scholarly journals Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.

1996 ◽  
Vol 33 (3) ◽  
pp. 224-226 ◽  
Author(s):  
K Devriendt ◽  
L D'Espallier ◽  
J P Fryns
Author(s):  
Edwin Dias ◽  
Sonali P. ◽  
Deeksha A. ◽  
Zulqarnain M.

Seckel Syndrome first defined by Seckel in 1959, is a rare (incidence 1:10000) genetically heterogeneous, autosomal recessive disorder presenting at birth. This syndrome is characterised by a proportionate dwarfism of prenatal onset, severe microcephaly with a bird headed appearance (beaked nose, receding forehead, prominent eyes and micrognathia) and mental retardation in addition to the characteristics craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular hematopoietic, endocrine, gastrointestinal and central nervous system. Usually such patients have poor psychomotor development.


2021 ◽  
Vol 11 (11) ◽  
pp. 249-265
Author(s):  
B. Lobasyuk ◽  
L. Bartsevich ◽  
A. Zamkovaya

Justification. Mental retardation is a persistent decrease in human cognitive activity against the background of organic damage to the central nervous system. Neurophysiological diagnostics, in particular electroencephalography (EEG), most adequately reflects the morpho-functional state of the central nervous system, which is the basis of the mechanisms of mental activity, and the originality of the bioelectrical activity of the brain can be considered as the main indicator that determines a decrease in the level of intellectual development and, thereby, characterizes this state. This provision actualizes the search for highly informative indicators of the originality of the bioelectrical activity of the brain in children with intellectual disabilities. Purspose. With the use of periodometric analysis investigate EEG’s indicators and interhemispheric asymmetry of rhythms amplitudes in MR patients. Materials and methods. The EEG was recorded in a state of calm wakefulness with closed eyes with Neuron-Spectrum-2 electroencephalograph. Differences in indicators were tracked using the calculation of the coefficient of compliance (CC), EEG functional asymmetry coefficients in amplitude were determined, too. Results. It was revealed that in MR patients the amplitudes of the rhythms were greater than in healthy subjects. The greatest increase was determined in theta rhythm in the anterior temporal and posterior temporal leads in the left hemispheres. Duration indices in the delta, theta and alpha ranges of the EEG in mental retardation compared with the control group were increased, and the indices of the duration of beta rhythms - decreased. When analyzing FMPA in MR persons it turned out that in right-handers the negativeness of FMPA indices increased, and in left-handers there was an increase in the positivity of FMPA indices. Conclusions 1. With mental retardation, the amplitudes of the rhythms were greater than in healthy people. The greatest increase was determined in theta rhythm in the anterior temporal and posterior temporal leads in the left hemispheres. 2. The indices of duration in the delta, theta and alpha ranges of the EEG of MR subjects were increased, and the indices of the duration of beta rhythms – decreased. 3. When analyzing FMPA in MR persons, it turned out that in right-handers the negativeness of FMPA indices increased, and in left-handers there was an increase in the positivity of FMPA indices.


2021 ◽  
pp. 1057-1070
Author(s):  
Lily C. Wong-Kisiel

Abnormal development of the central nervous system is a common cause of developmental delay and epilepsy. An understanding of central nervous system malformation begins with an overview of normal embryology. Genetic advances in embryogenesis have unfolded a complex orchestration of gene expressions in place of the traditional developmental epochs (induction, neurulation, proliferation, migration, organization, synaptogenesis, and myelination). Causes of malformation of the central nervous system are multifactorial. Genetic causes, vitamin excess or deficiency, infections, or teratogens any time during pregnancy may disturb the preprogrammed mechanisms.


2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Yuehong Zhou

This study was to explore the application of deep learning neural network (DLNN) algorithms to identify and optimize the ultrasound image so as to analyze the effect and value in diagnosis of fetal central nervous system malformation (CNSM). 63 pregnant women who were gated in the hospital were suspected of being fetal CNSM and were selected as the research objects. The ultrasound images were reserved in duplicate, and one group was defined as the control group without any processing, and images in the experimental group were processed with the convolutional neural network (CNN) algorithm to identify and optimize. The ultrasound examination results and the pathological test results before, during, and after the pregnancy were observed and compared. The results showed that the test results in the experimental group were closer to the postpartum ultrasound and the results of the pathological result, but the results in both groups showed no statistical difference in contrast to the postpartum results in terms of similarity ( P > 0.05 ). In the same pregnancy stage, the ultrasound examination results of the experimental group were higher than those in the control group, and the contrast was statistically significant ( P < 0.05 ); in the different pregnancy stages, the ultrasound examination results in the second trimester were more close to the postpartum examination results, showing statistically obvious difference ( P < 0.05 ). In conclusion, ultrasonic image based on deep learning was higher in CNSM inspection; and ultrasonic technology had to be improved for the examination in different pregnancy stages, and the accuracy of the examination results is improved. However, the amount of data in this study was too small, so the representative was not high enough, which would be improved.


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