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Publications (original articles or review articles) published in 2023 from OUS - Department of Clinical Neurosciences for Children

28 publications found

Aden P, Skarbø AB, Wallace S, Ørstavik K, Rasmussen M (2023)
Cognitive function, behaviour and quality of life in children with myotonic dystrophy type 1 in South - Eastern Norway
Eur J Paediatr Neurol, 45, 1-6
DOI 10.1016/j.ejpn.2023.05.004, PubMed 37209486

Bakkeheim E (2023)
The role of cerebral palsy registries in improving patient care and collaboration: A global perspective
Dev Med Child Neurol (in press)
DOI 10.1111/dmcn.15814, PubMed 37986232

Bootsma JN, Stadskleiv K, Phoenix M, Geytenbeek JJM, Gorter JW, McCauley D, Fiske S, Campbell F, Crews N, Cunningham BJ (2023)
Implementation of the C-BiLLT, an accessible instrument to assess language comprehension in children with limited motor and speech function: an international clinician survey
Augment Altern Commun, 39 (3), 135-145
DOI 10.1080/07434618.2023.2197060, PubMed 37310116

Dahl HM, Holthe IL, Løvstad M, Tverdal C, Andelic N, Myhre MC (2023)
Almost half of children and adolescents had unmet need 6 months after their traumatic brain injury
Acta Paediatr, 112 (5), 1019-1028
DOI 10.1111/apa.16693, PubMed 36708075

David LW, Stenberg N, Diseth TH, Helverschou SB, Nyquist CB, Øien RA, Waehre A (2023)
Autistic Characteristics in a Nationally Representative Clinical Sample of Adolescents Seeking Medical Gender-Affirming Treatment in Norway
J Autism Dev Disord (in press)
DOI 10.1007/s10803-023-06181-6, PubMed 38055182

Fjeldvang RT, Nordaas MG, von Tetzchner S, Stadskleiv K (2023)
Measuring impact of augmentative and alternative communication interventions: adapting the family impact of assistive technology scale for augmentative and alternative communication (FIATS-AAC-No) for use in Norway
Augment Altern Commun, 39 (3), 170-180
DOI 10.1080/07434618.2023.2170276, PubMed 37539681

Fosdahl MA, Berg B, Risberg MA, Øiestad BE, Holm I (2023)
Body Mass Index, Quality of Life and Activity Limitation Trajectories over 2 Years in Patients with Knee or Hip Osteoarthritis: A Dual Trajectory Approach Based on 4265 Patients Included in the AktivA Quality Register
J Clin Med, 12 (22)
DOI 10.3390/jcm12227094, PubMed 38002706

Friede P, Hollung SJ, Vik T, Andersen GL, Cameron DL, de Rodez SA, Haugen OH, Lundervold T, Nicholas J, Stadskleiv K (2023)
Norwegian paediatric habilitation centres judge their own competence on cerebral visual impairment as limited
Acta Paediatr, 112 (7), 1530-1536
DOI 10.1111/apa.16778, PubMed 36997302

Ghetti CM, Gaden TS, Bieleninik L, Kvestad I, Assmus J, Stordal AS, Aristizabal Sanchez LF, Arnon S, Dulsrud J, Elefant C, Epstein S, Ettenberger M, Glosli H, Konieczna-Nowak L, Lichtensztejn M, Lindvall MW, Mangersnes J, Murcia Fernández LD, Røed CJ, Saá G, Van Roy B, Vederhus BJ, Gold C (2023)
Effect of Music Therapy on Parent-Infant Bonding Among Infants Born Preterm: A Randomized Clinical Trial
JAMA Netw Open, 6 (5), e2315750
DOI 10.1001/jamanetworkopen.2023.15750, PubMed 37234006

Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N et al. (2023)
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Mol Genet Metab, 139 (3), 107624
DOI 10.1016/j.ymgme.2023.107624, PubMed 37348148

Karlsen RA, Hoel AT, Gjone H, Bjørnland K (2023)
Nurses' Experiences With Anal Dilatations in Babies With Anorectal Malformations - A Focus Group Interview Study
J Pediatr Surg, 58 (10), 1929-1934
DOI 10.1016/j.jpedsurg.2023.04.021, PubMed 37246043

Kiss RS, Chicoine J, Khalil Y, Sladek R, Chen H, Pisaturo A, Martin C, Dale JD, Brudenell TA, Kamath A, Kyei-Boahen J, Hafiane A, Daliah G, Alecki C, Hopes TS, Heier M, Aligianis IA, Lebrun JJ, Aspden J, Paci E, Kerksiek A, Lütjohann D, Clayton P, Wills JC, von Kriegsheim A et al. (2023)
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis
J Biol Chem, 299 (11), 105295
DOI 10.1016/j.jbc.2023.105295, PubMed 37774976

Klevberg GL, Zucknick M, Jahnsen R, Eliasson AC (2023)
Development of Hand Use with and Without Intensive Training Among Children with Unilateral Cerebral Palsy in Scandinavia
Dev Neurorehabil, 26 (3), 163-171
DOI 10.1080/17518423.2023.2193256, PubMed 36945898

Kozlowska K, Schollar-Root O, Savage B, Hawkes C, Chudleigh C, Raghunandan J, Scher S, Helgeland H (2023)
Illness-Promoting Psychological Processes in Children and Adolescents with Functional Neurological Disorder
Children (Basel), 10 (11)
DOI 10.3390/children10111724, PubMed 38002815

Lillehaug HA, Klevberg GL, Stadskleiv K (2023)
Provision of augmentative and alternative communication interventions to Norwegian preschool children with cerebral palsy: are the right children receiving interventions?
Augment Altern Commun, 39 (4), 219-229
DOI 10.1080/07434618.2023.2212068, PubMed 37212772

Misceo D, Lirussi L, Strømme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, Kroes HY, Nyman TA, Nilsen HL, Frengen E (2023)
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
Brain, 146 (8), 3513-3527
DOI 10.1093/brain/awad086, PubMed 36917474

Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E (2023)
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928

Moksnes HØ, Schäfer C, Rasmussen MS, Soberg HL, Røise O, Anke A, Røe C, Næss PA, Gaarder C, Helseth E, Dahl HM, Hestnes M, Brunborg C, Andelic N, Hellstrøm T (2023)
Functional Outcomes at 6 and 12 Months Post-Injury in a Trauma Centre Population with Moderate-to-Severe Traumatic Injuries
J Clin Med, 12 (16)
DOI 10.3390/jcm12165300, PubMed 37629342

Moksnes HØ, Schäfer C, Rasmussen MS, Søberg HL, Røise O, Anke A, Røe C, Næss PA, Gaarder C, Helseth E, Dahl HM, Hestnes M, Brunborg C, Andelic N, Hellstrøm T (2023)
Factors associated with discharge destination from acute care after moderate-to-severe traumatic injuries in Norway: a prospective population-based study
Inj Epidemiol, 10 (1), 20
DOI 10.1186/s40621-023-00431-y, PubMed 37055808

Oslo Chronic Fatigue Consortium, Alme TN, Andreasson A, Asprusten TT, Bakken AK, Beadsworth MB, Boye B, Brodal PA, Brodwall EM, Brurberg KG, Bugge I, Chalder T, Due R, Eriksen HR, Fink PK, Flottorp SA, Fors EA, Jensen BF, Fundingsrud HP, Garner P, Havdal LB, Helgeland H, Jacobsen HB, Johnson GE, Jonsjö M et al. (2023)
Chronic fatigue syndromes: real illnesses that people can recover from
Scand J Prim Health Care, 41 (4), 372-376
DOI 10.1080/02813432.2023.2235609, PubMed 37740918

Rasmussen M, Wallace S, Ørstavik K, Popperud T, Ramm-Pettersen A, Førde R (2023)
[Not Available]
Tidsskr Nor Laegeforen, 143 (14)
DOI 10.4045/tidsskr.23.0346, PubMed 37830969

Rinde ER, Anderzén-Carlsson A, Jahnsen RB, Andersen RD (2023)
"I have to obey my pain" - children's experiences of pain burden in cerebral palsy
Disabil Rehabil, 1-9 (in press)
DOI 10.1080/09638288.2023.2191012, PubMed 36987867

Sargénius HL, Andersson S, Haugen I, Hypher R, Brandt AE, Finnanger TG, Rø TB, Risnes K, Stubberud J (2023)
Cognitive rehabilitation in paediatric acquired brain injury-A 2-year follow-up of a randomised controlled trial
Front Neurol, 14, 1173480
DOI 10.3389/fneur.2023.1173480, PubMed 37325227

Simeunovic A, Brunborg C, Heier M, Seljeflot I, Dahl-Jørgensen K, Margeirsdottir HD (2023)
Sustained low-grade inflammation in young participants with childhood onset type 1 diabetes: The Norwegian atherosclerosis and childhood diabetes (ACD) study
Atherosclerosis, 379, 117151
DOI 10.1016/j.atherosclerosis.2023.05.020, PubMed 37349194

Ullenhag A, Jahnsen R, Klove N, Smedvig S, Hoberg A (2023)
How did youth with cerebral palsy perceive participation in everyday life after participating in a periodical intensive rehabilitation program based on adapted physical activity in groups? A qualitative interview study
Disabil Rehabil, 1-9 (in press)
DOI 10.1080/09638288.2023.2180096, PubMed 36803505

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A et al. (2023)
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet, 32 (4), 580-594
DOI 10.1093/hmg/ddac225, PubMed 36067010

Videnovic A, Pfeiffer HCV, Tylki-Szymańska A, Berry-Kravis E, Ezgü F, Ganju J, Jurecka A, Lang AE (2023)
Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration
Front Neurol, 14, 1098454
DOI 10.3389/fneur.2023.1098454, PubMed 36970548

Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA et al. (2023)
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
J Inherit Metab Dis (in press)
DOI 10.1002/jimd.12658, PubMed 37452721