Introduction: A number of studies have proved the effectiveness and safety of botulinum toxin in therapeutic doses.
Aim: To analyse the results obtained over a 12-year period in which botulinum toxin type A (BTA) was used to treat infantile cerebral palsy (CP).
Patients And Methods: Of a total number of 547 patients who were treated, 515 had CP, 464 with spasticity, 46 with mixed CP and 5 with dyskinetic CP with focal dystonia.
Results: Overall evaluation of BTA is positive, both as regards its beneficial effects and its safety: tone was mildly improved in 18.5% of patients, with no change in motor functioning, 39% showed a moderate improvement, 19% a marked improvement and 5.6% experienced a marked and prolonged improvement. Forty-two patients (8.15%) presented side effects, the most common being weakness in the lower limbs, which occurred in 21 cases.
Conclusions: BTA is a good therapeutic option for treating children with CP, not only for the focal involvement but also as palliative treatment in children with diffuse involvement.
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Children (Basel)
December 2024
Division of Pediatric Neurology, Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Infantile spasms are common in Down Syndrome (DS), but the mechanisms by which DS predisposes to this devastating epilepsy syndrome are unclear. In general, neuronal excitability and therefore seizure predisposition results from an imbalance of excitation over inhibition in neurons and neural networks of the brain. Animal models provide clues to mechanisms and thereby provide potential therapeutic approaches.
View Article and Find Full Text PDFGenes (Basel)
November 2024
Unit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qari 3007500, Israel.
Background/objectives: Biallelic mutations in the gene are associated with a rare genetic disease known as infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). In this study, we describe a new case carrying a previously identified mutation, provide an updated analysis of the relative frequencies of the clinical features across all published cases (including the three latest studies), and perform a bioinformatics analysis of the newly identified PTRH2 protein variants from a structural perspective.
Methods: Clinical examination of the patients was carried out, and genetic testing was performed using a genome sequencing strategy.
Clin Genet
January 2025
Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in either condition.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Division of Pediatric Epileptology, Department of Pediatrics I, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760-1:13,520 live births in Germany. On the molecular level, TSC is caused by heterozygous loss-of-function variants in either of the genes TSC1 or TSC2, encoding the Tuberin-Hamartin complex, which acts as a critical upstream suppressor of the mammalian target of rapamycin (mTOR), a key signaling pathway controlling cellular growth and metabolism. Despite the therapeutic success of mTOR inhibition in treating TSC-associated manifestations, studies with mTOR inhibitors in children with TSC above two years of age have failed to demonstrate beneficial effects on disease-related neuropsychological deficits.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate (Milan), 20054, Italy.
The CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, motor and visual dysfunctions. The causative gene is CDKL5, which codes for a kinase required for brain development. There is no cure for CDD patients; treatments are symptomatic and focus mainly on seizure control.
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