1. Bramswig NC, Ludecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, Kleefstra T, Wieczorek D. {{Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism}}. {Hum Genet};2016 (Nov 15)
The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised function of members of the ubiquitin pathway leads to a wide range of human diseases, such as cancer, neurodegenerative diseases, and neurodevelopmental disorders. Mutations in the thyroid hormone receptor interactor 12 (TRIP12) gene (OMIM 604506), which encodes an E3 ligase in the ubiquitin pathway, have been associated with autism spectrum disorder (ASD). In addition to autistic features, TRIP12 mutation carriers showed intellectual disability (ID). More recently, TRIP12 was postulated as a novel candidate gene for intellectual disability in a meta-analysis of published ID cohorts. However, detailed clinical information characterizing the phenotype of these individuals was not provided. In this study, we present seven novel individuals with private TRIP12 mutations including two splice site mutations, one nonsense mutation, three missense mutations, and one translocation case with a breakpoint in intron 1 of the TRIP12 gene and clinically review four previously published cases. The TRIP12 mutation-positive individuals presented with mild to moderate ID (10/11) or learning disability [intelligence quotient (IQ) 76 in one individual], ASD (8/11) and some of them with unspecific craniofacial dysmorphism and other anomalies. In this study, we provide detailed clinical information of 11 TRIP12 mutation-positive individuals and thereby expand the clinical spectrum of the TRIP12 gene in non-syndromic intellectual disability with or without ASD.
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2. Clark ML, Barbaro J, Dissanayake C. {{Continuity and Change in Cognition and Autism Severity from Toddlerhood to School Age}}. {J Autism Dev Disord};2016 (Nov 15)
This paper charted the cognitive and behavioural profiles from toddlerhood to middle childhood in 48 children diagnosed with ASD at 24-months. The Mullen Scales of Early Learning (MSEL) was administered at 24- and 48-months and the Wechsler Abbreviated Scale of Intelligence (WASI) at school age. Autism severity was derived using The Autism Diagnostic Observation Schedule (ADOS) Results: Developmental Disability/Intellectual Disability (DD/ID; Developmental Quotient <70) reduced from 64% at 24-months to 8% at outcome. Seventy-three percent of children continued to meet ADOS cut-off at school age. CONCLUSION: Diagnoses at 24-months, appear to be reliable and stable. Further research is needed to investigate whether early identification, which provides more opportunity to access early intervention, may in turn facilitate cognitive development over time. Lien vers le texte intégral (Open Access ou abonnement)
3. Joseph RM, Korzeniewski SJ, Allred EN, O’Shea TM, Heeren T, Frazier JA, Ware J, Hirtz D, Leviton A, Kuban K. {{Extremely low gestational age and very low birth weight for gestational age are risk factors for ASD in a large cohort study of 10-year-old children born at 23-27 weeks gestation}}. {Am J Obstet Gynecol};2016 (Nov 12)
BACKGROUND: No prospective cohort study of high-risk children has used rigorous exposure assessment and optimal diagnostic procedures to examine the perinatal antecedents of autism spectrum disorder (ASD), separately among those with and without cognitive impairment. OBJECTIVE: To identify perinatal factors associated with increased risk for ASD with and without intellectual disability (ID: IQ < 70) in children born extremely preterm. STUDY DESIGN: This prospective multi-center (14 institutions in 5 states) birth cohort study included children born at 23-27 weeks gestation in 2002-2004 who were evaluated for ASD and ID at age 10 years. Pregnancy information was obtained from medical records and by structured maternal interview. Cervical-vaginal 'infection' refers to maternal report of bacterial infection (n = 4), bacterial vaginosis (n = 30), yeast infection (n = 62), mixed infection (n = 4) or other/unspecified infection (n=43; e.g., chlamydia, trichomonas or herpes, etc.). We do not know the extent to which 'infection' per se was confirmed by microbial colonization. We use the terms 'fetal growth restriction' and 'small for gestational age' interchangeably in light of the ongoing challenge to discern pathologically from constitutionally small newborns. Severe fetal growth-restriction was defined as a birth weight Z-score for gestational age at delivery < - 2 (i.e., 2 standard deviations or more below the median birth weight in a referent sample that excluded pregnancies delivered for preeclampsia or fetal indications). Participants were classified into four groups based on whether or not they met rigorous diagnostic criteria for ASD and ID (ASD+/ID-, ASD+/ID+, ASD-/ID+ and ASD-/ID-). Temporally-ordered multinomial logistic regression models were used to examine the information conveyed by perinatal factors about increased risk for ASD and/or ID (ASD+/ID-, ASD+/ID+ and ASD-/ID+). RESULTS: 889 of 966 (92%) children recruited were assessed at age 10 years, of whom 857 (96%) were assessed for ASD; of these, 840 (98%) children were assessed for ID. ASD+/ID- was diagnosed in 3.2% (27/840), ASD+/ID+ in 3.8% (32/840), and ASD-/ID+ in 8.5% (71/840). Maternal report of presumed cervical-vaginal 'infection' during pregnancy was associated with increased risk of ASD+/ID+ (odd ratio [OR], 2.7; 95% CI, 1.2-6.4). The lowest gestational age category (23-24 weeks) was associated with increased risk of ASD+/ID+ (OR, 2.9; 95% CI, 1.3-6.6) and ASD+/ID- (OR, 4.4; 95% CI, 1.7-11). Severe fetal growth restriction was strongly associated with increased risk for ASD+/ID- (OR, 9.9; 95% CI, 3.3-30), whereas peripartum maternal fever was uniquely associated with increased risk of ASD-/ID+ (OR, 2.9; 95% CI, 1.2-6.7). CONCLUSION: Our study confirms that low gestational age is associated with increased risk for ASD irrespective of intellectual ability, whereas severe fetal growth restriction is strongly associated with ASD without ID. Maternal report of cervical-vaginal infection is associated with increased risk of ASD with ID, and peripartum maternal fever is associated with increased risk for ID without ASD. Lien vers le texte intégral (Open Access ou abonnement)
4. Lever AG, Ridderinkhof KR, Marsman M, Geurts HM. {{Reactive and Proactive Interference Control in Adults With Autism Spectrum Disorder Across the Lifespan}}. {Dev Psychol};2016 (Nov 17)
As a large heterogeneity is observed across studies on interference control in autism spectrum disorder (ASD), research may benefit from the use of a cognitive framework that models specific processes underlying reactive and proactive control of interference. Reactive control refers to the expression and suppression of responses and proactive control refers to the adjustment of response to previous situations. We administered a Simon conflict task in 2 independent adult samples (IQ >80) and applied distributional analyses to examine temporal dynamics of interference control in ASD. Along comparable interference effects in both reactive and proactive control, young men (n = 23, 18-36 years) diagnosed with ASD made as many fast errors on conflict trials as neurotypical controls (n = 19) and showed similar suppression on slow responses (Study 1). However, over the adult life span (19-79 years), individuals with ASD (n = 118) made fewer fast errors on conflict trials, and had overall slower and more accurate responses than controls (n = 160; Study 2). These results converge to the idea that individuals with ASD adopt a more cautious response bias over the adult life span, which is not yet observed among young adults. Our findings suggest that it is fruitful to distinguish different processes involved in interference control and contribute to an increased understanding of interference control mechanisms in adults with ASD. (PsycINFO Database Record
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5. Mayer JL. {{The Relationship Between Autistic Traits and Atypical Sensory Functioning in Neurotypical and ASD Adults: A Spectrum Approach}}. {J Autism Dev Disord};2016 (Nov 15)
Sensory processing atypicalities are a common feature in Autism Spectrum Disorders (ASD) and have previously been linked to a range of behaviours in individuals with ASD and atypical neurological development. More recently research has demonstrated a relationship between autistic traits in the neurotypical (NT) population and increased levels of atypical sensory behaviours. The aim of the present study is to extend previous research by examining specific patterns across aspects of autistic traits and sensory behaviours within both ASD and NT populations. The present study recruited 580 NT adults and 42 high-functioning ASD adults with a confirmed diagnosis to investigate the relationship between specific aspects of autistic traits and sensory processing using the subscales of the autism spectrum quotient (AQ) and adult/adolescent sensory profile (AASP). Results showed a significant relationship between all subscales except for attention to detail and imagination on the AQ and provided the first evidence that the strength and pattern of this relationship is identical between NT and ASD adults. These data also provided support for the broader autism phenotype, uncovering a clear progression of sensory atypicalities in line with an increase in autistic traits, regardless of diagnostic status, which has potential implications for the spectrum approach to ASD and how sensory behaviours across the whole of the neurotypical population are conceptualised.
