Una revisión de la literatura acerca de las características neuropsicológicas de niños con craneosinostosis simple en diferentes edades / A review of the literature on the neuropsychological characteristics of children with single suture craniosynostosis at different ages

Introduction: Single suture craniosynostosis is the premature closure of one or more cranial sutures. It leads to abnormal skull growth and in some cases to structural and/or functional brain abnormalities. If these anomalies cause a psychomotor development lag and/or cognitive impairment is a controversial topic. This study aims to review the main findings related to psychomotor development and cognitive functioning in children with craniosynostosis, from birth to school age, dividing them into three stages: birth to 3 years, preschool and school. Method: An electronic search was made in PubMed from 2000 to 2015, using the following keywords: "craniosynostosis and neurodevelopment", "craniosynostosis and neuropsychological", "craniosynostosis and cognition". Results: In the early stage of life some children with craniosynostosis can have motor, language and cognition deficits; these impairments are also present in a variable percentage of preschool children, in some cases accompanied with behavior disorders; deficits in attention, executive functions and learning disorders, are reported in school years. Conclusion: Some neuropsychological alterations are found in a variable proportion of patients with craniosynostosis in all stages of development whichare revealed depending on the demands of each age. It is difficult to draw a cognitive profile for this population because of the heterogeneity related to characteristics of the sample, time of assessment, functions assessed and instrument used. It is important to make longitudinal neuropsychological assessments to know how children with craniosynostosis are developing in late stages and to develop consensus about cognitive functions and assessment instruments appropriate for each age.

Introducción: La craneosinostosis simple es el cierre prematuro de una o más suturas craneales que provoca crecimiento anormal del cráneo y en algunos casos anormalidades cerebrales estructurales y/o funcionales. Es un tema controversial si estas anormalidades causan el retraso psicomotor y/o cognitivo reportado en estos pacientes. Esta revisión tiene como objetivo abordar los hallazgos encontrados en el desarrollo psicomotor y cognitivo en niños con craneosinostosis, desde el nacimiento hasta la edad escolar, dividiéndolos en tres etapas: nacimiento a 3 años, etapa preescolar y escolar. Método: Se realizó una búsqueda en PubMed del 2000 al 2015, utilizando estas palabras claves: "craniosynostosis and neurodevelopment", "craniosynostosis and neuropsychological", "Craniosynostosis and cognition". Resultados: En las etapas tempranas de la infancia, los niños con craneosinostosis pueden tener deficiencias motoras, de lenguaje y cognitivas; estos déficits están presentes en un porcentaje variable en la etapa preescolar y pueden acompañarse de alteraciones conductuales; deficiencias atencionales, ejecutivas y de aprendizaje, se reportan en la edad escolar. Conclusión: Se reportan alteraciones neuropsicológicas en un porcentaje variable en estos pacientes en todas las etapas del desarrollo, que se van manifestando conforme las demandas del ambiente. Es difícil establecer un perfil neuropsicológico debido a la heterogeneidad de las características de las muestras en los estudios, el tiempo de la evaluación, las funciones estudiadas y los instrumentos utilizados. Es importante realizar un seguimiento longitudinal para conocer el desarrollo de estos niños, así como el hacer un consenso sobre las funciones cognitivas a evaluar e instrumentos a utilizar para cada edad.

Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.

BACKGROUND : 677C to T allele in the 5, 10‑methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of various syndromes and nonsyndromic diseases but till date no direct studies have been reported with craniosynostosis. OBJECTIVES: The aim was to study the family‑based association of MTHFR polymorphism in different categories of craniosynostosis patients. MATERIALS AND METHODS: This was a cross‑sectional study in which 30 patients classified as Apert syndrome, Pfeiffr syndrome and nonsyndromic craniosynostosis patients with their family were recruited. A sample of 3 ml intravenous blood was taken from patients and from their family members (father and mother) in ethylenediaminetetraacetic acid‑anticoagulated vacutainer for the purpose of the study. Genomic DNA was extracted from peripheral blood lymphocytes by phenol chloroform extraction method. Primers for MTHFR gene were designed. The polymerase chain reaction was carried out. After successful amplification, a small aliquot (5 µl) of the MTHFR reaction mixture was treated with 1 units of Hinf I restriction enzyme (NEB). Results were obtained and compiled. RESULTS: A total of 30 patients/participants with craniosynostosis of Indian descent and their parents formed the study group. The genotyping did not confirm an association between the MTHFR 677C to T polymorphism and between different categories of craniosynostosis. When comparing the offspring of mothers statistically significant differences were found. CONCLUSION: C667T polymorphism of the MTHFR gene is unlikely to play a role in the pathogenesis of craniosynostosis though maternal MTHFR C677T polymorphism may be a genetic risk factor.

Craniosynostosis genetics: The mystery unfolds.

Craniosynsostosis syndromes exhibit considerable phenotypic and genetic heterogeneity. Sagittal synostosis is common form of isolated craniosynostosis. The sutures involved, the shape of the skull and associated malformations give a clue to the specific diagnosis. Crouzon syndrome is one of the most common of the craniosynostosis syndromes. Apert syndrome accounts for 4.5% of all craniosynostoses and is one of the most serious of these syndromes. Most syndromic craniosynostosis require multidisciplinary management. The following review provides a brief appraisal of the various genes involved in craniosynostosis syndromes, and an approach to diagnosis and genetic counseling.

[Survey the cephalic index in Guilanian adults [a cephalometric study]]

Study of normal morphological features of the skull with precise measurement methods is named Cephalometry. The most important dimension of cephalometric is height and width of head. Occipital flattening is common among Guilanian people, so cephalometric measurements and use of cephalic index is necessary for detailed evaluation of morphological specifications of their skulls. To evaluate the probable differences of Guilanian cephalic index with other studies. In this prospective descriptive study 190 patients were selected among all Guilanian people with AP and lateral skull x-rays referring to inpatient or outpatient wards of Poorsina hospital in Rasht, Cephalic index was statistically evaluated after ruler measurement and calculation of percentage of maximal head width and maximal head length relation, in skull x-rays. Among 190 Guilanian people 151 persons were male and 39 persons were female. The mean age of them was 31.8 years. Mean of maximal head width and length were 15.358 +/- 1 and 17.752 +/- 1.1cm respectively. Mean cephalic index was 86.4 +/- 4.4 in the Brach cephalic range. Ninety percent of cases had Brach cephalic and 10% had mesocephalic skull, without any dolichocephalic skull. In this study brachycephaly is common among Guilanian adults, like other studies. There is differences between the results of this study with other world studies [the mesocephalic skulls are the prominent type], but there is no difference with studies on other areas of Iran

Deformidades craneoestenoticasfaciales su estudio en nuestro medio (1992- 2009) / Craniofacialsynostosis malformations a study in our department (1992- 2009)

Las deformidades craneoestenóticas-faciales o alteraciones morfo-volumétricas del cráneo y la cara, de etiopatogenia discutida y tratamiento siempre quirúrgico y precoz, motivan esta investigación longitudinal y retrospectiva de 108 sujetos operados de la craneoestenosis que forma parte de todas ellas, teniendo en cuenta las siguientes variables: edad, sexo, tipos de craneoestenosis, estudios imagenológicos y neurofisiológicos pre y postoperatorios, complicaciones acaecidas en el trans o postoperatorio, se llegó a los siguientes resultados: Edad predominante, 1 año (51.9 por ciento), sexo masculino (83.3 por ciento), tipo de craneoestenosis mayor número de veces presente, la escafocefalia (68 niños/63 por ciento). Estudios Preoperatorios. Imagenología: La radiografía simple de cráneo en tres vistas mostró mayor número de veces el diagnóstico de imagen, con aumento de presencia de impresiones digitiformes (18 pacientes/16.6 por ciento); mientras que TAC de Cráneo permitió diagnosticar tempranamente (7 niños/6.5 por ciento) signos de hidrocefalia y presencia de atrofia cerebral ( 27 sujetos/25 por ciento); imágenes diagnósticas fundamentales para confirmar diagnóstico precoz de craneoestenosis. Estudios Neurofisiológicos (EEG), patológicos (73 pacientes/67.5 por ciento), resultados no encontrados en estudios evolutivos posteriores a los 6 meses de la cirugía. Siendo muy escasas la presencia de complicaciones trans y postoperatorias, no obstante ocurrir una muerte súbita (0.9 por ciento), en el postoperatorio inmediato (72 horas).

Craniofacialsynostotic malformations and morpho-volume alterations of the skull and the face of discussed etiopathogenesis and early surgical treatment have motivated a longitudinal and retrospective research of a 108 subjects who underwent surgery of craniosynostosis taking into consideration the following variables: age, sex, type of craniosynostosis, imaging and neurophysiologic studies either pre or post operatory, as well as during and post operatory complications; resulting in the following : predominant age 1 year (51.9 percent), male (83.3 percent), type of craniosynostosis of greater number of presence, scafocephaly (68 children/63 percent). The pre operatory imaging studies.: were simple radiography of the skull of three views showing greater number of times an image diagnosis, with increased presence of digit forms impressions (18 patients/16.6 percent); whereas skull CT scan allowed to early diagnose (7 children/6.5 percent) signs of hydrocephaly and the presence of cerebral atrophy, (27 subjects/25 percent); essential diagnostic images to confirm early diagnosis of craniosynostosis. Neurophysiologic studies (EEG), pathologic (73 patients /67.5 percent), with no result in follow up studies after six months of surgery. Having little presence of complications during or post operatory; however, one sudden death occurred (0.9 percent), in the immediate post operatory (72 hours).