The aim of this study was to establish whether abnormal signal intensity in the posterior limb of the internal capsule (PLIC) on magnetic resonance imaging is an accurate predictor of ...neurodevelopmental outcome at 1 year of age in infants with hypoxic-ischemic encephalopathy (HIE).
We have examined 73 term neonates with HIE between 1 and 17 days after birth with cranial magnetic resonance imaging and related the magnetic resonance imaging findings to neurodevelopmental outcome at 1 year of age.
All infants with an abnormal signal intensity in the PLIC developed neurodevelopmental impairment although in 4 infants with very early scans the abnormal signal was not apparent until up to 4 days after birth. A normal signal intensity was associated with a normal outcome in all but 4 cases; 3 of these infants had minor impairments and all had persistent imaging changes within the white matter. The 4th infant with a normal signal intensity on day 2 died before a further image could be obtained. The absence of normal signal predicted abnormal outcome in term infants with HIE with a sensitivity of 0.90, a specificity of 1.0, a positive predictive value of 1.0, and a negative predictive value of 0.87. The test correctly predicted outcome in 93% of infants with grade II HIE, according to the Sarnat system. Applying a Bayesian approach, the predictive probability of the test (the probability that the test would predict an outcome correctly) was distributed with a mean of 0.94 and 95% confidence limits of 0.89 to 1.0.
Abnormal signal intensity in the PLIC is an accurate predictor of neurodevelopmental outcome in term infants suffering HIE.
Abstract Purpose Unexplained gastrointestinal symptoms are more common in adults who recall abuse as a child; however, data available on children are limited. The aim of this study was to investigate ...the association of childhood maltreatment and early development of gastrointestinal symptoms and whether this relation was mediated by psychological distress. Methods Data were obtained from the Longitudinal Studies of Child Abuse and Neglect, a consortium of 5 prospective studies of child maltreatment. The 845 children who were observed from the age of 4 through 12 years were the subjects of this study. Every 2 years information on gastrointestinal symptoms was obtained from parents, and maltreatment allegations were obtained from Child Protective Services (CPS). At the age of 12 years children reported gastrointestinal symptoms, life-time maltreatment, and psychological distress. Data were analyzed by logistic regression. Results Lifetime CPS allegations of sexual abuse were associated with abdominal pain at age 12 years (odds ratio OR = 1.75; 95% confidence interval CI = 1.1–2.47). Sexual abuse preceded or coincided with abdominal pain in 91% of cases. Youth recall of ever having been psychologically, physically, or sexually abused was significantly associated with both abdominal pain and nausea/vomiting (range, OR = 1.5 95% CI, 1.1–2.0 to 2.1 95% CI, 1.5–2.9). When adjusting for psychological distress, most effects became insignificant except for the relation between physical abuse and nausea/vomiting (OR = 1.5; 95% CI, 1.1–2.2). Conclusion Youth who have been maltreated are at increased risk for unexplained gastrointestinal symptoms, and this relation is partially mediated by psychological distress. These findings are relevant to the clinical care for children who complain of unexplained gastrointestinal symptoms.
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Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
The aims of the study were to establish the relationship between head growth in the first year of life with the pattern on injury on neonatal magnetic resonance imaging (MRI) in infants with ...hypoxic-ischemic encephalopathy (HIE) and to relate these to the neurodevelopmental outcome.
Fifty-two term infants who presented at birth with a neonatal encephalopathy consistent with HIE and who had neonatal brain MRI were entered into the study. Head circumference charts were evaluated retrospectively and the head growth over the first year of life compared with the pattern of brain lesions on MRI and with the neurodevelopmental outcome at 1 year of age. Suboptimal head growth was classified as a drop of >2 standard deviations across the percentiles with or without the development of microcephaly, which was classified as a head circumference below the third percentile.
There was no statistical difference between the neonatal head circumferences of the infants presenting with HIE and control infants. At 12 months, microcephaly was present in 48% of the infants with HIE, compared with 3% of the controls. Suboptimal head growth was documented in 53% of the infants with HIE, compared with 3% of the controls. Suboptimal head growth was significantly associated with the pattern of brain lesions, in particular to involvement of severe white matter and to severe basal ganglia and thalamic lesions. Suboptimal head growth predicted abnormal neurodevelopmental outcome with a sensitivity of 79% and a specificity of 78%, compared with the presence of microcephaly at 1 year of age, which had a sensitivity of only 65% and a specificity of 73%. The exceptions were explained by infants with only moderate white matter abnormalities who had suboptimal head growth but normal outcome at 1 year of age and by infants with moderate basal ganglia and thalamic lesions only who had normal head growth but significant motor abnormality.
The spectrum of leukomalacia using cranial ultrasound is discussed. Transient densities not evolving into cystic lesions may represent a mild degree of leukomalacia when persisting for at least a ...week. A unilateral parenchymal density may be due to bleeding into an ischaemic area, but can also be due to a venous infarction. Cystic leukomalacia can be confidently diagnosed using appropriate equipment and performing sequential scans. A distinction should be made between cysts in the periventricular white matter and cysts in the deep white matter, as the latter carries a higher risk for cerebral visual impairment. Careful ophthalmological examination of these infants will enable us to identify infants with cerebral visual impairment during the first few months of life, allowing the use of special programs aimed at promoting visual development.
The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin ...filament. In a single large Australian family with an autosomal dominant form of nemaline myopathy, the disease is caused by a mutation in the α -tropomyosin gene TPM3. The typical form of nemaline myopathy is inherited as an autosomal recessive trait, the locus of which we previously assigned to chromosome 2q21.2-q22. We show here that mutations in the nebulin gene located within this region are associated with the disease. The nebulin protein is a giant protein found in the thin filaments of striated muscle. A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs. We have studied the 3′end of the 20.8-kb cDNA encoding the Z disc part of the 800-kDa protein and describe six disease-associated mutations in patients from five families of different ethnic origins. In two families with consanguineous parents, the patients were homozygous for point mutations. In one family with nonconsanguineous parents, the affected siblings were compound heterozygotes for two different mutations, and in two further families with one detected mutation each, haplotypes are compatible with compound heterozygosity. Immunofluorescence studies with antibodies specific to the C-terminal region of nebulin indicate that the mutations may cause protein truncation possibly associated with loss of fiber-type diversity, which may be relevant to disease pathogenesis.
Objective To investigate risk factors for neonatal arterial ischemic stroke (NAIS), and compare them with those present in term controls and infants with hypoxic-ischemic encephalopathy (HIE). Study ...design Antepartum and intrapartum data were collected at presentation from 79 infants with NAIS and compared with 239 controls and 405 infants with HIE. The relationships between risk factors and NAIS were explored using univariable and multivariable regression. Results Compared with controls, infants with NAIS more frequently had a family history of seizures/neurologic diseases, primiparous mothers, and male sex. Mothers of infants with NAIS experienced more intrapartum complications: prolonged rupture of membranes (21% vs 2%), fever (14% vs 3%), thick meconium (25% vs 7%), prolonged second stage (31% vs 13%), tight nuchal cord (15% vs 6%), and abnorm8al cardiotocography (67% vs 21%). Male sex (OR 2.8), family history of seizures (OR 6.5) or neurologic diseases (OR 4.9), and ≥1 (OR 5.8) and ≥2 (OR 21.8) intrapartum complications were independently associated with NAIS. Infants with NAIS and HIE experienced similar rates though different patterns of intrapartum complications. Maternal fever, prolonged rupture of membranes, prolonged second stage, tight nuchal cord, and failed ventouse delivery were more common in NAIS; thick meconium, sentinel events, and shoulder dystocia were more frequent in HIE. Abnormal cardiotocography occurred in 67% of NAIS and 77.5% of infants with HIE. One infant with NAIS and no infant with HIE was delivered by elective cesarean (10% of controls). Conclusions NAIS is multifactorial in origin and shares risk factors in common with HIE. Intrapartum events may play a more significant role in the pathogenesis of NAIS than previously recognized.
We wished to determine the pattern of cerebellar disease in children with a history of premature birth and early ultrasound evidence of intraventricular haemorrhage and/or parenchymal lesions of the ...cerebral hemispheres.
MRI findings for all premature infants examined in a 3-year period (73 patients) were reviewed to determine the nature and frequency of lesions of the cerebellum and the results were correlated with clinical data.
Six cases of unilateral cerebellar infarction were identified. These involved the posterior inferior cerebellar territory in each case (as well as other territories in two cases). A case of generalised cerebellar atrophy and three cases of unilateral cerebellar hemisphere atrophy were identified as well. In nine of these ten cases abnormalities were also seen elsewhere in the brain.
The literature describes cerebellar infarction in infants and children as rare, but this study shows that it is not unusual following perinatal haemorrhagic/ischaemic anoxic injury. It is suggested that cerebellar atrophy may also occur as a result of vascular disease.
The childhood-onset spinal muscular atrophies (SMAs) describe a heterogeneous group of disorders that selectively affect the alpha motoneuron. We have shown that chronic childhood-onset SMA (SMA II ...and III) maps to a single locus on chromosome 5q. Acute SMA (SMA Type I/Werdnig-Hoffmann/severe/infantile) is the main cause of heritable infant mortality. Mapping the acute SMA locus by conventional methods is complicated by the rapidly fatal course of the disease and its recessive mode of inheritance. We present here the typing of four inbred acute-SMA families with DNA markers on chromosome 5q and analysis of these together with acute families from our previous study to demonstrate genetic homogeneity between the acute and chronic forms of SMA. The data indicate that the acute SMA locus maps to chromosome 5q11.2-13.3. Two families seem unlinked to 5q markers, raising the possibility of genetic heterogeneity or disease misclassification within the acute and chronic family sets.
Eighteen term infants with hypoxic ischaemic encephalopathy (HIE) were studied with serial magnetic resonance imaging of the brain for up to two months following birth. Important early findings ...included brain swelling, cortical highlighting, diffuse loss of grey/white differentiation and loss of signal in the posterior limb of the internal capsule (PLIC). These signs were easier to identify on T1-weighted spin echo or inversion recovery sequences than on T2-weighted spin echo sequences. Brain swelling was only seen in the first seven days and was present in all grades of HIE. All other signs persisted and were associated with the subsequent development of major structural changes in the brain. The exact pattern of injury was best identified after the first week of life once the signs of brain swelling had cleared.
The role of intrapartum asphyxia in neonatal encephalopathy and seizures in term infants is not clear, and antenatal factors are being implicated in the causal pathway for these disorders. However, ...there is no evidence that brain damage occurs before birth. We aimed to test the hypothesis that neonatal encephalopathy, early neonatal seizures, or both result from early antenatal insults.
We used brain MRI or post-mortem examination in 351 fullterm infants with neonatal encephalopathy, early seizures, or both to distinguish between lesions acquired antenatally and those that developed in the intrapartum and early post-partum period. We excluded infants with major congenital malformations or obvious chromosomal disorders. Infants were divided into two groups: those with neonatal encephalopathy (with or without seizures), and evidence of perinatal asphyxia (group 1); and those without other evidence of encephalopathy, but who presented with seizures within 3 days of birth (group 2).
Brain images showed evidence of an acute insult without established injury or atrophy in 197 (80%) of infants in group 1, MRI showed evidence of established injury in only 2 infants (<1%), although tiny foci of established white matter gliosis, in addition to acute injury, were seen in three of 21 on post-mortem examination. In group 2, acute focal damage was noted in 62 (69%) of infants. Two (3%) also had evidence of antenatal injury.
Although our results cannot exclude the possibility that antenatal or genetic factors might predispose some infants to perinatal brain injury, our data strongly suggest that events in the immediate perinatal period are most important in neonatal brain injury.
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