Development and Adaptive Function in Individuals With -Related Disorders.

Background And Objectives: Developmental impairment is common in individuals with -related disorders, although descriptions are limited. We aimed to determine trajectories and outcomes of development and adaptive function.

Methods: This was a mixed retrospective cross-sectional study of individuals from an international Natural History Study, who had neurologic/neurodevelopmental disorders due to an variant.

Understanding factors that influence goal setting in rehabilitation for paediatric acquired brain injury: a qualitative study using the Theoretical Domains Framework.

Background While goal setting with children and their families is considered best practice during rehabilitation following acquired brain injury, its successful implementation in an interdisciplinary team is not straightforward. This paper describes the application of a theoretical framework to understand factors influencing goal setting with children and their families in a large interdisciplinary rehabilitation team. Methods A semi-structured focus group was conducted with rehabilitation clinicians and those with lived experience of paediatric acquired brain injury (ABI).

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.

In SCN2A-related disorders, there is an urgent demand to establish efficient methods for determining the gain- (GoF) or loss-of-function (LoF) character of variants, to identify suitable candidates for precision therapies. Here we classify clinical phenotypes of 179 individuals with 38 recurrent SCN2A variants as early-infantile or later-onset epilepsy, or intellectual disability/autism spectrum disorder (ID/ASD) and assess the functional impact of 13 variants using dynamic action potential clamp (DAPC) and voltage clamp. Results show that 36/38 variants are associated with only one phenotypic group (30 early-infantile, 5 later-onset, 1 ID/ASD).

Epidemiology of paediatric chronic fatigue syndrome in Australia.

Objective: To estimate the paediatrician-diagnosed incidence of chronic fatigue syndrome (CFS) in Australia, and describe demographic and clinical features, as well as approaches to diagnosis and management.

Methods: The Australian Paediatric Surveillance Unit facilitates monthly national surveillance of uncommon conditions seen by paediatricians. Data from young people aged <18 years diagnosed with CFS were collected.

The Gait Outcomes Assessment List (GOAL): validation of a new assessment of gait function for children with cerebral palsy.

Aim: We investigated the validity of the Gait Outcomes Assessment List (GOAL), as an assessment of gait function in children with cerebral palsy (CP).

Method: We studied a prospective cohort of 105 children with CP (Gross Motor Function Classification System [GMFCS] levels I-III; 65 males, 40 females; mean [SD] age 11y 11mo [3y 5mo], range 6-20y), who attended gait assessment over a 10-month period. Parents completed the GOAL, Functional Mobility Scale (FMS), and Functional Assessment Questionnaire (FAQ) during their child's gait evaluation.

Sagittal gait patterns in cerebral palsy: the plantarflexor-knee extension couple index.

The identification of gait patterns in cerebral palsy offers a common language for clinicians and contributes to management algorithms. We describe a quantitative classification of sagittal gait patterns based on the plantarflexor-knee extension couple index. This consists of a scatter plot based on ankle and knee scores, and allows objective identification of the sagittal gait pattern.

Multilevel surgery for equinus gait in children with spastic diplegic cerebral palsy: medium-term follow-up with gait analysis.

Background: In children with spastic diplegia, surgery for ankle equinus contracture is associated with a high prevalence of both overcorrection, which may result in a calcaneal deformity and crouch gait, and recurrent equinus contracture, which may require revision surgery. We sought to determine if conservative surgery for equinus gait, in the context of multilevel surgery, could result in the avoidance of overcorrection and crouch gait as well as an acceptable rate of recurrent equinus contracture at the time of medium-term follow-up.

Methods: This was a retrospective, consecutive cohort study of children with spastic diplegia who had had surgery for equinus gait between 1996 and 2006.

Management of children with ambulatory cerebral palsy: an evidence-based review. Commentary by Hugh Williamson Gait Laboratory staff.

The evaluation of complex interventions, such as Single Event Multilevel Surgery (SEMLS) requires more than randomized controlled trials. Rehabilitation following SEMLS is prolonged and the outcomes of interest may not be apparent for 5 years or more after the surgery. We suggest long term, prospective cohort studies with objective outcome measures be recognized as of equal importance to randomized controlled trials.

The use of videoconferencing to enhance interprofessional clinical education for allied health students.

The Health-e-Learning project investigated the use of videoconferencing to deliver interprofessional clinical education to allied health students. Via a broadband link, students observed DVD footage of a clinical session then participated in discussion with the clinicians at the Royal Children's Hospital (RCH), Melbourne. The videoconference sessions were evaluated with respect to session content, the effectiveness of videoconferencing in providing interprofessional education (IPE) and the satisfaction with this as a supplement to facility-based placements.

Progressive gait deterioration in adolescents with Dravet syndrome.

Objective: To characterize changes in gait by age in patients with Dravet syndrome.

Design: Prospective, cross-sectional study.

Setting: Tertiary children's hospital.

The minimal clinically important difference for the Gait Profile Score.

The minimally clinically important difference (MCID) is an important concept for interpreting the results of clinical research. This paper proposes a rationale for defining an MCID for the Gait Profile Score (GPS) based on an analysis of the difference in median GPS for children classified at different levels of the Functional Assessment Questionnaire. A strong linear correlation between median score and FAQ level was found.

Management of the knee in spastic diplegia: what is the dose?

This article discusses the sagittal gait patterns in children with spastic diplegia, with an emphasis on the knee, as well as the concept of the "dose" of surgery that is required to correct different gait pathologies. The authors list the various interventions in the order of their increasing dose. The concept of dose is useful in the consideration of the management of knee dysfunction.

The static examination of children and young adults with cerebral palsy in the gait analysis laboratory: technique and observer agreement.

The assessment of ambulant children with spastic cerebral palsy frequently includes an evaluation in the motion analysis laboratory, consisting of a standardized physical examination and instrumented gait analysis. We therefore designed a repeatability study to evaluate observer agreement of five joint range of motion parameters, in 20 patients with cerebral palsy aged 5-25 years. These five parameters are some of the most important measurements made during the static examination in the gait laboratory.