We have established a multisite, international database of 3500 individuals diagnosed with Tourette syndrome (TS). The male:female ratio is 4.3:1 for the total sample, with wide variation among sites; the male excess occurs at every site. Anger control problems, sleep difficulties, coprolalia, and self-injurious behavior only reach impressive levels in individuals with comorbidity. Anger control problems are strongly correlated with comorbidity, regardless of site, region, or whether assessed by neurologists or psychiatrists. The mean age at onset of tics is 6.4 years. At all ages, about 12% of individuals with TS have no reported comorbidity. The most common reported comorbidity is attention-deficit–hyperactivity disorder. Males are more likely to have comorbid disorders than females. The earlier the age at onset, the greater the likelihood of a positive family history of tics. An understanding of the factors producing these and other variations might assist in better subtyping of TS. Because behavioral problems are associated with comorbidity, their presence should dictate a high index of suspicion of the latter, whose treatment may be at least as important as tic reduction. The established database can be used as the entry point for further research when large samples are studied and generalizability of results is important.

To evaluate the clinical results of the treatment and to assess the factors that influenced the rate of scoliosis progression, a retrospective study of spinal orthosis in 86 patients with spastic quadriplegic cerebral palsy was performed. The mean age of the patients was 13.8 years (range 5 to 33 years). Their scoliotic deformities were treated with custom-moulded, polypropylene thoraco-lumbar-sacral orthoses. Cobb angles were measured on radiographs taken in a sitting position before treatment, in orthosis, and during follow-up. The mean initial Cobb angle was 68.4° (range 25 to 131°). The mean correction in orthosis was 25° (range 3 to 60°). Seventy-two patients had a follow-up period of more than 2 years. At the latest follow-up, average 6.3 years (range 2 to 14 years) after the start of treatment, the mean Cobb angle without orthosis was 93.1° (range 40 to 145°). The mean progression per year was 4.2° (range –3 to 21°). Linear multiple regression revealed that age and initial correction in orthosis were the only variables that significantly influenced the rate of progression. Twenty-two patients had no progression or progression <1.0° per year. Correction in orthosis was the only variable that predicted progression <1.0° per year in both age groups (<15 years and [ges ]15 years). Of the 57 patients who were still alive and had not undergone surgical fusion, 72% used their orthoses at a mean age of 22 years. Parents and caregivers expressed satisfaction with the use of orthosis, mainly because of improved sitting stability which gave better overall function.

A parental questionnaire was used to investigate the outcome for children who had had ischaemic stroke, who were seen at Great Ormond Street Hospital, London between 1990 and 1996. The results of functional assessments carried out by a physiotherapist and an occupational therapist, and of quantitative evaluations carried out by a neuropsychologist were used for validation where possible. The relationship between clinical and radiological factors and outcome were examined. The children were aged between 3 months and 15 years at the time of stroke (median age 5 years) and the period of follow-up ranged from 3 months to 13 years (median duration 3 years). Of the 90 children for whom data were obtained, 13 (14%) had no residual impairments. Outcome was good in 37 children (40%) and poor in 53 (60%) (defined according to whether impairments interfered with daily life). Agreement, as measured by Cohen's kappa, was good or very good between the parents' responses and the qualitative measures provided by the medical professionals and the therapists, but only fair to moderate for the quantitative measures provided by the neuropsychologists. This may reflect different parental perceptions of the physical and cognitive aspects of outcome. Younger age at time of the stroke was the only significant predictor of adverse outcome.

This study aimed to determine the frequency and outcome of possible cerebral herniation in relation to lumbar puncture (LP) in postneonatal infants and children with pyogenic meningitis in the tropics. Children with meningitis aged between 6 weeks and 15 years (mean age 4.07 years; n=123) were recruited consecutively over 3 ½ years at the University of Maiduguri Teaching Hospital, Nigeria. The frequency of possible herniation was determined by clinical evaluation in relation to the severity of illness (high versus low risk) on presentation and performance of LP. Previously described scoring schemes were used. Eighteen (15%) patients had evidence of herniation on presentation. The relative risk (RR) of herniation in high- versus low-risk patients was 66.6 (9.3 to 477.1, 95% CI), p<0.0001 while the RR of death or neurological sequelae in high- versus low-risk patients was 2.6 (1.8 to 3.7, 95% CI), p<0.0001. In 99 patients with known outcomes who had LP on presentation, 21 of 81 without herniation pre- or post-LP, four of four with herniation pre- and post-LP, seven of eight with herniation post-LP only, and five of six with herniation pre-LP only died or recovered with sequelae (χ2 = 25.24, df = 3, p<0.0001). It is concluded that outcome depends on the severity of illness and the presence and timing of herniation. A policy of selective rather routine LPs may improve the outcome in meningitis in developing countries.

Children with developmental language impairment (LI) are defined partly by the absence of other identifiable neurological diagnoses. Such children are generally considered to be neurologically normal, but no systematic studies of neurological function have been reported. We obtained detailed medical histories and conducted neurological examinations for 72 children aged 5 to 14 years with LI and 82 typically developing age-matched control children. All the children took a standardized test of language, and those who were at least 8 years old and were willing to have brain MRI scans (35 children with LI and 27 control children) had scans. Analysis of developmental milestones from the medical histories revealed that children with LI were not only significantly later in speaking, but also mildly but significantly delayed in motor milestones, particularly walking. On neurological examination, abnormalities were found in 70% of the children with LI and only 22% of the control children. The most common abnormalities in the LI group included obligatory synkinesis, fine motor impairments, and hyperreflexia. The children with LI with the most abnormal neurological findings had the lowest language scores. Finally, 12 of 35 children with LI had abnormalities on their MRI scan, while none of the 27 control children had abnormal scans. Abnormal findings included ventricular enlargement (in five), central volume loss (in three), and white matter abnormalities (in four). These findings suggest that developmental LI is not an isolated finding but is indicative of more widespread nervous system dysfunction. Children with LI may need more comprehensive intervention programs than language therapy alone, depending on their other areas of dysfunction. Early identification of such problems may allow for more successful remediation.

The assumption that children born preterm have difficulties in maintaining active attention was tested in passive and active tasks. Twenty 5-year-old children born preterm at 26 to 32 weeks gestational age were compared with 20 children born at term, matched for age and IQ, using an auditory paradigm. In the passive task participants had to watch a videotape of a cartoon and ignore auditory stimuli. In the active task they had to detect a rare tone (the ‘target’ tone; 10% of the tones presented) among frequent tones (the ‘standard’ tone; 90%). Accuracy and reaction time were analysed, and event-related potentials (ERPs) were recorded at the scalp sites Fz, Cz, T3, T4, Pz, Oz, and two electrodes for the left mastoid (passive task); and Fz, F7, F8, Cz, T3, T4, Pz, and Oz (for the active task). Behavioural and electrophysiological data were analysed with repeated-measure ANOVAs. The results showed a significant group effect only on the active task. The preterm group scored fewer correct hits (correct detection of target tone) and were less efficient in their attentional strategy as assessed by ERP components.

Dichotic listening performance was studied in children who at an early age had undergone a myringotomy with insertion of ventilating tubes for persistent middle ear infections (otitis media with effusion; OME) and compared with age-equivalent children who had no history of otitis media or hearing problems. The OME group consisted of 19 children with a median age of 9 years; 15 of whom were right-handed, and 14 were boys. The comparison sample comprised 18 children with a median age was 9 years 4 months. Hand preference and sex were matched with the OME group. Both groups were tested with dichotic listening to consonant–vowel syllables and additional forced-attention tasks. The comparison sample showed a weak right-ear advantage, and age-adequate attentional modulations. The children in the OME group showed a strong right-ear advantage, but were not able to modulate the ear advantage during directed-attention tasks. Models for interpreting the result are discussed.

This study compares the urinary excretion of the main melatonin metabolite, 6-sulfatoxymelatonin (6SMT), in infants who have and have not experienced a life-threatening event (ALTE). 6SMT was assessed in the following groups of infants: 15 infants with ALTE for whom home monitoring had been recommended, 15 infants who had had an abrupt cyanotic apneic event but did not require mouth-to-mouth resuscitation, 15 siblings of those who had died from sudden infant death syndrome (SIDS), and 35 age-matched healthy comparison infants. All 80 infants were between 48 and 58 weeks of postconceptional age. On a double-blind basis, the total amount of 6SMT excreted over 24 hours and the diurnal rhythm in the rate of 6SMT excretion were assessed using urine samples taken from disposable diapers (nappies). The mean daily excretion of 6SMT was significantly lower in the ALTE (1588ng/24 hour) than in the comparison infants (3961ng/24 hour). No such difference was found between the infants with a cyanotic apneic event (3268ng/24 hour) and the SIDS siblings (2962ng/24 hour). The diurnal 6SMT rhythms in the ALTE infants were characterized by lower 24-hour mean and amplitude values, whereas the time of peak and nadir excretion rates (07:15 to 08:45 hours and 14:45 to 16:15 hours respectively) was similar in all four infant groups. Follow-up of the ALTE infants, performed 6 to 8 weeks later (59 to 66 weeks of postconceptional age), revealed that 6SMT excretion increased in all of them, suggesting a delayed ontogeny rather than permanent deficiency of melatonin production in ALTE.

The case of a Yemeni girl with isolated peroxisomal acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT) deficiency is reported. She had rhizomelic chondrodysplasia punctata, microcephaly, failure to thrive, delayed motor and mental development, and spastic quadriplegia. Deficient de novo plasmalogen synthesis in her fibroblasts as a result of low DHAPAT activity was found, while her very-long-chain fatty acid profile, phytanic acid concentration, alkyl-dihydroxyacetonephosphate synthase (alkyl-DHAP synthase) activity, and peroxisomal 3-ketoacyl-CoA thiolase protein were normal. A mutation in her DHAPAT complementary DNA resulted in the substitution of an arginine residue in the protein at position 211 by a histidine (R211H). Magnetic resonance imaging showed abnormal white matter signal in the centrum semiovale involving the arcuate fibers, while the corpus callosum was normal. DHAPAT and alkyl-DHAP synthase initiate the synthesis of plasmalogens, which are major constituents of myelin phospholipids. The reported girl's abnormal formation of myelin is probably related to the inadequacy of plasmalogen biosynthesis, which is likely to be due to deficient DHAPAT activity.

Intermittent electrical stimulation of the cervical vagus nerve (VNS) with an implanted pulse generator is a new adjunctive treatment for severe seizure disorders. In two large, prospective, double-blind randomized controlled trials involving more than 300 patients, VNS reduced seizure rates by 25% within 3 months. A 3-year follow-up study of these and 125 additional patients indicated that efficacy was maintained; seizure rates were reduced by 45%. General reviews on VNS in adults, and mechanisms of action are given by McLachlan and Schachter and Saper.