| 1. |
- 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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| 2. |
- Asztély, Karin, et al.
(författare)
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Chronic pain and health-related quality of life in women with autism And/or ADHD: A prospective longitudinal study
- 2019
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Ingår i: Journal of Pain Research. - 1178-7090. ; 12, s. 2925-2932
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To investigate the prevalence of chronic pain and its association with healthrelated quality of life (HRQoL) in a group of women, diagnosed with autism spectrum disorder (ASD) and/or attention deficit hyperactive disorder (ADHD) in childhood. Patients and methods: Prospective longitudinal 16-19 years follow-up study of 100 Swedish females diagnosed with ASD and/or ADHD in childhood/adolescence. Seventyseven of the women were included in the current sub-study, using validated measures of pain perception and quality of life. Results: A large majority of the women (76.6%) reported chronic pain. HRQoL was low overall and lower still for those reporting chronic pain. Women with ADHD who had ongoing treatment with stimulants reported a significant lower prevalence of chronic widespread pain (CWP) than those not treated. Conclusion: Comorbidity with chronic pain is common in women with ASD and/or ADHD and important to address in the clinic since it is associated with an already low HRQoL. Treatment for ADHD might reduce the pain in some cases. © 2019 Asztély et al.
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| 3. |
- 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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| 4. |
- Gillberg, Christopher, 1950, et al.
(författare)
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Long-term stimulant treatment of children with attention-deficit hyperactivity disorder symptoms. A randomized, double-blind, placebo-controlled trial.
- 1997
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Ingår i: Archives of general psychiatry. - : American Medical Association (AMA). - 0003-990X. ; 54, s. 857-
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Tidskriftsartikel (refereegranskat)abstract
- Background: We wanted to study the effects of amphetamine on symptoms of attention-deficit hyperactivity disorder (ADHD) over a longer period than has been reported in previous studies of central stimulants in this condition. Methods: Sixty-two children, aged 6 to 11 years, meeting DSM-III-R symptom criteria for ADHD participated in a parallel-group design, randomized, double-blind, placebo-controlled study of amphetamine treatment. Treatment was not restricted to children with "pure" ADHD, ie, some had comorbid diagnoses. In the amphetamine group, children received active treatment for 15 months. Results: Amphetamine was clearly superior to placebo in reducing inattention, hyperactivity, and other disruptive behavior problems and tended to lead to improved results on the Wechsler Intelligence Scale for Children—Revised. Treatment failure rate was considerably lower and time to treatment failure was longer in the amphetamine group. Adverse effects were few and relatively mild. Conclusion: The results of this long-term, placebo-controlled study of the central stimulant amphetamine in the treatment of ADHD indicate that there are remaining positive effects of the drug 15 months after starting treatment.
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| 5. |
- Kopp, Svenny, 1948, et al.
(författare)
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Developmental coordination disorder and other motor control problems in girls with autism spectrum disorder and/or attention-deficit/hyperactivity disorder.
- 2010
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Ingår i: Research in Developmental Disabilities. - : Elsevier BV. - 0891-4222. ; 31:2, s. 350-361
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Tidskriftsartikel (refereegranskat)abstract
- Examine the rate, predictors, and effect on daily life skills of developmental coordination disorder (DCD) and other motor control difficulties in school age girls with autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD), in preschool age girls with ASD referred to a neuropsychiatric clinic, and in a community sample of school age girls. The girls (131 in total) were examined with standardised test of motor function and parent interviews and questionnaires. The school girls were compared with 57 age-and IQ-matched girls from the community. DCD was diagnosed in 25% of clinic school girls with ASD, in 32% of those with ADHD, and in 80% of the clinic preschool girls with ASD. Parents reported more motor problems in the school age clinic group. Agreement between a brief motor screening test and a full comprehensive motor examination was moderate to good in the clinic group. Young age, autistic symptomatology, and low performance IQ predicted more motor coordination problems. Motor coordination problems were related to lower ability in daily life skills even when the effect of PIQ was controlled for. A large minority of school girls with ASD and/or ADHD, and a majority of preschool girls with ASD meet full diagnostic criteria for DCD. Their motor problems contribute to reduced activity in daily life even when the effects of IQ have been partialled out.
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| 6. |
- Kopp, Svenny, 1948, et al.
(författare)
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Girls With Social and/or Attention Deficit Re-Examined in Young Adulthood: Prospective Study of Diagnostic Stability, Daily Life Functioning and Social Situation
- 2023
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Ingår i: Journal of Attention Disorders. - : SAGE Publications. - 1087-0547 .- 1557-1246. ; 27:8, s. 830-846
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Investigate diagnostic stability, daily life functioning and social situation in women diagnosed with ADHD and/or ASD in childhood. Methods: Prospective 17 to 20-year follow-up study of 100 girls of whom 92 diagnosed in childhood with main DSM-IV ADHD or ASD, and 60 comparison girls. Ninety and 54 of these women were examined (M = 27, 4 years old) with semi-structured interviews and questionnaires, close relatives were interviewed. Results: At follow-up, 89% of women with ADHD or ASD in childhood still met the criteria for either of these diagnoses. Very few women were “in remission.” In 34% the main diagnosis shifted from ADHD to ASD. Women with ADHD and ASD had significantly more disability and unfavorable social situation than comparison women. Conclusion: Women with ADHD and/or ASD in childhood had impairing problems 17 to 20 years later. Early ADHD changed to ASD in adulthood in some cases. Nearly all with ASD met criteria for ADHD as adults.
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| 7. |
- Kopp, Svenny, 1948, et al.
(författare)
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Girls with social and/or attention deficits: a descriptive study of 100 clinic attenders.
- 2010
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Ingår i: Journal of Attention Disorders. - : SAGE Publications. - 1087-0547 .- 1557-1246. ; 14:2, s. 167-181
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Examine clinical correlates and distinguishing features of autism spectrum disorders (ASD), ADHD, and tic disorders in girls referred for social impairment, attention/academic deficits, and/or tics. Method: One hundred 3- to 18-year-old girls referred for social impairment and attention symptoms were assessed in detail. Sixty of these girls, 7 to 16 years of age (IQ >/= 80) were compared with age-matched girls (IQ >/= 80) from the community. Results: Main diagnoses of ASD, ADHD, tic disorders, and "other psychiatric disorder" were made in 46, 46, 3, and 5, respectively, of the referred girls. The ASD and ADHD groups (mean age at diagnosis 8.8 and 13.0 years, respectively) had the same types and high rates of psychiatric comorbidity. Girls with ASD had more problems with global functioning and adaptive levels of daily living skills than girls with ADHD. Differences between these girls referred for investigation and the community sample of girls were very considerable across a range of factors. Conclusions: Girls referred for social and/or attention deficits usually meet diagnostic criteria for either ASD or ADHD. They have severe psychiatric comorbidities and low global levels of functioning.
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| 8. |
- Kopp, Svenny, 1948, et al.
(författare)
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Girls with social deficits and learning problems: Autism, atypical Asperger syndrome or a variant of these conditions
- 1992
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Ingår i: European Child and Adolescent Psychiatry. - 1018-8827 .- 1435-165X. ; 1:2, s. 89-99
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Tidskriftsartikel (refereegranskat)abstract
- Six girls aged 6--10 years meeting criteria for autistic disorder are presented. They were all high-functioning in that they had IQs ha the 60-100 range and spoke in complicated sentences. Their clinical picture had not led a variety of specialists to consider an autism diagnosis before age 6 years in spite of the fact that they had shown mild motor delays, uncharacteristic developmental deviance and social, communicative and imaginative deficits already before age 2 years in all cases. It is suggested that the autism phenotype might be different in girls as compared with boys. It is further speculated that if female cases such as those described - and others given a whole host of different diagnostic labels - were only considered for an autism diagnosis, the high male:female ratio traditionally encountered in autism might drop considerably.
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| 9. |
- Kopp, Svenny, 1948, et al.
(författare)
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Selective mutism: a population-based study: a research note.
- 1997
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Ingår i: Journal of Child Psychology and Psychiatry, and Allied Disciplines. - : Wiley. - 0021-9630. ; 38:2, s. 257-262
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Tidskriftsartikel (refereegranskat)abstract
- Seven-year-olds to 15-year-olds in 2 school districts of Göteborg, Sweden, were screened for selective mutism by their teachers and follow-up was achieved for a full school year. Three girls and 2 boys met DSM-IV criteria for selective mutism and a further 25 had a combination of shyness and reticence that did not amount to clinical disorder. The rate of typical selective mutism was 18 in 10,000 children. Shyness/reticence occurred in 89 in 10,000 children. Selective mutism was more common than suggested by earlier studies. Teachers of school age children need to be better informed about its existence.
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| 10. |
- Kopp, Svenny, 1948, et al.
(författare)
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Swedish child and adolescent psychiatric out-patients--a five-year cohort.
- 2003
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Ingår i: European Child and Adolescent Psychiatry. - : Springer Science and Business Media LLC. - 1018-8827 .- 1435-165X. ; 12:1, s. 30-35
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Tidskriftsartikel (refereegranskat)abstract
- Publications of Swedish child and adolescent psychiatric out-patients have been scarce. This study is aimed to give a picture of conditions in a child and adolescent psychiatric out-patient setting by reporting five-year data from a five-year cohort of first-time visits. All first-visits, 0-18 years of age, where screened retrospectively for background factors, symptoms, diagnoses and types of treatment. Six hundred and ten patients were registered during the period. The estimated accumulated prevalence for 19-year-olds were 19,7 %. Nearly half of them were seen 1-3 times. A small group, 2,5 %, accounted for about 20 % of all consultations. No or mild psychosocial stress was registered in 37 % of the cases. A neuropsychiatric main diagnosis was found for 27 % (2,1:1, boys:girls) and depression and anxiety for 20 % [0, 5:1] of the index-cases. These findings show that 5,6 % of children applied for child and adolescent psychiatric help during a five-year period. Almost one third had a neuropsychiatric disorder. The results indicate that ADHD is one of the most common causes both among boys and girls to seek help in a child and adolescent out-patient clinic.
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