WAGR syndrome: Is the 'R' always justified?

Cristiano Termine, Gian Parigi, Maura Rossi, Piero Romano, Umberto Balottin

Research output: Contribution to journalArticle

Abstract

Although mild-to-moderate intellectual disability is usually considered part of WAGR syndrome (Wilms' tumour (WT), Aniridia, Genital abnormalities, and metal Retardation, due to 11p13 deletion) the neuropsychological profile of the syndrome is little reported in the literature. We report about a 12-year-old boy presenting with WAGR syndrome (WT, right complete aniridia, bilateral cryptorchidism, interstitial deletion involving band 11p13) but with no mental retardation. An in-depth clinical evaluation revealed no behavioural or social problems and the child's neuropsychological profile was found to be within the normal range for all abilities and functions investigated (with the exception of an impulsive cognitive style and some difficulties in academic skills). This case underlines the importance of in-depth neuropsychological evaluation that includes not only IQ measurement, but also examination of attention and academic skills, in order to establish the complete phenotypical profile of WAGR patients, rather than labelling them as learning disabled (i.e. mental retardation).

Original languageEnglish
Pages (from-to)69-70
Number of pages2
JournalClinical Dysmorphology
Volume16
Issue number1
DOIs
Publication statusPublished - Jan 2007

Fingerprint

WAGR Syndrome
Aniridia
Intellectual Disability
Wilms Tumor
Cryptorchidism
Aptitude
Social Problems
Reference Values
Metals
Learning

Keywords

  • Academic skills
  • Attention
  • Learning disability
  • Mental retardation
  • WAGR syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

Cite this

WAGR syndrome : Is the 'R' always justified? / Termine, Cristiano; Parigi, Gian; Rossi, Maura; Romano, Piero; Balottin, Umberto.

In: Clinical Dysmorphology, Vol. 16, No. 1, 01.2007, p. 69-70.

Research output: Contribution to journalArticle

Termine, Cristiano ; Parigi, Gian ; Rossi, Maura ; Romano, Piero ; Balottin, Umberto. / WAGR syndrome : Is the 'R' always justified?. In: Clinical Dysmorphology. 2007 ; Vol. 16, No. 1. pp. 69-70.
@article{a680bea0cc064d71999c936d8c46768b,
title = "WAGR syndrome: Is the 'R' always justified?",
abstract = "Although mild-to-moderate intellectual disability is usually considered part of WAGR syndrome (Wilms' tumour (WT), Aniridia, Genital abnormalities, and metal Retardation, due to 11p13 deletion) the neuropsychological profile of the syndrome is little reported in the literature. We report about a 12-year-old boy presenting with WAGR syndrome (WT, right complete aniridia, bilateral cryptorchidism, interstitial deletion involving band 11p13) but with no mental retardation. An in-depth clinical evaluation revealed no behavioural or social problems and the child's neuropsychological profile was found to be within the normal range for all abilities and functions investigated (with the exception of an impulsive cognitive style and some difficulties in academic skills). This case underlines the importance of in-depth neuropsychological evaluation that includes not only IQ measurement, but also examination of attention and academic skills, in order to establish the complete phenotypical profile of WAGR patients, rather than labelling them as learning disabled (i.e. mental retardation).",
keywords = "Academic skills, Attention, Learning disability, Mental retardation, WAGR syndrome",
author = "Cristiano Termine and Gian Parigi and Maura Rossi and Piero Romano and Umberto Balottin",
year = "2007",
month = "1",
doi = "10.1097/01.mcd.0000228424.12532.2b",
language = "English",
volume = "16",
pages = "69--70",
journal = "Clinical Dysmorphology",
issn = "0962-8827",
publisher = "Lippincott Williams and Wilkins",
number = "1",

}

TY - JOUR

T1 - WAGR syndrome

T2 - Is the 'R' always justified?

AU - Termine, Cristiano

AU - Parigi, Gian

AU - Rossi, Maura

AU - Romano, Piero

AU - Balottin, Umberto

PY - 2007/1

Y1 - 2007/1

N2 - Although mild-to-moderate intellectual disability is usually considered part of WAGR syndrome (Wilms' tumour (WT), Aniridia, Genital abnormalities, and metal Retardation, due to 11p13 deletion) the neuropsychological profile of the syndrome is little reported in the literature. We report about a 12-year-old boy presenting with WAGR syndrome (WT, right complete aniridia, bilateral cryptorchidism, interstitial deletion involving band 11p13) but with no mental retardation. An in-depth clinical evaluation revealed no behavioural or social problems and the child's neuropsychological profile was found to be within the normal range for all abilities and functions investigated (with the exception of an impulsive cognitive style and some difficulties in academic skills). This case underlines the importance of in-depth neuropsychological evaluation that includes not only IQ measurement, but also examination of attention and academic skills, in order to establish the complete phenotypical profile of WAGR patients, rather than labelling them as learning disabled (i.e. mental retardation).

AB - Although mild-to-moderate intellectual disability is usually considered part of WAGR syndrome (Wilms' tumour (WT), Aniridia, Genital abnormalities, and metal Retardation, due to 11p13 deletion) the neuropsychological profile of the syndrome is little reported in the literature. We report about a 12-year-old boy presenting with WAGR syndrome (WT, right complete aniridia, bilateral cryptorchidism, interstitial deletion involving band 11p13) but with no mental retardation. An in-depth clinical evaluation revealed no behavioural or social problems and the child's neuropsychological profile was found to be within the normal range for all abilities and functions investigated (with the exception of an impulsive cognitive style and some difficulties in academic skills). This case underlines the importance of in-depth neuropsychological evaluation that includes not only IQ measurement, but also examination of attention and academic skills, in order to establish the complete phenotypical profile of WAGR patients, rather than labelling them as learning disabled (i.e. mental retardation).

KW - Academic skills

KW - Attention

KW - Learning disability

KW - Mental retardation

KW - WAGR syndrome

UR - http://www.scopus.com/inward/record.url?scp=33845598925&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33845598925&partnerID=8YFLogxK

U2 - 10.1097/01.mcd.0000228424.12532.2b

DO - 10.1097/01.mcd.0000228424.12532.2b

M3 - Article

C2 - 17159522

AN - SCOPUS:33845598925

VL - 16

SP - 69

EP - 70

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

SN - 0962-8827

IS - 1

ER -