BACKGROUND: Infants born very preterm are at higher risk of long-term neurodevelopmental problems than children born at term. Although there are increasing numbers of reports on outcomes from international cohorts of premature infants, a Swiss national report on infants after 2 years of age is lacking. AIMS OF THE STUDY: To describe neurodevelopmental outcomes at early school age of preterm children born in Switzerland with a special focus on the cognitive abilities. METHODS: This prospective national cohort study included children born alive before 30 weeks of gestation in 2006. At 5 years of age, children underwent a neurological examination and intelligence testing with the Kaufman Assessment Battery for Children first edition (K-ABC). We assessed the mental processing composite score (MPC) and its subscales to explore specific cognitive deficits. The primary outcome was cognitive impairment (MPC score <-1 standard deviation from the normative mean), motor impairment (cerebral palsy), or sensory impairment (any visual or hearing deficiency). The need for early intervention or therapies and the association of perinatal factors with cognitive impairment were secondary and tertiary outcomes. Logistic regression models were used to analyse associations between neonatal factors and cognitive outcome. RESULTS: Of 289 survivors, 235 were assessed. Of the 199 children with results obtained from the K-ABC, 42 (21%) showed cognitive impairment and 80 (40%) showed impairment in short-term memory. Cerebral palsy was diagnosed in 14 (6%), and visual and auditory impairment in 36 (15%) and 12 (5%) children, respectively; 63 (27%) needed early intervention or therapies. Cognitive impairment was associated with low socioeconomic status, but not with gestational age, small birthweight for gestational age, bronchodysplasia, or significant brain injury. A total of 146 children (63%) survived without any impairment. CONCLUSION: This is the first study to report neurodevelopmental outcomes at early school age in a Swiss cohort. The majority had favourable outcomes, but 21% of children demonstrated cognitive impairment, which was most pronounced in short-term memory. Our findings were similar to those of international cohorts and indicate that preterm children born before 30(0/7) gestational weeks, especially those living in unfavourable social environments, are at an increased risk of cognitive impairment and need close monitoring beyond early school age.

ObjectivesTo investigate if centre-specific levels of perinatal interventional activity were associated with neonatal and neurodevelopmental outcome at 2 years of age in two separately analysed cohorts of infants: cohort A born at 22–25 and cohort B born at 26–27 gestational weeks, respectively.DesignGeographically defined, retrospective cohort study.SettingAll nine level III perinatal centres (neonatal intensive care units and affiliated obstetrical services) in Switzerland.PatientsAll live-born infants in Switzerland in 2006–2013 below 28 gestational weeks, excluding infants with major congenital malformation.Outcome measuresOutcomes at 2 years corrected for prematurity were mortality, survival with any major neonatal morbidity and with severe-to-moderate neurodevelopmental impairment (NDI).ResultsCohort A associated birth in a centre with high perinatal activity with low mortality adjusted OR (aOR 0.22; 95% CI 0.16 to 0.32), while no association was observed with survival with major morbidity (aOR 0.74; 95% CI 0.46 to 1.19) and with NDI (aOR 0.97; 95% CI 0.46 to 2.02). Median age at death (8 vs 4 days) and length of stay (100 vs 73 days) were higher in high than in low activity centres. The results for cohort B mirrored those for cohort A.ConclusionsCentres with high perinatal activity in Switzerland have a significantly lower risk for mortality while having comparable outcomes among survivors. This confirms the results of other studies but in a geographically defined area applying a more restrictive approach to initiation of perinatal intensive care than previous studies. The study adds that infants up to 28 weeks benefited from a higher perinatal activity and why further research is required to better estimate the added burden on children who ultimately do not survive.

Objective: Vitamin D is essential in bone and muscle health. Vitamin D deficiency is a global health problem and diagnosis should not be missed, especially with the increasing migration of children from less developed countries with insufficient vitamin D prophylaxis. Severe vitamin D deficiency typically causes rickets in children, but may also present with myalgia and muscle weakness. Vitamin D deficiency must be considered in the differential diagnosis of myopathic disease. Case report: We report six female patients who were finally diagnosed with severe vitamin D deficiency induced myopathy. First symptoms were muscle pain, especially of lower extremities, increasing on exertion at the age of 4–16 years. Clinical findings included mild proximal muscle weakness and gait abnormalities with difficulties running and climbing stairs. Three patients underwent extended negative diagnostic investigations for a neuromuscular disorder. 25- hydroxy vitamin D levels were markedly decreased in all patients, in three patients Creatine kinase was mildly elevated in addition. One patient fullfilled criteria for rickets in addition, in one secondary hyperparathyroidism was present. With the diagnosis of severe vitamin D deficiency all patients were treated with high doses of Vitamin D. Initial symptoms improved rapidly after a few weeks of treatment and clinical findings were completely reversible. 25- hydroxy vitamin D levels returned to normal values or increased markedly with treatment. All patients are still supplemented with vitamin D. Conclusion: Vitamin D deficiency can present with significant muscle impairment, mimicing neuromuscular disease. In the differential diagnosis of myopathies, vitamin D deficiency must be taken into consideration. Diagnosis and treatment are simple, and extensive investigations might be avoided.

Aim: Neonatal arterial ischemic stroke (NAIS) is associated with considerable morbidity. It can be assumed, that the long-term burden of NAIS is associated with reduced health-related quality of life (QoL).The objective is to assess health-related QoL in children who were diagnosed with NAIS 5 years after the acute event and to compare the results to age- and sex-adjusted normative data.

Target population High-risk newborns in the context of these guidelines are children who were born very preterm (before 32 weeks gestational age) or children who developed a ypoxic ischaemic encephalopathy (Sarnat grade 2–3) during the first hours of life.

Children after pediatric arterial ischemic stroke (AIS) are known to suffer from neurological and neuropsychological impairments but limited data is available concerning quality of life (QoL) outcome. The aim of this present study is to examine long-term effects on QoL in a population-based AIS sample from Switzerland. Children registered in the Swiss Neuropaediatric Stroke Registry (SNPSR) and suffering an AIS during the years 2000–2008 were included. Five years after stroke, children and parents rated QoL with the Kidscreen-27 (Physical Wellbeing, Psychological Wellbeing, Parents/Autonomy, Social Support, and School Environment). QoL and subdomains were related to age at stroke, gender, post-stroke cognitive abilities, socio economic status of parents, and lesion characteristics. Concerning the children’s rating, of sixty-nine children (29% female; age at stroke 12.02 years, range: 5–21) only 2.9% reported overall QoL below average. There was no significant correlation between QoL and age at stroke or sex, females had a tendency to report lower QoL. Children with combined lesions (cortical and subcortical) had lower overall QoL. Children with left sided lesions had a tendency of lower QoL. Mann–Whitney U comparison of means showed IQ to be independent of QoL. Altogether, children rated social support as the most impaired subdomain. The parent’s QoL ratings correlated with those of their children (Pearson r = .539, p = .000) but was lower than those of the children, reaching significance in some domains. QoL of children after AIS in general is not or mildly disturbed, but parents feel more problems for their children. Social support was for children and parents the most disturbed domain, pointing to marked problems with peers. Combined cerebral lesions were the only significant effect on QoL. These results point to the fact that despite of neurological and neuropsychological problems, these children are well integrated in society, which might be an effect of adequate support by parents, teachers and/or therapeutic interventions.

Aim: To report an unusual presentation explained by a dual pathology of a congenital myopathy and neurofibromatosis type 1 (NF 1).

Background: Cavernous malformations (CM) of the central nervous system are vascular malformations responsible for symptoms such as seizures, headache, and neurological deficits: 25% of cases already present in childhood.Material and methods: Retrospective study including all CMs of the central nervous system in childhood diagnosed in the period 1993-2008 in 3 paediatric hospitals in Switzerland, focusing on clinical manifestations, neuroimaging findings, treatment, and outcome.Results: 20 children (13 females) were diagnosed with CM, with an average age at presentation of 8.5 years (range 7 months-16 years). 17/20 presented with acute haemorrhage, 9/17 with seizures, 5/17 with focal neurological symptoms, and 3/17 with severe headache only. Localisation was supratentorial in 15/20, infratentorial in 2/20, supra- and infratentorial in 2/20, and spinal in 1 child. Five children had multiple CMs. Treatment was conservative in 10 cases and surgery was indicated in 10: for acute haemorrhage in 5; recurrent bleeding in 3; and epilepsy in 2. Follow-up after diagnosis was 0.5 years-10 years (mean 4 years), revealing neurological sequelae in 6 patients. The CM increased in size in 2 cases with an increase in number also in 1 of these.Conclusions: We confirm that CMs in childhood mainly present with seizures, severe headache, or focal symptoms due to acute haemorrhage. During infancy they may appear as dynamic lesions increasing in size and/or number. The regular application of newer neuroimaging techniques such as susceptibility weighted imaging will detect more lesions but not necessarily resolve problems concerning optimum treatment. (C) 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD.