1. Mostafa GA, Shehab AA. {{The link of C4B null allele to autism and to a family history of autoimmunity in Egyptian autistic children}}. {J Neuroimmunol} (May 8)
The reason behind the initiation of autoimmunity, which may have a role in autism, is not well understood. There is an association between some autoimmune disorders and complement (C) 4B null allele. We aimed to study the association between C4B null allele and autism. In addition, we are the first to investigate the association between this allele and a family history of autoimmune diseases in autistic children. Therefore, we examined the frequency of C4B null allele, by quantitative real-time PCR, in 80 autistic patients and 80 healthy matched-children. The frequency of C4B null allele was significantly higher in autistic patients (37.5%) than healthy controls (8.75%), P<0.001. The frequency of autoimmune diseases in families of autistic children (40%) was significantly higher than healthy children (10%), P<0.001. In addition, a family history of autoimmunity had a significant risk for association with autism (odds ratio=6, 95%, CI=2.5-14.1). C4B null allele had a significant risk for association with autism (odds ratio=6.26, 95% CI=2.55-15.36) and with a family history of autoimmunity (odds ratio=21, 95% CI=6.5-67.8). Conclusions: the link of C4B null allele to autism and to a family history of autoimmunity may indicate its possible contributing role to autoimmunity in autism.
2. Palmieri L, Persico AM. {{Mitochondrial dysfunction in autism spectrum disorders: Cause or effect?}}. {Biochim Biophys Acta} (May 8)
Autism Spectrum Disorders encompass severe developmental disorders characterized by variable degrees of impairment in language, communication and social skills, as well as by repetitive and stereotypic patterns of behaviour. Substantial percentages of autistic patients display peripheral markers of mitochondrial energy metabolism dysfunction, such as (a) elevated lactate, pyruvate, and alanine levels in blood, urine and/or cerebrospinal fluid, (b) serum carnitine deficiency, and/or (c) enhanced oxidative stress. These biochemical abnormalities are accompanied by highly heterogeneous clinical presentations, which generally (but by no means always) encompass neurological and systemic symptoms relatively unusual in idiopathic autistic disorder. In some patients, these abnormalities have been successfully explained by the presence of specific mutations or rearrangements in their mitochondrial or nuclear DNA. However, in the majority of cases, abnormal energy metabolism cannot be immediately linked to specific genetic or genomic defects. Recent evidence from post-mortem studies of autistic brains points toward abnormalities in mitochondrial function as possible downstream consequences of dysreactive immunity and altered calcium (Ca(2+)) signalling.
3. Sharda M, Subhadra TP, Sahay S, Nagaraja C, Singh L, Mishra R, Sen A, Singhal N, Erickson D, Singh NC. {{Sounds of melody-Pitch patterns of speech in autism}}. {Neurosci Lett} (May 4)
The objective of this study was to find a pattern in vocalizations of children with Autism Spectrum Disorder (ASD). We compared the intonational features of 15 children with ASD who showed speech, aged 4-10 years, with 10 age-matched typically developing controls. Exaggerated pitch, pitch range, pitch excursion and pitch contours were observed in speech of children with autism, but absent in age-matched controls. These exaggerated features, which are distinctive characteristics of motherese, were also seen in interactions of an independent group of 8 mothers of typical infants using child-directed speech. Our findings provide the first evidence of a distinct pattern in vocal output from children with autism. They also demonstrate that speech patterns might follow a delayed developmental trajectory in these children.
4. Sizoo B, van den Brink W, Franke B, Vasquez AA, van Wijngaarden-Cremers P, van der Gaag RJ. {{Do candidate genes discriminate patients with an autism spectrum disorder from those with attention deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders?}}. {World J Biol Psychiatry} (May 7)
Abstract Objective. Autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) are developmental disorders that overlap in a number of domains, sometimes complicating clinical distinction between both disorders. Although there is some evidence for a genetic overlap, there are no reports on genes that could differentiate between ASD and ADHD. Furthermore, it is not known whether this genetic overlap is influenced by co-morbid substance use disorders (SUD). Methods. A total of 110 adult patients with ASD (n=61) or ADHD (n=49) with or without a lifetime history of SUD participated in a study in which we genotyped polymorphisms in five known candidate genes for (one of) the disorders, i.e. the 5HTTLPR in SLC6A4/5-HTT, rs1800497 (TaqIA C>T) in DRD2, rs7794745 in CNTNAP2, rs1843809 in TPH2, and rs6565113 in CDH13. Genotyping was by Taqman-based analysis or by simple sequence length analysis, where appropriate. Results. ASD could be differentiated from ADHD with nominal statistical significance by the 5HTTLPR, and the polymorphisms in TPH2 and CNTNAP2. The results were independent of lifetime SUD status. Conclusions. Serotonergic genes could prove to play an important role in differentiating between ASD and ADHD, but the results of this exploratory study need replication.
