Neurology has always been considered to be based on a sound knowledge of basic neuroscience with a ‘Sherlock Holmes’ approach to localization in the brain. At a recent meeting of the editorial board of this journal, we were told by our distributors that some of the Clinics in Developmental Medicine had too much emphasis on basic neuroscience. I have been described as belligerent because of my constant nagging at these meetings about the lack of good basic research papers in the field of paediatric neurology. However, looking at other paediatric journals and performing a mental geographical tour of known paediatric research units, there does seem to be a genuine paucity of fundamental research in this area.

The aim of this retrospective study was to ascertain whether physiological derangement and potential secondary brain insult from raised intracranial pressure (ICP) or reduced cerebral perfusion pressure (CPP) in non-accidental head injury (NAHI) influences outcome. Any child who had a diagnosis of NAHI and had ICP monitoring or measurements during the acute illness was entered in the study. Seventeen children with an average age 5.1 months (range 1 to 20 months) were identified. Details of the acute encephalopathy, lowest mean arterial blood pressure (MAP), mean of maximum ICP measured, lowest CPP, and neurodevelopmental outcome at follow up were obtained from the hospital case notes. Seshia's (1994) outcome classification scale was used. The lowest CPP was very significantly related to outcome (P=0.0047, τ= −0.544). Mean of maximum ICP did not correlate with outcome. The lowest MAP was significantly related to outcome (P=0.039). It was concluded that the degree of secondary brain insult from reduced CPP influences outcome.

Thirty-nine ambulant children (22 with hemiplegia, 17 with diplegia) with spastic cerebral palsy receiving isolated gastrocnemius muscle injection with botulinum toxin A were studied prospectively. The children had a mean age of 6 years (range 3 to 13 years). Measurement of gastrocnemius muscle length was used to estimate the dynamic component of each child's spasticity and to quantify the response. There was a strong correlation between the dynamic component of spasticity before injection and the corresponding magnitude of the response after injection. Children undergoing repeated injections showed similar correlations. A strong correlation was found between the duration of response and the dynamic component. Children with hemiplegia showed twice the duration for a given dynamic component compared with those with diplegia when injected with the same total dose per unit body weight. Long-term lengthening did not occur for the cohort, although some patients showed a response at a 12-month follow-up. By delaying shortening, the injections may have a role in delaying the need for surgery. Injections were well tolerated with few side effects.

The purpose of this study, through a retrospective epidemiological survey carried out over three geographical areas in France, was to characterize the aetiological factors involved in severe mental retardation (SMR) within a geographically defined population of children with disabilities aged between 7 and 16 years. The inclusion criteria for SMR (IQ<50) were met by 1150 children born between 1976 and 1985. Of these children, aetiology was known in 25%, suspected (or unclear) in 26%, and unknown in 49%. These rates of known and suspected aetiology varied between the groups of children with CP and those without CP. An analysis of factors associated with SMR was undertaken among the 144 subjects with SMR, of suspected or unknown aetiology, who had been referred to a neonatal care unit with or without intensive care (NCU) during their neonatal period. These subjects with SMR were compared with 864 children without SMR (control children) who were also referred to an NCU during their neonatal period. The main specific associated factors were a prolonged intubation of more than 24 hours, a very low birthweight (<1500 g) for children with an associated clinical feature of CP, and the presence of isolated neonatal fits and a time of transfer to the NCU of more than 4 hours after birth for children without an associated clinical feature of CP. Although common associated factors were encountered in the children with SMR with CP and the children with SMR without CP, the results of this study suggest differences in the underlying pathogenic factors.

Data are presented on 157 newborn infants followed sequentially in a randomized home-based nursing-intervention trial for drug-exposed infants with follow up at 3 (N=118), 6 (N=124), and 12 months (N=77). The objectives of this study were to describe the longitudinal neurodevelopmental status of a cohort of children with intrauterine exposure to illicit drugs during their gestation, characterize the evolution of early tone abnormalities in a polydrug-exposed cohort, and determine whether neuromotor outcome is associated with drug-exposure patterns. For analysis, infants were grouped based on maternal drug-use pattern and the presence of drug metabolites in the neonatal drug screen. The sequential neuromotor examination was used at each age to define the neuromotor status of six domains and define categorical classifications as either normal, suspect, or abnormal. Multiple patterns of neuromotor abnormalities were observed during the neonatal period; most resolved over time. Axial hypotonia was a prominent finding in the neonatal period; however, it was infrequent in abnormal examinations at 12 months. Increased lower-extremity tone was a less frequent finding during the neonatal period. Infants whose neonatal urine drug screen was positive for both cocaine and opiates, were more likely than infants with negative urine drug screens, cocaine only, or opiate only drug screen results to have abnormal neuromotor examinations; while positive maternal drug screens for concurrent cocaine and opiate use were associated with peripheral hypertonia. Persistence of increased leg-extensor tone was found in 67% of the abnormal examinations at 12 months. Acquisition of rolling and walking was delayed in the drug-exposed cohort.

Developmental coordination disorder (DCD) occurs in a small but significant proportion of children who present with impaired body–eye coordination and show poor acquisition of motor skills. This study investigated the visual–proprioceptive mapping ability of children with DCD from a small selected group, with particular reference to the use of vision in matching tasks. The children with DCD in this study were significantly poorer than control children on all matching tasks. They seemed to have particular difficulty in cross-modal judgements that required the use of visual information to guide proprioceptive judgements of limb position. A distinction is drawn between tasks that can be achieved purely through sensory matching and those that require body-centred spatial judgements, suggesting that it is the latter that posits a particular difficulty for children with DCD.

Oral melatonin (MLT) has been used by our Vancouver research group in the treatment of paediatric sleep disorders since 1991; slightly over 200 children, mainly with multiple disabilities, who frequently had seizures, have been treated. Three children with markedly delayed sleep onset due to recurring myoclonus were also referred for MLT treatment: two had non-epileptic, and one had epileptic and non-epileptic myoclonus. Low doses of oral MLT (3 to 5 mg) unexpectedly abolished their myoclonus and allowed them to sleep. There were no adverse effects. It appears that certain types of myoclonus, which might be resistant to conventional anticonvulsant medications, may respond to MLT but the mechanism of action is unclear. Further research on this novel treatment is urgently needed.

Lesch–Nyhan syndrome (LNS) is a rare disorder of metabolism caused by a defective gene on the X chromosome. It is typically characterized by choreoathetosis, hypertonia, hyperreflexia, and self-mutilation. The present study is a 4-year follow-up investigation of the cognitive status of six subjects with a mean age of 17 years 10 months (range 14 years 9 months to 23 years). The Stanford–Binet Intelligence Scale: IV was used. Each of the four domains assessed by this battery (verbal reasoning, abstract/visual reasoning, quantitative, and short-term memory) was compared with previous findings of the same subjects at their initial test and 2-year follow up; the aim being to gain further insight into the clinical course of LNS over time. The results suggest that while the subjects generally continued to acquire new information and skills over time, their standardized scores declined, indicating that a plateau was reached in their skill levels relative to their peers, as also seen in other developmental disabilities. Deficits were noted in working memory, particularly on tasks that involve considering multiple features simultaneously.

This study is the first attempt to assess systematically the cognitive functioning in children diagnosed with typical cri du chat syndrome (CDCS) using neuropsychological test measures. Twenty-six children aged between 6 years 4 months and 15 years 5 months (mean 8 years 3 months) completed a battery of tasks measuring IQ level, receptive and expressive language skills, and articulation. Twenty-four children were in the severe learning-disability range with no specific verbal or performance profile. Using more finely tuned measures of cognition, however, a clear discrepancy in the pattern of language functioning was found with better receptive than expressive language skills. One implication of these findings is that parents and professionals should be more optimistic about the capacities of children with CDCS to understand more complex verbal commands than their expressive language skills would suggest.

This report describes a case of multisystem failure in a 5-year-old boy who was being treated with carbamazepine for a seizure disorder. Carbamazepine hypersensitivity was diagnosed from the combination of the clinical constellation and the results of the patient's peripheral blood monocyte proliferation responses to both carbamazepine and a panel of other medications.

Three children with CHARGE association (coloboma, heart defect, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and hearing defects) as well as concomitant autistic disorder are reported. Two of the children also had mental retardation. Several types of cerebral maldevelopment/dysfunction have been reported in CHARGE association. With regard to aetiology, involvement of the neural crest has been suggested. Autism in CHARGE association may represent a neuro-endocrine dysfunction. Children with a CHARGE association have many medical problems and therefore autistic behaviour can easily be overlooked. A multidisciplinary approach with respect to assessment, treatment, and habilitation is of vital importance.

Congenital paraplegia, with partial improvement over the first months of life, occurred in a female neonate born at 35 weeks' gestation, whose mother had suffered hypotension and hypoxaemia due to anaphylaxis 12 weeks earlier. Our patient subsequently had an acute encephalopathy during a respiratory illness with later developmental delay. We speculate that the baby's paraplegia resulted from spinal-cord ischaemia in utero. The aim of this report is to describe the spinal presentation.

Down syndrome (DS) is an autosomal chromosomal anomaly resulting from trisomy of all or a critical part of chromosome 21. It affects approximately 1 in 700 to 800 live births. Despite the development of prenatal diagnosis, the incidence of DS births is predicted to remain static or even to increase over the next decade, partly due to increased maternal age in Western societies. Many of the medical and physiological characteristics of DS have direct consequences for the oral health of subjects affected and indirect consequences for the quality of life of persons with DS and their carers. This article aims to give an overview of the current literature concerning the orofacial problems confronting patients with DS, and to explain the different treatment modalities available.