Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

BACKGROUND: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. OBJECTIVE: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. METHODS: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated. RESULTS: Fifty-four patients (mean age:15.2 years (±5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (±4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. CONCLUSIONS: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.

The neurodevelopmental profile of healthy children with premature anterior fontanel closure.

BACKGROUND: We aimed to assess the neurodevelopmental status of healthy children with premature anterior fontanel closure. METHODS: This retrospective observational study was conducted on 40 (20 M, 20 F) children admitted to Mersin University Pediatric Neurology Outpatient Clinic between 2015-2020 with complaints of premature fontanel closure. Patients with dysmorphic features, microcephaly, craniosynostosis, hypoxic-ischemic sequelae, infections, metabolic disorders, intracranial hemorrhage, epilepsy, endocrine problems, additional congenital anomalies, intrauterine growth retardation (IUGR), prematurity, and postmaturity were excluded. The Denver II and Bayley III tests were applied to all patients and controls. RESULTS: The Denver II identified retardations in gross motor skills (p = 0.015) and personal-social skills (p = 0.042) and Bayley III in cognitive (p = 0.030) and motor skills (p = 0.007) in the study group. None of the participants in the study group had neurodevelopmental retardation, according to the Bayley III normal standards. DISCUSSION: Our results suggest that children with premature fontanel closure may develop motor retardation. These children should, therefore, be closely monitored for neurodevelopmental aspects.

Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020.

PURPOSE: Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication (ASM) use in patients with JME. METHODS: Treatment choices in a total of 257 patients (age range 8-18 years, 152 girls, 105 boys) with JME diagnosed and treated between 2010 and 2020 were evaluated retrospectively. Seizure remission was defined as complete seizure control for at least 12 months. RESULTS: Across the study period and entire patient group, VPA was most commonly chosen as the initial ASM (50.9%), followed by LEV (44.4%), and lamotrigine (4.7%). VPA was also the most frequent first choice in the subgroup of boys (73.3%), while LEV was the commonest first choice in girls (57.9%). The sex difference regarding the ASM of the first choice was statistically significant (p<0.001). While VPA was the most frequent initial ASM in the first 5 years of the study period (2010-2015,n = 66, 64%), LEV had taken over as the most popular first ASM in the last 5 years (n = 83, 53.9%, p = 0.005). The most frequent reasons for discontinuation were inefficacy for LEV and adverse effects for VPA (p = 0.001). During follow-up, 237 patients (92.2%) were seizure-free for at least 12 months, and 159 (61.9%) were also in electrographic remission. Seizure remission occurred earlier than electroencephalographic remission (p<0.001). CONCLUSION: This study revealed that LEV has become the most frequently chosen initial ASM in the treatment of JME. Although LEV appears to have a better adverse effect profile, VPA seems more likely to be effective in achieving seizure control.

Developmental evaluation in children experiencing febrile convulsions.

BACKGROUND: The objective of this study was to determine the effect of febrile convulsion (FC) on neuromotor development. METHODS: Data of 325 patients, who were followed up at our outpatient clinic and diagnosed with FC between January 2012 and December 2018, were retrospectively evaluated. Of these patients, 203 underwent the Denver Developmental Screening Test II (DDST II) and were included in the study as the patient group and 100 healthy children as the control group. RESULTS: Of the study group, 84 (41.4%) were girls and 119 (58.6%) were boys (B/G: 1.4). Of all patients, 163 (80.3%) were diagnosed with simple FC, 22 (10.8%) with complicated FC, and 18 (8.9%) with FC+. There was no significant relationship found between FC subtypes and gender, family history of FC, family history of epilepsy, iron (Fe) deficiency, and Fe deficiency anemia. DDST II subtest points were significantly lower in all developmental areas in the patient group when compared to the controls (p < 0.001), while suspected and abnormal test results were higher in all developmental areas in the patient group compared to the controls (p=0.01). It was also determined that the language points were lower as the age of first seizure increased (r=- 0.319, p < 0.01). CONCLUSIONS: Although FC is known to usually having a good prognosis, the low DDST II test results measured in this study indicated that the FC may pose a developmental risk and patients with FC should be followed up in terms of developmental features. Because of the retrospective nature of the study, there was no `preconvulsion` developmental evaluation. This is a major limitation of our study.