1. Baker-Ericzen MJ, Brookman-Frazee L, Brodkin ES. {{Accelerating research on treatment and services for transition age youth and adults on the autism spectrum}}. {Autism}. 2018; 22(1): 2-5.
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2. Burhop J, Gibson J, de Boer J, Heydarian C. {{Do You C What I C: Emergency Department Evaluation and Diagnosis of Pediatric Scurvy in an Autistic Child With a Restricted Diet}}. {Pediatric emergency care}. 2018.
Scurvy in modern times may not be as rare as previously thought. The link between adequate intake of vitamin C and scurvy has been known since ancient times and is recorded in Ebers Papyrus. Recent reports indicate that, with restricted diets, vitamin C deficiency is being seen in infants exclusively fed plant-based formula and children with oral aversion, autism, restricted diets, and cerebral palsy. Additional at-risk groups include the older adults and patients having alcoholism. Often costly, emergency department visits and elaborate diagnostic studies lead to fruitless results when a simple diet history is often overlooked. Here, we report a case of pediatric scurvy in an 11-year-old autistic child with a restricted diet who presented with refusal to walk, fatigue, a purpuric rash, and gingival bleeding. The diagnosis was made based on diet history, physical examination findings, and symptom resolution with vitamin C supplementation. Our case report reaffirms that vitamin C deficiency still occurs and should be considered in children with restrictive diets. Early recognition of this disease by physicians provides early diagnosis, avoids costly diagnostic workup and hospitalization, and expedites effective treatment.
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3. Cashin A. {{The Transition from University Completion to Employment for Students with Autism Spectrum Disorder}}. {Issues in mental health nursing}. 2018: 1-4.
A scoping review of articles published from 2000 to 2017 was conducted with the aim to identify what had been discussed and researched related to the transition from completion of university to employment for students with ASD. The review also included identification of published data on the type of degrees studied by university students with ASD. A paucity of discussion and no specific research was identified related to the aims of the review.
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4. Chen YN, Du HY, Shi ZY, He L, He YY, Wang D. {{Serum proteomic profiling for autism using magnetic bead-assisted matrix-assisted laser desorption ionization time-of-flight mass spectrometry: a pilot study}}. {World journal of pediatrics : WJP}. 2018.
BACKGROUND: The pathogenesis of autism spectrum disorders remains elusive and currently there are no diagnostic or predictive biomarkers in autism available. Proteomic profiling has been used in a wide range of neurodevelopmental disorder studies, which could produce deeper perceptions of the molecular bases behind certain disease and potentially becomes useful in discovering biomarkers in autism spectrum disorders. METHODS: Serum samples were collected from autistic children about 3 years old in age (n = 32) and healthy controls (n = 20) in similar age and gender. The samples were identified specific proteins that are differentially expressed by magnetic bead-based pre-fractionation and matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-ToF-MS). RESULTS: Eight protein peaks were significantly different in autistic children from the healthy controls (P < 0.0001). The two peaks with the most significant differences were 6428 and 7758 Da in size. CONCLUSION: According to differences in serum protein profiles between the autistic children and healthy controls, this study identified a set of differentially expressed proteins those are significant for further evaluation and might function as biomarkers in autism. Lien vers le texte intégral (Open Access ou abonnement)
5. Eggleston JD, Landers MR, Bates BT, Nagelhout E, Dufek JS. {{Examination of gait parameters during perturbed over-ground walking in children with autism spectrum disorder}}. {Res Dev Disabil}. 2018; 74: 50-6.
BACKGROUND: Many children with Autism Spectrum Disorder (ASD) are school-aged and typically carry a backpack. It is important to understand how this task affects walking. Weighted vests (WVs) often prescribed to mitigate behavioral effects of ASD. The effects of backpack and WV walking have not been examined in children with ASD. AIMS: To quantify differences in lower extremity mechanics in children with ASD during WV and backpack walking. METHODS: Eight male participants completed 15 trials in three conditions: body mass, and carrying or wearing a backpack or WV with 15% added body mass. Three-dimensional kinematic data were collected and normalized to 100% of the gait cycle. The Model Statistic was utilized to test for bilateral asymmetries between the lower extremity joints at all points along the gait cycle. RESULTS: Analysis revealed similar numbers of significant asymmetries in hip (71.0, 70.4, 60.6), knee (68.4, 71.5, 74.6), and ankle (64.1, 68.9, 68.4) for unloaded, backpack, and WV, respectively. CONCLUSION: Participants exhibited individualized kinematic symmetry-responses to the loaded conditions compared to the unloaded condition. These findings suggest that 15% body mass backpack or WV does not affect gait symmetry in children with ASD.
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6. Epperson MV, Haws ME, Standridge SM, Gilbert DL. {{An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A}}. {Journal of child neurology}. 2018; 33(4): 286-9.
BACKGROUND: Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome. Furthermore, she resembles the early seizure variant of Rett syndrome. Previously, 3 children with similar CACNA1A mutations have been reported, but a Rett syndrome phenotype has not been described. CONCLUSION: CACNA1A mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant.
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7. Handen BL, Mazefsky CA, Gabriels RL, Pedersen KA, Wallace M, Siegel M. {{Risk Factors for Self-injurious Behavior in an Inpatient Psychiatric Sample of Children with Autism Spectrum Disorder: A Naturalistic Observation Study}}. {J Autism Dev Disord}. 2018.
Limited information about self-injurious behavior (SIB) is known for children and adolescents with Autism Spectrum Disorder (ASD) who require intensive behavioral health interventions. We examined risk-factors for SIB in 302 individuals with ASD (ages 4-20) admitted to six specialized psychiatric inpatient units. Seventy-four percent were reported by a caregiver to display SIB, however, only 25% were observed to engage in daily SIB during hospitalization. Those exhibiting SIB across environments had significantly higher ratings on caregiver questionnaires of SIB severity. Tree-structured classification was used to develop and validate two predictive models, one indicating which inpatient youth with ASD are likely to have SIB and a second indicating which individuals with SIB at home are likely to continue in an inpatient setting.
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8. Hannant P, Cassidy S, Van de Weyer R, Mooncey S. {{Sensory and motor differences in Autism Spectrum Conditions and developmental coordination disorder in children: A cross-syndrome study}}. {Human movement science}. 2018; 58: 108-18.
Recent research has shown that Developmental coordination disorder (DCD) can present with some similar symptomology as Autism Spectrum Conditions (ASC). This paper therefore explored the similarities and differences in coordination and sensory responsivity between DCD and ASC. 77 children took part: 42 (35 male, 7 female) with ASC (ages 7-21: mean age 12.23years), 26 (19 male, 7 female) with DCD (ages 7-21; mean age 11.07years) and 9 (2 male, 7 female) with ASC and DCD (ages 8-15; mean age 12.27). All groups completed a battery of validated parent report measures online that included motor coordination (DCDQ), sensory responsivity (SPC-R) and social communication measures (AQ). Results showed no significant differences in coordination, and some significant differences in sensory responsivity between ASC and DCD (increased visual and auditory responsivity and decreased proprioception). Exploratory analysis showed that these differences showed good validity in identifying the diagnosis of ASC and DCD. These results elucidate the underlying causes of motor coordination difficulties in both conditions. Specifically, ASC coordination difficulties appear linked to visual processing impairments, whilst DCD coordination difficulties appear to be linked to spatial processing. This may aid better diagnosis and intervention for these conditions.
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9. Li SJ, Yu SS, Luo HY, Li X, Rao B, Wang Y, Li ZZ, Liu G, Zou LP, Zhang JS, Feng C, Liu J, Liu JW, Hu N, Chen XQ, Yu SY, Li K, He MW, Yu XG, Wang J, Guo SL, Chen ZY, Zhang L, Ma L. {{Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder}}. {Clin Chim Acta}. 2018; 479: 144-7.
Autism spectrum disorder (ASD) is a genetically heterogeneous neurodevelopmental disorder characterized by impairments in social interaction and communication, and by restricted and repetitive behaviors. The genetic architecture of ASD has been elucidated, including chromosomal rearrangements, de novo or inherited rare variants, and copy number variants. However, the genetic mechanism of Chinese families with ASD children is explored rarely. To identify genetic pathogenesis, we performed massively parallel sequencing on 13 Chinese ASD trio families, and found two de novo variations. The novel de novo splice alteration c.664+2T>G in the DEAF1 gene and the novel de novo missense mutation c.95 C>T in the AADAT gene associated with ASD may be important clues for exploring the etiology of this disorder.
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10. Morris SM, Gutmann DH. {{A genotype-phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1}}. {Neurology}. 2018; 90(8): 377-9.
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11. Na ES, De Jesus-Cortes H, Martinez-Rivera A, Kabir ZD, Wang J, Ramesh V, Onder Y, Rajadhyaksha AM, Monteggia LM, Pieper AA. {{Correction: D-cycloserine improves synaptic transmission in an animal mode of Rett syndrome}}. {PLoS One}. 2018; 13(1): e0192057.
[This corrects the article DOI: 10.1371/journal.pone.0183026.].
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12. Nakamura H, Uematsu M, Numata-Uematsu Y, Abe Y, Endo W, Kikuchi A, Takezawa Y, Funayama R, Shirota M, Nakayama K, Niihori T, Aoki Y, Haginoya K, Kure S. {{Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation}}. {Brain Dev}. 2018.
Numerous genetic syndromes that include intellectual disability (ID) have been reported. Recently, HECW2 mutations were detected in patients with ID and growth development disorders. Four de novo missense mutations have been reported. Here, we report a Japanese girl with Rett-like symptoms of severe ID, hypotonia, refractory epilepsy, and stereotypical hand movement (hand tapping, flapping, and wringing) after the age of 1year. Characteristically, she had cortical visual impairment. She had difficulty swallowing since the age of 4years, and diminished activity was noticeable since the age of 12years, suggesting neurodevelopmental regression. She has no acquired microcephaly, and brain magnetic resonance imaging showed non-specific mild cerebral and cerebellar atrophy without progression over time. Genetic analyses of MECP2, CDKL5, and FOXG1 were negative. Whole-exome sequencing analysis revealed a known de novo mutation (c.3988C>T) in HECW2. The characteristics of her clinical symptoms are severe cortical visual impairment and Rett-like phenotype such as involuntary movements and regression. This is the first report that patients with HECW2 mutation could show Rett-like feature.
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13. Nijhof AD, Dhar M, Goris J, Brass M, Wiersema JR. {{Atypical neural responding to hearing one’s own name in adults with ASD}}. {Journal of abnormal psychology}. 2018; 127(1): 129-38.
Diminished responding to hearing one’s own name is one of the earliest and strongest predictors of autism spectrum disorder (ASD). Here, we studied, for the first time, the neural correlates of hearing one’s own name in ASD. Based on existing research, we hypothesized enhancement of late parietal positive activity specifically for the own name in neurotypicals, and for this effect to be reduced in adults with ASD. Source localization analyses were conducted to estimate group differences in brain regions underlying this effect. Twenty-one adults with ASD, and 21 age- and gender-matched neurotypicals were presented with 3 categories of names (own name, close other, unknown other) as task-irrelevant deviant stimuli in an auditory oddball paradigm while electroencephalogram was recorded. As expected, late parietal positivity was observed specifically for own names in neurotypicals, indicating enhanced attention to the own name. This preferential effect was absent in the ASD group. This group difference was associated with diminished activation in the right temporoparietal junction (rTPJ) in adults with ASD. Further, a familiarity effect was found for N1 amplitude, with larger amplitudes for familiar names (own name and close other). However, groups did not differ for this effect. These findings provide evidence of atypical neural responding to hearing one’s own name in adults with ASD, suggesting a deficit in self-other distinction associated with rTPJ dysfunction. (PsycINFO Database Record
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14. Nuttall AK, Coberly B, Diesel SJ. {{Childhood Caregiving Roles, Perceptions of Benefits, and Future Caregiving Intentions Among Typically Developing Adult Siblings of Individuals with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Typically developing siblings (TDS) of individuals with Autism Spectrum Disorder (ASD) frequently serve as caregivers during childhood, known as parentification, and primary caregivers for siblings in adulthood. In order to evaluate mechanisms linking these roles, we surveyed emerging-adult TDS (N = 108) about childhood parentification roles caring for parents and siblings, current perceptions of benefits associated with ASD and with engaging in parentification, and intention to provide future caregiving. We hypothesized that parent-focused parentification would negatively impact caregiving intention via perception of decreased benefits whereas sibling-focused parentification would positively impact intention via perception of increased benefits. Results indicate that parent-focused parentification is common and associated with fewer perceived benefits of caregiving and less intention to provide future caregiving. Prevention implications are discussed.
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15. Pellicano L, Mandy W, Bolte S, Stahmer A, Lounds Taylor J, Mandell DS. {{A new era for autism research, and for our journal}}. {Autism}. 2018; 22(2): 82-3.
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16. Solomon O, Lawlor MC. {{Beyond V40.31: Narrative Phenomenology of Wandering in Autism and Dementia}}. {Culture, medicine and psychiatry}. 2018.
Research on autism spectrum disorder (ASD) and on Alzheimer’s Disease (AD) and other types of dementia describes a behaviour called ‘wandering’, a term that denotes movement through space lacking intention or exact destination, as when a person is disoriented or not self-aware. In the U.S., ‘wandering’ in both ASD and AD has been examined mostly from a management and prevention perspective. It prioritizes safety while primarily overlooking personal experiences of those who ‘wander’ and their families, thus limiting the range of potentially effective strategies to address this issue. Communicative challenges faced by many people diagnosed with ASD and AD further obscure the experiential, existential aspects of ‘wandering’. This article reflects an increasing concern of social science scholars interested in whether and how the conceptual and practical strategies to address ‘wandering’ are informed by the situated experiences of people with cognitive and developmental disabilities and their families. We examine ‘wandering’ at the intersections of personal experience, family life, clinical practice, public health policy, and legislation, as a conceptually rich site where notions of personhood, subjectivity, intentionality, and quality of life powerfully and consequentially converge to impact the lives of many people with ASD and AD, and their families. We draw upon critical autism studies describing how attributions of personhood, subjectivity, intentionality, rational agency, and moral autonomy of people with ASD have been contingent upon the norms and conventions governing movement of the human body through space (Hilton, Afr Am Rev 50(2):221-235, 2017). When this movement is deemed aberrant, the person may be construed as irrational, a danger to self because of a lack of self-awareness, and a danger to others because of a lack of empathy. These attributions put the person at risk of being excluded from the considerations and, more importantly, the obligations of the ‘moral community’ to ensure that he or she has a ‘good human life’ (Barnbaum, The Ethics of Autism: Among Them but not of Them. Indiana University Press, Bloomington, 2008; Silvers and Francis, Metaphilosophy 40(3/4):475-498, 2009). Using ethnographic, narrative phenomenological (Mattingly, The Paradox of Hope: Journeys through a Clinical Borderland. Berkeley: University of California Press, 2010), and medical humanities (Charon, JAMA 286:1897-1902, 2001; Narrative Medicine: Honoring the Stories of Illness. New York: Oxford University Press, 2006) approaches, we examine multiple perspectives on ‘wandering’ in ASD and AD across narrative discourse genres, institutional contexts, and media of representation. We argue for an extension of the prevention and management view to focus not only on safety but also on what phenomenologist Merleau-Ponty (1962) called « having a world » (p. 146). The analysis is intended to inform clinical practice, policy and public health efforts to enhance understanding of first and second person perspectives on ‘wandering’ in order to improve the participation and quality of life of people with ASD and AD who ‘wander’, and their families.
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17. Sukasem C, Vanwong N, Srisawasdi P, Ngamsamut N, Nuntamool N, Hongkaew Y, Puangpetch A, Chamkrachangpada B, Limsila P. {{Pharmacogenetics of Risperidone-Induced Insulin Resistance in Children and Adolescents with Autism Spectrum Disorder}}. {Basic & clinical pharmacology & toxicology}. 2018.
The purpose of this study was to explore the association of genetic polymorphism of genes related to pharmacokinetics or pharmacodynamics with insulin resistance in children and adolescents with autism spectrum disorder (ASD) and treated with risperidone. All 89 subjects underwent measurement of fasting blood glucose and insulin levels, body weight and height. Genotyping was performed by Taqman real-time polymerase chain reaction (PCR) (pharmacokinetics genes: cytochrome P450 2D6 (CYP2D6) *4 (rs3892097), *5 (gene deletion), *10 (rs1065852), and *41 (rs28371725), ATP-binding cassette transporter B1 (ABCB1) 2677 G>T/A (rs2032582) and 3435C>T (rs1045642), and pharmacodynamics genes: dopamine receptor D2 (DRD2) Tag-SNP (C>T) (rs4436578), DRD2 Tag1A (C>T) (rs1800497), leptin gene (LEP) -2548G>A (rs7799039), ghrelin gene (GHRL) -604G>A (rs27647), and brain-derived neurotrophic factor (BDNF) 196G>A (rs6265). Drug levels were analysed by liquid chromatography tandem mass spectrometry (LC-MS/MS). The results revealed that five percent of the patients presented with hyperglycaemia. Insulin resistance was detected in 16 percent of the patients. Insulin resistance was associated with LEP 2548 G>A and BDNF 196 G>A polymorphism (P=0.01 and P=0.03). There was no association of pharmacokinetic gene polymorphisms (CYP2D6 and ABCB1) and risperidone levels with insulin resistance. Multiple regression analysis indicated that BDNF 196 G>A polymorphism was significantly associated with insulin resistance (P=0.025). This finding suggested that BDNF 196 G>A polymorphism may be a genetic marker for predicting insulin resistance before initiating treatment in patients treated with risperidone. Because of the small sample size, further studies are needed to confirm these results. This article is protected by copyright. All rights reserved.
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18. Vuillaume ML, Jeanne M, Xue L, Blesson S, Denomme-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bezieau S, Rondard P, Laumonnier F, Toutain A. {{A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype}}. {Annals of neurology}. 2018; 83(2): 437-9.
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19. Zanotti JM. {{Handle with care: Caring for children with autism spectrum disorder in the ED}}. {Nursing}. 2018; 48(2): 50-5.
