scholarly journals Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI

Author(s):  
Romina Romaniello ◽  
Filippo Arrigoni ◽  
Patrizia De Salvo ◽  
Maria Clara Bonaglia ◽  
Elena Panzeri ◽  
...  
2016 ◽  
Vol 32 (1) ◽  
pp. 60-71 ◽  
Author(s):  
Romina Romaniello ◽  
Susan Marelli ◽  
Roberto Giorda ◽  
Maria F. Bedeschi ◽  
Maria C. Bonaglia ◽  
...  

To gain a better understanding of the clinical and genetic features associated with agenesis of corpus callosum, we enrolled and characterized 162 patients with complete or partial agenesis of corpus callosum. Clinical and genetic protocols allowed us to categorize patients as syndromic subjects, affected by complex extra-brain malformations, and nonsyndromic subjects without any additional anomalies. We observed slight differences in sex ratio (56% males) and agenesis type (52% complete). Syndromic agenesis of corpus callosum subjects were prevalent (69%). We detected associated cerebral malformations in 48% of patients. Neuromotor impairment, cognitive and language disorders, and epilepsy were frequently present, regardless of the agenesis of corpus callosum subtype. Long-term follow-up allowed us to define additional indicators: syndromic agenesis of corpus callosum plus patients showed the most severe clinical features while isolated complete agenesis of corpus callosum patients had the mildest symptoms, although we observed intellectual disability (64%) and epilepsy (15%) in both categories. We achieved a definitive (clinical and/or genetic) diagnosis in 42% of subjects.


Author(s):  
Quinton J Mandle

<p>A critical appraisal and clinical application of Romaniello R, Marelli S, Giorda R, et al. Clinical characterization, genetics, and long-term follow-up of a large cohort of patients with agenesis of the corpus callosum. <em>Journal of Child Neurology</em>, 2016;32(1):60-71. doi: <a href="https://doi.org/10.1177/0883073816664668">10.1177/0883073816664668</a>.</p>


2007 ◽  
Vol 65 (4a) ◽  
pp. 931-935 ◽  
Author(s):  
Fernando Faria Andrade Figueira ◽  
Valeria Silva dos Santos ◽  
Gustavo Medeiros Andrade Figueira ◽  
Ângela Correa Marques da Silva

Rather than acute inflammation, long-standing multiple sclerosis (MS) course is hallmarked by relentless axonal loss and brain atrophy, both with subtle clinical expression and scarcely visible on conventional MRI studies. Brain atrophy imaging has sophisticated methodological requirements, not always practical and accessible to most centers. Corpus callosum (CC) is a major inter-hemispheric white matter bundle, grossly affected by long term MS and easily assessed by MRI. To determine whether a practical imaging method can reliably follow presumed axonal loss in patients with progressive MS, we designed a 5-year prospective open label study, enrolling 128 consecutive patients (75 relapsing-remitting (RR) and 53 secondary-progressive (SP)), on regular immunomodulatory therapy compared to control group, formed by 23 patients with MRI considered normal. On a conventional best mid-saggital T1W, CC index (CCI) was obtained by measuring anterior, medium and posterior segments of CC, normalized to its greatest anteroposterior diameter using an orthogonal semi-automated linear system. CCI was measured at baseline and at least once yearly. Results were plotted intra-individually; baseline values were used as reference. At baseline, CCI was able to distinguish SP patients from RR and controls, and on follow-up, despite some overlap, demonstrated a progressive reduction from baseline on both RR and SP groups compared to controls. From the third year on, difference between SP and RR patients reached statistical significance, which did not correlated with disability measured by EDSS. So, a corpus callosum index proved practical and feasible to longitudinally demonstrate morphometric callosal changes with potential to be used as a tool for long-term follow-up, mostly in SP patients.


2008 ◽  
Vol 32 (3) ◽  
pp. 317-317 ◽  
Author(s):  
J. H. Stupin ◽  
I. Blasi ◽  
I. B. Fuchs ◽  
V. Raile ◽  
H. Freitag ◽  
...  

2019 ◽  
Vol 42 ◽  
Author(s):  
John P. A. Ioannidis

AbstractNeurobiology-based interventions for mental diseases and searches for useful biomarkers of treatment response have largely failed. Clinical trials should assess interventions related to environmental and social stressors, with long-term follow-up; social rather than biological endpoints; personalized outcomes; and suitable cluster, adaptive, and n-of-1 designs. Labor, education, financial, and other social/political decisions should be evaluated for their impacts on mental disease.


2001 ◽  
Vol 120 (5) ◽  
pp. A397-A397
Author(s):  
M SAMERAMMAR ◽  
J CROFFIE ◽  
M PFEFFERKORN ◽  
S GUPTA ◽  
M CORKINS ◽  
...  

2001 ◽  
Vol 120 (5) ◽  
pp. A204-A204
Author(s):  
B GONZALEZCONDE ◽  
J VAZQUEZIGLESIAS ◽  
L LOPEZROSES ◽  
P ALONSOAGUIRRE ◽  
A LANCHO ◽  
...  

2001 ◽  
Vol 120 (5) ◽  
pp. A754-A755 ◽  
Author(s):  
H ALLESCHER ◽  
P ENCK ◽  
G ADLER ◽  
R DIETL ◽  
J HARTUNG ◽  
...  

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