Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion

Jacobson, Clare E.; Shearer, Jo; Habel, Alex; Kane, Fallon A.; Tsakanikos, Elias; Kravariti, Eugenia

doi:10.1111/j.1365-2788.2010.01298.x

Cited by 36 publications

(43 citation statements)

References 55 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Encouraging and assisting patients with 22q11.2DS with job placements in areas in which they are most likely to succeed may help to increase employment rates, independence, and personal satisfaction. Individuals with 22q11.2DS tend to have executive functioning skill deficits, 5 but relatively strong rote memory, 26,27 and so may be well-suited to structured or repetitive tasks. Hands-on training, demonstrations, and written instructions may also help patients succeed in the workforce, as we find that many adults with 22q11.2DS are better experiential than passive, auditory learners.…”

Section: Discussionmentioning

confidence: 99%

“…Such changes in adaptive functioning skills could parallel the reported differences between the cognitive profiles of children and adults with 22q11.2DS. Performance IQ has been reported to be lower than verbal IQ in children, 26,27 but not in adolescents or adults with 22q11.2DS. 27,38 Alternatively, the higher Daily…”

Section: Original Research Articlementioning

confidence: 99%

“…Post hoc t-tests were used to assess the individual regression coefficients. Children with 22q11.2DS have been reported to have higher verbal IQ scores than performance IQ scores, 26,27 therefore we also tested verbal and performance IQ as predictors of functioning in place of overall IQ in our regression model.…”

Section: Statistical Analysesmentioning

confidence: 99%

See 2 more Smart Citations

Functional outcomes of adults with 22q11.2 deletion syndrome

Butcher

Chow

Costain

et al. 2012

Genetics in Medicine

126

View full text Add to dashboard Cite

Purpose: The 22q11.2 deletion syndrome is a common multisystem genomic disorder with congenital and later-onset manifestations, including congenital heart disease, intellectual disability, and psychiatric illness, that may affect long-term functioning. There are limited data on adult functioning in 22q11.2 deletion syndrome. methods:We used the Vineland Adaptive Behavior Scales to assess functioning in 100 adults with 22q11.2 deletion syndrome (n = 46 male; mean age = 28.8 (standard deviation = 9.7) years) where intellect ranged from average to borderline (n = 57) to mild intellectual disability (n = 43).Results: More than 75% of the subjects scored in the functional deficit range. Although personal, vocational, and financial demographics confirmed widespread functional impairment, daily living skills and employment were relative strengths. Intelligence quotient was a significant predictor (P < 0.001) of overall and domainspecific adaptive functioning skills. A diagnosis of schizophrenia was a significant predictor (P < 0.05) of overall adaptive functioning, daily living skills, and socialization scores. Notably, congenital heart disease, history of mood/anxiety disorders, sex, and age were not significant predictors of functioning.conclusion: Despite functional impairment in adulthood that is primarily mediated by cognitive and psychiatric phenotypes, relative strengths in activities of daily living and employment have important implications for services and long-term planning. These results may help to inform expectations about outcomes for patients with 22q11.2 deletion syndrome. 2012:14(10):836-843 Genet Med

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Original Research Articlementioning

confidence: 99%

See 1 more Smart Citation

Functional outcomes of adults with 22q11.2 deletion syndrome

Butcher

Chow

Costain

et al. 2012

Genetics in Medicine

126

View full text Add to dashboard Cite

show abstract

“…However, there are some replicated trends. In early childhood, some individuals may present with non-verbal learning difficulties, i.e., performance IQ significantly lower than verbal IQ (De Smedt et al 2009;Jacobson et al 2010;Swillen et al 1999). By adolescence however there are no significant differences between mean performance and mean verbal IQ (Antshel et al 2010;Green et al 2009).…”

Section: Cognitive and Behavioural Phenotype Of 22q112 Dsmentioning

confidence: 99%

“…A highly consistent finding is that arithmetic skills are a particular weakness, with reading skills significantly stronger (Bearden et al 2002;Chow et al 2006;De Smedt et al 2009;Swillen et al 1999). Rote memory appears to be an area of relative strength, given overall intellect (Jacobson et al 2010). On average, relative weaknesses in adults include the areas of social judgment, motor skills, verbal learning and executive functioning (Chow et al 2006).…”

Section: Cognitive and Behavioural Phenotype Of 22q112 Dsmentioning

confidence: 99%

Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome

2011

View full text Add to dashboard Cite

Abstract22q11.2 Deletion syndrome has become an important model for understanding the pathophysiology of neurodevelopmental conditions, particularly schizophrenia which develops in about 20-25% of individuals with a chromosome 22q11.2 microdeletion. From the initial discovery of the syndrome, associated developmental delays made it clear that changes in brain development were a key part of the expression. Once patients were followed through childhood into adult years, further neurobehavioural phenotypes became apparent, including a changing cognitive profile, anxiety disorders and seizure diathesis. The variability of expression is as wide as for the myriad physical features associated with the syndrome, with the addition of evolving phenotype over the developmental trajectory. Notably, variability appears unrelated to length of the associated deletion. Several mouse models of the deletion have been engineered and are beginning to reveal potential molecular mechanisms for the cognitive and behavioural phenotypes observable in animals. Both animal and human studies hold great promise for further discoveries relevant to neurodevelopment and associated cognitive, behavioural and psychiatric disorders.

show abstract

Are 22q11.2 distal deletions associated with math difficulties?

Carvalho

Vianna

Oliveira

et al. 2014

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Approximately 6% of school-aged children have math difficulties (MD). A neurogenetic etiology has been suggested due to the presence of MD in some genetic syndromes such as 22q11.2DS. However, the contribution of 22q11.2DS to the MD phenotype has not yet been investigated. This is the first population-based study measuring the frequency of 22q11.2DS among school children with MD. Children (1,564) were identified in the schools through a screening test for language and math. Of these children, 152 (82 with MD and 70 controls) were selected for intelligence, general neuropsychological, and math cognitive assessments and for 22q11.2 microdeletion screening using MLPA. One child in the MD group had a 22q11.2 deletion spanning the LCR22-4 to LCR22-5 interval. This child was an 11-year-old girl with subtle anomalies, normal intelligence, MD attributable to number sense deficit, and difficulties in social interactions. Only 19 patients have been reported with this deletion. Upon reviewing these reports, we were able to characterize a new syndrome, 22q11.2 DS (LCR22-4 to LCR22-5), characterized by prematurity; pre- and postnatal growth restriction; apparent hypotelorism, short/upslanting palpebral fissures; hypoplastic nasal alae; pointed chin and nose; posteriorly rotated ears; congenital heart defects; skeletal abnormalities; developmental delay, particularly compromising the speech; learning disability (including MD, in one child); intellectual disability; and behavioral problems. These results suggest that 22q11.2 DS (LCR22-4 to LCR22-5) may be one of the genetic causes of MD.

show abstract

Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion

Cited by 36 publications

References 55 publications

Functional outcomes of adults with 22q11.2 deletion syndrome

Functional outcomes of adults with 22q11.2 deletion syndrome

Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome

Are 22q11.2 distal deletions associated with math difficulties?

Contact Info

Product

Resources

About