1. {{Erratum: « Perinatal Air Pollutant Exposures and Autism Spectrum Disorder in the Children of Nurses’ Health Study II Participants »}}. {Environ Health Perspect};2014 (Jun 1);122(6):A152.
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2. Adlof SM, Klusek J, Shinkareva SV, Robinson ML, Roberts JE. {{Phonological awareness and reading in boys with fragile X syndrome}}. {J Child Psychol Psychiatry};2014 (Jun 3)
BACKGROUND: Reading delays are well documented in children with fragile X syndrome (FXS), but few studies have examined linguistic precursors of reading in this population. This study examined the longitudinal development of phonological awareness and its relationship with basic reading in boys with FXS. Individual differences in genetic, social-behavioral and environmental factors were also investigated as predictors of phonological awareness. METHODS: Participants included 54 boys with FXS and 53 typically developing (TD) mental age-matched peers who completed assessments of phonological awareness, nonverbal intelligence, and reading annually for up to 4 years. FMRP level and autism symptomatology were also measured within the FXS group. Hierarchical linear modeling was used to examine change in phonological awareness over time and its predictors. Linear regression was used to examine phonological awareness as a predictor of word reading. RESULTS: Boys with FXS exhibited slower growth than TD peers in phonological awareness only when nonverbal cognitive abilities were not controlled. The rate of change in phonological awareness decreased significantly after age 10 in boys with FXS. Phonological awareness accounted for 18% unique variance in basic reading ability after controlling for nonverbal cognition, with similar relationships across groups. CONCLUSION: Phonological awareness skills in the boys with FXS were commensurate with their nonverbal cognitive abilities, with similar relationships between phonological awareness and reading as observed in the TD mental age-matched peers. More research is needed to examine potential causal relationships between phonological awareness, other language skills, and reading abilities in individuals with FXS and other neurodevelopmental disorders.
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3. An JY, Cristino AS, Zhao Q, Edson J, Williams SM, Ravine D, Wray J, Marshall VM, Hunt A, Whitehouse AJ, Claudianos C. {{Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach}}. {Transl Psychiatry};2014;4:e394.
The hypothetical ‘AXAS’ gene network model that profiles functional patterns of heterogeneous DNA variants overrepresented in autism spectrum disorder (ASD), X-linked intellectual disability, attention deficit and hyperactivity disorder and schizophrenia was used in this current study to analyze whole exome sequencing data from an Australian ASD cohort. An optimized DNA variant filtering pipeline was used to identify loss-of-function DNA variations. Inherited variants from parents with a broader autism phenotype and de novo variants were found to be significantly associated with ASD. Gene ontology analysis revealed that putative rare causal variants cluster in key neurobiological processes and are overrepresented in functions involving neuronal development, signal transduction and synapse development including the neurexin trans-synaptic complex. We also show how a complex gene network model can be used to fine map combinations of inherited and de novo variations in families with ASD that converge in the L1CAM pathway. Our results provide an important step forward in the molecular characterization of ASD with potential for developing a tool to analyze the pathogenesis of individual affected families.
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4. Baron-Cohen S, Auyeung B, Norgaard-Pedersen B, Hougaard DM, Abdallah MW, Melgaard L, Cohen AS, Chakrabarti B, Ruta L, Lombardo MV. {{Elevated fetal steroidogenic activity in autism}}. {Mol Psychiatry};2014 (Jun 3)
Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor. Utilizing the Danish Historic Birth Cohort and Danish Psychiatric Central Register, we identified all amniotic fluid samples of males born between 1993 and 1999 who later received ICD-10 (International Classification of Diseases, 10th Revision) diagnoses of autism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128) compared with matched typically developing controls. Concentration levels of Delta4 sex steroids (progesterone, 17alpha-hydroxy-progesterone, androstenedione and testosterone) and cortisol were measured with liquid chromatography tandem mass spectrometry. All hormones were positively associated with each other and principal component analysis confirmed that one generalized latent steroidogenic factor was driving much of the variation in the data. The autism group showed elevations across all hormones on this latent generalized steroidogenic factor (Cohen’s d=0.37, P=0.0009) and this elevation was uniform across ICD-10 diagnostic label. These results provide the first direct evidence of elevated fetal steroidogenic activity in autism. Such elevations may be important as epigenetic fetal programming mechanisms and may interact with other important pathophysiological factors in autism.Molecular Psychiatry advance online publication, 3 June 2014; doi:10.1038/mp.2014.48.
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5. Hubbard KL, Bandini LG, Folta SC, Wansink B, Must A. {{The Adaptation of a School-based Health Promotion Programme for Youth with Intellectual and Developmental Disabilities: A Community-Engaged Research Process}}. {J Appl Res Intellect Disabil};2014 (Jun 3)
BACKGROUND: Evidenced-based health promotion programmes for youth with intellectual and developmental disabilities (I/DD) are notably absent. Barriers include a lack of understanding of how to adapt existing evidence-based programmes to their needs, maximize inclusion and support mutual goals of health and autonomy. METHODS: We undertook a community-engaged process to adapt a school-based nutrition intervention in a residential school for youth with I/DD. Focus groups and interviews with school staff elicited recommendations for adaptation strategies; these were then reviewed by an expert panel. RESULTS: Adaptations were developed to address needs in three categories: food-related challenges among students, adjusting to change and transition and social environment factors. Choice and heterogeneity were overarching themes across the adaptation categories. CONCLUSIONS: Future research should consider community-engaged approaches for adaptation so that youth with I/DD can participate and benefit from evidence-based health promotion programmes to their maximum potential.
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6. Kenley B. {{Autism: Nightmare Without End}}. {J Psychosoc Nurs Ment Health Serv};1984 (Jan 1);22(1):42.
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7. Loukusa S, Makinen L, Kuusikko-Gauffin S, Ebeling H, Moilanen I. {{Theory of mind and emotion recognition skills in children with specific language impairment, autism spectrum disorder and typical development: group differences and connection to knowledge of grammatical morphology, word-finding abilities and verbal working memory}}. {Int J Lang Commun Disord};2014 (May 29)
BACKGROUND: Social perception skills, such as understanding the mind and emotions of others, affect children’s communication abilities in real-life situations. In addition to autism spectrum disorder (ASD), there is increasing knowledge that children with specific language impairment (SLI) also demonstrate difficulties in their social perception abilities. AIMS: To compare the performance of children with SLI, ASD and typical development (TD) in social perception tasks measuring Theory of Mind (ToM) and emotion recognition. In addition, to evaluate the association between social perception tasks and language tests measuring word-finding abilities, knowledge of grammatical morphology and verbal working memory. METHOD & PROCEDURES: Children with SLI (n = 18), ASD (n = 14) and TD (n = 25) completed two NEPSY-II subtests measuring social perception abilities: (1) Affect Recognition and (2) ToM (includes Verbal and non-verbal Contextual tasks). In addition, children’s word-finding abilities were measured with the TWF-2, grammatical morphology by using the Grammatical Closure subtest of ITPA, and verbal working memory by using subtests of Sentence Repetition or Word List Interference (chosen according the child’s age) of the NEPSY-II. OUTCOMES & RESULTS: Children with ASD scored significantly lower than children with SLI or TD on the NEPSY-II Affect Recognition subtest. Both SLI and ASD groups scored significantly lower than TD children on Verbal tasks of the ToM subtest of NEPSY-II. However, there were no significant group differences on non-verbal Contextual tasks of the ToM subtest of the NEPSY-II. Verbal tasks of the ToM subtest were correlated with the Grammatical Closure subtest and TWF-2 in children with SLI. In children with ASD correlation between TWF-2 and ToM: Verbal tasks was moderate, almost achieving statistical significance, but no other correlations were found. CONCLUSIONS & IMPLICATIONS: Both SLI and ASD groups showed difficulties in tasks measuring verbal ToM but differences were not found in tasks measuring non-verbal Contextual ToM. The association between Verbal ToM tasks and language tests was stronger in children with SLI than in children with ASD. There is a need for further studies in order to understand interaction between different areas of language and cognitive development.
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8. Murphy SK. {{Obesity: Paternal obesity-a risk factor for autism?}}. {Nat Rev Endocrinol};2014 (Jun 3)
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9. Pickles A, Anderson DK, Lord C. {{Heterogeneity and plasticity in the development of language: a 17-year follow-up of children referred early for possible autism}}. {J Child Psychol Psychiatry};2014 (May 30)
BACKGROUND: Delayed, abnormal language is a common feature of autism and language therapy often a significant component of recommended treatment. However, as with other disorders with a language component, we know surprisingly little about the language trajectories and how varied these might be across different children. Thus, we know little about how and when language problems might resolve, whether there are periods of relative stability or lack of change and what periods might offer more favourable circumstances for intervention. METHODS: Expressive and receptive language was measured on six occasions between age 2 and 19 on a cohort of 192 children initially referred for autism. Latent class growth models were fitted to characterize the patterns of heterogeneous development. RESULTS: Latent class growth analysis identified seven classes. Between age 6 and 19, all classes tracked in parallel. Between ages 2 and 6, development was more heterogeneous with considerable variation in relative progress. In all groups, receptive and expressive language developed very largely in tandem. CONCLUSIONS: The results confirmed previous analysis of children with specific language impairment where progress beyond age 6 was remarkably uniform. Greater variation was evident before this age with some groups making clearly better or worse progress compared to others. While this developmental heterogeneity may simply be a reflection of variation in preexisting and unchanging biological disposition, it may also reflect, at least in part, greater sensitivity in the early years to environments that are more or less supportive of language development. These findings contribute to the case for the importance of early intervention.
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10. Stavropoulos KK, Carver LJ. {{Reward anticipation and processing of social versus nonsocial stimuli in children with and without autism spectrum disorders}}. {J Child Psychol Psychiatry};2014 (May 30)
BACKGROUND: How children respond to social and nonsocial rewards has important implications for both typical and atypical social-cognitive development. Individuals with autism spectrum disorders (ASD) are thought to process rewards differently than typically developing (TD) individuals. However, there is little direct evidence to support this claim. METHODS: Two event-related potentials were measured. The stimulus preceding negativity (SPN) was utilized to measure reward anticipation, and the feedback related negativity (FRN) was utilized to measure reward processing. Participants were 6- to 8-year-olds with (N = 20) and without (N = 23) ASD. Children were presented with rewards accompanied by incidental face or nonface stimuli. Nonface stimuli were composed of scrambled face elements in the shape of arrows, controlling for low-level visual properties. RESULTS: Children with ASD showed smaller responses while anticipating and processing rewards accompanied by social stimuli than TD children. Anticipation and processing of rewards accompanied by nonsocial stimuli was intact in children with ASD. CONCLUSIONS: This is the first study to measure both reward anticipation and processing in ASD while controlling for reward properties. The findings provide evidence that children with autism have reward anticipation and processing deficits for social stimuli only. Our results suggest that while typically developing children find social stimuli more salient than nonsocial stimuli, children with ASD may have the opposite preference.
