| 1. |
- Johansson, Maria E I, 1961, et al.
(författare)
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Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum.
- 2007
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 49:4, s. 280-288
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Tidskriftsartikel (refereegranskat)abstract
- As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo-17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic-like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.
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| 2. |
- Johansson, Maria E I, 1961, et al.
(författare)
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Autism spectrum disorders and underlying brain pathology in CHARGE association.
- 2006
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Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 48:1, s. 40-50
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Tidskriftsartikel (refereegranskat)abstract
- The rate of autism spectrum disorders (ASDs) and brain abnormalities was analyzed in 31 individuals (15 males, 16 females; age range 1mo to 31y, mean age 8y 11mo) with CHARGE association, as part of a multidisciplinary study. A meticulous neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Judgement regarding ASDs was impossible in three infants and three patients who were deaf and blind. Five individuals met diagnostic criteria for autism, five for an autistic-like condition, and seven for autistic traits. Brain abnormalities were indicated in almost three-quarters of examined individuals, and midline abnormalities of the forebrain in one-third. Awareness of the coexistence of CHARGE and ASDs is important in habilitation care in CHARGE. Moreover, the results indicate that a subgroup of ASDs may be associated with errors in early embryonic brain development.
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| 3. |
- Råstam, Maria, 1948, et al.
(författare)
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Alexithymia in anorexia nervosa: a controlled study using the 20-item Toronto Alexithymia Scale.
- 1997
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Ingår i: Acta Psychiatrica Scandinavica. - : Wiley. - 0001-690X .- 1600-0447. ; 95:5, s. 385-388
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Tidskriftsartikel (refereegranskat)abstract
- The 20-item Toronto Alexithymia Scale (TAS) was completed at the age of 22 years by individuals who had previously suffered from anorexia nervosa (AN), and also by members of a comparison group. The AN and comparison groups had been recruited from community samples. Overall, the TAS scores did not clearly discriminate between the two groups. However, the AN group was significantly more often represented among subjects with the highest TAS scores. A subgroup with empathy disorder tended to have particularly high scores. It is concluded that alexithymia, as defined using the TAS-20, is found only in a subgroup of individuals with AN, and possibly more often in those who are also clinically diagnosed as suffering from empathy disorder. The TAS-20 is not suitable for screening of AN in the general population.
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| 4. |
- Depienne, Christel, et al.
(författare)
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Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
- 2009
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Ingår i: Biological Psychiatry. - : Elsevier BV. - 0006-3223. ; 66:4, s. 349-359
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD. METHODS: A total of 522 patients belonging to 430 families were screened for deletions, duplications, and methylation abnormalities involving 15q11-q13 with multiplex ligation-dependent probe amplification (MLPA). RESULTS: We identified four patients with 15q11-q13 abnormalities: a supernumerary chromosome 15, a paternal interstitial duplication, and two subjects with Angelman syndrome, one with a maternal deletion and the other with a paternal uniparental disomy. CONCLUSIONS: Our results show that abnormalities of the 15q11-q13 region are a significant cause of ASD, accounting for approximately 1% of cases. Maternal interstitial 15q11-q13 duplications, previously reported to be present in 1% of patients with ASD, were not detected in our sample. Although paternal duplications of chromosome 15 remain phenotypically silent in the majority of patients, they can give rise to developmental delay and ASD in some subjects, suggesting that paternally expressed genes in this region can contribute to ASD, albeit with reduced penetrance compared with maternal duplications. These findings indicate that patients with ASD should be routinely screened for 15q genomic imbalances and methylation abnormalities and that MLPA is a reliable, rapid, and cost-effective method to perform this screening.
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| 5. |
- Jansson, John-Olov, 1954, et al.
(författare)
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Body weight homeostat that regulates fat mass independently of leptin in rats and mice.
- 2018
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 1091-6490. ; 115:2, s. 427-432
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Tidskriftsartikel (refereegranskat)abstract
- Subjects spending much time sitting have increased risk of obesity but the mechanism for the antiobesity effect of standing is unknown. We hypothesized that there is a homeostatic regulation of body weight. We demonstrate that increased loading of rodents, achieved using capsules with different weights implanted in the abdomen or s.c. on the back, reversibly decreases the biological body weight via reduced food intake. Importantly, loading relieves diet-induced obesity and improves glucose tolerance. The identified homeostat for body weight regulates body fat mass independently of fat-derived leptin, revealing two independent negative feedback systems for fat mass regulation. It is known that osteocytes can sense changes in bone strain. In this study, the body weight-reducing effect of increased loading was lost in mice depleted of osteocytes. We propose that increased body weight activates a sensor dependent on osteocytes of the weight-bearing bones. This induces an afferent signal, which reduces body weight. These findings demonstrate a leptin-independent body weight homeostat ("gravitostat") that regulates fat mass.
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| 6. |
- Johansson, Maria E I, 1961, et al.
(författare)
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Autism spectrum conditions in individuals with Mobius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects.
- 2010
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Ingår i: Research in Developmental Disabilities. - : Elsevier BV. - 0891-4222 .- 1873-3379. ; 31:1, s. 9-24
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Tidskriftsartikel (refereegranskat)abstract
- As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.
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| 7. |
- Nygren, Gudrun, 1957, et al.
(författare)
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The Swedish version of the Diagnostic Interview for Social and Communication Disorders (DISCO-10). Psychometric properties.
- 2009
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Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 39:5, s. 730-741
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Tidskriftsartikel (refereegranskat)abstract
- Psychometric properties of the Diagnostic Interview for Social and Communication Disorders schedule (DISCO) have only been studied in the UK. The authorised Swedish translation of the tenth version of the DISCO (DISCO-10) was used in interviews with close relatives of 91 Swedish patients referred for neuropsychiatrical assessment. Validity analysis compared DISCO-10-algorithm diagnoses with clinical diagnoses and with Autism Diagnostic Interview Revised (ADI-R) algorithm diagnoses in 57 cases. Good-excellent inter-rater reliability was demonstrated in 40 cases of children and adults. The criterion validity was excellent when compared with clinical diagnoses and an investigator-based diagnostic interview. The DISCO-10 has good psychometric properties. Advantages over the ADI-R include valuable information of the broader autism phenotype and co-existing problems for clinical practice and research.
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| 8. |
- Strömland, Kerstin, 1934, et al.
(författare)
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CHARGE association in Sweden: malformations and functional deficits.
- 2005
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Ingår i: American journal of medical genetics. Part A. - : Wiley. - 1552-4825. ; 133:3, s. 331-9
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Tidskriftsartikel (refereegranskat)abstract
- CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.
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| 9. |
- Strömland, Kerstin, 1934, et al.
(författare)
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Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.
- 2007
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:12, s. 1317-1325
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Tidskriftsartikel (refereegranskat)abstract
- Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.
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| 10. |
- Tentler, Dmitry, et al.
(författare)
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A candidate region for Asperger syndrome defined by two 17p breakpoints
- 2003
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 11:2, s. 189-195
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Tidskriftsartikel (refereegranskat)abstract
- Asperger syndrome (AS) is a mild form of autistic disorder characterised by impairment in social interaction as well as a restricted pattern of behaviour, interests, and activities. Two patients with AS and balanced translocations t(13;17) and t(17;19), respectively, were identified. Fluorescent in situ hybridisation (FISH) analysis with chromosome 17 specific clones to metaphase chromosomes from both patients showed that the chromosome 17 breakpoints are located within a 300 kb region at 17p13. The region spans 14 known genes. The expression of these genes was analysed in lymphoblastoid RNA derived from the patients and healthy control individuals. The CHRNE, DKFZP566H073, LOC90048, PFN1, SPAG7, KIAA0909, ZNF232 and KIF1C genes showed similar levels of expression in cell lines with the translocations when compared with cell lines with normal karyotype. No expression was detected for the MINK, GP1BA, SLC25A11, ENO3, FLJ10060 and USP6 genes in any of the cell lines. The close physical relation of the two 17p breakpoints suggest a common genetic aetiology for the phenotype in the patients. Structural and functional analysis of the genes located around the two 17p breakpoints in t(13;17) and t(17;19) patients may reveal candidate sequences for the AS phenotype.
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| 11. |
- Åberg, N David, 1970, et al.
(författare)
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Peripheral administration of GH induces cell proliferation in the brain of adult hypophysectomized rats.
- 2009
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Ingår i: The Journal of endocrinology. - 1479-6805. ; 201:1, s. 141-50
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Tidskriftsartikel (refereegranskat)abstract
- IGF-I treatment has been shown to enhance cell genesis in the brains of adult GH- and IGF-I-deficient rodents; however, the influence of GH therapy remains poorly understood. The present study investigated the effects of peripheral recombinant bovine GH (bGH) on cellular proliferation and survival in the neurogenic regions (subventricular zone (SVZ), and dentate gyrus of the hippocampus), as well as the corpus callosum, striatum, parietal cortex, and piriform cortex. Hypopituitarism was induced in female rats by hypophysectomy, and the rats were supplemented with thyroxine and cortisone acetate. Subsequently, the rats received daily s.c. injections of bGH for either 6 or 28 days respectively. Following 5 days of peripheral bGH administration, the number of bromodeoxyuridine (BrdU)-positive cells was increased in the hippocampus, striatum, parietal cortex, and piriform cortex after 6 and 28 days. In the SVZ, however, BrdU-positive cells increased only after 28 days of bGH treatment. No significant change was observed in the corpus callosum. In the hippocampus, after 28 days of bGH treatment, the number of BrdU/NeuN-positive cells was increased proportionally to increase the number of BrdU-positive cells. (3)H-thymidine incorporation in vitro revealed that 24 h of bGH exposure was sufficient to increase cell proliferation in adult hippocampal progenitor cells. This study shows for the first time that 1) peripheral bGH treatment increased the number of newborn cells in the adult brain and 2) bGH exerted a direct proliferative effect on neuronal progenitor cells in vitro.
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| 12. |
- Andersson, G-B, et al.
(författare)
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Children with surgically corrected hand deformities and upper limb deficiencies: self-concept and psychological well-being.
- 2011
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Ingår i: The Journal of Hand Surgery, European Volume. - : SAGE Publications. - 0266-7681. ; 36:9, s. 795-801
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Tidskriftsartikel (refereegranskat)abstract
- We studied self-concept and psychological well-being in children with hand deformities and upper limb deficiencies. Ninety-two children, 53 boys, 39 girls, aged 9-11 years were included. The children were divided into two subgroups - one with milder (less visible) deformities and one with severe (more complex and visible) finger-hand-arm deformities. Of the 92 children, 79 had received reconstructive surgery, and 13 had been treated with prostheses. The Piers-Harris Children's Self-Concept Scale (PHCSCS) was used to measure self-esteem and well-being. Overall PHCSCS scores showed that the whole hand deformity group had 'good' self-concept with mean scores in excess of 60 points, equal to a comparison group of healthy children. Within the hand deformity group, those with mild deformities had lower scores than those with severe deformities. This result was also found in the group of boys but not in the girls. The children with severe deformities had even higher scores than the comparison group regarding the subscale 'Intellectual and School Status'. The children with milder deformities had lower scores than the comparison group regarding the subscale 'Popularity'.
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| 13. |
- Arvidsson, Thomas, et al.
(författare)
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Autism in 3-6-Year-Old Children in a Suburb of Goteborg, Sweden
- 1997
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Ingår i: Autism. - : SAGE Publications. - 1362-3613 .- 1461-7005. ; 1:2, s. 163-173
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Tidskriftsartikel (refereegranskat)abstract
- 1941 ofthe 3-6-year-old children living in a community outside Gbteborg on the Swedish west coast were screened with a view to identifying all individuals with severe degrees of autistic behaviour. All children in the population were known to well baby clinic staff, and any child suspected of suffering from autism was referred to a specialized clinical research team. The nurses and doctors working in the well baby clinics were well informed about autism. Clinical and ADI-R diagnoses of autism were established after thorough clinical assessments of each suspected case. All children were seen at least twice, and all were over the age of 3 years at the time of diagnosis. The general population prevalence for autism was 3 I in I o,ooo children (9; percent confidence interval 7/ g;). Classic Kanner autism was found in I o in Io,ooo children (9; percent confidence interval-4/24). These rates appear to reflect higher rates than previously reported. Some reasons for the possibly higher prevalence are discussed.
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| 14. |
- Gillberg, Christopher, 1950, et al.
(författare)
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Auditory Integration Training in Children with Autism : Brief Report of an Open Pilot Study
- 1997
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Ingår i: Autism. - : SAGE Publications. - 1362-3613 .- 1461-7005. ; 1:1, s. 97-100
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Tidskriftsartikel (refereegranskat)abstract
- Nine children aged 3-I 6 years with an autistic disorder were given auditory integration training for half-hour sessions during 10 days according to guidelines suggested by Guy Berard. No significant change in overall autistic symptom level could be documented 9 months later. However a small but non-significant reduction of 'sensory problems' as rated by the Autism Behaviour Checklist was noted.
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| 15. |
- Happé, Francesca, et al.
(författare)
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'Theory of mind' in the brain. Evidence from a PET scan study of Asperger syndrome.
- 1996
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Ingår i: Neuroreport. - 0959-4965. ; 8:1, s. 197-201
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Tidskriftsartikel (refereegranskat)abstract
- The ability to attribute mental states to others ('theory of mind') pervades normal social interaction and is impaired in autistic individuals. In a previous positron emission tomography scan study of normal volunteers, performing a 'theory of mind' task was associated with activity in left medial prefrontal cortex. We used the same paradigm in five patients with Asperger syndrome, a mild variant of autism with normal intellectual functioning. No task-related activity was found in this region, but normal activity was observed in immediately adjacent areas. This result suggests that a highly circumscribed region of left medial prefrontal cortex is a crucial component of the brain system that underlies the normal understanding of other minds.
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| 16. |
- Johansson, Maria E I, 1961
(författare)
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Autism syndromes in three behavioural phenotype conditions. A clinical psychiatric study of 76 individuals with Möbius sequence, CHARGE syndrome, and oculo-auriculo-vertebral spectrum
- 2007
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- AUTISM SYNDROMES IN THREE BEHAVIOURAL PHENOTYPE CONDITIONS A clinical psychiatric study of 76 individuals with Möbius sequence, CHARGE syndrome, and oculoauriculovertebral spectrum Maria Johansson Institute of Neuroscience and Physiology, Child and Adolescent Psychiatry, Göteborg University, Sweden Abstract Objectives: (1) Examine the prevalence of autism syndromes in three different Behavioural Phenotype Conditions (BPCs), (2) examine background and associated factors/conditions, and (3) describe and evaluate diagnostic difficulties in this field of research. Method: As part of multidisciplinary surveys of Möbius sequence (Möbius) (n=25), CHARGE syndrome (CHARGE) (n=31) and oculoauriculovertebral spectrum (OAV) (n=20), the occurrence of autism symptoms was assessed utilizing the DSM-III-R and DSM-IV checklists for autistic disorder (AD), the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behavior Checklist (ABC). Mental level was evaluated using standardized IQ tests or the Vineland Adaptive Behavior Scales. Results from previously performed radiological imaging/laboratory tests, and data on pre/perinatal nonoptimal conditions and family factors were scrutinized. The applicability of the autism diagnostic instruments used in individuals with multiple disabilities (such as in these BPCs) was analysed. Results: There was a high rate of autism syndromes (Möbius 48%, CHARGE 68%, OAV 42%) across all BPCs. Severe behaviour disturbances with major impact on family life were common in the individuals with autism syndromes, especially in the CHARGE group. Learning disability (LD) was a common finding (Möbius 32%, CHARGE 72%, OAV 25%), possibly reflecting the link between autism syndromes and LD. Visual and/or hearing impairments affected only a few subjects with Möbius, but were very common and associated with autism syndromes in the CHARGE/OAV groups. Cerebral abnormalities were recorded in one fifth of radiologically examined individuals with Möbius, 74% with CHARGE, and 63% with OAV. Autism syndromes, LD and cerebral abnormalities tended to occur together in the same individuals. Cranial nerve dysfunction was present in all Möbius individuals, in 55% of the CHARGE, and in 60% of the OAV group. Pre-, perinatal and/or family factors of possible interest were recorded in several individuals in each BPC. The diagnostics of autism syndromes in these BPCs presented difficulties, notably due to sensory impairments, cranial nerve palsies and LD. The diagnostic difficulties increased with the number and severity of disabilities. Discussion and conclusions: This study suggests that autism syndromes always should be considered in subjects with Möbius/CHARGE/OAV. In the CHARGE/OAV groups, cerebral abnormalities occurred frequently in subjects with autism syndromes, indicating that autism symptoms were not only attributable to sensory impairments. The frequent occurrence of cerebral abnormalities in those with autism syndromes, together with the fact that the majority of those with LD in all the three BPCs had an autism syndrome, could be suggestive of a specific link between autism syndromes and Möbius/CHARGE/OAV. The associated overall clinical findings, including the frequent occurrence of cranial nerve dysfunction found in all three BPCs, implicate the early embryonic brain, including the brain stem, as a possible area of core dysfunction. The use of an extensive battery of autism diagnostic instruments is essential in individuals with multiple disabilities. Current autism diagnostic instruments are insufficiently tailored to deaf-blind individuals. Key words: autism syndromes, behavioural phenotype conditions, Möbius, CHARGE, OAV, ADI-R, CARS, ABC, brain stem
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| 17. |
- Johansson, Maria E I, 1961, et al.
(författare)
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) Autistic spectrum disorders in Mobius sequence: a comprehensive study of 25 individuals
- 2001
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 43:5, s. 338-345
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Tidskriftsartikel (refereegranskat)abstract
- The prevalence of autistic disorder was analysed in 25 individuals with Möbius sequence, a disorder with brain-stem dysfunction. The sample consisted of 18 males and seven females (20 participants were aged 2 to 22 years, and five were aged 1, 19 and 23 months, and 55 years old). Participants were recruited after a nationwide call and were part of a multidisciplinary study of individuals with Möbius sequence. They were given a meticulous neuropsychiatric examination including standardized autism diagnostic interviews. Ten individuals had an autistic spectrum disorder. Six of these met all diagnostic criteria for autism. In 23 individuals cognitive development could be assessed. Eight of those 23 patients had clear learning disability and six individuals were functioning in the normal but subaverage range. Autistic spectrum disorder and learning disability occurred in more than a third of the examined patients. Considering the hospital-based nature of the sample, these findings may be overestimates. Nevertheless, awareness of this coexistence is important in the diagnosis and habilitation care of children with Möbius sequence. Moreover, the results provide further support for the notion of a subgroup of autistic spectrum disorders being caused by first trimester brain-stem damage.
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| 18. |
- Larsson, Martin, et al.
(författare)
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Diabetes negatively affects cortical and striatal GABAergic neurons: an effect that is partially counteracted by exendin-4.
- 2016
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Ingår i: Bioscience reports. - 1573-4935. ; 36:6
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Tidskriftsartikel (refereegranskat)abstract
- Type 2 diabetic (T2D) patients often develop early cognitive and sensorimotor impairments. The pathophysiological mechanisms behind these problems are largely unknown. Recent studies demonstrate that dysfunctional γ-aminobutyric acid (GABAergic) neurons are involved in age-related cognitive decline. We hypothesized that similar, but earlier dysfunction is taking place under T2D in the neocortex and striatum (two brain areas important for cognition and sensorimotor functions). We also hypothesized that the T2D-induced effects are pharmacologically reversible by anti-diabetic drugs targeting the glucagon-like peptide-1 receptor (GLP-1R). We determined the effect of T2D on cortical and striatal GABAergic neurons positive for glutamic acid decarboxylase-67 (GAD67), calbindin (CB), parvalbumin (PV) and calretinin (CR) by using immunohistochemistry and quantitative microscopy. Young and middle-aged T2D Goto-Kakizaki (GK) (a model of spontaneous T2D) and Wistar rats were used. Furthermore, we determined the therapeutic potential of the GLP1-R agonist exendin-4 (Ex-4) by treating middle-aged GK rats for 6weeks with 0.1μg/kg Ex-4 twice daily. We show that T2D reduced the density of GAD67-positive neurons in the striatum and of CB-positive neurons in both striatum and neocortex. T2D also increased the average volume of PV-positive interneurons in the striatum. Ex-4 treatment increased the density of CB-positive neurons in the striatum of GK rats. Our data demonstrate that T2D negatively affects GAD67 and CB-positive GABAergic neurons in the brain during aging, potentially identifying some of the pathophysiological mechanisms to explain the increased prevalence of neurological complications in T2D. We also show a specific, positive effect of Ex-4 on striatal CB-positive neurons, which could be exploited in therapeutic perspective.
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| 19. |
- Miller, Marilyn T, et al.
(författare)
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Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review.
- 2005
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Ingår i: International Journal of Developmental Neuroscience. - : Wiley. - 0736-5748 .- 1873-474X. ; 23:2-3, s. 201-219
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Tidskriftsartikel (refereegranskat)abstract
- Autism is a complex developmental disorder without an established single etiology but with significant contributions from genetic studies, functional research, and neuropsychiatric and neuroradiologic investigations. The purpose of this paper is to review the findings in five studies involving individuals manifesting the characteristic findings of autism spectrum disorder associated with malformations and dysfunctions known to result from early embryogenic defects. These investigations include two associated with teratogens (thalidomide embryopathy, Mobius sequence with misoprostol) and three (most Mobius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology. These studies suggest that early embryonic development errors often involving cranial nerve palsies, internal and external ear malformations, ophthalmologic anomalies, and a variety of systemic malformations may be associated with autism spectrum disorders statistically more frequently than expected in a normal population. Although the exact time of developmental insult for each condition cannot be identified, the evidence is that it may occur as early as week 4 to 6+ of embryogenesis.
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| 20. |
- Miller, Marilyn T, et al.
(författare)
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Autism with ophthalmologic malformations: the plot thickens.
- 2004
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Ingår i: Transactions of the American Ophthalmological Society. - 0065-9533. ; 102
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. METHODS: In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother's pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt. RESULTS: In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). CONCLUSION: Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.
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| 21. |
- Miller, Marilyn, T, et al.
(författare)
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The puzzle of autism: an ophthalmologic contribution.
- 1998
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Ingår i: Transactions of the American Ophthalmological Society. - 0065-9533. ; 96
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Tidskriftsartikel (refereegranskat)abstract
- A previous study of 86 thalidomide-affected subjects with ophthalmic manifestations revealed the unexpected finding of autism in 4 of the 5 severely retarded individuals. The subjects had anomalies associated with an early gestational effect of thalidomide, including facial nerve palsy and incomitant strabismus. Because autism has been observed in a few cases of Möbius sequence (Möbius syndrome), a condition characterized by involvement of the sixth and seventh cranial nerves, the similarity to early thalidomide embryopathy suggested a relation between cranial nerve involvement and autism. The present study was undertaken to further evaluate the association of autism with patients manifesting findings of Möbius syndrome.
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| 22. |
- Mjörnstedt, Filip, et al.
(författare)
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Alpha 7 Nicotinic Acetylcholine Receptor Agonist PHA 568487 Reduces Acute Inflammation but Does Not Affect Cardiac Function or Myocardial Infarct Size in the Permanent Occlusion Model
- 2024
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Ingår i: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - 1661-6596 .- 1422-0067. ; 25:8
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Tidskriftsartikel (refereegranskat)abstract
- Stimulation of the alpha 7 nicotinic acetylcholine receptor (alpha 7nAChR) has shown beneficial effects in several acute inflammatory disease models. This study aims to examine whether treatment with the selective alpha 7nAChR agonist PHA 568487 can dampen inflammation and thereby improve cardiac function after myocardial infarction in mice. The possible anti-inflammatory properties of alpha 7nAChR agonist PHA 568487 were tested in vivo using the air pouch model and in a permanent occlusion model of acute myocardial infarction in mice. Hematologic parameters and cytokine levels were determined. Infarct size and cardiac function were assessed via echocardiography 24 h and one week after the infarction. Treatment with alpha 7nAChR agonist PHA 568487 decreased 12 (CCL27, CXCL5, IL6, CXCL10, CXCL11, CXCL1, CCL2, MIP1a, MIP2, CXCL16, CXCL12 and CCL25) out of 33 cytokines in the air pouch model of acute inflammation. However, alpha 7nAChR agonist PHA 568487 did not alter infarct size, ejection fraction, cardiac output or stroke volume at 24 h or at 7 days after the myocardial infarction compared with control mice. In conclusion, despite promising immunomodulatory effects in the acute inflammatory air pouch model, alpha 7nAChR agonist PHA 568487 did not affect infarct size or cardiac function after a permanent occlusion model of acute myocardial infarction in mice. Consequently, this study does not strengthen the hypothesis that stimulation of the alpha 7nAChR is a future treatment strategy for acute myocardial infarction when reperfusion is lacking. However, whether other agonists of the alpha 7nAChR can have different effects remains to be investigated.
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| 23. |
- 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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| 24. |
- Ramberg, Chris, et al.
(författare)
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Language and pragmatic functions in school-age children on the autism spectrum
- 1996
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Ingår i: European Journal of Disorders of Communication. - 0963-7273. ; 31:4, s. 387-413
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Tidskriftsartikel (refereegranskat)abstract
- This study examined group differences in language and pragmatic functions across sex-, age- and IQ-matched samples of Asperger syndrome (N = 22), high-functioning autism (N = 11), deficits in attention, motor control and perception (DAMP) (N = 11), and speech and language disorder (SLD) (N = 11) groups. The purpose was to explore possible differentiating features in the fields of vocabulary, comprehension and pragmatics and, in addition, to determine whether Asperger syndrome could be reliably separated from high-functioning autism on these variables. The findings suggest that Asperger syndrome may be associated with higher full-scale and verbal IQ than high-functioning autism; Asperger syndrome may not be associated with better pragmatic skills (as defined in this context) than high-functioning autism; language comprehension may not clearly separate Asperger syndrome and high-functioning autism once the effects of very low IQ are partialled out; both DAMP and SLD can be distinctly separated from Asperger syndrome and autism.
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| 25. |
- Stridh, Linnea, 1983, et al.
(författare)
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Toll-Like Receptor-3 Activation Increases the Vulnerability of the Neonatal Brain to Hypoxia-Ischemia
- 2013
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Ingår i: Journal of Neuroscience. - : Society for Neuroscience. - 0270-6474 .- 1529-2401. ; 33:29, s. 12041-12051
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Tidskriftsartikel (refereegranskat)abstract
- Susceptibility and progression of brain injury in the newborn is closely associated with an exacerbated innate immune response, but the underlying mechanisms are often unclear. Toll-like receptors (TLRs) are important innate immune sensors that may influence the vulnerability of the developing brain. In the current study, we provide novel data to show that activation of the viral innate immune receptor TLR-3 sensitizes the neonatal brain to subsequent hypoxic-ischemic (HI) damage. Poly inosinic: poly cytidylic acid (Poly I: C), a synthetic ligand for TLR-3, was administered to neonatal mice 14 h before cerebral HI. Activation of TLR-3 before HI increased infarct volume from 3.0 +/- 0.5 to 15.4 +/- 2.1 mm(3) and augmented loss of myelin basic protein from 13.4 +/- 6.0 to 70.6 +/- 5.3%. The sensitizing effect of Poly I: C was specific for the TLR-3 pathway because mice deficient in the TLR-3 adaptor protein Toll/IL-1R domain-containing adaptor molecule-1 (TRIF) did not develop larger brain damage. The increased vulnerability was associated with a TRIF-dependent heightened inflammatory response, including proinflammatory cytokines, chemokines, and the apoptosis-associated mediator Fas, whereas there was a decrease in reparative M2-like CD11b(+) microglia and phosphorylation of Akt. Because TLR-3 is activated via double-stranded RNA during most viral infections, the present study provides evidence that viral infections during pregnancy or in the neonate could have great impact on subsequent HI brain injury.
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