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. PIK3CA and PIK3R1, part of the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM-like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in PIK3CA and PIK3R1, as well as GNAQ and GNA11, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the AKT3 gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the AKT3 variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype-phenotype correlation studies in guiding clinicians' informed decision-making regarding patient care.

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. Therefore, this paper aims to develop a screening tool 'the Born in Brussels Screening Tool (ST)' aimed at detecting antenatal psychosocial vulnerability. METHODS: The Born in Brussels ST was developed based on a literature search of existing screening tools measuring antenatal psychosocial vulnerability. Indicators and items (i.e. questions) were evaluated and selected. The assigned points for the answer options were determined based on a survey sent out to caregivers experienced in antenatal (psychosocial) vulnerability. Further refinement of the tool's content and the assigned points was based on expert panels' advice. RESULTS: The Born in Brussels ST consists of 22 items that focus on 13 indicators: communication, place of birth, residence status, education, occupational status, partner's occupation, financial situation, housing situation, social support, depression, anxiety, substance use and domestic violence. Based on the 168 caregivers who participated in the survey, assigned points account between 0,5 and 4. Threshold scores of each indicator were associated with adapted care paths. CONCLUSION: Generalied and accurate detection of antenatal psychosocial vulnerability is needed. The brief and practical oriented Born in Brussels ST is a first step that can lead to an adequate and adapted care pathway for vulnerable pregnant women.

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. Therefore, we propose to describe the effects of multilevel surgery in children with CP, considering energetics, mechanical work, kinetic and kinematic of walking. We measured external, internal, total work, energy cost, recovery, efficiency, kinetic and kinematic of walking in 10 children with CP (4 girls, 6 boys; 13 years ± 2) before and 1 year after multilevel surgery. Kinetic and kinematic results are partially comparable to previous findings, energy cost of walking is significantly reduced (p < 0.05); external, internal, total work, recovery, efficiency are not significantly different (p = 0.129; p = 0.147; p = 0.795; p = 0.119; p = 0.21). The improvement of the walking's energy consumption is not accompanied by a corresponding improvement of mechanical work. Therefore it is conceivable that the improvement of walking economy depend on a reduced effort of the muscle to maintain the posture, rather then to an improvement of the mechanism of energy recovery typical of human locomotion.