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 language | Italian |
|---|---|
| Pages (from-to) | 449-469 |
| Number of pages | 21 |
| Journal | Psicologia Clinica dello Sviluppo |
| Volume | 15 |
| Issue number | 2 |
| Publication status | Published - Aug 2011 |
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ASJC Scopus subject areas
- Clinical Psychology
- Developmental and Educational Psychology
Cite this
Studio su una popolazione di 57 casi di sindrome di wolf-Hirschhorn : Esiste una variabilità del profilo cognitivo nella WHS? / Cossu, Maria Cristina; Morelli, Daniela; Antonucci, Gabriella.
In: Psicologia Clinica dello Sviluppo, Vol. 15, No. 2, 08.2011, p. 449-469.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Studio su una popolazione di 57 casi di sindrome di wolf-Hirschhorn
T2 - Esiste una variabilità del profilo cognitivo nella WHS?
AU - Cossu, Maria Cristina
AU - Morelli, Daniela
AU - Antonucci, Gabriella
PY - 2011/8
Y1 - 2011/8
N2 - 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.
AB - 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.
KW - Intellectual disability
KW - Neuropsychological phenotype
KW - Psychometric assessment
KW - Wolf-Hirschhorn syndrome (WHS)
UR - http://www.scopus.com/inward/record.url?scp=84857245658&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84857245658&partnerID=8YFLogxK
M3 - Articolo
VL - 15
SP - 449
EP - 469
JO - Psicologia Clinica dello Sviluppo
JF - Psicologia Clinica dello Sviluppo
SN - 1824-078X
IS - 2
ER -