1. Akemoglu Y, Tomeny KR. {{A Parent-Implemented Shared-Reading Intervention to Promote Communication Skills of Preschoolers with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
In the current study, we examined the effect of a parent-implemented early communication intervention during shared book reading. Three mothers of children with autism spectrum disorder were trained and coached to use a set of reading techniques and evidenced-based naturalistic communication teaching strategies (i.e., modeling, mand-model, and time delay). Using a multiple-baseline design across behaviors, the following three components were examined: (a) the mothers’ use of reading techniques with fidelity, (b) the mothers’ rate and fidelity in using the three naturalistic teaching strategies, and (c) the children’s communication outcomes. After training and coaching, the mothers used the reading techniques and naturalistic teaching strategies with high fidelity. The children initiated more communicative acts upon their mothers’ use of time delay.
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2. Alshaigi K, Albraheem R, Alsaleem K, Zakaria M, Jobeir A, Aldhalaan H. {{Stigmatization among parents of autism spectrum disorder children in Riyadh, Saudi Arabia}}. {International journal of pediatrics & adolescent medicine}. 2020; 7(3): 140-6.
BACKGROUND: Children diagnosed with autism spectrum disorder (ASD) have social and cognitive disabilities. For parents, these behaviors can lead to humiliation, social exclusion, and isolation. Stigma is a problem that not only may affect the individual with high functioning autism, but has the potential to extend to their family as well. Indeed, research indicates that the parents of children with disabilities (including ASD) commonly experience stigmatizing reactions from others. AIM OF WORK: To determine the prevalence of self and enacted stigma among parents of ASD children from Riyadh, Saudi Arabia, and recognize possible risk factors and causes of stigmatization. MATERIAL AND METHODS: An observational cross-sectional study involving the parents of ASD children from Riyadh, Saudi Arabia. About 163 participants were included from the Centre for Autism Research (CFAR) at King Faisal Specialist Hospital & Research Centre (KFSH & RC) in Riyadh. The primary material used for data collection was a five-point scale questionnaire developed by the investigator. The questionnaire consisted closed ended questions related to the participants’ demographic data, autistic child, family life, resources, and social experiences as a parent. The collected data were analyzed using descriptive statistics and appropriate statistical analysis, using Statistical package for the social sciences (SPSS), version 22. The level of significance was P value < .05. RESULTS: The findings of this work indicated that 55 (33.7%) of the parents scored more than 3 in answering questions related to felt stigma; 82 (50.3%) were fathers. On the other hand, 108 (66.3%) did not feel stigmatized being a parent of autistic child. Forty-two (25.8%) of the parents scored more than 3 in answering questions related to enacted stigma, whereas 121 (74.2%) did not face enacted stigmatization being a parent of autistic child. There was a strong tendency for mothers (41, 75%) to feel more self- and enacted stigmatized than fathers (P < .05). Moreover, the gender of the autistic child, consanguinity, severity of the ASD, and the monthly income of the family showed no significant difference in the parents who scored more than 3 for felt- or enacted stigmatization (P > .05). CONCLUSION: Among participated parents of children with ASD in Riyadh, Saudi Arabia, 33.7% of them experienced stigmatization, and mothers felt more self- and enacted stigmatized when compared to fathers. Public awareness among people in Saudi Arabia have been increased and, thus, negative stigmatization has decreased among parents in the country. A high level of felt stigma suggests the need for psychological intervention for the family to help cope with this new situation. A higher level of enacted stigma suggests the need for their rights (individuals with ASD) and increased awareness in the society. It is recommended that further research is needed in different centers in Riyadh and other regions of Saudi Arabia to investigate the prevalence of stigma in parents of autistic children.
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3. Bletsch A, Schäfer T, Mann C, Andrews DS, Daly E, Gudbrandsen M, Ruigrok ANV, Dallyn R, Romero-Garcia R, Lai MC, Lombardo MV, Craig MC, Suckling J, Bullmore ET, Baron-Cohen S, Murphy DGM, Dell’Acqua F, Ecker C. {{Atypical measures of diffusion at the gray-white matter boundary in autism spectrum disorder in adulthood}}. {Hum Brain Mapp}. 2020.
Autism spectrum disorder (ASD) is a highly complex neurodevelopmental condition that is accompanied by neuroanatomical differences on the macroscopic and microscopic level. Findings from histological, genetic, and more recently in vivo neuroimaging studies converge in suggesting that neuroanatomical abnormalities, specifically around the gray-white matter (GWM) boundary, represent a crucial feature of ASD. However, no research has yet characterized the GWM boundary in ASD based on measures of diffusion. Here, we registered diffusion tensor imaging data to the structural T1-weighted images of 92 adults with ASD and 92 matched neurotypical controls in order to examine between-group differences and group-by-sex interactions in fractional anisotropy and mean diffusivity sampled at the GWM boundary, and at different sampling depths within the superficial white and into the gray matter. As hypothesized, we observed atypical diffusion at and around the GWM boundary in ASD, with between-group differences and group-by-sex interactions depending on tissue class and sampling depth. Furthermore, we identified that altered diffusion at the GWM boundary partially (i.e., ~50%) overlapped with atypical gray-white matter tissue contrast in ASD. Our study thus replicates and extends previous work highlighting the GWM boundary as a crucial target of neuropathology in ASD, and guides future work elucidating etiological mechanisms.
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4. Brooks JD, Bronskill SE, Fu L, Saxena FE, Arneja J, Pinzaru VB, Anagnostou E, Nylen K, McLaughlin J, Tu K. {{Identifying Children and Youth With Autism Spectrum Disorder in Electronic Medical Records: Examining Health System Utilization and Comorbidities}}. {Autism Res}. 2020.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder requiring significant health and educational resources for affected individuals. A reference standard for ASD was generated from an existing population-based cohort of 10,000 children and youth aged 1-24 years who were randomly selected for chart abstraction from 29,256 patients from 119 family physicians. We developed and validated an algorithm to identify children and youth with ASD within an electronic medical record system (N = 80,237, aged 1-24 years) in order to examine the prevalence of comorbidities and quantify health system utilization within the cohort. We identified 1,062 children and youth with ASD representing a prevalence of 1.32%. Compared to individuals without ASD, those with ASD had a higher prevalence of asthma, were more likely to visit a specialist, undergo surgery, and be hospitalized for psychiatric reasons. Children and youth with ASD in Ontario have complex health system needs, illustrated through a significant burden of comorbidities and increased health system utilization. LAY SUMMARY: Our paper generates population-based estimates of health system use by children and youth with ASD, who have a higher burden of comorbidities than the general population. We developed a case-finding algorithm and applied it in electronic medical records to create a cohort of children and youth with ASD, thereby generating an important resource to further study the health care needs of individuals with ASD.
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5. Cogram P, Alkon DL, Crockford D, Deacon RMJ, Hurley MJ, Altimiras F, Sun MK, Tranfaglia M. {{Chronic bryostatin-1 rescues autistic and cognitive phenotypes in the fragile X mice}}. {Sci Rep}. 2020; 10(1): 18058.
Fragile X syndrome (FXS), an X-chromosome linked intellectual disability, is the leading monogenetic cause of autism spectrum disorder (ASD), a neurodevelopmental condition that currently has no specific drug treatment. Building upon the demonstrated therapeutic effects on spatial memory of bryostatin-1, a relatively specific activator of protein kinase C (PKC)ε, (also of PKCα) on impaired synaptic plasticity/maturation and spatial learning and memory in FXS mice, we investigated whether bryostatin-1 might affect the autistic phenotypes and other behaviors, including open field activity, activities of daily living (nesting and marble burying), at the effective therapeutic dose for spatial memory deficits. Further evaluation included other non-spatial learning and memory tasks. Interestingly, a short period of treatment (5 weeks) only produced very limited or no therapeutic effects on the autistic and cognitive phenotypes in the Fmr1 KO2 mice, while a longer treatment (13 weeks) with the same dose of bryostatin-1 effectively rescued the autistic and non-spatial learning deficit cognitive phenotypes. It is possible that longer-term treatment would result in further improvement in these fragile X phenotypes. This effect is clearly different from other treatment strategies tested to date, in that the drug shows little acute effect, but strong long-term effects. It also shows no evidence of tolerance, which has been a problem with other drug classes (mGluR5 antagonists, GABA-A and -B agonists). The results strongly suggest that, at appropriate dosing and therapeutic period, chronic bryostatin-1 may have great therapeutic value for both ASD and FXS.
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6. Franich K, Wong HY, Yu ACL, To CKS. {{Temporal Coordination and Prosodic Structure in Autism Spectrum Disorder: Timing Across Speech and Non-speech Motor Domains}}. {J Autism Dev Disord}. 2020.
Individuals with autism spectrum disorder (ASD) often exhibit disordered speech prosody, but sources of disordered prosody remain poorly understood. We explored patterns of temporal alignment and prosodic grouping in a speech-based metronome repetition task as well as manual coordination in a drum tapping task among Cantonese speakers with ASD and normal nonverbal IQ and matched controls. Results indicate similar group results for prosodic grouping patterns, but significant differences in relative timing and longer syllable durations at phrase ends for the ASD group. Variability on the speech task was significantly correlated with variability on the drumming task, consistent with the view that impairment in both speech and non-speech motor domains can be linked with deficits in temporal processing.
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7. Heinze K, Barron HC, Howes EK, Ramaswami M, Broome MR. {{Impaired inhibitory processing: a new therapeutic target for autism and psychosis?}}. {The British journal of psychiatry : the journal of mental science}. 2020: 1-4.
In the healthy brain, homeostatic balance between excitation and inhibition maintains neural stability. Reduced inhibition may explain shared symptoms observed in autism and psychosis. Here we review evidence suggesting that altered levels of gamma-aminobutyric acid (GABA) may underlie both disorders, providing a potential cross-diagnostic therapeutic target.
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8. Hudry K, Chetcuti L, Boutrus M, Pillar S, Baker EK, Dimov S, Barbaro J, Green J, Whitehouse AJ, Varcin KJ. {{Performance of the Autism Observation Scale for Infants with community-ascertained infants showing early signs of autism}}. {Autism}. 2020: 1362361320965397.
We investigated whether a commonly used research assessment – the Autism Observation Scale for Infants (AOSI) – accurately measures autism behaviours among infants showing early signs of autism identified within the community. The AOSI is often included in studies tracking the development of infants at increased likelihood of autism, such as the infant siblings of diagnosed children. However, the suitability of this measure has not previously been tested with community-referred infants. We administered the AOSI with infants when aged 9 to 14 months and again 6 months later. Our researchers – independent of the AOSI development team and newly trained on this measure – were able to administer the brief interactive assessment and score it accurately. The infants’ AOSI scores were linked to their scores on other established and validated clinical assessments, particularly at the second visit when average age was 18 months. Stronger correspondence of AOSI and other scores at this second visit suggests early autism behaviours are better established and more consistent by 18 months of age, even though these infants showed clear enough signs of possible autism to prompt referral to our study around 12 months of age. However, the moderate association of AOSI scores over time suggests that, like infant siblings – who mostly do not develop autism – community-identified infants showing early signs may also have variable developmental pathways in early life.
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9. Kheirouri S, Alizadeh M. {{Maternal excessive gestational weight gain as a risk factor for autism spectrum disorder in offspring: a systematic review}}. {BMC pregnancy and childbirth}. 2020; 20(1): 645.
BACKGROUND: Abnormal gestational weight gain (GWG) is a prenatal complication that may contribute to long-term behavioral and neurodevelopmental differences in offspring. This systematic review summarizes research on the association between maternal GWG and risk of autism spectrum disorder (ASD) in offspring. METHODS: Google and electronic databases, including PubMed, SCOPUS, Embase, Cochrane Library and Google Scholar, were searched for original human studies published in English through June 2020. Articles that examined the association between GWG and risk of ASD in offspring were included. Duplicate and irrelevant studies were removed; and data were obtained through critical analysis. RESULTS: Of 96 articles searched, eight studies were included in the final review. All studies (n = 7) investigating the association of maternal excessive GWG with risk of ASD in offspring indicated that high GWG was independently associated with an increased risk of ASD. Of five studies investigating the association of inadequate GWG with the risk of ASD, four indicated that low GWG was not associated with an increased risk of ASD. Of seven studies examining the association of maternal pre-pregnancy BMI or weight with the risk of ASD, five reported that maternal pre-pregnancy BMI or weight did not appear to be independently associated with risk of ASD. The GWG-ASD association is independent of maternal BMI and child’s intellectual disability, but offspring’s genetic susceptibility connection to the GWG-ASD association remains a topic of debate. CONCLUSIONS: The findings suggest that maternal excessive GWG may be associated with increased risk of ASD in offspring. However, insufficient GWG does not appear to have such association.
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10. Thomas HR, Rooney T, Cohen M, Bishop SL, Lord C, Kim SH. {{Spontaneous Expressive Language Profiles in a Clinically Ascertained Sample of Children With Autism Spectrum Disorder}}. {Autism Res}. 2020.
Children with autism spectrum disorder (ASD) have varying degrees of language impairment across multiple domains, which may include deficits in syntactic, pragmatic, and/or semantic skills. The heterogeneity of language profiles within ASD, coupled with the limited scope of existing standardized language measures, makes a comprehensive assessment of language impairments in ASD challenging. The Observation of Spontaneous Expressive Language (OSEL) is a new measure developed to capture children’s spontaneous use of language in a naturalistic setting. The current study used the OSEL to examine the patterns of spontaneous expressive language abilities of 87 clinically ascertained children with ASD from 2 to 12 years. As expected, children with ASD were significantly more impaired in their spontaneous use of language compared to typically developing peers. Syntax and narrative skills continued to increase with age from toddler to elementary school years in cross-sectional comparisons. Pragmatic skills improved form toddler to preschool years but remained stable from preschool to elementary school years. Preliminary data also demonstrated significant improvements in OSEL syntax scores over time for a subset of children followed longitudinally (n = 8). Children with ASD consistently showed more impairments in spontaneous expressive language captured on the OSEL compared to language skills measured by other more structured standardized assessments, despite moderate convergent validity among those measures. Results suggest that impairments in the spontaneous and functional use of expressive language persist into middle childhood for many children with ASD, and a comprehensive assessment approach can lead to more precisely targeted treatment addressing specific language profiles. LAY SUMMARY: This study aimed to examine the variable language profiles in children with ASD. Children with ASD were shown to have impairments in the structure, meaning, and social use of language. These challenges were captured best by a measure that was created to assess the spontaneous use of language in a naturalistic environment. The results of this study emphasize the importance of a comprehensive assessment of language in ASD to inform treatment.
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11. Wiklund M, Laakso M. {{Comparison of Disfluent and Ungrammatical Speech of Preadolescents with and without ASD}}. {J Autism Dev Disord}. 2020.
This paper analyses disfluencies and ungrammatical expressions in the speech of 11-13-year-old Finnish-speaking boys with ASD (N = 5) and with neurotypical development (N = 6). The ASD data were from authentic group therapy sessions and neurotypical data from teacher-led group discussions. The proportion of disfluencies and ungrammatical expressions was greater in the speech of participants with ASD (26.4%) than in the control group (15.5%). Furthermore, a qualitative difference was noted: The ASD group produced long, complex disfluent turns with word searches, self-repairs, false starts, fillers, prolongations, inconsistent syntactic structures and grammatical errors, whereas in the control group, the disfluencies were mainly fillers and sound prolongations. The disfluencies and ungrammatical expressions occurring in the ASD participants’ interactions also caused comprehension problems.
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12. Yıldız Y, Göçmen R, Yaramış A, Coşkun T, Haliloğlu G. {{Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder}}. {Pediatrics}. 2020.
Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis. In this article, we present a 6-year-old boy who presented to us with ASD and was diagnosed with creatine transporter deficiency. Physical and neurologic examination of this patient had not previously raised suspicion of IEM, but twin pregnancy, prematurity, NICU stay due to necrotizing enterocolitis, transient infantile hypotonia, gross-motor delay, breath-holding spells, and a single febrile seizure complicated the history. MRI revealed mild T2-hyperintensity in posterior periventricular white matter. Further evaluation with magnetic resonance spectroscopy, which showed a decreased creatine peak, led to diagnostic investigations for disorders of creatine metabolism, revealing increased urinary creatine:creatinine ratio and a de novo, novel hemizygous frameshift variant in SLC6A8 Clinicians are advised to maintain a high index of suspicion for IEM and to evaluate patients with ASD for syndromic features. Although current guidelines from relevant organizations differ in their recommendations regarding the necessity and the extent of metabolic screening in ASD, there is a growing trend toward screening for treatable IEM. In this case report, we present challenges and pitfalls in the diagnostic journey for creatine transporter deficiency and underline the significance of a thorough history and physical examination in the evaluation of a child with ASD.
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13. Yoder P, Rogers S, Estes A, Warren Z, Munson J, Hellemann G, McEachin J. {{Interaction of Treatment Intensity and Autism Severity on Frequency and Maturity of Spontaneous Communication in Toddlers with Autism Spectrum Disorder}}. {Autism Res}. 2020.
This study tested whether the effect of treatment intensity or treatment style on children’s frequency and maturity of spontaneous communication varied by initial severity of disability. Eighty-seven toddlers with autism spectrum disorders were randomly assigned to either (a) 15 hrs per week of discrete trial teaching (DTT), (b) 25 hrs per week of DTT, (c) 15 hrs per week of a naturalistic developmental behavioral intervention (NDBI), or (d) 25 hrs per week of NDBI. Trained research staff implemented the 1:1 treatments in homes or educational centers over 12 months. We quantified the frequency and maturity of spontaneous communication during monthly 6-min communication samples. We quantified disability severity at Time 1 using the developmental quotient from the Mullen Scales of Early Learning and the total calibrated severity score from the Autism Diagnostic Observation Schedule-second edition. Higher levels of treatment intensity (i.e., more hours per week) benefited frequency and maturity of spontaneous communication growth rate only in children with relatively mild autism symptoms. Other results were nonsignificant. LAY SUMMARY: Eighty-seven toddlers with autism spectrum disorders were randomly assigned to 15 hrs per week of discrete trial teaching (DTT), 25 hrs per week of DTT, 15 hrs per week of a naturalistic developmental behavioral intervention (NDBI), or 25 hrs per week of NDBI. Trained research staff implemented the treatments in homes or educational centers over 12 months. More hours of treatment per week benefited frequency and maturity of spontaneous communication growth rate only in children with relatively mild autism symptoms. Other results were nonsignificant.
