As President of the 16th Scientific Meeting of the European Academy of Childhood Disability, I have been privileged to influence the scientific programme and place some emphasis on issues of hand function. Thus we will enjoy being addressed at the Edinburgh meeting by Professor Sheila Henderson on the topic of ‘What makes handwriting so difficult?’.

Diagnosing cause of pain in children with severe cognitive impairments is difficult due to their problems with communication. Identification of risk factors for specific pain etiologies might help professionals in this task. The aim of this study was to determine whether child-related characteristics increase risk for specific types of pain. Participants were the caregivers of 41 females and 53 males with moderate to profound mental retardation, who were aged 3 to 18 years 8 months (mean 10:1, SD 4:4) but who communicated at the level of a typical child of 13.8 months (SD 10 months): 44 of the children had cerebral palsy (CP) and 59 a seizure disorder. Caregivers reported the cause of children's episodes of pain for four 1-week periods over 1 year. Logistic regression analyses were used to predict occurrence of specific types of pain using children's demographic, medical, and physical characteristics. Children had 406 episodes of pain due to accident, gastrointestinal conditions, musculoskeletal problems, infection, recurrent conditions, and common childhood causes. Results indicated that a unique set of risk factors predicted each pain type in this sample. Significant risk factors for pain included: lack of visual impairment and leg impairment (accidental pain); seizures, leg impairment, and greater number of medications (non-accidental pain); being male and tube fed (musculoskeletal pain); age <7 years, absence of CP, visual impairment, and less frequent medical monitoring (infection pain); being female and with arm impairment (gastrointestinal pain); and being tube fed and taking fewer medications (common childhood pains). In most cases, models were more specific than sensitive, indicating that the significant predictors are more useful for eliminating potential pain causes. These results suggest that population risk factors may be helpful in structuring diagnostic investigations for individual children with severe cognitive impairments.

An historical cohort study was conducted to investigate the rate and extent of neurological recovery in obstetric brachial plexus injury (OBPI) and to identify possible prognostic factors in a cohort of children with OBPI from birth to 7 years. All children (n=56; 31 females, 25 males) with OBPI were evaluated at fixed time intervals by one examiner. They underwent a final neurological examination at a mean age of 3 years 10 months (range 1 to 7 years). Neurological outcome was not as favourable as is often reported: complete neurological recovery occurred in 37 out of 56 children (66%). In half of these there was delayed recovery, in which case complete neurological recovery was assessed from 1.5 to 16 months of age (median age 6.5 months, SD 4.2 months). External rotation and supination were the last to recover and recovered the least. Although biceps function at three months was considered to be the best indicator for operative treatment, external rotation and supination were found to be better in predicting eventual complete recovery. Initial symptoms directly post partum were not found to be prognostic. Functional outcome was mainly reported to be good.

Impact of white matter abnormalities (WMAs) on neuropsychological functioning in children with early-treated phenylketonuria (ETPKU) was examined. Children with ETPKU (20 males, 12 females, mean age 11 years 2 months, SD 3 years 6 months) and controls (20 males, 14 females, mean age 10 years 4 months, SD 3 years 1 month) aged 7 to 18 years were assessed using tests of attention, processing speed, memory and learning, executive function, and academic achievement. Those with ETPKU, exhibiting WMAs extending into subcortical/frontal regions (n=14), displayed significant impairments in a number of domains. Children with ETPKU but no WMAs (n=6), or pathology restricted to the posterior periventricular region (n=12), displayed only mild deficits. Concurrent phenylalanine levels correlated weakly with cognitive parameters, whereas lifetime phenylalanine levels were associated with deficits in several cognitive domains. Impairments in children with extensive WMAs are consistent with compromised neural transmission, which is characterized by dysmyelination. However, children with no detectable, or mild WMAs, also displayed cognitive problems, indicating that neuropsychological functioning in children with ETPKU is determined by a complex interaction of biological and environmental factors.

The present study sought to describe the profile of sleep disturbance reported in children with autistic spectrum disorders (ASDs) and to document any sleep disorders underlying reports of sleeplessness. Sixty-nine children aged 5 to 16 years (mean 9 years 4 months, SD 2 years 7 months; 14 females) with an ASD were assessed by detailed sleep histories taken from parents, the Simonds and Parraga Sleep Questionnaire, a 2-week sleep diary, and actigraphs worn by the child for five nights. Parent-reported sleeplessness featured prominently (64%). Sleep disorders underlying the sleeplessness were most commonly behavioural (i.e. to do with inappropriate sleep-related behaviours), although sleep-wake cycle disorders and anxiety-related problems were also seen. In addition, the sleeplessness patterns of a large minority of children could not be classified by conventional diagnostic criteria. Sleep patterns measured objectively did not differ between those children with or without reported sleeplessness, but the sleep quality of all children seemed to be compromised compared with normal values.

Cerebral venous sinus thrombosis (CVST) is a rare but potentially serious disorder in children. There is no literature on the long-term neuropsychological and emotional sequelae and implications for quality of life. We studied 17 children who had CVST after the neonatal period, aged between 1 month and 16 years at the time of CVST (mean age at CVST was 6 years, median 4 years 8 months). Five children died during follow-up. The cause of death was related to CVST in one child. Twelve children participated in a clinical follow-up assessment. Mean follow-up was 2 years 8 months. One child had physical sequelae with impairment of skilled movement. All children had average or high intelligence scores. Two children with CVST due to an uncomplicated mastoiditis had mild cognitive deficits: one child had difficulty with written language; the other had diminished cognitive efficiency with concentration and attention problems associated with decreased psychosocial functioning. Decreased physical well-being was reported in three of 12 children. We conclude that children who had survived CVST had a fair prognosis. Most had normal cognitive and physical development, although mild cognitive deficits or decreased physical and psychosocial well-being can occur.

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.

Prolonged convulsive seizures are a common neurological emergency and a potential cause of neuronal damage and functional sequelae. We explored the role of seizure duration and various background factors for neurological sequelae in children with prolonged convulsive seizures. The population-base of this study was all children (age <16 years) who had been admitted to the Tampere University Hospital, Finland between 1993 and 1999 with convulsive seizures lasting more than 5 minutes. Patients were followed up individually (mean length of follow-up 2 years 1 month, range 0 to 7 years 8 months). All available data on the prolonged seizure episodes and clinical follow-up were analyzed retrospectively by a detailed review of all medical charts and records. In 186 children (94 males, 92 females; mean age 4 years 5 months, SD 3 years 10 months, range 1 month to 15 years 4 months) there were 279 separate convulsive seizure episodes lasting over 5 minutes, yielding an annual incidence of 47.5 out of every 100000 episodes. Seizure aetiology was idiopathic in 26.2% of episodes, febrile in 41.9%, remote symptomatic in 28%, and acute symptomatic in 3.9% of episodes. Mean duration of all seizure episodes was 42.5 minutes (SD 46.1 minutes) and was significantly correlated with the aetiology: shortest in the febrile group (mean 35.4 minutes) and longest in the acute symptomatic group (mean 88.6 minutes; p<0.001). There was no mortality related directly to these acute seizure episodes. The most common sequela was an onset of epilepsy in 40 children (22%). Permanent neurological sequelae were noted in only four patients (2.2%; mean seizure duration 16 minutes) and non-permanent sequelae in six patients (3.2%; mean seizure duration 38 minutes). Neurological sequelae of prolonged convulsive seizures in children are rare and are related to aetiological factors rather than the duration of a single seizure. The role of acute seizures in the evolution of epilepsy in children remains obscure.

In this study we assessed the distribution of spasticity, range of motion (ROM) deficits, and selective motor control problems in children with cerebral palsy (CP), and examined how these impairments relate to each other and to gross motor function and everyday activities. Ninety-five children (55 males, 40 females; mean age 58 months, SD 18 months, range 25 to 87 months) were evaluated with the modified Ashworth scale (MAS), passive ROM, the Selective Motor Control scale (SMC), the Gross Motor Function Measure (GMFM), and the Pediatric Evaluation of Disability Inventory (PEDI). Types of CP were hemiplegia (n=19), spastic diplegia (n=40), ataxic diplegia (n=4), spastic quadriplegia (n=16), dyskinetic (n=9), and mixed type (n=7). Severity spanned all five levels of the Gross Motor Function Classification System (GMFCS). The findings highlight the importance of measuring spasticity and ROM in several muscles and across joints. Wide variability of correlations of MAS, ROM, and SMC indicates a complex relationship between spasticity, ROM, and selective motor control. Loss of selective control seemed to interfere with gross motor function more than the other impairments. Further analyses showed that motor impairments were only one component among many factors that could predict gross motor function and everyday activities. Accomplishment of these activities was best predicted by the child's ability to perform gross motor tasks.

Fourteen participants (six females, eight males) ranging in age from 7 years 11 months to 18 years 2 months (mean 11y 7mo) with a confirmed diagnosis of spastic cerebral palsy (CP) were included in the study. Participants included those who drooled (CP+, n=14); age- and sex-matched children with spastic CP who were dry to mild and never to infrequent droolers (CP–, n=14) as well as typically developing peers (CTRL, n=14) served as controls. Frequency of swallowing was measured by using simultaneous cervical ausculation and videotaping of the head and neck. Saliva production was measured with the Saxon test, a simple gauze-chewing procedure. In addition, Pediatric Evaluation of Disability Inventory (PEDI), Test of Nonverbal Intelligence-3 (TONI-3), dysarthria severity scale, and Gross Motor Function Classification System (GMFCS) scores were obtained for each participant. Both groups of participants with CP tended to swallow less frequently than typically developing participants and tended to produce less saliva than typically developing controls; however, these differences were not statistically significant. No correlation was found between amount of saliva produced and amount drooled (r=0.245). An analysis of variance (ANOVA) conducted on the PEDI functional skills mean scores indicated significant differences between the three groups (F(2,39)=23.522, p<0.0001). Likewise, an ANOVA conducted on the TONI-3 scores revealed statistically significant differences between the three groups (F(2,39)=31.761, p<0.0001). A Spearman's rho correlation indicated that GMFCS scores were not significantly correlated with drooling severity (Spearman's rho correlation=0.3951, p=0.037). Drooling severity was found to be positively correlated with dysarthria severity (Spearman's rho correlation=0.82, p<0.0001). These findings suggest that drooling in patients with CP is related to swallowing difficulties rather than hypersalivation.

The objective of this study was to investigate the background and associated factors in a representative group of young males with Asperger syndrome (AS) presenting at a specialized autism clinic. One hundred males aged 5 years 6 months to 24 years 6 months, with a mean age of 11 years 4 months (SD 3y 10mo), who had a clinical diagnosis of AS were included in the study. An in-depth review of their medical records and neuropsychological test data was performed. There was a high rate (51%) of non-verbal learning disability (defined as Verbal IQ more than 15 points higher than Performance IQ), but otherwise there was little or no support for the notion of right-hemisphere brain dysfunction being at the core of the syndrome. There was a very high rate of close relatives with autism spectrum problems, but also high rates of prenatal and perinatal problems, including prematurity and postmaturity. In comparison with general population data, those with AS very often had a combination of genetic and prenatal and perinatal risk factors. Non-verbal learning disability test results applied in about half the group. There was a subgroup of individuals with AS who had macrocephalus. However, there was no support for an association of AS with low body mass index.

In order to define potential subgroups pertaining to the spectrum of ‘high-functioning’ pervasive developmental disorders (PDDs) the medical and psychiatric records of 101 children with PDD were reviewed. Ninety-one children had a diagnosis of Asperger syndrome, nine had a PDD not otherwise specified, and one had ‘high-functioning’ autism. Mean age of the children (71 males, 30 females) was 9 years 8 months (age range 5 to 12 years). Apart from the core dysfunctions of the PDD, i.e. deficient social interaction, communication and repertoires, and restricted interests, 95% had attentional problems, 75% had motor difficulties, 86% had problems with regulation of activity level, and 50% had impulsiveness. About three-quarters had symptoms compatible with mild or severe attention-deficit–hyperactivity disorder (ADHD) or had deficits in attention, motor control, and perception (DAMP), indicating a considerable overlap between these disorders and high-functioning PDD in children of normal or near-normal intelligence. A combination of affective dysregulation, thought disturbance, and severely restricted social interaction, referred to as a multiple complex developmental disorder (MCDD; a condition possibly related to schizoaffective disorder), was recorded in about 8% of the children. Seventeen percent had another major medical diagnosis or medical syndrome, which highlights the importance of completing a neurological assessment of all children with PDDs.

Physical, social, and attitudinal environment may restrict participation in children with cerebral palsy (CP). Here we discuss existing/possible approaches in order to identify and describe this environment. We used a critical review of evidence from the World Health Organization Literature Review on Environmental Factors; a search of electronic databases; and talked to specialists in order to find unpublished papers and ‘grey’ literature. Both children with disabilities and their parents identified a range of barrier and facilitator factors. These included psychosocial pressures (family, school), financial difficulties, and inadequate public services. Observational studies suggest that building structure, loss of income, and provision of specific equipment have a direct impact on levels of child participation. Some available instruments attempt to capture environmental factors by client survey or objective measurement; most relate to adult contexts, but there are a few child-specific instruments for surveying attitudes of children to peers with disabilities and for observation of the school environment. Defining and measuring potential environmental determinants of participation for children with CP needs further development; and here we propose how this might be done.

The aim of this study was to evaluate the correlative value of magnetic resonance imaging (MRI) in children with periventricular leukomalacia (PVL) for neurodevelopmental outcome. MRI examinations of 89 children (46 males, 43 females) with PVL (median age 4y, range 1 to 14y) were reevaluated. PVL was graded as follows: grade I, unilateral or bilateral areas of periventricular hyperintensity (1–3); grade II, hyperintensity more than 3; grade III, hyperintense lesions more than 3 and ventricular wall irregularity; grade IV, diffuse PVL and ventricular dilatation. Localizations of PVL and brain abnormalities associated with PVL were also noted. Assignment to PVL grades on MRI was as follows: PVL I (n=22), PVL II (n=18), PVL III (n=30), and PVL IV (n=19). Cerebral palsy was slightly less common in children with PVL I and II compared with PVL III to IV. Motor function was normal in 50% of children with PVL grade I, but severely impaired in 73.7% of children with PVL grade IV. Results of visual function were normal in all with PVL I, but pathological in 42.1% of patients with PVL IV. Developmental tests were appropriate for age in 75% of patients with PVL I, but significantly delayed in all patients with PVL IV. Thinning of the corpus callosum and presence of cortical atrophy were also correlated with neurological outcome. Significant risk factors associated with developmental delay were asphyxia at birth (odds ratio [OR] 4.3), PVL localization numbers over 3 (OR 4.4), PVL III to IV (OR 15), thinning of corpus callosum, and cortical atrophy.

The aim of this study was to evaluate the effect of electrical stimulation (ES) on the function of the upper extremities in children with cerebral palsy (CP). The participants were 12 children (seven females and five males) with spastic hemiplegia (mean age 5 years 7 months, SD 3 years 9 months). Indications were weak wrist dorsiflexion and elbow extension. The ES was given at sensory level (20–40 minutes) on the infraspinatus muscle and on the wrist dorsiflexors during 12 regularly scheduled physical and occupational therapy sessions (during 4–5 weeks). The Goal Attainment Scale, the Zancolli classification of hand function, muscle testing according to Daniels and Worthington, and King hypertonicity scale were used for evaluation. Assessments were made twice before (between 4 weeks) and twice after (between 12 weeks) the stimulation period except the King hypertonicity scale, which was used once before and 3 months after the stimulation period. Active elbow extension, wrist dorsiflexion, and forearm supination with the elbow flexed and extended improved when the results of assessments before ES were compared with those made immediately before (p<0.001) and three months after (p<0.01) this treatment. Results of this pilot uncontrolled study suggest that ES at sensory level can be used as an adjunct to physiotherapy and/or occupational therapy in children with spastic hemiplegia. These results will be used as basis for further research.

This study examined the effect of neurodevelopmental treatment (NDT) and differences in its intensity on gross motor function of children with cerebral palsy (CP). Participants were 34 children (12 females, 22 males; mean age 7y 3mo [SD 3y 6mo], age range 3 to 14y) with mild to moderate spasticity and hemiplegia (n=10), diplegia (n=12), and tetraplegia (n=12). Gross Motor Function Classification System levels were: I (n=10), II (n=10), and III (n=14). The paired sample, which was obtained by ratio stratification and matching by sex, age, and distribution of impairment from a total of 114 children with CP, was assigned randomly to two groups: group A underwent NDT twice a week and group B five times a week for 16 weeks. The outcome measure used was the Gross Motor Function Measure, which assessed the performance of the children before and after intervention. The paired-sample t-test revealed that gross motor function of children from both groups improved significantly after intervention (p<0.05). Children in group B performed better and showed significantly greater improvement than those in group A (p<0.05). Results support the effectiveness of NDT and underline the need for intensive application of the treatment.

Outcome in 24 ambulant children with spastic diplegic cerebral palsy, in whom multilevel surgical intervention was recommended following gait analysis, is reviewed. Twelve children had surgical intervention (treatment group; eight males, four females; mean age 9 years 10 months, SD 3 years 4 months) while the other 12 did not (control group; five males, seven females; mean age 10 years 1 month, SD 2 years 11 months). All children had interval three-dimensional gait analyses (mean time between analyses: control group, 14.1 months; treatment group, 17.9 months). At follow-up the control group (mean age 11 years 9 months) showed a significant increase in minimum hip and knee flexion in stance which was not related to age, the interval between analyses, changes in the passive joint range of motion, nor changes in anthropometric measurements. The treatment group (mean age at follow-up 11 years 3 months) showed a significant improvement in minimum knee flexion and in ankle dorsiflexion in stance. Parents of nine children said their child's walking distance had increased following intervention. Of five children using posterior walkers preoperatively, two continued to use them postoperatively; two were using crutches or sticks and the remaining child walked independently. Two children who walked independently preoperatively used sticks postoperatively for community ambulation. The deterioration seen in the kinematics of the control group suggests that previous outcome studies comparing postoperative gait with preoperative gait have underestimated the immediate effects of surgery. It also raises concerns about the long-term effects of surgical intervention.

This study compared the functional efficacy of three commonly prescribed ankle–foot orthosis (AFO) configurations (solid [SAFO], hinged [HAFO], and posterior leaf spring [PLS]). Sixteen independently ambulatory children (10 males, six females; mean age 8 years 4 months, SD 2 years 4 months; range 4 years 4 months to 11 years 6 months) with spastic diplegia participated in this study. Four children were classified at level I of the Gross Motor Function Classification System (GMFCS; Palisano et al. 1997); the remaining 12 were at level II. Children were assessed barefoot (BF) at baseline (baseline assessment of energy consumption was performed with shoes on, no AFO) and in each orthotic configuration after three months of use, using gait analysis, oxygen consumption, and functional outcome measures. AFO use did not markedly alter joint kinematics or kinetics at the pelvis, hip, or knee. All AFO configurations normalized ankle kinematics in stance, increased step/stride length, decreased cadence, and decreased energy cost of walking. Functionally, all AFO configurations improved the execution of walking/running/jumping skills, upper extremity coordination, and fine motor speed/dexterity. However, the quality of gross motor skill performance and independence in mobility were unchanged. These results suggest that most children with spastic diplegia benefit functionally from AFO use. However, some children at GMFCS level II demonstrated a subtle but detrimental effect on function with HAFO use, shown by an increase in peak knee extensor moment in early stance, excessive ankle dorsiflexion, decreased walking velocity, and greater energy cost. Therefore, constraining ankle motion by using a PLS or SAFO should be considered for most, but not all, children with spastic diplegia.

The aim of this study was to examine the character of motor dysfunction in individuals with Angelman syndrome (AS). Thirty-three children and adolescents (median age 6 years, range 18 months to 23 years) were consecutively investigated for learning disability, epilepsy, and motor dysfunction to detect suspected AS. Twenty-three individuals (13 males, 10 females; median age 5 years 6 months, range 21 months to 23 years) fulfilled international consensus criteria for AS. Clinical diagnosis was supported by a positive DNA methylation test in eleven participants. Ten participants (seven males, three females; median age six years, range 18 months to 13 years) did not comply with consensus criteria for AS and were regarded as a comparison group. There was no significant difference between the AS and the comparison group regarding age or developmental level. Median developmental quotient level was 26 months (range 8 to 63 months); median gross motor developmental level in participants with AS was 24 months (range 8 to 60 months); median fine motor developmental level was 15 months (range 6 to 60 months). Muscle strength, spasticity, tremor, and coactivation were assessed: distal lower limb spasticity, ataxic like gait, stiff lower limbs, and the presence of coactivation during locomotion were significantly more frequent in participants with AS than in the comparison group (p<0.05). Asymmetry of muscle strength and spasticity were frequent. Neurological abnormalities were insufficient for a diagnosis of cerebral palsy and impeded function less than immaturity in both AS groups. Risk of increasing impairment needs to be anticipated to prevent negative long-term effects of muscle imbalance and motor asymmetries in individuals with AS.