The objective of this study was to determine the prevalence, circumstances, and outcome of fractures in males with Duchenne muscular dystrophy (DMD) attending neuromuscular clinics. Three hundred and seventy-eight males (median age 12 years, range 1 to 25 years) attending four neuromuscular centres were studied by case-note review supplemented by GP letter or by interview at the time of clinic attendance. Seventy-nine (20.9%) of these patients had experienced fractures. Forty-one percent of fractures were in patients aged 8 to 11 years and 48% in independently ambulant patients. Falling was the most common mechanism of fracture. Upper-limb fractures were most common in males using knee–ankle–foot orthoses (65%) while lower-limb fractures predominated in independently mobile and wheelchair dependent males (54% and 68% respectively). Twenty percent of ambulant males and 27% of those using orthoses lost mobility permanently as a result of the fracture. In a substantial proportion of males, the occurrence of a fracture had a significant impact on subsequent mobility.

This study investigated the reliability of the modified Tardieu scale in the assessment of biceps spasticity in the upper limbs of children with hemiplegic cerebral palsy (CP). Ten children, with hemiplegic CP participated in the study: six males (mean age 9 years, SD 4 years) and four females (mean age 12 years, SD 3 years). Blinded, duplicate measures of dynamic elbow extension were performed on the hemiplegic arm at time 0 and 7 days later, using the three angular velocities described in the Tardieu scale (V1, slow; V2, speed of gravity; V3, as fast as possible). The resulting elbow joint angles were defined as R1, the angle of catch following a fast velocity stretch at either V2 or V3; and R2, the passive range of movement achieved following a slow velocity stretch at V1. Both elbow joint angle and movement angular velocity were measured by three-dimensional kinematics. Median error in measured elbow joint angle within one session ranged from 3 to 5°. Between sessions median absolute differences in measured elbow joint angle ranged from 4 to 13°, with measurement errors of up to 25 to 30° in some participants at the fastest velocity (V3). The therapist was able to apply three significantly different angular velocities as required for the Tardieu scale (p<0.001). However, the ranges of the three angular velocities overlapped, with fast velocities for some participants being equivalent to slow velocities for other participants. Three out of 10 participants had an intersessional difference in their R2–R1 score of more than 20°. From this study, we concluded that the R2–R1 value determined from the modified Tardieu scale may be of limited value in assessing biceps spasticity the upper limbs in children with hemiplegic CP.

We report the rare presentation of Menkes disease with a congenital skull fracture, intracerebral bleeding, and seizures. The diagnosis was made at 3 months of age based on the characteristic features of the syndrome, by which time the child experienced uncontrollable seizures. Following progressive neurodegeneration, death occurred at 3 years of age. The prognosis in Menkes disease is dependent on early copper-histidine therapy. Effective treatment has led to children surviving into adulthood. Diagnosing the syndrome during the neonatal period is difficult. There are no published reports of congenital skull fracture as a presenting sign of Menkes disease. It is concluded that Menkes disease should be considered in any child who presents with congenital skull fracture as early diagnosis and treatment significantly improve the outcome.

Rotation characteristics in gait and passive rotation of the lower limbs were evaluated retrospectively in 105 patients with diplegic cerebral palsy (65 males, 40 females; mean age 13y [SD 6y 9mo]; range 4y 4mo–40y 5mo). Of 105 patients, 22 (20.9%) required crutches, sticks, tripods, or a K-walker for their daily ambulation. Twelve (11.5%) patients used a wheelchair or buggy for community distances, e.g. shopping. Significant differences in rotational characteristics were found at the pelvis, hip, knee, and foot between left and right legs. Patients who were more affected on the right (group R, n=33) or the left side (group L, n=39) were re-evaluated. There was also a group of patients who were not asymmetrically affected (group S, n=33). In group L, maximum passive internal rotation was significantly greater on the left side, while no difference between the sides was found in group R. Peak internal rotation in gait was significantly higher on the right side in group R, but did not differ significantly between the sides in group L. Right hindfoot–thigh angle and transmalleolar axis were more external on the right, irrespective of which leg was more affected. These findings may have implications for the early non-operative management of limb posture in infants with diplegia and the surgical management of established lower extremity malrotation.

Children with developmental disabilities often show a variety of associated impairments that lead to a lifelong need for additional care. Careful assessment of these impairments is required not only for diagnostic purposes but also to inform the parents about the expected additional care needs in the future. We present a systematic review of the literature to identify instruments that classify the type and amount of this care for the individual child. A literature search was performed in the Medline database (January 1966 – June 2005) on instruments that classify the type and amount of expected additional care needs in the future. Seven standardized measurement instruments describing current additional care needs were identified, but none of these instruments was developed to provide information about the expected need for additional care in the future. For parents of young children with non-progressive developmental disorders it is essential to be informed on the expectations of required additional care in the future. However, comprehensive instruments providing such information are currently lacking and, thus, need to be developed.

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.

The purpose of this study was to identify factors associated with health-related quality of life (HRQOL) in individuals with myelomeningocele. Eighteen female and 16 male patients with myelomeningocele (mean age 13y, SD 6y; range 4 to 27y) were prospectively enrolled. Twenty-four of the patients had lesions at or above the L4 level, and 11 were wheelchair dependent. Twenty-five patients had shunted hydrocephalus; mean IQ of the cohort on testing was 85 (SD 18; range 36 to 111). Functional independence was measured in three areas (self-care, mobility, and social cognition) using the Functional Independence Measure for Children (WeeFIM). The Support Function Scale (social supports available to the family), the Amount of Assistance Questionnaire (assistance required for activities of daily living), and the Health Utilities Index II (HUI-II; perceived health status measure) were completed by participants or their parents. Each patient's HRQOL was quantified using a ‘feeling thermometer’, which is a plastic ‘thermometer’ scaled from 0 (least desirable health state) to 100 (perfect health). Results of multiple regression analysis using HRQOL as the dependent variable revealed that the Amount of Assistance Questionnaire, WeeFIM self-care, and HUI-II were significantly correlated with quality of life ratings (p<0.025). Maximizing functional independence should be a priority in improving HRQOL in individuals with myelomeningocele.

The aim of this prospective cohort study was to evaluate the impact of gastrostomy tube feeding on the quality of life of carers of children with cerebral palsy (CP). Short-Form 36 version II was used to measure quality of life in carers of 57 Caucasian children with CP (28 females, 29 males; median age 4y 4mo, range 5mo to 17y 3mo) six and 12 months after insertion of a gastrostomy tube. Responses were calibrated against a normative dataset (Oxford Healthy Life Survey III). Six months after gastrostomy feeding was started, a substantial rise in mean domain scores for mental health, role limitations due to emotional problems, physical functioning, social functioning, and energy/vitality were observed. At 12 months after gastrostomy placement, carers reported significant improvements in social functioning, mental health, energy/vitality (mean increase >9.8 points; p<0.03), and in general health perception (mean increase 6.35 points; p=0.045) compared with results at baseline. Moreover, the values obtained for these domains at 12 months were not significantly different from the normal reference standard. Carers reported a significant reduction in feeding times, increased ease of drug administration, and reduced concern about their child's nutritional status. This study has demonstrated a significant, measurable improvement in the quality of life of carers after insertion of a gastrostomy feeding tube.

In recent years, bisphosphonates, primarily intravenous (iv) pamidronate, have become very widely used in children with severe osteogenesis imperfecta (OI). This has occurred without the well-controlled clinical trials usually required before a medication becomes ‘standard care’. Without placebo-controlled trials it is difficult to define precisely the risks and the benefits, but in children with very severe OI and numerous fractures the risk/benefit ratio is so clearly favorable that widespread use of pamidronate in this situation appears appropriate.

Cerebral Palsy (CP) has been discussed as a disease entity for decades. Today it is considered a group of disorders with different aetiologies, which constitutes a useful socio-medical framework for certain children with motor disabilities with special needs. Many countries run registers, which are important for service planning and for monitoring trends in CP rates.

Several articles in this issue reinforce Aicardi's dictum that in epilepsy, seizures are only the tip of the iceberg. They remind us that epilepsy is a symptom of a brain disorder and that children with epilepsy can have extra needs that may or may not be due to the epilepsy itself. Rightly, there has been increasing emphasis that proper medical management encompasses more than ‘just’ seizure control. Quality of life measures in childhood epilepsy are still not perfect, but they suggest only a moderate association with seizure control. Social inclusion, lifestyle restrictions, effects on family life, associated physical impairments, learning and/or behaviour difficulties, and unwanted effects from treatment are all recognized as major factors, as well as seizure frequency and severity. More recently we are finding how prevalent attentional difficulties, including attention-deficit–hyperactivity disorder, are in children with epilepsy and the importance of sleep problems.

In this report, an unusual intracranial haemorrhage in a term male infant born to a mother with diabetes is explained on the basis of occlusion of both basal veins of Rosenthal. This diagnosis relies on anatomical location and iconographic aspect of the clots. Evidence that this vessel is occluded cannot be ascertained from ultrasound or MR angiographic techniques in the neonatal period. The basal vein has not been implicated in previous reports of neonatal brain haemorrhage.

Several studies have tried to establish the prevalence of visual–perceptual impairment in children with physical disabilities, particularly in those with cerebral palsy (CP), but failed to take into account the selective impairment of non-verbal intelligence that is frequent in these children. This has resulted in the confounding of visual–perceptual and non-verbal intelligence impairment. In the present study we aimed to determine how widespread visual–perceptual impairment is in children with CP by evaluating perceptual ability together with the performance level on non-verbal intelligence subtests. All children (n=96; 44 females, 52 males) who attended an institute for children with physical disabilities were included (age ranged from 4 years 11 months to 21 years 5 months) who had a non-verbal mental age between 3 and 7 years; Total IQ was <85 in 91% of participants. They were given a grating acuity task and the visual–perceptual battery L94, comprising six visual object recognition and two visuoconstruction tasks. Relative to their performance level on non-verbal intelligence subtests, 37.5% of the children were impaired on at least one task, and 18.7% on two or more tasks. No child was impaired on the visuoconstruction tasks. Visual–perceptual impairment was highest among six children with brain malformation (67%), followed by spastic CP (40%), and brain damage acquired after the first year of life (38%). There was no difference in visual–perceptual impairment between the subtypes of spastic CP. Results are not secondary to visual acuity deficits, as only one L94 task was significantly correlated with acuity impairment. We conclude that visual–perceptual impairment is frequent in children with physical disabilities, and not restricted to children with CP of hypoxic–ischaemic origin.

The aim of this study was to describe child health and well-being across the spectrum of cerebral palsy (CP) and to report on psychometric properties of the Child Health Questionnaire (CHQ) in this population. Parents of 80 individuals (45 males, 35 females; mean age 11 years 4 months, SD 3 years 6 months; range 5 to 18 years) attending a CP clinic in Victoria, Australia were surveyed. Measures included the CHQ PF-50, a 50-item parent-reported heath status measure; severity of CP, based on the Gross Motor Function Classification System; and cognitive status and presence of epilepsy. CHQ data were compared with normative data collected in Victoria two years earlier. The CHQ demonstrated good psychometric properties for children with CP. Children with CP had markedly poorer health on every CHQ scale than those in the normative sample. Health status did not vary by cognitive status or epilepsy. Children with severe CP had the poorest physical health, but psychosocial health and emotional impact on parents were similar for mild and severe CP showing that these should not be assumed to be less prevalent when CP is mild.

Developmental Coordination Disorder (DCD) is a condition affecting explicitly the motoric, physical, psycho-social, and academic spheres of approximately 8% of children and adolescents. Considerable research has been conducted in order to understand the latent pathophysiology generating the various negative outcomes of DCD. Unfortunately, no convincing evidence exists as yet to support one particular theory.