Literature DB >> 16400413

Apert syndrome: factors involved in the cognitive development.

Adriano Yacubian-Fernandes1, Aristides Palhares, Alcir Giglio, Roberto C Gabarra, Silvio Zanini, Luis Portela, Mateus Violin Silva, Gimol Bezaquen Perosa, Dagma Abramides, José Píndaro P Plese.   

Abstract

Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present. The objective of this study was to correlate brain malformations and timing for surgery with neuropsychological evaluation. We also tried to determine other relevant aspects involved in cognitive development of these patients such as social classification of families and parents education. Eighteen patients with Apert syndrome were studied, whose ages were between 14 and 322 months. Brain abnormalities were observed in 55.6% of them. The intelligence quotient or developmental quotient values observed were between 45 and 108. Mental development was related to the quality of family environment and parents education. Mental development was not correlated to brain malformation or age at time of operation. In conclusion, quality of family environment was the most significant factor directly involved in mental development of patients with Apert syndrome.

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Year:  2005        PMID: 16400413     DOI: 10.1590/s0004-282x2005000600011

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN: 0004-282X            Impact factor:   1.420


  9 in total

Review 1.  Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.

Authors:  Nneamaka B Agochukwu; Benjamin D Solomon; Maximilian Muenke
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

2.  Central nervous system and cervical spine abnormalities in Apert syndrome.

Authors:  Omar Breik; Antony Mahindu; Mark H Moore; Cindy J Molloy; Stephen Santoreneos; David J David
Journal:  Childs Nerv Syst       Date:  2016-02-10       Impact factor: 1.475

Review 3.  Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review.

Authors:  Charles Raybaud; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2007-09-20       Impact factor: 1.475

4.  Brain phenotypes in two FGFR2 mouse models for Apert syndrome.

Authors:  Kristina Aldridge; Cheryl A Hill; Jordan R Austin; Christopher Percival; Neus Martinez-Abadias; Thomas Neuberger; Yingli Wang; Ethylin Wang Jabs; Joan T Richtsmeier
Journal:  Dev Dyn       Date:  2010-03       Impact factor: 3.780

Review 5.  Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.

Authors:  Ai Peng Tan; Kshitij Mankad
Journal:  Childs Nerv Syst       Date:  2017-12-02       Impact factor: 1.475

6.  Health-related problems and quality of life in patients with syndromic and complex craniosynostosis.

Authors:  Tim de Jong; Marianne Maliepaard; Natalja Bannink; Hein Raat; Irene M J Mathijssen
Journal:  Childs Nerv Syst       Date:  2012-01-11       Impact factor: 1.475

7.  Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome.

Authors:  Fengtao Luo; Yangli Xie; Wei Xu; Junlan Huang; Siru Zhou; Zuqiang Wang; Xiaoqing Luo; Mi Liu; Lin Chen; Xiaolan Du
Journal:  Int J Biol Sci       Date:  2017-01-01       Impact factor: 6.580

8.  Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.

Authors:  Susan M Motch Perrine; Tim Stecko; Thomas Neuberger; Ethylin W Jabs; Timothy M Ryan; Joan T Richtsmeier
Journal:  Front Hum Neurosci       Date:  2017-07-25       Impact factor: 3.169

9.  Apert's syndrome: Study by whole exome sequencing.

Authors:  Anjana Munshi; Preeti Khetarpal; Satrupa Das; Venkateshwar Rao; Monica Valecha; Manita Bansal; Roshan Kumar
Journal:  Genes Dis       Date:  2017-08-16
  9 in total

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