1. Lakshmi Priya MD, Geetha A, Suganya V, Sujatha S. {{Abnormal circadian rhythm and cortisol excretion in autistic children: a clinical study}}. {Croat Med J};2013 (Feb 15);54(1):33-41.
Aim. To determine the circadian rhythm alteration of cortisol excretion and the level of corticosteroids in children with different grades of autism severity. Methods. The study included 45 children with different grades of autism severity (low [LFA], medium [MFA], and high functioning autism [HFA]), 15 in each group, and 45 age/sex-matched children with typical development. The urinary levels of free cortisol (at three phases of 24-hour cycle), corticosteroids, vanilylmandelic acid, and 5-hydroxyindole acetic acid were determined. Results. Alteration in the pattern of cortisol excretion (Phases I, II, and III) was observed in children with LFA (Phase I: 43.8+/-4.43 vs 74.30+/-8.62, P=0.000; Phase II: 21.1+/-2.87 vs 62+/-7.68, P<0.001; Phase III: 9.9+/-1.20 vs 40+/-5.73, P<0.001) and MFA (Phase I: 43.8+/-4.43 vs 52.6+/-7.90, P<0.001; Phase II: 21.1+/-2.87 vs 27.4+/-4.05, P<0.001; Phase III: 9.9+/-1.20 vs 19+/-2.50, P<0.001) compared to the control group. The corticosteroids excretion levels were higher in all the groups of children with autism than in the control group. The level of 5-hydroxyindole acetic acid was significantly higher in children with LFA (8.2+/-1.48 vs 6.8+/-0.85, P<0.001) and MFA (8.2+/-1.48 vs 7.4+/- 0.89, P=0.001) and not significantly higher in children with HFA than in the control group. The changes were correlated with degrees of severity of the disorder. Conclusion. These data suggest that altered cortisol excretion pattern and high level of corticosteroids in urine may probably be a consequence of altered hypothalamic-pituitary-adrenal axis function, which may contribute to the pathogenesis and affect the severity of autism.
2. Nolin SL, Sah S, Glicksman A, Sherman SL, Allen E, Berry-Kravis E, Tassone F, Yrigollen C, Cronister A, Jodah M, Ersalesi N, Dobkin C, Brown WT, Shroff R, Latham GJ, Hadd AG. {{Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles}}. {Am J Med Genet A};2013 (Feb 26)
We investigated the effect of AGG interruptions on fragile X repeat instability upon transmission of fragile X intermediate and small premutation alleles with 45-69 CGG repeats. The FMR1 repeat structure was determined for 375 mothers, 48 fathers, and 538 offspring (457 maternal and 81 paternal transmissions) using a novel PCR assay to determine repeat length and AGG interruptions. The number of AGG interruptions and the length of uninterrupted CGG repeats at the 3′ end were correlated with repeat instability on transmission. Maternal alleles with no AGGs conferred the greatest risk for unstable transmissions. All nine full mutation expansions were inherited from maternal alleles with no AGGs. Furthermore, the magnitude of repeat expansion was larger for alleles lacking AGG interruptions. Transmissions from paternal alleles with no AGGs also exhibited greater instability than those with one or more AGGs. Our results demonstrate that characterization of the AGG structure within the FMR1 repeat allows more accurate risk estimates of repeat instability and expansion to full mutations for intermediate and small premutation alleles. (c) 2013 Wiley Periodicals, Inc.
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3. Sagar A, Bishop JR, Tessman DC, Guter S, Martin CL, Cook EH. {{Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion}}. {Am J Med Genet A};2013 (Feb 26)
Some copy number variants (CNVs) are strongly implicated in both schizophrenia and autism spectrum disorders (ASDs). Childhood-onset schizophrenia (COS) occurs rarely with 0.1-1% of all schizophrenia diagnoses manifesting before age 10. 3q29 deletions are associated with both autism and schizophrenia, and are rare-the frequency of the deletion estimated to be 1 in 1,750 in developmental disorders. Only one patient with a 3q29 deletion was identified out of the first 1,174 families with ASDs included in the Simons Simplex Collection (SSC). We report on detailed clinical findings for this patient with a de novo 3q29 deletion who, as a young child, developed a very rare overlap of symptoms of both autism and early onset psychosis. His ASD was first diagnosed at the age of 4 years and his psychotic symptoms began at 5 years old. This is only the second case reported thus far of this rare event of co-occurring autism and very early onset psychosis in a child with a 3q29 deletion. It is also the earliest case of a child with autism developing comorbid psychosis-manifesting by the age of 5 years. (c) 2013 Wiley Periodicals, Inc.
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4. Torralva T, Gleichgerrcht E, Roca M, Ibanez A, Marenco V, Rattazzi A, Manes F. {{Impaired theory of mind but intact decision-making in Asperger syndrome: Implications for the relationship between these cognitive domains}}. {Psychiatry Res};2013 (Feb 28);205(3):282-284.
The relationship between decision making and theory of mind (TOM) has been hardly investigated in patients with Asperger Syndrome (AS). Here, we show that the AS group (n=25) exhibited deficits on a complex TOM task, yet were unimpaired in a decision-making test. No association was found between these two domains.
