1. Adamson J, Leppanen J, Murin M, Tchanturia K. {{Effectiveness of emotional skills training for patients with anorexia nervosa with autistic symptoms in group and individual format}}. {European eating disorders review : the journal of the Eating Disorders Association}. 2018.
OBJECTIVE: The aim of this study was to examine the effectiveness of CREST interventions in individual and group formats for adult anorexia nervosa. Furthermore, this study also aims to analyse whether patients with high levels of autistic symptoms respond differently. METHODS: Participants’ self-report measures were taken before and after individual and group interventions (N = 66 and N = 62, respectively). Mixed effects analysis was used to analyse overall response to both formats and assess interaction with autism symptoms. RESULTS: Significant improvements were observed for patients’ alexithymia in individual format, and motivation increased for participants in both interventions. Significant interactions were observed between alexithymia, social anhedonia, and autism symptoms in individual format and alexithymia in group format. No interactions between autism and time were observed for either format. CONCLUSIONS: CREST in both formats offers participants improvements in social-emotional and motivational domains. Patients with high levels of autism symptoms also score high on both social anhedonia and alexithymia measures, but this does not affect their response to treatment.
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2. Avino TA, Barger N, Vargas MV, Carlson EL, Amaral DG, Bauman MD, Schumann CM. {{Neuron numbers increase in the human amygdala from birth to adulthood, but not in autism}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018; 115(14): 3710-5.
Remarkably little is known about the postnatal cellular development of the human amygdala. It plays a central role in mediating emotional behavior and has an unusually protracted development well into adulthood, increasing in size by 40% from youth to adulthood. Variation from this typical neurodevelopmental trajectory could have profound implications on normal emotional development. We report the results of a stereological analysis of the number of neurons in amygdala nuclei of 52 human brains ranging from 2 to 48 years of age [24 neurotypical and 28 autism spectrum disorder (ASD)]. In neurotypical development, the number of mature neurons in the basal and accessory basal nuclei increases from childhood to adulthood, coinciding with a decrease of immature neurons within the paralaminar nucleus. Individuals with ASD, in contrast, show an initial excess of amygdala neurons during childhood, followed by a reduction in adulthood across nuclei. We propose that there is a long-term contribution of mature neurons from the paralaminar nucleus to other nuclei of the neurotypical human amygdala and that this growth trajectory may be altered in ASD, potentially underlying the volumetric changes detected in ASD and other neurodevelopmental or neuropsychiatric disorders.
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3. Fisher A, Engel C, Geist R, Lillie K, Lutman S, Travers BG. {{Brief Report: Postural Balance and Daily Living Skills in Children and Adolescents with Autism}}. {J Autism Dev Disord}. 2018.
The current study investigated the relation between postural balance and performance of daily living skills (DLS) in youth with autism spectrum disorder (ASD). Fifty-two youth with ASD (6-17 years; IQ >/= 67) completed standardized balance testing and parent-reported DLS measures. Results showed a positive association between balance and DLS that was specific to youth with below-average IQ. While balance challenges were evident across the IQ spectrum, youth with above-average IQ did not exhibit an association between balance and DLS, perhaps suggestive of compensatory strategies implemented to offset balance challenges during daily-living tasks. These results underscore the need to better understand the contributions of motor challenges to DLS in youth with ASD within the context of broader cognitive and environmental factors.
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4. Fishman J, Beidas R, Reisinger E, Mandell DS. {{The Utility of Measuring Intentions to Use Best Practices: A Longitudinal Study Among Teachers Supporting Students With Autism}}. {The Journal of school health}. 2018; 88(5): 388-95.
BACKGROUND: School-based interventions can result in profound social, behavioral, and academic improvement for students with autism, but teachers rarely implement them. It is important to understand why this occurs and use this information to increase the use of evidence-based practices. Toward this goal, 2 proof-of-construct studies demonstrate the theoretical and methodological advantages of measuring behavioral intentions to use specific practices. METHODS: Two observational studies enrolled public school teachers who work with students with autism. The studies measure the strength of teachers’ intentions to use each of 4 different evidence-based practices, assess variability in intentions, and test whether intentions predict future teacher behavior. RESULTS: In adjusted analyses, intentions to use a specific evidence-based practice were strongly associated with subsequent use (adjusted odds ratio = 5.2). The proportion of teachers who reported strong intentions varied from a low of 33% to a high of 66%, depending on the practice. CONCLUSIONS: The findings illustrate that the strength of intentions, which varies depending on the specific practice, can predict implementation. More generally, the studies demonstrate how measures of intention can aid efforts to identify implementation barriers. The approach taken can be applied to study implementation of any practices designed to improve student health.
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5. Holloway JM, Long T, Biasini F. {{Concurrent Validity of Two Standardized Measures of Gross Motor Function in Young Children with Autism Spectrum Disorder}}. {Phys Occup Ther Pediatr}. 2018: 1-11.
AIMS: This study provides information on how two standardized measures based on different theoretical frameworks can be used in collecting information on motor development and performance in 4- and 5-year-olds with autism spectrum disorder (ASD). The purpose of the study was to determine the concurrent validity of the Miller Function and Participation Scales (M-FUN) with the Peabody Developmental Motor Scales, Second Edition (PDMS-2) in young children with ASD. METHODS: The gross motor sections of the PDMS-2 and the M-FUN were administered to 22 children with ASD between the ages of 48 and 71 months. Concurrent validity between overall motor scores and agreement in identification of motor delay were assessed. RESULTS: A very strong correlation (Pearson’s r =.851) was found between the M-FUN scale scores and the PDMS-2 gross motor quotients (GMQs). Strong agreement in identification of children with average motor skills and delayed motor skills at 1.5 standard deviations below the mean was also found. CONCLUSIONS: This study supports the concurrent validity of the M-FUN with the PDMS-2 for young children with ASD. While both tests provide information regarding motor delay, the M-FUN may provide additional information regarding the neurological profile of the child.
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6. Onol S, Kirzioglu Z. {{Evaluation of oral health status and influential factors in children with autism}}. {Niger J Clin Pract}. 2018; 21(4): 429-35.
Aims: The aim of the present study was to comparatively analyze oral health status and influential factors in children with autism living in the Western Mediterranean Region of Turkey. Subjects and Methods: This cross-sectional study was conducted in two steps: 1 – questionnaire and 2 – interview. This study was conducted at the Department of Pediatric Dentistry, Faculty of Dentistry, Suleyman Demirel University, Isparta, Turkey, within the period from March to July 2016. Although the questionnaire part involved 126 children with autism and 111 children without autism, 63 children who did not satisfy the inclusion criteria were excluded from the study in the interview part. The forms were sent to previously determined schools, and factors such as age, socioeconomic status, medical history, dental history, eating habits, bad habits, and treatment methods preferred by children’s parents were analyzed. Later, interviews with the children were carried out by the same researcher and their oral health conditions were recorded. Results: Children with autism often have nutritional problems, and early initiation of special education appears effective in preventing these conditions. Although children with autism apply for dental services, the rate for these children receiving dental services is considerably low and most of the services rendered are tooth extractions. Conclusion: It appears that the oral status of children with autism is affected negatively by many factors. Thus, the parents, the educators, and the dentists should be aware of this fact and encouraged to improve such children’s oral hygiene and provide the dental care they need.
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7. Qualls LR, Hartmann K, Paulson JF. {{Broad Autism Phenotypic Traits and the Relationship to Sexual Orientation and Sexual Behavior}}. {J Autism Dev Disord}. 2018.
Individuals with higher levels of the broad autism phenotype (BAP) have some symptoms of autism spectrum disorder (ASD). Like individuals with ASD, people with higher-BAP may have fewer sexual experiences and may experience more same-sex attraction. This study measured BAP traits, sexual experiences, and sexual orientation in typically developing (TD) individuals to see if patterns of sexual behavior and sexual orientation in higher-BAP resemble those in ASD. Although BAP characteristics did not predict sexual experiences, one BAP measure significantly predicted sexual orientation, beta = 0.22, t = 2.72, p = .007, controlling for demographic variables (R (2) change = .04, F = 7.41, p = .007), showing individuals with higher-BAP also reported increased same-sex attraction. This finding supports the hypothesis that individuals with higher-BAP resemble ASD individuals in being more likely than TD individuals to experience same-sex attraction.
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8. Salomone E, Shephard E, Milosavljevic B, Johnson MH, Charman T. {{Adaptive Behaviour and Cognitive Skills: Stability and Change from 7 Months to 7 Years in Siblings at High Familial Risk of Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Cognitive and adaptive behaviour abilities early in life provide important clinical prognostic information. We examined stability of such skills in children at high familial risk for ASD who either met diagnostic criteria for ASD at age 7 years (HR-ASD, n = 15) or did not (HR-non-ASD, n = 24) and low-risk control children (LR, n = 37), prospectively studied from infancy. For both HR groups, cognitive skills were consistently lower across time than those of LR children. HR-ASD children showed increasing difficulties in adaptive behaviour over time compared to LR children, while the HR-non-ASD children showed no such difficulties. This pattern of change may inform our understanding of developmental profiles of HR siblings beyond core ASD symptoms.
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9. Snape S, Krott A, McCleery JP. {{Do Children with Autism Spectrum Disorder Benefit from Structural Alignment When Constructing Categories?}}. {J Autism Dev Disord}. 2018.
Individuals with ASD seem to construct categories via processes different to typically developing individuals. We examined whether individuals with ASD engage in structural alignment of exemplars when constructing categories. We taught children with ASD and typically developing children novel nouns for either single or multiple exemplars, and then examined their extensions of the learned nouns to objects that were either a perceptual or conceptual match to the original exemplar(s). Results indicated that, unlike typically developing participants, those with ASD gained no benefit from seeing multiple exemplars of the category and, thus, did not appear to engage in structural alignment in their formation of categories. However, they demonstrated superior performance compared to typically developing children when presented with a single exemplar.
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10. Wong CW, Or PMY, Wang Y, Li L, Li J, Yan M, Cao Y, Luk HM, Tong TMF, Leslie NR, Lo IF, Choy KW, Chan AML. {{Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly}}. {Autism Res}. 2018.
PTEN is a tumor suppressor gene inactivated in over 30% of human cancers. It encodes a lipid phosphatase that serves as a gatekeeper of the phosphoinositide 3-kinase signaling pathway. Germline mutation frequently occurs in this gene in patients diagnosed with PTEN Hamartoma Tumor Syndrome (PHTS). PHTS individuals are characterized by macrocephaly, benign growth of multiple tissues and increased tumor risk. In addition, autistic phenotypes are found in 10-20% of individuals carrying the germline PTEN mutation with macrocephaly. In this report, 13 suspected PHTS patients were screened for mutation in the PTEN gene. A missense variant (c. 302T > C) substituting the isoleucine at codon 101 to a threonine, a single nucleotide insertion (c. 327-328insC) causing a frame shift mutation and termination at codon 109, and a nonsense variant (c. 1003C > T) truncated the protein at codon 335 were identified. The I101T mutation significantly reduced PTEN protein expression levels by 2.5- to 4.0-fold. Mechanistically, I101T reduced the protein half-life of PTEN possibly due to enhanced polyubiquitination at Lysine 13. However, the I101T mutant retained almost 30% of the lipid phosphatase activity of the wild-type protein. Finally, the I101T mutant has reduced phosphorylation at a PTEN auto-dephosphorylation site at Threonine 366 and a lowered ratio of nuclear to cytosolic protein level. These partial losses of multiple PTEN biochemical functions may contribute to the tissue overgrowth and autistic features of this PHTS patient. Autism Res 2018. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: The genetics of autism spectrum disorders is highly complex with individual risk influenced by both genetic and environmental factors. Mutation in the human PTEN gene confers a high risk of developing autistic behavior. This report revealed that PTEN mutations occurred in 23% of a selected group of Hong Kong patients harboring autistic features with gross overgrowth symptoms. Detailed characterization of a PTEN mutation revealed reduced protein stability as one of the underlying mechanisms responsible for reduced PTEN activity.
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11. Zhang L, Li K, Zhang C, Qi X, Zheng N, Wang G. {{Arcuate Fasciculus in Autism Spectrum Disorder Toddlers with Language Regression}}. {Open medicine (Warsaw, Poland)}. 2018; 13: 90-5.
Language regression is observed in a subset of toddlers with autism spectrum disorder (ASD) as initial symptom. However, such a phenomenon has not been fully explored, partly due to the lack of definite diagnostic evaluation methods and criteria. MATERIALS AND METHODS: Fifteen toddlers with ASD exhibiting language regression and fourteen age-matched typically developing (TD) controls underwent diffusion tensor imaging (DTI). DTI parameters including fractional anisotropy (FA), average fiber length (AFL), tract volume (TV) and number of voxels (NV) were analyzed by Neuro 3D in Siemens syngo workstation. Subsequently, the data were analyzed by using IBM SPSS Statistics 22. RESULTS: Compared with TD children, a significant reduction of FA along with an increase in TV and NV was observed in ASD children with language regression. Note that there were no significant differences between ASD and TD children in AFL of the arcuate fasciculus (AF). CONCLUSIONS: These DTI changes in the AF suggest that microstructural anomalies of the AF white matter may be associated with language deficits in ASD children exhibiting language regression starting from an early age.
