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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]

Copyright of Journal of the Child / Çocuk Dergisi is the property of Journal of Child and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose: The aim is to investigate the health-related quality of life (HRQOL) in children with myelomeningocele (MMC), compare the results with those of healthy children, and determine the factors related to HRQOL. Methods: Fifty children with MMC with a mean age of 8.96 ± 2.57 and 50 healthy children with a mean age of 9.50 ± 2.42 were included in the study. The demographic information form and the CHQ-PF-50 (Child Health Questionnaire Parent form 50) were completed to determine the quality of life (QOL) for the children. Ambulation levels of children with MMC and disease-specific findings were recorded. The HRQOL scores of children with MMC were compared with healthy children and assessed according to lesion levels and ambulation status. Results: The CHQ-PF-50 scores of healthy and MMC children had no significant difference in the sub-dimensions of health change (p > 0.05), but the mean QOL score of children with MMC was significantly lower in all other sub-dimensions (p < 0.05). In addition, QOL scores according to lesion levels in children with MMC were significantly different between the three groups (p < 0.05). The QOL scores were the highest in the sacral group and the lowest in the thoracic-high lumbar group. The QOL for non-ambulatory children was significantly lower than for ambulatory children with MMC (p < 0.05). Conclusions: The present study confirms that children with MMC have diminished HRQOL and non-ambulatory and children with high lesion levels are affected the most. Our result suggests that focusing on the activities that will enable children to acquire the ability to walk can positively affect the HRQOL. [ABSTRACT FROM AUTHOR]

Copyright of Journal of the Child / Çocuk Dergisi is the property of Journal of Child and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of the Child / Çocuk Dergisi is the property of Journal of Child and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of the Child / Çocuk Dergisi is the property of Journal of Child and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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]

Objectives: This study aims to retrospectively evaluate pediatric Guillain-Barré syndrome cases in a tertiary center in Istanbul, Turkey. Materials and Methods: The data of 40 patients with Guillain-Barré syndrome who had been admitted to the Department of Pediatrics at the Istanbul University Medical Faculty between 2005 and 2011 were collected. Mann-Whitney U, Kruskal-Wallis, chi-square, and Fisher's exact tests were used for statistical analysis. Results: Mean patient age was 5.4 ± 3.0 years; 20 out of 40 patients (50%) were female and 20 (50%) were male. Preceding infection was detected in 32 cases (80%). Six patients had speech impairment. Out of eight patients with respiratory distress (20%), five required respiratory support (12.5%) of which three of them had speech impairment as well. According to nerve conduction studies, 21 patients (52.5%) had acute inflammatory demyelinating polyradiculoneuropathy, 14 (35%) had acute motor axonal neuropathy, and five (12.5%) had acute motor-sensory axonal neuropathy. Thirty-three patients (82.5%) received intravenous immunglobulin, 3 (7.5%) underwent plasmapheresis and 4 (10%) received both. Time until recovery (P = 0.022) and time until aided (P = 0.036) and unaided (P = 0.027) walking were longer in patients with acute gastrointestinal infection than in those with upper respiratory tract infection (P < 0.05). Time until response to treatment (P = 0.001), time until aided (P = 0.001) and unaided (P = 0.002) walking, and time until complete recovery (P = 0.002) were longer in acute motor axonal neuropathy cases as compared to acute inflammatory demyelinating polyradiculoneuropathy cases. Conclusion: Recovery was longer with acute gastrointestinal infection and acute motor axonal neuropathy. Speech impairment could be a clinical clue for the need of mechanical ventilation. [ABSTRACT FROM AUTHOR]

Aim: Oral motor dysfunction is a common issue in children with cerebral palsy (CP). Drooling, difficulties with sucking, swallowing, and chewing are some of the problems often seen. In this study, we aimed to research the effect of oral motor therapy on pediatric CP patients with feeding problems. Materials and Methods: Included in this single centered, randomized, prospective study were 81 children aged 12-42 months who had been diagnosed with CP, had oral motor dysfunction and were observed at the Pediatric Neurology outpatient clinic of the Children's Health and Diseases Department, Istanbul Medical Faculty, Istanbul University. Patients were randomized into two groups: The training group and the control group. One patient from the training group dropped out of the study because of not participating regularly. Following initial evaluation of all patients by a blinded physiotherapist and pedagogue, patients in the training group participated in 1 h oral motor training sessions with a different physiotherapist once a week for 6 months. All patients kept on routine physiotherapy by their own physiotherapists. Oral motor assessment form, functional feeding assessment (FFA) subscale of the multidisciplinary feeding profile (MFP) and the Bayley scales of infant development (BSID.II) were used to evaluate oral motor function, swallowing, chewing, the gag reflex, the asymmetrical tonic neck reflex, tongue, jaw, and mouth function, severity of drooling, aspiration, choking, independent feeding and tolerated food texture during the initial examination and 6 months later. Results: When the initial and post.therapy FFA and BSID.II scores received by patients in the training and the study group were compared, the training group showed a statistically significant improvement (P < 0.05). Conclusion: Oral motor therapy has a beneficial effect on feeding problems in children with CP. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to examine cases of obstetric brachial plexus palsy (OBPP) treated over 20 years at a single tertiary center. Material and Method: We retrospectively reviewed 777 cases of OBPP who were observed at the Pediatric Neurology Department at Istanbul Medical Faculty between March 1989 and December 2010. The patients were evaluated in terms of demographic characteristics, treatment methods, surgical approaches, complications and functional levels according to Narakas Classification Scale. Results: Out of a total of 777 OBPP patients, 393 were female and 384 were male. The mean birth weight was 3968.9 g. Three of the patients were siblings. OBPP was bilateral In 3 patients; right sided in 463 patients and left sided in 311 patients. In terms of concomitant conditions, 82 patients had torticollis, 62 had Horner's syndrome, 47 had broken clavicle, 3 had broken humerus, 3 had cerebral palsy and 1 had facial paralysis. According to the Narakas classification, 430 patients (55%) were evaluated as stage 1 OBPP, 219 (28.5%) were evaluated as stage 2, 66 (8.5%) were evaluated as stage 3 and 62 (8%) were evaluated as stage 4. One third of the patients (%33) underwent Vojta and neurodevelopmental therapy in addition to routine physiotherapy. Complete recovery was observed in 439 (%56) of all patients, in 66% of the patients with stage 1 OBPP, in 56% of the patients with stage 2 OBPP, in 35% of the patients with stage 3 OBPP and in 18% of the patients with stage 4 OBPP. Botulinum Toxin Type A was applied in 97 cases; 30 patients underwent primary nerve surgery and 94 underwent multiple surgical procedures (25 of them required a second surgery and 15 required a third surgery). Various joint contractures were seen in 200 patients. Conclusions: Despite physiotherapy, Botulinum Toxin Type A application and surgical intervention, one out of three patients had difficulty using their arm and developed contractures and disabilities that affected their every day life. In conclusion, OBPP continues to be a severe problem leading to functional impairment and disability. [ABSTRACT FROM AUTHOR]

Copyright of Türk Pediatri Arşivi is the property of Aves Yayincilik Ltd. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose: The main object of the present study is to assess neuromotor development of high-risk infants by using three tests, and to determine inter-test concordance and the feasibility of these tests. Materials and Methods: One-hundred and nine patients aged between 0 and 6 months and identified as "high-risk infant" according to the Kliegman's criteria were enrolled to the study. Three different tests were used to assess neuromotor development of the patients: Bayley scales of infant development-II (BSID-II), Alberta infant motor scale (AIMS), and Milani Comparetti Motor Development Screening Test (MCMDST). Results: Correlation analysis was performed between pure scores of BSID-II motor scale and total scores of AIMS. These two tests were highly correlated (r:0.92). Moderate concordance was found between BSID-II and AIMS (k:0.35). Slight concordance was found between BSID-II and MCMDST; and the concordance was slight again for AIMS and MCMDST (k:0.11 and k:0.16, respectively) too. Conclusion: AIMS has a high correlation and consistency with BSID-II and can be used with routine neurological examination as it is based on observations, has few items, and requires less time to complete. [ABSTRACT FROM AUTHOR]

The aim of this study was to demonstrate demographics of 39 consecutive Spinal Muscular Atrophy (SMA) type 1 patients diagnosed genetically in a tertiary center between June 2006 and June 2009. There was history of consanguineous marriage in 27 (69%) patients. The average patient lifespan was 251 days (30-726 days). The average patient age at diagnosis was 129 days (33-297 days). A statistically significant correlation was found between the age at diagnosis and the lifespan ( p = 0.00). No significant correlation was found between the time spent in intensive care and the lifespan ( p = 0.43). Routine physical therapy was found to have no significant impact on the lifespan average ( p = 0.17). The cause of death in all of our patients was respiratory issues. Genetic counseling was given to 35 families. A second child with SMA was born in three out of the 14 families who declined prenatal diagnosis. Conclusion: A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the thyroid function alterations in a group of epileptic children taking antiepileptic drugs (AEDs). Patients demographic data and the free throxine (fT4) and thyroid-stimulating hormone (TSH) levels at the beginning of the treatment and at the third, sixth and ninth months of AED treatment were recorded retrospectively. A total of 106 children, 59 males and 47 females, were enrolled in the study. Mean patient age was 3.7 years, ranging between 3 months and 14 years. In total, 54%% of patients were on valproic acid (VPA), 16%% phenobarbital (PB), 14%% were on carbamazepine (CBZ), 6%% were on oxcarbazepine (OXC), 5%% were on levetiracetam, and 5%% were on topiramate therapy. There were no significant differences in average fT4 values between the drug groups. But the mean fT4 levels of the patients on VPA therapy showed a clear decrease within the observation period. No significant difference in average TSH values between the groups was detected in the beginning and in the third and sixth month. However, in the ninth month, a significant increase in TSH values was found in the VPA group ( p == 0.007). In the patients taking VPA, average TSH values rose progressively while staying within normal limits. During follow-up, thyroid dysfunction were found in 21 patients (19.6%%). A statistically significant relationship was found between severe electroencephalography (EEG) findings and thyroid dysfunction ( p == 0.041). It was concluded that epileptic children with severe EEG findings and using VPA could have thyroid dysfunction. These patients should be followed up closely by thyroid function tests during treatment. [ABSTRACT FROM AUTHOR]

Purpose: Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients. [ABSTRACT FROM AUTHOR]

Copyright of Türk Pediatri Arşivi is the property of Aves Yayincilik Ltd. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Türk Pediatri Arşivi is the property of Aves Yayincilik Ltd. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Aim: To define clinical features of patients with alternating hemiplegia of childhood. Methods: We retrospectively reviewed the clinical presentation and course of the disease in patients diagnosed between January 2003 and December 2008 at the Pediatric Neurology Department of the Istanbul Medical Faculty. Results: The nine patients had a mean age of 6.6 months (2-15 months) at the onset of symptoms. Paroxysmal eye movements were the early symptom of five patients. All patients had recurrent alternating hemiplegic episodes and relief of symptoms while sleeping. Duration of events varied widely from few minutes to several days and was associated with slowly progressive neurological deterioration. Flunarizine might decrease frequency of events but is not effective to neurological deterioration. Amantadine as an alternative agent is used in add-on therapy, but epileptogenic side effect prevented the evaluation of long-term efficacy. Conclusion: Trials on new agents like amantadine are necessary for more effective control of the disease. [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.