Constraint-induced movement therapy (CIMT) is becoming increasingly recognized as a potentially useful means of treating children with hemiplegia but meanwhile attracts vigorous criticism and controversy. It has been suggested that constraint therapy is physically and developmentally intrusive in a number of ways: preventing use of the normal hand leaves a child with a poorly functioning hand which could cause distress and frustration; restraining the uninvolved limb at a critically sensitive stage of development may theoretically compromise function; there is a possible danger from lack of protection in case of falls; and the activities a child may be asked to perform may be inappropriate for his capability, resulting in resentment and lack of motivation.

Jose Prats Viñas and coworkers' (p 419) report in this issue is of great interest, first because it raises the problem of the definition and limits of Aicardi syndrome but also, accepting as I do that it belongs to the syndrome, it suggests a much wider spectrum of expression.

In this issue Majnemer and Barr (p 370) bring to our attention two groups of 4 and 6-month-old infants, who had spent much of their time supine. As the authors describe some aspects of their immediate early development, I find myself being repeatedly reminded of other associated and longer-term aspects of position-related development. In their discussion the authors rightly remind us that ‘infant motor development involves a dynamic interplay between intrinsic maturation of the musculoskeletal and nervous systems and extrinsic experiences’. But what about genetic bias?

The objective of the study was to evaluate the effectiveness of modified constraint-induced movement therapy in young children with hemiplegia. It was a single-case experimental design using children as their own controls. Assessment was at entry to the study and subsequently at 4-weekly intervals. A 4-week baseline period with no hand treatment, controlling for maturation, was followed by a 4-week treatment period and a second 4-week period with no hand treatment to measure carry-over. Treatment consisted of twice-weekly 1-hour sessions of structured activities with a therapist and a home programme for non-treatment days. Only verbal instruction and gentle restraint of the unaffected arm were used to encourage use of the affected arm. Nine children (six males, three females; median age 31mo, age range 21 to 61mo) presenting with congenital spastic hemiplegia (five right side, four left side) were involved in the study. Changes in hand function were evaluated with the Quality of Upper Extremity Skills Test. Improvement was seen throughout the study with statistical significance, using the Wilcoxon signed rank test, of 0.01 immediately after treatment. Results of this pilot study suggest that this modification of constraint-induced movement therapy may be an effective way of treating young children with hemiplegia. Future work is planned to consolidate and develop these results.

This study aimed to determine whether supine sleep-positioned infants have delayed motor skills at age 4 and 6 months, and if delays are associated with decreased exposure to prone position. One 4 and one 6-month-old sample of healthy infants born at term were recruited. Motor assessments included the Peabody Developmental Motor Scale (PDMS) and Alberta Infant Motor Scale (AIMS). Parents completed an infant behavior diary for 3 consecutive days. Seventy-one 4-month-old infants were assessed (38 males; mean age 4.4mo, standard deviation [SD] 0.2). Mean motor scores were close to normative standards (AIMS 47.7, SD19.6; PDMS gross motor quotient [GMQ] 96.3, SD 6.5; PDMS fine motor quotient [FMQ] 99.2, SD4.8). No infant scored below cut-off values used to identify motor delay. Milestones less likely to be achieved included extended arm support in prone, hands to feet in supine, and sitting with arm support. Exposure to ‘tummy time’ while awake was correlated with AIMS scores (r=0.38, p<0.01). Fifty 6-month-old infants were assessed (21 males; mean age 6.4mo, SD0.4). Mean scores were shifted down for all scales, and as much as 1SD for PDMS (AIMS 44.5, SD 21.6; PDMS GMQ 85.7, SD7.6; PDMS FMQ 88.9, SD9.0). Only 22% of 6-month-olds could sit without arm support versus 50% expected in a normative sample. Remarkably, 22% of our sample exhibited gross motor delays (quotient<78). Tummy time (awake) was significantly associated with the AIMS (r=0.64) and PDMS GMQ (r=0.55) and FMQ (r=0.33) quotients, even after adjusting for confounders. Typically developing infants who were sleep-positioned in supine had delayed motor development by age 6 months, and this was significantly associated with limited exposure to awake prone positioning. This has important implications for interpreting motor assessments of infants at risk and for preventing inappropriate referrals.

We have developed a gait nomogram based on dynamic similarity to characterize and compare neuromuscular function. We used temporal–distance data based on 669 normal participants (age range 5 to 98 years), and 78 children and young adults with spastic diplegia (43 males, 35 females; mean age 10y 8mo, standard deviation 3y 11mo, range 5 to 20y), all of whom were independent ambulators. A new statistical algorithm known as fuzzy clustering was implemented and five cluster centres were identified, each representing distinct walking strategies adopted by children with cerebral palsy. Using just three easily obtained parameters – leg length in metres, stride length in metres, and cadence in steps per minute – our program calculates a child's dimensionless step length and step frequency, generates the individual's membership values for each of the five clusters, and plots the gait nomogram. The clinical utility of our approach has been demonstrated for two test participants with spastic diplegia, using pre- and postoperative data (one neurosurgical and one orthopaedic), where changes in membership of the five clusters provide objective measures of improvement in their neuromuscular function.

Morphological properties of skeletal muscle were compared between wrist flexors and extensors within the same children (n=8, six females, two males; age range 4 to 9y, median age 7y)with wrist muscle imbalance secondary to spastic cerebral palsy (CP). Five patients had hemiplegic CP, two diplegic CP, and one patient had tetraplegic CP. Muscle biopsies were taken during either tendon transfer or tendon lengthening procedures. Analyses included distribution of muscle fibre types, fibre sizes, and expression of developmental myosins. Extensor fibre area was significantly greater than flexor fibre area for type 2A fibres and type 2B fibres but not for type 1 fibres. Coefficient of variation (CV) of fibre size for all three fibre types was greater for flexors compared with extensors. The greatest CV was observed for the type 2A fibres in flexors (39.5 [3.6%]). A wide variation was observed for expression of developmental myosin with the magnitude of the expression being greater, but not statistically significant, in flexors compared with extensors (5.4/mm2 vs 0.53/mm2). These data demonstrate that significant secondary myopathy of wrist flexor muscles results from CP.

This study aimed to investigate whether two distinct motor control processes, i.e. motor planning and parameter setting, were impaired in children with attention-deficit–hyperactivity disorder (ADHD). An experiment was designed in which children copied figures of increasing complexity under increasing accuracy levels on a digitizer. Sixteen children with ADHD (11 males, 5 females; mean age 8y 4mo, SD1y 1mo) and 16 comparison children, without impairment, matched for age and sex participated. ADHD was diagnosed by a psychiatrist following the criteria of the DSM-V. Only children with IQ scores greater than 80 were included. Across all graphic tasks, children with ADHD made slower, inaccurate strokes with relatively high axial pen force compared with the comparison group. No evidence was found for a deficit in motor planning, but parameter setting appeared to be deficient as the ADHD group made less accurate strokes when accuracy demands increased.

The purpose of this pilot study was to evaluate the effect of treatment with botulinum toxin A (BTX-A) injections on function in children with cerebral palsy (CP) using pedobarometric data collected in a standing position. Ten children with CP (seven males, three females) participated, five with diplegia and five with hemiplegia. All children exhibited signs of unilateral dynamic equinus foot disorder and were community ambulators. Age range at the time of treatment was 6 to 13 years (mean age 9y, SD 2.5). A comprehensive clinical examination and a pedobarometric evaluation were performed before and after BTX-A injection. All children received at least one injection in each spastic muscle. BTX-A was given to eight children unilaterally and to two children bilaterally. A maximum dose of 4 to 8 units of BTX-A per kilogram body weight was administered. In comparison with pretreatment values, the pedobarometric evaluation revealed a significant increase in the whole plantar surface area on the affected side (p<0.05), an increase in the peak pressure value at the hindfoot on the affected side (p<0.05), and a significant shift in the body centre of mass to the affected limb (p<0.05) 1 month after treatment with BTX-A. A significant decrease in the peak pressure value at the hindfoot on the unaffected side was also observed. Similarly, a decrease in the modified Ashworth scale and an increase in the range of motion were observed. Thus, BTX-A produces a significant plantar surface modification and a significant shift of the body centre of mass which represents an indirect measure of postural attitude. Pedobarometric evaluation can also be useful in quantifying clinical changes after treatment with BTX-A.

Children with infantile nephropathic cystinosis have evidence of visuospatial and arithmetic deficits on a background of normal intellectual and verbal skills. This study aimed to define further their behavioral phenotype. The Achenbach Child Behavior Checklist was completed by parents of: 64 children and adolescents with cystinosis (33 females, 31 males; mean age 8y 8mo, range 4 to 16y, SD 2y 11mo); 101 healthy controls (47 females, 54 males; mean age 8y 4mo, range 4 to 16y, SD2y 11mo); 21 children and adolescents with cystic fibrosis (CF), termed chronic-disease controls (9 females, 12 males; mean age 11y 3mo, age range 4 to 17y, SD3y 5mo). Compared with healthy controls, individuals with cystinosis had evidence of a significantly higher incidence of behavioral problems, including social problems, somatic complaints, and attention problems. Compared with the chronic-disease control group, the cystinosis group differed only on the Social Problems scale, with 22% of participants with cystinosis scoring in the ‘at risk’ range whereas no participant with CF received an elevated score on this scale. We conclude that children and adolescents with cystinosis have evidence of a significant incidence of social difficulties compared with individuals with another chronic illness and healthy participants. The combination of visuospatial problems, difficulty with arithmetic, attention problems, and social difficulties seen in the cystinosis group constitutes a behavioral phenotype of this genetic disorder. This cluster of cognitive and behavioral symptoms is also seen in the nonverbal learning disabilities syndrome, and suggests a possible early difference in brain development in children with cystinosis compared with children who do not share this genetic disorder.

This study investigated the immediate effects of stimulant medication (methylphenidate) on cognitive attention processes in children with attention-deficit–hyperactivity disorder (ADHD). Thirteen males and two females (mean age 9y 5mo, SD 18.3mo) with a diagnosis of ADHD and who were to be prescribed methylphenidate were assessed twice on one day with the Test of Everyday Attention for Children, a neuropsychological battery designed to tap different aspects of cognitive attention. Between assessments, the children were administered methylphenidate (10mg). Each child had at least average intelligence (IQ 80 or over, as measured by the Wechsler Intelligence Scale for Children – III UK) and was on no other medication. A group of 16 children, who were matched for age, sex, and intelligence, also performed the cognitive tests twice on the same day to control for practice effects of testing. At the first assessment, children with ADHD demonstrated significant impairments in several aspects of cognitive attention in comparison with the control group, particularly sustained attention. After administration of methylphenidate for the children with ADHD, they showed significant improvements in their performance on measures of cognitive attention compared to controls. The immediate effects of methylphenidate and the significance of measuring cognitive aspects of attention as well as behavioural measures are discussed.

We present a 9-month-old male with acute rotavirus gastroenteritis who developed an acute encephalopathy with focal seizures and developmental regression. Magnetic resonance imaging showed bilateral striatal necrosis and raised glutarylcarnitine levels on tandem mass spectrometry of a (crisis) blood spot, and chromatography of organic acids revealed increased urinary excretion of dicarboxylic acid. Skin biopsy demonstrated a partial decrease in glutaryl-CoA dehydrogenase activity. The case was not typical for either rotavirus encephalitis/rotavirus-associated encephalopathy or for glutaric aciduria type I. The patient has developmental delay and continues to receive physiotherapy, speech therapy, and local developmental follow-up.

Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.

We present a systematic review on the effect of early intervention, starting between birth and a corrected age of 18 months, on motor development in infants at high risk for, or with, developmental motor disorders. Thirty-four studies fulfilled the selection criteria. Seventeen studies were performed within the neonatal intensive care unit (NICU) environment. Eight studies had a high methodological quality. They evaluated various forms of intervention. Results indicated that the Newborn Individualized Developmental Care and Assessment Program (NIDCAP) intervention might have a temporary positive effect on motor development. Twelve of the 17 post-NICU studies had a high methodological quality. They addressed the effect of neurodevelopmental treatment (NDT) and specific or general developmental programmes. The results showed that intervention in accordance with the principles of NDT does not have a beneficial effect on motor development. They also indicated that specific or general developmental programmes can have a positive effect on motor outcome. We concluded that the type of intervention that might be beneficial for infants at preterm age differs from the type that is effective in infants who have reached at least term age. Preterm infants seem to benefit most from intervention that aims at mimicking the intrauterine environment, such as NIDCAP intervention. After term age, intervention by means of specific or general developmental programmes has a positive effect on motor development.