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Introduction This study aimed to investigate selective muscle involvement by shear wave elastography (SWE) in patients with spinal muscular atrophy (SMA) types 2 and 3 and to compare SWE values with magnetic resonance imaging (MRI) in demonstrating muscle involvement. Methods Seventeen patients with SMA types 2 and3 were included in the study. SWE was used to evaluate stiffness of the upper and lower extremities and paraspinal muscles. Involvement of the paraspinal muscles was evaluated using 1.5-T MRI. Results Among the upper extremity muscles, SWE values were the highest for the triceps brachii; however, no significant difference was noted (p = 0.23). In post hoc analysis, a significant difference was observed between triceps brachii and biceps brachii (p = 0.003). Patients with a longer disease duration have the highest SWE values for the triceps brachii (r = 0.67, p = 0.003). Among the lower extremity muscles, SWE values for the iliopsoas were significantly higher than the gluteus maximus (p < 0.001). A positive correlation was found between SWE values and MRI scores of paraspinal muscles (r = 0.49, p = 0.045; r = 0.67, p = 0.003). Conclusion This is the first study to report muscle involvement assessed by SWE in patients with SMA types 2 and 3. Our findings are similar to the presence of selective muscle involvement demonstrated in previous studies, and also SWE and MRI values were similar. SWE is an alternative noninvasive practical method that can be used to demonstrate muscle involvement in patients with SMA, to understand the pathogenesis of segmental involvement, and to guide future treatments or to monitor the effectiveness of existing new treatment options. [ABSTRACT FROM AUTHOR]

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Byline: Muhammet. Varkal, Tu?çe. Uzunhan, Nur. Ayd?nl?, Bar??. Ekici, Mine. Çal??kan, Meral. Özmen Objectives: This study aims to retrospectively evaluate pediatric Guillain-Barré syndrome cases in a tertiary center in Istanbul, [...]

Objective: Chronic disease is defined as" a condition caused by irreversible pathological changes that may lead to permanent disability and may require special education, long-term care, supervision and control for the rehabilitation of the patient". If the patient is the child who is the most valuable asset of the family, this situation is a source of real trauma for the entire family. Hence; this study aimed to demonstrate that parents of children with chronic neurological disease have higher depression and anxiety levels depending on the circumstances they are involved and draw attention to the necessity of psychological support for these families. Method: This study was conducted with the parents and relatives of the sick children who applied to the Department of Pediatric Neurology of Istanbul Medical Faculty and the parents and relatives of healthy children who applied to the family health center Şişli in Istanbul. Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI) and family interview form prepared by the researcher were used in this study. Informed consent was obtained from the participants and face to face interview technique was applied. The responses of the participants; were written down by the participant or researcher on the form and they were asked to mark the options of the questions within the scope of BDI and BAI. Results: In this survey any significant difference was not observed between the group of parents of children with (patient group: n=60) and without chronic neurological disease (control group: n=60) (t =p 1.273 p>0.05). Conclusion: Lack of any significant difference between anxiety and depression levels of the case and control groups, but still higher anxety and depression levels in both groups demonstrate that further and more sophisticated studşes should be performed on this issue. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study is to determine the effects of the socio-demographic characteristics of the children with cerebral palsy and their parents on parental behaviors, and attitudes. Method: Mothers of 50 children aged 1-6 years with cerebral palsy, whose treatments continued or to be started and mothers of 50 healthy children without epilepsy, neurological disability, and chronic disease were included in the study. Socio-demographic characteristics of each of these three groups were compared with the "chi square Test". "Mann-Whitney U Test" was used for the comparison of the data related to parental child-rearing attitudes. The Statistical Package of Social Sciences was used for the statistical analysis. Results: According to the findings obtained in our study; the "overprotective" dimension was not different in mothers in both CP groups. Apart from the "overprotective" dimension, "equality-sharing", "rejection of being a housewife", "pousal incompatibility" and "oppression-discipline" dimensions were not significantly different between the two groups. The reason for the low level of working mothers in CP groups is parallel to their education level, suggesting that mothers do not work in order to be more interested in their children. It is thought that there is a direct proportional relationship between chronic illness and protectionism of mothers not being happy at home and chores and afraid of harming their children. The results of the study point out that at two CP groups there were no difference between parental child rearing attitudes for all dimensions of the PARI. Conclusion: As a result of our study, while focusing on motor activities of children with CP in diagnosis and treatment, it suggests that accompanying emotional and behavioral problems are mostly secondary, and emphasizes the importance of psychological counseling service in ensuring the adaptation of the family and children to the disease and guiding the attitudes and behaviors of the parents towards their children. [ABSTRACT FROM AUTHOR]

Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol. We retrospectively collected the data of 21 patients (11 females; mean age, 8.2 years, range: 5.4-15 years) with Dravet syndrome who were treated with stiripentol in our outpatient clinic between June 2016 and June 2017. Patients with seizure reduction ≥50% were considered responders. Most of our patients had severe (47%) or moderate (33%) cognitive disabilities, although 14% had mild cognitive disability. There was a significant difference in both status epilepticus and age between the groups with normal/mild versus severe/moderate neurocognitive prognoses. Of the patients, 85.7% were using stiripentol. The mean duration of stiripentol use was 41.2 months (range: 24-64 months). In 12 patients (57%), the seizure frequency decreased by more than 50%, and 2 of them were seizure-free. Status epilepticus was not recorded after stiripentol treatment in 8 of 11 patients with status epilepticus. Despite the small sample size, our results suggest that stiripentol has a favorable efficacy. In addition, considering the absence of status epilepticus after treatment and the negative effects of status epilepticus on cognitive development, early treatment should be initiated in SD patients, for whom disease control is difficult. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 2.5?year?old female, who was presented with elevated creatine kinase. Physical examination revealed Gowers's sign and pseudohypertrophy of both calves. Muscle biopsy revealed dystrophinopathy. Karyotype analysis of the mother showed 46, XX, demonstrating de novo translocation for the child, while translocation breakpoints were observed in dystrophin gene of the patient. Duchenne muscular dystrophy prognosis was carried out followed by physical therapy.