Growth and development of 207 children (49% males; mean age 5.4 years [SD 0.2], range 4 to 7.3 years whose mothers received iodine during pregnancy, and children who received iodine first in their 2nd year, were examined in 1996; 192 children (49% males; mean age 6.5 years[SD 0.2], range 5.8 to 6.9 years) whose mothers received iodine while pregnant were seen in 1998. Children were from the southern part of China's Xinjiang Province which has the lowest levels of iodine in water and soil ever recorded. Head circumference but not height was improved for those who received iodine during pregnancy (compared with those receiving iodine at age 2) and for those supplemented before the end of the 2nd trimester (relative to those supplemented during the 3rd trimester). Iodine before the 3rd trimester predicted higher psychomotor test scores for children relative to those provided iodine later in pregnancy or at 2 years. Results from the test for cognitive development resulted in trend only differences between those children supplemented during pregnancy versus later. The results address the question of when maternal iodine supplements should begin in public health programs world wide. Findings may be relevant to the treatment of maternal and newborn thyroid deficiency in industrialized countries, particularly for those infants delivered before the end of the second trimester.

This study was designed to test the hypothesis that systemic hypotension during the first postnatal week increases the risk of ultrasonographic echolucency in the white matter of preterm infants ([les ]28 weeks' gestation) while adjusting for confounders. From a study base of 1607 very-low-birthweight neonates (500 to 1500g), a subsample of 243 preterm infants (122 females; [les ]28 weeks' gestation) was selected for echolucency and data collection prospectively for the entire first postnatal week. Data analyses were performed separately for the first 24 hours of life, for the interval from the end of the first 24 hours to the end of the fourth postnatal day, and for days 5, 6, and 7. Systemic hypotension was defined as the mean arterial blood pressure in the lowest quartile for the infant's week of gestational age. Protocol cranial ultrasounds were those obtained closest to days 1, 7, and 21. A committee of sonologists classified the infants as having either echolucency (echolucency group) or not (control group). Systemic hypotension during the first week of life appeared to be associated with echolucency in univariable analyses but the association did not persist after adjustment for potential confounders. Detailed summaries of 13 previous studies, the majority of which did not show an association between systemic hypotension and white-matter damage, are presented. In sum, these results do not support the hypothesis that systemic hypotension contributes to echolucency among preterm infants.

This study determined whether an auditory, tactile, visual, and vestibular intervention (ATVV) reduced the length of hospitalization of 37 preterm infants by increasing the proportion of alert behavioral states, thereby improving their feeding progression. Participants comprised 12 infants born between 23 and 26 weeks' gestation with normal head ultrasounds and 25 CNS-injured infants born between 23 and 31 weeks' gestation. Infants were randomly assigned to the control group (11 males, five females) or study group (seven males, 14 females) at 32 weeks' postconceptional age. ATVV intervention was administered to the study group for 15 minutes, twice daily, 5 days per week, from 33 weeks of age until discharge. The study group demonstrated increased alertness during the first 5 minutes of intervention, which was significantly correlated to length of stay (p<0.05). The proportion of nippled (teat) intake increased significantly faster for the study group (p=0.0001). Infants in the study group were discharged at a mean of 36.54 weeks, 1.6 weeks earlier than control infants (p< 0.05). ATVV intervention facilitated increased alertness, faster transition to complete nipple feeding, and decreased length of hospitalization.

This study examined 17 children (nine males, eight females; mean age 13 years) with prenatal alcohol exposure of various durations. The aim of the study was to detect specific brain morphological alterations by means of MRI and to see if findings correlated with particular cognitive deficits. Of the 17 children, five had been exposed to heavy maternal consumption of alcohol (over 10 drinks/week) during the first trimester only; four had been exposed during the first and second trimester; and eight had been exposed throughout pregnancy. Five children had alcohol related neurobehavioural disorder, seven were diagnosed as having foetal alcohol effects and five were diagnosed as having foetal alcohol syndrome. Hypoplasia of the vermis was observed in 10 children and malformed posterior vermis in one additional child. Five children had hypoplastic cerebellar hemispheres. Hypoplasia of the corpus callosum was observed in two children. Small hippocampi were observed in three children and wide cortical sulci in six. No specific structural anomaly correlated with a particular neuropsychological deficit. In this study, deviations in the development of the vermis was the most sensitive morphological indicator of the effects of prenatal alcohol exposure. It was seen in every diagnostic group including children who had been exposed during only the first trimester of pregnancy.

The relationship between positron emission tomography (PET) findings and developmental or seizure outcome was examined in 17 infants (11 males, six females; mean age at onset of spasms 7 months, range 3 to 26 months) with newly diagnosed cryptogenic West syndrome. The predictive value of PET in these infants was assessed. PET was performed in the infants at the onset of spasms and 3 months after initial therapy using 18F-labelled 2-deoxy-2-fluoro-D-glucose. A third PET was performed at 18 months of age if the second scan was abnormal. All infants were followed up until at least 3 years of age. Cortical hypometabolism was detected in 11 infants on the first PET and in five infants on the second. Rate of developmental delay at the last follow-up was significantly higher in infants with hypometabolism on the second PET than in those without PET abnormalities (p<0.05). Rate of seizure occurrence after initial treatment was higher in infants with cortical hypometabolism on the second PET, but the difference was not statistically significant. Results suggest that when PET after the initial treatment shows no abnormalities, even though the first PET shows hypometabolism, infants with cryptogenic West syndrome may have a favourable developmental or seizure outcome. PET may be a useful tool in evaluating the prognosis in infants with cryptogenic West syndrome.

This study aimed to explore the limitations of the Ashworth scale for measuring spasticity. An isokinetic dynamometer to quantify resistance to passive stretch and surface EMG was used to verify if a stretch response occurred and, if so, at what joint angle. The authors sought to determine which components of passive resistance (magnitude, rate of change, onset angle of stretch, or velocity dependence) were most related to Ashworth scores and which were related to motor function in cerebral palsy (CP). Twenty-two individuals with spastic CP (11 males, 11 females; mean age 11.9 years, SD 4.3) and a comparison group of nine children without CP (four males, five females; mean age 11.3 years, SD 2.5)participated in the study. The group with CP included those with a diagnosis of spastic diplegia, hemiplegia, or quadriplegia, distributed across Gross Motor Functional Classification Levels. Procedures included: (1) clinical assessment at the knee joint, (2) functional assessments, and (3) isokinetic assessment of passive resistance torque in hamstrings and quadriceps at three velocities. EMG data were recorded simultaneously to identify stretch responses. Detecting stretch responses using the Ashworth scale compared with instrumented measures showed near complete agreement at extremes of the scale, with marked inconsistencies in mid-range values. Ashworth scores were correlated with instrumented measures, particularly for the quadriceps, with higher correlations to the rate of change in resistance (stiffness) and onset angle of stretch than to peak resistance torque. Those with greater resistance tended to have poorer function with isokinetic relations typically stronger.

A high incidence of long-bone fractures has been observed in children and young adults with quadriplegic cerebral palsy in residential care. This study aimed to determine factors that contribute to these fractures and to institute preventive treatment. Twenty individuals (12 males, eight females) of a cohort of 88 residents with spastic quadriplegia in residential care in Gauteng, South Africa who had sustained fractures were compared with a random sample of age-matched control participants (10 males, 10 females) from the same facility. Participants ranged in age from 6 to 29 years (median 17.5 years). The majority of fractures were in the upper extremities. There was radiological and biochemical evidence of rickets and osteomalacia in both groups. However, the severity of the disease was more pronounced in the group with fractures. There was a significant relation (p=0.002) between the number of fractures and the use of anticonvulsant therapy (ACT). Three months of vitamin D administration (calciferol 5000iu/day) resulted in a marked clinical improvement. There were no fractures during this period in either group. In addition, the mean serum calcium (Ca) and phosphate (Pi)levels increased (Ca from 2.17 to 2.35mmol/L and Pi from 1.13 to 1.66mmol/L) and mean total alkaline phosphatase level decreased (from 1123 to 423U/L). We concluded that vitamin D deficiency was the major factor contributing to the occurrence of fractures in this population. Unless sunlight exposure can be guaranteed, vitamin D supplementation should be considered for children and adults in residential care, especially if they are on ACT, even in areas with year-round sunshine.

The influence of early cochlear hearing loss on maturation of the auditory pathway was studied by measuring auditory brainstem responses (ABR). In a retrospective study, 85 children with normal hearing (46 males, 39 females; age range 2 months to 14 years) and 165 children with binaural cochlear hearing impairment (89 males, 76 females; age range 1 month to 16 years) were examined. A significant positive correlation (p<0.001) between the degree of hearing loss and interpeak latencies I–V (IPLI–V) of the ABR was observed. No significant correlation (p=0.85) was found between hearing loss and interpeak latencies I–III (IPLI–III). These findings can be interpreted as indicating a marked delay in maturation of higher brainstem structures due to reduced auditory input during infancy. The correlation differs notably from results of comparable studies of adults published in recent literature. This leads to the assumption that the developing human brain is particularly sensitive to auditory deprivation. Thus, our results indicate the importance of a normal acoustic environment during sensitive periods in early childhood to ensure normal hearing and speech development.

Sixty-seven consecutive patients (59 females, eight males; mean age 13.6 years, age range 8.1 to 18 years) with adolescent idiopathic scoliosis were evaluated for segmental dystonia, thermal and vibratory thresholds, and cortical somatosensory evoked potentials (cSEPs). Clinically, there were no signs of segmental dystonia. No significant side difference was found in cSEPs and thermal thresholds. Vibration thresholds were increased on the right side with a significant side difference at all sites. However, these changes did not correlate to curve size, rotation, curve type, or convexity. It was concluded that, at the present level of somatosensory testing, no segmental neurophysiological disturbance can be related to the appearance of idiopathic scoliosis. The importance of asymmetric vibratory thresholds measurements cannot be deduced from this study.

This is a report of a 9-year-old female with a clinical presentation of benign intracranial hypertension (BIH) who was found to have an unruptured pial arteriovenous malformation (AVM) with a significant fistula. The AVM was completely embolized using a recently developed liquid embolic system, Onyx, after which gradual clinical improvement followed. A few cases of BIH associated with AVM have been described in adults and adolescents. Possible causal relation is discussed.

Identification of the biochemical deficiency that causes Duchenne muscular dystrophy (DMD) has often been hailed as the beginning of the era of ‘genetic medicine’. Identification of this first ‘positionally cloned’ gene led to subsequent identification of dystrophin deficiency in muscles, the definition of a plethora of related muscular dystrophies and multiple species of genetically and biochemically identical animal models, and the publication of thousands of papers on dystrophin, the membrane cytoskeleton of myofibers, and molecular diagnostics. The recent advent of genome-wide approaches (single nucleotide polymorphisms, and microarrays) are quickly adding new insights into the molecular pathophysiology and underlying clinical progression of the dystrophies.

Foetal alcohol syndrome (FAS) was first described in 1973 by Jones and colleagues. Since then, results of epidemiological studies and clinical experience have shown that exposure of the foetus to high maternal alcohol consumption has a range of consequences. It can result in both major and minor malformations, permanent impairment of growth with a disproportionately low weight-to-height ratio and reduced head growth, and CNS dysfunction ranging from learning disability to specific learning disorders – all characteristics that can, however, have other causes. Effects within all domains can range from mild to severe. Effects seen in a child and the diagnosis reached depend on the duration of exposure to substantial maternal alcohol consumption during pregnancy, the range and timing of peak blood-alcohol levels, the nutritional state of the mother, and individual susceptibility.