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Aim: To investigate how the aetiology of very preterm birth/very low birth weight is associated with mortality and later neurodevelopmental outcomes. Methods: Very preterm/very low‐birth weight singletons were categorised based on the aetiology of preterm birth: spontaneous preterm birth (n = 47, 28.1%), preterm premature rupture of membranes (n = 56, 33.5%) or placental vascular pathology (n = 64, 38.3%). Mortality, cerebral palsy, severe cognitive impairment by 11 years of age (<2SD) and mean full‐scale intelligence quotient at 11 years were studied in association with birth aetiology. Results: There was no difference in mortality or rate of cerebral palsy according to birth aetiologies. The rate of severe cognitive impairment was lower (4.9% vs. 15.3%) in the preterm premature rupture of the membrane group in comparison to the placental vascular pathology group (OR 0.2, 95% CI 0.03–0.9, adjusted for gestational age). At 11 years, there was no statistically significant difference in the mean full‐scale intelligence quotient. Conclusion: Placental vascular pathology, as the aetiology of very preterm birth/very low birth weight, is associated with a higher rate of severe cognitive impairments in comparison to preterm premature rupture of membranes, although there was no difference in the mean full‐scale intelligence quotient at 11 years. The aetiology of very preterm birth/very low birth weight was not associated with mortality or the rate of cerebral palsy. [ABSTRACT FROM AUTHOR]

Background: Preterm infants have a risk of health and developmental problems emerging after discharge. This indicates the need for a comprehensive follow-up to enable early identification of these problems. In this paper, we introduce a follow-up tool "ePIPARI – web-based follow-up for preterm infants". Our future aim is to investigate whether ePIPARI is a feasible tool in the follow-up of preterm infants and whether it can identify children and parents in need of clinical interventions. Methods: ePIPARI includes eight assessment points (at term age and at 1, 2, 4, 8, 12, 18, and 24 months of corrected age) when the child´s health and growth, eating and feeding, neurodevelopment, and parental well-being are evaluated. ePIPARI consists of several widely used, standardized questionnaires, in addition to questions typically presented to parents in clinical follow-up visits. It also provides video guidance and written information about age-appropriate neurodevelopment for the parents. Parents of children born before 34 weeks of gestation during years 2019–2022 are being invited to participate in the ePIPARI study, in which web-based follow-up with ePIPARI is compared to clinical follow-up. In addition, the parents of children born before 32 weeks of gestation, who reached the corrected age of two years during 2019–2021 were invited to participate for the assessment point of 24 months of ePIPARI. The parents are asked to fill in the online questionnaires two weeks prior to each clinical follow-up visit. Discussion: The web-based tool, ePIPARI, was developed to acquire a sensitive and specific tool to detect infants and parents in need of further support and clinical interventions. This tool could allow individualized adjustments of the frequency and content of the clinical visits. Trial registration: ClinicalTrials.cov, NCT05238168. Registered 11 April 2022 – Retrospectively registered. [ABSTRACT FROM AUTHOR]

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy., Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician., Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike-wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype-phenotype relationship even between individuals with the same DLG4 variants., Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requires proper investigation with sleep EEG., (© 2023 International League Against Epilepsy.)