Cortical and subcortical morphometric changes in patients with frontal focal cortical dysplasia type II.

PURPOSE: This study investigates the morphometric changes in the brains of patients with frontal focal cortical dysplasia (FCD) Type II, distinguishing between right and left FCD, using voxel-based morphometry (VBM), surface-based morphometry (SBM), and subcortical shape analysis. METHODS: The study included 53 patients with frontal lobe FCD Type II (28 left-sided, 25 right-sided) and 66 age- and gender-matched healthy controls. VBM and SBM analyses were conducted using Computational Anatomy Toolbox 12.8 (CAT12.8) and Statistical Parametric Mapping 12 (SPM12). Subcortical structures were segmented using FSL-FIRST. Statistical analyses were performed using non-parametric tests, with a significance threshold of p < 0.05. RESULTS: VBM revealed increased gray matter volume in the bilateral ventral diencephalon, left putamen, and left thalamus in the left FCD group. SBM indicated reduced sulcal depth in the right precentral, postcentral, and caudal middle frontal gyrus in the right FCD group. Subcortical shape analysis showed internal deformation in the left hippocampus and external deformation in bilateral putamen in the left FCD group, and external deformation in the left caudate nucleus, left putamen, and right amygdala in the right FCD group. CONCLUSION: Morphometric changes in frontal FCD Type II patients vary depending on the hemisphere. Right FCD Type II is associated with sulcal shallowing and external deformation in contralateral subcortical structures, while left FCD Type II shows internal and external deformations in the hippocampus and putamen, respectively, along with increased gray matter volume in the basal ganglia. These findings highlight the need for hemisphere-specific analyses in epilepsy research.

Stigma, seizure self-efficacy, and quality of life in children with epilepsy.

INTRODUCTION: In addition to seizure care, it has been well-established that a holistic approach to the treatment of children with epilepsy that addresses the social, behavioral, and psychological dimensions also benefits their quality of life (QoL). The aim of this study was to investigate the patient and parental perceived stigma, seizure self-efficacy of children with epilepsy, and the relationship with quality of life in terms of sociodemographic and epilepsy-related factors. METHOD: The study group consisted of children, aged between 8 and 18 years and with a diagnosis of epilepsy of at least six months duration and their parents. Pediatric Quality of Life Inventory (PedsQL), Child-Parent Stigma Scales, and the Seizure Self-Efficacy Scale for Children (SSES-C) were used for evaluation. RESULTS: One hundred and forty-four children (mean age 12.6 ± 2.9 years) took part, of whom 48.6% were female. The mean Child Stigma Scale score was 1.77 ± 0.82, Parent Stigma Scale score 2.41 ± 0.75, SSES-C score was 3.37 ± 0.98, and PedsQL score was 72.8 ± 18.6 for children self-reports (CsR) and 73.2 ± 18.8 for parent proxy-reports. The intraclass correlation coefficient for parent-child PedsQL indicated a good level of agreement. There was a significant negative correlation between the Child Stigma Scale and the PedsQL-CsR scores. A significant positive correlation was identified between the SSES-C scores and the PedsQL-CsR scores. DISCUSSION: Perceptions of stigma in children with epilepsy and their parents were high in this study population. Of note, the elevated stigma perception reported by the patients had a detrimental impact on seizure self-efficacy. This relationship may affect the children's QoL and further complicates epilepsy management in this patient group.

Posttraumatic epilepsy in critically ill children with traumatic brain injury.

PURPOSE: The aim of this study was to determine the clinical, laboratory, and radiological factors related with posttraumatic epilepsy (PTE). METHODS: The study is a multicenter descriptive cross-sectional cohort study. Children who followed up for TBI in the pediatric intensive care unit between 2014 and 2021 were included. Demographic data and clinical and radiological parameters were recorded from electronic case forms. All patients who were in the 6-month posttraumatic period were evaluated by a neurologist for PTE. RESULTS: Four hundred seventy-seven patients were included. The median age at the time of trauma was 66 (IQR 27-122) months, and 298 (62.5%) were male. Two hundred eighty (58.7%) patients had multiple traumas. The mortality rate was 11.7%. The mean duration of hospitalization, pediatric intensive care unit hospitalization and mechanical ventilation, Rotterdam score, PRISM III score, and GCS at admission were higher in patients with epilepsy (p < 0.05). The rate of epilepsy was higher in patients with severe TBI, cerebral edema on tomography and clinical findings of increased intracranial pressure, blood transfusion in the intensive care unit, multiple intracranial hemorrhages, and intubated patients (p < 0.05). In logistic regression analysis, the presence of intracranial hemorrhage in more than one compartment of the brain (OR 6.13, 95%CI 3.05-12.33) and the presence of seizures (OR 9.75, 95%CI 4.80-19.83) were independently significant in terms of the development of epilepsy (p < 0.001). CONCLUSIONS: In this multicenter cross-sectional study, intracranial hemorrhages in more than one compartment and clinical seizures during intensive care unit admission were found to be independent risk factors for PTE development in pediatric intensive care unit patients with TBI.

Serum endocan levels in patients with habitual abortion.

AIM: The aim of this study was to investigate whether there is a new factor in the etiology of recurrent loss of pregnancy. For this purpose, serum malondialdehyde (MDA) and nitric oxide (NO) levels as indicators of oxidative stress, and endocan levels, a marker of vascular dysfunction, were investigated in patients diagnosed with habitual abortion. MATERIALS AND METHODS: The research was conducted as a prospective case-control study. Patients aged 18-40 years with two or more consecutive pregnancy losses revealed by ultrasonographic or histopathological examination, and with no pathology capable of causing habitual abortion were included in the study group. Patients with no history of abortion, with at least one healthy pregnancy, who were planning pregnancies, and who presented to the outpatient clinic for routine prepregnancy tests were selected as the control group. Two groups were established-habitual abortion (n = 30) and control (n = 29). At the end of the menstrual cycle, blood samples were collected and centrifuged. Serum NO, MDA, and endocan levels were studied. RESULTS: Serum endocan, NO, and MDA levels were higher in women with habitual abortion compared to healthy controls. Pearson's correlation analysis revealed a positive correlation between serum endocan levels and NO and MDA levels. A positive correlation was also observed between serum MDA and NO levels. Multiple regression was run to predict serum endocan levels from MDA and NO levels. These variables emerged as statistically significant predictors of endocan. CONCLUSION: These findings suggest the presence of vascular endothelial dysfunction in patients with habitual abortion.

The effect of coronavirus disease 2019 on anxiety levels of children with cystic fibrosis and healthy peers.

BACKGROUND: Cystic fibrosis (CF) is a chronic disease causing recurrent respiratory tract infections. Viral respiratory tract infections are more severe in CF. The first case of coronavirus disease 2019 (COVID-19) was seen in Turkey on March 11, 2020, and nationwide school closure and lockdown were implemented. School closure and home confinement might have adverse effects on children's physical and mental health. In this study, we aimed to compare the effect of the COVID-19 pandemic on psychological reactions of CF patients and healthy controls. METHODS: This is a controlled cross-sectional study including 7-18-year-old children with CF. The survey included questions regarding family environment and peer relations, self-care, and psychological reactions to the COVID-19 pandemic. The questionnaire was administered to children via telephone calls under parental supervision. RESULTS: We evaluated 132 CF patients and 135 of their healthy peers. Mean age was 11.5 ± 2.9 years in the CF group and 11.8 ± 3.2 years in the control group (P = 0.98). There were 55 girls (41.7%) in the CF group and 81 girls (60%) in the control group (P = 0.027). The socioeconomic status of their families was similar. The CF patients were found to be less anxious for family members at risk of COVID-19, less upset about school closure, and less anxious about the COVID-19 pandemic (P < 0.001, 0.02, 0.01, respectively). CONCLUSIONS: Cystic fibrosis patients seem to show more resilience in coping with the pandemic. Appropriate psychological support should be provided to them and resilience strategies in coping with the pandemic should be nurtured.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.0-49.3 years). While the mean age at symptom onset was 0.8 ± 0.6 years [standard deviation (SD), range 0.2-5.0], the mean age at diagnosis was 10.2 ± 8.5 years (SD, range 0.1-46.3). We define a set of core features: early-onset developmental delay with delayed motor milestones and significant speech delay (50% non-verbal); intellectual disability in the moderate to severe range; mild hypotonia in infancy followed by spastic diplegia (mean age: 8.4 ± 5.1 years, SD) and later tetraplegia (mean age: 16.1 ± 9.8 years, SD); postnatal microcephaly (83%); foot deformities (69%); and epilepsy (66%) that is intractable in a subset. At last follow-up, 36% ambulated with assistance (mean age: 8.9 ± 6.4 years, SD) and 54% were wheelchair-dependent (mean age: 13.4 ± 9.8 years, SD). Episodes of stereotypic laughing, possibly consistent with a pseudobulbar affect, were found in 56% of patients. Key features on neuroimaging include a thin corpus callosum (90%), ventriculomegaly (65%) often with colpocephaly, and periventricular white-matter signal abnormalities (68%). Iron deposition and polymicrogyria were found in a subset of patients. AP4B1-associated SPG47 and AP4M1-associated SPG50 accounted for the majority of cases. About two-thirds of patients were born to consanguineous parents, and 82% carried homozygous variants. Over 70 unique variants were present, the majority of which are frameshift or nonsense mutations. To track disease progression across the age spectrum, we defined the relationship between disease severity as measured by several rating scales and disease duration. We found that the presence of epilepsy, which manifested before the age of 3 years in the majority of patients, was associated with worse motor outcomes. Exploring genotype-phenotype correlations, we found that disease severity and major phenotypes were equally distributed among the four subtypes, establishing that SPG47, SPG50, SPG51 and SPG52 share a common phenotype, an 'AP-4 deficiency syndrome'. By delineating the core clinical, imaging, and molecular features of AP-4-associated hereditary spastic paraplegia across the age spectrum our results will facilitate early diagnosis, enable counselling and anticipatory guidance of affected families and help define endpoints for future interventional trials.

The effect of copper intrauterine device use duration on uterine and ovarian blood flow parameters: A prospective cross-sectional study.

PURPOSE: This prospective cross-sectional study aimed to compare uterine and ovarian arterial Doppler signals in regularly menstruating patients who had been using copper intrauterine devices (IUD) for different durations. METHODS: Four groups of participants were formed (n = 30 for each) depending on the duration of copper IUD use: less than 1 year (group 1), 1 to 3 years (group 2), and over 3 years (group 3). Women without IUDs formed the control group. All participants were called in on the fifth-eighth days of their menstrual cycle for Doppler blood flow assessment. The pulsatility index (PI) and resistance index (RI) values were recorded in uterine and ovarian arteries. RESULTS: The groups 2 and 3 had significantly higher uterine artery PI and RI values than groups 1 and 4. Furthermore, group 2 had uterine and ovarian artery PI and RI values similar to those of group 3. There was a positive relationship between uterine and ovarian arteries' PI and RI values with the duration of IUD use. CONCLUSIONS: The presence of an IUD for over a year seems to cause changes in the uterine artery PI and RI values assessed by Doppler ultrasonography.

Combined spinal epidural anesthesia in obese parturients undergoing cesarean surgery : A single-blinded randomized comparison of lateral decubitus and sitting positions.

BACKGROUND: There is a significant increase in number of obese pregnant women worldwide. Obese parturients undergoing cesarean section have a higher risk for hypotension and require higher doses of vasopressors following spinal anesthesia compared to nonobese parturients. OBJECTIVE: This study aimed to compare the maternal hemodynamic changes when combined spinal-epidural anesthesia (CSEA) is induced in the left lateral decubitus and sitting positions in obese pregnant women undergoing elective cesarean section. MATERIAL AND METHODS: In this study, pregnant women with full-term gestation diagnosed as obese undergoing elective cesarean section were included. Two groups were formed: the CSEA was performed in left lateral position in group I (n = 50) and in sitting position in group II (n = 50). At the end of the CSEA procedure, patients were placed in the supine position. When the sensory block reached at the upper level of T6 dermatome, surgery was initiated. Hemodynamic, anesthetic and neonatal parameters were recorded. RESULTS: In all patients, CSEA was successful and sufficient anesthesia was provided for surgery. Time to reach T6 dermatome sensory level in group II was found to be longer than group I (P = 0.011). At 20 min after spinal injection, the maximum sensory block level was similar in both groups. There were no significant differences between groups in terms of sensory block time and the time to requiring postoperative supplemental analgesics. There were no significant differences in terms of the volume of intravenous fluid administered, ephedrine and atropine requirements between groups. Both groups had similar systolic blood pressure, heart rate and oxygen saturation values during surgery and postoperatively. While both groups had similar diastolic blood pressure (DBP) values during surgery and at the 1st postoperative hour, group II had lower DBP values at the 2nd postoperative hour compared with group I (P = 0.04). CONCLUSION: Left lateral decubitus and sitting positions during performance of CSEA lead to similar maternal hemodynamic changes in obese pregnant women undergoing cesarean section.

Serum heme oxygenase-1 levels in patients with primary dysmenorrhea.

PURPOSE: Primary dysmenorrhea effects the life-quality of women negatively. The aim of this study was to evaluate heme oxygenase-1 (HO1) activity together with malondialdehyde (MDA) and nitric oxide (NO) levels in patients with primary dysmenorrhea. METHODS: A total of 28 nulliparous women with the diagnosis of primary dysmenorrhea and 26 healthy controls were included in this study. On the first day of menstruation, all patients underwent ultrasound examination to exclude pelvic pathology and the visual analogue scale was applied to patients. Patient's visual analogue scale (VAS) scores, age, body mass index (BMI), menstrual cycle length (day), length of bleeding (day) were recorded. In the same day, fasting blood samples were taken from each patient for biochemical analysis. RESULTS: Serum MDA, NO and HO1 levels were found to be higher in women with primary dysmenorrhea compared to healthy controls (p = 0.012, p = 0.009, p < 0.001, respectively). There were no correlation among serum levels of HO1, NO and MDA, age, BMI, cycle length, pain score and menses duration in both groups. In Pearson's correlation analysis, positive correlation was found between HO1 levels with the NO levels (r = 0.316, p < 0.05) and VAS scores (r = 0.520, p < 0.01). Also, positive correlation was found between MDA levels and VAS scores (r = 0.327, p < 0.05). CONCLUSIONS: Serum HO1, NO and MDA levels increase in patients with primary dysmenorrhea. Antioxidant support might be helpful to reduce pain severity in primary dysmenorrhea.

Effect of colchicine on polycystic ovary syndrome: an experimental study.

PURPOSE: To investigate whether there is any therapeutic effect of colchicine on a rat model of polycystic ovary syndrome (PCOS). METHODS: Twenty-two Wistar-Albino rats were randomly assigned into four with 8 rats in each group: control group; PCOS only group; PCOS-metformin group and PCOS-colchicine group. PCOS was induced by gavage with letrozole once daily at the concentration of 1 mg/kg orally with 21 consecutive days. After PCOS model assessment, PCOS-metformin group was received metformin orally with 500 mg/kg and PCOS-colchicine group was received colchicine orally with 1 mg/kg for the 35 day. Histopathology of ovaries, circulating estrone (E1), estradiol (E2), total testosterone, androstenedione and c-reactive protein (CRP) levels were evaluated. RESULTS: cystic and atretic follicle number was significantly decreased, but CRP and hormone parameters were not significantly changed with colchicine treatment. CONCLUSION: Colchicine has provided histopathological improvement compared with metformin in PCOS rat model.

A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a chronic infection of the central nervous system caused by the measles virus (MV). Its prevalence remains high in resource poor countries and is likely to increase in the Northern Europe as vaccination rates decrease. Clinical knowledge of this devastating condition, however, is limited. We therefore conducted this multinational survey summarizing experience obtained from more than 500 patients treated by 24 physicians in seven countries. SSPE should be considered in all patients presenting with otherwise unexplained acquired neurological symptoms. In most patients, the diagnosis will be established by the combination of typical clinical symptoms (characteristic repetitive myoclonic jerks), a strong intrathecal synthesis of antibodies to MV and typical electroencephalogram findings (Radermecker complexes). Whereas the therapeutic use of different antiviral (amantadine, ribavirin) and immunomodulatory drugs (isoprinosine, interferons) and of immunoglobulins has been reported repeatedly, optimum application regimen of these drugs has not been established. This is partly due to the absence of common diagnostic and clinical standards focusing on neurological and psychosocial aspects. Carbamazepine, levetiracetam, and clobazam are the drugs most frequently used to control myoclonic jerks. We have established a consensus on essential laboratory and clinical parameters that should facilitate collaborative studies. Those are urgently needed to improve outcome.

The Effect of Controlled Reperfusion in the Prevention of Infertility Caused by Ischemia Induced in the Contralateral Ovary in Rats with Unilateral Ovariectomy.

BACKGROUND/AIMS: To investigate the effectiveness of controlled reperfusion (CR) on ovarian tissue malondialdehyde, total glutathione and 8-hydroxyguanine levels and infertility rates in a rat model of induced ischemia-reperfusion (I/R) injury with unilateral oophorectomy. METHODS: A total of 135 adult female albino Wistar rats were divided into 9 groups (n = 15 for each group): unilateral ovariectomy + ovarian I/R (OIR), unilateral ovariectomy alone (OEG), a sham operation group (SG), and unilateral ovariectomy + CR performed at different intervals (the clips were released 10 times for 10, 8, 6, 4, 2 or 1 s and closed again 10 times for 10, 8, 6, 4, 2 or 1 s; OCR-1-6, respectively). Five rats from each group were sacrificed, and their ovaries were removed. RESULTS: Higher ovarian tissue malondialdehyde and 8-hydroxyguanine levels and lower ovarian tissue total glutathione levels were found in the OIR group compared with the SG, OEG and OCR-4-6 groups. The number of rats giving birth during the study period was found to be similar among the SG (n = 8), OEG (n = 8) and OCR-6 (n = 7) groups. CONCLUSION: These results suggest that sterility and ovarian oxidative stress caused by I/R injury decreases in parallel to the shortening of CR duration.

The role of antioxidant activity in the prevention and treatment of infertility caused by Cisplatin in rats.

BACKGROUND/AIMS: To investigate the importance of antioxidant activity in infertility caused by cisplatin in rats. METHODS: Rats in cisplatin control (CG), Vitamin E + cisplatin (ECG), Vitamin C + cisplatin (CCG), Hippophae rhamnoides extract (HRE) + cisplatin (HRECG), and thiamine pyrophosphate (TPP) + cisplatin (TPPCG) groups were injected intraperitoneally (ip) with (100 mg/kg) Vitamin E, Vitamin C, HRE, and TPP, respectively. One hour later, ip cisplatin was administered (5 mg/kg), and then antioxidant medications were continued for 10 days. Cisplatin + Vitamin E (CEG-1), cisplatin + Vitamin C (CCG-1), cisplatin + HRE (CHREG-1), and cisplatin + TPP (TPPCG-1) rats received cisplatin (5 mg/kg, ip) and were kept for 10 days. At the end of that period, rats received antioxidant medications for 10 days. (n = 12, for each group). Six rats from each group were sacrificed. Ovaries were removed to measure malondialdehyde, total glutathione, glutathione S-transferase, and glutathione reductase levels. The remaining rats were kept in a suitable laboratory environment. RESULTS: Cisplatin-induced oxidative stress was best prevented by HRE, Vitamin E, Vitamin C, and TPP, in that order. However, infertility caused by cisplatin was only prevented and treated by TPP. CONCLUSION: Oxidative stress is not a major component in the pathogenesis of cisplatin-associated infertility.

Sildenafil reduces ischemia-reperfusion injury in rat ovary: biochemical and histopathological evaluation.

BACKGROUND/AIMS: To evaluate the effects of sildenafil on antioxidant enzyme activities, lipid peroxidation and histopathological changes in ovarian tissue after ischemia-reperfusion (I/R) injury in a rat model. METHODS: A total of 18 adult female Wistar albino rats weighing 200-250 g were studied as follows: (1) control group: sham operation, (2) I/R group: 3 h of reperfusion after 3 h of ischemia and (3) I/R + sildenafil group: 3 h of reperfusion after 3 h of ischemia; half an hour before reperfusion, sildenafil (1.4 mg·kg(-1)) was given by oral gavage. At the end of the reperfusion periods, the ovarian tissues were removed for histopathological examination and to determine malondialdehyde (MDA) levels and glutathione peroxidase, myeloperoxidase (MPO) and superoxide dismutase (SOD) activities. RESULTS: The I/R group had higher ovarian tissue MDA levels than the control group and the IR + sildenafil group (p = 0.016 and p = 0.044, respectively). MPO activity was lower in the IR + sildenafil group compared with the I/R group (p = 0.022). SOD activity was lower in the I/R group compared with the control group and the I/R + sildenafil group (p = 0.030 and p = 0.015, respectively). The I/R + sildenafil group had improved histological appearance which was not different to the control group (p > 0.05). CONCLUSION: The biochemical and histopathological results of this experimental study demonstrated that I/R injury in the ovary is ameliorated by sildenafil treatment.

Evaluation of the efficacy of Fructus agni casti in women with severe primary dysmenorrhea: a prospective comparative Doppler study.

AIM: The aim of this case-control study was to compare the efficacy of ethinyl estradiol/drospirenone and Fructus agni casti in women with severe primary dysmenorrhea measuring uterine artery blood flow via Doppler ultrasonography. METHODS: A total of 60 women with severe primary dysmenorrhea and 30 healthy women (control) were included in this study. Thirty patients were treated with ethinyl estradiol 0.03 mg/drospirenone (group 1) and another 30 were treated with Fructus agni casti (group 2) during three menstrual cycles. Before and at the end of third month of therapy visual analog scale (VAS) scores, pulsatility index (PI), resistance index (RI) of uterine artery were recorded before and after receiving therapy on the first day of the menstrual cycle. RESULTS: Mean PI and RI values in patients with severe primary dysmenorrhea were significantly higher than in the control groups on the first day of the menstrual cycle (P < 0.0001). Mean PI and RI values were significantly lower after the treatment in both groups compared to before values (P < 0.001 for both). After using the drugs for three menstrual cycles, VAS scores were significantly dropped in both groups compared to before treatment values (P < 0.0001 for both); however, there were no significant differences in terms of Doppler findings between group 1 and 2. CONCLUSION: The effectiveness of Fructus agni casti was similar to that of ethinyl estradiol/drospirenone in patients with primary dysmenorrhea.

Physiological and psychological determinants of long-term diet-induced type 2 diabetes (T2DM) remission: A narrative review.

Type 2 diabetes mellitus (T2DM) is a highly prevalent metabolic disease, causing a heavy burden on healthcare systems worldwide, with related complications and anti-diabetes drug prescriptions. Recently, it was demonstrated that T2DM can be put into remission via significant weight loss using low-carbohydrate diets (LCDs) and very low-energy diets (VLEDs) in individuals with overweight and obesity. Clinical trials demonstrated remission rates of 25-77%, and metabolic improvements such as improved blood lipid profile and blood pressure were observed. In contrast, clinical trials showed that remission rate declines with time, concurrent with weight gain, or diminished weight loss. This review aims to discuss existing literature regarding underlying determinants of long-term remission of T2DM including metabolic adaptations to weight loss (e.g., role of gastrointestinal hormones), type of dietary intervention (i.e., LCDs or VLEDs), maintaining beta (ß)-cell function, early glycemic control, and psychosocial factors. This narrative review is significant because determining the factors that are associated with challenges in maintaining long-term remission may help in designing sustainable interventions for type 2 diabetes remission.

The role of certain perinatal features in the early motor repertoire of infants.

BACKGROUND: Lower gestational age negatively affects the neurodevelopmental outcomes of infants. Early motor repertoire is a reliable way to predict neurodevelopmental outcomes. This study aimed to determine the correlation between gestational age and early motor repertoire in infants and also the roles of multiple pregnancies, gender, cranial utrasonography (USG) results, and birth weight in this relationship. METHODS: This study included 139 infants, who were video recorded 9-17 weeks post-term. The recordings were evaluated using the Motor Optimality Score-Revised (MOS-R). Structural equation modeling tool was used for the path analysis of the models. RESULTS: There was a weak positive correlation between gestational age and the MOS-R. In the relationship between gestational age and the MOS-R, multiple pregnancies, gender, and USG outcomes had a moderating effect. While abnormal USG, male gender, and singleton pregnancy increased this correlation to a moderate level, normal USG reduced the strength of the correlation. Female and twin pregnancies were non-significant in the model. Birth weight had a full mediating effect on the relationship between gestational age and the MOS-R. CONCLUSIONS: Infants with younger gestational age or lower birth weight, male infants, and infants with problems on cranial USG may have poorer early motor repertoire.

Hyperekplexia: A Single-Center Experience.

BACKGROUND: Hyperekplexia is a rare neurogenetic disorder that is classically characterized by an exaggerated startle response to sudden unexpected stimuli. This study aimed to determine clinical and genetic characteristics of our patients with hyperekplexia. METHODS: The age of onset and diagnosis, familial and perinatal history, clinical course, complications, metabolic screening tests, magnetic resonance imaging (MRI), medications, neuropsychometric evaluations, and gene mutations of patients diagnosed with hyperekplexia were reviewed retrospectively. RESULTS: All hyperekplexia patients had displayed neonatal excessive startle response and muscle stiffness, which we accepted as the major form of the disorder. Sixteen patients had mutations in genes associated with hyperekplexia. The ages at clinical diagnosis and genetic confirmation ranged from newborn to 16 years old and from 2.5 to 19 years, respectively. Nine patients (56.25%) were initially misdiagnosed with epilepsy. Seven patients (43.75%) carried a diagnosis of intellectual disability, defined here as a total IQ <80. Delayed gross motor development was detected in 4 patients (25%), and speech delay was reported in 3 (18.75%). Mutations in GLRA1 (NM_000171.4) and SLC6A5 (NM_004211.5) were identified in 13 (81.25%) and 3 patients (18.75%), respectively. Fifteen of the 16 patients (93.75%) showed autosomal recessive inheritance. Only 1 patient (6.25%) showed autosomal dominant inheritance. CONCLUSION: Although hyperekplexia is a potentially treatable disease, it can be complicated by delayed speech and/or motor acquisition and also by intellectual disability. This study shows that hyperekplexia is not always a benign condition and that all patients diagnosed with hyperekplexia should be evaluated for neuropsychiatric status and provided with genetic testing.