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DOI 10.1186/1824-7288-39-74

Медицинская библиотека · Italian journal of pediatrics · 2013

Good cognitive performances in a child with Prader-Willi syndrome.

Nugnes Rosa, Zito Eugenio, Mozzillo Enza, Camarca Maria Erminia, Riccio Maria Pia, Terrone Gaetano, Melis Daniela, Bravaccio Carmela, Franzese Adriana

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Аннотация

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.

Для цитирования: Nugnes Rosa, Zito Eugenio, Mozzillo Enza, Camarca Maria Erminia, Riccio Maria Pia, Terrone Gaetano, Melis Daniela, Bravaccio Carmela, Franzese Adriana. Good cognitive performances in a child with Prader-Willi syndrome.. Italian journal of pediatrics. 2013. DOI: 10.1186/1824-7288-39-74.

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