Good cognitive performances in a child with Prader-Willi syndrome

Italian Journal of Pediatrics

Adriana Franzese³  Carmela Bravaccio³  Daniela Melis³  Gaetano Terrone³  Maria Pia Riccio¹  Maria Erminia Camarca³  Enza Mozzillo²  Eugenio Zito³  Rosa Nugnes³ 

[1] Department of Physical and Mental Health and Preventive Medicine, Second University of Naples, Naples, Italy;School of Movement Sciences (DiSiST), Parthenope University of Naples, Naples, Italy;Department of Translational Medical Sciences, Federico II University of Naples, Italy, Via Pansini, 5-80131 Naples, Italy

关键词: Intellectual quotient (IQ);    Behavior;    Cognitive profile;    Uniparental disomy (UPD);    Prader-Willi syndrome;   

Others  :  812389
DOI  :  10.1186/1824-7288-39-74

 received in 2013-09-16, accepted in 2013-11-08,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Nugnes et al.; licensee BioMed Central Ltd.

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