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 tonic stretch reflex threshold in children with cerebral palsy (CP) was measured to determine its test–retest reliability and its concurrent validity as a potential measure of spasticity. Fourteen children with spastic CP aged 6 to 18 years were tested on three separate occasions for clinical spasticity and stretch reflex thresholds of affected elbow flexors. Electromyographic (EMG) recordings were obtained by surface electrodes for elbow flexors and extensors during mechanical displacements of the passive joint towards extension. Displacements were produced by a torque motor at seven velocities which randomly varied from trial to trial. EMG activity was measured in the stretched flexor muscles to determine threshold angles and velocities for each velocity of stretch. These were plotted on a velocity–angle-phase diagram and regression analysis was used to determine the static stretch reflex threshold for each participant. The measure showed good test–retest reliability for the group (ICC 0.73, p<0.001) whereas a significant correlation between the measure and the clinical spasticity scale was not found. This technique is a potential outcome variable for measuring the efficacy of treatments aimed at decreasing spasticity in children with CP.

The introduction of advanced assisted reproduction technologies (ART) has created opportunities for the treatment of infertility among patients with myelomeningocele (MMC). The aim of this study was to assess the possibility of semen retrieval and to analyse the semen quality in men with MMC. Nine men, aged 22 to 39 with MMC participated in the study. Two participants were able to achieve unassisted ejaculation. Vibratory stimulation was unsuccessfully attempted in the remaining seven participants who then underwent electroejaculation under general anaesthesia. In total, enough spermatozoa for intracytoplasmic spermatozoa injection were retrieved from five participants. In four cases, no spermatozoa were observed in the ejaculates. Testicular biopsies, however, revealed spermatogenesis, and thus a reproductive potential, in one of these men. Therefore, in six of the nine men with MMC, fatherhood seemed possible with modern ART, despite the semen quality generally being very poor.

The effects of dietary docosahexaenoic acid (DHA) supply during infancy on later cognitive development of healthy term infants were evaluated in a randomized clinical trial of infant formula milk supplemented with 0.35% DHA or with 0.36% DHA and 0.72% arachidonic acid (AA), or control formula which provided no DHA or AA. Fifty-six 18-month-old children (26 male, 30 female) who were enrolled in the trial within the first 5 days of life and fed the assigned diet to 17 weeks of age were tested using the Bayley Scales of Infant Development, 2nd edition (BSID-II) (Bayley 1993) at the Retina Foundation of the Southwest, Dallas, TX. These children had also been assessed at 4 months and 12 months of age for blood fatty-acid composition, sweep visual evoked potential (VEP) acuity, and forced-choice preferential looking (FPL) acuity (Birch et al. 1998). Supplementation of infant formula with DHA+AA was associated with a mean increase of 7 points on the Mental Development Index (MDI) of the BSID-II. Both the cognitive and motor subscales of the MDI showed a significant developmental age advantage for DHA- and DHA+AA-supplemented groups over the control group. While a similar trend was found for the language subscale, it did not reach statistical significance. Neither the Psychomotor Development Index nor the Behavior Rating Scale of the BSID-II showed significant differences among diet groups, consistent with a specific advantage of DHA supplementation on mental development. Significant correlations between plasma and RBC-DHA at 4 months of age but not at 12 months of age and MDI at 18 months of age suggest that early dietary supply of DHA was a major dietary determinant of improved performance on the MDI.

Predictive validity and clinical implications of the increasingly popular Bayley Infant Neurodevelopmental Screener (BINS) risk status classifications have not been previously reported. In this longitudinal follow-up study, the BINS was administered to high-risk infants at 6, 12, and 24 months of age, and the McCarthy Scales at 3 years of age. Ninety-two children were evaluated at 6 and 36 months, 105 at 12 and 36 months, and 118 at 24 and 36 months; 190, 125, and 140 infants were included in the comparisons at 6 to 12, 6 to 24, and 12 to 24 months. BINS risk status was classified as low, moderate, or high; or as a binary variable, LOWRISK/HIGHRISK. The three BINS items groups were moderately correlated. Consistency was most variable in the moderate-risk group. BINS risk was predictive of 36-month function in 18 out of 18 comparisons. Odds ratios, ranging from 2.76 to 54.70, were significant in 15 out of 18 logistic models. An early high-risk classification was associated with increased probability of later developmental morbidity. The BINS offers an alternative to detailed assessment in high-volume clinical applications and has good concurrent and predictive validity.

The neurotrophin nerve growth factor (NGF) is a major regulator of peripheral and central nervous system development. Serum NGF was measured in normally developing control children (n=26) and in individuals affected by congenital syndromes associated with learning disability: either Williams syndrome (WS; n=12) or Down syndrome (DS; n=21). Participants were assessed at three distinct developmental stages: early childhood (2 to 6 years), childhood (8 to 12 years), and adolescence (14 to 20 years). A sample was taken only once from each individual. Serum NGF levels were markedly higher in participants with WS, than DS and control participants. In addition, different developmental profiles emerged in the three groups: while in normally developing individuals NGF levels were higher in early childhood than later on, children with WS showed constantly elevated NGF levels. When compared to control participants, those with DS showed lower NGF levels only during early childhood. Neuropsychological assessment confirmed previously reported differences among the three groups in the development of linguistic/cognitive abilities. Some features of individuals with WS, such as hyperacusis and hypertension, could be related to high-circulating NGF levels.

Set-shifting is an important aspect of attention and regulation of behaviour. The ability of young children to shift set is debated. Set-shifting is usually examined using sorting tasks that are designed for adults and hence are inadequate for children. In this study, an experimental Sorting Task for Children (STC) is administered to 54 healthy children (aged 4 to 10 years) and compared with a widely used adult sorting task, the Modified Card Sorting Test. This experiment shows that preschool children are capable of set-shifting. An extensive error analysis of the STC reveals that perseverations are not predominant. Hence, set-shifting in young children may be characterised by ‘trial and error’ rather than by being stuck in a mental set, which is suggested to be typical of adults with frontal lobe damage. A pilot study of 10 children with idiopathic or cryptogenic epilepsy shows unstable set-shifting rather than inability to shift set, which is concordant with known problems in regulation of behaviour.

This study was designed to compare assessment with the functional outcome measures Gross Motor Function Measure (GMFM) and Pediatric Evaluation of Disability Inventory (PEDI) over time, in children with cerebral palsy (CP) undergoing selective dorsal rhizotomy combined with individualised physiotherapeutic interventions. Using the Gross Motor Function Classification System (GMFCS), 18 children with spastic diplegia were divided into two groups according to age-related severity of motor function impairment. Data were collected preoperatively, and at 6 and 12 months postoperatively. Both instruments were sensitive to changes in function over time in the series as a whole and in the group with milder impairment, although the PEDI detected significant changes earlier. In the group with more severe impairment, changes in function were detected only with the PEDI, not with the GMFM. Thus, the instruments are to be considered complementary tests, because they measure different aspects of function.

To obtain a preliminary validation of the Non-Communicating Children's Pain Checklist for individuals with inability to communicate verbally, 32 caregivers of individuals with cognitive impairments aged 3 to 44 years retrospectively completed the Non-Communicating Children's Pain Checklist and rated item usefulness (0 to 10). In the second part of the study 33 caregivers completed the checklist after two painful (e.g. burns, falls, surgery), one distressful (e.g. unwanted grooming, feared animal/noise), and one calm event (e.g. watching television). Checklist scores did not correlate with the age, sex, or physical limitations of individuals with inability to communicate verbally. In the first part of the study Cronbach's alpha was 0.66; all mean usefulness ratings exceeded 5 out of 10. In the second part of the study after four items were removed, Cronbach's alpha was 0.79. Checklist scores during pain correlated with numerical ratings of pain intensity, did not differ between the two pain events, and differed significantly from calm scores. Differences in Checklist scores during pain and distress were found for two subscales. The checklist exhibits internal consistency, and preliminary evidence suggests it can detect pain and is reliable over time.

Twenty-five children (21 males, 4 females; mean age 4.8 years) with attention-deficit-hyperactivity disorder (ADHD) participated in this study in addition to 25 typically developing children (21 males, 4 females; mean age 4.9 years). Parental ratings of the preschool children and preschool child self-ratings were examined within the framework of three domains: behavioral disturbance, social competence, and familial environment. Compared to their typically developing peers, preschool children classified as having ADHD were rated by their parents as significantly more aggressive, more demanding of parental time, less socially skilled, less adaptable to change in routine, and as exhibiting more non-compliance. In contrast to these parental ratings, preschool children with ADHD perceived themselves as equally competent, and as socially accepted as their peers. Parents of preschool children with ADHD rated themselves as less competent parents, and as experiencing a restricted parenting role. Although parenting a preschool child with ADHD was viewed as stressful, the parents did not rate general family functioning to be adversely affected.

Two-hundred and fifty-one children (98 girls and 153 boys, aged from 3 to 17 years) with documented diagnosis of epileptic syndrome, IQ measurement, and information on school placement were included in this retrospective study. The relations between these three parameters as well as effects of age at onset and duration of epilepsy, seizure frequency, and number of antiepileptic drugs (AEDs) were analysed. Both IQ and schooling were univariately related to epileptic syndrome, age at onset and duration of epilepsy, and number of AEDs; seizure frequency was related to IQ but not to school placement. Multiple regression showed that IQ was independently related to epileptic syndrome and AED; multiple logistic regression showed that type of school (mainstream versus adapted or special) was independently related to IQ and AED. Children with idiopathic generalised or with localisation-related epilepsy had higher IQ scores and higher probability of mainstream schooling than those with symptomatic or cryptogenic generalised epilepsies or epileptic syndromes which were undetermined. Subtests profile of intelligence scale in localisation-related epilepsies showed different specific cognitive deficits, according to the location of the epileptic focus.

The aim of this study was to assess visual function, including visual perception, in a geographically-based population of school-aged children, with a median age of 7.2 years (range 5.1 to 9.3 years), born before 29 weeks of gestation to mothers living in Göteborg, Sweden. Fifty-one preterm children participated in the study, six of whom had known brain lesions. Visual acuity, visual fields, stereoacuity, and visual perception were tested. The Test of Visual Perceptual Skills – Revised (TVPS-R, Gardner 1996) was used to measure visual perception, and the results were compared with those of 50 term (control) subjects. Six percent of the preterm children were visually impaired, with a visual acuity of less than 0.3 (6/18), while 42% of all the preterm children and 34% of those without known brain lesions had a total score below the 5th centile of the reference material for the test, compared with 14% of the control subjects. In conclusion, visual–perceptual problems seem to be common among very preterm children and should be screened for and assessed before the children start school.

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.

This study evaluates the reliability of isokinetic testing of the knee flexors and extensors in children with cerebral palsy (CP). Twelve children (seven girls, five boys), aged 9 to 15 years, participated in this study. The children's strength was measured bilaterally, using a dynamometer. Each participant was tested twice at an interval of 1 week. During each session, the participant performed five consecutive cycles of knee extension and flexion. Testing velocity was set at 90°/s, and the range of motion was 80°, starting with the knee flexed at 80° and ending in full extension. The measured variable was the peak torque. Reliabilities were determined using intraclass coefficient (ICC) with two-way ANOVA model. The ICCs for individual sessions range from 0.90 to 0.99. ICCs for the eight repetitions over the two sessions range from 0.95 to 0.98. The findings indicate that measuring isokinetic strength in the tested population is highly reliable and should be considered in rehabilitation protocols.

The non-invasive Exeter Dysphagia Assessment Technique (EDAT) was evaluated as a method of assessing the aetiology of dysphagia in children with cerebral palsy (CP). Data have been collected from a group of 20 typically developing children (nine girls, 11 boys; age range 7 to 14 years) for comparison with 125 dysphagic children with CP (81 boys, 44 girls; age range 1 to 18 years). The swallowing mechanism has been separated into physiological phases: anticipatory, delivery, oral transit, and oral–pharyngeal. Normal or abnormal function in each phase was recorded and the common causes of any impaired phase were considered, starting with generalized possibilities before focusing on specific parts of swallowing physiology. Data from 125 dysphagic children with CP show marked differences from the data for the typically developing children. Interpreting individual results was valuable in assisting the assessment team to formulate management strategies; two examples are presented. The technique appears to provide a cost effective, non-invasive, and valuable clinical tool.

This study aimed to determine whether sodium valproate (VPA) improves cognitive performance and behaviour in children with learning and behavioural problems associated with electrographic epileptiform discharges but without clinical seizures. A randomized, double-blind, single-crossover trial was carried out with VPA or placebo on eight participants with different learning and behaviour problems. Participants also underwent neuropsychological testing under video EEG and the parent and teacher Behaviour Check List (CBCL; Achenbach 1991a, b) during each treatment phase. Clinically none of the children improved on VPA. On formal testing children were more distractable, had increased delay in response time, and showed lower memory scores while on VPA. In addition, parents reported higher internalizing scores on the CBCL while children were on VPA. Our data do not support the use of VPA in similar patients.

Objective measures (kinematics and kinetics) were used to study prospectively the effects of botulinum toxin A (BTX/A) on the gastroc–soleus muscle in ambulant children with cerebral palsy. In this prospective before and after trial, 15 children with diplegia and 10 children with hemiplegia were studied (mean age 5 years 7 months, range 4 years to 9 years). A range of standardized clinical measures was undertaken but the emphasis for this report is on the three-dimensional gait analysis (3DGA) results. All children showed improvements in sagittal ankle kinematics, as has been previously reported. Two new measures of ankle kinetics were devised: ankle moment quotient (AMQ), and ankle power quotient (APQ). Before intervention, ankle moments were characterized by a ‘double bump’ ankle moment. A typical abnormal baseline ankle-power curve was triphasic with an initial trough of absorption followed by abnormal mid-stance power generation, instead of the usual A1 pattern, and reduced terminal stance power generation (A2). Three weeks after treatment with BTX/A alone there was a statistically significant improvement of AMQ and APQ; some patients required potentiation of BTX/A with a short period of serial casts. Both groups (BTX/A alone and BTX/A plus casting) continued to show improvement in ankle kinetics from baseline after 12 and 24 weeks. This is the first study to demonstrate improvements in the typical abnormal ankle kinetics which we believe provides evidence of the ‘biomechanical transformation of muscle’.

In order to validate the movement problems in daily life for girls with Turner syndrome (TS), as reported by teachers, parents, and the girls themselves, we examined whether these girls have impaired motor ability and a specific pattern of motor impairment. As TS phenotypes are characterized by a particular profile of normal Verbal IQ (VIQ) and lowered Performance IQ (PIQ), we investigated whether there is a significant correlation between intelligence scores and motor performance scores. Fifteen girls with TS (age range 5.8 to 12.5 years), of whom nine had 45XO karyotype and six girls mosaic karyotype, were individually tested on the Movement Assessment Battery for Children (MABC; Henderson and Sugden 1992, Smits-Engelsman 1998), and the Wechsler Intelligence Scale-Revised (WISC-RN; Vander Steene et al. 1986). Mean percentile score on the MABC was 2.93 (range 1 to 8). Based on the total score of the MABC, none of the girls with TS fell into the ‘normal’ range; five patients were classified as ‘at risk’ and 10 as ‘impaired’. Girls with TS made more errors and needed more time across all items tested; no specific profile of impairment was observed and no significant correlation between intelligence scores and motor performance scores was found. The results clearly demonstrate that girls with TS indeed experience a significant general motor impairment. The motor problems apparently cannot be attributed to cognitive problems.

Inter- and intrahemispheric somatosensory functions were evaluated in blinded tests of 11 children with partial and complete agenesis of the corpus callosum (age range 2 years 8 months to 11 years 9 months) and compared with those of age- and sex-matched control individuals both normally developing and with neurological impairment. Tests included uni- and bimanual measures of stereognosis, haptic visual discrimination, kinaesthesis, and texture matching. Children with callosal absence displayed significant difficulties with many somatosensory functions, but most deficits were no greater than those of the children who had neurological dysfunction and an intact corpus callosum. Children with callosal absence, however, had significantly greater difficulty with bimanual texture matching, seemingly because this task required refined spatial interpretation of somatosensory input. Response times for the individuals with callosal absence were significantly greater than those for control participants with neurological impairment on several tasks in which overall accuracy of performance among groups did not significantly differ. These findings suggest that children with agenesis of the corpus callosum may have less efficient and slower processing capacity for certain types of somatosensory information. Possible compensatory mechanisms are discussed.

The purposes of this study were to evaluate whether resistance to stretch could be measured in a reproducible manner from day to day in children with severe multiple disabilities, and whether 6 weeks of daily activity, including one daily stretch, would modify passive resistance to stretch. Passive resistance to stretch was measured in six children using an established model that synchronously and continuously measured knee flexion moment (Nm) and EMG activity of the hamstring, while the velocity and angle of a static stretch was controlled. Resistance to stretch was evaluated in the absence of EMG activity. Measurements were taken on two separate occasions with a 2-week hiatus, and before and after a 6-week activity period which included a daily 1-minute static stretch. There was no significant change in resistance to stretch when tested 2 weeks apart (test 1, 8.6±1.2Nm; test 2, 8.3±1.2Nm, p<0.05) which yielded a strong correlation coefficient (Spearman r=1.0, p<0.01; Pearson r=0.953, p<0.01). Similarly, there was no difference in resistance to stretch before and after the 6-week period (mean difference 0.22±0.75Nm, p<0.05). Data from this study demonstrate that resistance to stretch of the hamstring muscle group could be measured in a reproducible manner from day to day in children with multiple disabilities. Further, resistance to stretch was unchanged after 6 weeks of daily activity, including a daily 1-minute static stretch.