1. Al-Farsi YM, Waly MI, Deth RC, Al-Sharbati MM, Al-Shafaee M, Al-Farsi O, Al-Khaduri MM, Gupta I, Ali A, Al-Khalili M, Al-Adawi S, Hodgson NW, Ouhtit A. {{Low folate and vitamin B12 nourishment is common in Omani children with newly diagnosed autism}}. {Nutrition (Burbank, Los Angeles County, Calif)}. 2012 Dec 31.
OBJECTIVE: Arab populations lack data related to nutritional assessment in children with autism spectrum disorders (ASDs), especially micronutrient deficiencies such as folate and vitamin B12. METHODS: To assess the dietary and serum folate and vitamin B12 statuses, a hospital-based case-control study was conducted in 80 Omani children (40 children with ASDs versus 40 controls). RESULTS: The ASD cases showed significantly lower levels of folate, vitamin B12, and related parameters in dietary intake and serum levels. CONCLUSION: These data showed that Omani children with ASDs exhibit significant deficiencies in folate and vitamin B12 and call for increasing efforts to ensure sufficient intakes of essential nutrients by children with ASDs to minimize or reverse any ongoing impact of nutrient deficiencies.
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2. Chen LS, Xu L, Huang TY, Dhar SU. {{Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2013 Jan 3.
Purpose:The goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing.Methods:We conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes.Results:Approximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing.Conclusion:As health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents’ awareness, attitudes, and experiences regarding autism genetic testing.Genet Med advance online publication 3 Janurary 2013Genetics in Medicine (2013); doi:10.1038/gim.2012.145.
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3. Muzzi F, Santini F, Romanini G, Bartuli FN, Arcuri C. {{Fragile-X syndrome: genetic aspects and stomatologic evaluations}}. {Oral & implantology}. 2010 Jul;3(3):38-44.
AIM OF THE WORK: The fragile-X syndrome is the most common cause of inherited mental retardation and it is associated with the FMR1 gene on X chromosome. The origin of anatomic anomalies of maxillo-facial complex is still discussed in literature. The authors describe the syndrome and report a clinical case. METHODS: Genetical and clinical aspects and the incidence of caries, periodontal disease and occlusal abrasion are reviewed. Occlusal conditions, particularly openbite and crossbite, are considered. RESULTS: The incidence of fragile-X syndrome is 1: 2000 in males and 1:4000 in females, despite this the syndrome is diagnosed with a lot of difficulties yet, because of extreme variability of the phenomenological aspects. Patients often show severe mental retardation, linked to a peculiar profile of cognitive, behavioural, and emotional dysfunction and to distinctive anatomic features, which become more evident after puberty. Concerning oral characteristics, it doesn’t seem to be a significant association between the syndrome and the incidence of caries or periodontal diseases, while an ogival shaped palate is peculiar. CONCLUSIONS: Literature review suggests that when male patients with severe mental retardation without well-known cause are visited, the ipothesis of X-fragile syndrome should be considered. Even though the diagnostic hypothesis may arise from the observation of typical somatic features, the diagnosis can be confirmed only by genetical tests.
4. Palumbo O, D’Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M. {{3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination}}. {Gene}. 2012 Dec 31.
Interstitial deletion of chromosome region 3p14.1, including FOXP1 gene, are relatively rare and, until recently, there were no strong evidences to support the hypothesis that this microdeletion could play a role in the etiology of genomic disorders. Here, we report on an adult patient with a recognizable phenotype of autism, severe speech delay, deficit of motor coordination and typical dysmorphic features. Analysis of a dense whole genome single-nucleotide polymorphism (SNP) array showed a 1 Mb interstitial deletion of chromosome region 3p14.1 including the entire coding region of FOXP1 (MIM 605515) gene. In order to study the parental origin of the deletion, we analyzed selected SNPs in the deleted area in the proband and his parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Despite the frequency of this genomic alteration has not been estimated, our patient confirm the hypothesis that microdeletion of 3p14.1 seems to be a rare cause of cognitive disorders and that haploinsufficiency of FOXP1 may play a role in neurological and language deficits in patients carrying a 3p14.1 deletion. Finally, our patient is also important because useful to further delineate the clinical spectrum secondary to the 3p14.1 microdeletions.
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5. Seery AM, Vogel-Farley V, Tager-Flusberg H, Nelson CA. {{Atypical lateralization of ERP response to native and non-native speech in infants at risk for autism spectrum disorder}}. {Developmental cognitive neuroscience}. 2012 Dec 6;5C:10-24.
Language impairment is common in autism spectrum disorders (ASD) and is often accompanied by atypical neural lateralization. However, it is unclear when in development language impairment or atypical lateralization first emerges. To address these questions, we recorded event-related-potentials (ERPs) to native and non-native speech contrasts longitudinally in infants at risk for ASD (HRA) over the first year of life to determine whether atypical lateralization is present as an endophenotype early in development and whether these infants show delay in a very basic precursor of language acquisition: phonemic perceptual narrowing. ERP response for the HRA group to a non-native speech contrast revealed a trajectory of perceptual narrowing similar to a group of low-risk controls (LRC), suggesting that phonemic perceptual narrowing does not appear to be delayed in these high-risk infants. In contrast there were significant group differences in the development of lateralized ERP response to speech: between 6 and 12 months the LRC group displayed a lateralized response to the speech sounds, while the HRA group failed to display this pattern. We suggest the possibility that atypical lateralization to speech may be an ASD endophenotype over the first year of life.
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6. Tian P. {{RELN gene polymorphisms and susceptibility to autism in Chinese Han population}}. {Neurology India}. 2012 Nov-Dec;60(6):581-4.
Background: Single nucleotide polymorphisms (SNPs) in the Reelin gene (RELN) are likely candidates to confer risk for autism. The objective of the present study is to investigate the association of RELN gene SNPs with autism. Materials and Methods: A total of 367 Chinese Han subjects were recruited, including 186 autism patients and 181 unrelated healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing methods were used to detect RELN gene polymorphisms. The association between SNPs and autism was analyzed in this study. Results: The g.333509A>C in intron12 and g.504742G>A in exon60 were detected in the RELN gene and a significant association was found between the g.504742G>A polymorphism and autism. Allele and genotype frequencies for the g.504742G>A polymorphism in autistic patients were significantly different for healthy subjects. There was no significantly difference in g.333509A>C polymorphism and autism in the studied populations. Conclusions: Our findings indicated that g.333509A>C was not significantly associated with autism. The g.504742G>A polymorphic variant in the RELN gene might affect subjects susceptibility toward autism in Chinese Han population.
