INTRODUCTION: The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22. 22q11.2DS has several presentations including Di @entity244 , @entity2418 or @entity2418 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 @entity1 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 @entity299 , @entity4094 , velo-pharyngeal insufficiency, @entity261 , craniofacial features and problems with the immune system T-cell mediated response (caused by @entity509 of the thymus). COGNITIVE PHENOTYPE: The neurocognitive phenotype of the 22q11.2DS is complex. @entity73 are seen in the majority (80-100%) of individuals with 22q11DS with impairments in sustained attention, executive function, @entity227 . Borderline intellectual function (IQ: 70-75) is most common, mild @entity717 (IQ: 55-75) is slightly less frequent and a small percentage of @entity1 fall into the low average intelligence range. Most @entity1 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 @entity914 . PSYCHIATRIC PHENOTYPE: General @entity146 features included @entity148 , @entity71 (40-50%). An elevated risk of @entity162 and @entity308 occurs in adolescence and young adulthood. A strong and specific relationship exists between the presence of the 22q11.2 microdeletion and @entity161 (30-40%). This risk is not associated with any other @entity751 . Social cognition is impaired in 22q11.2 DS and this observation is correlated with @entity716 features. So, long-term medical care is increasingly being directed towards the treatment and recognition of these symptoms. TREATMENT: Required pharmacological treatment strategies have to be adapted to the syndrome. Moreover, cognitive remediation is a promising tool for treating neuro- and social @entity73 in 22q11.2DS. However, these new therapeutic strategies have to be developed to improve quality of life.

[Neurocognitive and XXXX management of the 22q11.2 deletion syndrome.]

@entity1 :: ('9606', 'Species') :: ['children', 'people'] @entity4094 :: ('MESH:D009468', 'Disease') :: ['defects in the palate, neuromuscular problems'] @entity227 :: ('MESH:D014786', 'Disease') :: ['memory and visual-spatial perception'] @entity162 :: ('MESH:D001714', 'Disease') :: ['bipolar disorder'] @entity308 :: ('MESH:D003866', 'Disease') :: ['major depression'] @entity146 :: ('MESH:D001523', 'Disease') :: ['psychiatric'] @entity73 :: ('MESH:D003072', 'Disease') :: ['Cognitive deficits', 'cognitive deficits'] @entity71 :: ('MESH:D001289', 'Disease') :: ['attention deficit disorder and poor social skills'] @entity914 :: ('MESH:D011618', 'Disease') :: ['psychoses'] @entity509 :: ('MESH:C538429', 'Disease') :: ['hypoplasia'] @entity261 :: ('MESH:D007011', 'Disease') :: ['hypoparathyroidism'] @entity148 :: ('MESH:D001008', 'Disease') :: ['anxiety disorders'] @entity161 :: ('MESH:D012559', 'Disease') :: ['schizophrenia'] @entity751 :: ('MESH:D013577', 'Disease') :: ['neurogenetic syndrome'] @entity244 :: ('MESH:D014899', 'Disease') :: ["George's syndrome"] @entity299 :: ('MESH:D006331', 'Disease') :: ['congenital heart disease'] @entity716 :: ('MESH:D011605', 'Disease') :: ['psychotic'] @entity717 :: ('MESH:D009069', 'Disease') :: ['intellectual disability'] @entity2418 :: ('MESH:D004062', 'Disease') :: ["Shprintzen's syndrome", 'velo-cardio-facial syndrome']
@entity146 :: (MESH:D001523,Disease) :: ['psychiatric']
