| 1. |
- Wentz, Elisabet, 1964, et al.
(författare)
-
Bone density 11 years after anorexia nervosa onset in a controlled study of 39 cases.
- 2003
-
Ingår i: International Journal of Eating Disorders. - 0276-3478. ; 34:3, s. 314-318
-
Tidskriftsartikel (refereegranskat)abstract
- Objective To evaluate bone mineral density (BMD) and body composition 11 years after the onset of anorexia nervosa (AN). Method Thirty-nine AN subjects (36 females, 3 males), selected from a population-based sample, and 46 matched controls (COMP; 43 females, 3 males) were examined by using double-energy X-ray absorptiometry (DXA). Only 2 women still had AN. None of the men had AN. Results The females in the AN and COMP groups did not differ regarding BMD, nor was there a difference across female groups concerning body mass index (BMI). The female AN group had a significantly lower percentage of body fat. BMD among females in the AN group was related to lowest BMI ever. There was an inverse relationship between lumbar BMD and AN duration. Discussion Low BMD is not overrepresented among weight-restored AN patients at long-term follow-up compared with healthy women. However, the inverse relationship between BMD and AN duration may be indicative of a risk for osteopenia in patients with subchronic and chronic AN.
|
|
| 2. |
- Anckarsäter, Henrik, 1966, et al.
(författare)
-
Child neurodevelopmental and behavioural problems are intercorrelated and dimensionally distributed in the general population
- 2008
-
Ingår i: The Open Psychiatry Journal. - : Bentham Science Publishers Ltd.. - 1874-3544. ; 2, s. 5-11
-
Tidskriftsartikel (refereegranskat)abstract
- The Autism – Tics, AD/HD, and other Comorbidities inventory (A-TAC) is a comprehensive interview for evaluating problems related to autism spectrum disorders (ASD), tic disorders, attention-deficit/hyperactivity disorder (AD/HD), and common comorbid conditions in children and adolescents. A-TAC telephone interviews were administered to parents of 2,957 children aged nine- or twelve-years, representing one in each twin pair included in the population- based Child and Adolescent Twin Study in Sweden (CATSS). A total of 16.4% were screen-positive for one or several of the targeted disorder, 1.3% for ASD and 5.6% for AD/HD. All types of problems were more common among boys, with the exception of those related to “eating habits”. They were all dimensionally/continuously distributed, highly inter-correlated, and overlapped across types. They aggregated in three ba- sic factors corresponding to externalizing/disruptiveness, socio-communicative problems, and compulsiveness. Population-based data on problems in children thus challenge current categorical diagnostic definitions, calling for dimen- sional and complementary models of problem descriptions.
|
|
| 3. |
- Buxbaum, Joseph D, et al.
(författare)
-
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
- 2007
-
Ingår i: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-4841 .- 1552-485X. ; 144B:4, s. 484-491
-
Tidskriftsartikel (refereegranskat)abstract
- Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patients with ASDs and macrocephaly (defined as >or=2 SD above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions, as well as the promoter region. Dosage analysis of PTEN was carried out using multiplex ligation-dependent probe amplification (MLPA). No partial or whole gene deletions were observed. We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme macrocephaly (+9.6 SD) and polydactyly of both feet. Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. Our findings suggest that PTEN mutations are a relatively infrequent cause of ASDs with macrocephaly. Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes.
|
|
| 4. |
- Chaste, Pauline, et al.
(författare)
-
Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
- 2011
-
Ingår i: Journal of Pineal Research. - 0742-3098 .- 1600-079X. ; 51:4, s. 394-399
-
Tidskriftsartikel (refereegranskat)abstract
- Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration in melatonin signaling has been reported in a broad range of diseases, but little is known about the genetic variability of this pathway in humans. Here, we sequenced all the genes of the melatonin pathway -AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 - in 321 individuals from Sweden including 101 patients with attention-deficit/hyperactivity disorder (ADHD) and 220 controls from the general population. We could find several damaging mutations in patients with ADHD, but no significant enrichment compared with the general population. Among these variations, we found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A. These genetic and functional results represent the first comprehensive ascertainment of melatonin signaling deficiency in ADHD.
|
|
| 5. |
- Chaste, Pauline, et al.
(författare)
-
Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.
- 2010
-
Ingår i: PloS One. - : Public Library of Science (PLoS). - 1932-6203. ; 5:7
-
Tidskriftsartikel (refereegranskat)abstract
- Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of the melatonin pathway has been reported in circadian disorders, diabetes and autism spectrum disorders (ASD). However, very little is known about the genetic variability of melatonin receptors in humans. Here, we sequenced the melatonin receptor MTNR1A and MTNR1B, genes coding for MT1 and MT2 receptors, respectively, in a large panel of 941 individuals including 295 patients with ASD, 362 controls and 284 individuals from different ethnic backgrounds. We also sequenced GPR50, coding for the orphan melatonin-related receptor GPR50 in patients and controls. We identified six non-synonymous mutations for MTNR1A and ten for MTNR1B. The majority of these variations altered receptor function. Particularly interesting mutants are MT1-I49N, which is devoid of any melatonin binding and cell surface expression, and MT1-G166E and MT1-I212T, which showed severely impaired cell surface expression. Of note, several mutants possessed pathway-selective signaling properties, some preferentially inhibiting the adenylyl cyclase pathway, others preferentially activating the MAPK pathway. The prevalence of these deleterious mutations in cases and controls indicates that they do not represent major risk factor for ASD (MTNR1A case 3.6% vs controls 4.4%; MTNR1B case 4.7% vs 3% controls). Concerning GPR50, we detected a significant association between ASD and two variations, Delta502-505 and T532A, in affected males, but it did not hold up after Bonferonni correction for multiple testing. Our results represent the first functional ascertainment of melatonin receptors in humans and constitute a basis for future structure-function studies and for interpreting genetic data on the melatonin pathway in patients.
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
- Durand, Christelle. M., et al.
(författare)
-
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
- 2007
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:1, s. 25-27
-
Tidskriftsartikel (refereegranskat)abstract
- SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.
|
|
| 9. |
- Gillberg, Christopher, 1950, et al.
(författare)
-
Co-existing disorders in ADHD -- implications for diagnosis and intervention.
- 2004
-
Ingår i: European Child & Adolescent Psychiatry. - : Springer Science and Business Media LLC. - 1018-8827 .- 1435-165X. ; 13 Suppl 1
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: It is only recently that "comorbidity" in ADHD has come to the forefront as one of the most important aspects of the disorder. It is agreed that, often, these problems are at least as important as ADHD in contributing to the longer term outcome in the individual child. OBJECTIVE: To provide the reader with basic information about clinics and treatment of "comorbidity" in ADHD. METHOD: Review of the empirically based literature. RESULTS: ADHD exists in a surprisingly high frequency together with a broad range of child neuropsychiatric disorders. This is accompanied with many still unresolved treatment problems. CONCLUSION: It would not be appropriate to develop ADHD-services where clinicians would only have expertise in ADHD as such. Anyone working with children, adolescents and adults with ADHD would need to have training in general neuropsychiatry. Further research in this field is urgently needed.
|
|
| 10. |
- Gillberg, Christopher, 1950, et al.
(författare)
-
Overlap between ADHD and autism spectrum disorders in adults.
- 2011
-
Ingår i: In J.K. Buitelaar, C.C. Kan & P. Asherson (Eds.), ADHD in Adults. Characterization, Diagnosis, and Treatment. - Cambridge : Cambridge University Press. - 9780521864312 ; , s. 157-167
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Autism was long considered to be a very rare disorder, the best defined in child psychiatry (Rutter & Schopler, 1992), and one that occurred in isolation, often with no comorbidity (except, possibly, mental retardation) and presumably with one etiology. It is now clear that autism in its classic variant is but part of a broader spectrum of disorders that include not only “autistic disorder” (as defined by DSM-IV) but also a number of conditions, including Asperger disorder and so-called pervasive developmental disorders not otherwise specified (PDDNOS)/atypical autism (Wing & Potter, 2002). It has also become generally accepted that these “autism spectrum disorders” (ASDs, including autistic disorder) are much more common than previously assumed, with overall childhood prevalence usually reported at just under 1% (Gillberg et al., 2006). To complicate things, genetic studies have shown that ASDs extend into “lesser variants” and “broader phenotypes” with some characteristic autism features but with little or no clinical impairment. Population studies suggest that such lesser variants or features of autism occur in several percent of children (Briskman, Happé, & Frith, 2001; Constantino & Todd, 2003; Posserud et al., 2006). The comorbidity issue in autism has not been resolved, and authorities in the field still argue about whether autism can be associated with other disorders, including ADHD. Both the DSM-IV and ICD-10 include a section of the diagnostic criteria that is difficult to interpret but that would tend to make researchers and clinicians loathe to diagnose coexisting/comorbid ADHD in ASD. Conversely, ADHD has long been agreed to be a common type of childhood behavior disorder and one that does blend into normality.
|
|
