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.

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.

Children with motor coordination problems are known to have emotional difficulties and poor social skills. The current study investigated whether children with poor motor ability have poor emotion recognition skills, and whether these could be linked to problems in social behaviour. It was hypothesized that difficulties in empathic ability might be related to the poor visuo-spatial processing ability identified in children with developmental coordination disorder (as defined by the American Psychiatric Association). The relationship between motor coordination, emotion recognition, and social behaviour was examined in a sample of 234 children (113 males, 121 females; mean age 9y 7mo, [SD 1y 8mo] age range 6y 8mo to 12y 11mo). From this sample two groups of 39 children each (17 females, 22 males), one group with motor difficulties (mean age 9y 11mo [SD 2y], range 6y 11mo to 12y 11mo) and the other of control children (mean age 10y [SD 1y 11mo], range 6y 11mo to 12y 11mo), matched for age and sex, were compared using a set of six emotion recognition scales that measured both verbal and perceptual aspects of empathic ability. Children with motor difficulties were found to perform more poorly on scales measuring the ability to recognize static and changing facial expressions of emotion. This difference remained even when visuo-spatial processing was controlled. When controlling for emotion recognition and visuo-spatial organization, a child's motor ability remained a significant predictor of social behaviour.

A study of 37 individuals with phenylketonuria (PKU; 17 females and 20 males, mean age 9y 9mo (standard deviation [SD] 5y 3mo), range 2y 8mo to 19y 4mo; and 35 individuals with hyperphenylalaninaemia (HPA; 20 females, 15 males, mean age 7y 10mo [SD 3y 2mo], range 2y 8mo to 17y 3mo) compared with 29 healthy controls (14 females and 15 males, mean age 9y 8mo [SD 4y 9mo], range 2y 6mo to 18y 10mo) was performed. The aim was to assess cognitive function in persons with HPA and to investigate the relation between cognitive function in PKU and the metabolic control of patients. A wide variety of neuropsychological tests was employed. Those with PKU showed lower values in intelligence and in visuo-spatial, fine motor, executive, and attention functions when compared with a control population. Plasma phenylalanine values from the first 6 years of life were negatively associated with intelligence and other cognitive functions. Executive function scores were significantly lower when comparing HPA patients with the control group. It was concluded that individuals with PKU under dietary treatment may present slightly decreased cognitive function scores when compared with control individuals, while those with HPA have scores mostly similar to those of controls, except for executive function tests. Good metabolic control of PKU seems necessary to prevent cognitive function impairments, especially during the first 6 years of life.

This study investigated sex and age differences in standing balance. Movement of the centre of pressure (COP) was calculated from ground reaction force data collected from a force platform during bipedal stance with eyes open and eyes closed. Three groups of 60 children, with 30 girls and 30 boys in each, were assessed. Mean ages of each group were as follows: 9 years 11 months (standard deviation [SD] 3mo); 12 years 11 months (SD2mo); and 15 years 11 months (SD3mo) respectively. Summary sway parameters and frequency domain variables were calculated in the anteroposterior and mediolateral directions. Boys exhibited greater COP movement than girls at 9 to 10 years of age. Age-related ‘improvements’ in sway occurred in boys, thus some aspects of postural control are still developing after 9 to 10 years of age. As very little age-related difference was seen in girls, boys may lag behind somewhat in terms of developing postural control. Thus there is a need to study the sexes separately when investigating balance in children.

This study explored possible neural mechanisms that contribute to improvements in balance control produced by reactive balance training in children with cerebral palsy (CP). Six children with CP (four males, two females; mean age 9y 4mo), two with spastic hemiplegia (Gross Motor Function Classification System [GMFCS] level I) and four with spastic diplegia (GMFCS level II,) were given 5 days of intensive training in reactive balance control (100 perturbations per day on a moveable force platform). Surface electromyography was used to characterize changes in neuromuscular responses pretraining, immediately posttraining, and 1 month posttraining. Training in reactive balance control resulted in improvements in directional specificity of responses (a basic level of response organization) and other spatial/temporal characteristics including: (1) faster activation of muscle contraction after training, allowing children to recover stability faster; (2) emergence of a distal–proximal muscle sequence; and (3) improved ability to modulate the amplitude of muscle activity (increased amplitude of agonist and decreased amplitude of antagonist, reducing coactivation). Each child with spastic hemiplegia or diplegia showed a different combination of factors that contributed to improved performance; the level of change in neural factors depended on the severity of involvement of the child: hemiplegia vs diplegia, and level of involvement within each diagnostic category.

The purpose of this study was to determine whether the Gross Motor Function Measure (GMFM-88) is sensitive to within-child changes in function as a result of children who use an ambulatory aid or orthoses in comparison with unaided or barefoot function. Data from 257 children (140 males, 117 females) with cerebral palsy (CP) were analyzed from a 5-year longitudinal study. The children's age ranged from 2 to 15 years (mean 7y 4mo; SD 2y 11mo), and type of CP, included spastic (n=206 [80.2%]), dyskinetic (n=13 [5.1%]), ataxic (n=9 [3.5%]), hypotonic or mixed (n=27 [10.5%]), and those missing (n=2 [0.8%]), and in motor ability (Gross Motor Function Classification System [:GMFCS] levels I, n=40, II, n=34, III, n=93, IV, n=76, and V, n=14). Paired t-tests between barefoot and aided assessments showed significantly higher GMFM-88 total scores overall (n=257) for aided assessment and for three subgroups (ankle–foot orthoses only, ambulatory aid only, ankle–foot orthoses plus ambulatory aid), providing evidence that the GMFM-88 is sensitive to functional changes as a result of using an aid and/or orthoses. With regard to changes within the orthoses-only group, significant changes varied by GMFCS level. The GMFM-88 might provide a clinically useful tool to help in understanding the impact of ambulatory aids and orthoses on gross motor skills of children with CP.

The objective of this study was to determine whether the use of intramuscular botulinum toxin A (BTX-A) increases upper limb function and skills in the context of a specific therapy programme in children with hemiparetic cerebral palsy. Twenty children (nine females, 11 males) aged 4 to 16 years who were thought likely to benefit from BTX-A treatment were included. After matched pairs were made, on the basis of Zancolli grade and age, randomization took place. All patients were given structured rehabilitation (physiotherapy and occupational therapy three times a week for 6 months), and half of the patients received intramuscular BTX-A. No placebo injections were given in the control group. Participants were assessed at baseline, at 2 and 6 weeks, and at 3, 6, and 9 months after injection. The Ashworth scale, active range of motion of arm joints, the Melbourne assessment of upper limb function, the Pediatric Evaluation of Disability Inventory, and the nine-hole peg test were used for outcome measurement. Observers were blinded for treatment allocation only for scoring the Melbourne test. The children in the treatment group showed a clinically relevant increase in active dorsal flexion, and tone reduction of the wrist. For the functional outcome measures, no statistically significant differences between the groups could be demonstrated. Intramuscular BTX-A added to an intensive therapy programme reduces impairment for at least 9 months; the effect on activity level is still uncertain.

Clinical data on Duchenne muscular dystrophy (DMD) are lacking in developing countries. The objective of this study was to delineate the demographic characteristics, investigations, and outcome of 21 Malaysian males diagnosed with DMD over a period of 10 years. Mean age presentation was 3 years 8 months (SD 23mo; range 10 to 84mo), mean duration from first presentation to diagnosis was 3y 7mo (SD 26mo; range 5 to 84) and the mean age for loss of ambulation was 11 years (SD 25mo; range 102 to 168). There was family history of DMD in five of the 21 patients. Muscle biopsy showed confirmatory findings of DMD in the 16 patients tested. Molecular genetic analysis showed dystrophin gene deletions in 11 of these 16 patients. Four and seven of the students stopped schooling and had learning difficulties, respectively; only nine had satisfactory school performances. Eight out of 14 patients evaluated were classified as having severe to total dependency levels on the modified Barthel Index for activities of daily living assessment. DMD is associated with significant medical and social needs for a developing country such as Malaysia. Earlier referral, genetic counselling, and provision of support and rehabilitative services are the main priorities.

This study aimed to: classify a cohort of children and adolescents with myotonic dystrophy (dystrophia myotonica: DM) into congenital and childhood onset forms; estimate CTG expansion size; and quantify muscle strength, contractures, and motor function in children with DM and compare results with those of controls. Participants were clinically examined, medical records were reviewed, and isometric muscle strength, contractures, and motor function were measured. Participants were: 42 children with DM (18 females, 24 males; mean age 8y 9mo [SD 4y 7mo], range 10mo to 17y) and 42 age- and sex-matched, healthy controls. Children with DM were divided into three groups: severe congenital (n=13), mild congenital (n=15), and childhood (n=14). Children with childhood DM were significantly weaker than controls (wrist and ankle dorsiflexors [p=0.0044, p=0.0044 respectively]; hip abductors and flexors [p=0.0464, p=0.0217]; and knee flexors and extensors: [p=0.0382, p=0.0033]). Children with mild congenital DM were significantly weaker than controls in all assessed muscle groups. Contractures and skeletal deformities were more frequent at time of investigation than at birth, suggesting that foot and spine deformities in particular increase over time. Motor function score was significantly lower for children with DM than for controls. Children with severe congenital DM had the lowest motor function, with correlation between motor function and size of CTG repeat (ρ=–0.743). Children found jumping, heel standing, and head lifting the most difficult items to perform but few had difficulty walking, running, or stair climbing. DM in children is a heterogeneous disorder with a wide spectrum of muscle involvement, and owing to increased risk of contractures and skeletal deformities, regular follow-ups are recommended.

We report on a 13-year-old male who had acute enteroviral encephalitis causing cerebellar symptoms at the age of 10 years. Magnetic resonance imaging (MRI) showed no abnormalities. Clinically he appeared to be recovered completely after 6 months. Twenty-three months after the recovery, MRI was performed because he presented with slight lower-limb and truncal ataxia experienced as lack of foot coordination while playing football or riding a bicycle. MRI demonstrated severe cerebellar atrophy. Clinically he recovered completely in 10 days. Only sophisticated electrophysiological methods revealed cerebellar dysfunction. The case provides evidence for the plasticity of cerebellar regulatory structures involved in the coordination of fine movements. It seems that in childhood the slow, isolated disintegration of cerebellar systems can be compensated for by upper thalamic or telencephalic connections, in a similar way to a congenital deficit of the cerebellum.

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.

As yet, there is no aetiology-based intervention for autistic spectrum disorders (ASD); despite this, parents and professionals still need to make informed decisions regarding treatment options for children with ASD. This paper seeks to evaluate widely used interventions according to specific research criteria. Interventions presented are grouped into psychoeducational/behavioural approaches, psychopharmacological interventions, and the less traditional or complementary approaches. The conclusions are less than favourable: while some interventions do have empirical support, others have been proven to have no positive effects, and furthermore, there are no robust data favouring one approach over the others. Nevertheless, several criteria for choosing between treatment options are briefly discussed.

The notion of talent is an elusive concept but there appears to be sound evidence that both savants and experts share important qualities. Brief descriptive accounts of the talents displayed by savants are presented, along with a discussion of intelligence, implicit learning, and the organization of knowledge. Cognitive theories helpful in understanding exceptional abilities in people with autism are also discussed. It is concluded that a certain cognitive style, i.e. weak coherence, may predispose individuals to develop their talents. Although it would be interesting to speculate that some great artists and mathematicians show a similar degree of obsessive preoccupation and a cognitive style reminiscent of autistic spectrum disorder, presumably as a strategic mechanism, there is, as yet, little research on the subject.