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- Billstedt, Eva, 1961, et al.
(author)
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Cognitive functioning in a representative cohort of preschool children with febrile seizures
- 2020
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In: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 109:5, s. 989-94
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Journal article (peer-reviewed)abstract
- Aim To analyse cognitive functioning in 4-5-year-old children who had experienced febrile seizures (FS) and to assess the importance of complex, recurrent and early vs late onset FS. Methods The sample consisted of 73 children, screen positive for FS, drawn from the general child population of 4-year-old children attending their health check-up at child healthcare centres in Gothenburg, Sweden. They were assessed as regards general cognitive ability, visual memory and attention and were contrasted with age norms and with results obtained in 20 children without FS from the same healthcare centres. Results Of the 73 children, two had a previously diagnosed intellectual disability (ID) (one mild, one moderate) and two further children tested within the study had results corresponding to mild ID. Children with early onset of FS (before age 12 months)-who often had recurrent FS-had lower full-scale, verbal and processing speed IQ than those who had later onset of FS. Conclusion Children with early onset of FS and particularly those with recurrent FS may be at increased risk for poorer verbal and processing speed functioning and therefore at risk of developing cognitive, executive dysfunctions. They would probably benefit from neuropaediatric and neuropsychological follow-up.
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| 2. |
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| 3. |
- de Verdier, Kim, et al.
(author)
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Blindness and Autism : Parents’ Perspectives on Diagnostic Challenges, Support Needs and Support Provision
- 2020
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In: Journal of autism and developmental disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 50:6, s. 1921-1930
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Journal article (peer-reviewed)abstract
- Autism spectrum disorder (ASD), with or without intellectual disability (ID), is common in children with congenital blindness. This complex combination of disabilities often involves many challenges for the family. This study explored parents’ experiences of having a child with blindness and ASD (with or without ID), their support needs and experiences of the support provided. Interviews with eight parents, representing six families, were performed. The parents emphasized that assessment and diagnostic procedures must be performed by professionals with expertise in blind children’s development, and ASD. The support was often perceived as fragmented and did not correspond to the families’ needs. The results suggest that national guidelines should be produced, to ensure a more coordinated and tailored support to these families.
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| 4. |
- Fernell, Elisabeth, 1948, et al.
(author)
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Autism under the umbrella of ESSENCE
- 2023
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In: Frontiers in Psychiatry. - : Frontiers Media SA. - 1664-0640. ; 14
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Journal article (peer-reviewed)abstract
- This brief article gives a short overview of "comorbidity" in autism. The most common co-occurring disorders will be presented and discussed within the context of ESSENCE (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations), a concept that provides a holistic perspective for neurodevelopmental disorders. The ESSENCE concept also considers the heterogeneous and changing clinical panorama of developmental disorders over time, and also the multifactorial etiologies, including so called behavioral phenotype syndromes. Aspects on behavioral interventions in autism are presented-interventions that need to be adapted and take into account all non-autism associated ESSENCE, including intellectual disability and Attention-Deficit/Hyperactivity Disorder (ADHD). The article also focuses on current research on pharmacological intervention based on the hypothesis of imbalance in excitatory/inhibitory transmitter systems in autism and some other ESSENCE.
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| 5. |
- Fernell, Elisabeth, 1948, et al.
(author)
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Borderline intellectual functioning
- 2020
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In: Handbook of Clinical Neurology.. - : Elsevier. - 0072-9752. ; , s. 77-81
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Book chapter (other academic/artistic)abstract
- Borderline intellectual functioning (BIF), that is to say, tested IQ levels in the range of 70–84/85, is prevalent, affecting about 12%–14% of the population depending on the exact level for “diagnostic” cutoff. In the current Diagnostic and Statistical Manual of Mental Disorders, BIF does not have a separate diagnostic category but can be categorized with a V-code. Children and adolescents with BIF usually struggle both as regards school performance and in respect of social functioning. BIF is common in attention deficit hyperactivity disorder, but sometimes attention problems in schoolchildren with BIF may be a consequence of nonadapted academic demands. Autism and BIF may also coexist, and there are many cases of so-called high-functioning autism who are high functioning only in the sense that they do not meet criteria for intellectual disability, but function in the area of BIF. Currently, too little attention is given to the negative effects of BIF on child development and adaptation. Learning, academic, and behavioral problems and grade retention may be markers of BIF. Our diagnostic and classification manuals need to have specific categories that clarify the problems that BIF entails so that affected individuals can avail themselves of better educational support and understanding. © 2020 Elsevier B.V.
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| 6. |
- Fernell, Elisabeth, 1948, et al.
(author)
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Bumetanide for autism: Open-label trial in six children
- 2021
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In: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 110:5, s. 1548-1553
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Journal article (peer-reviewed)abstract
- Aim: Bumetanide, a diuretic agent, that reduces intracellular chloride-thereby reinforcing GABAergic inhibition-has been reported to improve core symptoms of autism in children. Given the positive results reported from French trials of bumetanide in children with autism, we decided to evaluate its effects in a small-scale pilot study, in advance of a larger randomised controlled study (RCT). Methods: This was an open-label three-month trial of bumetanide on six children (five boys), aged 3-14 years with autism. Ratings according to the Parental Satisfaction Survey (PASS) were used after four and twelve weeks to assess symptom change. Blood electrolyte status was monitored. Results: Improvement in the PASS domain "Communicative and cognitive abilities" was marked or very marked in four children, and two had some improvements. Few negative side effects were reported. Conclusion: Our small cohort responded well to bumetanide, particularly with regard to "Communicative and cognitive abilities". Taken with the evidence from larger-scale RCTs, we suggest that bumetanide should be considered for inclusion in ethically approved treatment/management trials for children with autism, subject to rigorous follow-up in large-scale RCTs.
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| 7. |
- Fernell, Elisabeth, 1948, et al.
(author)
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Paediatric Acute onset Neuropsychiatric Syndrome: Exploratory study finds no evidence of HLA class II association but high rate of autoimmunity in first-degree relatives
- 2022
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In: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 11:4, s. 820-824
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Journal article (peer-reviewed)abstract
- Aim Paediatric acute-onset neuropsychiatric syndrome (PANS) is defined by an acute onset of obsessive-compulsive disorder and/or eating restrictions and at least two other severe neuropsychiatric symptoms. The condition is suspected to have an immune-mediated pathophysiology, but reliable biomarkers have not been identified. Methods We hypothesised that PANS, like narcolepsy, might have a human leucocyte antigen (HLA) association, as found in 95% of children developing narcolepsy after H1N1 immunisation. Low resolution genotyping of the MHC class II antigens HLA-DRB1 and HLA-DQB1 was performed using two different PCR-based methods. In addition, parents were interviewed regarding a detailed family history of autoimmune diseases in first-degree relatives. A total of 18 children, aged 5-14 (mean 8.2) years at onset of PANS met symptom criteria. Results No evident association between PANS and the specific HLA alleles examined was observed. In first-degree relatives of 10 of the 18 children, an autoimmune disease had been diagnosed, and three of the 18 children themselves had an autoimmune disease. Conclusion No HLA allele association such as seen in children with narcolepsy after H1N1 immunisation could be confirmed in this group of children with PANS. However, more than half the group had a first-degree relative with a diagnosed autoimmune disease.
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| 9. |
- Hajjari, Parisa, et al.
(author)
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Paediatric Acute-onset Neuropsychiatric Syndrome (PANS) and intravenous immunoglobulin (IVIG): comprehensive open-label trial in ten children
- 2022
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In: Bmc Psychiatry. - : Springer Science and Business Media LLC. - 1471-244X. ; 22:1
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Journal article (peer-reviewed)abstract
- Background Treatment with intravenous immunoglobulin (IVIG) in children with Paediatric Acute-onset Neuropsychiatric Syndrome (PANS) has for many years been used on clinical indications, but the research evidence for its efficacy is insufficient. Methods Open-label prospective in-depth trial including ten children (median age 10.3 years) with PANS, who received IVIG treatment 2 g/kg monthly for three months. Primary outcomes were changes in symptom severity and impairment from baseline to first and second follow-up visits one month after first and one month after third treatment, using three investigator-rated scales: Paediatric Acute Neuropsychiatric Symptom (PANS) scale, Clinical Global Impression - Severity and Improvement (CGI-S and CGI-I) scales. Secondary outcomes reported here were changes in Children's Yale-Brown Obsessive Compulsive Scale (CY-BOCS) scores, and side effects. Results All ten children received three treatments at one-month intervals according to study plan. From baseline to second follow-up marked reductions were seen in mean total PANS scale scores (p = .005), and CGI-S scores (p = .004). CGI-I ratings showed much to very much global improvement (mean CGI-I 1.8). Nine children had clinical response defined as > 30% reduction in PANS Scale scores. Improvements were also noted for CY-BOCS scores (p = .005), and in school attendance. Three children suffered moderate to severe temporary side effects after the first treatment, and the remaining seven had mild to moderate side effects. Side effects were much less severe after second and third treatments. Conclusions Considerable and pervasive improvements in symptoms and clinical impairments were seen in these ten children after three monthly IVIG treatments. Moderate to severe transient side effects occurred in three cases.
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| 10. |
- Hatakenaka, Yuhei, 1959, et al.
(author)
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ESSENCE-Q obtained in routine Japanese public child health check-ups may be a valuable tool in neurodevelopmental screening
- 2020
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In: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253. ; 109:4, s. 764-773
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Journal article (peer-reviewed)abstract
- Aim: Our aim was to extend the validity of a questionnaire developed for screening and identifying early symptomatic syndromes eliciting neurodevelopmental clinical examinations-questionnaire (ESSENCE-Q) in young children. Methods: Early symptomatic syndromes eliciting neurodevelopmental clinical examinations-questionnaire data for 207 children, living in Aki City, Japan, in 2014-2015, were obtained from mothers, public health nurses and psychologists at 20- and 40-month routine check-ups at child healthcare centres. These were checked against subsequent ESSENCE diagnoses made by physicians. Receiver operating characteristic curves were constructed, and the area under the curves was compared. Sensitivity, specificity, positive predictive values (PPVs) and negative predictive values were calculated at optimal cut-off values. The clinical utility index was also calculated. Results: When the ESSENCE-Q was used by public health nurses, it demonstrated good validity, in terms of high sensitivity and high NPVs, at the 20-month check-up, but not at 40months. Psychologists demonstrated good validity at both ages, but mothers did not. Good negative utility indexes, indicating screening accuracy, were obtained from the psychologists at both check-ups and from nurses at 20months. Conclusion: The ESSENCE-Q results used by nurses and psychologists showed good validity. Future studies should confirm the effectiveness of this tool to identify children in need of clinical detailed neurodevelopmental assessment. © 2019 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd
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