Holoprosencephaly by triploidy 69 XXX in a 5 month old fetus]

Microcephaly, occipital meningocele, and uveal coloboma were observed in a 5-month-old fetus with a 69, XXX karyotype. Autopsy showed an holoprosencephaly, which has never before been reported in triploidy.     

Prenatal diagnosis of Meckel syndrome

Summary The three main features of Meckel syndrome are encephalocele, polycystic kidneys, and polydactyly. Prenatal diagnosis of a fetus with Meckel syndrome was made in the 16th week of gestation by means of amniotic fluid alpha₁ fetoprotein estimation. The indication for amniocentesis was a previous child with an occipital meningocele and polycystic kidneys. Interpretation of the alpha₁-fetoprotein value (240 g/ml) was difficult due to fetal blood contamination. Prenatal diagnosis is indicated in any pregnancy following the birth of a child with only two major symptoms of Meckel syndrome.     

Central nervous system malformations induced by triamcinolone acetonide in nonhuman primates: pathology

Triamcinolone acetonide (TAC) was administered to pregnant macaques (Macaca mulatta [15] and M. radiata [7]) during gestational days (GD) 23 to 41 using various dosing schedules. A daily dose of 10 mg/kg is approximately equal to 100 x the human dose equivalent. The brains of the fetuses and infants were studied grossly and histologically. All cases displayed either the mild form of the TAC-induced syndrome (craniofacial dysmorphia, cranium bifidum occultum, meningocele, and mild distortion of the midbrain) or the more severe form (occipital encephalocele, hydrocephalus, severe distortion of the midbrain or midbrain "beaking," shunting of cerebrospinal fluid, and craniofacial malformations). The dysmorphology was dose-related, with severity increasing at higher doses or with increased numbers of treatments. Individual cases were assessed for the severity of the syndrome by comparison of like components between groups. The lesions observed were morphologically comparable to those described in spontaneous human cases; the TAC-induced occipital encephaloceles were associated with brainstem and cerebellar abnormalities, and, with the less severe form of the syndrome, brainstem abnormalities were occasionally present, with occipital meningoceles. Controversy exists concerning the significance and temporal development of the midbrain changes. However, the associated alteration in aqueduct conformation may have been responsible for functional compromise and ensuing hydrocephalus.     

The Characterization of Childhood Occipital Epilepsy of Gastaut: A Study of Seven Patients

Characterization of the electroclinical features and evolution of childhood occipital epilepsy of Gastaut (COE-G). Seven children were retrospectively identified as having COE-G and were followed-up clinically using EEGs. Visual manifestations were the most common ictal event. Eye-associated ictal deviation was associated with ipsilateral turning of the head and migraine-like symptoms were frequent. Hemiconvulsions occurred in two children, and only one child had secondary generalized tonic–clonic seizures. In all patients, seizures occurred while awake, while two patients also had seizures while sleeping. EEG showed five patients with occipital spike-wave discharges when their eyes were closed which disappeared once their eyes were opened. Two cases continued having frequent seizures despite antiepileptic drug treatment. These patients also displayed learning difficulties and behavioral impairments after seizure onset. COE-G is a distinctive epileptic syndrome; however, the long-term prognosis for patients with the condition is unclear.     

Neural Mechanisms of Selective Attention in Children with Amblyopia

Previous studies have indicated that amblyopia might affect children''s attention. We recruited amblyopic children and normal children aged 9–11 years as study subjects and compared selective attention between the two groups of children. Chinese characters denoting colors were used in the Stroop task, and the event-related potential (ERP) was analyzed. The results show that the accuracy of both groups in the congruent condition was higher than the incongruent condition, and the reaction time (RT) of amblyopic children was longer. The latency of the occipital P1 in the incongruent condition was shorter than the neutral condition for both groups; the peak of the occipital P1 elicited by the incongruent stimuli in amblyopic children was higher. In both groups, the N1 peak was higher in the occipital region than frontal and central regions. The N1 latency of normal children was shorter in the congruent and neutral conditions and longer in the incongruent condition; the N1 peak of normal children was higher. The N270 latencies of normal children in the congruent and neutral conditions were shorter; the N270 peak was higher in parietal and occipital regions than frontal and central regions for both groups. The N450 latency of normal children was shorter; in both groups, the N450 average amplitude was significantly higher in the parietal region than central and frontal regions. The accuracy was the same for both groups, but the response of amblyopic children was significantly slower. The two groups showed differences in both stages of the Stroop task. Normal children showed advantages in processing speed on both stimulus and response conflict stages.Brain regions activated during the Stroop task were consistent between groups, in line with their age characteristics.     

Features of the power spectra of the main EEG rhythms in children with different types of attention deficit hyperactivity disorder

As a result of the examination of a group of 9- to 12-year-old children with the combined type of attention deficit hyperactivity disorder (ADHD), two variants of the clinical picture of ADHD were identified: the residual organic variant (ADHD RO) and the idiopathic variant (ADHD IP). The EEG power spectra in the main frequency ranges were studied with the eyes closed and open. The greatest intergroup differences in the power spectra were observed in the θ-band in the forntocentral and occipital derivations. In the frontocentral divisions of the cortex, the maximal values were observed in the group of ADHD RO children, whereas the highest spectral power values were observed in ADHD IP children in the occipital derivations. No statistically significant differences in the α-band spectral power between healthy subjects and ADHD schoolchildren from either group were obtained. Thus, the studies showed that these two ADHD variants have certain neurophysiological differences, which should be considered when therapeutic modalities are to be selected.     

Reflection of Anxiety in the Characteristics of Evoked EEG Potentials in 10- to 11-Year-Old Children

We studied the peculiarities of the amplitude/time parameters of evoked EEG potentials (EPs) and event-related potentials (ERPs) in 10- to 11-year-old children characterized by low and high anxiety levels. The latter levels were estimated using the scale of the manifest anxiety test of Prikhozhan and projective techniques (“House–Tree–Person,” HTP, and the Lüscher color test). For children with a high anxiety level, the amplitudes of the following EP components and ERPs were lower than those in low-anxiety children of the same age: P1 (predominantly in the occipital region of the left hemisphere), P2 (in the right occipital region), and Р300 wave (in different loci of both hemispheres). In high-anxiety children, we also more frequently observed increased amplitudes of the N2 component in the left parietal and right occipital regions. High-anxiety individuals were characterized by longer latencies of component P1 (mostly in the right frontal and left central regions) and, at the same time, shorter latencies of component N1 (in the parietal and occipital regions of the left hemisphere and also in the right temporal region). Thus, we found that the amplitude/time characteristics of a few EP components and ERPs in children with high anxiety levels differ statistically significantly from the parameters of corresponding EPs/ERPs in individuals of the same age but with low anxiety levels.     

Epicortical slow potential shifts and sensory-evoked potentials are related to seizure propensity in gerbils

Gerbils were assessed for behavioural tendency by scoring seizure severity and the amount of ambulatory and rearing activities in a novel `open-field' arena. Seizure-prone animals exhibited seizures on early open-field trials (1–2) and later performed more ambulatory activity than non-seizure-prone animals. Two weeks later, two groups of both seizure prone and non-seizure prone animals were chronically implanted with six silver/silver chloride ball electrodes for recordings during behaviour. Electrodes were on the surfaces of the frontal, parietal and occipital cortices bilaterally. In one group these were used to record slow potential shifts; in the other, visual- and acoustic-evoked responses. Larger negative and positive slow shifts occurred in seizure- prone animals. Most evident were the larger positive right frontal shifts and negative left occipital shifts. Seizure tendency was related to the amplitude of these waveforms. Visual-evoked potential amplitudes were generally larger and latencies shorter in seizure-prone animals, especially in the right occipital and left parietal cortices. Seizure susceptibility was associated with increased visual-evoked potential amplitude in the right frontal and left occipital cortices, and with reduced latency of both auditory-and visual-evoked responses in the left occipital cortex. The discussion highlights a role for glia in slow shift generation and the association of large shifts with enhanced sensory-evoked responses, especially in seizure-prone animals. Accepted: 21 January 1998     

Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)

In 42 cases, fetal abnormalities were diagnosed by obstetric ultrasonography and the pregnancy was terminated. The malformations included: anencephaly (22), severe hydrocephaly (4, one with a spina bifida), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-Shokeir syndrome type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), cystic hygroma and hydrops fetalis (2), osteogenesis imperfecta, type II (I). Thus, there were 23 fetuses with a polygenetically determined status; five fetuses could be affected by an autosomal recessive disorder.     

Spatial synchronization of potentials in the frontal zones of the brain during performance of nominative speech in children

Characteristics of spatial-temporal relations of the frontal zones potentials with those of other brain centres were studied in five- to six-year old children during naming of visually presented objects. EEG cross correlation analysis has shown that during visual perception of familiar objects the correlations of frontal areas with the interior pariental area of the left hemisphere are enhanced; the rhythms of the inferior parietal and occipital zones in the left hemisphere precede the potentials in the frontal area, while in the right hemispere synphasic relations are set up between the frontal and occipital zones. Naming the objects by the appropriate word as compared with rest and showing of the object, leads to enhancement of both intra- and interhemispheric correlations between potentials in the frontal zone and the inferior parietal and temporal zones. The frontal lobe rhythms begin to precede the inferior parietal and occipital potentials and form synphasic relations with the temporal and motor zone potentials in the left hemisphere.     

Deletion 3q27→3qter in an infant with mild dysmorphism,parietal meningocele,and neonatal miliaria rubra-like lesions

Summary Deletion 3q273qter in an infant is described. A chromosomal abnormality was suspected because of minor facial dysmorphism and closed parietal meningocele. On the first day of life, a large exudative inflammation appeared on the skin of her back, which completely resolved after 1 week. Biopsy showed dilated sweat gland openings resembling miliaria rubra, which has not been previously reported in this age group. It is unclear if the skin change was due to the chromosomal abnormality. The meningocele was repaired at age 8 months. At age 20 months, slight neurodevelopmental delay was evident, the main features being hypertonicity and inability to walk without support. The patient has two healthy sisters, and prometaphase chromosome studies in both parents were normal. This infant represents the first example of del3q273qter and the first reported association of meningocele with an abnormality of chromosome 3.     

Congenital basal meningoceles with different outcomes: a case series

Background

Basal meningoceles are rare congenital defects and often clinically occult until they result in life-threatening complications. Therefore, it is important to know the diagnostic clues to early diagnosis.

Case presentation

We describe three cases of congenital basal meningocele in a 3-year-old Japanese boy, a 1-month-old Japanese baby boy, and a 10-month-old Japanese baby girl. One of our patients died of sepsis due to traumatic rupture of the meningocele during nasal suction. His meningocele remained undiagnosed until it resulted in the fatal complication. The other patients underwent surgical repair without any complications. Their meningoceles were complicated by midfacial anomalies including cleft palate and hypertelorism, or a sign of nasal obstruction such as snoring.

Conclusions

These clinical features may be a clue to the early diagnosis of congenital basal meningocele, which enables its safe preoperative management and provides an opportunity for surgical repair before the condition results in serious complications.

     

Cortical evoked potentials as indicators of auditory-visual cross-modal association in young adults

Auditory evoked potentials (AEPs) were studied from scalp locations Cz and Oz on 37 adults aged 20-22 years during sensori-sensorial association of a weak sound (S) and a strong flash of light (L). After sound alone repetition (habituation), S-L association modified AEP: first, it caused a generalized orienting response expressed as increasing of Cz and Oz amplitude AEPs. Then, this pattern gave way to an activation limited to the Oz lead: the increase of amplitude was then concomitant with shortened latencies when compared to sound-alone-habituated responses. Inter-individual differences were observed since these occipital modifications were recorded only on 26 subjects. The other 11 subjects did not exhibit any occipital modifications following S-L association. For them, the main modification was a strong decrease of Cz AEP induced by S-L association. These two groups also differed in their capacity to ignore irrelevant stimuli which is higher in the first group (AEP amplitude habituation with sound-alone repetition) than in the second one (no AEP habituation).     

Spatial and temporal structure of phase synchronization of spontaneous alpha EEG activity

Spatiotemporal characteristics of spontaneous alpha EEG activity patterns are analyzed in terms of large-scale phase synchronization. During periods with strong phase synchronization over the entire scalp, phase patterns take either of two forms; one is a gradual phase shift between frontal and occipital regions and the other is a stepwise pattern with a sudden phase shift in the central region. The former is regarded as a traveling wave of electrocortical activity, of which the direction of propagation is predominantly from anterior to posterior in three out of four subjects, and opposite in the remaining one. The other activity pattern observed may correspond to a standing wave composed of two traveling waves propagating in opposite directions. The duration distributions of these patterns have similar forms within a subject, which suggests that they share the same mechanism for their generation.     

A cross correlation analysis of the electrical activity of different regions of the cerebral cortex during visual pattern recognition in children]

Characteristics of spatial-temporal organization of brain biopotentials were examined in one to 2.5 year old children during recognition of visual images. Crosscorrelation EEG analysis of frontal, motor, inferior parietal, temporal and occipital cortical zones has shown that recognition of familiar visual objects is accompanied by an increase in spatial synchronization of biopotentials, especially in the inferior parietal zones of both hemispheres and occipital centres of the left hemisphere. There is a considerable increase in the number of highly synchronous synphasic oscillations at the 4--5 per sec frequency with an intensified periodicity of processes. Recognition of unfamiliar objects does not produce a similar effect. Temporal organization of biopotentials of the associative (frontal and inferior parietal) and projection visual areas in the course of recognition of images depends on the existence of a notion of the whole object in the child's memory.     

Occipital lesions: A possible cost of cradleboards

This examination of a Mimbres-Mogollon pueblo skeletal sample reveals a surprising percentage of individuals with occipital lesions. Each lesion is located in the approximate center of the squama immediately superior to the external occipital protuberance. Notably, no child over the age of 1 year exhibits a lesion that would have been active at the time of death, but a number of older children and adults exhibit evidence of healed lesions in this same area on the occipital. The restricted nature of these lesions, in terms of both their locations and ages of those actively affected, suggests that the use of cradleboards may have been at least a contributing, if not initiatory, factor in their creation. Specifically, this study suggests that the pressure and friction of an infant's head against a cradleboard may have 1) produced ischemic ulcers, 2) produced the conditions favorable for bacterial infections such as impetigo or carbuncles, or 3) complicated the treatment of other infections appearing on the back of the scalp. © 1993 Wiley-Liss, Inc.     

Myelination Is Associated with Processing Speed in Early Childhood: Preliminary Insights

Processing speed is an important contributor to working memory performance and fluid intelligence in young children. Myelinated white matter plays a central role in brain messaging, and likely mediates processing speed, but little is known about the relationship between myelination and processing speed in young children. In the present study, processing speed was measured through inspection times, and myelin volume fraction (VF_M) was quantified using a multicomponent magnetic resonance imaging (MRI) approach in 2- to 5-years of age. Both inspection times and VF_M were found to increase with age. Greater VF_M in the right and left occipital lobes, the body of the corpus callosum, and the right cerebellum was significantly associated with shorter inspection times, after controlling for age. A hierarchical regression showed that VF_M in the left occipital lobe predicted inspection times over and beyond the effects of age and the VF_M in the other brain regions. These findings are consistent with the hypothesis that myelin supports processing speed in early childhood.     

Karyotype and morphology of larvae of Chironomus (Chironomidae, Diptera) from the Caspian Sea

Karyotype and morphology of Chironomus sp. larvae from the Caspian Sea have been described. 2n = 8. Chromosomal arm combination is AB, CD, EF, G (cytocomplex thummi). All chromosomes display conjugation of homologues. Centromere areas are of s-type. The nucleolar organizer and two Balbiani rings are disposed in arm C, and another Balbiani ring is in arm B. Half larvae have heterozygotic paracentric inversions in arm D. The larva belongs to salinarius form. One scleritis is colorless, an occipital scleritis is light and irregularly colored. Premandible has 4-5 cogs. Epipharingeal ridge has 18-23 dens. This new species is close to salinarius group, especially to Ch. albidus Konst., but differs from it at the larva stage in the structure of non-massive basal antenna segment, in the presence of large quantity of premandible denses, in light color of occipital scleritis, and in a series of morphometric rates. A similarity berween Ch. paraalbidus and Ch. albidus, on the one hand, and Boeotendipes, on the other one, has been found out.     

Visual and somatosensory event-related brain potentials in autistic children and three different control groups

Event-related potentials (ERPs) to visual and somatosensory stimuli, generated during an oddball task, were obtained in a group of autistic children and 3 control groups (normal, attention-deficit, and dyslectic children, respectively). The task included the presentation of standard, deviant, and novel stimuli and had a (between-group) passive vs. active (counting) condition. Research questions were whether (a) autistic children differ from other children with respect to the processing of visual and/or somatosensory stimuli, as measured in the amplitude of the N1, mismatch activity, and P3, (b) autistic children specifically have problems in the processing in distal (visual) stimuli, compared to the processing of proximal (somatosensory) stimuli, and (c) autistic children have an atypical lateralization pattern of ERP activity. Only in the autistic group a task effect on the visual P2N2 (mismatch activity) and larger P3s to novels than to deviants were found, in both the visual and the somatosensory modality. There also was a smaller occipital P3 to visual standard stimuli in the passive condition in the autistic group than in 2 control groups. We concluded that autistics (a) differ from several other groups of children with respect to the visual P2N2 and the visual and somatosensory P3, (b) show abnormalities in the processing of both proximal and distal stimuli, and (c) show no indication of abnormal lateralization of ERPs.     

Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism

Mitochondria play important roles in generation of free radicals, ATP formation, and in apoptosis. We studied the levels of mitochondrial electron transport chain (ETC) complexes, that is, complexes I, II, III, IV, and V, in brain tissue samples from the cerebellum and the frontal, parietal, occipital, and temporal cortices of subjects with autism and age-matched control subjects. The subjects were divided into two groups according to their ages: Group A (children, ages 4-10 years) and Group B (adults, ages 14-39 years). In Group A, we observed significantly lower levels of complexes III and V in the cerebellum (p<0.05), of complex I in the frontal cortex (p<0.05), and of complexes II (p<0.01), III (p<0.01), and V (p<0.05) in the temporal cortex of children with autism as compared to age-matched control subjects, while none of the five ETC complexes was affected in the parietal and occipital cortices in subjects with autism. In the cerebellum and temporal cortex, no overlap was observed in the levels of these ETC complexes between subjects with autism and control subjects. In the frontal cortex of Group A, a lower level of ETC complexes was observed in a subset of autism cases, that is, 60% (3/5) for complexes I, II, and V, and 40% (2/5) for complexes III and IV. A striking observation was that the levels of ETC complexes were similar in adult subjects with autism and control subjects (Group B). A significant increase in the levels of lipid hydroperoxides, an oxidative stress marker, was also observed in the cerebellum and temporal cortex in the children with autism. These results suggest that the expression of ETC complexes is decreased in the cerebellum and the frontal and temporal regions of the brain in children with autism, which may lead to abnormal energy metabolism and oxidative stress. The deficits observed in the levels of ETC complexes in children with autism may readjust to normal levels by adulthood.