Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment

Fernandes, Adriano Yacubian; Palhares, Aristides; Giglio, Alcir; Gabarra, Roberto Colichio; Zanini, Silvio Antonio; Portela, Luis; Plese, José Píndaro Pereira

doi:10.1016/s0150-9861(04)96978-7

Cited by 46 publications

(52 citation statements)

References 30 publications

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“…The conformational alterations of the CNS s t ru c t u res were evident when operated patients w e re compared to non-operated ones 8 . The classically described rising of the encephalic stru c t u re s was reduced in operated patients.…”

Section: Discussionmentioning

confidence: 96%

“…The cavum Ve rgae was defined as a cavity posterior to the septum pellucidum. These criteria for brain abnormalities were cited before 8 . The social analysis of the families was done by using the Graciano et al 9 method proposed in 1999 that includes the number of members in the family, educational degre e , type of the habitation, employment and salary.…”

Section: Methodsmentioning

confidence: 99%

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Apert syndrome: factors involved in the cognitive development

Fernandes

Palhares

Giglio

et al. 2005

Arq. Neuro-Psiquiatr.

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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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Section: Discussionmentioning

confidence: 96%

Section: Methodsmentioning

confidence: 99%

Apert syndrome: factors involved in the cognitive development

Fernandes

Palhares

Giglio

et al. 2005

Arq. Neuro-Psiquiatr.

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show abstract

“…Even though it is not seen as possible, any defect in localized structures like CSP may play an important role in the etiology of schizophrenia. On the other hand the abnormalities of CSP are not special to schizophrenia and other psychotic disorders because those findings can be seen in developmental disorders like Fetal Alcohol Syndrome, Sotos and Apert syndromes (15)(16)(17). Though, among the disorders like panic disorder the width and the prevalence are in the normal borders.…”

Section: Discussionmentioning

confidence: 99%

The relationship between schizophrenia and Cavum septum pellucidum: a case study

Aşçıbaşı¹,

Aydın²,

Kuzu³

et al. 2014

Dusunen Adam

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The relationship between schizophrenia and cavum septum pellucidum: a case study Septum pellucidum that forming the medial wall of the lateral ventricles, a thin layer is formed by two laminae. Cavum septum pellucidum (CSP), a space between the two leaflets of the septi pellucidi, is thought to be a neurodevelopmental anomaly associated with schizophrenia. In normal fetal development, the formation of septum pellucidum occurs at the same time with the development of the neighboring limbic system structures such as hippocampus, amygdala, corpus callosum, septal nucleus. Therefore, the anatomical differences that are detected in the septum pellucidum may reflect the embryonal development disorders of the adjacent anatomical structures. Several magnetic resonance imaging studies have reported a higher prevalence of enlarged CSP in patients with schizophrenia than in normal subjects. In the literature of psychiatric disorders, CSP is most associated with schizophrenia. Wide CSP may support the neurodevelopmental etiology of schizophrenia. In this report we present a schizophrenia case. And we tried to discuss the patient's clinical appearance and neurocognitive disability.

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“…Lajeunie et al, 1999;maliepaard et al, 2014;Patton et al, 1988). In a more recent study of 18 people with Apert syndrome (yacubian-Fernandes et al, 2004) aged between one year and 26 years, with an average of eight years, assessments on developmental or cognitive functions were correlated with the age of the patient, age at which cranial surgery was performed, brain development and quality of family environment. In this study, 77.8% of the children had cognitive assessment scores within the normal range.…”

Section: Speech Language and Cognitive Developmentmentioning

confidence: 99%

“…This is important because, although children with Apert syndrome show substantial variation in cognitive development and a wide range of IQ scores, it has not been possible to identify a cause for this variablility (e.g. Lefebvre, Travis, Arndt, & munro, 1986;Patton et al, 1988;Renier et al, 1996;yacubian-Fernandes et al, 2004). Issues discussed in previous research, which are thought to have the potential to impact the cognitive development of children with Apert syndrome, have included:…”

Section: Introductionmentioning

confidence: 99%

An Exploration of the Cognitive, Physical and Psychosocial Development of Children with Apert Syndrome

Hilton

2016

International Journal of Disability, Development and Education

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Apert syndrome is a rare condition, with a birth prevalence of approximately one in 65,000. This article provides an up-to-date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts. The purpose of the review is to provide a holistic description of the syndrome which should be of assistance to those interested in understanding the impact of Apert syndrome on children and young people with the syndrome. Children with Apert syndrome are at risk for a range of impairments, disabilities and consequent complex needs which can have implications for their personal development, social inclusion and education. As a consequence, those involved in the care of children and young people with Apert syndrome have the challenging task of balancing the management of surgical interventions alongside the needs of the growing child.

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Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment

Cited by 46 publications

References 30 publications

Apert syndrome: factors involved in the cognitive development

Apert syndrome: factors involved in the cognitive development

The relationship between schizophrenia and Cavum septum pellucidum: a case study

An Exploration of the Cognitive, Physical and Psychosocial Development of Children with Apert Syndrome

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