1. Daniels AM, Como A, Herguner S, Kostadinova K, Stosic J, Shih A. {{Autism in Southeast Europe: A Survey of Caregivers of Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2017 (May 08)
The aim of this study was to understand the diagnostic, service and lived experiences of families affected by ASD in Southeast Europe. A total of 758 caregivers from Albania, Bulgaria, Croatia and Turkey were surveyed from 2013 to 2015 about characteristics of the child with ASD; service encounters; and caregiver perceptions. The average age at first concern was 24.4 months (SD 11.8) and at diagnosis, 40.0 months (SD 19.0). Psychiatrists were the most common diagnostician; most children received some ASD-related service, most frequently speech and language therapy. Caregivers endorsed challenges in access to care and perceived stigma. Despite country differences, findings relative to age at first concern, disparities in access and service utilization, and stigma speak to common regional needs.
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2. Hosseinpour M, Mashayekhi F, Bidabadi E, Salehi Z. {{Neuropilin-2 rs849563 gene variations and susceptibility to autism in Iranian population: A case-control study}}. {Metab Brain Dis};2017 (May 08)
Autism spectrum disorders (ASD) are neurodevelopmental disruptions usually diagnosed in the first three years of child’s life that characterized by some impairments in verbal and nonverbal communication, problems in social interactions and repetitive behaviors. The neuropilin-2 (NRP2) gene has been shown to both guide axons and control neuronal migration in the central nervous system (CNS). In this study the association between the NRP2 gene and autism using a cohort of 120 Iranian children (50 cases with autism and 70 control cases) was analyzed. Single nucleotide polymorphism (SNP) was genotyped by the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) analyses. There was significant difference between the genotype and allele frequency between control and patient groups (P = 0.003 and P = 0.01, respectively). The prevalence of genotype frequencies of TT and TG in autistic children were 40% and 60%, respectively, while in controls were 68.5% and 31.5%, respectively. The heterozyote TG was associated with an increased risk of autism compared with TT genotype (OR = 3.72, 95%CI = 1.53-6.95, P = 0.02). The allele frequencies of T and G in autistic children were 78.5% and 21.4%, respectively and in controls were 84.2% and 15.7%, respectively. The NRP2 G allele conferred a 2.29-fold increased risk to autism relative to the T allele (OR = 2.29, 95%CI = 1.23-4.29, P = 0.009). The results of this study showed that there is a significant association between rs849563 polymorphism and autism in the studied population. However in order to obtain a definitive conclusion larger studies with more samples are required to confirm the results of this study.
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3. Li H, Li Y, Liu Y, Zhao Z. {{Blood Mercury, Arsenic, Cadmium, and Lead in Children with Autism Spectrum Disorder}}. {Biol Trace Elem Res};2017 (May 08)
Environmental factors have been implicated in the etiology of autism spectrum disorder (ASD); however, the role of heavy metals has not been fully defined. This study investigated whether blood levels of mercury, arsenic, cadmium, and lead of children with ASD significantly differ from those of age- and sex-matched controls. One hundred eighty unrelated children with ASD and 184 healthy controls were recruited. Data showed that the children with ASD had significantly (p < 0.001) higher levels of mercury and arsenic and a lower level of cadmium. The levels of lead did not differ significantly between the groups. The results of this study are consistent with numerous previous studies, supporting an important role for heavy metal exposure, particularly mercury, in the etiology of ASD. It is desirable to continue future research into the relationship between ASD and heavy metal exposure. Lien vers le texte intégral (Open Access ou abonnement)
4. Unigwe S, Buckley C, Crane L, Kenny L, Remington A, Pellicano E. {{GPs’ confidence in caring for their patients on the autism spectrum: an online self-report study}}. {Br J Gen Pract};2017 (May 08)
BACKGROUND: In the UK, GPs play a key role in the identification and management of children, young people, and adults on the autism spectrum, but there is a paucity of research on GPs’ perceptions of working with these patients. AIM: To understand GPs’ perceived self-efficacy in identifying and managing their patients on the autism spectrum, and the factors affecting this. DESIGN AND SETTING: An online self-report survey was developed for completion by GPs across the UK. METHOD: A total of 304 GPs in the UK took part. The survey collected responses on participants’ background, training, and experience, both as a GP and with regard to autism, and included a 22-item knowledge of autism questionnaire, a 14-item self-efficacy scale targeting GPs’ perceived confidence in identifying and managing their autistic patients, and an open question eliciting participants’ experiences of working with autistic people. RESULTS: In total, 39.5% (n = 120) of GP participants reported never having received formal training in autism. Despite demonstrating good knowledge of its key features, participants reported limited confidence in their abilities to identify and manage autistic patients, with many citing a number of barriers that overwhelmingly focused on perceived failings of the current healthcare system (such as a lack of clarity around referral pathways). CONCLUSION: There is an urgent need for improved local specialist service provision alongside clearer referral pathways for diagnosis to improve both GPs’ confidence in caring for their autistic patients and the healthcare experiences of autistic patients and their families. Local clinical commissioning groups are best served to assist GPs in ensuring that they can reliably detect the condition and make appropriate provisions for support.
