Good cognitive performances in a child with Prader-Willi syndrome

We report the case of a child affected by Prader-Willi syndrome (PWS) with good cognitive performances and without relevant behavioral abnormalities.The diagnosis of PWS, suspected on the basis of clinical features and past history, was confirmed by DNA methylation analysis. Additional genetic testi...

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Bibliographic Details
Published in:Italian journal of pediatrics 2013-11, Vol.39 (1), p.74-74, Article 74
Main Authors: Nugnes, Rosa, Zito, Eugenio, Mozzillo, Enza, Camarca, Maria Erminia, Riccio, Maria Pia, Terrone, Gaetano, Melis, Daniela, Bravaccio, Carmela, Franzese, Adriana
Format: Article
Language:English
Subjects:
Case Report
Child
Child Behavior
Child Development
Cognition - physiology
Diagnosis, Differential
Genetics, Behavioral
Humans
Intelligence - physiology
Intelligence Tests
Male
Neuropsychological Tests
Prader-Willi Syndrome - diagnosis
Prader-Willi Syndrome - genetics
Prader-Willi Syndrome - psychology
Reference Values
Risk Assessment
Severity of Illness Index
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Summary:We report the case of a child affected by Prader-Willi syndrome (PWS) with good cognitive performances and without relevant behavioral abnormalities.The diagnosis of PWS, suspected on the basis of clinical features and past history, was confirmed by DNA methylation analysis. Additional genetic testing revealed a maternal uniparental disomy. Intellectual profile was analyzed by WISC-III and Raven's Progressive Matrices CPM, while the behavior was evaluated by K-SADS-PL and Child Behavior Checklist/4-18 to the parents.WISC-III test showed a Total Intelligence Quotient (T-IQ = 79) at the border level for age. The Verbal Intelligence Quotient (V-IQ) showed a lower score than the Performance Intelligence Quotient (P-IQ) (78 and 85, respectively). Raven's Matrices CPM showed an intelligence level at 75-90° percentile for age. Concerning behavioral evaluation, a difficulty in impulse control was observed, with persistent but controllable search for food, without a clear psychopathological meaning. Also according to K-SADS-PL no areas of psychopathological dimensions were detected. In conclusion, in presence of consisting clinical features of PWS and high diagnostic suspicion, the diagnosis of PWS should be considered even in presence of a borderline IQ and in absence of psychopathological abnormalities.
ISSN:1824-7288
1720-8424
1824-7288
DOI:10.1186/1824-7288-39-74