Apert syndrome: factors involved in the cognitive development

Fernandes, Adriano Yacubian; Palhares, Aristides; Giglio, Alcir; Gabarra, Roberto Colichio; Zanini, Silvio Antonio; Portela, Luis; Silva, Mateus Violin; Perosa, Gimol Bezaquen; Abramides, Dagma Venturini Marques; Plese, José Píndaro Pereira

doi:10.1590/s0004-282x2005000600011

Cited by 32 publications

(22 citation statements)

References 22 publications

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“…Cognitive effects in craniosynostosis conditions vary widely- from normal to severe- and surgery can have its own effects on long-term outcome (Blank, 1959; Lefebvre et al, 1959; Kapp-Simon et al, 1993, 2007; Renier et al, 1996; Kapp-Simon, 1998; Yacubian-Fernandes et al, 2004, 2005; Becker et al, 2005; Da Costa et al, 2006; Hashim et al, 2014; Fernandes et al, 2016), but there is currently no clear understanding of the relationship between IQ, genetics and brain malformations in these syndromes (Fernandes et al, 2016). Because the gross morphology of the brain mirrors the shape of the skull in craniosynostosis conditions, it is widely assumed that abnormal brain shape is a response to constraints on skull growth caused by premature suture closure.…”

Section: Introductionmentioning

confidence: 99%

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

Perrine

Stecko

Neuberger

et al. 2017

Front. Hum. Neurosci.

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The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept developed in vertebrate morphology and evolutionary biology, describes the coordinated variation of functionally and developmentally related traits of organisms. Syndromic craniosynostosis is characterized by distinctive changes in skull morphology and perceptible, though less well studied, changes in brain structure and morphology. Using mouse models for craniosynostosis conditions, our group has precisely defined how unique craniosynostosis causing mutations in fibroblast growth factor receptors affect brain and skull morphology and dysgenesis involving coordinated tissue-specific effects of these mutations. Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. Using linear distances estimated from three-dimensional coordinates of landmarks acquired from dual modality imaging of skull (high resolution micro-computed tomography and magnetic resonance microscopy) of mice at embryonic day 17.5, we confirm variation in brain and skull morphology in Fgfr2cC342Y/+ mice, Fgfr2+/S252W mice, and their unaffected littermates. Mutation-specific variation in neural and cranial tissue notwithstanding, patterns of integration of brain and skull differed only subtly between mice carrying either the FGFR2c C342Y or the FGFR2 S252W mutation and their unaffected littermates. However, statistically significant and substantial differences in morphological integration of brain and skull were revealed between the two mutant mouse models, each maintained on a different strain. Relative to the effects of disease-associated mutations, our results reveal a stronger influence of the background genome on patterns of brain-skull integration and suggest robust genetic, developmental, and evolutionary relationships between neural and skeletal tissues of the head.

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Section: Introductionmentioning

confidence: 99%

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

Perrine

Stecko

Neuberger

et al. 2017

Front. Hum. Neurosci.

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“…Renier et al 23 found that 32% of Apert patients presented satisfactory intelligence quotient (970), in contrast to 48% found by Patton et al 24 and 77.8% found by YacubianFernandes et al, 25 who observed that the lack of cognitive development is related to social and educational degree of the family, rather than to brain malformation and age at the time of the first operation of the craniofacial skeleton. However, others pointed out that early operation may result in better neurocognitive development.…”

Section: Discussionmentioning

confidence: 92%

Apert Syndrome

Raposo-Amaral

Raposo‐Amaral

Neto

et al. 2012

Journal of Craniofacial Surgery

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“…Patients with AS presented with mild and irregular intellectual disability, with varied alterations in some brain structures, besides the influence of the socioeconomic level and educational level of the parents 27 . In the present study, the prevalence of intellectual disability in patients with AS was 22.2%.…”

Section: Discussionmentioning

confidence: 99%

“…It should be highlighted that all patients with AS 27 and CS 30 with normal brain structures exhibited IQs above 70, showing a tendency. The language abilities were altered in 72.3% of the sample (Figure).…”

Section: Patientsmentioning

confidence: 95%

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

Maximino

Ducati

Abramides

et al. 2017

Arq. Neuro-Psiquiatr.

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Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. Results: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. Conclusion: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

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Apert syndrome: factors involved in the cognitive development

Cited by 32 publications

References 22 publications

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

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

Apert Syndrome

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

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