Studio su una popolazione di 57 casi di sindrome di wolf-Hirschhorn

Esiste una variabilità del profilo cognitivo nella WHS?

Translated title of the contribution: Study on a population of 57 Wolf-Hirschhorn syndrome cases: Is there a variability of cognitive profile in WHS?

Maria Cristina Cossu, Daniela Morelli, Gabriella Antonucci

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder. To determine the nature and variability of mental retardation and a possible peculiar neuropsychological phenotype, a psychometric assessment on 57 individuals, 2.6-28.6 years of age, with Wolf-Hirschhorn syndrome was conducted. This sample represents 70% of Italian known WHS population. Results obtained, through administration of Griffiths Scale for Assessment of Mental Development, show a peculiar Neuropsychological Phenotype for WHS consistently characterized by variably degrees of mental retardation. Neuropsychological Phenotype with mild impairment seems to be associate with mild clinical signs: This finding supports recent hypotheses reported in the literature of a possible mild form of WHS. Delineating a specific WHS Neuropsychological Phenotype is necessary to design an effective rehabilitation treatment aimed at this pathology.

Original languageItalian
Pages (from-to)449-469
Number of pages21
JournalPsicologia Clinica dello Sviluppo
Volume15
Issue number2
Publication statusPublished - Aug 2011

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Wolf-Hirschhorn Syndrome
Population
Phenotype
Intellectual Disability
Inborn Genetic Diseases
Psychometrics
Rehabilitation
Pathology

ASJC Scopus subject areas

  • Clinical Psychology
  • Developmental and Educational Psychology

Cite this

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title = "Studio su una popolazione di 57 casi di sindrome di wolf-Hirschhorn: Esiste una variabilit{\`a} del profilo cognitivo nella WHS?",
abstract = "Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder. To determine the nature and variability of mental retardation and a possible peculiar neuropsychological phenotype, a psychometric assessment on 57 individuals, 2.6-28.6 years of age, with Wolf-Hirschhorn syndrome was conducted. This sample represents 70{\%} of Italian known WHS population. Results obtained, through administration of Griffiths Scale for Assessment of Mental Development, show a peculiar Neuropsychological Phenotype for WHS consistently characterized by variably degrees of mental retardation. Neuropsychological Phenotype with mild impairment seems to be associate with mild clinical signs: This finding supports recent hypotheses reported in the literature of a possible mild form of WHS. Delineating a specific WHS Neuropsychological Phenotype is necessary to design an effective rehabilitation treatment aimed at this pathology.",
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