Annals of Indian Academy of Neurology最新文献

Background and objectives: Accurate identification of the seizure type and prompt initiation of appropriate treatment are crucial in reducing the morbidity and mortality associated with epilepsy. In this observational study, our objective was to develop a questionnaire-based tool to assist in recognizing seizure types based on the International League Against Epilepsy (ILAE) 2017 classification system. Additionally, the study assessed the level of agreement between pediatric neurologists (PNs) and this tool.

Methods: Six additional questions were added to the existing, validated AIIMS modified International Clinical Epidemiology Network diagnostic instrument for epilepsy. These questions were designed to encompass all seizure types outlined in the ILAE 2017 classification scheme. Two pediatric postgraduate residents (PGs) and four undergraduate interns were trained to classify seizures using the tool. The classification of seizure semiology by PGs and undergraduate interns was performed verbatim using the tool. PNs used their clinical experience for seizure classification and served as the gold standard for comparison. The seizure classification by the tool was compared with the classification of three pediatric PNs using kappa agreement.

Results: A total of 144 children (97 males) with confirmed epilepsy were enrolled. The kappa agreement between PGs and PNs was 0.52 at the first level (broad categorization of seizure type as per the ILAE classification) and 0.28 at the second level (detailed categorization of seizure type as per the ILAE classification). Between interns and PNs, the kappa agreement was 0.45 at the first level and 0.30 at the second level.

Conclusions: The tool is appropriate for the broad classification of seizures into generalized, focal, multiple, and unclassified seizure types. However, for detailed seizure classification as per the ILAE 2017 classification, more extensive training may be required.

The neurocutaneous syndrome of infantile B12 deficiency, also called the "infantile tremor syndrome," is reported mainly from India. Typically, the child of a vegetarian mother who breastfeeds presents with developmental delay, regression of milestones, and tremors. The baby typically appears chubby, has sparse hypopigmented hair, and hyperpigmentation on the dorsum of the hands, feet, and other parts of the body. We share our observations in five children with akinesis and the typical features of severe infantile vitamin B12 deficiency. After initiating therapy with injectable vitamin B12, the children showed rapid recovery of movements in the first two weeks. The recovery went through a phase of generalized rigidity in two children. We postulate that the state of akinesis, or pseudoparalysis, is secondary to energy depletion of the basal ganglia. The basal ganglia, one of the regions with high metabolic rates, appear to be selectively vulnerable to vitamin B12 deficiency.

Background and objectives: Mirror movements (MMs) are involuntary movements produced by the contralateral homologous muscles during voluntary activity. MMs have been observed in age-related neurological movement disorders, including Parkinson's disease (PD), but they are not widely recognized. This study described the frequency and clinical features of MMs in PD patients from a tertiary care center in Eastern China.

Methods: A total of 140 PD patients were evaluated using a standardized videotaping protocol. A clinical scale was used to compare the amplitude, distribution, and proportion of mirroring between the suspended and supported positions. Classic motor and nonmotor symptoms (NMS), including rapid eye movement sleep behavior disorder (RBD), constipation, and hyposmia, were compared between patients with and without MMs. The relationship between MMs and the Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) motor score was also explored.

Results: MMs were more pronounced when the less affected limb was suspended. In total, 82 of the 140 (58.6%) PD patients exhibited MMs. There were no significant differences in age, disease duration, age at disease onset, gender, Hoehn and Yahr score, prevalence rates of RBD, constipation, and hyposmia, or MDS-UPDRS tremor, rigidity, and bradykinesia scores between PD patients with and without MMs. The unilateral MM score was positively correlated with the contralateral limb MDS-UPDRS motor score and negatively correlated with the ipsilateral limb MDS-UPDRS motor score.

Conclusions: MMs are common in PD, and suspending the limb is recommended to detect MMs. Further studies are needed to investigate changes in MMs with disease progression and their association with NMS.

Abstract: Bethlem myopathy (BM) represents the milder phenotype of collagen type VI-related myopathies. We report a young male with a striking family history who presented with progressive proximal myopathy, distal joint contractures, and a unique presentation of calf hypertrophy who tested positive for a novel genetic variant in the COL6A1 gene.

Abstract: Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, caused by de novo mutations in ABCC8 / KCNJ11 genes encoding Adenosine Triphosphate (ATP)-sensitive potassium channels, is an unusual cause of infantile-onset developmental/epileptic encephalopathy. Here, we report the long-term seizure and neurodevelopmental outcomes of three children with pathogenic variants in ABCC8 / KCNJ11 genes and the phenotypic spectrum of DEND syndrome. Genetic confirmation was followed by an immediate therapeutic switch from insulin to sulfonylurea in all three children. At the last visit, all these children had good seizure control. However, all of them had residual neurodevelopmental impairments of varying clinical severity. Further large-scale, prospective, multicenter cohorts might be needed to clearly estimate the effect of early initiation of sulphonylurea on long-term seizure and neurodevelopmental outcomes of this rare syndrome.

Background and objective: To compare the clinical features and consequences of self-limited epilepsy with centrotemporal spikes (SeLECTS) between two age groups by the consideration of a pediatric cohort.

Methods: Patient data and follow-up observations of children with SeLECTS were documented between 2012 and 2023. Clinical profiles, electrocephalogram (EEG) patterns, and treatment details of the children diagnosed with SeLECTS were retrospectively examined and analyzed in two separate groups based on age at diagnosis.

Results: A group of 198 patients with SeLECTS was included. The study group was divided into two subgroups as the group under age 5 (n = 54) and the group over age 5 (n = 144). The number of antiepileptics needed for seizure control ( P = 0.041) and the need for more than one antiepileptic ( P = 0.02) were found to be higher, with statistical significance, in the group younger than 5 years old. Moreover, the duration of control of seizures ( P < 0.001) and recovery of EEG was longer ( P < 0.001) in the group younger than 5 years. Electrical status epilepticus in slow-wave sleep emerged in four patients, and findings revealed that all of these patients were in the group over the age of 5.

Conclusions: SeLECTS patients diagnosed under the age of 5 experience a longer duration to achieve seizure control and EEG normalization. Additionally, these patients often require a greater number of antiepileptic medications for effective seizure management.