Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.

Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11.

Born in Brussels screening tool: the development of a screening tool measuring antenatal psychosocial vulnerability.

Background: Antenatal psychosocial vulnerability is a main concern in today's perinatal health care setting. Undetected psychosocially vulnerable pregnant women and their unborn child are at risk for unfavourable health outcomes such as poor birth outcomes or mental state. In order to detect potential risks and prevent worse outcomes, timely and accurate detection of antenatal psychosocial vulnerability is necessary.

Motor Skill Training May Restore Impaired Corticospinal Tract Fibers in Children With Cerebral Palsy.

. In children with unilateral cerebral palsy (UCP), the fibers of the corticospinal tract (CST) emerging from the lesioned hemisphere are damaged following the initial brain injury. The extent to which the integrity of these fibers is restorable with training is unknown.

Validation of a robot serious game assessment protocol for upper limb motor impairment in children with cerebral palsy.

Background: The ROBiGAME project aims to implement serious games on robots to rehabilitate upper limb (UL) motor function in children with cerebral palsy (CP). Serious game characteristics (target position, level of assistance/resistance, level of force) are typically adapted based on the child's assessment before and continuously during the game (measuring UL working area, kinematics and muscle strength).

Objective: This study developed an UL robotic motor assessment protocol to configure the serious game.

Development of a robotic upper limb assessment to configure a serious game.

BACKGROUNDROBiGAME project aims to implement serious games on robots to rehabilitate upper limb (UL) in stroke patients. The serious game characteristics (target position, level of assistance/resistance, level of force) are adapted based on the patient's assessment before and continuously during the game (measuring UL working area, kinematics and muscle strength).OBJECTIVETo develop an UL robotic motor assessment protocol to configure the serious game.

Interrater Reliability of Activity Questionnaires After an Intensive Motor-Skill Learning Intervention for Children With Cerebral Palsy.

Objective: To investigate the reliability of parents-reported activity questionnaires after a motor-skill learning intervention for children with cerebral palsy (CP). We hypothesize that the intervention process might influence parental judgment.

Design: Double-blind randomized trial.

Responsiveness of the ACTIVLIM-CP questionnaire: measuring global activity performance in children with cerebral palsy.

Aim: To investigate the responsiveness of the ACTIVLIM-CP questionnaire after two evidence-based interventions for children with cerebral palsy (CP).

Method: Seventy-five children with CP either participated in an intensive motor-skill learning intervention (hand-arm bimanual intensive therapy including lower extremities [HABIT-ILE], n=47) or received botulinum neurotoxin-A (BoNT-A) injection(s) into lower extremities combined with conventional physical therapy (n=28). All children were assessed three times: at baseline (T ; before HABIT-ILE/the day of BoNT-A injection), at T (last day of HABIT-ILE/6wks after BoNT-A injection), and at follow-up (T ; 3-4mo after the beginning of intervention).

Does observation of a disabled child's action moderate action execution? Implication for the use of Action Observation Therapy for patient rehabilitation.

Background: Research investigating action observation-execution priming has mainly manipulated congruent versus incongruent action, and aspects of action expertise/capability. More specifically, the literature suggests enhanced performance priming following action observation by actors closely matched to participant expertise. The aim of the present study was to extend the understanding of action expertise effects by investigating action priming in healthy participants after observing a mild hemiparetic child actor versus a neurologically healthy child actor.

ACTIVLIM-CP a new Rasch-built measure of global activity performance for children with cerebral palsy.

Objective: Children with cerebral palsy (CP) often have upper extremity (UE) and lower extremity (LE) impairments. While tools measuring separately UE and LE abilities are currently used, activities in which UE and LE are used in combination - numerous in everyday life - cannot be assessed because no instrument allows capturing global activity performance in children with CP. This study aimed to develop a clinical tool for measuring their global activity performance using the Rasch model.

Intensive upper- and lower-extremity training for children with bilateral cerebral palsy: a quasi-randomized trial.

Aim: An approach that simultaneously engages both the upper and lower extremities, hand-arm bimanual intensive therapy including lower extremity (HABIT-ILE), has recently demonstrated improvements in upper and lower extremities in children with unilateral cerebral palsy (CP). It is not known whether children with bilateral CP would benefit from this approach. The aim of this study was to examine the efficacy of HABIT-ILE in children with bilateral CP.

Mechanical work and energy consumption in children with cerebral palsy after single-event multilevel surgery.

Multilevel surgery is commonly performed to improve walking in children with cerebral palsy (CP). Classical gait analysis (kinetics, kinematics) demonstrated positive outcomes after this intervention, however it doesn't give global indication about gait's features. The assessment of energy cost and mechanical work of locomotion can provide an overall description of walking functionality.

Upper limb robot-assisted therapy in cerebral palsy: a single-blind randomized controlled trial.

Background: Several pilot studies have evoked interest in robot-assisted therapy (RAT) in children with cerebral palsy (CP).

Objective: To assess the effectiveness of RAT in children with CP through a single-blind randomized controlled trial.

Patients And Methods: Sixteen children with CP were randomized into 2 groups.

Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy.

Objectives: To monitor treatment effects in patients with congenital myopathies and congenital muscular dystrophies, valid outcome measures are necessary. The Motor Function Measure (MFM) was examined for robustness, and changes are proposed for better adequacy.

Design: Observational study based on data previously collected from several cohorts.

The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsy.

An interdisciplinary European group of clinical experts in the field of movement disorders and experienced Botulinum toxin users has updated the consensus for the use of Botulinum toxin in the treatment of children with cerebral palsy (CP). A problem-orientated approach was used focussing on both published and practice-based evidence. In part I of the consensus the authors have tabulated the supporting evidence to produce a concise but comprehensive information base, pooling data and experience from 36 institutions in 9 European countries which involves more than 10,000 patients and over 45,000 treatment sessions during a period of more than 280 treatment years.

Mechanical work, energetic cost, and gait efficiency in children with cerebral palsy.

Many authors have reported increased energy expenditure during walking in children with hemiplegia. The origin of this increase is not well documented. The aim of our study was to understand better the origin of this increased energy expenditure of walking in children with cerebral palsy (CP) by simultaneously assessing the total mechanical work performed by the muscles and the efficiency of the work production.

Influence of equinus treatments on the vertical displacement of the body's centre of mass in children with cerebral palsy.

We assessed the influence of equinus gait treatments on the vertical displacement of the body's centre of mass (COM) in 21 patients with cerebral palsy (14 males, 7 females; mean age 8 y 9 mo [SD 2 y]; range 3 y 7 mo-17 y) presenting different topographical types (quadriplegia, n = 1; diplegia, n = 6; right hemiplegia, n = 6; and left hemiplegia, n = 8). Vertical COM displacement was computed from ground reaction forces, and lower limb kinematics was recorded simultaneously. Equinus gait was treated with non-operative treatments (i.

ABILHAND-Kids: a measure of manual ability in children with cerebral palsy.

Objective: To develop a clinical tool for measuring manual ability (ABILHAND-Kids) in children with cerebral palsy (CP) using the Rasch measurement model.

Methods: The authors developed a 74-item questionnaire based on existing scales and experts' advice. The questionnaire was submitted to 113 children with CP (59% boys; mean age, 10 years) without major intellectual deficits (IQ > 60) and to their parents, and resubmitted to both groups after 1 month.