Pubmed du 14/09/19

samedi 14 septembre 2019

1. Alkhalifah S, Aldhalaan H. Telehealth Services for Children With Autism Spectrum Disorders in Rural Areas of the Kingdom of Saudi Arabia : Overview and Recommendations. JMIR Pediatr Parent ;2018 (Nov 15) ;1(2):e11402.

Autism spectrum disorders (ASD) are the most-prevalent neurodevelopmental disorders. However, each child diagnosed with ASD presents with a unique range of behavioral and communication problems and issues with social skills. Many studies have highlighted the importance of early interventions for children with ASD to improve their skills and provide their families with the necessary support. However, in the Kingdom of Saudi Arabia (KSA), the earliest that a child with ASD in the major cities receives an intervention is at the age of 4 years, owing to limited services and a lack of awareness of the importance and benefits of early interventions. Families who live in rural areas of KSA arguably have a greater need for these services, as they have to travel to cities such as Riyadh for help. The use of telehealth services may be effective for ASD intervention among children living in rural areas, since such services use technology to provide consultations, interventions, diagnosis, training, and education. Research indicates that telehealth services are as valuable as traditional face-to-face treatment, allow families to obtain support from their homes, and help them improve their quality of life. This review will discuss the application of telehealth services to support families in rural areas of KSA who are dealing with issues of ASD, considering the cultural and religious contexts. In addition, it will examine ways in which technology can be employed to suit KSA’s culture and needs.

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2. Biag HMB, Potter LA, Wilkins V, Afzal S, Rosvall A, Salcedo-Arellano MJ, Rajaratnam A, Manzano-Nunez R, Schneider A, Tassone F, Rivera SM, Hagerman RJ. Metformin treatment in young children with fragile X syndrome. Mol Genet Genomic Med ;2019 (Sep 14):e956.

BACKGROUND : Metformin is a drug commonly used in individuals with type 2 diabetes, obesity, and impaired glucose tolerance. It has a strong safety profile in both children and adults. Studies utilizing the Drosophila model and knock out mouse model of fragile X syndrome (FXS) have found metformin to rescue memory, social novelty deficits, and neuroanatomical abnormalities. These studies provided preliminary evidence that metformin could be used as a targeted treatment for the cognitive and behavioral problems associated with FXS. Previously, a case series of children and adults with FXS treated with metformin demonstrated improvements in irritability, social responsiveness, language, and hyperactivity. METHODS : Here, we present nine children with FXS between 2 and 7 years of age who were treated clinically with metformin and monitored for behavioral and metabolic changes. RESULTS : Parent reports and developmental testing before and after metformin are presented. There were improvements in language development and behavior (such as lethargy and stereotypy) in most of the patients. CONCLUSION : These results support the need for a controlled trial of metformin in children with FXS under 7 years old whose brains are in a critical developmental window and thus may experience a greater degree of clinical benefit from metformin.

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3. Bibbo G, Kirkwood I, Sigalas V, Benger T. Radioiodine ((131)I) therapy in a child with autism spectrum disorder : A complex and demanding task. World J Nucl Med ;2019 (Jul-Sep) ;18(3):293-295.

In January 2017, an 11.5-year-old male child with autism was referred for radioiodine (RAI) therapy post total thyroidectomy for papillary thyroid carcinoma. The treatment required swallowing a RAI capsule and remaining isolated (48-72 h). Initially, obstacles to a successful treatment seemed insurmountable as he had complex needs and behavioral issues due to his autism, mild intellectual disability, and family environment. His mother was adamant that he would not be able to swallow the capsule and comply with the required isolation period. A multidisciplinary team was formed to explore options for successful treatment. Each option considered had its own risks and challenges. Behavioral therapy was considered to be the only possible option. It was pursued with regular, frequent contact between the child, his parents, and members of the team for counseling and behavioral modification, familiarization of the child with the staff, procedures, trial visits, and admission. The patient was successfully treated in October 2017.

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4. Burghoorn F, Dingemanse M, van Lier R, van Leeuwen TM. The Relation Between Autistic Traits, the Degree of Synaesthesia, and Local/Global Visual Perception. J Autism Dev Disord ;2019 (Sep 14)

Synaesthesia is highly prevalent in autism spectrum disorder. We assessed the relation between the degree of autistic traits (Autism Spectrum Quotient, AQ) and the degree of synaesthesia in a neurotypical population, and hypothesized both are related to a local bias in visual perception. A positive correlation between total AQ scores and the degree of synaesthesia was found, extending previous studies in clinical populations. Consistent with our hypothesis, AQ-attention to detail scores were related to increased performance on an Embedded Figures Task and reduced susceptibility to visual illusions. We found no relation between autistic traits and performance on a motion coherence task, and no relation between synaesthesia and local visual perception. Possibly, this relation is reserved for supra-threshold synaesthetes.

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5. Datta G, Durbin K, Odell A, Ramirez-Inscoe J, Twomey T. An analysis of the five year outcomes of a cohort of 46 deaf children with severe (SLD) or profound and multiple learning difficulties (PMLD) and associated complex needs, including autism (ASD), tracked using the Nottingham Early Cognitive and Listening Links (Early CaLL) : This framework monitors the relationship between sound processor use and listening, spoken language, cognition and communicative development, following cochlear implantation. Cochlear Implants Int ;2019 (Sep 12):1-11.

Objectives : In 2018, routine data of the five year outcomes from a cohort of 46 children, (18 PMLD and 28 SLD, including nine SLD children with an additional diagnosis of ASD), was analysed to investigate the type and amount of benefit provided by cochlear implantation and to examine any differences in outcome patterns across the populations. Methods : The level of functional sound processor use achieved over time was reviewed in relation to listening and spoken language outcomes, alongside social engagement, communicative and cognitive development. The extent to which children were able to close the gap between their overall development and their listening abilities was quantified. The outcomes of the children with an additional diagnosis of ASD, was compared to those of the SLD population as a whole. Results : Although equipment management presented long term challenges, after five years, 80% of children were able to attach some meaning to sound. Children with SLD acquired more auditory skills and spoken language than those with PMLD. Most of the children used a mix of augmentative and alternative communication approaches (AAC), with 7%, all SLD children, acquiring some simple spoken language. An additional diagnosis of ASD had a negative effect on outcomes. Discussion : For 80% of the patients, the provision of cochlear implants provided benefits, although changes were slow to develop and required high levels of adult persistence. Conclusion : Outcomes measures which are population specific and acknowledge challenges, alongside providing ways to recognise individual achievements, by matching them against individual capacity, are of great value to families and practitioners.

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6. Davis KS, Kennedy SA, Dallavecchia A, Skolasky RL, Gordon B. Psychoeducational Interventions for Adults With Level 3 Autism Spectrum Disorder : A 50-Year Systematic Review. Cogn Behav Neurol ;2019 (Sep) ;32(3):139-163.

There is face validity to the expectation that adults with level 3 autism spectrum disorder (ASD-3) will benefit from a range of psychoeducational interventions. This paper reviews the empirical evidence supporting the effectiveness of these interventions, many of which are currently used in clinical settings. We reviewed 56 peer-reviewed studies of psychoeducational interventions for adults with ASD-3, written in English and since 1968, that met our criteria. The reviewing team included educators, clinicians, researchers, and a biostatistician. The available literature was limited, and most, if not all, of the studies presented some significant methodological limitations. When using Cochrane’s criteria to assess seven key outcome domains-activities of daily living, aggressive/destructive behaviors, emotional functioning, language/communication skills, self-injurious behaviors, stereotypy/mannerisms, and vocational skills-we found only moderately reliable evidence to support the effectiveness of interventions designed to improve emotional functioning in adults with ASD-3. The reliability of evidence relevant to the six other outcome domains was rated as low or very low. Based on this review, we suggest directions for future study of interventions for adults with ASD-3, including topics, subpopulations, and approaches that should be explored. We also propose some crucial changes in how future studies regarding this population should be designed, analyzed, and documented, while balancing clinical considerations with scientific/educational utility.

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7. Falougy HE, Filova B, Ostatnikova D, Bacova Z, Bakos J. Neuronal morphology alterations in autism and possible role of oxytocin. Endocr Regul ;2019 (Jan 1) ;53(1):46-54.

Current understanding of the neuroanatomical abnormalities in autism includes gross anatomical changes in several brain areas and microstructural alterations in neuronal cells as well. There are many controversies in the interpretation of the imaging data, evaluation of volume and size of particular brain areas, and their functional translation into a broad autism phenotype. Critical questions of neuronal pathology in autism include the concept of the reversible plasticity of morphological changes, volume alterations of brain areas, and both short- and long-term consequences of adverse events present during the brain development. At the cellular level, remodeling of the actin cytoskeleton is considered as one of the critical factors associated with the autism spectrum disorders. Alterations in the composition of the neuronal cytoskeleton, in particular abnormalities in the polymerization of actin filaments and their associated proteins underlie the functional consequences in behavior resulting in symptoms and clinical correlates of autism spectrum disorder. In the present review, a special attention is devoted to the role of oxytocin in experimental models of neurodevelopmental disorders manifesting alterations in neuronal morphology.

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8. Jagtap S, Thanos JM, Fu T, Wang J, Lalonde J, Dial TO, Feiglin A, Chen J, Kohane I, Lee JT, Sheridan SD, Perlis RH. Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett Syndrome. Hum Mol Genet ;2019 (Sep 13)

The X-linked neurodevelopmental diseases CDKL5 deficiency disorder (CDD) and Rett syndrome (RTT) are associated with intellectual disability, infantile spasms, and seizures. Although mitochondrial dysfunction has been suggested in RTT, less is understood about mitochondrial function in CDD. A comparison of bioenergetics and mitochondrial function between isogenic wild type and mutant neural progenitor (NPC) lines revealed increased oxygen consumption in CDD mutant lines, which is associated with altered mitochondrial function and structure. Transcriptomic analysis revealed differential expression of genes related to mitochondrial and REDOX function in NPCs expressing the mutant CDKL5. Furthermore, a similar increase in oxygen consumption specific to RTT-patient-derived isogenic mutant NPCs was observed, though the pattern of mitochondrial functional alterations was distinct from CDKL5-mutant-expressing NPCs. We propose that aberrant neural bioenergetics is a common feature between CDD and RTT disorders. The observed changes in oxidative stress and mitochondrial function may facilitate the development of therapeutic agents for CDD and related disorders.

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9. Manzouri L, Yousefian S, Keshtkari A, Hashemi N. Advanced Parental Age and Risk of Positive Autism Spectrum Disorders Screening. Int J Prev Med ;2019 ;10:135.

Background : Autism Spectrum Disorder (ASD) is a life -long neurodevelopmental disorder and significantly influences the quality of life in children. The screening of ASD in children aged between 16-30 months to early detection and early intervention for better prognosis. Methods : This cross-sectional study was conducted in the southwest of Iran (Yasuj) with dominant Lore ethnicity in 2017. A total of 1504 mother- child pairs with children aged between 16-30 months were selected through simple random sampling from the integrated national health system as the framework. ASD screening was implemented using the Modified checklist for autism in toddlers- revised, with follow-up interview (M-CHAT-R/F). Demographic data such as sex of children, and parental age at their time of pregnancy were collected for all children. Results : Risk of ASD was low, moderate and high in 1447 (96.2%), 54 (3.6%) and 3 (0.2%) in screening, respectively. The estimated rate of ASD prevalence was 80 per 10000 (12 out of 1504) or 1 in 125. Mother’s age >/=35 (P value = 0.002, OR = 11.65, CI95% : 2.49-54.35) and father’s age >/=40 (P value = 0.0001, OR = 19.64, CI95% : 4.89-78.82) were predicting factors of ASD in toddlers aged 16-30 months. Conclusions : Given that, increasing the age of marriage in Iran and recent trend towards delayed childbearing ; children born to older parents are at a higher risk for having ASD. So, increasing the public awareness is necessary.

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10. Monteiro SA, Dempsey J, Berry LN, Voigt RG, Goin-Kochel RP. Screening and Referral Practices for Autism Spectrum Disorder in Primary Pediatric Care. Pediatrics ;2019 (Sep 12)

OBJECTIVES : To examine screening practices for autism spectrum disorder (ASD), subsequent referrals, and diagnostic outcomes within a large network of primary pediatric care practices. METHODS : Rates of ASD screening with the Modified Checklist for Autism in Toddlers (M-CHAT) at 18- and 24-month well-child visits were examined among 290 primary care providers within 54 pediatric practices between June 2014 and June 2016. Demographic, referral, and diagnostic data were abstracted from the medical records for all children who failed the M-CHAT (ie, score of >/=3) at either or both visits. RESULTS : Rates of M-CHAT screening were 93% at 18 months and 82% at 24 months. Among 23 514 screens, scores of 648 (3%) were >/=3 (386 at 18 months, 262 at 24 months) among 530 unique children who failed 1 or both screenings. Among screen-failed cases, 18% received a diagnosis of ASD and 59% received >/=1 non-ASD neurodevelopmental disorder diagnosis within the follow-up period. Only 31% of children were referred to a specialist for additional evaluation. CONCLUSIONS : High rates of ASD-specific screening do not necessarily translate to increases in subsequent referrals for ASD evaluation or ASD diagnoses. Low rates of referrals and/or lack of follow-through on referrals appear to contribute to delays in children’s receipt of ASD diagnoses. Additional education of primary care providers regarding the referral process after a failed ASD screening is warranted.

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11. Murakami Y, Imamura Y, Saito K, Sakai D, Motyama J. Altered kynurenine pathway metabolites in a mouse model of human attention-deficit hyperactivity/autism spectrum disorders : A potential new biological diagnostic marker. Sci Rep ;2019 (Sep 12) ;9(1):13182.

Deleterious mutations in patchd1 domain containing 1 (PTCHD1) gene have been identified in patients with intellectual disability and/or autism spectrum disorder (ASD). To clarify the causal relationship between Ptchd1 deficiency and behavioral defects relevant to neurodevelopmental disorders, we generated global Ptchd1 knockout (KO) mice. Ptchd1 KO mice displayed hyperlocomotion, increased impulsivity, and lower recognition memory, which resemble attention-deficit hyperactivity disorder (ADHD)-like behaviors. Acute or chronic treatment with atomoxetine ameliorated almost all behavioral deficits in Pthcd1 KO mice. We next determined possible involvement of the kynurenine pathway (KP) metabolites in neurodevelopmental disorders in Ptchd1 KO mice and assessed the potential of KP metabolites as biomarkers for ADHD and/or ASD. Ptchd1 KO mice showed drastic changes in KP metabolite concentrations in the serum and the brain, indicating that the activated KP is associated with ADHD-like behaviors. Our findings indicate that Ptchd1 KO mice can be used as an animal model of human ADHD and/or ASD, and KP metabolites are potential diagnostic biomarkers for neurodevelopmental disorders.

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12. Oien RA, Cicchetti DV, Nordahl-Hansen A, Schjolberg S. A Commentary to "Toddler Screening for Autism Spectrum Disorder : A Meta-Analysis of Diagnostic Accuracy". J Autism Dev Disord ;2019 (Sep 14)

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13. Park J, Bouck EC, Smith JP, 3rd. Using a Virtual Manipulative Intervention Package to Support Maintenance in Teaching Subtraction with Regrouping to Students with Developmental Disabilities. J Autism Dev Disord ;2019 (Sep 14)

To live independently, it is critical that students with disabilities maintain the basic mathematical skills they have acquired so they may apply these skills in daily life. To support maintenance of mathematical skills among students with developmental disabilities, the researchers used a multiple probe across participants design to examine the effectiveness of the VRA instructional sequence with fading support in teaching subtraction with regrouping to four students with developmental disabilities. A functional relation was found between the VRA instructional sequence with fading support and students’ accuracy in solving the problems. Students also maintained the skill up to 6 weeks after the intervention.

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14. Rhodus EK, Barber J, Abner EL, Duff DMC, Bardach SH, Caban-Holt A, Lightner D, Rowles GD, Schmitt FA, Jicha GA. Behaviors Characteristic of Autism Spectrum Disorder in a Geriatric Cohort With Mild Cognitive Impairment or Early Dementia. Alzheimer Dis Assoc Disord ;2019 (Sep 11)

INTRODUCTION : Autism spectrum disorder (ASD) represents a heterogenous cluster of clinical phenotypes that are classically diagnosed by the time of adolescence. The possibility of late-life emergence of ASD has been poorly explored. METHODS : To more fully characterize the possibility of late-life emergence of behaviors characteristic of ASD in mild cognitive impairment and AD, we surveyed caregivers of 142 older persons with cognitive impairment from the University of Kentucky Alzheimer’s Disease Center Longitudinal Cohort using the Gilliam Autism Rating Scale-2. RESULTS : Participants with high autism index ratings (autism "possible/very likely," n=23) reported significantly (statistically and clinically) younger age at the onset of cognitive impairment than those who scored in the autism "unlikely" range (n=119) : 71.14+/-10.9 vs. 76.65+/-8.25 (P=0.034). In addition, those in the autism "possible/very likely" group demonstrated advanced severity of cognitive impairment, indicated by the Clinical Dementia Rating Scale Sum of Boxes scores. DISCUSSION : Data demonstrate that ASD behaviors may seem de novo of degenerative dementia and such behaviors are more prevalent in those with early onset dementia. Further work elucidating a connection between ASD and dementia could shed light on subclinical forms of ASD, identify areas of shared neuroanatomic involvement between ASD and dementias, and provide valuable insights that might hasten the development of therapeutic strategies.

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15. Shi H, Wang J, Zhao Z. [Analysis of inborn error metabolism in 277 children with autism spectrum disorders from Hainan]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2019 (Sep 10) ;36(9):870-873.

OBJECTIVE : To assess the value of dry blood spot tandem mass spectrometry for the diagnosis of autism spectrum disorder (ASD). METHODS : Peripheral blood samples of 277 autistic children were collected. Their amino acid and carnitine profiles were detected by liquid chromatography tandem mass spectrometry. Urine samples of suspected patients were collected for verification by gas chromatography mass spectrometry. Blood samples were also taken for genetic testing. RESULTS : Of the 277 children with ASD, 19 (6.9%) were suspected to be with inborn error of metabolism (IEM), which included 6 cases with amino acidemia, 9 with organic acidemia and 4 with fatty acidemia. Three cases of phenylketonuria, one case of homocysteinemia, one case of propionemia, one case of methylmalonic acidemia, one case of glutaric acidemia, one case of isovaleric acidemia, one case of argininemia, one case of citrullinemia I and four cases of primary carnitine deficiency were confirmed by genetic testing, which yielded an overall diagnostic rate of 5.1% (14/277). CONCLUSION : Our result has provided further evidence for the co-occurrence of ASD and IEM. Tandem mass spectrometry has a great value for the diagnosis and treatment of ASD in childhood.

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16. Stewart GR, Wallace GL, Cottam M, Charlton RA. Theory of mind performance in younger and older adults with elevated autistic traits. Autism Res ;2019 (Sep 14)

Little is known about the impact of aging with Autism Spectrum Disorder on theory of mind (ToM). While ToM difficulties appear to abate with age in older autistic populations, this has yet to be explored in the Broad Autism Phenotype (BAP). The current study examined ToM performance among younger (n = 49, aged 18-46) and older adults (n = 47, aged 60-91) who were classified as on the BAP (younger n = 18 ; older n = 21) or not (younger n = 31 ; older n = 26) using the BAP Questionnaire. ToM was assessed using the ecologically valid Strange Stories Film Task (SSFT) and the dynamic Happe-Frith Triangle Animations task (TA). A 2 x 2 analysis of variance examined the effects of autistic traits (BAP vs. non-BAP) and age (young vs. old). For both SSFT and TA, results showed autistic trait main effects on task performance (non-BAP > BAP). Age main effects were observed for some but not all metrics on TA (younger better than older), with no differences in SSFT. An interaction of autistic traits and age was observed in TA Intentionality, with younger non-BAP and younger BAP performing similarly but older non-BAP performing better than older BAP. Results show that younger and older adults with elevated autistic traits show poorer ToM performance. Despite ToM difficulties being common in later life in the general population, this effect was not observed when using a ToM task designed to reflect real-world scenarios. However, results suggest that autistic traits and age could interact to increase risk for poor ToM performance in older adults who endorse elevated autistic traits. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : The behaviors and characteristics commonly found in autism spectrum disorders have been linked to differences in understanding social situations. Similar difficulties have also been found in older age. We assessed social understanding in younger and older adults from the general population. Both younger and older adults who report more autism-like characteristics experience more difficulties with social understanding. However, few differences were found between younger and older adults.

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17. Zhou S, Song B, Liu N, Tan S, Yang Y, Zhang X, Luo H. [Analysis of NRXN1 gene deletion in an autistic patient]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2019 (Sep 10) ;36(9):935-937.

OBJECTIVE : To explore the genetic basis for a patient with autism. METHODS : High-throughput sequencing was carried out to detect copy number variations in the patient. RESULTS : DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. CONCLUSION : Partial deletion of the NRXN1 gene may underlie the disease in this patient.

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