| 1. |
- Bejerot, Susanne, 1955-, et al.
(författare)
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Autismspektrumsyndrom ersätter Aspergers syndrome och autism : [Autism spectrum syndrome replaces Asperger syndrome and autism]
- 2014
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Ingår i: Läkartidningen. - Stockholm, Sweden : Läkartidingen Förlag AB. - 0023-7205 .- 1652-7518. ; 111:39, s. 1660-1663
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder describes a behaviourally defined impairment in social interaction and communication, along with the presence of restricted interests and repetitive behaviours. Although the etiology is mostly unknown, it is evident that biological factors affect the brain and result in the autistic clinical presentation. Assessment for diagnosing autism spectrum disorder should be comprehensive in order to cover all sorts of problems related to the disorder. Knowledge and experience from working with neurological and psychiatric disorders are a prerequisite for quality in the examination. Up to now, there is no cure for autism spectrum disorder, but support and adaptations in education are nevertheless important for obtaining sufficient life quality for the patients and the family.
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| 2. |
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| 3. |
- Bremer, Anna, et al.
(författare)
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Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
- 2011
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Ingår i: American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-4841. ; 156B156:2, s. 115-124
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex genetic etiology. We used high-resolution whole genome array-based comparative genomic hybridization (array-CGH) to screen 223 ASD patients for gene dose alterations associated with susceptibility for autism. Clinically significant copy number variations (CNVs) were identified in 18 individuals (8%), of which 9 cases (4%) had de novo aberrations. In addition, 20 individuals (9%) were shown to have CNVs of unclear clinical relevance. Among these, 13 cases carried rare but inherited CNVs that may increase the risk for developing ASDs, while parental samples were unavailable in the remaining seven cases. Classification of all patients into different phenotypic and inheritance pattern groups indicated the presence of different CNV patterns in different patient groups. Clinically relevant CNVs were more common in syndromic cases compared to non-syndromic cases. Rare inherited CNVs were present in a higher proportion of ASD cases having first- or second-degree relatives with an ASD-related neuropsychiatric phenotype in comparison with cases without reported heredity (P=0.0096). We conclude that rare CNVs, encompassing potential candidate regions for ASDs, increase the susceptibility for the development of ASDs and related neuropsychiatric disorders giving us further insight into the complex genetics underlying ASDs
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| 4. |
- Helgesson, Gert, et al.
(författare)
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Ethical aspects of diagnosis and interventions for children with fetal alcohol Spectrum disorder (FASD) and their families
- 2018
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Ingår i: BMC Medical Ethics. - : BIOMED CENTRAL LTD. - 1472-6939. ; 19
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Tidskriftsartikel (refereegranskat)abstract
- Background: Fetal alcohol spectrum disorders (FASD) is an umbrella term covering several conditions for which alcohol consumption during pregnancy is taken to play a causal role. The benefit of individuals being identified with a condition within FASD remains controversial. The objective of the present study was to identify ethical aspects and consequences of diagnostics, interventions, and family support in relation to FASD.Methods: Ethical aspects relating to diagnostics, interventions, and family support regarding FASD were compiled and discussed, drawing on a series of discussions with experts in the field, published literature, and medical ethicists.Results: Several advantages and disadvantages in regards of obtaining a diagnosis or description of the condition were identified. For instance, it provides an explanation and potential preparedness for not yet encountered difficulties, which may play an essential role in acquiring much needed help and support from health care, school, and the socia ! services. There are no interventions specifically evaluated for FASD conditions, but training programs and family support for conditions with symptoms overlapping with FASD, e.g. ADHD, autism, and intellectual disability, are likely to be relevant. Stigmatization, blame, and guilt are potential downsides. There might also be unfortunate prioritization if individuals with equal needs are treated differently depending on whether or not they meet the criteria for a specific condition. Conclusions: The value for the concerned individuals of obtaining a FASD-related description of their condition - for instance, in terms of wellbeing - is not established. Nor is it established that allocating resources based, on whether individuals fulfil FASD-related criteria is justified, compared to allocations directed to the most prominent specific needs.
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| 5. |
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| 6. |
- Nordin, Viviann, et al.
(författare)
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Autism spectrum disorders in children with physical or mental disability or both. I: Clinical and epidemiological aspects.
- 1996
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 38:4, s. 297-313
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Tidskriftsartikel (refereegranskat)abstract
- The prevalence of autism spectrum disorders was studied in all children with mental retardation and/or motor disability in a defined geographical region over a two-year follow-up period. In the general population, the prevalence of autistic disorder was 0.09% at the end of the follow-up period - a minimum estimate, as children with average intelligence were not screened. Autism spectrum disorders were found in 19.8% of children with mental retardation, including strictly defined autistic disorder (DSM-III-R criteria) in 8.9%; the two-year follow-up yielded a higher prevalence of 11.7% with autistic disorder. Among children with cerebral palsy, 10.5% had an autism spectrum disorder. Clear co-variation was found between mental retardation, epilepsy and autism spectrum disorders in this population of children with neurodevclopmental disorders.
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| 7. |
- Nordin, Viviann, et al.
(författare)
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Autism spectrum disorders in children with physical or mental disability or both. II: Screening aspects
- 1996
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Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 38:4, s. 314-324
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Tidskriftsartikel (refereegranskat)abstract
- The Autism Behavior Checklist (ABC) was used as a screening instrument in a study of autism spectrum disorders in a population of children with mental retardation or physical disability or both. The ABC score clearly reflected behavioural problems found in children with mental retardation and not only behaviours typical of autism. If the cut-off score used was 45 (lower than recommended by the original investigators), children with autistic disorder without multiple other disabilities were reliably identified, with an acceptable rate of false positive cases. In order not to miss other autism spectrum disorders, all cases with several omitted items in their checklists were examined in more detail. The Childhood Autism Rating Scale (CARS) distinguished reasonably well between autistic disorder and other autism spectrum disorders.
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| 8. |
- Nordin, Viviann, et al.
(författare)
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[Epilepsy and comorbid neurodevelopmental disorders] : Begränsad risk för att läkemedel för ADHD, depression eller psykos ger epileptiska anfall.
- 2018
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Ingår i: Läkartidningen. - 0023-7205. ; 115:Maj, s. 928-930
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Forskningsöversikt (refereegranskat)abstract
- In children and adults with epilepsy, it is important to be aware of and diagnose common comorbidities that may have a large impact on quality of life. Comorbid neurodevelopmental disorders include intellectual disability, autism, and attention deficit hyperactivity disorder (ADHD). Depression and anxiety are common findings, and also the risk of psychosis is increased. The medication used to treat these comorbidities is found to be effective with little risks of seizure exacerbation, i.e. medication with methylphenidate, selective serotonin reuptake inhibitors (SSRIs) and second generation neuroleptics. However, for every combination of antiepileptic drugs with new medication, the possibility of drug interactions should be kept in mind. Transition from childhood to adult medicine must include adequate treatment and follow-up of comorbid conditions.
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| 9. |
- Nordin, Viviann, et al.
(författare)
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Gangliosides in cerebrospinal fluid in children with autism spectrum disorders.
- 1998
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 40:9, s. 587-594
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Tidskriftsartikel (refereegranskat)abstract
- Gangliosides are sialic acid-containing glycolipids found in all cells, especially abundant in nerve cells and mainly situated on outer-membrane surfaces. The aim of this study was to provide data on the concentration of gangliosides in the CSF of children and adolescents with autism spectrum disorders (ASD) - 66 with autistic disorder, and 19 with other autism spectrum disorders. The comparison group consisted of 29 children and adolescents, whose CSF had been sampled to exclude acute infectious CNS disorder. The concentrations of the gangliosides GM1, GD1a, GD1b, and GT1b were determined using a microimmunoaffinity technique. The ASD group had a significantly higher concentration of ganglioside GM1 compared with the comparison group. The GM1 increase could not be explained as secondary to other clinical factors. Mean ganglioside levels did not differentiate subgroups with autistic disorder and those with a more atypical clinical picture, nor subgroups with known medical disorders and those with idiopathic autism. Altered patterns of gangliosides in the CNS might reflect important correlates of pathogenesis in autism.
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| 10. |
- Nordin, Viviann, et al.
(författare)
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School absenteeism in autistic children and adolescents : A scoping review
- 2023
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Ingår i: Autism. - : Sage Publications. - 1362-3613 .- 1461-7005.
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Forskningsöversikt (refereegranskat)abstract
- School absenteeism is a major societal problem, with a range of potential adverse long-term consequences. This scoping review aimed to provide a comprehensive overview of the research on school absenteeism in autistic children and adolescents, expose important gaps in the literature, and explore possibilities for future systematic reviews. Five relevant databases were searched systematically from inception to June 2023, yielding a total of 46 eligible reports from 42 separate studies. All studies were conducted in high-income countries, and most were published in the last decade. Three major themes emerged: occurrence, contextual factors, and interventions. The results of large-scale population-based studies clearly suggested that autistic children and adolescents were absent from school more often than their non-autistic peers, which partly was attributable to co-occurring conditions. Bullying also emerged as a potential risk factor. Only a few preliminary studies were available on targeted interventions, emphasizing the need for more robust studies. More research is also needed on the mechanisms leading to and maintaining school absenteeism in this group of learners. Overall, the diversity of research questions, methods, and definitions used in this body of research suggests that systematic reviews with narrow focus on a few key questions may still be premature.
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