Cortical visual impairment (CVI) is the leading cause of bilateral visual impairment in children in Western countries. This finding reflects better methods for identifying visual impairment due to CNS injury and also advances in perinatal care, which have increased the survival rate of children with neurological morbidity. This review will describe advances in the diagnosis and management of CVI. Central to our discussion is a definition of CVI that includes a decrease in visual acuity. New treatment and rehabilitative measures are badly needed for this disorder. We hope to stimulate interest in CVI, a disease that has become a significant public health problem.

Quantitative analyses of cross-sectional areas of the thalami, caudate nuclei, and lentiform nuclei were performed in 29 preterm infants (16 males, 13 females; mean age 29.6 weeks, age range 27 to 24 weeks,) with periventricular leukomalacia (PVL). MRI was carried out in the infants between 9 and 18 months of corrected age and in 16 control infants. Bilateral thalami, caudate nuclei, lentiform nuclei, cerebral hemispheres, and cerebellum were measured by computer. Ratios of the areas of the thalami (Th), caudate nuclei (Ca), lentiform nuclei (Le), and cerebral hemispheres (CH) to that of the cerebellum (Ce) were calculated in each infant. The ratio of Th:Ce was significantly smaller in infants with moderate and severe PVL than in the control group bilaterally. Abnormal intensity areas were not observed in the thalami in any infants with PVL. CH:Ce was also smaller in infants with severe PVL than in the control group. No significant difference was observed between the groups in ratios Le:Ce or Ca:Ce. Results of our study suggest that the volume of the thalami is reduced and that thalamic involvement is present in infants with white matter lesions who have moderate to severe PVL.

Central pontine myelinolysis (CPM) is rare in childhood with only a few cases reported in world literature. We report a 7-year-old male who presented with acute ataxia, swallowing difficulties, dysarthria, and radiological features consistent with the disorder. He improved remarkably with oral prednisolone therapy and was almost back to normal by 2 weeks. A review of the literature is also included.

This study examined the effects of physical therapists' behaviors on the levels of distress and coping of 32 children (19 males, 11 females; age range 2.6 to 9.1 years) during a painful medical procedure. This is the second study to assess children throughout rehabilitation following selective posterior rhizotomy and the first to assess the impact of physical therapists' behaviors. Results of the Child–Adult Medical Procedure Interaction Scale–Revised confirmed the hypotheses that: (1) children exhibit more coping behaviors and fewer distress behaviors over time, and (2) positive relationships exist between coping-promoting behaviors in physical therapists and coping in children, and distress-promoting behaviors in physical therapists and distress in children. Prompts for children to use a coping strategy, reassuring comments, and non-procedural talk by therapists explained 67% of the variance in children's coping. Criticism, reassurance, checking child's status, praise, and empathic statements by therapists explained 65% of the variance in children's distress. Older children and children with higher IQ scores exhibited more coping behaviors.

Severe congenital myotonic dystrophy (CMD) is an autosomal dominant condition characterized by hypotonia and respiratory insufficiency at birth. Terminal outcome has been reported in infants requiring ventilation for longer than 30 days. The case is reported of an infant born at 34 weeks' gestation with severe CMD. Infant survived following ventilatory support from birth until day 67 of life. Subcutaneous erythropoietin (600 units, three times weekly) was commenced on day 6 as the Jehovah's Witness parents were strongly opposed to blood transfusions. Haemoglobin fell to 5.8g/dL without adverse effects and then progressively rose to 15.4g/dL. No blood transfusions were necessary. This case illustrates that infants with severe CMD requiring ventilation for more than 30 days do not have a universally fatal outcome. Low haemoglobin was well tolerated which calls for re-examination of the indications for blood transfusions in ventilated neonates.

Chronic constipation is a common problem in children; it is responsible for 5% of referrals to general paediatricians, 20% of referrals to paediatric gastroenterologists, and 10000 admissions to hospitals in the United Kingdom every year. Constipation is particularly common in children with disabilities; in a recent epidemiological survey of nutritional and gastrointestinal problems in children with cerebral palsy, constipation (defined as opening of the bowels less frequently than once in every 3 days) was reported in 98 of 377 (26%) of children. There is frequently a delay in the recognition and appropriate treatment of constipation in children and symptoms are often present for months or years before appropriate treatment is provided. Such delay is a particular problem in children with disabilities either because it is accepted as an inevitable consequence of the neurological impairment or because a higher priority is given to other aspects of medical management such as treatment of convulsions or postural deformity. Moreover, communication difficulties compound delay and failure to recognize the problem as the child with disabilities is often unable to express the discomfort caused by constipation. Abdominal pain is a frequently encountered symptom of chronic constipation in those children who are able to give an account of their experience and contributes considerably to the adverse effect that chronic constipation has on their quality of life. Similarly, adequate treatment of constipation provides relief for the child and can be observed to lead to an improvement in appetite or behaviour. For instance, the improvement in behaviour of children with autism following evacuation of retained faeces after constipation is frequently encountered in clinical practice.

We report on a male infant with pyridoxine dependency and seizures from birth, controlled with pharmacological doses of pyridoxine at 4 months of age. Seizures stopped between 30 and 80 days of age when very-low doses of pyridoxine were given in a multivitamin supplement . Daily dose was 0.5mg that corresponded to 0.08 to 0.16 mg/kg/day when weight gain is considered. In previous reports doses have ranged from 0.2 to 30 mg/kg/day. Another distinctive feature was that this infant went into a coma and developed hypotonia and irregular breathing when pyridoxine was given by enteral tube which has usually been reported when the vitamin is given intravenously. Use of low doses of pyridoxine in multivitamin supplements could be a confounding factor for early diagnosis and appropriate treatment of pyridoxine-dependent seizures.

This study examines the reliability of the Melbourne Assessment of Unilateral Upper Limb Function: a quantitative test of quality of movement in children with neurological impairment. The assessment was administered to 20 children aged from 5 to 16 years (mean age 9 years 10 months, SD 2 years 10 months) who had various types and degrees of cerebral palsy (CP). The performances of the 20 children during assessment were videotaped for subsequent scoring by 15 occupational therapists. Scores were analyzed for internal consistency of test items, inter- and intrarater reliability of scorings of the same videotapes, and test–retest reliability using repeat videotaping. Results revealed very high internal consistency of test items (α=0.96), moderate to high agreement both within and between raters for all test items (intraclass correlations of at least 0.7) apart from item 16 (hand to mouth and down), and high interrater reliability (0.95) and intrarater reliability (0.97) for total test scores. Test–retest results revealed moderate to high intrarater reliability for item totals (mean of 0.83 and 0.79) for each rater and high reliability for test totals (0.98 and 0.97). These findings indicate that the Melbourne Assessment of Unilateral Upper Limb Function is a reliable tool for measuring the quality of unilateral upper-limb movement in children with CP.

‘But what are the prospects for the future, Doctor?’ This question is frequently asked by parents of children with learning disability. But longitudinal studies of the outcome in adulthood of childhood learning disability are lacking. At the same time, extrapolating prognoses from the available evidence is unreliable. Increasingly, however, clinicians are faced with this basic question that is on the minds of parents who have gleaned ‘information’ from other sources, notably the internet. So, what can be usefully and reliably claimed regarding outcome in adulthood for children with learning disabilities?

Pallidal stimulation is widely used in the treatment of movement disorder in adults but is less well reported in the treatment of dystonia in children. Despite inconsistent results in the past, its use in dystonia in Parkinson's disease is again attracting interest with promising results. Bilateral as well as unilateral pallidotomies have been performed and are felt to be required in some cases of dystonia. Use of depth electrodes to provide long-term electrical stimulation to pallidum and other basal ganglia structures has recently become more widespread. This technique is felt to have a lower morbidity, especially in bilateral procedures. Here we present the case of an 11-year-old boy with severe hyperkinetic movement disorder who showed sustained improvement after bilateral pallidal stimulation implantation.

The aim of this study was to assess the effect of early provision ([les ] 8 years) of a powered wheelchair (PWC) in children with tetraplegia. Twenty-nine children (15 males, 14 females; mean age 6 years 3 months, age range 3 to 8 years) with spastic or dystonic tetraplegia were studied. All participants had severe motor impairment. Treatment outcomes were investigated in several dimensions of disablement: Impairment, Functional Limitation/Activity, Disability/Participation. It was found that the level of independence improved significantly after PWC provision, while motor impairment, IQ, and quality of life did not. The majority of children (21 of 27) reached a level of driving competence which allowed them to move around with or without minimal (i.e. verbal) adult support. Achievement of this competence was not statistically related to IQ or motor impairment but correlated to the time spent in the PWC. The majority of parents (21 of 25) were not in favour of the PWC when the study started but after PWC provision, 23 of 25 parents expressed positive feelings about it. Reactions of the majority of children (23 of 25) were positive from the beginning of the study and did not change over time. The authors concluded that PWCs can aid independence and socialization and the majority of children can achieve a good-enough driving competence, even those with severe learning disability or motor deficit. PWCs should not be viewed as a last resort but as a means of providing efficient self-locomotion in children with a severe motor deficit.

Intrauterine growth retardation (IUGR) due to placental dysfunction is a risk factor for an impaired neurodevelopmental outcome. This is the case particularly in growth-retarded foetuses whose conditions in utero are so compromised that they have to be delivered before term. In recent years, neonatal treatment and care have improved markedly, and this has led to increased chances of survival of very immature and extremely low-birthweight infants. The optimal time to deliver IUGR infants remains difficult to assess. There is an obvious need for methods that accurately monitor foetal and neonatal condition, and it is important that the implications of these methods are evaluated for the neurodevelopmental outcomes of these infants. It is vitally important to be able to predict the outcome, whether it is normal or abnormal. A method that covers both aspects is the qualitative assessment of spontaneous motility of foetuses and newborn infants.

Functional MRI (fMRI) of the visual cortex was evaluated in 42 sedated 18-month-old infants (mean corrected age; 31 males, 11 females) with or without periventricular leukomalacia (PVL). Data from 14 infants could not be evaluated because of movement artefacts. Ten of the remaining 28 infants showed no significant fMRI response upon visual stimulation. In 18 infants, a significant signal change upon stimulation was found in the visual cortex: in 17 a signal decrease and in one a signal increase. Functional changes were located mainly in the anterior part of the visual cortex. Seven of the 28 infants had normal MRI and 21 showed variable occipital PVL. An fMRI response was equally frequent in infants without PVL (4 of 7 infants) and with PVL (14 of 21 infants). In conclusion, fMRI was shown to be feasible in sedated infants. No correlation was found between functional activation and the presence or absence of occipital PVL. Type of fMRI response (signal decrease) and localization (anterior part of the visual cortex) are different from those seen in adults, probably reflecting a combination of sedation effects and immaturity of the visual system. At present, fMRI is a highly promising research tool; its clinical relevance still has to be established.

Two children who presented with symptomatic metabolic acidosis after being put on topiramate (TPM) are reported. The first patient was an 11-year-old male with refractory complex partial epilepsy who was put on TPM for 13 months. He developed hyperventilation 1 week after increasing the dose to 300mg/day. Arterial blood gas revealed hyperchloraemic metabolic acidosis with partial respiratory compensation: pH 7.36, PCO2 27.2 mmHg, bicarbonate 14.9 mEq/L, base excess –8.9 mmol/L. Hyperventilation and acidosis resolved after administration of sodium bicarbonate and reduction of the dose of TPM. The second patient was a female who developed increasing irritability at age 16 months and 21 months, each time associated with introduction of TPM and resolved promptly upon withdrawal of the drug. Venous blood gas taken during the second episode revealed pH 7.34, PCO2 37.4 mmHg, bicarbonate 20.4 mEq/L, base excess –4.2 mmol/L. The predominant mechanism of TPM-induced hyperventilation involves inhibition of carbonic anhydrase at the proximal renal tubule, resulting in impaired proximal bicarbonate reabsorption. The occurrence of hyperpnoea or mental status change in any patient who is on TPM should prompt an urgent blood gas sampling, with correction of the acid-base disturbances accordingly.

The efficacy and safety of gabapentin as add-on therapy for refractory partial seizures in 237 children, aged 3 to 12 years were evaluated over a 6-month period. All children received gabapentin at 24 to 70mg/kg/day. Efficacy variables included the percent change in seizure frequency and the responder rate (defined as those patients who showed >50% reduction in seizure frequency). For all partial seizures, the median percent change in seizure frequency was –34% and the overall responder rate was 34%. Simple partial seizures showed a median reduction of –53%; complex partial seizures, –38%; and secondarily generalized tonic–clonic seizures, –35%. Thirteen patients (5%) withdrew during the 6-month period because of adverse events. Concurrent antiepileptic medication remained unchanged in 185 patients (78%), was decreased in 27 (11%), and increased in 25 (11%) patients. This 6-month follow-up study has demonstrated that gabapentin was well tolerated and appeared to show a sustained efficacy in a large population of children with refractory partial and secondarily generalized tonic–clonic seizures.

Gliomatosis cerebri is the unifying term used when diffuse glial infiltration occurs throughout the cerebral hemispheres. The very few cases reported in children have presented with intractable epilepsy, corticospinal tract deficits, unilateral tremor, headaches, and developmental delay. Antemortem diagnosis is difficult because of the vagueness of the physical, radiological and pathological findings. Adult cases may simulate an acute diffuse encephalomyelitis and show postmortem evidence of a marked swelling of the spinal cord. Apparently benign intracranial hypertension with papilloedema has also been recorded. We report a 10-year-old girl who presented with a history and physical signs suggestive of benign intracranial hypertension. A diffuse encephalomyelopathy occurred, which was complicated by spinal cord swelling, followed by deterioration and death. Gliomatosis cerebri affecting the brain and spinal cord was found at postmortem examination.

In this report, an unusual intracranial haemorrhage in a term male infant born to a mother with diabetes is explained on the basis of occlusion of both basal veins of Rosenthal. This diagnosis relies on anatomical location and iconographic aspect of the clots. Evidence that this vessel is occluded cannot be ascertained from ultrasound or MR angiographic techniques in the neonatal period. The basal vein has not been implicated in previous reports of neonatal brain haemorrhage.

For a better understanding of the contribution vision makes to the development of other sensory systems and to movement and posture, we studied effects of early blindness by examining video recordings of 14 totally blind infants. Infants were born at term or preterm and showed no evidence of brain damage. During preterm and term periods no noticeable changes in motor activity were observed. Around 2 months postterm all infants showed clear delay in head control and abnormal, exaggerated type of ‘fidgety movements’. Later, postural control was characterized by a prolonged period of ataxic features. Results indicate a lack of normal calibration exerted by vision on proprioceptive and vestibular systems. Early visuomotor coordination such as coordinated eye–head scanning and head orientating were present but disappeared after several weeks.

Pyridoxine dependency was one of the first genetically mediated seizure disorders to be recognized. However, the biochemical abnormality and gene locus are still unknown. Knowledge about the condition has come from case reports and small clinical series. However, new features are still being recognized both clinically, as well as more predictably, from the application of new imaging techniques. Early onset seizures responsive to pyridoxine exist which do not appear to be the same disorder. In some parts of the world, high-dose pyridoxine is used in the treatment of other major seizure disorders of young children such as West syndrome.

The new antiepileptic drugs introduced over the last decade provide a welcome increase in the therapeutic options available for the 25% of children with epilepsy who remain refractory to traditional therapy. In the mid 1980s, vigabatrin (VGB) was the first of these to be made available in clinical practice. In 1997, the visual field deficits reported in association with VGB prompted a review of its place in the management of epilepsy. We provide an overview of the uses of VGB and a discussion of the difficulties which currently affect our clinical practice.