The neurocognitive phenotype in velo‐cardio‐facial syndrome: A developmental perspective

Antshel, Kevin M.; Fremont, Wanda; Kates, Wendy R.

doi:10.1002/ddrr.7

Cited by 78 publications

(82 citation statements)

References 103 publications

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“…Although 22q11DS was initially considered a model of nonverbal learning disabilities [Fuerst et al, 1995;Swillen et al, 1999], empirical data have questioned this assumption. In contrast to nonverbal learning disabilities, the differences between verbal and nonverbal IQ in 22q11DS are on average quite small, about 6 IQ points, and profiles of better nonverbal than verbal abilities are not uncommon in patients with 22q11DS [De Smedt et al, 2007a;Simon et al, 2007;Antshel et al, 2008].…”

Section: Q11 Deletion Syndromementioning

confidence: 97%

“…Hence, their findings only apply to this subgroup of children with 22q11DS. Examinations of such a more homogenous subgroup of 22q11DS are desirable [see also Antshel et al, 2008;Murphy and Mazzocco, 2008], especially in view of the investigation of academic achievement, as educational factors, like mainstream versus special education, might have a tremendous impact on children's performance on tasks measuring curriculum-related abilities.…”

Section: Mathematical Learning Difficulties In 22q11dsmentioning

confidence: 99%

“…These cognitive characteristics have gained a lot of research attention during the last decade and the picture of a cognitive phenotype is now steadily emerging [for a review see Antshel et al, 2008]. By late adolescence and early adulthood, about one third of the patients with 22q11DS develops psychotic disorders [e.g., Murphy and Owen, 2001] and these psychiatric characteristics have been another focus of neurocognitive research in older individuals with the syndrome [e.g., Prasad et al, 2008, for a review].…”

Section: Q11 Deletion Syndromementioning

confidence: 99%

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Mathematical learning disabilities in children with 22q11.2 deletion syndrome: A review

Smedt

Swillen

Verschaffel

et al. 2009

Dev Disabil Res Revs

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Mathematical learning disabilities (MLD) occur frequently in children with specific genetic disorders, like Turner syndrome, fragile X syndrome and neurofibromatosis. This review focuses on MLD in children with chromosome 22q11.2 deletion syndrome (22q11DS). This syndrome is the most common known microdeletion syndrome with a prevalence of at least 1:4000 to 1:6000 live births. Although the clinical presentation of 22q11DS is quite variable, its major characteristics include velopharyngeal abnormalities, congenital cardiac anomalies, mild facial dysmorphism and learning difficulties. Children with 22q11DS show considerable difficulties in mathematics, despite relatively normal reading performance. While fact retrieval seems to be preserved, impairments in procedural calculation and word problem solving are particularly prominent. Children with 22q11DS also have substantial difficulties in understanding and representing numerical quantities, possibly related to poor visuospatial attention, which all might stem from their underlying abnormalities in the inferior parietal cortex. This review ends with a discussion on how research on genetic disorders might aid our understanding of MLD in general.

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Section: Q11 Deletion Syndromementioning

confidence: 97%

Section: Mathematical Learning Difficulties In 22q11dsmentioning

confidence: 99%

Section: Q11 Deletion Syndromementioning

confidence: 99%

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Mathematical learning disabilities in children with 22q11.2 deletion syndrome: A review

Smedt

Swillen

Verschaffel

et al. 2009

Dev Disabil Res Revs

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“…Apart from the somatic consequences of this deletion, the disorder is characterized by a high incidence of cognitive and psychiatric disabilities (Baker and Vorstman 2012), including notably a mild decrease in IQ (Antshel et al 2008a) and a high prevalence of psychotic symptoms (Baker and Skuse 2005) and schizophrenia (Murphy et al 1999). In this disorder, structural alterations of the brain networks are sustained by white matter alterations including a well described 11-16 % loss of volume (Simon et al 2005;Eliez et al 2000) and widespread microstructural defects (Sundram et al 2010;Barnea-Goraly et al 2003;da Silva et al 2011;Simon et al 2008) that have furthermore been associated to various cognitive deficiencies (Radoeva et al 2012;Barnea-Goraly et al 2005;Simon et al 2008) and psychiatric symptoms (Radoeva et al 2012) including schizotypal traits (Sundram et al 2010).…”

Section: Introductionmentioning

confidence: 99%

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

et al. 2014

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The clinical picture associated with 22q11.2 deletion syndrome (22q11DS) includes mild mental retardation and an increased risk of schizophrenia. While the clinical phenotype has been related to structural brain network alterations, there is only scarce information about functional connectivity in 22q11DS. However, such studies could lead to a better comprehension of the disease and reveal potential biomarkers for psychosis. A connectivity decoding approach was used to discriminate between 42 patients with 22q11DS and 41 controls using resting-state connectivity. The same method was then applied within the 22q11DS group to identify brain connectivity patterns specifically related to the presence of psychotic symptoms. An accuracy of 84 % was achieved in differentiating patients with 22q11DS from controls. The discriminative connections were widespread, but predominantly located in the bilateral frontal and right temporal lobes, and were significantly correlated to IQ. An 88 % accuracy was obtained for identification of existing psychotic symptoms within the patients group. The regions containing most discriminative connections included the anterior cingulate cortex (ACC), the left superior temporal and the right inferior frontal gyri. Functional connectivity alterations in 22q11DS affect mostly frontal and right temporal lobes and are related to the syndrome's mild mental retardation. These results also provide evidence that resting-state connectivity can potentially become a biomarker for psychosis and that ACC plays an important role in the development of psychotic symptoms.

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“…22q11.2DS is characterized by specific craniofacial features (cleft palate and velopharyngeal insufficiency, 69-100%), thymic and parathyroid defects (17-60%), mild to moderate renal anomalies (36-37%), congenital cardiovascular malformations (49-83%), and a range of cognitive and behavioral impairments (Grigorenko et al, 2010). Low average to borderline range of general cognitive functioning is one of the most consistent findings in the phenotypic presentation of 22q11.2DS (Antshel et al, 2008). Patients with duplications of the same region at 22q11.2 have been reported (de La Rochebrochard et al, 2006;Alberti et al, 2007;Yu et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Case Report Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech

Soysal¹,

Vermeesch²,

Davani³

et al. 2011

Genet. Mol. Res.

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ABSTRACT. We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications. The girl presented mild mental motor retardation, facial dysmorphism consisting of a long narrow face, widely spaced eyes, downslanting palpebral fissures, broad nasal base, short philtrum, thin upper lip, micro/retrognathia, low set and retroverted ears, microcephaly, higharched palate, hypoplastic teeth, and hypernasal speech. She had delayed psychomotor development and behavioral problems. Molecular characterization of patients differs greatly among reports and detailed molecular characterization and documentation are needed to better understand the effects of these duplications. This description of the phenotype of a patient with microduplication on 22q11.2 will contribute 2149 ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 10 (3): 2148-2154 (2011) Hypernasal speech and 22q11.2 microduplication to the growing knowledge regarding deletions and duplications of the 22q11.2 region; this is important to conclude whether 22q11.2 duplication is a microduplication syndrome or not.

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The neurocognitive phenotype in velo‐cardio‐facial syndrome: A developmental perspective

Cited by 78 publications

References 103 publications

Mathematical learning disabilities in children with 22q11.2 deletion syndrome: A review

Mathematical learning disabilities in children with 22q11.2 deletion syndrome: A review

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

Case Report Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech

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