Seventy-five families of children with intractable epilepsy but without a severe learning disability (mean age 7 years 1 month, SD 2 years 6 months; range 2 to 12 years) who attended a regional paediatric neurology service, were surveyed. A postal questionnaire was used which included standardized measures of child and family adjustment; forty-eight families responded (64%; 31 males, 17 females). There was no significant difference between responders and non-responders in terms of age, sex, number of other chronic illnesses and disabilities, age at epilepsy diagnosis, seizure type, nor number of antiepileptic drugs currently prescribed (p>0.05). The importance of including multidimensional measures of outcome was highlighted by the finding that epilepsy, pharmacological, and psychosocial factors were differentially associated with specific adjustment difficulties. Two factors appeared to be most pervasively implicated across a range of adjustment problems: frequency of rectal diazepam administration and family patterns of relating to each other (p<0.05). It appeared that duration of seizures (as indicated by frequency of rectal diazepam administration), rather than the frequency of seizures per se, was more pernicious in terms of poor adjustment. Intrafamilial relations (degree of conflict/cohesion and so on) were not only associated with adjustment difficulties in the child, but also with the frequency of seizures themselves. Implications for psychological interventions in intractable epilepsy in childhood are highlighted.

The purpose of this study was to describe functional ability, muscle strength, forced vital capacity, and clinical events in participants with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA) in the non-ambulatory stages of the diseases. Nineteen non-ambulatory participants with DMD (all males; 13 to 24 years) and 13 with SMA (six males, seven females; 11 to 57 years) were assessed once a year over 5 years. The assessments comprised functional ability measured with the EK scale and upper extremity grade, muscle strength measured with the manual muscle test, and forced vital capacity defined as a percentage of normal values (FVC%). In the DMD group all variables measured deteriorated and there was a direct correlation between them. In the SMA group only muscle strength and FVC% deteriorated and there was no close relation between the variables measured. In the DMD group, 16 participants had cardiorespiratory clinical events leading to death in five cases. In the SMA group only four participants had respiratory clinical events, none leading to death. Although the participants with SMA had been extremely weak and non-ambulatory since early childhood they were older and less exposed to life-threatening events than the participants with DMD.

To investigate the relationship between the presence of language disorder, type of epilepsy, and epileptic seizures in childhood, language levels, types of language impairment, and aetiologies were examined in 109 children, aged between 5 and 17 years, attending a national children's epilepsy assessment unit over a 4-year period. There were 70 males and 39 females. Median age was 11 years 4 months (range 5 to 18 years 9 months). In addition to neurological assessment, simultaneous video and EEG monitoring and prolonged ambulatory EEG, each child underwent a comprehensive series of multidisciplinary tests, including intelligence, language, and communication assessments. Classification of seizures and epilepsy syndromes was agreed in conference by a physician specializing in childhood epilepsies, a paediatric neurologist, and a neuropsychiatrist. Other test procedures were administered by a speech and language pathologist with assistance from a neuropsychologist when relevant. Level of language disability in these children was associated with a range of aetiological factors. Evidence was found of a significant number of associations between focal epilepsies, certain seizure types, and language disorder. Of the 46 (42.2%) children with language disorders in the research sample, 30 had localization-related epilepsies and a further three had epilepsies which were undetermined as to whether focal or generalized. Children with focal epilepsies were 30% more likely to have language disorder than other language disability subtypes. The research demonstrated a clear though often subtle association between focal (localization-related) epilepsy and language disorder, indicating an increased risk in this patient group. Children with simple or complex partial seizures were more likely to have language disorder than other language disability subtypes; they also tended to have the lowest number of seizure types per case. This is of importance to clinicians managing children with epilepsy and has implications for their educational and social welfare.

Two male patients (a child and an adult) with congenital mirror movement were studied using functional MRI (fMRI) and transcranial magnetic stimulation (TMS). Bilateral primary sensorimotor cortices were activated during unilateral hand gripping on fMRI when the child patient was 8 years old and the adult was 37 years old. Bilateral motor evoked potentials were induced from the hand and forearm muscles after TMS of each hemisphere. Bilateral motor responses were also induced from the arm muscles in the adult patient. Bilateral motor responses had short and similar latencies. Contralateral motor responses to TMS were smaller than ipsilateral ones in the hand muscles, while contralateral responses were larger than ipsilateral ones in the arm muscles. Contralateral hand motor responses reduced in amplitude or disappeared with increasing age while in the child patient, mirror movements decreased gradually. Our results suggest that bilateral activation of the primary sensorimotor cortices during intended unilateral hand movement and bilateral motor responses to TMS account, at least in part, for the pathophysiology of congenital mirror movement. Reduction of contralateral hand motor responses may be related to the decrease in mirror movements during development.

The objective of this study was to examine the descriptive epidemiology of vision impairment among 6- to 10-year-old children in metropolitan Atlanta, Georgia, USA. Children with vision impairment (n=310; 42% black, 56% white; 57% male, 43% female), defined as a best corrected visual acuity in the better eye of 20/70 or worse, were identified through the Metropolitan Atlanta Developmental Disabilities Surveillance Program. The overall prevalence was 10.7 per 10000 children. Fifty-nine percent had low vision; nearly two-thirds had coexisting disabilities. Educational program varied by vision impairment severity and presence of coexisting disabilities. The common presence of coexisting disabilities emphasizes the importance of multidisciplinary services. The inclusion of case ascertainment sources other than vision impairment classes is critical to ensure an accurate prevalence rate and unbiased description of children with vision impairment.

Following agreement on definitions and classification, a central database was set up to include information on over 6000 children with cerebral palsy (CP) from 13 geographically defined populations in Europe. The overall rate for the period 1980 to 1990 was 2.08/1000 live births (95% CI 2.02 to 2.14). One in five children with CP (20.2%) was found to have a severe intellectual deficit and was unable to walk. Among babies born weighing less than 1500g, the rate of CP was more than 70 times higher compared with those weighing 2500g or more at birth. The rate of CP rose during the 1970s, but remained constant during the late 1980s. Future analyses will include data from children born in the 1990s. This collaborative work provides a powerful means of monitoring trends in birthweight-specific rates of CP and an infrastructure for research and service planning.

A high incidence of long-bone fractures has been observed in children and young adults with quadriplegic cerebral palsy in residential care. This study aimed to determine factors that contribute to these fractures and to institute preventive treatment. Twenty individuals (12 males, eight females) of a cohort of 88 residents with spastic quadriplegia in residential care in Gauteng, South Africa who had sustained fractures were compared with a random sample of age-matched control participants (10 males, 10 females) from the same facility. Participants ranged in age from 6 to 29 years (median 17.5 years). The majority of fractures were in the upper extremities. There was radiological and biochemical evidence of rickets and osteomalacia in both groups. However, the severity of the disease was more pronounced in the group with fractures. There was a significant relation (p=0.002) between the number of fractures and the use of anticonvulsant therapy (ACT). Three months of vitamin D administration (calciferol 5000iu/day) resulted in a marked clinical improvement. There were no fractures during this period in either group. In addition, the mean serum calcium (Ca) and phosphate (Pi)levels increased (Ca from 2.17 to 2.35mmol/L and Pi from 1.13 to 1.66mmol/L) and mean total alkaline phosphatase level decreased (from 1123 to 423U/L). We concluded that vitamin D deficiency was the major factor contributing to the occurrence of fractures in this population. Unless sunlight exposure can be guaranteed, vitamin D supplementation should be considered for children and adults in residential care, especially if they are on ACT, even in areas with year-round sunshine.

An unusual case of cervical spinal cord tethering with diplomyelia is described. A 12-month old female presented with self-mutilation of the fingers due to sensory loss in the hands, absent reflexes, poor muscle tone, and reduced distal upper-limb movements. There was a deep skin dimple overlying the T1 spinous process. Imaging showed angulation of the lower cervical cord and an operation revealed a low cervical meningocele and a split cord malformation with tethering of one half of the cord; the cord was untethered. In this report the literature is reviewed.

The primary aim of this investigation was to assess the correlation between the POSNA Musculoskeletal Functional Health Questionnaire (POSNA) and gait analysis in children with cerebral palsy (CP). POSNA and computerized gait analysis were used to evaluate individuals with CP. Correlations were investigated between POSNA scales, gait parameters, and the Gillette Functional Assessment Questionnaire (FAQ) in 63 children (31 males, 32 females; mean age 9.17 years [SD 3.06], age range 3.75 to 16.44 years) with spastic CP. Twelve participants had hemiplegia, 29 diplegia, 12 quadriplegia, and 10 triplegia. The result of backwards stepwise multiple regression analysis indicated that the Log normalcy index (NI) was a significant predictor of the POSNA Global Function and Comfort scale. Energy expenditure (EE) did not add significantly to the prediction. The POSNA scales differentiated between the different topographical types of CP. The POSNA scale is a valid and useful clinical measure. Used in conjunction with the NI, EE, and FAQ, the POSNA scale provides a more complete appraisal of change in functioning.

Minor neurological dysfunctions (MND) have frequently been reported as an outcome of preterm birth. Behavioural and learning difficulties are a known feature, but coordination problems are especially described in preterm infants at later ages. All preterm infants in our study were born with a gestational age of <32 weeks and a birthweight of <1500g. The aim of the study was to determine if in a normal clinical situation, children at risk for developing coordination problems could be detected by focusing particularly on their spontaneous, although elicited, motor performance. Forty-two children of 2 years 6 months of age were studied of whom 25 were ‘low-risk’ preterm and 17 were born at term. All children had been followed up since birth. In a structured, free-field situation the quality of body rotation, spontaneous reaching-out, and manipulation during parts of the Bayley Developmental Test were observed and videotaped. Body rotations were scored on a 2-point scale, and arm and hand functions on a 3-point scale. Most preterm infants showed non-optimal body rotations and borderline or non-optimal arm and hand functions in contrast to most term children. A clear connection was found between less optimal body rotations and poor arm and hand functions. Retrospectively, poor arm and hand functions at 2 years 6 months seemed to be related to those at 39 weeks. At the age of 39 weeks a clear relation had been found between poor postural control (many preterm infants could not sit independently) and earlier hyperextension of the trunk at 18 weeks and quality of arm–hand functions. In the present study at 2 years 6 months a correlation with the former hyperextension could no longer be found, but there was a significant relation between poor trunk rotation and arm and hand function and the earlier arm and hand functions at 39 weeks.

Benign paroxysmal torticollis of infancy (BPTI) is a disorder characterized by recurrent episodes of head tilt secondary to cervical dystonia. Attacks are often accompanied by vomiting, pallor, and ataxia, settling spontaneously within hours or days. Episodes begin within the first 12 months of life and resolve by 5 years. We report four patients with BPTI. Symptoms started from 3 months of age, with head tilting lasting between 10 minutes and 2 months; the shorter episodes were followed by vomiting, apathy, and unsteadiness. Head tilt became less prominent after infancy, replaced by vertigo and eventually by migraine headaches. Two patients came from a kindred with familial hemiplegic migraine linked to CACNA1A mutation. BPTI may be regarded as a migraine aura equivalent. The syndrome poses interesting questions regarding varying phenotypic expression of calcium channelopathies at different stages of development.

This study examined comorbid psychiatric symptoms in a large, community-based sample of children and adolescents. The study sample comprised a total of 3006 school children: 413 preschool (3 to 5 years; 237 males, 176 females; mean age 4 years 2 months, SD 8 months), 1520 elementary school (5 to 12 years; 787 males, 733 females; mean age 8 years 2 months, SD 1 year 11 months), and 1073 secondary school children (12 to 18 years; 573 males, 500 females; mean age 14 years 4 months, SD 1 year 10 months), all of whom were attending regular education programs. Children were evaluated with a teacher-completed DSM-IV-referenced rating scale. The sample was divided into four groups: attention-deficit–hyperactivity disorder with tics (ADHD+tics), ADHD without tics (ADHD), tics without ADHD (T), and a comparison group i.e. neither ADHD nor tics (Non). The percentage of children with tic behaviors varied with age: preschool children (22.3%), elementary school children (7.8%), and adolescents (3.4%). Tic behaviors were more common in males than females, regardless of comorbid ADHD symptoms. For many psychiatric symptoms, screening prevalence rates were highest for the ADHD groups (ADHD+tics>ADHD>T>Non). However, obsessive–compulsive and simple and social phobia symptoms were more common in the groups with tic behavior. Findings for a community-based sample show many similarities with studies of clinically referred samples suggesting that teacher-completed ratings of DSM-IV symptoms may be a useful methodology for investigating the phenomenology of tic disorders.

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.

Differences in motor development and the relationship between motor and language development were studied in 88 children with familial risk for dyslexia (43 females, 45 males; at-risk group) and 88 children without familial risk for dyslexia (35 females, 53 females; control group; n=176) during the first two years of life. A structured parental questionnaire was used to assess motor development. Expressive language skills were assessed at the age of 18 months with the Reynell Developmental Language Scales and at 18 and 24 months with the MacArthur Communicative Development Inventories. At group level, the motor development of children in both the at-risk and control groups was similar. However, motor development showed a different pattern in these groups. Cluster analyses revealed three clusters in the control group: ‘fast motor development’, ‘slow fine motor development’, and ‘slow gross motor development’. In the at-risk group, only two clusters were found: ‘slow motor development’ and ‘fast motor development’. A significant difference (p=0.03) was found between the clusters in the MacArthur Communicative Development Inventories. Children with familial risk for dyslexia and slow motor development had a smaller vocabulary and produced shorter sentences than all the other children. Associations between motor and language difficulties are discussed.

One commonly observed neuroanatomical abnormality in adults with Williams syndrome is an enlarged cerebellum relative to a small cerebrum. Our study is the first to examine neuroanatomy in young children with Williams syndrome. Clinical brain MRI was examined in nine young children with Williams syndrome (mean age 21 months, range 7 to 43 months) relative to nine age- and sex-matched normally developing control children (mean age 29 months, range 20 to 42 months), and two children with undiagnosed developmental disorders (6 and 41 months). Two neuroradiologists who were blinded to participant classification, hypotheses, and regions of interest for the study, sorted the brain scans into two groups on the basis of six neuroanatomical criteria. The raters placed more of the MR scans from children with Williams syndrome into a separate group when they analyzed features of the cerebellum, but not when they analyzed other brain regions. Based on their written comments, the raters focused on the large size of the cerebellum in the children with Williams syndrome. The results lead us to suggest that abnormal cerebellar enlargement is evident in those with Williams syndrome at an early age. Our results are discussed relative to the cognitive delays observed in Williams syndrome versus other disorders such as autism, leading us to suggest that the cerebellum may play a role in cognition.

The Test of Infant Motor Performance (TIMP) is a test of functional movement in infants from 32 weeks' post-conceptional age to 4 months postterm. The purpose of this study was to assess in 96 infants (44 females, 52 males) with varying risk, the relation between measures on the TIMP at 7, 30, 60, and 90 days after term age and percentile ranks (PR) on the Alberta Infant Motor Scale (AIMS). Correlation between scores on the TIMP and the AIMS was highest for TIMP tests at 90 days and AIMS testing at 6 months (r=0.67, p=0.0001), but all comparisons were statistically significant except those between the TIMP at 7 days and AIMS PR at 9 months. In a multiple regression analysis combining a perinatal risk score and 7-day TIMP measures to predict 12-month AIMS PR, risk, but not TIMP, predicted outcome (21% of variance explained). At older ages TIMP measures made increasing contributions to prediction of 12-month AIMS PR (30% of variance explained by 90-day TIMP). The best TIMP score to maximize specificity and correctly identify 84% of the infants above versus below the 10th PR at 6 months was a cut-off point of 1 SD below the mean. The same cut-off point correctly identified 88% of the infants at 12 months. A cut-off of –0.5 SD, however, maximized sensitivity at 92%. A negative test result, i.e. score above –0.5 SD at 3 months, carried only a 2% probability of a poor 12-month outcome. We conclude that TIMP scores significantly predict AIMS PR 6 to 12 months later, but the TIMP at 3 months of age has the greatest degree of validity for predicting motor performance on the AIMS at 12 months and can be used clinically to identify infants likely to benefit from intervention.

The aim of the study was to describe ocular motility in a sample of 56 patients affected by cerebral visual impairment (CVI) of hypoxic–ischemic origin. The sample consisted of 56 participants (37 males and 19 females), ranging in age from 2 to 16 years. In all cases CVI was associated with MRI-verified damage of the cerebral visual system. A complete ophthalmologic and neurological assessment was performed. Behaviour of gaze was studied in four conditions: during scanning of the surrounding environment, during fixation, execution of saccades, and pursuing. In addition, strabismus, nystagmus, and paroxysmal ocular deviations were evaluated. Ocular motility was studied by video recording the patients' eye motility during orthoptic examination. Each pattern of ocular motility studied revealed profound alterations in all the individuals examined. Typical features of ocular motility in CVI were: paroxysmal ocular deviations (present in 78%); the presence of variable angle strabismus (86%); and defective coordination of saccades (93%). Exploration of the environment and fixation were also impaired (88% and 84%, respectively). Disorders of initiation and performing saccades, absence of smooth pursuit, vergence abnormalities, nystagmus beats, instability of fixation, and difficulty in the systematic exploration of the environment were observed. These abnormalities characterize lack of gaze coordination found in children with brain damage. An early and detailed evaluation of ocular motility in individuals with CVI is important, especially when rehabilitation intervention is intended.

Although clinical syndromes of visual–spatial neglect have been well described in adults, clinical features of neglect associated with subcortical dysfunction are infrequently reported in children and have not been described in detail. Unilateral visual–spatial neglect in a 7-year-old male following removal of a right subcortical juvenile pilocytic astrocytoma is reported. Preoperative baseline neurocognitive assessment of the patient established intact attentional and intellectual functioning. Postoperatively visual–spatial neglect was observed that was not accounted for by the patient's visual field deficit. Consistent with classic features of attentional neglect, increases in attentional demands led to greater errors in performance. The risk of unilateral neglect following resection of subcortical tumors that abut the thalamus or disrupt thalamo-cortical projections was confirmed in a retrospective analysis of patients referred for neurocognitive testing at our site. It was concluded that the ventral thalamus may play a role in visual–spatial attention early in development.

Postural control deficits have been suggested to be a major component of gait disorders in cerebral palsy (CP). Standing balance was investigated in 23 ambulatory children and adolescents with spastic diplegic CP, ages 5 to 18 years, and compared with values of 92 children without disability, ages 5 to 18 years, while they stood on a force plate with eyes open or eyes closed. The measurements included center of pressure calculations of path length per second, average radial displacement, mean frequency of sway, and Brownian random motion measures of the short-term diffusion coefficient, and the long-term scaling exponent. In the majority of children with CP (14 of 23) all standing balance values were normal. However, approximately one-third of the children with CP (eight of 23) had abnormal values in at least two of the six center of pressure measures. Thus, mean values for path length, average radial displacement, and diffusion coefficient were higher for participants with CP compared with control individuals with eyes open and closed (p<0.05). Mean values for frequency of sway and the long-term scaling exponent were lower for participants with CP compared with control participants (p<0.05). Increased average radial displacement was the most common (nine of 23) postural control deficit. There was no increase in abnormal values with eyes closed compared with eyes open for participants with CP, indicating that most participants with CP had normal dependence on visual feedback to maintain balance. Identification of those children with impaired standing balance can delineate factors that contribute to the patient's gait disorder and help to guide treatment.

The past decade has seen unparalleled advances in the application of molecular genetic methods to the study of neurodevelopmental disorder, including disorders with significant learning disability. Alongside this development there has been a substantial growth in the number of studies attempting to link genomic changes (deletion, reduplication, or silencing of genes) to cognitive and behaviour outcomes: in essence to link genotype to phenotype. A main benefit of this approach is that it permits an insight into the range of strengths and difficulties that can be associated with a disorder which in turn can guide the general management of children and adults with genetic causes of learning disabilities. One such disorder that has attracted attention in recent years is Cri du chat syndrome (CDC), first described by the French paediatrician Lejeune in 1963 who coined the term ‘cri du chat’ (‘cry of the cat’). Indeed, the hallmark cat cry is still regarded as an important early clinical diagnostic feature of this syndrome in some but not all affected newborn infants. Further research in the 1960s and 70s resulted in the publication of numerous case reports and a triad of clinical features became associated with CDC: the cat-like cry, dysmorphic facies, and profound global learning disability. It is now recognized that this triad does not present in all patients. Additional clinical features were also cited as being significantly over-represented in the condition. These included increased early childhood morbidity, restrictive language skills, and severely delayed psychomotor development. This somewhat pessimistic portrayal of CDC was challenged in the 1980s by the findings obtained from population-based studies and questioned more intensely in the 1990s as advances in molecular genetics allowed greater clarification of the syndrome's genotype and more detailed cognitive and behavioural studies demonstrated wider variability within the phenotype.