Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern

Moss, Edward; Batshaw, Mark L.; Solot, Cynthia; Gerdes, Marsha; McDonald‐McGinn, Donna M.; Driscoll, Deborah A.; Emanuel, Beverly S.; Zackai, Elaine H.; Wang, Paul P.

doi:10.1016/s0022-3476(99)70415-4

Cited by 286 publications

(223 citation statements)

References 13 publications

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“…Although some reports of the school-aged population of children with 22q11.2 emphasize a nonverbal learning disability (NVLD), 18 it is important to recognized that the presence of NVLD does not preclude language deficits. In fact, the deficits in language reported here are also reported in the school-age population.…”

Section: Discussionmentioning

confidence: 99%

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Gerdes

Solot

Wang

et al. 2001

Genetics in Medicine

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Purpose: The purpose of this study is to review the neurodevelopmental outcome of infants and preschoolers with a 22q11.2 microdeletion and to discuss the our clinical observations of clinical implications for educational and therapeutic interventions. Methods: One hundred twelve children (4 to 70 mos) with the 22q11.2 deletion were assessed using standardized tests (Bayley Scales of Infant Development-II, Preschool Language Scales, WechslerPreschool and Primary Scales of Intelligence-Revised). Results: Fifty-four percent of the children were significantly delayed, 24% had mild delay, 22% had average cognitive development, and 80% were below average in language development. Delays are not explained by cardiac defects or palatal defects. Conclusion: Developmental delays, mild hypotonia, language and speech delays, and feeding disorders are common, and this finding indicates the need for early intervention services beginning in infancy for children with the 22q11.2 deletion. Genetics in Medicine, 2001:3(1):40 -44.

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Section: Discussionmentioning

confidence: 99%

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Gerdes

Solot

Wang

et al. 2001

Genetics in Medicine

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“…A range of visuo-spatial processing impairments are frequently reported in this syndrome including a deficit in visuo-perceptual and visuomotor integration skills (Moss et al, 1999;Niklasson & Gillberg, 2010;Van Aken, Caeyenberghs, Smits-Engelsman, & Swillen, 2009) as well as difficulties in visuoconstructive activities such as in puzzles or in tasks requiring the arrangement of blocks or geometric shapes (De Smedt, Swillen, Ghesquière, Devriendt, & Fryns, 2003;Moss et al, 1999;Niklasson & Gillberg, 2010). Moreover, learning disabilities are regularly observed in 22q11DS, with poorer arithmetic than reading (where mainly decoding is impaired) and writing skills (Bearden et al, 2001;De Smedt et al, 2009;Jacobson, 2010).…”

Section: Introductionmentioning

confidence: 99%

“…With regard to their mathematical abilities, all studies highlighted very poor performance in general standardized achievement for children with 22q11DS compared to typically developing children (Moss et al, 1999;Wang, Woodin, Kreps-Falk, & Moss, 2000;Woodin et al, 2001). More in-depth studies provide evidence for poorer calculation abilities compared to control participants matched on age and IQ, especially in calculation tasks requiring the deployment of calculation procedures such as addition and subtraction with a carry, and multi-digit calculations (De Smedt et al, 2009;De Smedt, Reynvoet, Swillen, Verschaffel, & Ghesquière, 2008;De Smedt et al, 2006;Simon, Bearden, Mc-Ginn, & Zackai, 2005).…”

Section: Introductionmentioning

confidence: 99%

Evidence of the impact of visuo-spatial processing on magnitude representation in 22q11.2 microdeletion syndrome

et al. 2017

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The influence of visuo-spatial skills on numerical magnitude processing is the subject of a long-standing debate. As most of the numerical and non-numerical magnitude abilities underpinning mathematical development are visual by nature, they are often assessed in the visual modality, thereby confusing visuo-spatial and numerical processing. In order to assess the influence of visuo-spatial processing on numerical magnitude representation, we examined magnitude processing in patients with 22q11.2 deletion syndrome (22q11DS), a genetic condition characterized by a cognitive profile with a relative weakness in visuo-spatial abilities but with preserved verbal abilities. Twenty-seven participants with 22q11DS were compared to two control groups (one matched on verbal intelligence and the other on visuospatial abilities) on several magnitude comparison tasks each with different visuo-spatial processing requirements. Our results showed that participants with 22q11DS present a consistent pattern of impairment in magnitude comparison tasks requiring the processing of visuo-spatial dimensions: comparison of lengths and collections. In contrast, their performance did not differ from the control groups in a visual task with no spatial processing requirement (i.e. numerical comparison of flashed dot sequences) or in auditory tasks (i.e., duration comparison and numerical comparison of sound sequences). Finally, a specific deficit of enumeration processes was observed in the subitizing range. Taken together, these results show that deficits in magnitude can occur as a consequence of a visuo-spatial deficit.

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“…Full scale IQ's are commonly in the Borderline range of functioning (IQ 70-75) [5][6][7][8][9][10][11] . Reading, spelling and phonological processing skills as well as rote auditory/verbal memory are relatively spared in VCFS 5,[11][12][13][14][15][16][17] . Conversely, math learning disabilities 5,11,12,[17][18][19][20][21][22] , visuospatial deficits 14,17,18 , attention deficits 11,19,23,24 and executive function deficits in domains such as cognitive flexibility, response inhibition and nonverbal working memory have been reported to be an area of weakness in the VCFS cognitive profile 11-13, 15-17, 19, 25-28 .…”

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confidence: 99%

Cognitive and Psychiatric Predictors to Psychosis in Velocardiofacial Syndrome: A 3-Year Follow-Up Study

Antshel

Shprintzen

Fremont

et al. 2010

Journal of the American Academy of Child & Adolescent Psych

133

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Objective-To predict prodromal psychosis in adolescents with velocardiofacial syndrome (VCFS).Method-70 youth with VCFS, 27 siblings of youth with VCFS and 25 community controls were followed from childhood (Mean age = 11.8 years) into mid-adolescence (mean age 15.0 years). Psychological tests measuring intelligence, academic achievement, learning/memory, attention and executive functioning as well as measures of parent and clinician ratings of child psychiatric functioning were completed at both time points.Results-Major depressive disorder, oppositional defiant disorder and generalized anxiety disorder diagnoses increased in the VCFS sample. With very low false positives, the best predictor of adolescent prodromal psychotic symptoms was parent ratings of childhood odd/eccentric symptoms and child performance on a measure of executive functioning, the Wisconsin Card Sorting Test.Conclusions-Similar to the non-VCFS prodromal psychosis literature, a combination of cognitive and psychiatric variables appears to predict psychosis in adolescence. A child with VCFS who screens positive is noteworthy and demands clinical attention. KeywordsVelocardiofacial syndrome (VCFS); 22q11 deletion syndrome; cognition; psychosis; longitudinal Velo-cardio-facial syndrome (VCFS) is caused by an interstitial deletion from chromosome 22 at the 22q11 band. The most common microdeletion syndrome yet identified in humans, VCFS has a population prevalence of approximately 1:2000 to 1:6000 live births 1, 2 . In most cases, VCFS is caused by a hemizygous deletion of 3 million base pairs of DNA encompassing 40 genes but approximately 8% have smaller nested deletions of 1.5 million base pairs spanning 34 genes 3 . Structural anomalies affect nearly every part and system of the body and may Correspondence to: Kevin Antshel, Ph.D. SUNY -Upstate Medical University Department of Psychiatry and Behavioral Sciences, 750 East Adams Street, Syracuse, NY 13210; AntshelK@upstate.edu. Disclosure: Dr. Faraone, in the past year, has received consulting fees and has been on Advisory Boards for Eli Lilly, Ortho-McNeil, and Shire Development, and has received research support from Eli Lilly, Pfizer, Shire and the National Institutes of Health. In previous years, Dr. Faraone has received consulting fees or has been on advisory boards, or has been a speaker for the following sources: Shire, McNeil, Janssen, Novartis, Pfizer, and Eli Lilly. In previous years he has received research support from Eli Lilly, Shire, Pfizer and the National Institutes of Health. Drs. Antshel, Shprintzen, Fremont, and Kates, and Ms. Higgins report no biomedical financial interests or potential conflicts of interest.Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the prod...

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Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern

Cited by 286 publications

References 13 publications

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

Evidence of the impact of visuo-spatial processing on magnitude representation in 22q11.2 microdeletion syndrome

Cognitive and Psychiatric Predictors to Psychosis in Velocardiofacial Syndrome: A 3-Year Follow-Up Study

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