| 41. |
- Gillberg, I Carina, 1949, et al.
(författare)
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Three-year follow-up at age 10 of children with minor neurodevelopmental disorders. I: Behavioural problems.
- 1983
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Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 25:4, s. 438-449
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Tidskriftsartikel (refereegranskat)abstract
- Sixty-one children selected from a total population study of six-year-old children in Gothenburg and diagnosed as suffering from minimal brain dysfunction (MBD), motor perception dysfunction (MPD) or attention deficit disorder (ADD), and 51 normal control children were followed up at age 10 for behavioural problems. According to teachers', parents' and self-rating questionnaires, the index children, especially those with MBD, showed extremely high rates of severe behavioural/experiential problems at follow-up. None had been treated with stimulants or other drugs directed at alleviating the symptoms of the neurodevelopmental disorder. It is argued that the high rates of disturbances according to the questionnaire ratings are a true reflection of the psychiatric ill-health in these children.
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| 42. |
- Gillberg, I Carina, 1949, et al.
(författare)
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Three-year follow-up at age 10 of children with minor neurodevelopmental disorders. II: School achievement problems.
- 1983
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Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 25:5, s. 566-573
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Tidskriftsartikel (refereegranskat)abstract
- Part I of this paper considered the behavioural problems at age 10 of groups of children from a total population study of six-year-old children in Gothenburg and diagnosed according to strict criteria as suffering from minimal brain dysfunction (MBD), motor perception dysfunction (MPD) or attention deficit disorder (ADD), and a comparison group of normal children. Part II considers school achievement problems at age 10 among the same groups of children. 80 per cent of MBD children had obvious problems in school achievement, compared with 16 per cent in the comparison group. The MPD and ADD groups did not differ significantly from the comparison group in this respect. There was a considerable overlap between behaviour problems and school achievement problems, and the results indicate a gloomy prognosis for both types of problem among children with MBD.
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| 43. |
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| 44. |
- Gong, Xiaohong, et al.
(författare)
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An investigation of ribosomal protein L10 gene in autism spectrum disorders.
- 2009
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Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1, implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10) gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD. Moreover, functional studies of mutant RPL10 in yeast exhibited aberrant ribosomal profiles. These results provided a novel aspect of disease mechanisms for autism - aberrant processes of ribosome biosynthesis and translation. To confirm these initial findings, we re-sequenced RPL10 exons and quantified mRNA transcript level of RPL10 in our samples. METHODS: 141 individuals with ASD were recruited in this study. All RPL10 exons and flanking junctions were sequenced. Furthermore, mRNA transcript level of RPL10 was quantified in B lymphoblastoid cell lines (BLCL) of 48 patients and 27 controls using the method of SYBR Green quantitative PCR. Two sets of primer pairs were used to quantify the mRNA expression level of RPL10: RPL10-A and RPL10-B. RESULTS: No non-synonymous mutations were detected in our cohort. Male controls showed similar transcript level of RPL10 compared with female controls (RPL10-A, U=81, P=0.7; RPL10-B, U=61.5, P=0.2). We did not observe any significant difference in RPL10 transcript levels between cases and controls (RPL10-A, U=531, P=0.2; RPL10-B, U=607.5, P=0.7). CONCLUSION: Our results suggest that RPL10 has no major effect on the susceptibility to ASD.
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| 45. |
- Gong, Xiaohong, et al.
(författare)
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Analysis of X chromosome inactivation in autism spectrum disorders.
- 2008
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Ingår i: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-485X .- 1552-4841. ; 147B:6, s. 830-835
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked syndromes. In this study, we aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 163 affected girls. The XCI pattern was also determined in two control groups (144 adult females and 40 young females) with a similar age distribution to the mothers sample and affected girls sample, respectively. We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (> or = 80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z-score of 1.75 close to rs719489. In summary, our results suggest that there is no major X-linked gene subject to XCI and expressed in blood cells conferring susceptibility to ASD. However, the possibility that rare mutations in X-linked genes could contribute to ASD cannot be excluded. We propose that the XCI profile could be a useful criteria to prioritize families for mutation screening of X-linked candidate genes.
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| 46. |
- Hansson, Sara Lina, et al.
(författare)
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Psychiatric telephone interview with parents for screening of childhood autism - tics, attention-deficit hyperactivity disorder and other comorbidities (A-TAC): preliminary reliability and validity.
- 2005
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Ingår i: The British Journal of Psychiatry. - : Royal College of Psychiatrists. - 0007-1250 .- 1472-1465. ; 187, s. 262-267
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Reliable, valid and easily administered screening instruments would greatly facilitate large-scale neuropsychiatric research. AIMS: To test a parent telephone interview focused on autism - tics, attention-deficit hyperactivity disorder (ADHD) and other comorbidities (A-TAC). METHOD: Parents of 84 children in contact with a child neuropsychiatric clinic and 27 control children were interviewed. Validity and interrater and test - retest reliability were assessed. RESULTS: Interrater and test - retest reliability were very good. Areas under receiver operating characteristics curves between interview scores and clinical diagnoses were around 0.90 for ADHD and autistic spectrum disorders, and above 0.70 for tics, learning disorders and developmental coordination disorder. Using optimal cut-off scores for autistic spectrum disorder and ADHD, good to excellent kappa levels for interviews and clinical diagnoses were noted. CONCLUSIONS: The A-TAC appears to be a reliable and valid instrument for identifying autistic spectrum disorder, ADHD, tics, learning disorders and developmental coordination disorder.
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| 47. |
- Hansson, Sara Lina, et al.
(författare)
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The Autism--Tics, AD/HD and other Comorbidities (A-TAC) telephone interview: convergence with the Child Behavior Checklist (CBCL).
- 2010
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Ingår i: Nordic Journal of Psychiatry. - : Informa UK Limited. - 0803-9488 .- 1502-4725. ; 64:3, s. 218-224
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To compare telephone interview screening for child psychiatric/neuropsychiatric disorders using the inventory of Autism-Tics, Attention deficit/hyperactivity disorder (AD/HD) and other Comorbidities (A-TAC) with results from the Child Behavior Checklist (CBCL). Background: The A-TAC is a parent telephone interview focusing on autism spectrum disorders (ASDs) and co-existing problems, developed for lay interviewers. Subjects and methods: A-TAC telephone interviews and CBCL questionnaires were obtained from parents of 106 Swedish twin pairs aged 9 and 12 years. Results: Correlations between A-TAC modules and CBCL scales aimed at measuring similar concepts were generally significant albeit modest, with correlation coefficients ranging from 0.30 through 0.55. Conclusion: The A-TAC has convergent validity with the CBCL in several problem areas, but the A-TAC also provides more detailed and specific assessments of ASD symptoms and related neuropsychiatric problems.
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| 48. |
- Helles, Adam, et al.
(författare)
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Asperger syndrome in childhood – personality dimensions in adult life: temperament, character and outcome trajectories
- 2016
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Ingår i: BJPsych Open. - : Royal College of Psychiatrists. - 2056-4724. ; 2:3, s. 210-216
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Tidskriftsartikel (refereegranskat)abstract
- Background Temperament and character have been shown to be important factors in understanding psychiatric and neurodevelopmental disorder. Adults with autism spectrum disorder (ASD) have repeatedly been shown to have a distinct temperament and character, but this has not been evaluated in relation to psychiatric comorbidity and ASD diagnostic stability. Aims To examine temperament and character in males that were diagnosed with ASD in childhood and followed prospectively over almost two decades. Method Temperament and character were assessed in 40 adult males with a childhood diagnosis of ASD. Results were analysed by the stability of ASD diagnosis over time and current psychiatric comorbidity. Results Three distinct temperament and character profiles emerged from the data. Those no longer meeting criteria for ASD had high reward dependence while those with a stable ASD diagnosis and psychiatric comorbidity showed elevated harm avoidance and low self-directedness and cooperativeness. Finally, those with a stable ASD and no comorbidity showed low novelty seeking and somewhat elevated harm avoidance. Conclusions Temperament and character are important factors correlated with long-term diagnostic stability and psychiatric comorbidity in males diagnosed with ASD in childhood.
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| 49. |
- Helles, Adam, et al.
(författare)
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Asperger syndrome in males over two decades: Quality of life in relation to diagnostic stability and psychiatric comorbidity
- 2017
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Ingår i: Autism. - : SAGE Publications. - 1362-3613 .- 1461-7005. ; 21:4, s. 458-469
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Tidskriftsartikel (refereegranskat)abstract
- This study examined objective quality of life (work, academic success, living situation, relationships, support system) and subjective quality of life (Sense of Coherence and Short-Form Health Survey-36) in an adult sample of males (n = 50, mean age: 30 years) with Asperger syndrome diagnosed in childhood and followed prospectively over two decades. The association between long-term diagnostic stability of an autism spectrum disorder and/or comorbid psychiatric disorders with quality of life was also examined. The results showed great variability as regards quality of life. The subsample that no longer fulfilled an autism spectrum disorder had full-time jobs or studies (10/11), independent living (100%), and reported having two or more friends (100%). In the stable autism spectrum disorder group, 41% had full-time job or studies, 51% lived independently, and 33% reported two or more friends, and a significant minority had specialized employments, lived with support from the government, or had no friends. Academic success was positively correlated with IQ. A majority of the total group scored average Sense of Coherence scores, and the mean for Short-Form Health Survey-36 was above average regarding psychical health and below average regarding mental health. Stability of autism spectrum disorder diagnosis was associated with objective but not subjective quality of life, while psychiatric comorbidity was associated with subjective but not objective quality of life.
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| 50. |
- Helles, Adam, et al.
(författare)
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Asperger syndrome in males over two decades: stability and predictors of diagnosis.
- 2015
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Ingår i: Journal of child psychology and psychiatry, and allied disciplines. - : Wiley. - 1469-7610 .- 0021-9630. ; 56:6, s. 711-718
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To examine the diagnostic stability of a childhood diagnosis of Asperger Syndrome (AS) into adulthood in a prospective longitudinal study, and identify the predictors of stability. METHODS: One hundred males with AS diagnosed in childhood (T0) according to Gillberg's AS criteria, were followed up prospectively into adulthood over an average of 19 years (range 13-26 years). Fifty males (mean age 30 years) participated in this second follow-up (T2) of the cohort. Seventy-six had participated in a previous follow-up (T1) at mean age 22 years (47 participated in both follow-ups). Diagnosis at T2 was assessed using three sets of diagnostic criteria (Gillberg's AS criteria, DSM-IV Pervasive Developmental Disorder (PDD) and DSM-5 Autism Spectrum Disorder (ASD) criteria) and compared to previous assessments. Background predictors of diagnostic stability were analyzed. General functioning at T2 was assessed and compared to T1. RESULTS: There was a decline in the stability of AS diagnosis over time, the rate dropping from 82% at T1 to 44% at T2, when using the Gillberg criteria. There was also a significant decrease in the rate of cases fulfilling any PDD diagnosis according to the DSM-IV, from 91% at T1 to 76% at T2 in the 47 cases followed up twice. Severity of autism spectrum symptoms at T1 was the main predictor of diagnostic stability at T2. Twenty percent of those meeting criteria for a PDD diagnosis according to DSM-IV, did not meet DSM-5 ASD criteria although they had marked difficulties in everyday life. CONCLUSION: Asperger Syndrome, when considered as an ASD/PDD diagnosis, was fairly stable into adulthood, but there was a significant increase over time in cases no longer meeting criteria for an ASD diagnosis according to the DSM-IV, or AS according to the Gillberg criteria. Cases with a stable diagnosis showed significantly more core ASD symptoms in adolescence/young adulthood.
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