Terje Nærland

• Granerud, Guro; Arntzen, Erik; Nærland, Terje; Malt, Eva Albertsen; Hatlestad-Hall, Christoffer & Jönsson, Erik Gunnar [Vis alle 8 forfattere av denne artikkelen] (2026). Equivalence class formation, priming, and N400 in autism spectrum disorder. Learning and Motivation. ISSN 0023-9690. 95. doi: 10.1016/j.lmot.2026.102307. Fulltekst i vitenarkiv
• Barak, Eden Nordvold; Kolskår, Knut-Kristian; Dahl, Christine; Alnæs, Dag; Andreassen, Ole & Nærland, Terje [Vis alle 9 forfattere av denne artikkelen] (2026). Birth Weight and Neurodevelopmental Disorders Across Diagnostic Categories: A Registry-Based Case–Control Study in Clinically Ascertained Samples | Child Psychiatry & Human Development | Springer Nature Link. Child Psychiatry and Human Development. ISSN 0009-398X. doi: 10.1007/s10578-026-02090-8. Fulltekst i vitenarkiv Vis sammendrag

  Increasing prevalence of neurodevelopmental disorders (NDDs) is a growing public health concern. Identifying early risk markers may facilitate earlier intervention and reduce long-term burden. Although birth weight has been widely studied in relation to NDDs, evidence from clinically ascertained samples with single and overlapping diagnoses remains limited. In this case-control study, we compared birth weight between clinically referred individuals with intellectual disability (ID), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD) from the Norwegian BUPgen registry (n = 720) and a population-based sample from the Norwegian Mother, Father and Child Cohort Study (MoBa) (n = 98,716). Perinatal data were obtained through linkage to the Medical Birth Registry of Norway. Associations were examined using logistic regression adjusted for gestational age, sex, and parental age. Additional analyses assessed interactions by sex and parental age, and birth weight categories. For each 100 g decrease in birth weight, odds significantly increased for the groups any NDD (one or more NDD diagnoses; OR = 1.04) and multiple diagnoses (two or more co-occurring NDDs; OR = 1.07). In diagnosis specific analyses, odds significantly increased for ID (OR = 1.15) and ASD (OR = 1.03). No interactions were observed. In categorical analyses, low birth weight was associated with higher odds of ID (OR = 8.27, p < 0.001), multiple diagnoses (OR = 4.96, p < 0.001), and any NDD (OR = 2.11, p = 0.002). No associations were observed for high birth weight. These findings support low birth weight as an early marker of neurodevelopmental vulnerability across NDD outcomes. Lower birth weight was associated with higher odds of ID, ASD, multiple diagnoses and any NDD, but not ADHD. Associations were strongest and most consistent for ID and comorbid presentations, indicating heterogeneity across diagnostic categories. Increased risk was primarily observed at low birth weight, with no associations for high birth weight. Findings support birth weight as an early marker of neurodevelopmental vulnerability in a clinically ascertained sample.

• Muntané, Gerard; Shadrin, Alexey; Guardiola-Ripoll, M.; O'Connell, Kevin Sean; Frei, Oleksandr & Nærland, Terje [Vis alle 8 forfattere av denne artikkelen] (2026). Genetic overlap and shared risk loci between autism spectrum disorder and cardiometabolic traits. Molecular Psychiatry. ISSN 1359-4184. doi: 10.1038/s41380-026-03563-x. Fulltekst i vitenarkiv Vis sammendrag

  Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting 2% of the global population. Beyond core symptoms such as social communication deficits and repetitive behaviors, individuals with ASD are at increased risk of cardiometabolic comorbidities, including obesity, diabetes, and cardiovascular disease. Here, we investigate the shared genetic architecture between ASD and cardiometabolic traits using large genome-wide association studies datasets and advanced statistical approaches: the bivariate causal mixture (MiXeR) model and pleiotropy-informed conditional false discovery rate (pleioFDR). Our results show significant polygenic overlap between ASD and several cardiometabolic phenotypes, despite almost negligible genetic correlation between the traits. Specifically, we observed positive genetic correlations within the shared component for ASD and metabolic traits, such as body mass index (rg=0.03), type 2 diabetes (rg=0.23), and total cholesterol (rg=0.78). In contrast, negative correlations emerged between ASD and cardiovascular traits, including diastolic and systolic blood pressure (rg = -0,22, for both), pulse pressure (rg = -0.25), and coronary artery disease (rg = -0.90). Finally, we identified 100 shared loci between ASD and cardiometabolic traits, mapping to 124 genes and suggesting shared biological mechanisms underlying these phenotypes and pointing to potential therapeutic targets. Shared loci between ASD and metabolic traits predominantly showed concordant effects, whereas those overlapping with cardiovascular traits—particularly blood pressure–related traits—tended to exhibit discordant effects. Together, these findings deepen our understanding of the biological connections between ASD and cardiometabolic comorbidities and may help inform more personalized strategies for managing ASD and its associated long-term health risks.

• Sartorius, Alina Marie; Meer, Dennis van der; Shadrin, Alexey; Rokicki, Jaroslav; Campbell, Megan & Winterton, Adriano [Vis alle 11 forfattere av denne artikkelen] (2026). Genetic pathways linking oxytocin-vasotocin hypothalamic subunit architecture with psychiatric and metabolic traits. Molecular Psychiatry. ISSN 1359-4184. doi: 10.1038/s41380-026-03508-4. Fulltekst i vitenarkiv
• Walle, Kjersti Mæhlum; Sartorius, Alina I.; Deilhaug, Elisabeth; Kang, Heemin; Nærland, Terje & Andreassen, Ole [Vis alle 8 forfattere av denne artikkelen] (2026). Reframing oxytocin as a behavioral flexibility hormone. Neuroscience and Biobehavioral Reviews. ISSN 0149-7634. 185. doi: 10.1016/j.neubiorev.2026.106628. Fulltekst i vitenarkiv
• Hope, Sigrun; Lin, Aihua; Rødevand, Linn; Hübenette, Saira Jameela; Quintana, Daniel & Sønderby, Ida Elken [Vis alle 17 forfattere av denne artikkelen] (2025). Shared genetic architecture between autism spectrum disorder, loneliness, and social isolation reveals novel genetic loci. Psychiatric Genetics. ISSN 0955-8829. doi: 10.1097/ypg.0000000000000406. Fulltekst i vitenarkiv Vis sammendrag

  Objective: Deficits in social communication and social interaction are core features of autism spectrum disorder (ASD), and studies suggest that loneliness and social isolation are common. ASD has a strong genetic basis, but the genetic architecture and overlap with social phenotypes are not clear. Methods: We analyzed summary statistics from genome-wide association studies on ASD (46 350), loneliness (452 302), and social isolation (288 950), using linkage disequilibrium score regression, local analysis of covariant annotation (LAVA), bivariate causal mixture model (MiXeR), and the conditional/conjunctional false discovery rate (cond/conjFDR). Results: For ASD and social isolation, we found nonsignificant global genetic correlation ( r g = 0.02, P  = 0.8), but LAVA identified 72 genomic regions with bidirectional correlations, and MiXeR estimated that 8.7 k of 13.1 k variants (81%) were shared, of which 53% had concordant effect directions. For ASD and loneliness, we found a positive genetic correlation ( r g = 0.26, P  = 2e-10), LAVA identified 80 genomic regions with bidirectional genetic correlations, and MiXeR suggested that at least 3.8 k variants were shared. We identified nine specific shared genetic loci between ASD and loneliness and eight between ASD and social isolation (conjFDR < 0.05). Of these, 12 loci were novel for ASD. Genes mapped to these loci are involved in γ-aminobutyric acid (GABA), glutamate, calcium, and stress hormone signaling, cerebral glucose transport, TAU-accumulation, and immune function. Conclusion: We found extensive overlap in genetic architecture between ASD, loneliness, and social isolation, with bidirectional effects. By leveraging data for ASD and social traits, we identified 12 novel ASD related genetic loci implicating several genes, thereby elucidating potential pathways underlying their shared genetic architecture.

• Bjerkreim, Hilde; Thorbjørnsen, Bjarne Løberg; Nærland, Terje; Drolsum, Liv Kari & Kristianslund, Olav (2025). Nationwide study of the association between keratoconus and autism spectrum disorder. Journal of cataract and refractive surgery. ISSN 0886-3350. 51(12), s. 1057–1062. doi: 10.1097/j.jcrs.0000000000001740. Fulltekst i vitenarkiv Vis sammendrag

  Purpose: To examine whether there was an association between keratoconus and autism spectrum disorder (ASD) in Norway and compare with the general population. Setting: The total population of Norway, including all individuals with ASD and keratoconus. Design: Cross-sectional epidemiological study. Methods: Data were obtained from the Norwegian Patient Registry, which provides information from all publicly funded specialist care. The keratoconus prevalence among persons with ASD was estimated from the total number of individuals with keratoconus in the period 2010-2019 and compared with the prevalence in the general population of Norway during the same period. Results: A population-based sample in Norway identified 23 763 persons with ASD, equivalent to 0.5% of the population, and of these, 115 (0.5%) had a diagnosis of keratoconus. The average age at keratoconus diagnosis among individuals with ASD was 27.3 years, and 83.5% of those diagnosed with both ASD and keratoconus were men. During the same period, the prevalence of keratoconus in the general population of Norway was 0.2%, resulting in an odds ratio of 2.5 (95% CI 2.0-3.0). Conclusions: Based on our findings, people with ASD have significantly higher prevalence of keratoconus compared with the general population of Norway. This implicates that one should have increased awareness for keratoconus and low threshold for corneal tomography in patients with ASD.

• Bull, Emilie Meyer; Hofmann, Bjørn Morten; Nærland, Terje; Andreassen, Ole; Quintana, Daniel & Hassel, Bjørnar (2025). Ethical and practical concerns of heart rate monitoring: Enabling communication for patients with severe communication difficulties. Clinical Ethics. ISSN 1477-7509. 20(3), s. 170–181. doi: 10.1177/14777509251361204. Fulltekst i vitenarkiv Vis sammendrag

  Monitoring technologies to aid communication in long-term patient care may enhance safety but infringe on privacy. While autonomy is a primary value in bioethics, definitions of autonomy often take for granted a minimum level of communicative ability. This paper explores how contemporary philosophical arguments for using long-term preventative monitoring apply to individuals without the ability to consent to such technologies. Specifically, how do the ethical principles of autonomy, justice, safety, and privacy manifest when implementing technologies such as long-term heart rate monitoring for individuals with severe communication difficulties? While monitoring someone without their consent is ethically problematic, providing heart rate monitoring for individuals with severe communication difficulties may be morally imperative as a necessary means of interaction. Heart rate monitoring enhances their autonomy by offering a form of communication, and it shows promise as safety -inducing through quicker detection of distress. Simultaneously, heart rate monitoring is a form of surveillance, thus potentially violating privacy ; and misinterpretation or over-reliance on such data might undermine the patient's autonomy , lead to unnecessary interventions or result in reduced human interaction. Restricting monitoring based on consent capacity may deepen care disparities and violate the justice principle but so does selectively applying it to disabled individuals. We conclude that heart rate monitoring might greatly benefit this population, but we need to balance potential benefits for the individual with the risks, trained caregivers must integrate data with other cues, and we need data encryption, collaborative decision-making, and regular reassessment.

• Daae, Elisabeth; Feragen, Kristin Judith Billaud; Nærland, Terje & Lippe, Charlotte von der (2025). Health care professionals’ experiences of caring for children with severe epidermolysis bullosa. Health Psychology Open (HPO). 12, s. 1–13. doi: 10.1177/20551029251391232. Fulltekst i vitenarkiv Vis sammendrag

  Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous disorders characterized by skin fragility and blistering. It is currently incurable, and care is complex because of the rarity of the disease. Epidermolysis bullosa has a major impact on the lives of people living with it and on their families. In this study, we aimed to explore health care professionals’ (HCPs) experiences of treating and following up on children with EB and their families. Nine HCPs from several health care disciplines participated in semi-structured interviews, which were analyzed through reflexive thematic analysis. Two main themes were identified: caring as an act of balance and facilitating collaboration. All participants experienced the following as challenging: (a) balancing between professional decisions and the provision of guidance to parents and (b) dealing with their own emotions. More systematic research is needed on the psychological impact of caring for children with EB and their families on HCPs.

• Kang, Heemin; Glaser, Bernt Damian; Sartorius, Alina Marie; Audunsdottir, Kristin; Bull, Emilie Meyer & Nærland, Terje [Vis alle 9 forfattere av denne artikkelen] (2025). Effects of oxytocin administration on non-social executive functions in humans: A preregistered systematic review and meta-analysis. Molecular Psychiatry. ISSN 1359-4184. doi: 10.1038/s41380-024-02871-4. Fulltekst i vitenarkiv
• Tissink, E.P.; Shadrin, Alexey; Meer, Dennis van der; Parker, Nadine; Hindley, Guy & Roelfs, Daniel [Vis alle 18 forfattere av denne artikkelen] (2024). Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study. Nature Communications. 15. doi: 10.1038/s41467-024-46817-4. Fulltekst i vitenarkiv Vis sammendrag

  Genetic pleiotropy is abundant across spatially distributed brain characteristics derived from one neuroimaging modality (e.g. structural, functional or diffusion magnetic resonance imaging [MRI]). A better understanding of pleiotropy across modalities could inform us on the integration of brain function, micro- and macrostructure. Here we show extensive genetic overlap across neuroimaging modalities at a locus and gene level in the UK Biobank (N = 34,029) and ABCD Study (N = 8607). When jointly analysing phenotypes derived from structural, functional and diffusion MRI in a genome-wide association study (GWAS) with the Multivariate Omnibus Statistical Test (MOSTest), we boost the discovery of loci and genes beyond previously identified effects for each modality individually. Cross-modality genes are involved in fundamental biological processes and predominantly expressed during prenatal brain development. We additionally boost prediction of psychiatric disorders by conditioning independent GWAS on our multimodal multivariate GWAS. These findings shed light on the shared genetic mechanisms underlying variation in brain morphology, functional connectivity, and tissue composition.

• Szabo, Attila; O'Connell, Kevin Sean; Akkouh, Ibrahim Ahmed; Ueland, Thor; Sønderby, Ida Elken & Hope, Sigrun [Vis alle 16 forfattere av denne artikkelen] (2024). Elevated levels of peripheral and central nervous system immune markers reflect innate immune dysregulation in autism spectrum disorder. Psychiatry Research. ISSN 0165-1781. 342. doi: 10.1016/j.psychres.2024.116245. Fulltekst i vitenarkiv Vis sammendrag

  Background Evidence suggests dysregulated immune functions in the pathophysiology of Autism spectrum disorder (ASD), although specific immune mechanisms are yet to be identified. Methods We assessed circulating levels of 25 immune/neuroinflammatory markers in a large ASD sample (n = 151) and matched controls (n = 72) using linear models. In addition, we performed global brain transcriptomics analyses of relevant immune-related genes. We also assessed the expression and function of factors and pathway elements of the inflammasome system in peripheral blood mononuclear cells (PBMC) isolated from ASD and controls using in vitro methods. Results We found higher circulating levels of IL-18 and adhesion factors (ICAM-1, MADCAM1) in individuals with ASD relative to controls. Consistent with this, brain levels of ICAM1 mRNA were also higher in ASD compared to controls. Furthermore, we found higher expression/activity of Caspase-1 and the inflammasome sensor NLRP3 in PBMCs in ASD, both at baseline and following inflammatory challenge. This corresponded with higher levels of secreted IL-18, IL-1β, and IL-8, as well as increased expression of adhesion factors following inflammasome activation in ASD PBMC cultures. Inhibition of the NLRP3-inflammasome rescued the observed immune phenotype in ASD in vitro. Conclusion Our results suggest a role for inflammasome dysregulation in ASD pathophysiology.

• Audunsdottir, Kristin; Sartorius, Alina Marie; Kang, Heemin; Glaser, Bernt Damian; Bøen, Rune & Nærland, Terje [Vis alle 11 forfattere av denne artikkelen] (2024). The effects of oxytocin administration on social and routinized behaviors in autism: A preregistered systematic review and meta-analysis. Psychoneuroendocrinology. ISSN 0306-4530. 167. doi: 10.1016/j.psyneuen.2024.107067. Fulltekst i vitenarkiv Vis sammendrag

  Oxytocin administration has demonstrated considerable promise for providing individualized support for autistic people. However, studies evaluating the effects of oxytocin administration on autistic characteristics have yielded inconsistent results. This systematic review and meta-analysis investigates the effect of oxytocin administration on social and routinized behaviors in autism using recently developed methods to accurately assess the potential impact of effect size dependency and publication bias. Our frequentist meta-analysis yielded a significant summary effect size estimate for the impact of oxytocin administration on social outcomes in autism (d = 0.22, p < 0.001). The summary effect size estimate for routinized behavior outcomes was not statistically significant (d = 0.14, p = 0.22), with a follow up test indicating that the effect size estimate was not either statistically equivalent (Z = −1.06, p = 0.2), assuming a smallest effect size of interest of 0.25. Frequentist and Bayesian assessments for publication bias, as well as results from Robust Bayesian meta-analysis of oxytocin effects on social outcomes in autism, indicated that summary effect sizes might be inflated due to publication bias. Future studies should aim to reduce bias by preregistering analysis plans and to increase precision with larger sample sizes.

• Røe, Anne Berit; Jullumstrø, Sidsel; Eig, Kristin Brobakken; Lydersen, Stian; Nærland, Terje & Høyland, Anne Lise (2024). Autismediagnose hos skolebarn i Trøndelag Sør 2016–19. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 144(15), s. 1–11. doi: 10.4045/tidsskr.24.0259. Fulltekst i vitenarkiv Vis sammendrag

  Bakgrunn Vi har tidligere rapportert en betydelig økt forekomst av autismespektertilstander hos førskolebarn i Trøndelag Sør som har mødre med en annen landbakgrunn enn Norge. I denne studien ønsket vi å undersøke om det også var en liknende overhyppighet hos skolebarn i samme tidsperiode og geografiske område. I tillegg ville vi kartlegge psykiatrisk komorbiditet og andre utviklingsforstyrrelser. Materiale og metode Vi gjorde en retrospektiv gjennomgang av pasientjournaler hos barn 10–16 år registrert med autismediagnose i 2016–19. Resultater 18 av 125 inkluderte barn hadde mor med annen landbakgrunn. Dette tilsvarte en insidensrate på 0,18 %, mot 0,12 % for barn med norskfødte mødre (relativ risiko 1,5; 95 % konfidensintervall 0,87 til 2,50, p = 0,11). 74 barn var diagnostisert med minst én annen utviklingsforstyrrelse eller psykiatrisk tilstand før de fikk autismediagnosen, de fleste med ADHD. Fire hadde samtidig utviklingshemming. Fortolkning Mors landbakgrunn synes å ha mindre betydning hos skolebarn enn hos førskolebarn som får autismespekterdiagnose, og alder ved diagnostisering bør inngå i studier av autisme hos barn og unge. Psykiatrisk komorbiditet og andre samtidige utviklingsforstyrrelser kan være uttrykk for felles etiologiske faktorer eller økt sårbarhet ved udiagnostisert autisme hos barn.

• Daae, Elisabeth; Feragen, Kristin Judith Billaud; Nærland, Terje & Lippe, Charlotte von der (2024). When care hurts: parents' experiences of caring for a child with epidermolysis bullosa. Orphanet Journal of Rare Diseases. 19(1), s. 1–11. doi: 10.1186/s13023-024-03502-5. Fulltekst i vitenarkiv Vis sammendrag

  Background: Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters in addition to painful and time consuming skin care, often performed by the parents, in addition to monitoring other symptoms in cases of severe EB. Results: The purpose of this study was to explore parental experiences of caring for a child with EB. Data were collected from semi-structured interviews, and analyzed through reflexive thematic analysis. The sample consisted of 15 parents. Our analysis revealed three main themes: Becoming a self-taught provider of home-based skin care; Balancing roles; and Ahead of every challenge. The results indicate aspects of caring for a child with EB that may be under-recognized by healthcare professionals (HCPs) and allied caretakers. Examples of this was extensive home care, learning skin care through trial-and-error, tension between illness-demands and the child's psychological needs, and parents being gatekeepers of their child's well-being. Conclusions: Caring for a child with EB may imply practical and emotionally demanding tasks for the parents, and possible unmet healthcare needs. It is important that HCPs recognize and understand the potential burden of extensive home care these parents experience as part of providing for their child with EB and the family.

• Cockerell, Ine Tracey; Christensen, Jakob; Hoei-Hansen, Christina; Holst, Lotte; Frediksen, Mikkel G & Issa-Epa, Aart Imran [Vis alle 12 forfattere av denne artikkelen] (2023). Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice. Orphanet Journal of Rare Diseases. 18(1), s. 1–14. doi: 10.1186/s13023-023-02982-1. Fulltekst i vitenarkiv Vis sammendrag

  Background The randomised double‑blinded placebo‑controlled EXIST‑1–3 studies have showed everolimus effective with adverse effects reported as acceptable in treatment of symptoms in patients with tuberous sclerosis complex (TSC), although evidence of outcomes in clinical practice remains limited. This study aimed to investigate, in clinical practice, the effectiveness and safety of everolimus for epilepsy, renal angiomyolipoma (rAML), and sub‑ ependymal giant cell astrocytoma (SEGA) in patients with TSC. Results The study included 64 patients with TSC (median age: 19, range 0.9–54 years) receiving everolimus treat‑ ment (Norway: n = 35; Denmark: n = 29). Among 45 patients with epilepsy, 14 (31%) were responders experiencing ≥ 50% reduction in seizure frequency in the last 3 months of treatment compared with the last 3 months before treat‑ ment. Nineteen (42%) patients changed their anti‑seizure medications (ASMs). Responders were more common among patients < 18 years (46%) than among patients ≥ 18 years (14%, p = 0.03). In 29 patients with rAML, everolimus reduced (≥ 30% decrease) and stabilized (< 20% increase, ≤ 30% decrease) longest diameter of rAML in 38% and 59%, respectively, after a mean treatment duration of 37 months. SEGA volume was reduced in three patients by 71%, 43%, and 48% after 39, 34, and 82 months. Adverse effects were reported in 61 of 64 patients (95%) after a median treat‑ ment duration of 31 months (range 0–106), with oral ulceration/stomatitis (63%) and upper respiratory tract infec‑ tions (38%) being the most common. The most common laboratory abnormalities were increased cholesterol (41%), anaemia (30%), and leucopoenia (25%). Grade 3–4 adverse effects were reported in 36% of cases, and life‑threatening conditions were reported in two patients. Nine patients discontinued everolimus treatment. Conclusions Seizure reduction in this study sample was consistent with results from EXIST, but might be lower than expected, given that changes in concomitant ASMs are part of clinical practice. Seizure reduction was associ‑ ated with younger age. As with EXIST, everolimus reduced or stabilised rAML size in most patients. SEGA volume was reduced in all three patients. Close follow‑up is needed for this group, especially for children and patients who may not be able to report adverse effects.

• Hope, Sigrun; Shadrin, Alexey; Lin, Aihua; Bahrami, Shahram; Rødevand, Linn & Frei, Oleksandr [Vis alle 17 forfattere av denne artikkelen] (2023). Bidirectional genetic overlap between autism spectrum disorder and cognitive traits. Translational Psychiatry. 13(1), s. 1–9. doi: 10.1038/s41398-023-02563-7. Fulltekst i vitenarkiv Vis sammendrag

  Autism spectrum disorder (ASD) is a highly heritable condition with a large variation in cognitive function. Here we investigated the shared genetic architecture between cognitive traits (intelligence (INT) and educational attainment (EDU)), and risk loci jointly associated with ASD and the cognitive traits. We analyzed data from genome-wide association studies (GWAS) of INT (n = 269,867), EDU (n = 766,345) and ASD (cases n = 18,381, controls n = 27,969). We used the bivariate causal mixture model (MiXeR) to estimate the total number of shared genetic variants, local analysis of co-variant annotation (LAVA) to estimate local genetic correlations, conditional false discovery rate (cond/conjFDR) to identify specific overlapping loci. The MiXeR analyses showed that 12.7k genetic variants are associated with ASD, of which 12.0k variants are shared with EDU, and 11.1k are shared with INT with both positive and negative relationships within overlapping variants. The majority (59–68%) of estimated shared loci have concordant effect directions, with a positive, albeit modest, genetic correlation between ASD and EDU (rg = 0.21, p = 2e−13) and INT (rg = 0.22, p = 4e−12). We discovered 43 loci jointly associated with ASD and cognitive traits (conjFDR<0.05), of which 27 were novel for ASD. Functional analysis revealed significant differential expression of candidate genes in the cerebellum and frontal cortex. To conclude, we quantified the genetic architecture shared between ASD and cognitive traits, demonstrated mixed effect directions, and identified the associated genetic loci and molecular pathways. The findings suggest that common genetic risk factors for ASD can underlie both better and worse cognitive functioning across the ASD spectrum, with different underlying biology.

• Bull, Emilie Meyer; Audunsdottir, Kristin; Jacobsen, Henrik Børsting; Kang, Heemin; Sartorius, Alina Marie & Glaser, Bernt Damian [Vis alle 14 forfattere av denne artikkelen] (2023). Heart Rate Variability and Pain: A Protocol for a Systematic Review and Meta-Analysis. OSF Preprints. doi: 10.31219/osf.io/arfm6. Fulltekst i vitenarkiv
• Hope, Sigrun; Nærland, Terje; Kolset, Svein Olav; Ueland, Thor; Andreassen, Ole & Nordstrøm, Marianne (2023). Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor. Orphanet Journal of Rare Diseases. 18(1), s. 185–185. doi: 10.1186/s13023-023-02730-5. Fulltekst i vitenarkiv Vis sammendrag

  Background - Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental syndrome with highly increased risk of obesity and cardiovascular disease (CVD). Recent evidence suggests that inflammation is implicated in the pathogenesis. Here we investigated CVD related immune markers to shed light on pathogenetic mechanisms.<p> <p>Methods - We performed a cross-sectional study with 22 participants with PWS and 22 healthy controls (HC), and compared levels of 21 inflammatory markers that reflect activity in different aspects of CVD related immune pathways and analyzed their association with clinical CVD risk factors.<p> <p>Results - Serum levels of matrix metalloproteinase 9 (MMP-9) was (median (range)) 121 (182) ng/ml in PWS versus 44 (51) ng/ml in HC, p = 1 × 10-9), myeloperoxidase (MPO) was 183 (696) ng/ml versus 65 (180) ng/ml, p = 1 × 10-5) and macrophage inhibitory factor (MIF) was 46 (150) ng/ml versus 121 (163) ng/ml (p = 1 × 10-3), after adjusting for age and sex. Also other markers tended to be elevated (OPG, sIL2RA, CHI3L1, VEGF) but not significantly after Bonferroni correction (p > 0.002). As expected PWS had higher body mass index, waist circumference, leptin, C-reactive protein, glycosylated hemoglobin (HbA1c), VAI and cholesterol, but MMP-9, MPO and MIF remained significantly different in PWS after adjustment for these clinical CVD risk factors.<p> <p>Conclusion - PWS had elevated levels of MMP-9 and MPO and of reduced levels of MIF, which were not secondary to comorbid CVD risk factors. This immune profile suggests enhanced monocyte/neutrophil activation, impaired macrophage inhibition with enhanced extracellular matrix remodeling. These findings warrant further studies targeting these immune pathways in PWS.

• Hansen, Berit M Hjelde; Andresen, Hilde Norsted; Gjesvik, Jonas; Thorsby, Per Medbøe; Nærland, Terje & Knudsen, Stine (2023). Associations between psychiatric comorbid disorders and executive dysfunctions in hypocretin-1 deficient pediatric narcolepsy type1. Sleep Medicine. ISSN 1389-9457. 109, s. 149–157. doi: 10.1016/j.sleep.2023.06.021. Fulltekst i vitenarkiv Vis sammendrag

  Objective/Background Psychiatric symptoms and cognitive deficits add significantly to impairment in academic achievement and quality of life in patients with narcolepsy. The primary aim of this study was to evaluate the prevalence of psychiatric disorders and executive dysfunctions, secondly to explore the association between psychiatric comorbidity, executive dysfunctions, subjective and objective sleep measures, and severity of cerebrospinal fluid (CSF) hypocretin-1 deficiency in pediatric narcolepsy type 1 (PNT1). Patients/Methods Cross-sectional study of 59 consecutively included PNT1 patients (age: 6-20 years; 34:25 girls: boys; 54/59 H1N1 (Pandemrix®)-vaccinated). Core narcolepsy symptoms including subjective sleepiness, polysomnography and multiple sleep latency test results, CSF hypocretin-1 levels, psychiatric disorders (by semistructured diagnostic interview Kaufmann Schedule for Affective Disorders and Schizophrenia Present and Lifetime version (KSADS)), and executive dysfunction (by Behavior Rating of Executive Function (BRIEF)) were assessed. Results 52.5% of the patients had one or more psychiatric comorbid disorder, and 64.7% had executive dysfunction in a clinically relevant range, with no sex difference in prevalence, while older age was associated with poorer executive function (p=0.013). Having any psychiatric comorbid disorder was associated with poorer executive functions (p=0.001). CSF hypocretin-1 deficiency severity was significantly associated with presence of psychiatric comorbidity (p=0.022) and poorer executive functions (p=0.030), and poorer executive functions was associated with subjective sleepiness (p=0.009). Conclusions The high occurrence of, and association between, psychiatric comorbidity and executive dysfunction underlines the importance of close attention to both these comorbidities in clinical care of NT1.

• Bull, Emilie Meyer; Nærland, Terje; Lahlum, Silje; Szabo, Attila; Andreassen, Ole & Quintana, Daniel [Vis alle 7 forfattere av denne artikkelen] (2023). Development and Validation of the Non-Verbal Patient-Caregiver Understanding Questionnaire (NPUQ): Assessing Communication Challenges and Their Impacts. OSF Preprints. doi: 10.31234/osf.io/89ktd. Fulltekst i vitenarkiv
• Granerud, Guro; Elvsåshagen, Torbjørn; Arntzen, Erik; Juhasz, Katalin; Emilsen, Nina Merete & Sønderby, Ida Elken [Vis alle 8 forfattere av denne artikkelen] (2022). A family study of symbolic learning and synaptic plasticity in autism spectrum disorder. Frontiers in Human Neuroscience. 16. doi: 10.3389/fnhum.2022.950922. Fulltekst i vitenarkiv Vis sammendrag

  The current study presents a male with autism spectrum disorder (ASD) and a 3q29 deletion, and three healthy first-degree relatives. Our magnetic resonance imaging (MRI) dataset included a healthy control subset. We describe a comprehensive multimodal approach, including equivalence class formation, neurocognitive testing, MRI, and electroencephalography (EEG)-based cortical plasticity, which can provide new insights into sociocommunicative and learning impairments and neural underpinnings in ASD. On neurocognitive testing, the proband showed reduced processing speed, attending behavior, and executive function. He required more training trials in equivalence class training compared with family members and exhibited impaired priming of words compared with priming with images. The proband had smaller intracranial volume and surface area and a larger visual evoked potential (VEP) C1 amplitude than family members and intact long-term potentiation (LTP)-like visual cortex plasticity. Together, these results suggest that 3q29 deletion-related ASD is associated with impaired problem-solving strategies in complex socio-communicative and learning tasks, smaller intracranial and surface area, altered VEP amplitude, and normal LTP-like visual cortex plasticity. Further studies are needed to clarify whether this multimodal approach can be used to identify ASD subgroups with distinct neurobiological alterations and to uncover mechanisms underlying sociocommunicative and learning impairments. Lay Summary: We studied learning, brain activity, and brain structure in a person with autism and a genetic aberration, and his close relatives. Compared with relatives, the person with autism required more training for learning, and visual learning was better than verbal learning. This person had some changes in the activity of the visual cortex, and the size and the surface area of the brain were reduced. Knowledge about learning and brain mechanisms is valuable for the development of training programs for individuals with autism.

• Jensen, Søren Beck; Sheikh, Mashhood Ahmed; Akkouh, Ibrahim Ahmed; Szabo, Attila; O'Connell, Kevin Sean & Lekva, Tove [Vis alle 23 forfattere av denne artikkelen] (2022). Elevated Systemic Levels of Markers Reflecting Intestinal Barrier Dysfunction and Inflammasome Activation Are Correlated in Severe Mental Illness. Schizophrenia Bulletin. ISSN 0586-7614. 49(3), s. 635–645. doi: 10.1093/schbul/sbac191. Fulltekst i vitenarkiv Vis sammendrag

  Abstract Background and Hypothesis Gut microbiota alterations have been reported in severe mental illness (SMI) but fewer studies have probed for signs of gut barrier disruption and inflammation. We hypothesized that gut leakage of microbial products due to intestinal inflammation could contribute to systemic inflammasome activation in SMI. Study Design We measured plasma levels of the chemokine CCL25 and soluble mucosal vascular addressin cell adhesion molecule-1 (sMAdCAM-1) as markers of T cell homing, adhesion and inflammation in the gut, lipopolysaccharide binding protein (LBP) and intestinal fatty acid binding protein (I-FABP) as markers of bacterial translocation and gut barrier dysfunction, in a large SMI cohort (n = 567) including schizophrenia (SCZ, n = 389) and affective disorder (AFF, n = 178), relative to healthy controls (HC, n = 418). We assessed associations with plasma IL-18 and IL-18BPa and leukocyte mRNA expression of NLRP3 and NLRC4 as markers of inflammasome activation. Study Results Our main findings were: (1) higher levels of sMAdCAM-1 (P = .002), I-FABP (P = 7.6E−11), CCL25 (P = 9.6E−05) and LBP (P = 2.6E−04) in SMI compared to HC in age, sex, BMI, CRP and freezer storage time adjusted analysis; (2) the highest levels of sMAdCAM-1 and CCL25 (both P = 2.6E−04) were observed in SCZ and I-FABP (P = 2.5E−10) and LBP (3) in AFF; and (3), I-FABP correlated with IL-18BPa levels and LBP correlated with NLRC4. Conclusions Our findings support that intestinal barrier inflammation and dysfunction in SMI could contribute to systemic inflammation through inflammasome activation.

• Sheikh, Mashhood Ahmed; O'Connell, Kevin Sean; Lekva, Tove; Szabo, Attila; Akkouh, Ibrahim Ahmed & Osete, Jordi Requena [Vis alle 31 forfattere av denne artikkelen] (2022). Systemic cell adhesion molecules in severe mental illness: Potential role of intercellular CAM-1 in linking peripheral and neuroinflammation. Biological Psychiatry. ISSN 0006-3223. 93, s. 187–196. doi: 10.1016/j.biopsych.2022.06.029. Fulltekst i vitenarkiv Vis sammendrag

  Background Cell adhesion molecules (CAMs) orchestrate leukocyte trafficking and could link peripheral and neuroinflammation in patients with severe mental illness (SMI), by promoting inflammatory and immune-mediated responses and mediating signals across blood-brain barrier. We hypothesized that CAMs would be dysregulated in SMI and evaluated plasma levels of different vascular and neural CAMs. Dysregulated CAMs in plasma were further evaluated in vivo in leukocytes and brain tissue and in vitro in induced pluripotent stem cells. Methods We compared plasma soluble levels of different vascular (VCAM-1, ICAM-1, P-SEL) and neural (JAM-A, NCAD) CAMs in circulating leukocytes in a large SMI sample of schizophrenia (SCZ) spectrum disorder (n = 895) and affective disorder (n = 737) and healthy control participants (n = 1070) controlling for age, sex, body mass index, C-reactive protein, and freezer storage time. We also evaluated messenger RNA expression of ICAM1 and related genes encoding ICAM-1 receptors in leukocytes using microarray (n = 842) and in available RNA sequencing data from the CommonMind Consortium (CMC) in postmortem samples from the dorsolateral prefrontal cortex (n = 474). The regulation of soluble ICAM-1 in induced pluripotent stem cell–derived neurons and astrocytes was assessed in patients with SCZ and healthy control participants (n = 8 of each). Results Our major findings were 1) increased soluble ICAM-1 in patients with SMI compared with healthy control participants; 2) increased ITGB2 messenger RNA, encoding the beta chain of the ICAM-1 receptor, in circulating leukocytes from patients with SMI and increased prefrontal cortex messenger RNA expression of ICAM1 in SCZ; and 3) enhanced soluble ICAM-1 release in induced pluripotent stem cell–derived neurons from patients with SCZ. Conclusions Our results support a systemic and cerebral dysregulation of soluble ICAM-1 expression in SMI and especially in patients with SCZ.

• Rokicki, Jaroslav; Kaufmann, Tobias; Lange, Ann-Marie Glasø de; Meer, Dennis van der; Bahrami, Shahram & Sartorius, Alina [Vis alle 14 forfattere av denne artikkelen] (2022). Oxytocin receptor expression patterns in the human brain across development. Neuropsychopharmacology. ISSN 0893-133X. doi: 10.1038/s41386-022-01305-5. Fulltekst i vitenarkiv
• Reindal, Lise; Nærland, Terje; Sund, Anne Mari; Glimsdal, Birgit Avseth; Andreassen, Ole & Weidle, Bernhard (2022). The co-occurrence of motor and language impairments in children evaluated for autism spectrum disorder. An explorative study from Norway. Research in Developmental Disabilities. ISSN 0891-4222. 127, s. 1–11. doi: 10.1016/j.ridd.2022.104256. Fulltekst i vitenarkiv Vis sammendrag

  Background: Current research suggest that motor and language impairments are common and closely related in infants with autism spectrum disorder (ASD). In older children, less is known about how these impairments are related to each other. Aims: The current study explored the co-occurrence and potential impact of motor and language impairments in a sample of school-aged children evaluated for ASD by Norwegian specialist health services. Methods: Besides clinical evaluation for ASD, all participants (N = 20, mean age 10.7 (SD = 3.4) years) underwent a standardized test of motor performance (MABC-2), parent report measures of current motor (DCDQ’07), language (CCC-2), and social (SRS) skills, and a caregiver interview on everyday functioning, providing an overall impairment score (DD-CGAS). Results: The majority (85%) had motor and/or structural language deficits in addition to their social impairment. All children identified with motor impairment on both measures (39%) also had structural language deficits. Better motor performance was strongly correlated with better structural language skills (r = .618, p = .006). Conclusions: Our findings suggest that co-occurring motor and structural language deficits should be anticipated and assessed when evaluating children for ASD. These deficits may need specific interventions that complement those targeting social skills deficits and other ASD core symptoms.

• Torske, Tonje; Nærland, Terje; Quintana, Daniel; Hypher, Ruth Elizabeth; Kaale, Anett & Høyland, Anne Lise [Vis alle 10 forfattere av denne artikkelen] (2022). Sex as a Moderator Between Parent Ratings of Executive Dysfunction and Social Difficulties in Children and Adolescents with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders. ISSN 0162-3257. doi: 10.1007/s10803-022-05629-5. Fulltekst i vitenarkiv Vis sammendrag

  Girls and boys might differ in autistic symptoms and associated cognitive difficulties such as executive function (EF). We investigated sex differences in the relationship between parent rated EF and autistic symptoms in 116 children and adolescents (25 girls) aged 5-19 years with an intelligence quotient above 70 and an autism spectrum disorder (ASD) diagnosis. They were rated with the behavior rating inventory of executive function (BRIEF) and the autism diagnostic interview revised (ADI-R). We found a positive association between EF and the ADI-R domains of reciprocal social interaction (p < 0.001) and communication (p = 0.001) in girls, while these relationships were small and non-significant in boys. Our results provide a greater understanding of the sex-specific characteristics of children and adolescents with ASD. Keywords: Autism diagnostic interview revised (ADI-R); Autism spectrum disorder; Behavior rating inventory of executive function (BRIEF); Executive function; Sex differences. © 2022. The Author(s).

• Johannessen, Tor Jarle; Nærland, Terje; Hope, Sigrun; Torske, Tonje; Kaale, Anett & Wirgenes, Katrine V. [Vis alle 10 forfattere av denne artikkelen] (2021). Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health. European Journal of Human Genetics. ISSN 1018-4813. s. 1–9. doi: 10.1038/s41431-021-00966-y. Fulltekst i vitenarkiv Vis sammendrag

  Clinical relevance of genetic testing is increasing in autism spectrum disorder (ASD). Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a burden. Knowledge about the families’ preferences with regard to genetic risk information is important for both health care professionals and policy makers. We investigated attitudes towards sharing information about genetic risk of ASD and knowledge about future health among parent members of the Norwegian Autism Association (N = 1455) using a questionnaire, and the relationships with parent and child characteristics, such as age, gender and ASD severity. Most preferred autonomy in deciding whom to inform about genetic risk of ASD (74.4%) and a minority supported extensive intra-familial disclosure of the genetic risk (41.1%). The majority agreed that it is an obligation to know as much as possible relevant for future health (58.0%) and only 51.7% agreed to a principle of a ‘right not to know’. In regression models, the attitudes were associated with opinions about benefits and harms of genetic testing (e.g., treatment, family planning, understanding of ASD pathology, insurance discrimination and family conflict). In sum, the findings show that most parents want to know as much as possible relevant for their children’s future health and keep their autonomy and intra-familial confidentiality about genetic risk information. Nearly half of the parents were not concerned with a “right not to know”. These attitudes can inform development of guidelines and bioethics in the age of genomic precision medicine.

• Szabo, Attila; O'Connell, Kevin Sean; Ueland, Thor; Sheikh, Mashhood Ahmed; Agartz, Ingrid & Andreou, Dimitrios [Vis alle 31 forfattere av denne artikkelen] (2021). Increased circulating IL-18 levels in severe mental disorders indicate systemic inflammasome activation. Brain, Behavior, and Immunity. ISSN 0889-1591. 99, s. 299–306. doi: 10.1016/j.bbi.2021.10.017. Fulltekst i vitenarkiv Vis sammendrag

  Background Schizophrenia (SCZ) and bipolar disorder (BD) are severe mental illnesses (SMI) that are part of a psychosis continuum, and dysregulated innate immune responses have been suggested to be involved in their pathophysiology. However, disease-specific immune mechanisms in SMI are not known yet. Recently, dyslipidemia has been linked to systemic inflammasome activation, and elevated atherogenic lipid ratios have been shown to correlate with circulating levels of inflammatory biomarkers in SMI. It is, however, not yet known if increased systemic cholesterol load leads to inflammasome activation in these patients. Methods We tested the hypothesis that patients with SCZ and BD display higher circulating levels compared to healthy individuals of key members of the IL-18 system using a large patient cohort (n = 1632; including 737 SCZ and 895 BD), and healthy controls (CTRL; n = 1070). In addition, we assessed associations with coronary artery disease risk factors in SMI, focusing on relevant inflammasome-related, neuroendocrine, and lipid markers. Results We report higher baseline levels of circulating IL-18 system components (IL-18, IL-18BPA, IL-18R1), and increased expression of inflammasome-related genes (NLRP3 and NLRC4) in the blood of patients relative to CTRL. We demonstrate a cholesterol dyslipidemia pattern in psychotic disorders, and report correlations between levels of blood cholesterol types and the expression of inflammasome system elements in SMI. Conclusions Based on these results, we suggest a role for inflammasome activation/dysregulation in SMI. Our findings further the understanding of possible underlying inflammatory mechanisms and may expose important therapeutic targets in SMI.

• Solbakken, Gro; Løseth, Sissel; Johanessen, Anne Froholdt; Eikeland, Torunn; Nærland, Terje & Frich, Jan C [Vis alle 8 forfattere av denne artikkelen] (2021). Pain in adult myotonic dystrophy type 1: relation to function and gender. BMC Neurology. 21(1), s. 1–11. doi: 10.1186/s12883-021-02124-9. Fulltekst i vitenarkiv Vis sammendrag

  <i>Background</i> - Pain is prevalent in myotonic dystrophy 1 (DM1). This study investigated whether CTG repeat size, disease duration, BMI and motor and psychological function were related to pain in adult patients with DM1, and if there were gender differences regarding intensity and location of pain.<br><br> <i>Method</i> - Cross-sectional design. Pain was investigated in 50 genetically confirmed DM1 patients by combining clinical assessment and self-reports of pain intensity and locations. Pain scoring results were related to CTG size, disease duration, muscle strength, walking capacity measured by 6-min walk test, activity of daily life by Katz ADL Index, respiratory function by Forced Vital Capacity and BMI. In addition, the degree of reported pain was related to Quality of life measured by WHOQOL-BREF; fatigue was measured by Fatigue severity scale; psychological functions were measured by Beck Depression Inventory, Beck Anxiety Inventory, IQ and Autism spectrum Quotient.<br><br> <i>Results</i> - Pain was reported in 84% of the patients and was significantly correlated with CTG size (<i>r </i>= 0.28 <i>p</i> = 0.050), disease duration (<i>r</i> = 0.38 <i>p</i> = 0.007), quality of life (<i>r</i> = − 0.37 <i>p</i> = 0.009), fatigue (<i>r</i> = 0.33 <i>p</i> = 0.02) and forced vital capacity (<i>r</i> = − 0.51, <i>p</i> = 0.005). Significant gender differences, with higher scores for females, were documented. In male subjects the number of pain locations was significantly correlated with quality of life and the autism quotient. In females, pain intensity was significantly correlated with activity, respiratory function and BMI.<br><br> <i>Conclusions</i> - Pain in DM1 was prevalent, with a strong association to lung function and other aspects of the disease. Significant gender differences were present for pain intensity and number of pain locations. How pain was related to other symptoms differed between male and female subjects. Our findings highlight the importance of assessments of pain in DM1 patients.

• Nag, Heidi; Nærland, Terje & Øverland, Klara (2021). The Importance of School Leadership Support when Working with Students with Smith-Magenis Syndrome–A Q Methodology Study. International Journal of Disability, Development and Education. ISSN 1034-912X. doi: 10.1080/1034912X.2021.1888893. Fulltekst i vitenarkiv Vis sammendrag

  Smith-Magenis syndrome (SMS) is a rare genetic syndrome. Students with SMS have a neurobehavioural phenotype which has been characterised as challenging for both parents and teachers. Challenging behaviour often has a negative impact on the person’s learning ability and is a hindrance in the learning environment. Challenging behaviour also impacts on teachers in terms of stress and burnout. The aim of this study was to explore what type of support the school staff needs in order to handle the challenging behaviour and academic development of students with SMS using Q methodology. Fourteen staff members working with students with SMS in Norway participated in the study by sorting 40 statements according to the Q methodology. The sorting was analysed based on the by-person factor analysis. Four viewpoints were identified as follows: 1) In control, 2) struggling, 3) Strugglers relying on parents, and 4) Support dependent. Several consensus statements were associated with the academic work of the students with SMS. The consensus statements regarding academic work showed that this is not a priority for these students. Support from the school’s leadership and colleagues is imperative, in addition to cooperation from parents, to provide safe and productive school environments for children with SMS.

• Engh, John; Ueland, Thor; Agartz, Ingrid; Andreou, Dimitrios; Aukrust, Pål & Boye, Birgitte [Vis alle 27 forfattere av denne artikkelen] (2021). Plasma Levels of the Cytokines B Cell-Activating Factor (BAFF) and A Proliferation-Inducing Ligand (APRIL) in Schizophrenia, Bipolar, and Major Depressive Disorder: A Cross Sectional, Multisite Study. Schizophrenia Bulletin. ISSN 0586-7614. 48(1), s. 37–46. doi: 10.1093/schbul/sbab106. Fulltekst i vitenarkiv Vis sammendrag

  Background Immune dysfunction has been implicated in the pathogenesis of schizophrenia and other nonaffective psychosis (SCZ), bipolar spectrum disorder (BIP) and major depressive disorder (MDD). The cytokines B cell-activating factor (BAFF) and A proliferation-inducing ligand (APRIL) belong to the tumor necrosis factor (TNF) super family and are essential in orchestrating immune responses. Abnormal levels of BAFF and APRIL have been found in autoimmune diseases with CNS affection. Methods We investigated if plasma levels of BAFF and APRIL differed between patients with SCZ, BIP, and MDD with psychotic symptoms (n = 2009) and healthy control subjects (HC, n = 1212), and tested for associations with psychotic symptom load, controlling for sociodemographic status, antipsychotic and other psychotropic medication, smoking, body-mass-index, and high sensitivity CRP. Results Plasma APRIL level was significantly lower across all patient groups compared to HC (P < .001; Cohen’s d = 0.33), and in SCZ compared to HC (P < .001; d = 0.28) and in BIP compared to HC (P < .001; d = 0.37). Lower plasma APRIL was associated with higher psychotic symptom load with nominal significance (P = .017), but not with any other clinical characteristics. Plasma BAFF was not significantly different across patient groups vs HC, but significantly higher in BIP compared to HC (P = .040; d = 0.12) and SCZ (P = .027; d = 0.10). Conclusions These results show aberrant levels of BAFF and APRIL and association with psychotic symptoms in patients with SCZ and BIP. This suggest that dysregulation of the TNF system, mediated by BAFF and APRIL, is involved in the pathophysiology of psychotic disorders.

• Andreou, Dimitrios; Steen, Nils Eiel; Jørgensen, Kjetil Nordbø; Smelror, Runar; Wedervang-Resell, Kirsten & Nerland, Stener [Vis alle 25 forfattere av denne artikkelen] (2021). Lower circulating neuron-specific enolase concentrations in adults and adolescents with severe mental illness. Psychological Medicine. ISSN 0033-2917. s. 1–10. doi: 10.1017/S0033291721003056. Fulltekst i vitenarkiv Vis sammendrag

  Background Both neurodegenerative and neurodevelopmental abnormalities have been suggested to be part of the etiopathology of severe mental illness (SMI). Neuron-specific enolase (NSE), mainly located in the neuronal cytoplasm, may indicate the process as it is upregulated after neuronal injury while a switch from non-neuronal enolase to NSE occurs during neuronal maturation. Methods We included 1132 adult patients with SMI [schizophrenia (SZ) or bipolar spectrum disorders], 903 adult healthy controls (HC), 32 adolescent patients with SMI and 67 adolescent HC. Plasma NSE concentrations were measured by enzyme immunoassay. For 842 adults and 85 adolescents, we used total grey matter volume (TGMV) based on T1-weighted magnetic resonance images processed in FreeSurfer v6.0. We explored NSE case-control differences in adults and adolescents separately. To investigate whether putative case-control differences in NSE were TGMV-dependent we controlled for TGMV. Results We found significantly lower NSE concentrations in both adult (p < 0.001) and adolescent patients with SMI (p = 0.007) compared to HC. The results remained significant after controlling for TGMV. Among adults, both patients with SZ spectrum (p < 0.001) and bipolar spectrum disorders (p = 0.005) had lower NSE than HC. In both patient subgroups, lower NSE levels were associated with increased symptom severity. Among adults (p < 0.001) and adolescents (p = 0.040), females had lower NSE concentrations than males. Conclusion We found lower NSE concentrations in adult and adolescent patients with SMI compared to HC. The results suggest the lack of progressive neuronal injury, and may reflect abnormal neuronal maturation. This provides further support of a neurodevelopmental rather than a neurodegenerative mechanism in SMI.

• Reindal, Lise; Nærland, Terje; Weidle, Bernhard; Lydersen, Stian; Andreassen, Ole Andreas & Sund, Anne Mari (2021). Structural and Pragmatic Language Impairments in Children Evaluated for Autism Spectrum Disorder (ASD). Journal of Autism and Developmental Disorders. ISSN 0162-3257. 53(2), s. 701–719. doi: 10.1007/s10803-020-04853-1. Fulltekst i vitenarkiv Vis sammendrag

  Pragmatic language impairments are common in neurodevelopmental disorders, especially in autism spectrum disorder (ASD). The relationship between structural language skills and pragmatic competence in children with autistic symptoms, however, is largely unknown. We investigated this relationship based on the Children’s Communication Checklist-2 and early language delay among children (N = 177, 19% females) clinically evaluated for ASD, differentiated into ASD (n = 148) and non-ASD (n = 29). Structural language deficits were common and associated with reduced pragmatic competence in both groups. Pragmatic language impairments were most profound in children with ASD. Early language delay and structural language deficits were less common in females. Our findings suggest that assessment of structural language skills should be included in the evaluation of children with suspected ASD.

• Hope, Sigrun; Nærland, Terje; Høyland, Anne Lise; Torske, Tonje; Malt, Eva & Abrahamsen, Tore G [Vis alle 16 forfattere av denne artikkelen] (2020). Higher vitamin B12 levels in neurodevelopmental disorders than in healthy controls and schizophrenia A comparison among participants between 2 and 53 years. The FASEB Journal. ISSN 0892-6638. 34(6), s. 8114–8124. doi: 10.1096/fj.201900855RRR. Fulltekst i vitenarkiv Vis sammendrag

  Recent studies suggest that both high and low levels of vitamin B12 (vitB12) may have negative health impacts. We measured VitB12 in patients with the Neurodevelopmental disorders (ND) (n = 222), comprised of Autism Spectrum Disorders, specific Developmental disorders, and Intellectual Disability (aged 2‐53 years), schizophrenia (n = 401), and healthy controls (HC) (n = 483). Age‐and gender‐adjusted vitB12 z‐scores were calculated by comparisons with a reference population (n = 76 148). We found higher vitB12 in ND (median 420 pmol/L, mean z‐score: 0.30) than in HC (316 pmol/L, z‐score: 0.06, P < .01) and schizophrenia (306 pmol/L, z‐score: −0.02, P < .001), which was significant after adjusting for age, gender, vitB12 supplement, folate, hemoglobin, leukocytes, liver, and kidney function (P < .02). In ND, 20% (n = 44) had vitB12 above 650 pmol/L, and 1% (n = 3) had below 150 pmol/L (common reference limits). In 6.3% (n = 14) of ND, vitB12 was above 2SD of mean in the age‐and gender‐adjusted reference population, which was more frequent than in HC (n = 8, 1.6%), OR: 4.0, P = .001. Low vitB12 was equally frequent as in HC, and vitB12 z‐scores were equal across the age groups. To conclude, vitB12 was higher in ND than in HC and schizophrenia, suggesting a specific feature of ND, which warrants further studies to investigate the underlying mechanisms.

• Hansen, Berit M Hjelde; Juvodden, Hilde Therese; Nordstrand, Sebjørg Elizabeth Hesla; Viste, Rannveig; Thorsby, Per Medbøe & Swanson, David [Vis alle 9 forfattere av denne artikkelen] (2020). High prevalence of ADHD symptoms in unmedicated youths with post-H1N1 narcolepsy type 1. Sleep Medicine. ISSN 1389-9457. 75, s. 171–180. doi: 10.1016/j.sleep.2020.06.014. Fulltekst i vitenarkiv Vis sammendrag

  Objectives To characterize attention deficit-hyperactivity disorder (ADHD) symptoms in unmedicated post-H1N1 narcolepsy type 1 (NT1) youths, and explore associations between ADHD symptoms and the narcolepsy phenotype. Methods A total of 50 consecutively enrolled post-H1N1 NT1 youths (7–20 years, 62% females, 98% HLA-DQB1∗06:02-positive, 98% CSF hypocretin-1 deficient, 88% vaccinated) were assessed after two weeks off medication for ADHD (ADHD diagnosis pre/post-narcolepsy, parent-rated ADHD symptoms) and narcolepsy-phenotyped (semi-structured interview, Stanford Sleep Questionnaire, Epworth Sleepiness Scale, polysomnography (PSG), Multiple Sleep Latency Test (MSLT)). Results In sum, 26 (52%) and 15 (30%) of participants had ADHD symptoms above and below the clinical significant cut-off, respectively, while 9 (18%) had no ADHD symptoms. High values were found for ADHD total score (mean (SD), 17.9 (9.5)) and ADHD subscores (inattentive score, 11.0 (6.3); hyperactive/impulsivity score, 6.9 (4.7)). These were significantly higher than previously reported in a mainly medicated narcolepsy cohort (p < 0.0001). Age, gender and disease duration did not influence scores. Two participants (4%) had ADHD diagnosis prior to narcolepsy onset. ADHD symptoms were correlated with parent-rated, but not with patient rated ESS scores, objective sleepiness (mean sleep latency), sleep fragmentation (sleep stage shift index, awakening index), or CSF hypocretin-1 level. Conclusion Comorbid ADHD symptoms were more prevalent in unmedicated post-H1N1 NT1 youths than previously reported in mainly medicated pediatric narcolepsy cohorts. The high prevalence was not due to pre-existing ADHD and generally not correlated with core narcolepsy sleep/wake phenotype characteristics, indicating that the ADHD symptoms were not a direct consequence of disturbed sleep or daytime sleepiness.

• Nag, Heidi Elisabeth; Øverland, Klara & Nærland, Terje (2020). School Staff’s Experiences and Coping Related to the Challenging Behaviour of Children with Smith-Magenis Syndrome in Schools: A Q Methodological Study. International Journal of Disability, Development and Education. ISSN 1034-912X. doi: 10.1080/1034912X.2020.1780199. Fulltekst i vitenarkiv Vis sammendrag

  The aim of this study is to use Q methodology to explore how school staff experience the behaviours of children with Smith-Magenis Syndrome (SMS) in school and how they manage working with these children. Q methodology utilises by-person factor analysis to investigate subjectivity. Fourteen school staff of students with SMS in Norway participated and sorted 40 statements according to their own experience working with a student with SMS. Two distinct viewpoints were revealed, namely, 1) Managing challenging aggressive and self-injury behaviours in school where school staff experienced a range of challenging behaviours, especially aggressive behaviours. 2) Struggling with intense non-physical challenging behaviours in school where school staff experienced behaviours such as the students being very intense, craving attention and pushing buttons. In conclusion, there must be a greater emphasis on education and advising and supporting school staff’s work with the non-physical challenging behaviours aspects of teaching children with SMS, as well as a continued focus on challenging aggressive behaviours.

• Nag, Heidi Elisabeth & Nærland, Terje (2020). Age-related changes in behavioural and emotional problems in Smith–Magenis syndrome measured with the Developmental Behavior Checklist. Journal of Intellectual Disabilities. ISSN 1744-6295. doi: 10.1177/1744629519901056. Fulltekst i vitenarkiv Vis sammendrag

  Smith–Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age, gender, adaptive behaviour and autism symptomatology. Twenty-eight persons with SMS were represented by their parents in this study. DBC Total scores are reduced with age, but they still show a mean that is clearly above the cut-off of 46. The differences between the age groups <9 years and 9–17 years (p = 0.024) and between the age groups <9 years and >18 years (p = 0.007) are significant. We found a significant decrease in behavioural and emotional problems with age in SMS. We did not find a relationship between adapted behaviour and communication and behavioural and emotional problems.

• Rokicki, Jaroslav; Wolfers, Thomas; Nordhøy, Wibeke; Tesli, Natalia; Quintana, Daniel & Alnæs, Dag [Vis alle 20 forfattere av denne artikkelen] (2020). Multimodal imaging improves brain age prediction and reveals distinct abnormalities in patients with psychiatric and neurological disorders. Human Brain Mapping. ISSN 1065-9471. 42(6), s. 1714–1726. doi: 10.1002/hbm.25323. Fulltekst i vitenarkiv Vis sammendrag

  The deviation between chronological age and age predicted using brain MRI is a putative marker of overall brain health. Age prediction based on structural MRI data shows high accuracy in common brain disorders. However, brain aging is complex and heterogenous, both in terms of individual differences and the underlying biological processes. Here, we implemented a multimodal model to estimate brain age using different combinations of cortical area, thickness and sub‐cortical volumes, cortical and subcortical T1/T2‐weighted ratios, and cerebral blood flow (CBF) based on arterial spin labeling. For each of the 11 models we assessed the age prediction accuracy in healthy controls (HC, n = 750) and compared the obtained brain age gaps (BAGs) between age‐matched subsets of HC and patients with Alzheimer's disease (AD, n = 54), mild (MCI, n = 90) and subjective (SCI, n = 56) cognitive impairment, schizophrenia spectrum (SZ, n = 159) and bipolar disorder (BD, n = 135). We found highest age prediction accuracy in HC when integrating all modalities. Furthermore, two‐group case–control classifications revealed highest accuracy for AD using global T1‐weighted BAG, while MCI, SCI, BD and SZ showed strongest effects in CBF‐based BAGs. Combining multiple MRI modalities improves brain age prediction and reveals distinct deviations in patients with psychiatric and neurological disorders. The multimodal BAG was most accurate in predicting age in HC, while group differences between patients and HC were often larger for BAGs based on single modalities. These findings indicate that multidimensional neuroimaging of patients may provide a brain‐based mapping of overlapping and distinct pathophysiology in common disorders.

• Nag, Heidi Elisabeth; Hoxmark, Lise Beate & Nærland, Terje (2019). Parental experiences with behavioural problems in Smith–Magenis syndrome: The need for syndrome-specific competence. Journal of Intellectual Disabilities. ISSN 1744-6295. 23(3), s. 359–372. doi: 10.1177/1744629519847375. Fulltekst i vitenarkiv Vis sammendrag

  The experience of having a rare disorder was summarised in a large study as ‘falling outside the vast field of knowledge of the professionals’. Parents (31 mothers and 17 fathers) of 32 persons with Smith–Magenis syndrome (SMS) participated in this study. A phenomenological approach was used to analyse the data into topics and themes. Four themes emerged: behavioural challenges displayed, parents’ strategies for meeting the challenging behaviours, parents’ experiences of their own competence and parents’ experiences of professionals’ competence and understanding regarding children with SMS and their behaviour challenges. We found that parents of children with SMS experience that they are exposed to severe challenging behaviours from their child. The parents believe that they experience more misunderstandings with professionals and that the challenging behaviours increase because there are some specific characteristics of SMS that professionals are not aware of or do not consider in their support services.

• Reindal, Lise; Nærland, Terje; Weidle, Bernhard; Lydersen, Stian; Andreassen, Ole Andreas & Sund, Anne Mari (2019). Age of First Walking and Associations with Symptom Severity in Children with Suspected or Diagnosed Autism Spectrum Disorder. Journal of Autism and Developmental Disorders. ISSN 0162-3257. s. 1–17. doi: 10.1007/s10803-019-04112-y. Fulltekst i vitenarkiv Vis sammendrag

  Age of first walking (AOW) is reported to be later in autism spectrum disorder (ASD) compared with typical development. However, the relationship between AOW and variations in ASD symptoms across different neurodevelopmental disorders is largely unknown. This study investigated AOW and its association with autism symptom severity in a large sample of children (N = 490, 23% females) clinically evaluated for suspected ASD, differentiated into ASD (n = 376) and non-ASD (n = 114) diagnoses. Children with ASD achieved independent walking significantly later than children with non-ASD diagnoses. AOW was significantly associated with ASD symptom severity, and females had a non-significant later AOW. The current findings suggest that in cases with delayed AOW, ASD should be considered as an actual differential diagnosis, perhaps particularly in girls.

• Torske, Tonje; Nærland, Terje; Bettella, Francesco; Bjella, Thomas; Malt, Eva Albertsen & Høyland, Anne Lise [Vis alle 9 forfattere av denne artikkelen] (2019). Autism spectrum disorder polygenic scores are associated with every day executive function in children admitted for clinical assessment. Autism Research. ISSN 1939-3792. 13(2). doi: 10.1002/aur.2207. Fulltekst i vitenarkiv Vis sammendrag

  Autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDs) are behaviorally defined disorders with overlapping clinical features that are often associated with higher-order cognitive dysfunction, particularly executive dysfunction. Our aim was to determine if the polygenic score (PGS) for ASD is associated with parent-reported executive dysfunction in everyday life using the Behavior Rating Inventory of Executive Function (BRIEF). Furthermore, we investigated if PGS for general intelligence (INT) and attention deficit/hyperactivity disorder (ADHD) also correlate with BRIEF. We included 176 children, adolescents and young adults aged 5–22 years with full-scale intelligence quotient (IQ) above 70. All were admitted for clinical assessment of ASD symptoms and 68% obtained an ASD diagnosis. We found a significant difference between low and high ASD PGS groups in the BRIEF behavior regulation index (BRI) (P = 0.015, Cohen’s d = 0.69). A linear regression model accounting for age, sex, full-scale IQ, Social Responsiveness Scale (SRS) total score, ASD, ADHD and INT PGS groups as well as genetic principal components, significantly predicted the BRI score; F(11,130) = 8.142, P < 0.001, R2 = 0.41 (unadjusted). Only SRS total (P < 0.001), ASD PGS 0.1 group (P = 0.018), and sex (P = 0.022) made a significant contribution to the model. This suggests that the common ASD risk gene variants have a stronger association to behavioral regulation aspects of executive dysfunction than ADHD risk or INT variants in a clinical sample with ASD symptoms. Autism Res 2019, 00: 1–14. © 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. Lay Summary: People with autism spectrum disorder (ASD) often have difficulties with higher-order cognitive processes that regulate thoughts and actions during goal-directed behavior, also known as executive function (EF). We studied the association between genetics related to ASD and EF and found a relation between high polygenic score (PGS) for ASD and difficulties with behavior regulation aspects of EF in children and adolescents under assessment for ASD. Furthermore, high PGS for general intelligence was related to social problems. Keywords: autism spectrum disorder; polygenic score; executive function; attention deficit/hyperactivity disorder; behavior rating inventory of executive function

• Høyland, Anne Lise; Nærland, Terje; Engstrøm, Morten; Torske, Tonje; Lydersen, Stian & Andreassen, Ole Andreas (2019). Atypical event-related potentials revealed during the passive parts of a Go-NoGo task in autism spectrum disorder: a case-control study. Molecular Autism. 10(10). doi: 10.1186/s13229-019-0259-3. Fulltekst i vitenarkiv Vis sammendrag

  Background The core features of autism spectrum disorder (ASD) are easily recognizable in non-structured clinical and real-life situations. The features are often difficult to capture in structured laboratory settings, and the results from tests do not necessarily reflect symptom severity. We investigated neurophysiological processing in the passive parts of a cued Go-NoGo task, using the active parts of the test as a comparator. Methods Forty-nine adolescents diagnosed with ASD and 49 typically developing (TD) adolescents (age 12–21 years) were included. Daily life executive function was assessed with the Behavior Rating Inventory of Executive Function (BRIEF). We applied a visual cued Go-NoGo task and recorded event-related potentials (ERPs). We investigated occipital N1, a component related to early perception of visual stimuli, and P3a, a fronto-central component related to switching of attention, in the passive and active parts of the test. Results During the passive parts, the ASD group had statistically significantly longer N1 latency (p < 0.001, Cohens d = 0.75) and enhanced amplitude of P3a (p = 0.002, Cohens d = 0.64) compared to the TD, while no significant differences were observed in the active parts. Both components correlated significantly with the Behavioral Regulation Index of the BRIEF (partial correlation r = 0.35, p = 0.003). Conclusion Delayed N1 response, indicating altered visual perception, and enhanced P3a response, indicating increased neural activation related to attention allocation, were found during the passive parts of a Go-NoGo task in ASD participants. These abnormal ERP signals in the non-structured settings were associated with everyday executive function, suggesting that neurophysiolocal measures related to atypical control of alertness and “hyper-awareness” underlie daily life dysfunction in ASD. Assessments during passive settings have a potential to reveal core neurobiological substrates of ASD.

• Grove, Jakob; Ripke, Stephan; Als, Thomas D.; Mattheisen, Manuel; Walters, Raymond K. & Won, Hyejung [Vis alle 76 forfattere av denne artikkelen] (2019). Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics. ISSN 1061-4036. 51, s. 431–444. doi: 10.1038/s41588-019-0344-8. Fulltekst i vitenarkiv Vis sammendrag

  Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping Genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared With other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD

• Lee, Phil H.; Antilla, Verneri; Won, Hyejung; Feng, Yen-Chen A.; Rosenthal, Jacob & Zhu, Zhaozhong [Vis alle 66 forfattere av denne artikkelen] (2019). Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell. ISSN 0092-8674. 179(7), s. 1469–1482. doi: 10.1016/j.cell.2019.11.020. Fulltekst i vitenarkiv Vis sammendrag

  Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed a meta-analysis of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders identifying three groups of inter-related disorders. We detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning in the second trimester prenatally, and play prominent roles in a suite of neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.

• Torske, Tonje; Nærland, Terje; Øie, Merete Glenne; Stenberg, Nina & Andreassen, Ole Andreas (2018). Metacognitive aspects of executive function are highly associated with social functioning on parent-rated measures in children with Autism Spectrum Disorder. Frontiers in Behavioral Neuroscience. 11. doi: 10.3389/fnbeh.2017.00258. Fulltekst i vitenarkiv Vis sammendrag

  Autism Spectrum Disorder (ASD) is characterized by social dysfunction. Even though executive dysfunction has been recognized as important in understanding ASD, the findings are inconsistent. This might be due to different definitions of executive function (EF), which part of EF that has been studied, structured vs. unstructured tasks, inclusion of different moderators (age, IQ, sex) and different diagnostic categories within the spectrum. The main finding is that people with ASD have more EF difficulties than normal controls and more difficulties on open-end tasks than on structured cognitive tasks. Since some EF difficulties may not be observable in a laboratory setting, informant measures might have higher ecological validity than neuropsychological tests. Evidence suggests that executive dysfunctions are associated with social impairments, but few studies have investigated the details of this relationship, and it remains unclear what types of EF deficits are relevant for the social problems of individuals with ASD. Here we investigated which EF domains were associated with various domains of social function on parent-rated measures. A total of 86 children and adolescents with a diagnosis of ASD were included and tested for general cognitive abilities. Parents completed the Behavior Rating Inventory of Executive Function (BRIEF) and the Social Responsiveness Scale (SRS). Multiple regression analysis revealed significant associations between SRS scores and age, sex, total IQ and the BRIEF indexes. The Metacognition Index from the BRIEF added significantly to the prediction of the SRS total score and the subscales Social Communication, Social Motivation and Autistic Mannerisms. The findings suggest that metacognitive aspects of EF are of particular importance for social abilities in children and adolescents with ASD. Earlier research has shown that typically developing (TD) children have a different relationship between EF and social function than children with ASD. They found that in TD children the EF domain related to behavioral regulation was most important to social function. The results from the current study may have implications for understanding the cognitive components of the social problems that define ASD, and may be relevant in developing more targeted clinical EF interventions related to core ASD dysfunctions.

• Bakke, Kristin Andersen; Howlin, Patricia; Retterstøl, Lars; Kanavin, Øivind J.; Heiberg, Arvid & Nærland, Terje (2018). Effect of epilepsy on autism symptoms in Angelman syndrome. Molecular Autism. 9(2). doi: 10.1186/s13229-017-0185-1. Fulltekst i vitenarkiv Vis sammendrag

  Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate. Angelman syndrome (AS) is presented as a suitable disease model to explore this association. Methods: Data from medical records and questionnaires were used to examine the association between age of epilepsy onset, autism symptoms, genetic aberration and communication level. Forty-eight participants had genetically verified AS (median age 14.5 years; range 1–57 years). A measure of autism symptoms (the Social Communication Questionnaire; SCQ) was completed for 38 individuals aged ≥ 4 years. Genetic cause was subgrouped into deletion and other genetic aberrations of the 15q11-q13 area. The number of signs used to communicate (< 20 sign and ≥ 20 signs) was used as a measure of nonverbal communication. Results: Mean age of epilepsy onset was 3.0 years (range 3 months–7.8 years). Mean SCQ score for individuals without epilepsy was 13.6 (SD = 6.7) and with epilepsy 17.0 (SD = 5.6; p = 0.17); 58% used fewer than 20 signs to communicate. There were no age differences between groups according to presence of epilepsy, level of nonverbal communication or type of genetic aberration. SCQ scores were higher in individuals with the deletion than in those with other genetic aberrations (18.7 vs 10.8 p = 0.008) and higher in the group who used < 20 signs to communicate (19.4 vs 14.1 p = 0.007). Age of epilepsy onset was correlated with SCQ (r = − 0.61, p < 0.001). Multiple regression showed that age of seizure onset was significantly related to SCQ score (β = − 0.90; p = 0.006), even when the type of genetic abnormality was controlled (R2 = 0.53; F = 10.7; p = 0.001). Conclusions: The study provides support for the notion that seizures themselves contribute more to autism symptoms than expected from the underlying genetic pathology alone. The study demonstrates how a rare genetic syndrome such as Angelman syndrome may be used to study the relation between epilepsy and autism symptomatology.

• Nag, Heidi Elisabeth; Nordgren, Ann; Anderlid, Britt-Marie & Nærland, Terje (2018). Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome. Molecular Autism. 9(1). doi: 10.1186/s13229-017-0184-2. Fulltekst i vitenarkiv Vis sammendrag

  Background: A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD). Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population. Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2 or a mutation on the retinoic acid induced 1 gene. The disorder is characterised by intellectual disability, multiple congenital anomalies, obesity, neurobehavioural abnormalities and a disrupted circadian sleep-wake pattern. Methods: Parents of 28 persons with SMS between 5 and 50 years old participated in this study. A total of 12 of the persons with SMS were above the age of 18 at the time of the study. A total of 11 came from Sweden and 17 were from Norway. We collected information regarding the number of autism spectrum symptoms using the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS). Adaptive behaviour was also measured using the Vineland Adaptive Behavior Scale II. The level of intellectual disability was derived from a review of the medical chart. Results: We found significant gender differences in ASD symptomatology using the SCQ and SRS questionnaires. We found approximately three females per male above the SCQ cutoff. The same differences were not found in the intellectual level and adaptive behaviour or for behavioural and emotional problems. Gender had an independent contribution in a regression model predicting the total SCQ score, and neither the Vineland Adaptive Behavior Scale II nor the Developmental Behaviour Checklist had an independent contribution to the SCQ scores. Conclusion: We found a clear reversed gender difference in ASD symptomatology in persons with SMS. This may be relevant in the search for female protective factors assumed to explain the male bias in ASD.

• Munkhaugen, Ellen Kathrine; Torske, Tonje; Gjevik, Elen; Nærland, Terje; Pripp, Are Hugo & Diseth, Trond H (2017). Individual characteristics of students with autism spectrum disorders and school refusal behavior. Autism. ISSN 1362-3613. 23(2), s. 413–423. doi: 10.1177/1362361317748619. Fulltekst i vitenarkiv
• Høyland, Anne Lise; Nærland, Terje; Engstrøm, Morten; Lydersen, Stian & Andreassen, Ole Andreas (2017). The relation between face-emotion recognition and social function in adolescents with autism spectrum disorders: A case control study. PLOS ONE. 12(10), s. 1–16. doi: 10.1371/journal.pone.0186124. Fulltekst i vitenarkiv Vis sammendrag

  An altered processing of emotions may contribute to a reduced ability for social interaction and communication in autism spectrum disorder, ASD. We investigated how face-emotion recognition in ASD is different from typically developing across adolescent age groups. Fifty adolescents diagnosed with ASD and 49 typically developing (age 12–21 years) were included. The ASD diagnosis was underpinned by parent-rated Social Communication Questionnaire. We used a cued GO/ NOGO task with pictures of facial expressions and recorded reaction time, intra-individual variability of reaction time and omissions/commissions. The Social Responsiveness Scale was used as a measure of social function. Analyses were conducted for the whole group and for young (< 16 years) and old (≥ 16 years) age groups. We found no significant differences in any task measures between the whole group of typically developing and ASD and no significant correlations with the Social Responsiveness Scale. However, there was a non-significant tendency for longer reaction time in the young group with ASD (p = 0.099). The Social Responsiveness Scale correlated positively with reaction time (r = 0.30, p = 0.032) and intra-individual variability in reaction time (r = 0.29, p = 0.037) in the young group and in contrast, negatively in the old group (r = -0.23, p = 0.13; r = -0.38, p = 0.011, respectively) giving significant age group interactions for both reaction time (p = 0.008) and intra-individual variability in reaction time (p = 0.001). Our findings suggest an age-dependent association between emotion recognition and severity of social problems indicating a delayed development of emotional understanding in ASD. It also points towards alterations in top-down attention control in the ASD group. This suggests novel disease-related features that should be investigated in more details in experimental settings.

• Quintana, Daniel; Westlye, Lars Tjelta; Hope, Sigrun; Nærland, Terje; Elvsåshagen, Torbjørn & Dørum, Erlend Solberg [Vis alle 16 forfattere av denne artikkelen] (2017). Dose-dependent social-cognitive effects of intranasal oxytocin delivered with novel Breath Powered device in adults with autism spectrum disorder: a randomized placebo-controlled double-blind crossover trial. Translational Psychiatry. e1136(7), s. 1–9. doi: 10.1038/tp.2017.103. Fulltekst i vitenarkiv
• Johannessen, Tor Jarle; Nærland, Terje; Hope, Sigrun; Torske, Tonje; Høyland, Anne Lise & Strohmaier, Jana [Vis alle 10 forfattere av denne artikkelen] (2017). Parents’ Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder—Data from a Norwegian Sample. International Journal of Molecular Sciences. ISSN 1661-6596. 18(5), s. 1–14. doi: 10.3390/ijms18051078. Fulltekst i vitenarkiv Vis sammendrag

  Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents’ attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents’ attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child’s ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49–67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child’s future and cause family conflicts. Parents against CGT (9%) were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children’s ASD diagnosis had a weak positive association with parent’s positive attitudes to CGT (p-values range from <0.001 to 0.975). Parents prefer that CGT is offered to those having a child with ASD (65%), when the child’s development deviates from normal (48%), or before pregnancy (36%). A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.

• Høyland, Anne Lise; Øgrim, Kjell Geir; Lydersen, Stian; Hope, Sigrun; Engstrøm, Morten & Torske, Tonje [Vis alle 8 forfattere av denne artikkelen] (2017). Event-related potentials in a cued Go-NoGo task associated with executive functions in adolescents with autism spectrum disorder; A case-control study. Frontiers in Neuroscience. ISSN 1662-4548. 11:393(393), s. 1–13. doi: 10.3389/fnins.2017.00393. Fulltekst i vitenarkiv Vis sammendrag

  Executive functions are often affected in autism spectrum disorders (ASD). The underlying biology is however not well known. In the DSM-5, ASD is characterized by difficulties in two domains: Social Interaction and Repetitive and Restricted Behavior, RRB. Insistence of Sameness is part of RRB and has been reported related to executive functions. We aimed to identify differences between ASD and typically developing (TD) adolescents in Event Related Potentials (ERPs) associated with response preparation, conflict monitoring and response inhibition using a cued Go-NoGo paradigm. We also studied the effect of age and emotional content of paradigm related to these ERPs. We investigated 49 individuals with ASD and 49 TD aged 12–21 years, split into two groups below (young) and above (old) 16 years of age. ASD characteristics were quantified by the Social Communication Questionnaire (SCQ) and executive functions were assessed with the Behavior Rating Inventory of Executive Function (BRIEF), both parent-rated. Behavioral performance and ERPs were recorded during a cued visual Go-NoGo task which included neutral pictures (VCPT) and pictures of emotional faces (ECPT). The amplitudes of ERPs associated with response preparation, conflict monitoring, and response inhibition were analyzed. The ASD group showed markedly higher scores than TD in both SCQ and BRIEF. Behavioral data showed no case-control differences in either the VCPT or ECPT in the whole group. While there were no significant case-control differences in ERPs from the combined VCPT and ECPT in the whole sample, the Contingent Negative Variation (CNV) was significantly enhanced in the old ASD group (p = 0.017). When excluding ASD with comorbid ADHD we found a significantly increased N2 NoGo (p = 0.016) and N2-effect (p = 0.023) for the whole group. We found no case-control differences in the P3-components. Our findings suggest increased response preparation in adolescents with ASD older than 16 years and enhanced conflict monitoring in ASD without comorbid ADHD during a Go-NoGo task. The current findings may be related to Insistence of Sameness in ASD. The pathophysiological underpinnings of executive dysfunction should be further investigated to learn more about how this phenomenon is related to core characteristics of ASD.

• Kalandadze, Tamar; Norbury, Courtenay; Nærland, Terje & Næss, Kari-Anne Bottegaard (2016). Figurative language comprehension in individuals with autism spectrum disorder: A meta-analytic review. Autism. ISSN 1362-3613. 22(2), s. 99–117. doi: 10.1177/1362361316668652. Fulltekst i vitenarkiv
• Solbakken, Gro; Ørstavik, Kristin; Hagen, Tormod; Dietrichs, Espen & Nærland, Terje (2016). Major involvement of trunk muscles in myotonic dystrophy type 1. Acta Neurologica Scandinavica. ISSN 0001-6314. 134, s. 463–473. doi: 10.1111/ane.12565. Fulltekst i vitenarkiv
• Johannessen, Tor Jarle; Nærland, Terje; Bloss, Cinnamon S.; Rietschel, Marcella; Stohmaier, Jana & Gjevik, Elen [Vis alle 9 forfattere av denne artikkelen] (2016). Parents' attitudes toward genetic research in autism spectrum disorder. Psychiatric Genetics. ISSN 0955-8829. 26(2), s. 74–80. doi: 10.1097/YPG.0000000000000121. Fulltekst i vitenarkiv
• Nærland, Terje; Bakke, Kristin Andersen; Storvik, Sylvi; Warner, Georgina & Howlin, Patricia (2016). Age and gender-related differences in emotional and behavioural problems and autistic features in children and adolescents with Down syndrome: a survey-based study of 674 individuals. Journal of Intellectual Disability Research. ISSN 0964-2633. 61(6), s. 594–603. doi: 10.1111/jir.12342. Fulltekst i vitenarkiv
• Aasen, Gro Elisabeth & Nærland, Terje (2014). Observing the use of tactile schedules. Journal of Intellectual Disabilities. ISSN 1744-6295. 18(4), s. 315–336. doi: 10.1177/1744629514544073. Fulltekst i vitenarkiv
• Aasen, Gro Elisabeth & Nærland, Terje (2014). Enhancing activity by means of tactile symbols: A study of a heterogeneous group of pupils with congenital blindness, intellectual disability and autism spectrum disorder. Journal of Intellectual Disabilities. ISSN 1744-6295. 18(1), s. 61–75. doi: 10.1177/1744629514522142. Fulltekst i vitenarkiv
• Nærland, Terje & Martinsen, Harald (2011). Child-child interactions and positive social focus among preschool children. Early Child Development and Care. ISSN 0300-4430. 181(3), s. 361–370. doi: 10.1080/03004430903387701. Fulltekst i vitenarkiv
• Nærland, Terje (2011). Language Competence and Social Focus among Preschool Children. Early Child Development and Care. ISSN 0300-4430. 181(5), s. 599–612. doi: 10.1080/03004431003665780. Fulltekst i vitenarkiv
• Nærland, Terje (2011). Evaluating dialogue competence in naturally occurring child-child interactions. Early Child Development and Care. ISSN 0300-4430. 181(5), s. 691–705. doi: 10.1080/03004430.2010.483112. Fulltekst i vitenarkiv

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• Martinsen, Harald; Storvik, Sylvi; Kleven, Ellen; Nærland, Terje; Hildebrand, Katrine B. & Olsen, Kathrin (2016). Mennesker med autismespekterforstyrrelser (ASD): utfordringer i tiltak og behandling. Gyldendal Akademisk. ISBN 9788205481916. 252 s. Fulltekst i vitenarkiv
• Martinsen, Harald; Nærland, Terje & Tetzchner, Stephen von (2015). Språklig høytfungerende barn og voksne med autismespekterforstyrrelse: Prinsipper for opplæring og tilrettelegging, Annen utgave. Gyldendal Akademisk. ISBN 9788205489868. 290 s. Fulltekst i vitenarkiv

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• Dønnum, Monica Stolen; Nerhus, Mari; Nærland, Terje & Nag, Heidi Elisabeth (2025). Psychiatric symptoms in Smith-Magenis syndrome and Potocki-Lupski syndrome Authors and Affiliations:. Fulltekst i vitenarkiv Vis sammendrag

  Studien undersøker forekomsten og profilen av psykiatriske symptomer hos personer med Smith-Magenis syndrom (SMS) og Potocki-Lupski syndrom (PTLS). Ved hjelp av PAC-skjemaet ble 10 personer med SMS og 9 med PTLS vurdert. Resultatene viser at 8 av 10 med SMS og 4 av 9 med PTLS hadde symptomer som tilsier behov for videre psykiatrisk vurdering. Symptombelastningen var høyere i SMS-gruppen, særlig med flere samtidige vansker. Funnene understreker behovet for økt klinisk oppmerksomhet og mer forskning på psykiatrisk komorbiditet, spesielt ved SMS.

• Dønnum, Monica Stolen; Nerhus, Mari; Nærland, Terje & Nag, Heidi Elisabeth (2025). Longitudinal Changes in Challenging Behaviour and Autistic Symptoms in Individuals with Smith-Magenis Syndrome. Fulltekst i vitenarkiv Vis sammendrag

  Denne studien undersøker utviklingen av sosial funksjon, utfordrende atferd og autistiske trekk hos personer med Smith-Magenis' syndrom over syv år. Seksten deltakere fra Norge og Sverige ble vurdert ved to tidspunkter med standardiserte spørreskjemaer. Resultatene viser betydelig forbedring i sosial funksjon og en reduksjon i utfordrende atferd, mens autistiske symptomer forble relativt stabile. Ingen demografiske faktorer kunne forklare endringene. Studien understreker behovet for videre forskning for å forstå utviklingsforløpet og forbedre tiltak.

• Dønnum, Monica Stolen; Nag, Heidi Elisabeth & Nærland, Terje (2024). A LONGITUDINAL STUDY OF CHALLENGING BEHAVOUR AND AUTISTIC SYMPTOMS IN SMITH-MAGENIS SYNDROME. Fulltekst i vitenarkiv
• Dønnum, Monica Stolen; Nag, Heidi Elisabeth; Nerhus, Mari & Nærland, Terje (2024). Psychiatric symptoms in Smith-Magenis syndrome and Potocki-Lupski syndrome. Fulltekst i vitenarkiv
• Kildal, Emilie Smith-Meyer; Quintana, Daniel; Szabo, Attila; Tronstad, Christian; Andreassen, Ole & Nærland, Terje [Vis alle 7 forfattere av denne artikkelen] (2023). Heart rate monitoring to detect acute pain in non-verbal patients: a study protocol for a randomized controlled clinical trial. BMC Psychiatry. 23(1). doi: 10.1186/s12888-023-04757-1. Fulltekst i vitenarkiv Vis sammendrag

  Background Autism entails reduced communicative abilities. Approximately 30% of individuals with autism have intellectual disability (ID). Some people with autism and ID are virtually non-communicative and unable to notify their caregivers when they are in pain. In a pilot study, we showed that heart rate (HR) monitoring may identify painful situations in this patient group, as HR increases in acutely painful situations. Objectives This study aims to generate knowledge to reduce the number of painful episodes in non-communicative patients’ everyday lives. We will 1) assess the effectiveness of HR as a tool for identifying potentially painful care procedures, 2) test the effect of HR-informed changes in potentially painful care procedures on biomarkers of pain, and 3) assess how six weeks of communication through HR affects the quality of communication between patient and caregiver. Methods We will recruit 38 non-communicative patients with autism and ID residing in care homes. Assessments: HR is measured continuously to identify acutely painful situations. HR variability and pain-related cytokines (MCP-1, IL-1RA, IL-8, TGFβ1, and IL-17) are collected as measures of long-term pain. Caregivers will be asked to what degree they observe pain in their patients and how well they believe they understand their patient’s expressions of emotion and pain. Pre-intervention: HR is measured 8 h/day over 2 weeks to identify potentially painful situations across four settings: physiotherapy, cast use, lifting, and personal hygiene. Intervention: Changes in procedures for identified painful situations are in the form of changes in 1) physiotherapy techniques, 2) preparations for putting on casts, 3) lifting techniques or 4) personal hygiene procedures. Design: Nineteen patients will start intervention in week 3 while 19 patients will continue data collection for another 2 weeks before procedure changes are introduced. This is done to distinguish between specific effects of changes in procedures and non-specific effects, such as caregivers increased attention. Discussion This study will advance the field of wearable physiological sensor use in patient care. Trial registration Registered prospectively at ClinicalTrials.gov (NCT05738278).

• Nærland, Terje; Nag, Heidi Elisabeth; Dønnum, Monica Stolen; Høyland, Anne Lise & Heussler, H.S. (2022). New approaches to the study of behavioural phenotypes. Journal of Intellectual Disability Research. ISSN 0964-2633. 66(8-9), s. 667–668. doi: 10.1111/jir.12961. Fulltekst i vitenarkiv
• Cockerell, Ine Tracey; Christensen, Jakob; Høi-Hansen, Christina E.; Holst, Lotte; Fredriksen, Mikkel & Heimdal, Kjetil [Vis alle 10 forfattere av denne artikkelen] (2021). Efficacy and safety of everolimus in patients with tuberous sclerosis complex. Fulltekst i vitenarkiv
• Johannessen, Jarle; Nærland, Terje; Hope, Sigrun; Torske, Tonje; Kaale, Anett & Wirgenes, Katrine Verena [Vis alle 10 forfattere av denne artikkelen] (2021). Correction to: Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health (European Journal of Human Genetics, (2021), 10.1038/s41431-021-00966-y). European Journal of Human Genetics. ISSN 1018-4813. doi: 10.1038/s41431-021-01021-6. Fulltekst i vitenarkiv
• Malt, Eva Albertsen; Halmøy, Anne; Nærland, Terje & Malt, Ulrik Fredrik (2020). Nevroutviklingsforsatyrrelser, Lærebok i psykiatri Basisversjon. Gyldendal Norsk Forlag A/S. ISSN 9788205526624. s. 149–168. Fulltekst i vitenarkiv
• Nag, Heidi Elisabeth; Øverland, Klara & Nærland, Terje (2019). Age Related Changes in Behavioural and Emotional Problems in Smith-Magenis Syndrome. Fulltekst i vitenarkiv
• Reindal, Lise; Nærland, Terje; Weidle, Bernhard; Lydersen, Stian; Andreassen, Ole Andreas & Sund, Anne Mari (2019). Age of First Walking in Children with Suspected or Diagnosed Autism Spectrum Disorder. Fulltekst i vitenarkiv
• Reindal, Lise; Nærland, Terje; Weidle, Bernhard; Lydersen, Stian; Andreassen, Ole Andreas & Sund, Anne Mari (2019). Tidlig motorikk og sammenheng med grad av autismesymptomer blant norske barn utredet for mistenkt autismespekterforstyrrelse (ASF). Fulltekst i vitenarkiv
• Hope, Sigrun; Nærland, Terje; Høyland, Anne Lise; Torske, Tonje; Malt, Eva Albertsen & Abrahamsen, T.G. (2018). High Serum Vitamin B12 in Children, Adolescents and Adults with Neurodevelopmental Disorders. Fulltekst i vitenarkiv
• Malt, Eva Albertsen; Linaker, Olav Morten; Nærland, Terje & Malt, Ulrik Fredrik (2018). Autismespekterlidelser og psykisk utviklingshemming. I Malt, Ulrik Fredrik; Andreassen, Ole Andreas; Malt, Eva Albertsen; Melle, Ingrid & Aarsland, Dag (Red.), Lærebok i psykiatri. Gyldendal Akademisk. ISSN 9788205494633. s. 675–706. Fulltekst i vitenarkiv
• Nag, Heidi Elisabeth; Øverland, Klara & Nærland, Terje (2018). School Staff’s Experiences with Smith-Magenis syndrome in Schools –How Do They Handle challenging Behaviour and What Do They Need to manage their work? A Q-methodological study. Fulltekst i vitenarkiv
• Nag, Heidi Elisabeth; Øverland, Klara & Nærland, Terje (2018). School staff’s experience and coping related to challenging behaviour of children with Smith-Magenis Syndrome in schools. Fulltekst i vitenarkiv
• Nag, Heidi Elisabeth; Øverland, Klara & Nærland, Terje (2018). School staff’s experiences and coping related to challenging behaviour of children with Smith-Magenis Syndrome in schools. A Q-methodological study. Fulltekst i vitenarkiv
• Nag, Heidi Elisabeth; Nærland, Terje; Anderlid, Britt-Marie & Nordgren, Ann (2017). Reversed Gender ratio of Autism Spectrum Disorders in Smith-Magenis Syndrome. Fulltekst i vitenarkiv
• Nag, Heidi Elisabeth & Nærland, Terje (2017). Relation between Sleep and Behaviour problems in Smith-Magenis Syndrome? Fulltekst i vitenarkiv
• Bakke, Kristin Andersen & Nærland, Terje (2016). The concept of rarenss; aetiology vs. diagnosis in developmental disorders. Fulltekst i vitenarkiv
• Bakke, Kristin Andersen; Kanavin, Øivind J. & Nærland, Terje (2015). Angelman syndrome: Epilepsy and abnormal development. Fulltekst i vitenarkiv
• Solbakken, Gro; Eikeland, Torunn Dahl; Hagen, Tormod & Nærland, Terje (2014). GENDER DIFFERENCES IN PREDICTORS FOR SOCIAL NETWORK AND QUALITY OF LIFE IN DM1 PATIENTS. Fulltekst i vitenarkiv
• Solbakken, Gro; Hagen, Tormod; Eikeland, Torunn Dahl & Nærland, Terje (2014). DM1 AND GENDER; HOW CTG EXPANSION AFFECT MEN AND WOMEN DIFFERENTLY. Fulltekst i vitenarkiv
• Solbakken, Gro; Hagen, Tormod; Torunn, Dahl Eikeland & Nærland, Terje (2014). DIRECTION OF PROGRESSION OF MOTOR IMPAIRMENT IN DM1 PATIENTS; RELATION TO CTG EXPANSION. Fulltekst i vitenarkiv
• Storvik, Sylvi; Grindheim, Elisabeth & Nærland, Terje (2014). Availiability and Use of AAC and Social Comunicative Competence in Children with Down Syndrome. Fulltekst i vitenarkiv
• Nærland, Terje; Warner, Georgina; Storvik, Sylvi & Howlin, Patricia (2014). Age related differences in Hyperactivity/inattention and Peer Problems/ASD among individuals with Down Syndrome. Fulltekst i vitenarkiv
• Nærland, Terje; Eikeland, Torunn Dahl; Hagen, Tormod & Solbakken, Gro (2014). Behavioural phenotype of the classic adult type of Myotonic Dystrophy. Fulltekst i vitenarkiv
• Nærland, Terje; Hoem, Bjørg S & Andersen, Monica (2012). Structure-dependency among individuals with CdLS. Fulltekst i vitenarkiv
• Nilsson, Karin Brita & Nærland, Terje (2012). Genetic syndromes and ASD. Fulltekst i vitenarkiv
• Nærland, Terje; Nilsson, Karin Brita; Benan, Nina; Hildebrand, Katrine B. & Storvik, Sylvi (2012). Increased Prevalence of Performance Problem among Individuals with Genetic Syndromes and Autism Spectrum Disorders. Fulltekst i vitenarkiv
• Nærland, Terje & Nilsson, Karin Brita (2010). Temperamental and behavioural characteristics of individuals with the co-morbid condition of Tuberous sclerosis and ASD. Fulltekst i vitenarkiv
• Nærland, Terje; Hildebrand, Katrine B.; Storvik, Sylvi & Martinsen, Harald (2010). Focus related performance problems (FRPP) among persons with ASD and genetic syndromes. Fulltekst i vitenarkiv
• Reindal, Lise; Weidle, Bernhard; Sund, Anne Mari; Nærland, Terje & Leikanger, Einar (2022). Co-occurring motor, language and functional impairments in children evaluated for autism spectrum disorder. Norges teknisk-naturvitenskapelige universitet. ISSN 9788232654468. Fulltekst i vitenarkiv Vis sammendrag

  Autism spectrum disorder (ASD), a common neurodevelopmental disorder (NDD), is characterised by the presence of core symptoms sufficiently severe to cause functional impairment but otherwise highly heterogenous. The core social deficiency is now considered a continuous trait with no natural cut-off between ASD and subthreshold autistic symptoms. Although they do not meet the diagnostic criteria for ASD, such traits are found to overlap with diagnosed ASD genetically and to present with the same comorbidities and functional impairments, including an increased risk for motor and language difficulties. Developing a better understanding of how co-occurring motor and language deficits may interact with core ASD symptoms to impact overall functioning is important for adapting diagnostic and clinical services accordingly. The variable and often early presentations of these symptoms also represent potential markers of subgroups within the autism spectrum. The overall aim of this thesis was to study co-occurring motor and language impairments and their potential relationship with symptom severity and functional impairment in children with a broad range of autistic symptoms through a dimensional approach, that is, distinguishing the children as diagnosed with ASD or diagnosed with subthreshold autistic symptoms (non-ASD). Participants were recruited from an ongoing large multisite study on NDDs in Norway (BUPgen), in which children were eligible to participate if a suspicion of ASD led to their being evaluated for ASD by public specialist health services. While the first and second studies presented in this thesis (Papers I and II) were based on clinical data from the main study (N = 490 and N = 177, respectively; 4–18 years), the third study (Paper III) was based on an in-depth evaluation of motor, language and overall functioning collected from a local subsample (N = 20; 6–18 years). The categorical approach (ASD/non-ASD) used in recruitment and group comparisons was supplemented by a dimensional approach in assessments and analyses whereby ASD symptomatology, core developmental skills and functional impairment were examined as continuous traits within the whole group of children with autistic symptoms, regardless of diagnostic category. Results for both groups were compared to norms for typically developing Norwegian children. The first study involved an investigation of early motor skills (age of onset of independent walking [AOW]), as well as the relationship between AOW and severity of autistic symptoms with different measures (Autism Diagnostic Interview-Revised [ADI-R], Social Communication Questionnaire [SCQ] and Social Responsiveness Scale [SRS]). Potential sex differences were also investigated. While the AOW was found to be more delayed in children diagnosed with ASD compared to children with subthreshold symptoms, significant delays were found in both groups compared to population norms. Moreover, AOW was associated with the severity of core ASD symptoms (ADI-R, SCQ), even after adjustment for cognitive abilities. The second study investigated the extent of and relationship between early language delay (non-attainment of phrase speech at two years of age), current language deficits (the Children’s Communication Checklist Second Edition [CCC-2]) and social impairment (SRS). While early language delays were more common among males and associated with structural language deficits, pragmatic language and social skills did not differ significantly between children with and without language delay. Structural language deficits were common and strongly associated with reduced pragmatic competence regardless of diagnostic group (ASD/non-ASD), while pragmatic impairments were most profound in children with ASD. The aim of the third study was to provide a more detailed skill profile of school-aged children evaluated for ASD and to explore the co-occurrence and potential impact of motor and language impairments on overall functioning. Therefore, a standard clinical evaluation was extended with measures on current motor (Developmental Coordination Disorder Questionnaire 2007 [DCDQ’07], Movement Assessment Battery for Children – 2 [MABC- 2]), language (CCC-2) and social skills (SRS), as well as overall functional impairment (Developmental Disability-Children’s Global Assessment Scale [DD-CGAS]). We found that most children had motor and/or structural language deficits in addition to their social impairments. Furthermore, better motor performance was associated with better structural language and social skills. Functional impairment was associated with core ASD symptoms. In addition, limited participation in physical education and out-of-school activities was common. Taken together, these results suggest that motor and language deficits are common and under-recognised. They often present early and should be anticipated and assessed when evaluating children for suspected ASD. These deficits may need specific interventions that complement those targeting social skill deficits and other ASD core symptoms.

• Nærland, Terje; Øverland, Klara & Nag, Heidi Elisabeth (2020). Behavioural phenotype of Smith-Magenis Syndrome (SMS) : Individual characteristics and parental and school staff's experiences. Universitetet i Stavanger. ISSN 9788276449716. Fulltekst i vitenarkiv Vis sammendrag

  Smith-Magenis’ syndrom er en sjelden og kompleks genetisk tilstand. Det anslås at rundt 1 av 15.000-25.000 levendefødte barn har diagnosen, og i Norge vet vi om ca 40-50 kjente tilfeller. Denne studien søker å bringe ny kunnskap om atferd hos personer med Smith-Magenis’ syndrom, både i pedagogiske miljøer og i hjemmet, ved å inkludere både skolepersonalet og foreldrenes erfaringer med personer med Smith Magenis’ syndrom. Målet med doktoravhandlingen er å utforske utfordrende atferd knyttet til en sjelden diagnose, for å forstå hvordan og hvorfor atferden oppstår. Smith-Magenis syndrom medfører utviklingshemning, medfødte misdannelser, overvekt, nevroutviklingsforstyrrelser og en forstyrret døgnrytme. Men i tillegg har barn og voksne med Smith Magenis’ syndrom ofte karakteristiske egenskaper som er spesielt utfordrende for både foreldre og fagfolk. Disse inkluderer søvnforstyrrelser, selvskading og utfordrende atferd, stereotypier og sensoriske utfordringer. For å utforske utfordrende atferd hos personer med en sjelden diagnose, benytter studien en kombinasjon av ulike tilnærminger karakterisert som en multimetodedesign. Doktorgradsavhandlingen inneholder kvalitative og kvantitative metoder, samt Q-metode. I studien deltar foreldrene til 36 personer med Smith Magenis’ syndrom i aldersspennet 1,5 til 50 år. Totalt 18 av personene var fra Norge, 13 fra Sverige og 5 fra Danmark. Det første målet med denne doktorgradsavhandlingen er å utforske karakteristikkene til personer med Smith Magenis’ syndrom i den skandinaviske befolkningen, og forholdet mellom de ulike spesifikke egenskapene. De to mest interessante funnene i disse to artiklene er at autismespektervansker hos personer med Smith Magenis’ syndrom forekommer oftere hos kvinner enn menn, som er motsatt av resten av befolkningen, og at det er en nedgang i atferdsmessige og emosjonelle vansker med alderen. Det andre målet med doktorgradsavhandlingen er å undersøke erfaringene blant skolens ansatte og hvordan skolens ansatte håndterer den utfordrende atferden til personer med Smith Magenis’ syndrom. For skolepersonalet ser det ut som om ikke-utagerende atferd oppleves mer utfordrende enn utagerende atferd. Støtte fra skolens ledelse er også spesielt viktig når man arbeider med elever med Smith Magenis’ syndrom. Den siste målsetningen med denne avhandlingen tar for seg foreldrenes erfaringer med å ha et barn med Smith Magenis Syndrom, med fokus på utfordrende atferd. Foreldrene har en opplevelse av å bli misforstått av fagfolk, og opplever at den utfordrendene atferden øker fordi det er noen spesifikke karakteristikker av Smith Magenis’ syndrom som fagfolk ikke er klar over eller ikke tar hensyn til i sine hjelpetjenester. Bruken av en multimetodedesign og data fra ulike kilder har gitt mulighet til å utforske utfordrende atferd ved Smith Magenis’ syndrom fra ulike perspektiver. Dette har vært nyttig, og ny kunnskap har blitt funnet ved å utforske det samme emnet med flere metoder og på tvers av ulike informanter (skoleansatte og foreldre) og i ulike situasjoner (hjem og skole).

• Nag, Heidi Elisabeth; Øverland, Klara & Nærland, Terje (2020). Behavioral Phenotype of Smith-Magenis syndrome (SMS). Individual characteristics and parental and School staff's experiences. Universitetet i Stavanger. Fulltekst i vitenarkiv
• Nærland, Terje (2011). Social Status and Communicative Competence in Preschool Years; An Observation Based Approach. Universitetet i Oslo. Fulltekst i vitenarkiv

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