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Abstract Body

Duchenne muscular dystrophy (DMD) is a major cause of severe, progressive muscle dysfunction in children, affecting approximately 1:4500 born boys. Until recently, therapeutic interventions recommended in care guidelines have relied fully on supportive measures and corticosteroids. Following the discovery in 1987 of the dystrophin gene as the disease causing gene in DMD, located on the X chromosome, multiple efforts to increase dystrophin levels in the diseased muscle have now resulted in novel medical therapies that have been approved or are presently under investigation. This includes primarily therapies to overcome nonsense mutations, exon skipping, and gene therapies. Other important novel therapies in the pipeline aim at obtaining immune modulation with less side effects than with the presently used corticosteroids, a potentially very important goal considering the extreme burden of accumulated dose of corticosteroids used over time for treating individuals with DMD. Yet other therapies aim at improving mitochondrial function, reducing fibrosis, or increasing muscle growth. The arrival of new therapies coming into use for treating DMD have implications also for diagnosis. DMD is a progressive disease, and treatment effect is expected to result in better results in introduced early. This necessitates an increased awareness of early signs of DMD in order to avoid the still common delay in diagnosis.

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Background and aims

Very preterm (VP) and very low birth weight (VLBW) children are at high risk for cognitive and mathematic difficulties. These difficulties are associated with poor educational attainment and unemployment in adulthood. There is uncertainty whether specific problems in mathematics may explain adult outcomes, over and above the effects of general cognitive problems.

Methods

We harmonised data from six VP/VLBW birth cohort studies of five different countries (Cleveland, BLS, VICS, McMaster, EPICure, Rhode Island) and carried out 1-stage individual participant data (IPD) meta-analyses (N=954). We included neonatal information, maternal education, and IQ and mathematics test scores between 8 and 11 years of age, standardised according to study-specific term-born/normal birthweight controls (Table 1). Dependent variables were having attended college (yes/no) and being employed or in education in young adulthood (yes/no).

Results

Mixed effects logistic regression showed significant heterogeneity between study cohorts. Adults born preterm with higher childhood IQ (Odds Ratio (OR)=1.58 [95% Confidence Interval (CI)=1.26, 1.97]) and mathematics test scores (OR=1.36 [1.05, 1.77]) were more likely to have attended college, as were females (OR=2.00 [1.44, 2.79]) and participants with higher educated mothers (OR=1.30 [1.10, 1.54]. Likewise, adults born preterm with higher childhood IQ were more likely to be employed or in education (OR=1.29 [1.04, 1.60]), but there was no additional effect of mathematics (OR=1.15 [0.95, 1.40], see Figure 1).

Conclusions

Functional indicators such as preterm children’s cognitive and mathematic abilities are important for life-course educational attainment, whereas IQ may matter more than maths when it comes to later employment.

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AIM To provide a comprehensive update on the most prevalent, significant risk factors for neonatal brachial plexus palsy (NBPP).

METHOD Cochrane CENTRAL, MEDLINE, Web of Science, Embase, and ClinicalTrials.gov were searched for relevant publications up to March 2019. Studies assessing risk factors of NBPP in relation to typically developing comparison individuals were included. Meta-analysis was performed for the five most significant risk factors, on the basis of the PRISMA statement and MOOSE guidelines. Pooled odds ratios (ORs), 95% confidence intervals (CIs),and across-study heterogeneity (I2) were reported. Reporting bias and quality of evidence was rated. In addition, we assessed the incidence of NBPP.

RESULTS Twenty-two observational studies with a total sample size of 29 419 037 live births were selected. Significant risk factors included shoulder dystocia (OR 115.27; 95% CI 81.35–163.35; I2=92%), macrosomia (OR 9.75; 95% CI 8.29–11.46; I2=70%), (gestational) diabetes (OR5.33; 95% CI 3.77–7.55; I2=59%), instrumental delivery (OR 3.8; 95% CI 2.77–5.23; I2=77%), and breech delivery (OR 2.49; 95% CI 1.67–3.7; I2=70%). Caesarean section appeared as a protective factor (OR 0.13; 95% CI 0.11–0.16; I2=41%). The pooled overall incidence of NBPP was 1.74 per 1000 live births. It has decreased in recent years.

INTERPRETATION The incidence of NBPP is decreasing. Shoulder dystocia, macrosomia,maternal diabetes, instrumental delivery, and breech delivery are risk factors for NBPP. Caesarean section appears as a protective factor.

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Background: Multiple Sclerosis (MS) is a Central Nervous System’s auto-immune disease. Although more frequent in adults, 3–5% of the patients have a disease onset before the age of 18. MS’ presentation with simple focal neurologic symptoms is more common in adolescents than younger children.

Aim: Describe two different clinical presentations of MS in adolescents.

Case Report/ Results: We report a 15-year-old girl, with frontal headache with 1 month of evolution, more intense on her right side and in the morning, with photophobia and blurred vision. She had family history of MS. A bilateral horizontal nistagmus was observed. MRI showed periventricular and infra-tentorial non-enhancing and enhancing lesions with hyperintensity in T2-sequences.

We also report a 16-year-old male, admitted for a tingling sensation in his feet since the day before, which evolved with loss of sensation up to his navel line and a decreased sensitivity when urinating and defecating. On examination, a sensitive level was present at D10, with normal thermal sensitivity and proprioception. On MRI, periventricular, spinal bulb and spinal cord lesions consistent with MS were noted.

Both patients had oligoclonal bands in CSF and met the 2017 McDonald criteria for MS diagnosis. A 5 day-course of methylprednisolone was performed in both, with symptoms’ improvement.

Conclusions: Pediatric MS’ diagnosis is challenging. Due to its particularities, MS’ presentation during adolescence can make its diagnosis even more difficult. With these case reports we emphasize the need for a high degree of suspicion, especially in the presence of mild focal neurological symptoms.