| 11. |
- Castellheim, Albert, et al.
(författare)
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The role of general anesthesia on traits of neurodevelopmental disorders in a Swedish cohort of twins.
- 2018
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Ingår i: Journal of child psychology and psychiatry, and allied disciplines. - : Wiley. - 1469-7610 .- 0021-9630. ; 59:9, s. 966-972
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Tidskriftsartikel (refereegranskat)abstract
- The role of general anesthetics as a risk factor for possible neurodevelopmental disorders (NDDs) in humans is unresolved. The investigation of the role of anesthetics in the development of postgeneral anesthesia (anesthesia onward) NDDs has proven to be complicated, partly because of the inherent confounding in clinical cohort studies, and partly by the fact that anesthetics are only one part in the complex process of anesthesia-surgery.Utilizing the Swedish databases Child and Adolescent Twins Study in Sweden (CATSS) and National Patient Register (NPR), we investigated twins discordant for anesthesia, born between 1997 and 2004 for traits of NDDs. We identified 68 twin pairs discordant for anesthesia and explored traits of Attention-Deficit/Hyperactivity Disorder (ADHD), Learning Disability (LD), and Autism Spectrum Disorder (ASD) in them while simultaneously taking congenital abnormalities and systemic disorders (CSDs) into account. We analyzed the possible effect of anesthesia on neurodevelopmental problems, and we analyzed the within-pair differences using conditional linear regression.Twins with a recorded episode of anesthesia had higher traits of NDDs than twins without; similarly twins with CSDs had higher mean scores on all traits than twins without CSDs. The within-pair analyses suggested that exposure to anesthesia was associated with higher scores of ADHD (regression coefficient 1.02 and 95% confidence intervals: 0.27-1.78) in monozygotic (MZ) twins discordant for anesthesia. This effect remained when adjusting for congenital abnormalities.Our finding that traits of ADHD were slightly associated with anesthesia in a genetically sensitive design is in need of replication and warrants further investigation. Future studies should aim to elucidate mechanisms behind this possible association (e.g. anesthetics doses, age at exposure, exposure duration).
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| 12. |
- Cederlund, Mats, 1962, et al.
(författare)
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Asperger syndrome and autism: a comparative longitudinal follow-up study more than 5 years after original diagnosis.
- 2008
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Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 38:1, s. 72-85
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Tidskriftsartikel (refereegranskat)abstract
- Prospective follow-up study of 70 males with Asperger syndrome (AS), and 70 males with autism more than 5 years after original diagnosis. Instruments used at follow-up included overall clinical assessment, the Diagnostic Interview for Social and Communication Disorders, Wechsler Intelligence Scales, Vineland Adaptive Behavior Scales, and Global Assessment of Functioning Scale. Specific outcome criteria were used. Outcome in AS was good in 27% of cases. However, 26% had a very restricted life, with no occupation/activity and no friends. Outcome in the autism group was significantly worse. Males with AS had worse outcomes than expected given normal to high IQ. However, outcome was considerably better than for the comparison group of individuals with autism.
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| 13. |
- Chaste, Pauline, et al.
(författare)
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Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
- 2011
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Ingår i: Journal of Pineal Research. - 0742-3098 .- 1600-079X. ; 51:4, s. 394-399
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Tidskriftsartikel (refereegranskat)abstract
- Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration in melatonin signaling has been reported in a broad range of diseases, but little is known about the genetic variability of this pathway in humans. Here, we sequenced all the genes of the melatonin pathway -AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 - in 321 individuals from Sweden including 101 patients with attention-deficit/hyperactivity disorder (ADHD) and 220 controls from the general population. We could find several damaging mutations in patients with ADHD, but no significant enrichment compared with the general population. Among these variations, we found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A. These genetic and functional results represent the first comprehensive ascertainment of melatonin signaling deficiency in ADHD.
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| 14. |
- Chaste, Pauline, et al.
(författare)
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Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.
- 2010
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Ingår i: PloS One. - : Public Library of Science (PLoS). - 1932-6203. ; 5:7
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Tidskriftsartikel (refereegranskat)abstract
- Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of the melatonin pathway has been reported in circadian disorders, diabetes and autism spectrum disorders (ASD). However, very little is known about the genetic variability of melatonin receptors in humans. Here, we sequenced the melatonin receptor MTNR1A and MTNR1B, genes coding for MT1 and MT2 receptors, respectively, in a large panel of 941 individuals including 295 patients with ASD, 362 controls and 284 individuals from different ethnic backgrounds. We also sequenced GPR50, coding for the orphan melatonin-related receptor GPR50 in patients and controls. We identified six non-synonymous mutations for MTNR1A and ten for MTNR1B. The majority of these variations altered receptor function. Particularly interesting mutants are MT1-I49N, which is devoid of any melatonin binding and cell surface expression, and MT1-G166E and MT1-I212T, which showed severely impaired cell surface expression. Of note, several mutants possessed pathway-selective signaling properties, some preferentially inhibiting the adenylyl cyclase pathway, others preferentially activating the MAPK pathway. The prevalence of these deleterious mutations in cases and controls indicates that they do not represent major risk factor for ASD (MTNR1A case 3.6% vs controls 4.4%; MTNR1B case 4.7% vs 3% controls). Concerning GPR50, we detected a significant association between ASD and two variations, Delta502-505 and T532A, in affected males, but it did not hold up after Bonferonni correction for multiple testing. Our results represent the first functional ascertainment of melatonin receptors in humans and constitute a basis for future structure-function studies and for interpreting genetic data on the melatonin pathway in patients.
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| 15. |
- Danielsson, Susanna, 1964, et al.
(författare)
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Epilepsy in young adults with autism: a prospective population-based follow-up study of 120 individuals diagnosed in childhood.
- 2005
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Ingår i: Epilepsia. - : Wiley. - 0013-9580 .- 1528-1167. ; 46:6, s. 918-923
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Little is known about the long-term outcome of epilepsy in autism and the epilepsy characteristics of adults with autism. This prospective population-based study was conducted in an attempt to point out differences on a group basis between adults with autism with or without epilepsy, and to describe the occurrence, the seizure characteristics, and the outcome of epilepsy in autism. METHODS: One hundred eight of 120 individuals with autism diagnosed in childhood and followed up prospectively for a period of 13-22 years were reevaluated at ages 17-40 years. As adults, the majority had mental retardation and autistic disorder or autistic-like condition. Interviews were performed with the caretakers of 42 of 43 individuals with a history of epilepsy, and their medical records were reviewed. RESULTS: Adults with autism and mental retardation constituted a severely disabled group. On a group basis, both the cognitive level and the adaptive behavior level were lower in the epilepsy group than in the nonepilepsy group (p<0.05). In all, 38% had epilepsy. One third had epilepsy onset before age 2 years. Remission of epilepsy was seen in 16%. Partial seizures with or without secondarily generalized seizures were the dominating seizure type. CONCLUSIONS: In a community sample of individuals with autism followed up from childhood through to adult age, one of three had epilepsy since childhood/adolescence. Severe mental retardation and autism are significantly associated with epilepsy, especially in female patients. Seizure frequency has a great impact on the individuals' lives. Specialist medical care is needed in this severely communication-disabled population.
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| 16. |
- Davidsson, Maria, 1990, et al.
(författare)
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Anxiety and depression in adolescents with ADHD and autism spectrum disorders; correlation between parent- and self-reports and with attention and adaptive functioning.
- 2017
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Ingår i: Nordic journal of psychiatry. - : Informa UK Limited. - 1502-4725 .- 0803-9488. ; 71:8, s. 614-620
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Tidskriftsartikel (refereegranskat)abstract
- Adolescents with attention-deficit/hyperactive disorder (ADHD) or autism spectrum disorder (ASD) are at high risk of anxiety and depression. This is important to identify in the clinical assessment to understand its impact.The aim of this study is to investigate the correlation between parent- and self-reports of anxiety and depression in adolescents with ADHD or ASD, as well as the correlation with adaptive functioning and performance on an attention test.A total of 65 adolescents with an ADHD diagnosis (n=24) or an ASD diagnosis (n=41) filled out Beck Youth Inventories of Emotional and Social Impairment (BYI) to assess depression and anxiety and completed a Continuous Performance Test (QbTest) measuring ADHD symptoms. Parents of the participants completed the internalizing domain in the Five to Fifteen questionnaire (FTF), measuring symptoms of anxiety and depression, and the Vineland Adaptive Behavior Scales (VABS) about the adolescent's adaptive functioning.Approximately a third of the study group self-reported substantial internalizing mental symptoms not always recognized by parents, and not always obvious in adaptive function or performance at ADHD test. Correlations between BYI and FTF were low. The BYI depression inventory correlated negatively with VABS and positively with activity level in a subgroup medicated for ADHD. There was a stronger correlation between girls BYI and FTF results as compared with boys.The results highlight the need for identification of anxiety and depression, using both self- and parent report. Present anxiety and depression symptoms do not seem to affect the clinical assessment of ASD and ADHD.
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| 17. |
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| 18. |
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| 19. |
- Dinkler, Lisa, et al.
(författare)
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Visual scanning during emotion recognition in long-term recovered anorexia nervosa : An eye-tracking study
- 2019
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Ingår i: International Journal of Eating Disorders. - : Wiley. - 0276-3478 .- 1098-108X. ; 52:6, s. 691-700
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To examine Facial Emotion Recognition (FER) and visual scanning behavior (eye-tracking) during FER in women long-term recovered from teenage-onset anorexia nervosa (recAN) with and without autism spectrum disorder (±ASD) and age-matched comparison women (COMP), using a sensitive design with facial emotion expressions at varying intensities in order to approximate real social contexts. Method: Fifty-seven 38–47-year-old women (26 recAN of whom six with ASD, 31 COMP) participated in the study. They completed a non-verbal FER task, consisting of matching basic emotions at different levels of expression intensity with full emotional expressions. Accuracy, response time and visual scanning behavior were measured. Results: There were no differences between recAN-ASD and COMP in FER accuracy and visual scanning behavior during FER, including eye viewing and hyperscanning. In an exploratory analysis, recAN+ASD were more accurate than recAN-ASD in identifying expressions at low intensity, but not at medium or high expression intensity. Accuracy was not associated with the extent of attention to the eye region. Discussion: Our data indicate that women long-term recovered from adolescent-onset AN do not have deficits in basic FER ability and visual scanning behavior during FER. However, the presence of comorbid ASD might affect face processing in recovered AN. Future studies investigating basic FER in acute and recovered AN and other conditions need to ensure that the stimuli used are sensitive enough to detect potential deficits.
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| 20. |
- Durand, Christelle. M., et al.
(författare)
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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
- 2007
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:1, s. 25-27
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Tidskriftsartikel (refereegranskat)abstract
- SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.
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