Infantile spasms: review of the literature and personal experience.

Ital J Pediatr

Institute of Clinical Pediatrics, University of Siena, Siena, Italy.

Published: February 2010

This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject.The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic aspects.Early diagnosis is of paramount importance in order to obtain even complete results in patients with so called idiopathic situations. A number of problems are still to be solved. There is no agreement on the type and the schedule of treatment. A common denominator about this problem is not jet available even if some advances in this regard have been accomplished. Of paramount importance is an accurate clinical and laboratory examination as a prerequisite regarding prognosis and results of therapy in every single case.However, even if more than 170 years have elapsed since the first communication of dr. West on the peculiar syndrome that his child was suffering of, the interest of scientists on this subject has now been enriched and rewarded.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829573PMC
http://dx.doi.org/10.1186/1824-7288-36-15DOI Listing

Publication Analysis

Top Keywords

infantile spasms
4
spasms review
4
review literature
4
literature personal
4
personal experience
4
experience epileptic
4
epileptic disorder
4
disorder classic
4
classic topic
4
topic neuropediatricians
4

Similar Publications

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 PDF

Background: Infantile spasms syndrome is a severe form of infantile epilepsy. It is commonly treated with hormonal therapies or vigabatrin, either alone or in combination. This study aimed to assess the efficacy of these treatment modalities and explore associations with aetiology, and pre-existing developmental delay.

View Article and Find Full Text PDF

Engineered tRNAs efficiently suppress CDKL5 premature termination codons.

Sci 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.

View Article and Find Full Text PDF

Purpose: This study aimed to elucidate the distribution of intracranial gamma-aminobutyric acid (GABA) receptors in patients with infantile epileptic spasms syndrome (IESS) of normal brain MRI findings using I-iomazenil single-photon emission computed tomography (IMZ-SPECT).

Methods: This retrospective study compared IMZ-SPECT images from 20 patients with IESS of unknown etiology with normal brain MRI (unknown IESS group) and 23 patients with developmentally normal epilepsy of the same age (developmentally normal group). A three-dimensional stereotactic region of interest (ROI) template was used to divide the brain into 24 segments (left and right callosomarginal, precentral, central, parietal, angular, temporal, posterior cerebral, pericallosal, lenticular nucleus, thalamus, hippocampus, and cerebellum), and the mean accumulation of I-iomazenil in each ROI was calculated.

View Article and Find Full Text PDF

Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.

Ann Med

December 2025

Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, Alcorcón, Spain.

Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.

Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!