1. Bevan Jones R, Thapar A, Lewis G, Zammit S. {{The association between early autistic traits and psychotic experiences in adolescence}}. {Schizophrenia research}. 2012 Jan 12.
BACKGROUND: There has been growing interest in the clinical and biological links between autistic spectrum disorder and psychotic disorders, and between symptoms of these disorders that exist below diagnostic thresholds. Whilst autism and schizophrenia are regarded as distinct disorders, recent studies support an overlap in the genetic architecture across these conditions. Although early neurodevelopmental impairment is associated with psychotic disorders in later life, evidence from longitudinal studies of the relationship between autistic traits and psychotic experiences is limited. Aims The aim of the study is to explore whether children with early autistic traits (social interaction and communication problems, and restricted, repetitive interests and behaviours) are more likely to present with psychotic experiences in early adolescence. METHOD: Longitudinal study using the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort. The mothers of 8232 children were asked about autistic traits in their children as part of the Development and Well-Being Assessment (DAWBA) at the age of 7. Of those, 6439 children completed a semi-structured clinical assessment for psychotic experiences at the age of 12. RESULTS: Children whose mothers had concerns about autistic traits in early life, in particular with regard to speech development or ‘rituals’/’habits’, were more likely to develop psychotic experiences in early adolescence. The greater the number of early autistic traits a child had, the greater their risk of developing psychotic experiences. These associations were not confounded by IQ, family history of depression or schizophrenia, gender or socio-demographic characteristics. CONCLUSIONS: Childhood autistic traits, and particularly speech problems and odd rituals or unusual habits, are associated with psychotic experiences in adolescence. This may be a result of a shared aetiology or because autistic traits may also be an early precursor of psychotic experiences.
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2. Carey MJ. {{Comment on « Timing of Increased Autistic Disorder Cumulative Incidence »}}. {Environ Sci Technol}. 2012 Jan 12.
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3. Godler DE, Slater HR, Bui QM, Storey E, Ono MY, Gehling F, Inaba Y, Francis D, Hopper JL, Kinsella G, Amor DJ, Hagerman RJ, Loesch DZ. {{Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study}}. {Clinical chemistry}. 2012 Jan 10.
BACKGROUND:Cognitive status in females with mutations in the FMR1 (fragile X mental retardation 1) gene is highly variable. A biomarker would be of value for predicting which individuals were liable to develop cognitive impairment and could benefit from early intervention. A detailed analysis of CpG sites bridging exon 1 and intron 1 of FMR1, known as fragile X- related epigenetic element 2 (FREE2), suggests that a simple blood test could identify these individuals.METHODS:Study participants included 74 control females (<40 CGG repeats), 62 premutation (PM) females (55-200 CGG repeats), and 18 full-mutation (FM) females assessed with Wechsler intelligence quotient (IQ) tests. We used MALDI-TOF mass spectrometry to determine the methylation status of FREE2 CpG sites that best identified low-functioning (IQ <70) FM females (>200 CGG repeats), compared the results with those for Southern blot FMR1 activation ratios, and related these assessments to the level of production of the FMR1 protein product in blood.RESULTS:A methylation analysis of intron 1 CpG sites 10-12 showed the highest diagnostic sensitivity (100%) and specificity (98%) of all the molecular measures tested for detecting females with a standardized verbal IQ of <70 among the study participants. In the group consisting of only FM females, methylation of these sites was significantly correlated with full-scale IQ, verbal IQ, and performance IQ. Several verbal subtest scores showed strong correlation with the methylation of these sites (P = 1.2 x 10(-5)) after adjustment for multiple measures.CONCLUSIONS:The data suggest that hypermethylation of the FMR1 intron 1 sites in blood is predictive of cognitive impairment in FM females, with implications for improved fragile X syndrome diagnostics in young children and screening of the newborn population.
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4. Howell DM, Wittman P, Bundy MB. {{Interprofessional clinical education for occupational therapy and psychology students: A social skills training program for children with autism spectrum disorders}}. {Journal of interprofessional care}. 2012 Jan;26(1):49-55.
An interprofessional clinical learning experience was developed for pre-licensure occupational therapy (OT) and psychology graduate students. Students worked in interprofessional teams to plan and implement a social skills training program for children with autism spectrum disorders (ASD). The objectives were to provide a hands-on, student-led clinical experience; facilitate interprofessional collaborative learning through leadership partnerships and teach children with ASD to engage in appropriate social skill behaviors. Concurrently, faculty performed qualitative research to explore how the students worked together to provide intervention to the children. Data were collected via interview, direct observation of student planning sessions and student interprofessional interactions, and collection of posts from an online social network site used for session planning. There were six student participants and two faculty participants. Four themes emerged: learning who I am as a professional, learning to appreciate our professional differences, learning to communicate with each other and figuring it out, for the benefit of the kids. This interprofessional clinical learning experience and research helps ensure that students are adequately prepared to represent their profession as part of a diverse interprofessional health care team.
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5. Lisik MZ, Janas-Kozik M, Krupka-Matuszczyk I, Sieron AL. {{[Fragile X syndrome–child’s and parent’s problem]}}. {Psychiatria polska}. 2011 May-Jun;45(3):357-65.
Fragile X syndrome is the most common familial form of mental retardation. The incidence is estimated to be 1 in 4000 male births. The disease is caused by amplification oftrinucleotide repeats CGG in the first exon of FMR1 gene, located on the distal part of the long arm of the X chromosome. The main symptom of the disease is mental retardation, usually of moderate or profound degree. Characteristic clinical features of the disease observed in the affected person after puberty involve: an elongated face, large protruding ears and macroorchidism. Diagnosis is usually made late, when the child is 3-4 years old. Making diagnosis early is very difficult because of a lack of specific symptoms. We can observe developmental delay in children, with very late development of speech and behavioural problems with autistic features. Early diagnosis is very important, because its identification of high genetic family risk. The risk of recurrence for next children is as high as 50% and is stable for each pregnancy.
6. McDonald ME, Paul JF. {{Response to Comment on « Timing of Increased Autistic Disorder Cumulative Incidence »}}. {Environ Sci Technol}. 2012 Jan 12.
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7. Tabet AC, Pilorge M, Delorme R, Amsellem F, Pinard JM, Leboyer M, Verloes A, Benzacken B, Betancur C. {{Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother}}. {European journal of human genetics : EJHG}. 2012 Jan 11.
The pericentromeric region of chromosome 16p is rich in segmental duplications that predispose to rearrangements through non-allelic homologous recombination. Several recurrent copy number variations have been described recently in chromosome 16p. 16p11.2 rearrangements (29.5-30.1 Mb) are associated with autism, intellectual disability (ID) and other neurodevelopmental disorders. Another recognizable but less common microdeletion syndrome in 16p11.2p12.2 (21.4 to 28.5-30.1 Mb) has been described in six individuals with ID, whereas apparently reciprocal duplications, studied by standard cytogenetic and fluorescence in situ hybridization techniques, have been reported in three patients with autism spectrum disorders. Here, we report a multiplex family with three boys affected with autism, including two monozygotic twins carrying a de novo 16p11.2p12.2 duplication of 8.95 Mb (21.28-30.23 Mb) characterized by single-nucleotide polymorphism array, encompassing both the 16p11.2 and 16p11.2p12.2 regions. The twins exhibited autism, severe ID, and dysmorphic features, including a triangular face, deep-set eyes, large and prominent nasal bridge, and tall, slender build. The eldest brother presented with autism, mild ID, early-onset obesity and normal craniofacial features, and carried a smaller, overlapping 16p11.2 microdeletion of 847 kb (28.40-29.25 Mb), inherited from his apparently healthy father. Recurrent deletions in this region encompassing the SH2B1 gene were recently reported in early-onset obesity and in individuals with neurodevelopmental disorders associated with phenotypic variability. We discuss the clinical and genetic implications of two different 16p chromosomal rearrangements in this family, and suggest that the 16p11.2 deletion in the father predisposed to the formation of the duplication in his twin children.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.244.
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8. Williams BL, Hornig M, Parekh T, Lipkin WI. {{Application of Novel PCR-Based Methods for Detection, Quantitation, and Phylogenetic Characterization of Sutterella Species in Intestinal Biopsy Samples from Children with Autism and Gastrointestinal Disturbances}}. {mBio}. 2012;3(1).
ABSTRACT Gastrointestinal disturbances are commonly reported in children with autism and may be associated with compositional changes in intestinal bacteria. In a previous report, we surveyed intestinal microbiota in ileal and cecal biopsy samples from children with autism and gastrointestinal dysfunction (AUT-GI) and children with only gastrointestinal dysfunction (Control-GI). Our results demonstrated the presence of members of the family Alcaligenaceae in some AUT-GI children, while no Control-GI children had Alcaligenaceae sequences. Here we demonstrate that increased levels of Alcaligenaceae in intestinal biopsy samples from AUT-GI children result from the presence of high levels of members of the genus Sutterella. We also report the first Sutterella-specific PCR assays for detecting, quantitating, and genotyping Sutterella species in biological and environmental samples. Sutterella 16S rRNA gene sequences were found in 12 of 23 AUT-GI children but in none of 9 Control-GI children. Phylogenetic analysis revealed a predominance of either Sutterella wadsworthensis or Sutterella stercoricanis in 11 of the individual Sutterella-positive AUT-GI patients; in one AUT-GI patient, Sutterella sequences were obtained that could not be given a species-level classification based on the 16S rRNA gene sequences of known Sutterella isolates. Western immunoblots revealed plasma IgG or IgM antibody reactivity to Sutterella wadsworthensis antigens in 11 AUT-GI patients, 8 of whom were also PCR positive, indicating the presence of an immune response to Sutterella in some children. IMPORTANCE Autism spectrum disorders affect ~1% of the population. Many children with autism have gastrointestinal (GI) disturbances that can complicate clinical management and contribute to behavioral problems. Understanding the molecular and microbial underpinnings of these GI issues is of paramount importance for elucidating pathogenesis, rendering diagnosis, and administering informed treatment. Here we describe an association between high levels of intestinal, mucoepithelial-associated Sutterella species and GI disturbances in children with autism. These findings elevate this little-recognized bacterium to the forefront by demonstrating that Sutterella is a major component of the microbiota in over half of children with autism and gastrointestinal dysfunction (AUT-GI) and is absent in children with only gastrointestinal dysfunction (Control-GI) evaluated in this study. Furthermore, these findings bring into question the role Sutterella plays in the human microbiota in health and disease. With the Sutterella-specific molecular assays described here, some of these questions can begin to be addressed.
