Cortical visual impairment (CVI) refers to bilateral impairment of vision that is usually due to damage occurring perinatally in the visual cortex and/or optic radiations. The most common cause of this damage is hypoxia, and other causes include encephalitis, meningitis, and trauma. Relatively little research has been done to quantify visual abilities in children with CVI. In the present study, we used an electrophysiological technique (visual evoked potentials) to measure two aspects of spatial vision in 35 infants and children with CVI (15 females, 20 males; mean age 3 years 6 months, SD 3 years 5 months; age range 4 months to 16 years). We measured each child's grating acuity (resolution for detecting high-contrast stripe patterns) and vernier acuity (resolution for localizing pattern elements). Performance on grating acuity and vernier acuity in individuals with CVI was compared with that of age-matched individuals with normal vision, and it was found that vernier acuity was relatively lower than grating acuity in children with CVI. Results support the theory that vernier acuity is cortically mediated, and suggest that vernier acuity is a more sensitive measure than grating acuity for quantifying vision deficits in patients with CVI.

Cervical accelerometry with digital signal processing (DSP) can identify signals that are consistently associated with swallowing during feeding of infants. It is shown that these signals, called initial discrete sounds (IDSs), become more uniform with advancing postmenstrual age (PMA) in healthy preterm infants. The objectives of this study were to determine if cervical accelerometry and DSP at a higher sample rate than previously used (22kHz versus 16kHz), in conjunction with a DSP software package that allows manipulation of the sound files, would improve the accuracy of the previously developed variance index (VI) method of analyzing accelerometric information. The modified VI method was then used to measure developmental differences in the IDS morphology of infants with and without bronchopulmonary dysplasia (BPD). VIs were calculated for 24 feeding studies of infants of between 32 and 39 weeks PMA: 12 studies on healthy preterm infants (n=10: three males, seven females; mean gestational age [GA] 28.6 weeks, SD 0.4; mean birthweight [BW] 1080g, SD 82; PMA mean 35.2 weeks, SD 0.6) and 12 studies on infants with BPD (n=7: five males, two females; GA 27.1 weeks, SD 0.4; BW 911g, SD 71; PMA 36.2 weeks, SD 0.6). There was a significant inverse correlation between VI and PMA for the healthy preterm group (r=0.66, m=–2.31/week, p=0.02). There was no significant correlation between VI and PMA for the BPD cohort. The VI of infants with BPD was significantly different from that of infants without BPD (p<0.007, multiple regression analysis, interaction PMA×Group). Additionally, using our modified VI technique, 100% of swallows were found to have the expected IDS signals.

A neuropsychological assessment was conducted to study cognition, with emphasis on memory, information processing/learning ability, and executive functions in boys with Duchenne muscular dystrophy (DMD). A group of 20 boys with DMD, aged 7 to 14 years (mean age 9 years 5 months, SD 2 years 2 months), was contrasted with 17 normally developing age-matched comparison individuals, using specific neuropsychological tests (Block Span, Digit Span, Story Recall, Rey Auditory Verbal Learning Test, Rey Complex Figure Test, Spatial Learning Test, Verbal Fluency, Trail Making Test, Tower of London, Memory for Faces, and Raven's Coloured Progressive Matrices). The DMD group performed significantly worse on all aspects of memory, learning, and executive functions. There was no significant difference in general intellectual ability between the two groups. Analyses of group differences indicate that problems in short-term memory are the most apparent, suggesting specific cognitive deficits. The differences between the groups were similar for both verbal–auditory and visuospatial tests, thus contradicting the idea that cognitive deficits are related to type of stimulus presented. It is concluded from this study that short-term memory deficits might play a critical role in the cognitive impairment and intellectual development seen in those with DMD.

Hemispatial neglect is commonly observed in adults following right-hemisphere brain lesions. Given the potential for reorganization in the developing brain, spatial neglect may not be apparent following early unilateral damage. This study aimed to determine whether infants who experienced pre- or perinatal focal brain lesions showed evidence of spatial neglect. Study participants were 33 infants/toddlers (22 males, 11 females; age range 6 to 48 months); 27 preschool children (14 males, 13 females; age range 28 to 75 months) with either left hemisphere (LH) or right hemisphere (RH) damage of pre- or perinatal onset (total 60), and 36 control individuals (15 females, 21 males; age range 28 to 75 months). Participants were assessed using two object-removal preference tasks. Control children showed no lateralized preference for object removal. Those with LH or RH damage preferentially removed objects from the side of the board ipsilateral to the lesion first and the contralateral side last. These results suggest that spatial neglect may be found in young children even after very early unilateral brain damage. Further, in contrast to the adult pattern, contralateral neglect is present for up to 6 years after either LH or RH damage. This pattern suggests that there may be a different distribution of attention to space in the developing brain as compared with the mature brain. The persistence of spatial neglect suggests that there are some limitations on plasticity in the developing human brain.

A male child, born at 37+5 gestational weeks (GWs) (birthweight 2000g) after intrauterine growth retardation (IUG; –3 SD), to a mother treated during pregnancy for asthma, developed periventricular leukomalacia and retinopathy with total retinal detachment in the left eye and partial detachment in the right eye. Apart from basic asthma treatment with terbutalin, budesonid, and fenoterolhydrobromid throughout the pregnancy, she was treated with intravenous or oral cortisone for 6.5 weeks from 28+5 GWs. In addition she developed deep venous thrombosis at 29 GWs and was treated with heparin until delivery. Psychotic symptoms during the 31st GW were treated with diazepam, haloperidol, and levomepromazin. Functional sequelae for the child were visual impairment (visual acuity 5/60), uneven intellectual profile (Wechsler Pre-school and Primary Scale of Intelligence, Verbal IQ 94 and Performance IQ 32 at 8y of age), and autistic-like behaviour. The possibility that pre- and perinatal risk factors (e.g. severe maternal illness, IUGR, and cortisone treatment) in a term infant may create conditions for developing eye and brain pathologies commonly closely related to preterm birth should be considered.

In paediatric outpatient departments it is not uncommon for a child to complain of muscle pain and stiffness. These may be labelled as ‘growing pains’, a diagnosis of exclusion when no obvious cause is found. Pain and stiffness occur most frequently at night and are located usually in the leg muscles, and not in the joints. They are intermittent, and tend to occur after the child has had an especially active day, so that a detailed history which notes pain after almost any amount of exercise (as opposed to stress at the site of the pain) will reveal the differences from McArdle's disease. If examination results are entirely normal investigations are to be avoided unless the symptoms persist. If they do, a number of causes may be found, from orthopaedic abnormalities to metabolic disorders. This paper is concerned with one of the latter: glycogenosis type V or McArdle's disease, a rare autosomal recessive condition resulting from muscle phosphorylase deficiency, an enzyme which initiates the breakdown of glycogen in skeletal muscle. Cardiac muscle is not significantly affected. The condition usually presents in the first two decades of life, but can occur in infancy and adulthood.

One-hundred and fifty-seven vertically infected HIV-1 positive infants (85 males, 72 females) underwent longitudinal assessment to determine whether early neurodevelopmental markers are useful predictors of mortality in those infants who survive to at least 4 months of age. Survival analysis methods were used to estimate time to death for quartiles of 4-month scores (baseline) on the Bayley Scales of Infant Development (BSID). Cox proportional hazards progression was used to estimate relative hazard (RH, 95% CI) of death for BSID scores and potential confounders. Thirty infants with BSID scores at 4 months of age died during follow-up. Survival analysis revealed greater mortality rates in infants with BSID (Mental Developmental Index and Psychomotor Developmental Index) scores in the lower quartile(p=0.004, p=0.036). Unadjusted univariate analyses revealed increased mortality associated with baseline CD4+ 29%, gestational age <37 weeks, smaller head circumference, advanced HIV and higher plasma viral load. BSID scores independently predicted mortality after adjusting for treatment, clinical category, gestational age, plasma viral load and CD4+ percentage.

In patients with focal epilepsy, focal neurological dysfunction can occur due to status epilepticus and also as a post-ictal phenomenon. Bulbar dysfunction as evident by drooling, dysarthria, swallowing difficulties, and palatal–glossalpharyngeal weakness has been reported in conjunction with epilepsy. This is non-progressive and is correlated in its severity with the frequency of seizures. Accompanying EEG discharges are often localized to rolandic areas that cortically represent oral movements and salivation. We report a 6-year-old male and a 6½-year-old female with progressive bulbar dysfunction resulting from epilepsy. Ictal EEGs in patient 1 did not confirm a diagnosis of epilepsy. With no evidence of a cortical or brainstem focus from EEG or MRI, it is very difficult to explain the mechanism of bulbar dysfunction. The complete restoration of bulbar function after treatment with antiepileptic drugs demonstrates the need to consider epilepsy in similar clinical situations.

Virtual Reality (VR) Therapy is one of the emerging and most effective applications of VR technology, where patients are exposed to stimuli in fully controllable environments.