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1.
J Craniofac Surg ; 32(5): 1721-1726, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33534301

RESUMEN

INTRODUCTION: In this study, the authors seek to clarify the neurological changes before and after whole vault cranioplasty (WVC) in patients born with sagittal craniosynostosis. METHODS: A case control study design was performed that included thirty functional MRI scans, from 25 individual patients. Functional MRI and diffusion tension imaging data were analyzed with BioImageSuite (Yale University, USA). 9 functional brain networks were analyzed, with appropriate correlated functional regions of the brain and utilized for analysis. RESULTS: Comparing functional MRI the infants after WVC versus infants before WVC group, the after WVC group demonstrated an increased connectivity in the left frontoparietal, secondary (V2), and third (V3) visual networks (P < 0.001). The right frontoparietal (RFPN) had decreased connectivity (P < 0.001). There is also a decrease and increase in anisotropy in the cingulum and precuneus despite surgery, respectively (P < 0.05). Adolescents treated with WVC compared to controls, demonstrated an increased connectivity in the salience and decreased connectivity in the RFPN relative to adolescent controls. CONCLUSIONS: Patients born with sagittal craniosynostosis have different connections in infancy in most of the defined cerebral networks compared to controls. After surgery, there are specific connectivity changes that occur in the RFPN, left frontoparietal, V2, and V3 networks, which are areas associated with executive function and emotional control. Changes identified in white matter tract microstructure connections could be influential in changes in functional connectivity. Although, as a child with sagittal craniosynostosis develops, much of the abnormal network connections, seen in infancy preoperatively, corrects to some degree after surgery. However, some aberrancies in the salience and RFPN networks remain potentially affecting executive functioning.


Asunto(s)
Craneosinostosis , Imagen por Resonancia Magnética , Adolescente , Encéfalo , Estudios de Casos y Controles , Niño , Craneosinostosis/diagnóstico por imagen , Craneosinostosis/cirugía , Humanos , Lactante , Red Nerviosa
2.
J Craniofac Surg ; 32(1): 58-61, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33394632

RESUMEN

INTRODUCTION: Optimal age at surgery in nonsyndromic sagittal craniosynostosis continues to be debated. Previous reports suggest that earlier age at whole vault cranioplasty more frequently requires reoperation. It is unknown, however, whether reoperation affects neurocognitive outcome. This study examined the impact of reoperation on neurocognitive outcome in children with nonsyndromic sagittal craniosynostosis using comprehensive neurocognitive testing. METHODS: Forty-seven school-age children (age 5-16 years) with nonsyndromic sagittal craniosynostosis who underwent whole-vault cranioplasty were included in this analysis. Participants were administered a battery of standardized neuropsychological testing to measure neurocognitive outcomes. RESULTS: Thirteen of the 47 participants underwent reoperation (27.7%); 11 out of the 13 reoperations were minor revisions while 2 reoperations were cranioplasties. Reoperation rate was not statistically different between patients who had earlier surgery (at age ≤6 months) versus later surgery (at age >6 months) (P > 0.05). Nonreoperated patients who had only one later-in-life surgery did not perform statistically better than reoperated patients on any outcome measure of neurocognitive function, including IQ, academic achievement, visuomotor integration, executive function, and behavior. Comparing reoperated earlier surgery patients with nonreoperated later surgery patients, reoperated earlier surgery patients had higher full-scale and verbal IQ (P < 0.05), scored higher on word reading, reading comprehension, spelling, numerical operations, and visuomotor integration (P < 0.05), and had fewer indicators of suspected learning disabilities (P < 0.01) compared to nonreoperated later surgery patients. CONCLUSION: Reoperation rate after whole vault cranioplasty was 27.7%, with few cases of repeat cranioplasty (4.2% of all patients). Reoperation was not associated with worse neurocognitive outcome. Reoperated earlier surgery patients in fact performed better in IQ, academic achievement and visuomotor integration when compared to nonreoperated later surgery patients.


Asunto(s)
Craneosinostosis , Procedimientos de Cirugía Plástica , Adolescente , Niño , Preescolar , Craneosinostosis/cirugía , Humanos , Lactante , Discapacidades para el Aprendizaje , Reoperación , Cráneo/cirugía
3.
Nat Med ; 26(11): 1754-1765, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33077954

RESUMEN

Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with neurosurgical CSF diversion with high morbidity and failure rates. The poor neurodevelopmental outcomes and persistence of ventriculomegaly in some post-surgical patients highlight our limited knowledge of disease mechanisms. Through whole-exome sequencing of 381 patients (232 trios) with sporadic, neurosurgically treated CH, we found that damaging de novo mutations account for >17% of cases, with five different genes exhibiting a significant de novo mutation burden. In all, rare, damaging mutations with large effect contributed to ~22% of sporadic CH cases. Multiple CH genes are key regulators of neural stem cell biology and converge in human transcriptional networks and cell types pertinent for fetal neuro-gliogenesis. These data implicate genetic disruption of early brain development, not impaired CSF dynamics, as the primary pathomechanism of a significant number of patients with sporadic CH.


Asunto(s)
Ventrículos Cerebrales/metabolismo , Predisposición Genética a la Enfermedad , Hidrocefalia/genética , Neurogénesis/genética , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Ventrículos Cerebrales/diagnóstico por imagen , Ventrículos Cerebrales/patología , Exoma/genética , Femenino , Humanos , Hidrocefalia/líquido cefalorraquídeo , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/patología , Masculino , Mutación/genética , Células-Madre Neurales/metabolismo , Células-Madre Neurales/patología , Neuroglía/metabolismo , Neuroglía/patología , Factores de Transcripción/genética , Proteínas de Motivos Tripartitos/genética , Ubiquitina-Proteína Ligasas/genética , Secuenciación del Exoma
4.
J Craniofac Surg ; 30(2): 497-502, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30676447

RESUMEN

OBJECTIVE: The purpose of this study is to investigate further findings that corroborate similarities between corrected sagittal craniosynostosis and attention deficit hyperactivity disorder (ADHD). The aim is to further characterize the neurocognitive deficits seen in adolescents with corrected craniosynostosis by comparing it to established learning deficits such as ADHD. METHODS: A total of 30 functional magnetic resonance imaging (fMRI) of 10 sagittal nonsyndromic craniosynostosis (sNSC), 10 ADHD-combined, and 10 control adolescents were studied. The fMRI scans were analyzed utilizing Statistical Parametric Mapping (University College London, UK) and analyzed with BioImageSuite (Yale University, New Haven, CT). RESULTS: The ADHD has lower connectivity to Brodmann area (BA) 11 (Montreal Neurological Institution [MNI]: -12,26,-21), BA20 (MNI: 62,-24,-25), and BA21 (MNI: 62,-32,-23) compared to sNSC and controls (P < 0.001). The sNSC has a unique visuospatial defect, compared to ADHD, created by decreased connectivity to BA31 (MNI: -3,-68,37), BA7 (MNI: -4,-68,41), BA19 (MNI: 0,-83,31), visual association cortex (MNI: -4,-78,22), and primary visual cortex (MNI: 7,-74,21) (P < 0.001). CONCLUSION: Patients born with sNSC have different neural connections than children born with ADHD. Patients born with sNSC have decreased connections in areas of visual processing and increased connections in areas of attention and auditory processing than patients with ADHD. Therefore, children with sagittal craniosynsotosis may have learning difficulties that, similar, yet different from ADHD.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico por imagen , Craneosinostosis/complicaciones , Discapacidades para el Aprendizaje/diagnóstico por imagen , Imagen por Resonancia Magnética , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Estudios de Casos y Controles , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/fisiopatología , Niño , Craneosinostosis/diagnóstico por imagen , Craneosinostosis/psicología , Craneosinostosis/cirugía , Femenino , Humanos , Discapacidades para el Aprendizaje/etiología , Discapacidades para el Aprendizaje/fisiopatología , Masculino , Estudios Prospectivos
5.
Neuron ; 99(2): 302-314.e4, 2018 07 25.
Artículo en Inglés | MEDLINE | ID: mdl-29983323

RESUMEN

Congenital hydrocephalus (CH), featuring markedly enlarged brain ventricles, is thought to arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical CSF shunting with substantial morbidity. CH pathogenesis is poorly understood. Exome sequencing of 125 CH trios and 52 additional probands identified three genes with significant burden of rare damaging de novo or transmitted mutations: TRIM71 (p = 2.15 × 10-7), SMARCC1 (p = 8.15 × 10-10), and PTCH1 (p = 1.06 × 10-6). Additionally, two de novo duplications were identified at the SHH locus, encoding the PTCH1 ligand (p = 1.2 × 10-4). Together, these probands account for ∼10% of studied cases. Strikingly, all four genes are required for neural tube development and regulate ventricular zone neural stem cell fate. These results implicate impaired neurogenesis (rather than active CSF accumulation) in the pathogenesis of a subset of CH patients, with potential diagnostic, prognostic, and therapeutic ramifications.


Asunto(s)
Hidrocefalia/diagnóstico , Hidrocefalia/genética , Mutación/genética , Células-Madre Neurales/fisiología , Estudios de Cohortes , Exoma/genética , Femenino , Humanos , Masculino , Células-Madre Neurales/patología , Receptor Patched-1/genética , Linaje , Factores de Transcripción/genética , Secuenciación del Exoma/métodos
6.
Elife ; 52016 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-27606499

RESUMEN

Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing of 132 parent-offspring trios and 59 additional probands. Thirteen probands (7%) had damaging de novo or rare transmitted mutations in SMAD6, an inhibitor of BMP - induced osteoblast differentiation (p<10-20). SMAD6 mutations nonetheless showed striking incomplete penetrance (<60%). Genotypes of a common variant near BMP2 that is strongly associated with midline craniosynostosis explained nearly all the phenotypic variation in these kindreds, with highly significant evidence of genetic interaction between these loci via both association and analysis of linkage. This epistatic interaction of rare and common variants defines the most frequent cause of midline craniosynostosis and has implications for the genetic basis of other diseases.


Asunto(s)
Alelos , Proteína Morfogenética Ósea 2/genética , Craneosinostosis/genética , Mutación , Proteína smad6/genética , Exoma , Estudios de Asociación Genética , Humanos , Lactante , Penetrancia , Análisis de Secuencia de ADN
7.
J Neurosurg Pediatr ; 17(4): 460-8, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26684766

RESUMEN

OBJECT Nonsyndromic craniosynostosis (NSC) is associated with significant learning disability later in life. Surgical reconstruction is typically performed before 1 year of age to correct the cranial vault morphology and to allow for normalized brain growth with the goal of improving cognitive function. Yet, no studies have assessed to what extent normalized brain growth is actually achieved. Recent advances in MRI have allowed for automated methods of objectively assessing subtle and pronounced brain morphological differences. The authors used one such technique, deformation-based morphometry (DBM) Jacobian mapping, to determine how previously treated adolescents with sagittal NSC (sNSC) significantly differ in brain anatomy compared with healthy matched controls up to 11.5 years after surgery. METHODS Eight adolescent patients with sNSC, previously treated via whole-vault cranioplasty at a mean age of 7 months, and 8 age- and IQ-matched control subjects without craniosynostosis (mean age for both groups = 12.3 years), underwent functional 3-T MRI. Statistically significant group tissue-volume differences were assessed using DBM, a whole-brain technique that estimates morphological differences between 2 groups at each voxel (p < 0.01). Group-wise Jacobian volume maps were generated using a spacing of 1.5 mm and a resolution of 1.05 × 1.05 × 1.05 mm(3). RESULTS There were no significant areas of volume reduction or expansion in any brain areas in adolescents with sNSC compared with controls at a significance level of p < 0.01. At the more liberal threshold of p < 0.05, two areas of brain expansion extending anteroposteriorly in the right temporooccipital and left frontoparietal regions appeared in patients with sNSC compared with controls. CONCLUSIONS Compared with previous reports on untreated infants with sNSC, adolescents with sNSC in this cohort had few areas of brain dysmorphology many years after surgery. This result suggests that comprehensive cranioplasty performed at an early age offers substantial brain normalization by adolescence, but also that some effects of vault constriction may still persist after treatment. Specifically, few areas of expansion in frontoparietal and temporooccipital regions may persist. Overall, data from this small cohort support the primary goal of surgery in allowing for more normalized brain growth. Larger samples, and correlating degree of normalization with cognitive performance in NSC, are warranted.


Asunto(s)
Encéfalo/patología , Craneosinostosis/cirugía , Imagen por Resonancia Magnética/métodos , Evaluación de Resultado en la Atención de Salud , Adolescente , Niño , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino
8.
Inj Epidemiol ; 2(1): 2, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27747734

RESUMEN

BACKGROUND: Connecticut (CT) passed its original sport-related concussion (SRC) law (PA 10-62) in 2010. The law requires that a health-care professional evaluate high school athletes with concussion symptoms. The purpose of this study was to evaluate two level 1 Trauma Center Emergency Department (ED) records for SRC before and after the Connecticut Public Act (CT PA) 10-62 to determine if the law had an effect on the presentation to the ED of SRCs. METHODS: A retrospective analysis of two level 1 Trauma Center Emergency Departments database was performed. Monthly data on SRCs treated in the study EDs from July 2003 through June 2012 were collected and analyzed using the autoregressive integrated moving average model. The number of SRCs in the youth (under age 14 years), high school (age 14 to 18 years), and adult (age >18 years) populations prior to CT PA 10-62 was compared to the number of SRCs post implementation of CT PA 10-62 for each academic school year, fall sports season, and summertime. RESULTS: Monthly SRCs in high school students treated in the study EDs increased from 2.5 cases to 5.9 cases between pre and post implementation of CT PA 10-62 (p < 0.001). Statistical modeling revealed that implementation of CT PA 10-62 was associated with significantly increased SRCs treated in the study EDs and that the increase was limited to the high school students in the fall season and during the school year. CONCLUSIONS: There has been a marked increase in the frequency of SRCs treated in the emergency departments in the high school population in Connecticut after the implementation of the sport-related concussion law. The results suggest that the sport-related concussion law in Connecticut is effective in improving the evaluation and detection of SRCs in high school students.

9.
Plast Reconstr Surg ; 134(4): 608e-617e, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25357055

RESUMEN

BACKGROUND: The relationship between surgical age and long-term neuropsychological outcomes in sagittal-suture craniosynostosis remains equivocal. Whole-vault cranioplasty and strip craniectomy are performed at various times in individuals with sagittal-suture craniosynostosis. This study used comprehensive neurological testing to examine the relationship between age at time of surgery and long-term neuropsychological function. METHODS: Seventy sagittal-suture craniosynostosis patients who had previously undergone either whole-vault cranioplasty or strip craniectomy were examined divided into three groups: treatment before 6 months (n = 41), between 6 and 12 months (n = 21), and after 12 months (n = 8). To examine long-term cognitive functioning, participants between the ages of 5 and 25 years underwent neurodevelopmental tests to evaluate intelligence, achievement, and learning disabilities. RESULTS: Compared with those treated between 6 and 12 months and after 12 months, patients who underwent surgery before 6 months demonstrated higher full-scale IQ (p < 0.01) and verbal IQ (p < 0.01). Patients who received surgery before 6 months also demonstrated superior abilities in word reading (p < 0.01), reading comprehension (p < 0.01), spelling (p < 0.01), and numerical operations (p < 0.05) relative to those who had surgery between 6 and 12 months old. A statistically significant higher percentage of patients treated after 6 months had one or more reading-related learning disabilities as compared with those undergoing earlier surgery. CONCLUSIONS: This study suggests that surgery before 6 months old results in improved long-term neurological outcomes. Future studies should examine how the technique of surgery impacts these neuropsychological measures. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.


Asunto(s)
Craneosinostosis/cirugía , Discapacidades para el Aprendizaje/epidemiología , Complicaciones Posoperatorias/epidemiología , Adolescente , Factores de Edad , Niño , Humanos , Lactante , Discapacidades para el Aprendizaje/diagnóstico , Pruebas Neuropsicológicas , Complicaciones Posoperatorias/diagnóstico , Estudios Retrospectivos , Factores de Tiempo , Adulto Joven
10.
Clin Med Insights Pathol ; 7: 15-20, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24940089

RESUMEN

PURPOSE: Spinal teratomas comprise a rare subset of spinal cord tumors, and here, we describe an even rarer childhood thoracic extradural-intracanalicular teratoma. The clinical presentation, management, and pathophysiology of these tumors are reviewed to promote recognition and guide treatment of these lesions. METHODS: We report the case of a 21-month-old boy who presented with marked spasticity, as well as failure to ambulate and meet motor milestones. Additionally, we provide a literature review of spinal teratomas, including their clinical presentation, work-up, pathophysiology, and underlying genetics. RESULTS: An MRI of the spine revealed a large dorsal epidural tumor extending from T3 to T10 with heterogeneous contrast enhancement and severe spinal cord compression. The tumor was resected revealing a cystic mass with tissue resembling hair, muscle, as well as cartilage; pathology confirmed the diagnosis of teratoma. Gross total resection was achieved, and the child eventually gained ambulatory function. CONCLUSIONS: Given that spinal teratomas are rare entities that can present with significant neurologic compromise, they must remain on clinicians' differentials. Unfortunately, the exact origin of these tumors remains inconclusive and requires further investigation.

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