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| 2. |
- 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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| 3. |
- 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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| 4. |
- 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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| 5. |
- 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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| 6. |
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| 7. |
- 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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| 8. |
- 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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| 9. |
- 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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| 10. |
- Kopp, Svenny, 1948
(författare)
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Girls with social and/or attention impairments
- 2010
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Background: This study set out to increase knowledge about the clinical presentation, impairment level, associated problems, and screening/identification of girls coming to clinics with non-specified social and/or attention deficits. Material and methods: An in-depth case study of six girls presenting to clinicians with social deficits had showed that they all met criteria for autism, in spite of the fact that this diagnosis had not previously been considered. This led to the planning of a much bigger study including in-depth assessment of one hundred girls referred for social and/or attention/academic problems and a matched group of sixty girls from the community. The clinical assessments were all performed by the author and a small group of paramedical colleagues, consisting of neuropsychologists, educationalists, physiotherapists, and a social worker. A new autism spectrum screening instrument (the ASSQ-REV, an expanded version of the well validated autism screening tool ASSQ) aimed at identifying girls with previously unrecognised features of autism was developed and tested among school age girls from the Clinic group, and among matched Clinic boys and Community girls. Results: The main results indicated that when girls present with impairing social and/or attention deficit problems, they usually (in more than ninety per cent of the cases) have autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD) or both. Community girls meet criteria for such disorders only in a few per cent of all cases. Parents had usually noticed deviant development or behavioural problems before child age three years, and 47% had consulted a professional before age four (without being adequately helped or understood). The mean child age for a main diagnosis of ASD or ADHD was 8.8 years and 13.0 years, respectively. Clinic girls with ASD usually have co-existing symptoms of ADHD, amounting to full clinical diagnostic status, and at least one of four Clinic girls with ADHD show autistic traits. The ASD and ADHD groups had the same high rates of psychiatric comorbidity, including oppositional defiant disorder, anxiety and/or depressive conditions as well as impairing sleep problems. In addition, they very often have mild-moderate motor control problems, amounting to impairing developmental coordination disorder in a large minority of all cases. Other frequently experienced consequences for school-age girls with ASD and/or ADHD are underachievement and bullying in school settings. Girls with ASD had more problems with global functioning and adaptive levels of daily living skills than girls with ADHD. The ASSQ-REV screening tool does not appear to work better than the ASSQ in identifying girls with ASD. However, certain individual items from the ASSQ-REV seem to work well in separating boys and girls with ASD. Discussion: Most girls with clinically relevant social and/or attention deficits (presenting at clinics before adult age) usually have ASD, ADHD or a combination of the two. Taking into account the early (or very early) onset of a variety of symptoms and the severe consequences of them, every girl assessed for such problems or “unexplained” low global functioning should promptly be worked up from the point of view of confirming or refuting diagnoses of these disorders. In addition, once the ASD and/or ADHD has been identified, it is essential to continue with a broad assessment battery including motor control tests, reading and writing tests, and interview and observation with a view to identifying co-existing psychiatric disorders such as oppositional defiant disorder, anxiety disorder, depressive states, obsessive-compulsive disorders and sleep disorder. The ASSQ-REV did not increase precision in targeting girls with ASD, but individual items from this instrument clearly separated girls with ASD from boys with ASD (and Community girls without psychiatric problems). These items should be considered for inclusion together with existing screening instruments for ASD and other neuropsychiatric disorders so that more girls with “hidden” neurodevelopmental impairment might be recognised at early school age at the very latest. A better understanding of girls’ neuropsychiatric symptoms is needed in health care and in school settings. Key words: Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder (ADHD), girls, psychiatric comorbidity, Developmental Coordination Disorder (DCD), Reading/Writing Disorder (RWD), school situation, Autism Spectrum Screening Questionnaire (ASSQ), ASSQ-REV
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