1. Guerini FR, Bolognesi E, Chiappedi M, De Silvestri A, Ghezzo A, Zanette M, Rusconi B, Manca S, Sotgiu S, Agliardi C, Clerici M. {{HLA polymorphisms in Italian children with autism spectrum disorders: Results of a family based linkage study}}. {J Neuroimmunol};2010 (Nov 15)
To verify correlations between HLA and autism spectrum disorders (ASD) we studied 61 Italian families with an ASD child; results showed such correlation in 65% of cases. Case-control and TDT analysis of intrafamilial transmission of SNPs, Msats, and HLA markers surrounding the alpha and beta blocks, indicated significant positive associations for MOGc*131 and D6S2239*105 alleles in ASD, and a negative association of MIB *332 allele in healthy siblings. Polymorphism haplotype analysis demonstrated that two haplotypes comprising the TNF-238(G)-TNF-308(G)-MIB*332-HLA-B*38-HLA-Cw*12 and the D6S265*218-HLA-A*23-MOGc*131-rs2857766(G) alleles are more frequently transmitted to ASD. MOGc and MIB loci are linked with ASD in Italian patients.
2. Ingersoll B, Meyer K, Becker MW. {{Increased rates of depressed mood in mothers of children with ASD associated with the presence of the broader autism phenotype}}. {Autism Res};2010 (Nov 17)
This study examined the relationship between the broader autism phenotype (BAP) and depressed mood in mothers of children with and without autism spectrum disorders (ASD). One hundred and sixty-five mothers (71 with an ASD child and 94 with a non-ASD child) completed a survey of child autism severity (ASD mothers only), parenting stress, BAP, and depression. Mothers of children with ASD reported greater depressed mood, higher parenting stress, and more characteristics associated with the BAP than mothers of children without ASD. For mothers of children with ASD, the BAP uniquely predicted number of depressive symptoms after controlling for child autism severity and parenting stress. In the full sample, the relationship between group status and depressed mood was no longer significant after controlling for parenting stress and maternal BAP. These findings suggest that the higher rate of depression found in mothers of children with ASD may be attributed both to the increased stress of raising a child with ASD, as well as a greater number of autistic features in the mothers that may place them at higher risk for developing depression.
3. Jacob S, Brune CW, Badner JA, Ernstrom K, Courchesne E, Lord C, Leventhal BL, Cook EH, Kim SJ. {{Family-based association testing of glutamate transporter genes in autism}}. {Psychiatr Genet};2010 (Nov 16)
4. Ritvo RA, Ritvo ER, Guthrie D, Ritvo MJ, Hufnagel DH, McMahon W, Tonge B, Mataix-Cols D, Jassi A, Attwood T, Eloff J. {{The Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R): A Scale to Assist the Diagnosis of Autism Spectrum Disorder in Adults: An International Validation Study}}. {J Autism Dev Disord};2010 (Nov 18)
The Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R) is a valid and reliable instrument to assist the diagnosis of adults with Autism Spectrum Disorders (ASD). The 80-question scale was administered to 779 subjects (201 ASD and 578 comparisons). All ASD subjects met inclusion criteria: DSM-IV-TR, ADI/ADOS diagnoses and standardized IQ testing. Mean scores for each of the questions and total mean ASD vs. the comparison groups’ scores were significantly different (p < .0001). Concurrent validity with Constantino Social Responsiveness Scale-Adult = 95.59%. Sensitivity = 97%, specificity = 100%, test-retest reliability r = .987. Cronbach alpha coefficients for the subscales and 4 derived factors were good. We conclude that the RAADS-R is a useful adjunct diagnostic tool for adults with ASD.
5. Zhang B, Angelidou A, Alysandratos KD, Vasiadi M, Francis K, Asadi S, Theoharides A, Sideri K, Lykouras L, Kalogeromitros D, Theoharides TC. {{Mitochondrial DNA and anti-mitochondrial antibodies in serum of autistic children}}. {J Neuroinflammation};2010 (Nov 17);7(1):80.
ABSTRACT: Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by difficulties in communication, cognitive and learning defects, as well as stereotypic behaviors. For the majority of cases there are no reliable biomarkers or distinct pathogenesis. However, increasing evidence indicates ASD may be associated with some immune dysregulation, and may have a neuroimmune component. We recently showed that the peptide neurotensin (NT) is increased in autistic children. We now show that NT induces human mast cell release of extracellular mitochondrial DNA (mtDNA) that could act as « autoimmune » trigger. We further show that serum from young autistic patients contains mtDNA (n=20; cytochrome B, p=0.0002 and 7S, p=0.006), and anti-mitochondrial antibody Type 2 (n=14; p=0.001) as compared to normally developing, unrelated controls (n=12). Extracellular serum mtDNA and other molecules may characterize an autistic endophenotype and may contribute to its pathogenesis by activating auto-immune responses.
