1. Alnemary FM, Aldhalaan HM, Simon-Cereijido G. {{Services for children with autism in the Kingdom of Saudi Arabia}}. {Autism}. 2017; 21(5): 592-602.
Little information is available about autism spectrum disorder services in the Kingdom of Saudi Arabia. A sample of 205 parents completed an online survey about the use of autism spectrum disorder services for their children. The results revealed that on average, children began services by 3.3 years. Most parents reported utilizing non-medical treatments followed by biomedical treatments and cultural and religious treatment. The age at the initiation of services and the type of treatments used differed by parent’s income, educational attainment, the extent of knowledge about autism spectrum disorders, and geographic location. Some child characteristics also influenced the use of services. The disparities in service utilization in Saudi Arabia point to the need to develop policy and interventions that can mitigate the paucity of services for children with autism spectrum disorders. More research is needed to better understand service use and the decision-making processes that underlie treatment selection by parents of children with autism spectrum disorders in the Kingdom of Saudi Arabia.
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2. Chu CL, Chiang CH, Wu CC, Hou YM, Liu JH. {{Service system and cognitive outcomes for young children with autism spectrum disorders in a rural area of Taiwan}}. {Autism}. 2017; 21(5): 581-91.
Chiayi is a rural county located in southwestern Taiwan, and the effectiveness of its early intervention service system for autism spectrum disorders was studied in detail. A total of 71 children with autism spectrum disorders ( n = 35) and developmental delay ( n = 36) aged 2.5 years were referred from the only Early Intervention Reporting and Referral Center in Chiayi and followed up at 4 years. Results showed relatively low and varied services of early intervention for both groups during two time-point periods and a relative lack of specific early intervention programs for children with autism spectrum disorders. It was found, however, that cognitive abilities were increased for autism spectrum disorders and developmental delay groups. Additionally, the Early Learning Score at the initial evaluation could contribute to the high learner autism spectrum disorders subgroup. Parental socio-economic level was also determined to benefit the high learner developmental delay subgroup.
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3. Durbin A, Brown HK, Bansal S, Antoniou T, Jung JKH, Lunsky Y. {{How HIV affects health and service use for adults with intellectual and developmental disabilities}}. {J Intellect Disabil Res}. 2017; 61(7): 682-96.
OBJECTIVE(S): Although rates of human immunodeficiency virus (HIV) are similar for individuals with and without intellectual and developmental disabilities (IDD), very little is known about the health needs and service use of those with IDD and HIV. Among a population with IDD, we compared the physical and mental health profiles, as well as general and mental health service use for those with and without HIV. DESIGN: Retrospective cohort study in Ontario, Canada using linked administrative health and social service databases. METHODS: The prevalence of physical conditions and mental health disorders, and patterns of service use for any reason and service use for mental health issues were compared among Ontario adults with IDD and HIV (n = 107) and without HIV (n = 63 901) in log-binomial models adjusted for age, sex and neighbourhood income and rurality. RESULTS: Adults with IDD and HIV were more likely than those without HIV to have three types of mental health disorders: non-psychotic disorders [aRR: adjusted rate ratio (aRR): 1.22 (95% confidence interval (CI): 1.01-1.47)], psychotic disorders [aRR: 1.57 (1.09, 2.28)] and substance use disorders [aRR: 3.52 (2.53, 4.91)]. Adults with IDD and HIV were also more likely to have emergency department visits [aRR: 1.68 (1.42, 1.98)] and hospital admissions [aRR: 2.55 (1.74, 3.73)] for any reason, and to have mental health emergency department visits and/or admissions [aRR: 2.82 (1.90, 4.18)]. DISCUSSION: Adults with IDD and HIV have complex health profiles and greater health service use than HIV-negative adults with IDD. These findings call for closer integration of programs delivered by the HIV and disability sectors to optimise the health of this patient population.
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4. Freedman EG, Foxe JJ. {{Eye-movements, sensori-motor adaptation and cerebellar-dependent learning in Autism: Towards potential biomarkers and sub-phenotypes}}. {Eur J Neurosci}. 2017.
Because of the wide range of symptoms expressed in individuals with Autism Spectrum Disorder (ASD) and their idiosyncratic severity it is unlikely that a single remedial approach will be universally effective. Resolution of this dilemma requires identifying subgroups within the autism spectrum, based on symptom set and severity, on an underlying neuro-structural difference, and on specific behavioral dysfunction. This will provide critical insight into the disorder and may lead to better diagnoses, and more targeted remediation in these subphenotypes of people with ASD. In this review we discuss findings that appear to link the structure of the cerebellar vermis and plasticity of the saccadic eye movement system in people with an Autism Spectrum Disorder (ASD). Differences in cerebellar vermis structure in ASD could critically impact visuo-sensori-motor development in early infancy, which may in turn manifest as the visual orienting, communication and social interaction differences often seen in this population. It may be possible to distinguish a subpopulation of children with vermal hypoplasia, to establish whether this group manifests more severe deficits in visual orienting and in adaptation to persistent visual errors, and to establish whether this putative subphenotype of ASD is associated with a specific and distinct clinical symptom profile. This article is protected by copyright. All rights reserved.
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5. Hsu CT, Neufeld J, Chakrabarti B. {{Reduced reward related neural response to mimicry in individuals with autism}}. {Eur J Neurosci}. 2017.
Mimicry is a facilitator of social bonds in humans, from infancy. This facilitation is made possible through changing the reward value of social stimuli, e.g. we like and affiliate more with people who mimic us. Autism Spectrum Disorders (ASD) are marked by difficulties in forming social bonds. In this study, we investigate whether the reward-related neural response to being mimicked is altered in individuals with ASD, using a simple conditioning paradigm. Multiple studies in humans and nonhuman primates have established a crucial role for the ventral striatal (VS) region in responding to rewards. In this study, adults with ASD and matched controls first underwent a conditioning task outside the scanner, where they were mimicked by one face and ‘anti-mimicked’ by another. In the second part, participants passively viewed the conditioned faces in a 3T MRI scanner using a multi-echo sequence. The differential neural response towards mimicking vs anti-mimicking faces in the VS was tested for group differences as well as an association with self-reported autistic traits. Multiple regression analysis revealed lower left VS response to mimicry [mimicking > anti-mimicking faces] in the ASD group compared to controls. The VS response to mimicry was negatively correlated with autistic traits across the whole sample. Our results suggest that for individuals with ASD and high autistic traits, being mimicked is associated with lower reward-related neural response. This result points to a potential mechanism underlying the difficulties reported by many of individuals with ASD in building social rapport. This article is protected by copyright. All rights reserved.
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6. Johnson J, Piercy FP. {{Exploring Partner Intimacy Among Couples Raising Children on the Autism Spectrum: A Grounded Theory Investigation}}. {J Marital Fam Ther}. 2017.
In this study, we explored how couples raising children with autism spectrum disorder negotiate intimacy, including what contextual and temporal factors influence these processes. We conducted conjoint interviews with 12 couples, employing grounded theory methodology to collect and analyze the data. Our results indicated that fostering intimacy in these couples’ relationships involves partners working together to make key cognitive and relational shifts. Couples are aided or hindered in making these shifts by the degree to which they experience various contextual and environmental factors as resources or roadblocks. We also found that intimacy is not a fixed point at which couples one day arrive, but is an iterative process taking place over time and requiring work to develop and maintain.
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7. McAninch DS, Heinaman AM, Lang CN, Moss KR, Bassell GJ, Rita Mihailescu M, Evans TL. {{Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5′-UTR}}. {Mol Biosyst}. 2017.
G quadruplex structures have been predicted by bioinformatics to form in the 5′- and 3′-untranslated regions (UTRs) of several thousand mature mRNAs and are believed to play a role in translation regulation. Elucidation of these roles has primarily been focused on the 3′-UTR, with limited focus on characterizing the G quadruplex structures and functions in the 5′-UTR. Investigation of the affinity and specificity of RNA binding proteins for 5′-UTR G quadruplexes and the resulting regulatory effects have also been limited. Among the mRNAs predicted to form a G quadruplex structure within the 5′-UTR is the survival motor neuron domain containing 1 (SMNDC1) mRNA, encoding a protein that is critical to the spliceosome. Additionally, this mRNA has been identified as a potential target of the fragile X mental retardation protein (FMRP), whose loss of expression leads to fragile X syndrome. FMRP is an RNA binding protein involved in translation regulation that has been shown to bind mRNA targets that form G quadruplex structures. In this study we have used biophysical methods to investigate G quadruplex formation in the 5′-UTR of SMNDC1 mRNA and analyzed its interactions with FMRP. Our results show that SMNDC1 mRNA 5′-UTR forms an intramolecular, parallel G quadruplex structure comprised of three G quartet planes, which is bound specifically by FMRP both in vitro and in mouse brain lysates. These findings suggest a model by which FMRP might regulate the translation of a subset of its mRNA targets by recognizing the G quadruplex structure present in their 5′-UTR, and affecting their accessibility by the protein synthesis machinery.
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8. Mila M, Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L. {{Fragile X syndrome: an overview and update of the FMR1 gene}}. {Clin Genet}. 2017.
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and the leading form of the monogenic cause of autism. FMR1 premutation is the first single-gene cause of primary ovarian failure (FXPOI) and one of the most common causes of ataxia (FXTAS), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described. Clinical involvement in men and women carrying the FMR1 premutation currently constitutes a real health problem in the society that should be taken into account. It is important to highlight that while in FXS there is a loss of function of the FMR1 gene, in premutation associated disorders there is a gain of FMR1 mRNA function. To date, the tremendous progress achieved in the understanding of the pathophysiology of FXS, has led to the development of several targeted therapies aimed at preventing or improving the neurological manifestations of the disease. This review is an update of the diseases associated with the FMR1 gene.
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9. Piwowarczyk A, Horvath A, Lukasik J, Pisula E, Szajewska H. {{Gluten- and casein-free diet and autism spectrum disorders in children: a systematic review}}. {Eur J Nutr}. 2017.
PURPOSE: Effective treatments for core symptoms of autism spectrum disorders (ASD) are lacking. We systematically updated evidence on the effectiveness of a gluten-free and casein-free (GFCF) diet as a treatment for ASD in children. METHODS: The Cochrane Library, MEDLINE, and EMBASE databases were searched up until August 2016, for randomized controlled trials (RCTs); additional references were obtained from reviewed articles. RESULTS: Six RCTs (214 participants) were included. With few exceptions, there were no statistically significant differences in autism spectrum disorder core symptoms between groups, as measured by standardized scales. One trial found that compared with the control group, in the GFCF diet group there were significant improvements in the scores for the ‘communication’ subdomain of the Autism Diagnostic Observation Schedule and for the ‘social interaction’ subdomain of the Gilliam Autism Rating Scale. Another trial found significant differences between groups in the post-intervention scores for the ‘autistic traits’, ‘communication’, and ‘social contact’ subdomains of a standardized Danish scheme. The remaining differences, if present, referred to parent-based assessment tools or other developmental/ASD-related features. No adverse events associated with a GFCF diet were reported. CONCLUSIONS: Overall, there is little evidence that a GFCF diet is beneficial for the symptoms of ASD in children.
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10. Rice CE, Lee LC. {{Expanding the global reach of research in autism}}. {Autism}. 2017; 21(5): 515-7.
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11. Swartz JS, Amos KE, Brindas M, Girling LG, Ruth Graham M. {{Benefits of an individualized perioperative plan for children with autism spectrum disorder}}. {Paediatr Anaesth}. 2017.
BACKGROUND: Perioperative care for children with autism spectrum disorder may be challenging. Previous investigators recommend development of an individualized perioperative management plan with caregiver involvement. AIM: The primary goal was to determine the usefulness of an individualized plan based on the decision to provide preoperative sedation stratified by autism spectrum severity level. Secondary goals were to assess the effectiveness of the plan based on subjective assessment of patient behavior at induction of anesthesia and caregiver satisfaction. METHODS: We developed an individualized plan for each child with autism spectrum disorder scheduled for anesthesia. Children were categorized by autism spectrum disorder severity level. With institutional ethics approval, we conducted a retrospective chart review to document need for preoperative sedation, sedation stratified by autism spectrum disorder severity level, behavior at induction, and caregiver satisfaction. RESULTS: Between 2012 and 2014, we successfully prepared a plan for 246 (98%) of 251 surgical or diagnostic procedures in 224 patients. Severity level was distributed as 45% Severity Level 1 and Asperger’s, 25% Severity Level 2, and 30% Severity Level 3. The majority (90%) of cases were scheduled as day surgery. Preoperative sedation increased with increasing severity level: Severity Level 1 (21%) or Asperger’s (31%), Severity Level 2 (44%), and Severity Level 3 (56%). The odds ratio for sedation use was 5.5 [CI: 2.6-11.5, P<.001] with Severity Level 3 vs Severity Level 1 patients. Cooperation at induction of anesthesia was 90% overall with preoperative sedation administered to 94 (38%) of the entire cohort. Cooperation was greatest in Severity Level 1 (98%) and Asperger's patients (93%) and somewhat less (85%) in patients in Severity Levels 2 and 3. The plan was helpful to guide sedation choices as cooperation did not differ between sedated and unsedated children at any severity level (overall chi2 =2.87 P=.09). Satisfaction among caregivers contacted was 98%. CONCLUSION: The results suggest that an individualized plan is helpful in the perioperative management of children with autism spectrum disorder and that knowledge of autism spectrum disorder severity level may be helpful in determining the need for preoperative sedation. Lien vers le texte intégral (Open Access ou abonnement)
12. Tint A, Palucka AM, Bradley E, Weiss JA, Lunsky Y. {{Correlates of Police Involvement Among Adolescents and Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
This study aimed to describe police interactions, satisfaction with police engagement, as well as examine correlates of police involvement among 284 adolescents and adults with autism spectrum disorder (ASD) followed over a 12- to 18-month period. Approximately 16% of individuals were reported to have some form of police involvement during the study period. Aggressive behaviors were the primary concern necessitating police involvement. Individuals with police involvement were more likely to be older, have a history of aggression, live outside the family home, and have parents with higher rates of caregiver strain and financial difficulty at baseline. Most parents reported being satisfied to very satisfied with their children’s police encounters. Areas for future research are discussed in relation to prevention planning.
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13. Yuge K, Hara M, Okabe R, Nakamura Y, Okamura H, Nagamitsu S, Yamashita Y, Orimoto K, Kojima M, Matsuishi T. {{Ghrelin improves dystonia and tremor in patients with Rett syndrome: A pilot study}}. {J Neurol Sci}. 2017; 377: 219-23.
BACKGROUND: Dystonia occurs in approximately 60% of patients with Rett syndrome (RTT) and severely impairs their quality of life. However, an effective standard therapy has not been established. In a previous study, ghrelin levels were significantly decreased in patients with RTT, in particular, among patients over 10years old. This prompted speculation that ghrelin may play an important role in RTT. OBJECTIVES: Four patients, including two adults, with severe dystonia and tremor, were recruited. METHODS: Ghrelin was intravenously administered at a dose of 3mug/kg, once-daily for 3days, followed by once every 3weeks. Objective evaluation was performed, including scoring for different clinical features (SDCF), the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Visual Analog Scale (VAS). RESULTS: The SDCF, BFMDRS, autonomic dysfunction and VAS scores were markedly improved in two patients with severe dystonia and head tremor. CONCLUSION: Ghrelin may improve extrapyramidal symptoms in patients with RTT.
