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

doi:10.1016/S0022-3476(99)70415-4

The Journal of Pediatrics

Volume 134, Issue 2, February 1999, Pages 193-198

https://doi.org/10.1016/S0022-3476(99)70415-4 Get rights and content

Abstract

Objectives: To examine the psychoeducational profile associated with the chromosome 22q11.2 microdeletion (DiGeorge/velocardiofacial syndrome). Study design: Thirty-three patients (aged 6 to 27 years) with a 22q11.2 microdeletion underwent psychoeducational testing as part of a comprehensive evaluation. Nonparametric statistics were used to compare verbal and performance IQ, academic achievement scores, and receptive versus expressive language scores. Post hoc comparisons were made of IQ subtest scores and of language versus verbal IQ. Results: Full-scale IQ ranged from the normal to the moderately retarded range. Mean verbal IQ was significantly higher than mean performance IQ. In a similar manner, mean reading and spelling scores were superior to the mean mathematics score, although achievement scores typically were in the range of verbal IQ. In addition, many children showed clinically significant language impairments, with mean language scores lower than mean verbal IQ. Conclusions: The IQ and academic profiles are reminiscent of a “nonverbal learning disability,” although achievement was not discrepant from IQ. The coincidence of language impairment with a relative strength in reading belies a unique neuropsychologic profile. Educational programming for these children must address both verbal and nonverbal deficits. (J Pediatr 1999;134:193-8)

Section snippets

METHODS

Subjects were recruited through the multidisciplinary clinic at Children’s Hospital of Philadelphia, specializing in the assessment and treatment of children with the 22q11.2 microdeletion. Their genetic diagnosis was confirmed by fluorescence in situ hybridization studies with the N25 (D22S75) molecular probe from Oncor (Gaithersburg, Md). A total of 33 patients (18 female, 15 male) underwent comprehensive psychoeducational evaluations. Their ages ranged from 6 to 27 years (mean ± SD: 10 years

RESULTS

Although the Wechsler Preschool and Primary Scales of Intelligence-Revised, the WISC-III, and the Wechsler Adult Intelligence ScaleRevised share a common design and feature many similarly named subtests, the items included in these subtests are not identical. Therefore the specific analyses reported in the following text pertain to the subset of subjects (13 female, 13 male) who received the WISC-III, unless otherwise noted. Statistical analyses on the entire group of 33 subjects were identical

DISCUSSION

The unanticipated neuropsychologic complexity associated with the 22q11.2 deletion arises from the conjunction of the subjects’ language and academic profiles. Although developmental language disorders are regarded as harbingers of later disabilities in reading and spelling,¹¹ our subjects showed essentially intact skills in these domains. This finding appears to be at odds with conventional theories holding that language and reading development both rely on a common set of “phonologic

Acknowledgements

We thank the subjects and families who participated in this study for their cooperation and contributions.

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^☆: Supported by National Institutes of Health grants P01 DC02027 and K08 HD01174.

^☆☆: Reprint requests: Edward M. Moss, PhD, Children’s Seashore House, 3405 Civic Center Blvd, Philadelphia, PA 19104-4388.

^★: 0022-3476/99/$8.00 + 0 9/21/95251

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

Abstract

Section snippets

METHODS

RESULTS

DISCUSSION

Acknowledgements

J Am Acad Child Adol Psychiatr

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

J Med Genet

Autosomal dominant “Opitz” GBBB syndrome due to a 22q11.2 deletion

Am J Med Genet

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22

J Med Genet

Congenital heart disease

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

Genet Testing

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion

J Pediatr

Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype

Am J Med Genet

Velo-cardio-facial syndrome: language and psychological profiles

J Craniofac Genet Dev Biol

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

J Med Genet

Characteristic cognitive profile in patients with a 22q11.2 deletion: verbal IQ exceeds nonverbal IQ

Am J Human Genet

Nonverbal learning disabilities: the syndrome and the model

Wechsler Preschool and Primary Scale of Intelligence-Revised

Wechsler Intelligence Scale for Children