The applicability of magnetic resonance imaging classification system (MRICS) for cerebral palsy and its association with perinatal factors and related disabilities in a Croatian population-based sample.

AIM: To investigate the association of cerebral palsy motor disorders, perinatal factors, and related disabilities with brain magnetic resonance imaging classification score (MRICS)-based groups in a population-based sample. METHODS: The study enrolled children with cerebral palsy born from 2003 to 2015 treated at Split University Hospital who underwent brain MRI scanning. Perinatal data (plurality, birth weight, gestational age, and Apgar score) were collected from hospital records. Motor disorders of cerebral palsy (gross and fine motor function) and the related disabilities (intellectual status, speech and eating ability, epilepsy, vision and hearing status) were evaluated with neurological status assessment. Neuroimaging findings were presented as MRICS-based groups. RESULTS: Of 115 enrolled children, an abnormal finding on brain MRI was confirmed in 95%, including white matter injury (66%), maldevelopments (13.9%), gray matter injury (9.6%), and miscellaneous findings (6.1%). Gross and fine motor function were not significantly associated with MRICS-based group. All related disabilities and perinatal factors, except Apgar score, were significantly associated with MRICS-based group. CONCLUSION: Brain MRICS-based groups were associated with perinatal risk factors and related disabilities of cerebral palsy, but not with common motor disorders. MRI classification score is a reliable diagnostic tool, which strongly correlates with perinatal factors and related disabilities of cerebral palsy.

Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy.

AIM: To test the association of NOS3 gene with hypoxic-ischemic encephalopathy (HIE). METHODS: The study included 110 unrelated term or preterm born children (69 boys and 41 girls) with HIE and 128 term and preterm born children (60 boys and 68 girls) without any neurological problems after the second year of life. Children with perinatal HIE fulfilled the diagnostic criteria for perinatal asphyxia. All children were admitted to the Clinical Hospital Split between 1992 and 2008. We analyzed 6 tagging single nucleotide polymorphisms (SNP) within NOS3 gene (rs3918186, rs3918188, rs1800783, rs1808593, rs3918227, rs1799983), in addition to previously confirmed NOS3-associated SNP rs1800779. Genotyping was conducted using real-time polymerase chain reaction (PCR). Association analyses were performed according to allelic and genotypic distribution. RESULTS: Allelic test did not show any SNP association with HIE. SNP rs1808593 showed genotype association (P=0.008) and rs1800783-rs1800779 TG haplotype showed an association with HIE (P<0.001). The study had 80% statistical power to detect (α=0.05) an effect with odds ratio (OR)=2.07 for rs3918186, OR=1.69 for rs3918188, OR=1.70 for rs1800783, OR=1.80 for rs1808593, OR=2.10 for rs3918227, OR=1.68 for rs1800779, and OR=1.76 for rs1799983, assuming an additive model. CONCLUSION: Despite the limited number of HIE patients, we observed genotypic and haplotype associations of NOS3 polymorphisms with HIE.

West syndrome with periventricular leukomalacia: ten-year clinical study.

The aim of the study was to evaluate magnetic resonance imaging (MRI) findings in infants with periventricular leukomalacia (PVL) and West syndrome (WS) and determine the neurodevelopmental outcome in children with West syndrome and PVL. Ultrasound and brain MRI were performed in 37 infants with recognized PVL. PVL was categorized according to De Vries, whereas West syndrome was categorized according to International League Against Epilepsy 1989. West syndrome in our patients developed during the first 2 years of life. The most common interictal abnormality was hypsarrhythmia. All, except two patients had delayed development and various degrees of mental retardation. The most characteristic neuroimaging findings were major reduction in cerebral cortical gray matter volume, reduction in the volume of brain myelin, and delayed myelination. These findings may explain the anatomical association between the West syndrome onset and PVL and intellectual and cognitive deficit in premature infants with PVL.

Neurodevelopmental outcome in children with periventricular leukomalacia.

The purpose of this study was to question the correlation of different grades of periventricular leukomalacia (PVL) and subsequent neurodevelopmental outcome. In a prospective study we followed 52 preterm infants. Infants were divided into three groups according to their cranial ultrasound findings of PVL (De Vries classification). Seventeen children had PVL 1, 20 children had PVL 2, and 15 children had PVL 3. All 15 (100%) children with PVL 3 developed cerebral palsy with additional visual perceptual dysfunctions and epilepsy. Children with PVL 1 had high frequency of mild neuromotoric delay and visual impairment. PVL 2 and 3 have great predictive value for subsequent severe neurodevelopmental disorder which refers to cerebral palsy, different cognitive deficits, vision impairment and epilepsy. We have determined that due to high frequency of visual impairment and epilepsy we need to include neurophysiologic examinations very early in children with PVL lesions.

Glycosphingolipid expression in cerebrospinal fluid of infants with neurological abnormalities: report of three cases.

The aim of this study was to analyse glycosphingolipid expression in cerebrospinal fluid (CSF) from one idiopathic West syndrome (IWS) infant, one with Reye like syndrome, and one with congenital hydrocephalus, in comparison to control group (n=7) using highly sensitive thin-layer chromatography-immunostaining methods. Gangliotetraose-series gangliosides (acidic glycosphingolipids) were not detected in CSF of infant with idiopathic West syndrome and infant with congenital hydrocephalus. CSF of infant with IWS showed traces of neolacto-tetraose ganglioside fractions, which were absent in all other CSF examined. In addition, lactosylceramide fraction, and one ceramide fraction were highly expressed only in IWS CSF These results confirmed previously described lack of gangliotetraose-series gangliosides in IWS patient and for the first time is described increased expression of neolacto-series glycosphingolipids in IWS patient. Since follow up until the age of five years showed almost normal IWS patient psychomotor development, the discribed shift of glycosphingolipid expression may implicate on transient inhibition of specific glycosyl transferases in the age of seven months.

A stereotypic "elbowing" movement, a possible new primitive reflex in newborns.

The primitive reflexes are brainstem-mediated and play various roles in the child's psychomotor development. The objective of the current study is to describe a new pattern of primitive reflex, noticed in 52 of 81 randomly chosen newborns and young infants during pressing of the subcostal region. Some of them reacted by three-phase stereotypic movement as follows: phase 1: quick adduction of upper arm with flexion of the forearm, with elbow directed toward the site of stimuli, touching the stimulated area; phase 2: abduction and retroflexion of upper arm with the movement of removing the stimulus with the elbow; phase 3: extension and pronation of the forearm. The prevalence of this newly described reflex was 64.2%. The incidence of all three phases together was highest at Day 16 (63.5%); phase 1 was the most frequent at Day 30 (88.5%) in 52 children with positive reflex. At Day 86, only 18.4% of them retained the first phase of the movement and 2% retained the third phase. All reflexes appeared until Day 30. We believe that we have described a new primitive reflex, with all characteristics essential for primitive reflexes. It is definitely involuntary, complex, stereotypic, with decreased incidence over time. Because of the defensive purpose and peculiar manner of this reflex, we named it the "elbowing reflex."