Physical therapy is considered to be an important part of the management of cerebral palsy (CP); but what type of therapy, at what intensity, and for how long? These are questions which are not easily answered. Much valid criticism is directed towards the so-called ‘named’ therapy approaches because of the lack of a sound scientific basis and proof of efficacy. There is certainly little or no evidence to support the effectiveness of any particular approach, nor is there evidence to demonstrate superiority of one approach over another. Increasingly, therapists are being urged to adopt evidence-based intervention, but is there adequate, robust evidence available to enable them to do this? And how can available evidence be translated into effective practice? Certainly there are pockets of evidence to support the use of various forgotten and emerging modalities, such as muscle strengthening, constraint-induced movement therapy, and task-specific learning. This is encouraging; but such evidence cannot be generalized to all children with CP, particularly those who are classified as level IV and V on the Gross Motor Function Classification System, or to those who reside in disadvantaged environments. How can therapy for children with a multifaceted and complex disorder such as CP reach the stage where it is based on sound evidence?

A diagnosis of 22q.11 deletion syndrome (del22q.11) in a child brings with it a plethora of uncertainty in terms of developmental and neuropsychiatric prognosis. This relatively common genetic disorder has a highly variable phenotype with a multitude of potential physical features including palatal anomalies, congenital heart defects, facial dysmorphism, immunodeficiency, and hypoparathyroidism. As a result, patients may present in paediatric, cleft lip/palate, psychiatric, or antenatal clinics. It is necessary, therefore, that the multidisciplinary team are aware of this diagnosis. The overall clinical phenotype ranges from subtle isolated findings to severe multisystem involvement, even in the same family. The neurobehavioural phenotype is also highly variable. The spectrum of developmental delay, learning difficulties, behavioural problems, speech and language deficits, and psychiatric disorders seen in del22q.11 is well recognized. The implications for parents, medical professionals, educational staff and, indeed, the patients are significant. Thus, better understanding of the cognitive and behavioural problems could lead to the development of effective, targeted interventions and improved management.

Velocardiofacial syndrome is identified by a submicroscopic deletion of chromosome 22q.11 (del22q.11). This study presents data on the early motor development and behaviour of 11 children (8 males, 3 females) with del22q.11 (mean age 41mo, SD 9.7mo) with a congenital heart defect. To control for the impact of the congenital heart defect, a control group of 19 children (15 males, 4 females; mean age 46mo, SD 9mo) with the same types of congenital heart defects but without del22q.11 was selected. Motor development in both groups was measured with the Peabody Developmental Motor Scales-2. Behaviour was assessed with the Child Behaviour Checklist. Children with del22q.11 scored significantly lower (p<0.05) on motor performance than the children of the control group. Most deficient motor skills were found for the subtests Locomotion and Stationary. On the behaviour questionnaire, a statistically significant (p<0.05) difference between the two groups was found only for the subscale Withdrawn. These data reveal a significant motor delay in many young children with del22q.11, which is not caused by the presence of a congenital heart defect or by behavioural features.

This study examined attention abilities of children with 22q.11 deletion syndrome. Thirty children (14 males, 16 females; age range 7 to 13y) were given comprehensive neuropsychological and neuropsychiatric assessments. Learning disability was found in 13 children. Superiority in verbal over performance IQ was very common. Attention-deficit–hyperactivity disorder (mainly of inattentive subtype) was diagnosed in 13 children. There appeared to be a relation between low IQ and presence of autism spectrum problems. The presence of attention deficits was clearly supported by the scores on the Child Behavior Checklist and the Conners Questionnaire. On the Becker attention tests the reaction times were significantly longer in the two visual and auditory tests, indicating that the ability to sustain attention is critically impaired in this group. A tendency of inferiority on auditory compared with visual tests was noted but there were no specific problems with the focus–execute aspect of attention.

Participation and activity performance (motor and cognitive or behavioural) were examined in 148 children with cerebral palsy (CP; 87 males, 61 females; mean age 9y 8mo, SD 1y 11mo; range 6y 1mo to 13y 7mo), mainstreamed in fully inclusive (n=100) and in self-contained classes (n=48) within general schools in Israel, using the School Function Assessment. Differences in participation within these groups were analyzed in relation to the type of CP (mainly spastic hemiplegia, spastic diplegia, and spastic tetraplegia), the level of impairment according to the Gross Motor Function Classification System (GMFCS; level II 55%, level III 37%, and level IV 8%), and additional neuroimpairments. Univariate analyses of variance revealed significant differences in levels of participation and levels of activity performance between different types of CP and GMFCS levels. With regard to additional neuroimpairments, significant differences in participation were found for fully included children with speech and language impairments and those with learning disability within the self-contained group. Physical activity performance partly accounted for differences in participation between children with different types of CP and different levels of motor impairment. These findings suggest that within the mainstreamed environment, participation and activity performance increase as motor disability and/or additional neuroimpairments (speech and language impairments and learning disability) decrease.

Ocular motor apraxia (OMA), a disorder of saccadic initiation, may be congenital or acquired. While the acquired form is frequently associated with significant neuropathology, the congenital form is often regarded as relatively benign. Many children with congenital OMA who were observed clinically have shown neurodevelopmental disturbance over time. A retrospective review was taken of 34 consecutive patients (22 males and 12 females), seen over a 20-year period, to evaluate the frequency and type of associated neurodevelopmental problems. Age at presentation ranged from 8 weeks to 14 years, with a mean age of 10 years. Of 29 children with congenital OMA, 15 had imaging evidence of structural central nervous system abnormalities (with cerebellar hypoplasia the most frequent abnormality detected). Eleven of the 14 patients with no structural abnormality showed abnormal neurodevelopment. This study suggests that congenital OMA is not a benign diagnosis, even in the absence of overt neurological disturbance at the time of presentation.

The aim of this study was to examine the stability of the second edition of the Bayley Scales of Infant Development (Bayley II) by correlating Bayley II scores during the first year of life with Bayley II scores at approximately 18 months of age. Bayley II Mental and Motor Scales were administered to 119 infants (69 males, 50 females) during their first year of life; mean age for low-risk group 7 months (SD 3.01) and mean age for high-risk group 7.8 months (SD 2.46). A second set of Bayley II scores was collected on 104 of the infants at 17 to 22 months of age; mean age for low-risk group 18.5 months (SD 1.07) and mean age for high-risk group 18.9 months (SD 1.11). Mean time interval between the two assessments was 11.5 months for the low-risk group and 11.15 months for the high-risk group. Stability of the scores over time was assessed. Correlations for the Bayley II Mental Developmental Index and Psychomotor Developmental Index between administrations during the first and second years of life were r=0.49 (p<0.001) and r=0.48 (p<0.001) respectively. We conclude that approximately 23 to 24% of the variance in the infants' later Bayley II scores could be explained by the earlier scores. This is one of only two studies to examine the stability of Bayley II over time. Replication studies are needed to evaluate the consistency of these findings across other samples of infants.

Intelligence is reported to decline after onset of moyamoya in Japanese populations, but there is less evidence for this in Western populations where the condition may be secondary to stroke and sickle cell anaemia (SCA). Preoperative longitudinal IQ data were obtained from 15 children (seven males, eight females) who developed moyamoya syndrome (MMS) following a stroke (six with SCA, nine without SCA), and 19 controls (10 males, nine females; nine healthy control participants, 10 with SCA). At baseline assessment (Time 1) median age of patients was 7 years 6 months (range 3y 7mo to 12y 5mo); median age of controls was 6 years 3 months (range 4y to 11y 6mo). At follow-up (Time 2), ages were 11 years 8 months (range 3y 7mo to 12y 5mo) and 12 years 8 months (range 6y 4mo to 16y 8mo) in patients and controls respectively. Median duration of follow-up for the patient group was 3 years (range 7 to 10y) and in controls, 4 years 1 month (range 1 to 10y). In children with SCA, Verbal and Performance IQs (VIQ and PIQ) were significantly lower than in controls at Time 1; there was an additional independent statistically significant reduction in PIQ associated with MMS (p=0.004). Although there were further significant reductions in IQ by the second assessment for patients with MMS compared with controls, IQ did not differ significantly between groups with and without SCA. While the reduction in IQ attributed to SCA does not appear to become more marked with increasing age, the difference between those with and without MMS is associated with increasing effect over time.

Hemiconvulsions-hemiplegia-epilepsy syndrome (HH/HHE) is a rare epileptic syndrome consisting of a prolonged unilateral convulsion producing a persisting hemiplegia, sometimes followed by epilepsy. We report on a 13-month-old male who presented with febrile left-sided HH syndrome with right hemispheric unilateral cytotoxic oedema followed by hemispheric atrophy on magnetic resonance imaging (MRI). Six months later the child progressively developed refractory focal epilepsy, including right hemiclonic seizures, and nearly continuous left frontal rhythmic spikes, suggesting the presence of a focal cortical dysplasia (FCD). A repeat MRI at 2 years of age showed left frontal FCD. This unusual case of dual pathology – right HH syndrome and left FCD – suggests that some other factor than the malformation determined the prolonged status and brain atrophy. The kinetics of regional cortical maturation could explain this unusual condition.

In children with a myopathy, muscle biopsy, together with the clinical presentation, can guide further investigations. The presence of centrally located nuclei suggests a myotubular myopathy, and gene testing may confirm this diagnosis. We describe a male child with a mild form of X-linked myotubular myopathy for which repeated muscle biopsy did not show the characteristic pattern of centrally located nuclei. Myotubular myopathy was not contemplated, therefore, until a maternally related relative was shown to have the disorder. Genetic testing showed that the index case carried the same mutation in his MTM1 gene as this relative.

Exercise for children with cerebral palsy (CP) is gaining popularity among pediatric physical therapists as an intervention choice. Exercise in water appeals to children with CP because of the unique quality of buoyancy of water that reduces joint loading and impact, and decreases the negative influences of poor balance and poor postural control. In this paper, research of land-based exercise and aquatic exercise for children with CP is reviewed. Clinically relevant considerations for aquatic exercise programming for children with CP are discussed.

Throughout the centuries, in Western culture, scientists, philosophers, and artists have been fascinated by the working of the mind. They have attempted to translate this into visual models that are able to provide tangible references to otherwise abstract concepts. These metaphors are deeply rooted in culture and their significance encompasses ideas which shape and characterize different epochs. With a consideration of visual models of the mind developed in Western thought during the 16th and 18th centuries, this article aims to provide an overview of some of the most significant metaphors developed to illustrate the working of the mind and highlight their broader cultural significance. Generally, models used to describe the brain, and consequently to conceptualize the mind, match the most recent technical achievements or important cultural developments. They illustrate the processes through which material reality and the self are perceived and represented. This article shows how these models betray broader cultural concerns and testify to the zeitgeist of an epoch.