Between 1989 and 1994, 18 children with cryptogenic infantile spasms – defined by normal development before onset of spasms, symmetrical hypsarrhythmia or multifocal spikes, and typical spasms on presentation, and no abnormal findings on aetiological studies including neuroradiology – were diagnosed and treated. To assess the risk of cognitive impairment later in life, 15 of these 18 children whose spasms completely resolved within the first year of life were studied. Age at onset of spasms varied between 4.4 and 9.8 months (mean 6.5 months). Children were effectively treated with adrenocorticotrophic hormone (10 children), pyridoxine (three), vigabatrin (one), or sodium valproate (one). Spasms lasted between 11 and 138 days (mean 50 days) and stopped between the age of 6.3 and 10.2 months (mean 8.1 months). EEGs normalized between the age of 7.1 and 13.2 months (mean 9.4 months). Early development was assessed on presentation and within a few months after spasms had stopped. A detailed neuropsychological assessment was performed between the age of 4.0 and 5.9 years. Twelve children had normal intelligence; specific cognitive deficits were found in five. Three children had mild learning disability. Abnormal developmental status at age 8 to 15 months after complete resolution of spasms and EEG abnormalities was associated with cognitive deficits at age 4 to 6 years.

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.

In two males, 11 and 12 years of age, referred for attention-deficit–hyperactivity disorder (ADHD), 47,XYY syndrome was diagnosed. A team that included a neuropsychologist, a physiotherapist, and a physician examined them. Stature (patients were above 97.5% height for age), muscle consistency, and tremor indicated chromosome analysis. Psychological tests results did not fully fit the ADHD diagnosis. On the basis of our clinical observation we felt that stimulant medication was indicated. Administration of methylphenidate led to improved motor and cognitive functions as well as social adaptation in both patients. We suggest that this treatment might well be considered in clinically similar patients with XYY sex chromosomes; we further suggest that learning problems in such individuals may be related to ADHD.

This study explored the relationships between the Gross Motor Function Classification System (GMFCS), limb distribution, and type of motor impairment. Data used were collected in the Ontario Motor Growth study, a longitudinal cohort study with a population-based sample of children with cerebral palsy (CP) in Canada (n=657; age 1 to 13 years at study onset). The majority (87.8%) of children with hemiplegia were classified as level I. Children with a bilateral syndrome were represented in all GMFCS levels, with most in levels III, IV, and V. Classifications by GMFCS and ‘limb distribution’ or by GMFCS and ‘type of motor impairment’ were statistically significantly associated (Pearson's χ2p<0.001), though the correlation for limb distribution (two categories) by GMFCS was low (tau-b=0.43). An analysis of function (GMFCS) by impairment (limb distribution) indicates that the latter clinical characteristic does not add prognostic value over GMFCS. Although classification of CP by impairment level is useful for clinical and epidemiological purposes, the value of these subgroups as an indicator of mobility is limited in comparison with the classification of severity with the GMFCS.

High levels of alcohol consumption during pregnancy affect the development of the baby's central nervous system. Pregnant women were interviewed about their alcohol consumption during pregnancy, when they first visited the maternity hospital in Roubaix, France. Of the 698 women interviewed, 156 of their children were investigated at the age of 4 ½ years with a standardised examination to assess the effects of prenatal alcohol exposure on neurological status. Two scores were calculated: a posture score, which measured items while the child was standing; and a minor neurological signs score. The posture score was not related to prenatal alcohol exposure. Consumption of 21 drinks/week (3 drinks/day) or more during pregnancy was significantly associated with a higher number of minor neurological signs, after controlling for relevant covariables. Although prenatal alcohol exposure was related to a lower General Cognitive Index (GCI), minor neurological signs were associated with prenatal alcohol exposure after controlling for GCI.

Eighteen children with hemiplegia, mean age 8 years 5 months, underwent gait analysis and musculoskeletal modelling using specially designed software. The maximum lengths of the hamstrings were determined for each child walking in and out of an ankle–foot orthosis (AFO). The muscles were deemed to be short if shorter than the normal average –1SD. In bare feet 8 participants had short medial hamstrings with a higher proportion of these in the less involved individuals. All participants showed an increase in maximum hamstring length when wearing an AFO. In all but one child this was sufficient to restore hamstring length to within normal limits. These finding suggest that hamstring pathology in hemiplegic gait is usually secondary to more distal lower limb pathology.

To study the development of physical health and some neuromotor functions in anorexia nervosa (AN) 51 individuals (48 females, three males) with a mean AN onset of 14 years, recruited after community screening, were followed prospectively together with 51 age-, sex-, and school-matched individuals without AN (controls). About 10 years after AN onset, all individuals were examined in respect of physical health and neurodevelopment. There were no deaths. Weight and height had normalised, except in three participants with persistent AN. Significantly more participants with AN had a physical complaint/disorder, including hirsutism. This might be a long-term complication in weight restored AN. Dysdiadochokinesis occurred almost exclusively among individuals with former AN in accordance with our previous studies.

This study examined the effect of massed practice in balance recovery of stability in six children (four males, two females; mean age 9 years 2 months, SD 2 years, range 7 years 5 months to 12 years 11 months) with cerebral palsy (CP). Four children were diagnosed with spastic diplegia (Gross Motor Function Classification System [GMFCS] level II) and two with spastic hemiplegia (GMFCS level I). A single-subject, multiple-baseline experimental design involving three pairs of children matched for diagnosis was used. A moveable forceplate system was used to test and train reactive balance control. Area per second (i.e. area covered by the center of pressure over a one second period) and time to stabilization from center of pressure measures were calculated following perturbations. The intervention phase consisted of massed practice on the moving platform (100 perturbations/day for 5 days). Analysis included hierarchical linear modeling and a repeated measures ANOVA. All children demonstrated a significant improvement in their ability to recover stability as demonstrated by reduced center of pressure area and time to stabilization following training. These improvements were still present 30 days following completion of training. Results suggest that postural control mechanisms in school-age children (7 to 13 years) with CP are modifiable.

Bladder involvement is common in transverse myelitis but its characteristics and natural history, particularly in relation to neurological outcome, have not been described in a paediatric population previously. Ten children, with ages ranging from 8 months to 16 years, who had a diagnosis of acute transverse myelitis were studied with video urodynamics and followed up in a tertiary paediatric neurourology clinic. Nine of ten children had obstructive urinary tract symptoms at presentation and all went on to develop ‘irritative’ urinary tract symptoms (frequency and urgency) about 1 month after initial presentation. Video urodynamics showed a combination of irritative (detrusor hyperreflexia) and obstructive (detrusor–sphincter dyssynergia) abnormalities in most patients and enabled management to be specifically directed towards these. The patients progress was followed up for a median duration of 36 months. All had residual bladder dysfunction, only four were asymptomatic on treatment. The degree of recovery of bladder function was not related to the degree of motor recovery.

We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period. At the age of 12 years 1 month, 2 months after withdrawal of vitamin B6, visual seizures began to occur frequently. Myoclonic seizures and occasional generalized convulsive seizures were also observed. At the same time, photoparoxysmal response and spontaneous diffuse spike–wave bursts were seen on her EEG. Myoclonic seizures were provoked by intermittent photic stimulation during the EEG. It is distinctive that visual seizures were one of the main seizure types in this patient, that her clinical course was relatively benign, and that she has normal intellectual outcome.

Chronic daily headache is a condition that affects 2 to 4% of adolescent females and 0.8 to 2% of adolescent males. It is manifested by severe intermittent headaches, as well as a chronic baseline headache. Chronic daily headache is diagnosed when headaches occur for greater than or equal to 15 headache days per month, over a period of 3 consecutive months, and with no underlying pathology. The headaches last for more than 4 hours a day. Patients with chronic daily headache will frequently have sleep disturbance, pain at other sites, dizziness, worsening anxiety and mood, and school absence. Successful approaches to treatment include education, use of preventative medication, avoidance of analgesics, and helping the children work their way back into a functional daily routine.

Saccadic eye movements are essential for redirecting the fovea at different visual targets. In adults and children saccades are remarkably stereotyped. Peak velocity and duration of saccades are a simple function of saccade amplitude called the ‘main sequence’. Saccades that are substantially slower than normal often reflect disease of the brain stem saccade generator but may also be associated with diseases of higher level structures including the cerebral hemispheres and superior colliculus. However, little is known about the speed of saccades in infancy. A single previous study reported that infant saccades may be similar to or slower than those of adults, but few saccades were recorded. The present study re-examined this issue with the technique of measuring optokinetic (OKN) quick phases, which are readily elicited from healthy and sick infants, with a view to using saccade speed as a quantitative neurological measure. We measured the duration and peak velocity of saccades (main sequence) using direct-current electro-oculography from OKN quick phases in 18 infants (nine males, nine females) aged 2 to 18 months (mean age 8mo [SD 4]) and seven adult comparison participants (four males, three females; age range 21–32y, mean age 27y [SD 3]). All infant saccades showed typical relationships between duration, peak velocity, and amplitude. Overall, there was no statistically significant difference between adult and infant main sequences for duration or peak velocity. However, the differences in the main sequence for duration almost reached significance (p=0.051) for infant saccades being faster than adults. Individual differences were also present, and some infants produced saccades faster than adults, but not slower. There was no significant age trend. We conclude that measuring saccade speed is practicable in the young infant. From the age of at least 2 months, infants generate saccades with speeds similar to or slightly higher than those of adults.

Sleep problems are common in childhood. They are reported in about a quarter of young children, usually in the form of settling difficulties or night waking. The types and frequency of sleep disturbance tend to vary with age and, although some remit spontaneously, a substantial proportion of them persist. Particularly high rates of sleep disturbance occur in children who have learning disabilities, are physically ill, or psychologically disturbed. The immediate effects of sleep problems are important but so, also, are the longer-term effects which may influence the child's physical, psychological, and social development. Persistent sleep disturbance is associated with behavioural disturbance in children and may affect performance in school. Raised levels of maternal stress and impairment of parenting skills have also been reported as a consequence.

the feasibility of percutaneous intramuscular functional electrical stimulation (p-fes) in children with cerebral palsy (cp) for immediate improvement of ankle kinematics during gait has not previously been reported. eight children with cp (six with diplegia, two with hemiplegia; mean age 9 years 1 month [sd 1y 4mo; range 7y 11mo to 11y 10mo]) had percutaneous intramuscular electrodes implanted into the gastrocnemius (ga) and tibialis anterior (ta) muscles of their involved limbs. stimulation was provided during appropriate phases of the gait cycle in three conditions (ga only, ta only, and ga/ta). immediately after a week of practice for each stimulation condition, a gait analysis was performed with and without stimulation. a significant improvement in peak dorsiflexion in swing for the more affected extremity and dorsiflexion at initial contact for the less affected extremity were found in the ga/ta condition. clinically meaningful trends were evident for improvements in dorsiflexion kinematics for the more and less affected extremities in the ta only and ga/ta conditions. the results suggest that p-fes might immediately improve ankle kinematics in children with cp.

Landau–Kleffner syndrome (LKS) is an acquired childhood aphasia associated with paroxysmal bitemporal electroencephalogram (EEG) abnormalities and, sometimes, clinical seizures. We report the case of a female aged 5 years 6 months who presented clinically with apparent hearing loss, deterioration in speech, and seizure activity over 12 days. The female had previous detailed speech/language assessments at 3 to 4 years of age due to articulation delay. LKS was diagnosed on EEG with bitemporal spike and wave activity during sleep. The patient was treated with high dose prednisolone 3mg/kg/day, intensive speech/language therapy, and followed a modified educational program. We recorded a marked regression in receptive and expressive language skills, as well as her speech, language, and cognitive profiles before and during treatment with prednisolone, during an 18-month follow-up period. The patient demonstrated an excellent clinical response highlighting the importance of a multidisciplinary approach to management of LKS.

The International Workshop on the Definition and Classification of Cerebral Palsy have proposed a fresh definition and classification of cerebral palsy (CP; p 571). In their accompanying paper they explain their reasoning behind this. Why is there the need for revision of the widely accepted and comfortably familiar definitions of Bax and Mutch? These definitions are beautifully succinct and clear but perhaps not inclusive enough, making no mention of pathogenesis or of the functional and ‘non-motor’ features of CP which are most significant when it comes to everyday life. There has been debate in the past as to whether a more aetiological definition should be adopted but we are not yet ready for this. CP remains unexplained in around 15% of children, even after good neuroimaging and metabolic investigation and we recognize that a wide range of CNS disorders can result in a similar clinical picture. Thus, a predominantly phenotypic definition and classification remains the most appropriate. The workshop clearly deliberated long and hard over every word of the revised definition producing a much more detailed description of CP that now encompasses the effect on function (activity limitation) and the comorbid features. As a result, the definition is longer and it does not ‘trip off the tongue’ in the way the old ones did.

osteopenia is common in children, adolescents, and young adults with severe cerebral palsy (cp; spastic quadriplegia) living in residential care, and frequently results in atraumatic fractures. on clinical grounds 67 patients (34 males, 33 females) with severe cp (gross motor function classification system [gmfcs] levels iv or v) aged 5 to 25 years (median 20y) were divided into three groups with increasing likelihood of severe impairment of bone quality: (1) patients without fractures and without anticonvulsant medication (n=13); (2) patients without fractures and with anticonvulsant medication (n=45); (3) patients with fractures and with anticonvulsant medication (n=9). evaluation included measurements of quantitative ultrasound (qus) of the calcaneus, multiple serum analyses, and determination of urinary bone-resorption markers. values of the quantitative ultrasound index (qui) were significantly different (p=0.001): group 1 (median 56.9; interquartile range 43.8–75.3); group 2 (49.9; 40.0–60.0); group 3 (35.6; 30.5–38.5). when comparing values of laboratory serum and urine in the three groups, we found significant differences in values of serum bone alkaline phosphatase (p=0.001), serum parathyroid hormone (pth; p=0.002), serum albumin (p=0.020), and urinary deoxypyridinoline/creatinine ratio (p=0.004). in multiple regression analysis, no laboratory variable was found to be an independent predictor of qui. qus of the calcaneus may be a useful method to assess bone quality and fracture risk in children and young adults with severe cp living in residential care, independent of information from laboratory data.

This study assessed the impact of epilepsy on motor function in children. We aimed to analyze the effect in uncomplicated epilepsies (cryptogenic partial and idiopathic generalized epilepsy). A group of 87 children with epilepsy (47 males, 40 females; mean age 8y, standard deviation [SD] 1y 9mo, range 4y 11mo to 12y 11mo), but without learning disability or other neurological comorbid disorders, was compared with a control group of 107 children (76 males, 31 females; mean age 8y 4mo, SD 2y 2mo, range 4y 7mo to 12y 2mo). The differences in main motor skills and psychomotor speed were analyzed using the Movement ABC and computerized measures for simple reaction times and finger tapping. No significant difference in motor function was found. The overall psychomotor development of children with epilepsy is comparable to controls. However, a significant slowing of psychomotor speed in the group with epilepsy was reported. No relation with antiepileptic drug treatment was demonstrated and no difference in psychomotor speed between different types of epilepsy was found. The existence of a condition leading to excessive neuronal discharge leads to a general cortical inhibition. The slowing of psychomotor speed in children with uncomplicated epilepsy may be the behavioural presentation of this inhibition.

We report a female infant noticed by her mother to have reduced movements of her right wrist and left foot at birth. This female presented to the Accident and Emergency Department of Queen Elizabeth Hospital, London, UK, aged 6 weeks, with significant weakness of her right wrist and left foot. Her clinical history also revealed sudden diminution in fetal movements 2 weeks before delivery, consistent with neuropathology in utero and neuromuscular deficit in the immediate postnatal period. An initial examination revealed generalized hypotonia, areflexia, and paucity of movements. Electrophysiological studies suggested demyelinating polyneuropathy; sural nerve biopsy confirmed a diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). With the results and the pre- and postnatal clinical history, we believe this to be the first reported individual with congenital CIDP confirmed in the neonatal period. We describe the treatment and outcome up to the age of six years.