1. {{Increased dopamine DRD4 receptor mRNA expression in lymphocytes of musicians and autistic individuals: bridging the music-autism connection}}. {Neuro Endocrinol Lett} (Feb 11);31(1):22.
2. Brang D, Ramachandran VS. {{Olfactory bulb dysgenesis, mirror neuron system dysfunction, and autonomic dysregulation as the neural basis for autism}}. {Med Hypotheses} (Feb 8)
Autism is a disorder characterized by social withdrawal, impoverished language and empathy, and a profound inability to adopt another’s viewpoint – a failure to construct a « theory of mind » for interpreting another person’s thoughts and intentions. We previously showed that these symptoms might be explained, in part, by a paucity of mirror neurons. Prompted by an MRI report of an individual with autism, we now suggest that there may be, in addition, a congenital aplasia/dysplasia of the olfactory bulbs with consequent reduction of vasopressin and oxytocin receptor binding. There may also be sub-clinical temporal lobe epilepsy affecting the recently discovered third visual system that is rich in « empathy » related mirror neurons (MNS) and projects (via the TOP junction – just below the inferior parietal lobule) to limbic structures that regulate autonomic outflow. This causes deranged autonomic feedback, resulting in additional deficiencies in MNS with loss of emotional empathy and introspection.
3. Carbone PS, Farley M, Davis T. {{Primary care for children with autism}}. {Am Fam Physician} (Feb 15);81(4):453-460.
4. Emanuele E, Colombo R, Martinelli V, Brondino N, Marini M, Boso M, Barale F, Politi P. {{Elevated urine levels of bufotenine in patients with autistic spectrum disorders and schizophrenia}}. {Neuro Endocrinol Lett} (Feb 11);31(1):11.
OBJECTIVES: Previous studies have suggested that the endogeneous psychotomimetic molecule bufotenine (N-N notdimethyl-5-idroxytryptamine) may play a role in the pathogenesis of severe mental disorders. The potential association of bufotenine with the clinical features of autism and schizophrenia is not entirely understood. In this study, we measured urinary levels of bufotenine in subjects with autistic spectrum disorder (ASD), schizophrenia and healthy comparison subjects free of psychiatric symptoms. We also sought to assess whether urine concentrations of this molecule may be associated with the clinical characteristics of psychiatric patients. DESIGN: Urine bufotenine levels were measured using a high-performance liquid chromatography-mass spectrometry (HPLC-MS) assay in young adults with severe ASD (n = 15), patients with schizophrenia (n = 15), and healthy control subjects (n = 18). The Vineland Adaptive Behavior Scale was used to measure adaptive behaviors in ASD individuals. The Brief Psychiatric Rating Scale (BPRS) was used for patients with schizophrenia. RESULTS: Urine bufotenine levels were significantly higher in ASD subjects (3.30 +/- 0.49 mug/L, P < 0.05) and patients with schizophrenia (4.39 +/- 0.43 mug/L, P < 0.001) compared with controls (1.53 +/- 0.30 mug/L). Among patients with ASD, there was a significant positive correlation between urine bufotenine and hyperactivity scores on the Vineland Adaptive Behavior Scale (r = 0.479, P < 0.05). No other associations were detected. CONCLUSIONS: our results indicate that elevated urine levels of the endogeneous psychotomimetic molecule bufotenine may play a role in ASD and schizophrenia, and can be correlated with hyperactivity scores in autism.
5. Fernell E, Gillberg C. {{Autism spectrum disorder diagnoses in Stockholm preschoolers}}. {Res Dev Disabil} (Feb 9)
The aims of this study were to estimate prevalence rates of children with autism spectrum disorder (ASD) diagnoses in a cohort of 6-year-old children with birth year 2002, referred to the Autism Centre for Young Children, serving the whole of Stockholm county and on the basis of the available data discuss clinical aspects of assessment, habilitation and follow-up. Records of 142 of a total of 147 (123 boys and 24 girls) identified children with ASD diagnoses were scrutinised with respect to type of diagnosis, cognitive level, other developmental disorders and medical/neurological disorders. The overall prevalence of such disorders was 6.2/1000 (95% confidence interval 5.2-7.2/1000). The rates of learning disability/mental retardation, developmental delay without a specified cognitive level and normal intelligence constituted about one third, respectively. AS and atypical autism tended to be diagnosed more often at age 5-6 years while AD with learning disability/mental retardation was more often diagnosed at age 3-4 years. The awareness of ASDs has resulted in increasing numbers of children being diagnosed at young ages. We conclude that it is important to take into account these children’s broader developmental profiles, need for repeated assessment of cognitive functions and follow-up over time and also the requirement for medical/neurological consideration and work-up.
6. Ghaziuddin M. {{Brief Report: Should the DSM V Drop Asperger Syndrome?}}. {J Autism Dev Disord} (Feb 12)
7. Sezer A, Yagci MA, Hatipoglu AR. {{The management of gastric perforation in a girl with Rett syndrome: Report of a case}}. {Brain Dev} (Feb 8)
Introduction: Rett syndrome is a neurologically disorder that affects approximately one in 10,000 females. Case report: A 21-year-old girl with Rett syndrome was hospitalized for abdominal distention and pain. Physical examination revealed abdominal tenderness. Radiology investigation revealed bilateral free air in subdiaphragmatic area. Gastric perforation observed at laparotomy. Primary suturing and omentoplasty were performed. In the follow-up, the symptoms of intestinal obstruction occurred. Conservative treatment failed and second intervention was performed. At laparotomy severe gastric and intestinal dilatation and bowel adhesions were detected. Adhesiolysis, tube gastrostomy, and feeding jejunostomy performed. Discussion: Rett syndrome and associated gastric complications are uncommon. These pathologic disorders may cause gastric, intestinal necrosis, intestinal obstructions. Because of the late occurring of physical findings and insidious presentation of the gastrointestinal perforations in Rett syndrome, physicians should keep in mind this rare entity to reduce morbidity and mortality.
8. Williams EL, Casanova MF. {{Potential teratogenic effects of ultrasound on corticogenesis: Implications for autism}}. {Med Hypotheses} (Feb 8)
The phenotypic expression of autism, according to the Triple Hit Hypothesis, is determined by three factors: a developmental time window of vulnerability, genetic susceptibility, and environmental stressors. In utero exposure to thalidomide, valproic acid, and maternal infections are examples of some of the teratogenic agents which increase the risk of developing autism and define a time window of vulnerability. An additional stressor to genetically susceptible individuals during this time window of vulnerability may be prenatal ultrasound. Ultrasound enhances the genesis and differentiation of progenitor cells by activating the nitric oxide (NO) pathway and related neurotrophins. The effects of this pathway activation, however, are determined by the stage of development of the target cells, local concentrations of NO, and the position of nuclei (basal versus apical), causing consequent proliferation at some stages while driving differentiation and migration at others. Ill-timed activation or overactivation of this pathway by ultrasound may extend proliferation, increasing total cell number, and/or may trigger precipitous migration, causing maldistribution of neurons amongst cortical lamina, ganglia, white matter, and germinal zones. The rising rates of autism coincident with the increased use of ultrasound in obstetrics and its teratogenic/toxic effects on the CNS demand further research regarding a putative correlation.
