Anette Ramm-Pettersen

• Haavardsholm, Kathrine; Zamani, Mahtab; Skjelland, Mona Elisabeth; Ramm-Pettersen, Anette & Skagen, Karolina Ryeng (2025). Carotid intima-media thickness may be an early biomarker for cardiovascular risk in patients treated with ketogenic dietary therapy. Epilepsia Open. 10(6), s. 1860–1870. doi: 10.1002/epi4.70152. Fulltekst i vitenarkiv
• Gunnarsdottir, Gunnþórunn; Rossholt, Madelaine; Nordvik, Tone; Wendel, Kristina; Aas, Marlen Fossan & Skarbø, Anne-Britt [Vis alle 11 forfattere av denne artikkelen] (2025). High dose arachidonic and docosahexaenoic acid in very preterm infants and neurodevelopment at 2 years - A double-blind randomized controlled trial. Clinical Nutrition. ISSN 0261-5614. 51, s. 198–205. doi: 10.1016/j.clnu.2025.05.019. Fulltekst i vitenarkiv Vis sammendrag

  Background and aims The fatty acids arachidonic acid (ARA) and docosahexaenoic acid (DHA) accumulate in neural tissue in the last trimester, thus preterm infants have lower levels compared to their term-born peers. Our aim was to evaluate the impact of ARA and DHA supplementation in very preterm infants on neurodevelopmental outcomes at two years corrected age (CA). We also wanted to study the effect of in-hospital growth, socioeconomic factors and other possible covariates on neurodevelopmental outcomes for the entire study population. Methods This is a follow-up study of the ImNuT-trial (NCT03555019); a randomized controlled trial (RCT), where 120 infants born before 29 weeks of gestational age (GA) were randomized to receive an enteral supplement of both ARA and DHA (ARA:DHA group) or medium chain triglycerides (control group). The infants received supplementation from the second day of life until 36 weeks postmenstrual age (PMA). At two years CA, the children underwent neurodevelopmental assessment using Bayley Scales of Infant and Toddler Development, third edition (BSID-III) and Peabody Developmental Motor Scales second edition (PDMS-2). Results Mean (SD) GA at birth was 26.4 (1.7) weeks. The mean (SD) corrected age at follow-up was 24 months + 7 days (17 days). There were no significant differences in neurodevelopmental outcomes between the treatment groups. The multivariable regression model showed a positive association between female sex and motor scores as well as maternal education level and language scores. Faster linear growth from day 28–36 weeks PMA was associated with higher cognitive scores. Non-Scandinavian family language was negatively associated with all three BSID-scores. Conclusion Supplementation with ARA and DHA in very preterm children did not result in significant differences in neurodevelopmental outcomes assessed with BSID-III and PDMS-2 at 2 years corrected age. Higher maternal education level, female sex, faster linear growth during hospitalization and Scandinavian family language were predictive of neurodevelopmental outcome.

• Follin, Louise Frøstrup; Zahid, Alexander Neergaard; Viste, Rannveig; Vevelstad, Janita; Kaufmann, Tobias Herbert & Ramm-Pettersen, Anette [Vis alle 10 forfattere av denne artikkelen] (2025). An inter-rater variability study between human and automatic scorers in 5-s mini-epochs of sleep. Sleep Medicine. ISSN 1389-9457. 128, s. 139–150. doi: 10.1016/j.sleep.2025.02.005. Fulltekst i vitenarkiv Vis sammendrag

  Study objective Sleep is traditionally scored using 30-s epochs of polysomnographies. As sleep is physiologically dynamic and 30-s epochs may conceal important characteristics, we aim to challenge this standard by scoring sleep in 5-s mini-epochs and analyzing inter-rater variability between human and automatic scorers. Methods In 40 polysomnography recordings, 120 mini-epochs per polysomnography were scored manually by three human experts (expert1_5s, expert2_5s and expert3_5s) and automatically by a validated sleep classifier (USleep_5s). Additionally, 5-s mini-epochs (clinical_5s) extracted from conventional human-scored 30-s epochs were considered. We assessed inter-rater variability and stage shifting in epochs and mini-epochs and further in narcolepsy type 1 (NT1) patients and siblings. Results Agreement for mini-epochs was κ = 0.50 ± 0.11 (expert1_5s vs clinical_5s) and κ = 0.51 ± 0.12, (expert1_5s vs USleep_5s). Between human experts, agreement was κ = 0.51 ± 0.16 (expert1_5s vs expert2_5s), and κ = 0.57 ± 0.11 (expert1_5s vs expert3_5s). Stage shift percentages were significantly higher in mini-epochs scored by expert1_5s (27.75 %) and USleep_5s (22.88 %) than corresponding conventional epochs (5.12 %), with no significant difference between NT1 patients and siblings. Conclusion While mini-epoch scoring agreement was generally high, it was still lower than within epochs, likely due to a lack of standard mini-epoch scoring procedure and the automatic classifier being trained on epochs. However, stage discrepancies between epochs and mini-epochs and increased stage shifting in mini-epochs support that epochs can contain several stages, and that mini-epochs could supplement more detailed sleep characterization potentially enabling more precise diagnosis and finding new polysomnographic biomarkers. Future studies should include larger datasets to refine mini-epoch scoring rules and exploit automatic classifiers e.g. via transfer learning.

• Wik-Klokk, Merete; Rasmussen, Magnhild; Ørstavik, Kristin; Zetterberg, Henrik; Hagen, Milada & Holtebekk, Elisabeth [Vis alle 8 forfattere av denne artikkelen] (2024). Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up. European journal of paediatric neurology. ISSN 1090-3798. 53, s. 109–116. doi: 10.1016/j.ejpn.2024.09.009. Fulltekst i vitenarkiv Vis sammendrag

  Background: New treatments for 5q spinal muscular atrophy (SMA) have led to changes in the disease phenotype. Questions about long-term efficacy, however, persist. We present the results from five-year follow-up of the first ten Norwegian patients with SMA type1 treated with nusinersen. Methods: – Ten patients referred to the expanded access program were included. Standardized assessments with Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), the Hammersmith Infant Neurological Examination (HINE-2), compound muscle action potential (CMAP) examination and cerebrospinal fluid analysis of neurofilament light chain (cNfL) were performed. Result: Age at baseline ranged from three months to 11 years and eight months. Nine patients were alive and continued to receive treatment at 62 months of follow-up. CHOP INTEND scores increased significantly up to 38 months. Any further increase from 38 to 50 months was not statistically significant, and scores remained almost unchanged from 50 to 62 months. HINE-2 scores increased but the difference from baseline never reached statistical significance. The youngest patients showed the best motor outcome. The changes in CMAP scores were not statistically significant. cNfL values were significantly reduced after 18 months compared with baseline; the largest difference occurred between baseline and 6 months. There was a significant negative correlation between log cNfL and CHOP INTEND (p = 0.042). Bulbar and respiratory function did not improve during the observation period. Conclusion: Our findings support previously reported results on efficacy and safety of nusinersen. All patients have shown improvement in motor function. The need of respiratory and nutritional support did not improve.

• Stenshorne, Ida; Syvertsen, Marte Roa; Ramm-Pettersen, Anette; Selmer, Kaja Kristine; Koht, Jeanette & Henriksen, Mari Wold (2024). Impact of genetic testing in developmental and epileptic encephalopathy– parents’ perspective. Epilepsy & Behavior. ISSN 1525-5050. 163. doi: 10.1016/j.yebeh.2024.110174. Fulltekst i vitenarkiv
• Stenshorne, Ida; Syvertsen, Marte Roa; Ramm-Pettersen, Anette; Henning, Susanne; Weatherup, Elisabeth & Bjørnstad, Alf [Vis alle 10 forfattere av denne artikkelen] (2022). Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway. Frontiers in Pediatrics. 10, s. 1–13. doi: 10.3389/fped.2022.965282. Fulltekst i vitenarkiv Vis sammendrag

  Introduction Developmental and epileptic encephalopathies (DEE) is a group of epilepsies where the epileptic activity, seizures and the underlying neurobiology contributes to cognitive and behavioral impairments. Uncovering the causes of DEE is important in order to develop guidelines for treatment and follow-up. The aim of the present study was to describe the clinical picture and to identify genetic causes in a patient cohort with DEE without known etiology, from a Norwegian regional hospital. Methods Systematic searches of medical records were performed at Drammen Hospital, Vestre Viken Health Trust, to identify patients with epilepsy in the period 1999–2018. Medical records were reviewed to identify patients with DEE of unknown cause. In 2018, patients were also recruited consecutively from treating physicians. All patients underwent thorough clinical evaluation and updated genetic diagnostic analyses. Results Fifty-five of 2,225 patients with epilepsy had DEE of unknown etiology. Disease-causing genetic variants were found in 15/33 (45%) included patients. Three had potentially treatable metabolic disorders ( SLC2A1, COQ4 and SLC6A8 ). Developmental comorbidity was higher in the group with a genetic diagnosis, compared to those who remained undiagnosed. Five novel variants in known genes were found, and the patient phenotypes are described. Conclusion The results from this study illustrate the importance of performing updated genetic investigations and/or analyses in patients with DEE of unknown etiology. A genetic cause was identified in 45% of the patients, and three of these patients had potentially treatable conditions where available targeted therapy may improve patient outcome.

• Pedersen, Sigrid; Bliksrud, Yngve Thomas; Selmer, Kaja Kristine & Ramm-Pettersen, Anette (2019). Pyruvatdehydrogenase-mangel. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 139(15). doi: 10.4045/tidsskr.18.0988. Fulltekst i vitenarkiv
• Kverneland, Magnhild; Molteberg, Ellen; Haavardsholm, Kathrine Cammermeyer; Pedersen, Sigrid; Ramm-Pettersen, Anette & Nakken, Karl Otto (2017). Diettbehandling av epilepsi. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 137(16). doi: 10.4045/tidsskr.16.0486. Fulltekst i vitenarkiv
• Ramm-Pettersen, Anette; Nakken, Karl Otto; Haavardsholm, Kathrine Cammermeyer & Selmer, Kaja Kristine (2017). GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype. Epilepsy & Behavior. ISSN 1525-5050. 70(Part A), s. 1–4. doi: 10.1016/j.yebeh.2017.02.016. Fulltekst i vitenarkiv
• Ramm-Pettersen, Anette; Stabell, Kirsten E.; Nakken, Karl Otto & Selmer, Kaja Kristine (2014). Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study. Epilepsy & Behavior. ISSN 1525-5050. 39, s. 111–115. doi: 10.1016/j.yebeh.2014.08.015. Fulltekst i vitenarkiv
• Ramm-Pettersen, Anette; Nakken, Karl Otto; Haavardsholm, Kathrine Cammermeyer & Selmer, Kaja Kristine (2014). Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet. Epilepsy & Behavior. ISSN 1525-5050. 32, s. 76–78. doi: 10.1016/j.yebeh.2014.01.003. Fulltekst i vitenarkiv
• Ramm-Pettersen, Anette; Nakken, Karl Otto; Skogseid, Inger Marie; Randby, Hans; Skei, Erik Borge & Bindoff, Laurence [Vis alle 7 forfattere av denne artikkelen] (2013). Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. Developmental Medicine & Child Neurology. ISSN 0012-1622. 55(5), s. 440–447. doi: 10.1111/dmcn.12096. Fulltekst i vitenarkiv
• Nakken, Karl Otto; Kostov, Hrisimir; Ramm-Pettersen, Anette; Heminghyt, Einar; Bakke, Jacob & Nedregaard, Bård [Vis alle 7 forfattere av denne artikkelen] (2012). Epilepsikirurgi – utredning og pasientseleksjon. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 132(14), s. 1614–1618. doi: 10.4045/tidsskr.11.1149. Fulltekst i vitenarkiv Vis sammendrag

  Bakgrunn. For pasienter med epilepsi har betydelige fremskritt innen bildediagnostikk og video-EEG-monitorering gitt bedre muligheter for å lokalisere det hjerneområdet som gir anfall. Til tross for at epilepsikirurgi dermed kan tilbys flere i dag enn tidligere, blir relativt få henvist til kirurgiutredning. Formålet med denne artikkelen er å gi en kort oversikt over hvem som bør utredes for epilepsikirurgi og hva denne utredningen består i. Kunnskapsgrunnlag. Artikkelen er basert på et litteratursøk i PubMed i tillegg til forfatternes egne erfaringer innen fagfeltet. Resultater. Når epilepsien ikke responderer på noen form for farmakologisk behandling og man har utelukket idiopatisk generalisert epilepsi eller pseudoresistens, bør pasienten henvises for kirurgivurdering. Utredningen er multidisiplinær og har som mål å kartlegge den epileptogene sonen, som kan identifiseres gjennom så vel strukturelle som funksjonelle avvik. Før inngrepet må det avklares om sonen kan fjernes uten å etterlate alvorlige nevrologiske eller kognitive utfall. Best resultater av epilepsikirurgi ses hos pasienter der epilepsien har et morfologisk substrat, særlig temporallappsepilepsi med hippocampussklerose. Fortolkning. Kirurgi spiller en stadig viktigere rolle i behandlingen av vanskelig kontrollerbar epilepsi. Leger som behandler epilepsipasienter, bør henvise potensielle operasjonskandidater tidlig i sykdomsforløpet.

• Ramm, Anette; Selmer, Kaja Kristine & Nakken, Karl Otto (2011). Glukosetransportprotein type 1-mangel. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 131(8), s. 828–831. Fulltekst i vitenarkiv Vis sammendrag

  Bakgrunn. Glukose er hjernens viktigste energikilde. For at glukose skal passere blod-hjerne-barrieren er glukosetransportprotein type 1 (GLUT-1) nødvendig. Mutasjoner i SLC2A1-genet som koder for GLUT-1, kan følgelig gi kompromittert glukosetilførsel til hjernen. Hensikten med denne artikkelen er å beskrive hvilke kliniske konsekvenser slike mutasjoner kan få og spesielt rette søkelyset mot GLUT-1-mangel-encefalopati. Materiale og metode. Grunnlaget for artikkelen er et ikke-systematisk litteratursøk i PubMed med utvalgte artikler i tillegg til forfatternes erfaringer innen feltet. Resultater. Pasienter med GLUT-1-mangel debuterer vanligvis med epilepsiliknende anfall. Etter hvert får de fleste en forsinket psykomotorisk utvikling, mikrocephalus, ataksi, spastisitet og bevegelsesforstyrrelser. EEG kan bli patologisk i løpet av sykdomsforløpet. Diagnosen må mistenkes hos barn med epilepsisuspekte anfall og forsinket utvikling kombinert med lavt nivå av spinalvæskesukker. Diagnosen bekreftes gjennom genetisk testing. Behandlingen er ketogen diett, ettersom ketonlegemer ikke er avhengig av GLUT-1 for å passere blod-hjernebarrieren. Fortolkning. GLUT-1-mangel gir en sjelden metabolsk encefalopati som foreløpig er lite kjent og trolig underdiagnostisert. Tidlig diagnose og tidlig iverksatt behandling med ketogen diett kan gi mange av disse barna et normalt eller tilnærmet normalt liv.

• Larsson, Pål Gunnar; EVSIUKOVA, TATIANA; Brockmeier, Frans; Ramm, Anette & Eeg-Olofsson, Orvar (2010). Do sleep-deprived EEG recordings reflect spike index as found in full-night EEG recordings? Epilepsy & Behavior. ISSN 1525-5050. 19(3), s. 348–351. doi: 10.1016/j.yebeh.2010.07.021. Fulltekst i vitenarkiv

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• Rasmussen, Magnhild; Wallace, Sean Ciaran; Ørstavik, Kristin; Popperud, Trine Haug; Ramm-Pettersen, Anette & Førde, Reidun (2023). Start- og stoppkriterierforsvært dyre medisiner – spinal muskelatrofi som eksempel. 143(14). doi: 10.4045/tidsskr.23.0346. Fulltekst i vitenarkiv
• Baftiu, Arton; Burns, Margrete Larsen; nikaronova, marina; Ramm-Pettersen, Anette; rasmussen, jan borg & Johannessen, Svein Ivar [Vis alle 7 forfattere av denne artikkelen] (2017). Use of eslicarbazepine in children and adolescents with refractory epilepsy at two National Epilepsy Centers, Denmark and Norway. Fulltekst i vitenarkiv
• Evsiukova, T; Brockmeier, F.; Ramm-Pettersen, Anette & Larsson, P (2010). CAN RECORDING OF SLEEP DURING THE DAY TIME REPLACE FULL NIGHT RECORDING IN NOCTURNAL EPILEPTIFORM ACTIVITY? Epilepsia. ISSN 0013-9580. 51, s. 102–102. Fulltekst i vitenarkiv
• Andersen, Guro Lillemoen; Kløve, Nina; Klevberg, Gunvor Lilleholt; Sandberg, Cathrine Utne; Jahnsen, Reidun Birgitta & Stadskleiv, Kristine [Vis alle 62 forfattere av denne artikkelen] (2024). Kunnskapsbasert retningslinje for diagnostisering og oppfølging av personer med cerebral parese i Norge. Sykehuset i Vestfold. Fulltekst i vitenarkiv

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