NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. In this context, heterozygous mutations in NOBOX, BMP15 and GDF9 have been reported. The objective of our study was to evaluate the prevalence of these genes mutations in 125 unrelated Tunisian patients diagnosed with POI. The screening of NOBOX gene revealed three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients. These mutations were not found in a 200 ethnically matched women without fertility problem. The sequencing of BMP15 and GDF9 gene revealed only previously reported variants. In contrast to previous studies, the prevalence of BMP15 variations is not higher than in the control population. Conversely, 6.4% of the cases present a NOBOX mutations; this high prevalence strengthens the consideration of NOBOX gene as strong autosomal candidate for POI.     

Who benefits from early intervention in autism spectrum disorders?

Research in autism spectrum disorders (ASD) described individual differences in response to intervention. This study explored child and parental characteristics at baseline that predict outcomes in adaptive skills and acquisition of cognitive gains. Seventy-eight children aged 15–35 months diagnosed with ASD by standardized diagnostic tools were included. Evaluations of verbal and non-verbal abilities, adaptive skills and autism severity were obtained at pre-intervention (T1) and after one year of intervention (T2). At T2, children improved significantly in their verbal ability and the severity of autism symptoms was reduced. Outcome in adaptive skills was best predicted by baseline verbal ability and maternal age. Better verbal ability especially in those with severe autism symptoms, and older maternal age predicted better adaptive skills outcome. T1 autism severity, child's age and maternal age and educational attainment best predicted cognitive gains. Less severe autism symptoms, younger child's age at start of intervention, older maternal age and higher maternal education predicted greater cognitive gains with intervention. The study suggests biological factors including age, language abilities and autism severity and environmental factors including maternal age and education, impact the ability to benefit from early intervention in ASD.     

Are special abilities in autism spectrum disorder associated with a distinct clinical presentation?

Special abilities may be common in autism spectrum disorders (ASD). The aim of this study was to investigate the clinical presentation of ASD with special abilities. Special abilities were defined based on the Autism Diagnostic Interview-Revised (ADI-R). Based on a sample of 398 children, ages 2–7 years old with ASD, 112 with special skills were compared to an age- and gender-matched group without special abilities (n = 79). The examined measures included autism symptoms severity, adaptive behaviors and head circumference percentile. Children with ASD and special abilities seemed to exhibit significantly less impaired ASD symptoms in the social, communication and stereotyped behaviors and significantly better adaptive skills than individuals with ASD without special skills. Children with ASD and special abilities had a larger head circumference percentile than children without special abilities. Special abilities occurred in 28% of the study participants. Memory skills were the most frequently reported special ability, followed by musical, visuospatial and reading skills. The authors conclude that individuals with ASD and special abilities might represent a distinct ASD subgroup with milder clinical ASD presentation. Larger head circumference in ASD was previously associated with enhanced “local” connectivity which provides detailed information processing and therefore might be related to the appearance of special abilities.     

Inhibitory effects of cocaine on NGF-induced neuronal differentiation: Incomplete reversibility after a critical time period

We extend our findings showing dose-dependent cocaine inhibition of differentiation in NGF-stimulated PC-12 cells without affecting cell viability by demonstrating that neurite extension is severely limited after 24 h, maximal effect is reached at 36 h and recovery is only partial. Cocaine metabolites lack these effects. A similar process may occur following human prenatal exposure, perhaps through cocaine-induced changes in gene expression or other intracellular signalling events.     

Caffeine pharmacokinetics in young and adult dogs

The pharmacokinetics of caffeine were studied in young (age: 1 day, 7 days, 14 days, 30-45 days) and adult dogs following a single intravenous dose of 50 mg/kg. Mean (+/-SE) plasma elimination half life (T1/2) was 47.5 (+/-5.35) h in 1-day-old puppies, as opposed to 6.66(+/-0.85) h in adult dogs. A rapid decrease in plasma T1/2 values occurred during the first 2 weeks of life. At about 14 days of age caffeine plasma T1/2 was similar to that of adults. The volume of distribution was greatest (0.94+/- 0.03 liters/kg) and the total body clearance was smaller (2.81 +/- 0.73 liters/kg/min X 10(-4)) in the 1-day-old animals. The much smaller body clearance of caffeine in the newborn as compared to the adult dog could be due to a lower rate of metabolism and/or renal excretion of this drug in the young.     

Study of causal factors of reading impairment in a sample of 1062 7 to 8-years-old children]

OBJECTIVE: From an original large sample of 1062 7 to 8-year-old children, reading skills were assessed and found to be highly linked with socioeconomic status (SES). The purpose of the present study was to further determine underlying medical, sociocultural, cognitive and behavioural factors explaining the diversity of reading skills and the influence of SES. METHOD: Individual testing among low-SES children identified 100 poor readers, 50 typical readers and 31 children with intermediate reading scores. All 3 groups underwent a thorough assessment, including a medical evaluation, a full cognitive battery, a structured parental interview and behavioural questionnaire. Logistic regression was used to demonstrate the variables predicting reading score outcome. RESULTS: None of the medical factors studied was statistically related to reading scores. Due to the methodology buffering the impact of SES sociocultural variables, such as parental levels of education, parental occupation, as well as familial income were weak, but statistically significant predictors. The strongest variables were phonological abilities and symptoms of attention disorders. In a final regression model, phonological awareness, level of mother's education and attention explained the differences in reading skills. CONCLUSIONS: These results, which are unique in France, are similar to existing data in the literature. They support the need to conceptualize an early screening programme to detect reading difficulties and to promote an intervention based on phonological processing and decoding in low-SES environments.