A strong and specific relationship exists between the presence of the 22q11.2 microdeletion and schizophrenia (30-40%). This risk is not associated with any other neurogenetic syndrome. Social cognition is impaired in 22q11.2 DS and this observation is correlated with psychotic features. So, long-term medical care is increasingly being directed towards the treatment and recognition of these symptoms.
  
  
  METHODS
  Required pharmacological treatment strategies have to be adapted to the syndrome. Moreover, cognitive remediation is a promising tool for treating neuro- and social cognitive deficits in 22q11.2DS. However, these new therapeutic strategies have to be developed to improve quality of life.
authors.affiliation: Centre de dépistage et de prise en charge des troubles psychiatriques d'origine génétique, pôle Ouest, centre hospitalier Le Vinatier, 95, boulevard Pinel, 69677 Bron cedex, France; Centre de neuroscience cognitive, UMR 5229 (CNRS et université Lyon 1), 67, boulevard Pinel, 69675 Bron cedex, France. Electronic address: caroline.demily@ch-le-vinatier.fr.
authors.forename: C
authors.initials: C
authors.lastname: Demily
authors.affiliation: Service de génétique et centre de référence des anomalies du développement, GHE, hospices civils de Lyon, 59, boulevard Pinel, 69500 Bron, France; Centre de recherche en neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, université Claude-Bernard - Lyon 1, 95, boulevard Pinel, 69500 Bron, France.
authors.forename: M
authors.initials: M
authors.lastname: Rossi
authors.affiliation: Unité de recherche de l'Office médico-pédagogique, département de psychiatrie, faculté de médecine, université de Genève, 24, rue du Général-Dufour, 1211 Genève 4, Suisse.
authors.forename: M
authors.initials: M
authors.lastname: Schneider
authors.affiliation: Service de génétique et centre de référence des anomalies du développement, GHE, hospices civils de Lyon, 59, boulevard Pinel, 69500 Bron, France; Centre de recherche en neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, université Claude-Bernard - Lyon 1, 95, boulevard Pinel, 69500 Bron, France.
authors.forename: P
authors.initials: P
authors.lastname: Edery
authors.affiliation: Université de Bourgogne, esplanade Erasme, 21078 Dijon, France.
authors.forename: A
authors.initials: A
authors.lastname: Leleu
authors.affiliation: Centre de dépistage et de prise en charge des troubles psychiatriques d'origine génétique, pôle Ouest, centre hospitalier Le Vinatier, 95, boulevard Pinel, 69677 Bron cedex, France; Pôle Est, centre hospitalier Le Vinatier, 95, boulevard Pinel, 69677 Bron cedex, France.
authors.forename: T
authors.initials: T
authors.lastname: d'Amato
authors.affiliation: Centre de neuroscience cognitive, UMR 5229 (CNRS et université Lyon 1), 67, boulevard Pinel, 69675 Bron cedex, France; SUR, centre hospitalier Le Vinatier, 95, boulevard Pinel, 69500 Bron, France.
authors.forename: N
authors.initials: N
authors.lastname: Franck
authors.affiliation: Unité de recherche de l'Office médico-pédagogique, département de psychiatrie, faculté de médecine, université de Genève, 24, rue du Général-Dufour, 1211 Genève 4, Suisse; Département de médecine génétique et développement, faculté de médecine, université de Genève Michel-Servet 1, 24, rue du Général-Dufour, 1211 Genève 4, Suisse.
authors.forename: S
authors.initials: S
authors.lastname: Eliez
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002648:Child; D003131:Combined Modality Therapy; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000523:psychology* / Q000628:therapy; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology* / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D019965:Neurocognitive Disorders / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology* / Q000628:therapy; D010641:Phenotype; D011788:Quality of Life / Q000523:psychology; D012306:Risk; D013223:Statistics as Topic; D055815:Young Adult
keywords: 22q11.2; 22q11.2 deletion syndrome; ADHD; Anomalies cytogénétiques; Chromosomal abnormalities; Cognition sociale; Cognitive remediation; DiGeorge's syndrome; Neurocognition; Psychose; Psychosis; Remédiation cognitive; Schizophrenia; Schizophrénie; Social cognition; Syndrome de DiGeorge