1. Arieff Z, Kaur M, Gameeldien H, Merwe LV, Bajic VB. {{5-HTTLPR polymorphism: analysis in South African autistic individuals}}. {Hum Biol} (Jun);82(3):291-300.
The serotonin transporter promoter length polymorphism (5-hydroxytryptamine transporter length polymorphism; 5-HTTLPR) has long been implicated in autism and other psychiatric disorders. The use of selective serotonin reuptake inhibitors (SSRIs) has a positive effect on treating some symptoms of autism. The effects of these drugs vary in individuals because of the presence of the S or L allele of 5-HTTLPR. Studies performed on various autistic populations have found different allele frequencies for the L and S alleles. Allele frequencies and genotypes of the South African autistic populations (African, mixed, and Caucasian) were compared with matching South African ethnic control populations. The *S/*S genotype was found to be highly significantly associated with all the South African autistic ethnic populations. In the South African African population the *S/*S genotype was present in 7 (33%) of the autistic individuals but in none of the control subjects, yielding infinitely large odds of developing autism. The odds of developing autism with the *S/*S genotype compared to the *L/*L genotype increased 10.15-fold in the South African mixed group and 2.74-fold in the South African Caucasian population. The allele frequency of the South African autistic population was also compared with studies of other autistic populations around the world, and highly significant differences were found with the Japanese, Korean, and Indian population groups. The difference was not significant for the French, German, Israeli, Portuguese, and American groups. This is the first South African study of autistic individuals of different ethnic backgrounds that shows significant differences in allele and genotype frequencies of 5-HTTLPR. The results of this study open new avenues for investigating the role of transmission of the L and S alleles in families with autism in South Africa.
2. Constantino JN, Majmudar P, Bottini A, Arvin M, Virkud Y, Simons P, Spitznagel E. {{Infant head growth in male siblings of children with and without autism spectrum disorders}}. {J Neurodev Disord} (Mar);2(1):39-46.
PURPOSE: Previous research has indicated that children with autism exhibit accelerated head growth (HG) in infancy, although the timing of acceleration varies between studies. We examined infant HG trajectory as a candidate autism endophenotype by studying sibling pairs. METHODS: We retrospectively obtained serial head orbitofrontal circumference measurements of: a) 48 sibling pairs in which one (n=28) or both (n=20) sibs were affected by an autism spectrum disorder (ASD); and b) 85 control male sibling pairs. RESULTS: Rate of HG of ASD subjects was slightly accelerated compared to controls, but the magnitude of difference was below the limit of reliability of standard measurement methods. Sibling intra class correlation for rate of HG was highly statistically significant; the magnitude was significantly stronger among autism-affected families (ICC=.63) than among controls (ICC=.26), p<.01. CONCLUSION: Infant HG trajectory appears familial-possibly endophenotypic-but was not a reliable marker of autism risk among siblings of ASD probands in this sample.
3. Ghanizadeh A. {{Factor analysis on ADHD and autism spectrum disorder DSM-IV-derived items shows lack of overlap}}. {Eur Child Adolesc Psychiatry} (Jul 24)
4. Harada M, Taki MM, Nose A, Kubo H, Mori K, Nishitani H, Matsuda T. {{Non-Invasive Evaluation of the GABAergic/Glutamatergic System in Autistic Patients Observed by MEGA-Editing Proton MR Spectroscopy Using a Clinical 3 Tesla Instrument}}. {J Autism Dev Disord} (Jul 21)
Amino acids related to neurotransmitters and the GABAergic/glutamatergic system were measured using a 3 T-MRI instrument in 12 patients with autism and 10 normal controls. All measurements were performed in the frontal lobe (FL) and lenticular nuclei (LN) using a conventional sequence for n-acetyl aspartate (NAA) and glutamate (Glu), and the MEGA-editing method for GABA. The GABA level and [GABA]/[NAA] ratio were significantly lower (p < 0.01) in the FL, but not the LN, in patients with autism compared to normal controls. The [GABA]/[Glu] ratio in the FL was also significantly lower (p < 0.05) in the patients than in the normal controls, thus suggesting a possible abnormality in the regulation between GABA and Glu.
5. Hebert EB, Koulouglioti C. {{Parental beliefs about cause and course of their child’s autism and outcomes of their beliefs: a review of the literature}}. {Issues Compr Pediatr Nurs};33(3):149-163.
BACKGROUND: This article provides a review of the literature on beliefs that parents of children with autism hold, with a focus on their beliefs on the cause and course of the disorder. Research on the outcomes of their beliefs also was reviewed. METHODS: Medline, PsychInfo, Nursing@Ovid and PubMed were searched from 1995 through 2009 using the keywords autism, autistic disorder, beliefs, culture, parents, attitudes, and perceptions. Additional articles were identified through Google Scholar and from references in related articles. Thirteen articles were retrieved and reviewed. RESULTS: It was found in the review that parents hold a wide variety of beliefs about the cause of their child’s autism, including genetic factors, events surrounding the child’s birth, and environmental influences in the early childhood period. Some parents continue to attribute their child’s autism to immunizations, although more recent studies suggest the frequency may be decreasing. Some parents are pessimistic about their child’s future while others are hopeful that new strategies will be developed. Some trust that society will become more accepting of their child’s idiosyncrasies. Parents’ beliefs about the cause of their child’s autism have been found to have an impact on decisions regarding future health care, family planning, and maternal mental health. The link between parental beliefs and their choices for interventions has not yet been empirically explored. CONCLUSIONS: Research on the impact of cultural beliefs specific to autism is very limited, although studies focusing on other developmental disorders suggest that it is influential. The importance of exploring parental beliefs during the process of treatment planning is discussed.
6. Phelan HL, Filliter JH, Johnson SA. {{Brief Report: Memory Performance on the California Verbal Learning Test – Children’s Version in Autism Spectrum Disorder}}. {J Autism Dev Disord} (Jul 22)
According to the Task Support Hypothesis (TSH; Bowler et al. in Neuropsychologia 35:65-70, 1997) individuals with autism spectrum disorder (ASD) perform more similarly to their typically developing peers on learning and memory tasks when provided with external support at retrieval. We administered the California Verbal Learning Test-Children’s Version to 15 high-functioning youths with ASD and 15 matched comparison participants. Although ASD and comparison participants had comparable levels of overall performance, the ASD group, but not the comparison group, improved significantly from free to cued recall, providing support for the TSH. These results indicate that verbal memory performance in youths with ASD is relatively intact, but may be facilitated by external supports.
7. Totsika V, Hastings RP, Emerson E, Lancaster GA, Berridge DM. {{A population-based investigation of behavioural and emotional problems and maternal mental health: associations with autism spectrum disorder and intellectual disability}}. {J Child Psychol Psychiatry} (Jul 22)
Background: While research indicates elevated behavioural and emotional problems in children with autism spectrum disorders (ASD) and decreased well-being in their parents, studies do not typically separate out the contribution of ASD from that of associated intellectual disabilities (ID). We investigated child behavioural and emotional problems, and maternal mental health, among cases with and without ASD and ID in a large population-representative sample. Methods: Cross-sectional comparison of child behavioural and emotional problems and maternal mental health measures among 18,415 children (5 to 16 years old), of whom 47 had an ASD, 51 combined ASD with ID, 590 had only ID, and the remainder were the comparison group with no ASD or ID. Results: The prevalence of likely clinical levels of behavioural and emotional problems was highest among children with ASD (with and without ID). After controlling for age, gender, adversity, and maternal mental health, the presence of ASD and ID significantly and independently increased the odds for hyperactivity symptoms, conduct, and emotional problems. Emotional disorder was more prevalent in mothers of children with ASD (with or without ID). The presence of ASD, but not ID, significantly increased the odds for maternal emotional disorder. As has been found in previous research, positive maternal mental health was not affected by the presence of ASD or ID. Conclusions: ASD and ID are independent risk factors for behavioural and emotional problems. ASD (but not ID) is positively associated with maternal emotional disorder. Approaches to diagnosing hyperactivity and conduct problems in children with ASD may need to be reconsidered.
8. Voituron N, Menuet C, Dutschmann M, Hilaire G. {{Physiological definition of upper airway obstructions in mouse model for Rett syndrome}}. {Respir Physiol Neurobiol} (Jul 24)
Rett syndrome is a neuro-developmental disease accompanied by breathing symptoms including breath-hold events, and is caused by mutation of the transcriptional repressor methyl-CpG-binding protein 2 (MeCP2). Males of Mecp2-deficient mice (Mecp2(-/y)) also develop breathing symptoms, with erratic rhythm and life-threatening apnoeas from postnatal day 30 (P30), leading to respiratory distress and premature death at around P60. We investigated the respiratory function of conscious Mecp2(-/y) mice at P40-P60 using conventional whole-body plethysmography, double-chamber plethysmography and chest EMG recordings. Double-chamber plethysmography revealed a persistent increase in respiratory work-load with enlarged chest movements, but no subsequent increase of tidal volume thus revealing a mismatch between airflow and muscle work-load. Apnoeas occurred with cessation of both chest movements and ventilation, but some (40%) developed with persisting rhythmic chest EMG discharges or chest movements without respiratory airflow, suggesting respiratory efforts against obstructed airways. Airway obstruction was maintained even when the respiratory drive increased significantly, triggering large chest EMG discharges and movements. Whole-body plethysmography of Mecp2(-/y) mice revealed significant increases of spirograms, reflecting forced chest movements against partially obstructed airways. The persisting chest EMG discharges and rhythmic chest movements without respiratory airflow suggest that Mecp2 inactivation alters neural circuits controlling the upper airway dilator muscles. The observed breath-hold events in Mecp2(-/y) mice might imply disturbance of neural circuits attached to voluntary control of breathing.
