Background Cerebral palsy is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural disturbances. Hypoxic-ischaemic injury, long considered the most frequent causative factor, accounts for fewer than 10% of cases, whereas a growing body of evidence suggests that diverse genetic abnormalities likely play a major role. Methods and results This report describes an autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1, one of the four subunits of the adaptor protein complex-4 (AP-4), identified by chromosomal microarray analysis. Conclusion These findings, along with previous reports of human and mouse mutations in other members of the complex, indicate that disruption of any one of the four subunits of AP-4 causes dysfunction of the entire complex, leading to a distinct ‘AP-4 deficiency syndrome’.

This study aims to address shortcomings of the relative phase analysis, a widely used method for assessment of coupling among joints of the lower limb. Goniometric data from 15 individuals with spastic diplegic cerebral palsy were recorded from the hip and knee joints during ambulation on a flat surface, and from a single healthy individual with no known motor impairment, over at least 10 gait cycles. The minimum relative phase (MRP) revealed substantial disparity in the timing and severity of the instance of maximum coupling, depending on which reference frame was selected: MRP(knee-hip) differed from MRP(hip-knee) by 16.1±14% of gait cycle and 50.6±77% difference in scale. Additionally, several relative phase portraits contained discontinuities which may contribute to error in phase feature extraction. These vagaries can be attributed to the predication of relative phase analysis on a transformation into the velocity-position phase plane, and the extraction of phase angle by the discontinuous arctangent operator. Here, an alternative phase analysis is proposed, wherein kinematic data is transformed into a profile of joint coupling across the entire gait cycle. By comparing joint velocities directly via a standard linear regression in the velocity-velocity phase plane, this regressed phase analysis provides several key advantages over relative phase analysis including continuity, commutativity between reference frames, and generalizability to many-joint systems.

Copyright © 2010 Elsevier B.V. All rights reserved.

Patients with hemiplegic cerebral palsy often have noticeably deviant arm posture and decreased arm movement. Here we develop a comprehensive assessment method for the upper extremity during walking. Arm posture score (APS), deviation of shoulder flexion/extension, shoulder abduction/adduction, elbow flexion/extension and wrist flexion/extension were calculated from three-dimensional gait analysis. The APS is the root mean square deviation from normal, similar to Baker's Gait Profile Score (GPS) [1]. The total range of motion (ROM) was defined as the difference between the maximum and minimum position in the gait cycle for each variable. The arm symmetry, arm posture index (API) was calculated by dividing the APS on the hemiplegic side by that on the non-involved side, and the range of motion index (ROMI) by dividing the ROM on the hemiplegic side by that on the non-involved side. Using the APS, two groups were defined. Group 1 had minor deviations, with an APS under 9.0 and a mean of 6.0 (95% CI 5.0-7.0). Group 2 had more pronounced deviations, with an APS over 9.0 and a mean of 13.1 (CI 10.8-15.5) (p=0.000). Total ROM was 60.6 in group 1 and 46.2 in group 2 (p=0.031). API was 0.89 in group 1 and 1.70 in group 2 (p<0.001). ROMI was 1.15 in group 1 and 0.69 in group 2 (p=0.003). APS describes the amount of deviation, ROM provides additional information on movement pattern and the indices the symmetry. These comprehensive objective and dynamic measurements of upper extremity abnormality can be useful in following natural progression, evaluating treatment and making prognoses in several categories of patients.

Copyright © 2010 Elsevier B.V. All rights reserved.

We have developed a vector tissue Doppler imaging (vTDI) method to quantify the magnitude and direction of tissue motion. The goal of this study was to quantify the repeatability of vTDI in measuring the contraction velocity of the tibialis anterior (TA) tendon in patients with cerebral palsy and foot drop (impaired dorsiflexion). vTDI was implemented on Ultrasonix Sonix Touch ultrasound system with a 5-14-MHz linear array transducer. The array was electronically split into two transmit and two receive apertures to estimate velocity vectors. Transmit and receive beams were steered by ±15 deg. We conducted 42 trials on 7 subjects. Our preliminary results show that TA tendon velocities measured using vTDI have a strong linear correlation with the joint angular velocity estimated using a conventional 3-D motion capture system. We observed a peak velocity of 5.20±1.58 cm?s during dorsiflexion and 8.45±2.06 cm?s during the gravity-aided passive relaxation phase. The R(2) values for all 42 trials were 0.77±0.10. A second velocity measurement was made on three subjects after an interval of 4 weeks. We obtained repeatable velocity estimates with the standard deviation of the radius of action less than 0.13 cm. This demonstrates that vTDI is a feasible and reproducible method for measuring tendon velocities.

Background The ability to sit independently is fundamental for function but delayed in infants with cerebral palsy (CP). Studies of interventions directed specifically toward sitting in infants with CP have not been reported. Objective The purpose of this study was to compare 2 interventions for improving sitting postural control in infants with CP. Design For this randomized longitudinal study, infants under 2 years of age and at risk for CP were recruited for intervention directed toward sitting independence. Setting The intervention was conducted at home or at an outpatient facility. Patients and Intervention Fifteen infants with typical development (mean age at entry=5 months, SD=0.5) were followed longitudinally as a comparison for postural variables. Thirty-five infants with delays in achieving sitting were recruited. Infants with delays were randomly assigned to receive a home program (1 time per week for 8 weeks; mean age=15.5 months, SD=7) or a perceptual-motor intervention (2 times per week for 8 weeks; mean age=14.3 months, SD=3). Measurements The primary outcome measure was center-of-pressure (COP) data, from which linear and nonlinear variables were extracted. The Gross Motor Function Measure (GMFM) sitting subsection was the clinical outcome measure. RESULTS: /b> There was a main effect of time for the GMFM sitting subscale and for 2 of the COP variables. Interaction of group × time factors indicated significant differences between intervention groups on 2 COP measures, in favor of the group with perceptual-motor intervention. Limitations The small number of infants limits the ability to generalize the findings. CONCLUSIONS:/b> Although both groups made progress on the GMFM, the COP measures indicated an advantage for the group with perceptual-motor intervention. The COP measures appear sensitive for assessment of infant posture control and quantifying intervention response.

Aim? To test a model of child, family, and service determinants of intensity of participation in leisure and recreational activities by children with cerebral palsy (CP). Method? Participants were 288 children with CP, age range 6 to 12?years (mean 9y 8mo, SD 2y), and their parents from seven children’s hospitals. The sample comprised 166 (57.6%) males and 122 (42.4%) females, and between 40 (13.9%) and 74 (25.7%) children in each of the five levels of the Gross Motor Function Classification System. Children completed the Children’s Assessment of Participation and Enjoyment by interview. Parents completed the Pediatric Outcomes Data Collection Instrument, Family Environment Scale, Coping Inventory, Measure of Processes of Care, and two questionnaires. Structural equation modeling was used to test the model. Results? Fit statistics indicated a good model fit. The model explains 32% of the variance in intensity of participation. Path coefficients (p?0.05) indicate that higher gross motor function, higher enjoyment, more effective adaptive behavior, younger age, and higher family activity orientation are associated with higher intensity of participation. The path between services and participation was not significant. Interpretation? Intensity of participation of children with CP is influenced by multiple child and family determinants. Children’s gross motor function and behavior in life situations are important for participation; knowledge of activities the child and family enjoy has implications for opportunities for participation. Professionals are encouraged to address priorities for leisure and recreation identified by children with CP and their families.

© The Authors. Journal compilation © Mac Keith Press 2010.

Aim? Children and adolescents highly value their ability to participate in relevant daily life and recreational activities. The Activities Scale for Kids-performance (ASKp) instrument measures the frequency of performance of 30 common childhood activities, and has been shown to be valid and reliable. A revised and expanded 38-item ASKp (ASKp38) version has been reported in recent literature and is currently used in clinical research. The aim of this paper is to assess the factor structure and item-level statistics of the ASKp38. Method? Our study used factor analyses and Rasch analyses to determine the item-set dimensionality and to calculate item-level statistics respectively, for existing ASKp38 data from 200 children (104 males; 96 females; mean age 12y 7mo; SD 2y 8mo; range 6-20y) with physical disabilities. The children had a variety of physical impairments including cerebral palsy (n=105; range 8-13y), limb salvage (n=18; range 11-20y), arthrogryposis (n=13; 6-17y), and other, including individuals with spina bifida and spinal cord injury (n=64; 8-19y). Results? A two-factor model, with components of activities of daily living and play, most optimally fit the data. Item-fit statistics based on this two-factor model demonstrated adequate fit and content coverage. Interpretation? The ASKp38 appears to consist of two factors, defined as (1) activities of daily living and (2) play, and may be used to measure the frequency of activity performance on two corresponding subscales.

© The Authors. Journal compilation © Mac Keith Press 2010.

Aim? Gastrostomy feeding children with spastic quadriplegic cerebral palsy (SQCP) improves weight gain but may cause excess deposition of body fat. This study was designed to investigate whether weight gain could be achieved without an adverse effect on body composition by using a low-energy feed in gastrostomy-fed children with SQCP. Method? Fourteen children (seven male; seven female; median age 2y; range 10mo-11y) with SQCP were studied, 13 of whom were classified as Gross Motor Function Classification Score (GMFCS) level V and one as GMFCS level IV. Children were eligible for the study if they weighed between 8 and 30kg with a diagnosis of severe SQCP and significant feeding difficulties in whom a clinical decision had been made to insert a gastrostomy feeding tube. The feed used in the study had an energy concentration of 0.75kcal/mL (Nutrini Low Energy Multi Fibre). Assessments were performed before gastrostomy insertion (baseline) and after 6?months, and included body composition, growth, nutritional intake, and gastrointestinal symptoms. Results? There was a significant increase in weight (median difference 1.9kg; 95% confidence interval [CI] 0.85-3.03kg; p=0.012), mid-upper arm circumference (median difference 1.45cm; 95% CI -0.36cm to 3.47cm; p=0.043), and lower leg length (median difference 1.62cm; 95% CI 0.44-3.95cm; p=0.012) over the 6?months. There was no significant increase in fat mass index (median diff 1.21, 95% CI -1.15 to 2.94, p=0.345) or fat free mass index (median diff -1.43, 95% CI -1.15 to 2.94, p=0.249). Micronutrient levels remained within reference ranges with the exception of elevated chromium. The median percentage intake of the estimated average requirements for energy (kcal) was 43% at the beginning of the study and 48.8% after 6?months on the low-energy feed. Interpretation? Children with SQCP who are fed a low-energy, micronutrient-complete, high-fibre feed continue to grow even with energy intakes below 75% of the estimated average requirements. This was not associated with a disproportionate rise in fat mass or fat percentage, and the majority of micronutrient levels remained within the reference range.

© The Authors. Journal compilation © Mac Keith Press 2010.

Brain damage through excitotoxic mechanisms is a major cause of cerebral palsy in infants. This phenomenon usually occurs during the fetal period in human,and often leads to lifelong neurological morbidity with cognitive and sensorimotor impairment. However, there is currently no effective therapy. Significant recovery of brain function through neural stem cell implantation has been shown in several animal models of brain damage, but remains to be investigated in detail in neonates. In the present study, we evaluated the effect of cell therapy in a well-established neonatal mouse model of cerebral palsy induced by excitotoxicity (ibotenate treatment on postnatal day 5). Neurosphere-derived precursors (NDPs) or control cells (fibroblasts) were implanted into injured and control brains contralateral to the site of injury, and the fate of implanted cells was monitored by immunohistochemistry. Behavioral tests were performed in animals that received early (4 hrs after injury) or late (72 hrs after injury) cell implants. We show that NDPs implanted into the injured brains of 5 day-old pups migrated to the lesion site remained undifferentiated at day 10, differentiated into oligodendrocyte and neurons at day 42. Although grafted cells finally die there few weeks later, this procedure triggered a reduction in lesion size and an improvement in memory performance compared to untreated animals, both 2 weeks and 5 weeks after treatment. While further studies are warranted, cell therapy could be a future therapeutic strategy for neonates with acute excitotoxic brain injury.

ABSTRACT A multivariate model of determinants of change in gross-motor ability and engagement in self-care and play provides physical and occupational therapists a framework for decisions on interventions and supports for young children with cerebral palsy and their families. Aspects of the child, family ecology, and rehabilitation and community services may influence children’s activity and participation. Aspects of the child include primary and secondary impairments, associated and comorbid health conditions, and adaptive behaviors. Literature support for the model is reviewed. A clinical scenario illustrates the use of the model as a framework for practice. The model encourages therapists to broaden the focus of rehabilitation services for young children with CP to include not only development of motor abilities but also comprehensive interventions and supports to enhance participation in daily activities and routines. Therapists are encouraged to consider how child, family, and service factors interact when planning interventions and evaluating outcomes.