1. Alster P, Koziorowski DM, Za Bek M, Dzierzecki S, Ma Dry J, Duszynska-Wa SK, Grygarowicz H, Zielonko J, Krolicki L, Friedman A. {{Making a Difference-Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)}}. {Frontiers in neurology}. 2018; 9: 512.
Fragile X Tremor Ataxia Syndrome (FXTAS) is a syndrome based on expansion of the repeats of CGG triplets. The symptoms include action tremor and cerebellar gait ataxia. Additionally symptomatology of FXTAS may be associated to parkinsonism, executive function deficits, dementia, neuropathy and dysautonomia. We present a case of a patient who after 20 year history of progressive tremor and ataxia, was diagnosed after genetic examination as mutation of FXTAS. For the treatment of tremor the patient underwent Gamma Knife (GK) thalamotomy. Reduced tremor on the right side and improvement in everyday activities were observed in the outcome of the treatment. GK thalamotomy, in the context of this patient, did not significantly affect the ataxia.
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2. Andrews SL, Iyer S, Rodda C, Fitzgerald J. {{Scurvy: A rare cause for limp in a child with autism spectrum disorder}}. {Journal of paediatrics and child health}. 2018.
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3. Byrappagari D, Jung Y, Chen K. {{Oral health care for patients with developmental disabilities: A survey of Michigan general dentists}}. {Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry}. 2018.
AIMS: The aim of this study to examine the level of access to dental care in Michigan for individuals with DD and explore the dentists’ practices, attitudes, and perceived barriers to providing care to this vulnerable population. METHODS AND RESULTS: A survey was mailed to a random sample of 1250 general dental practitioners with an active license in the State of Michigan. The survey included questions related to dentists’ demographic information, opinion about willingness, barriers, and training needs associated with delivering care to children and adults with developmental disabilities. Descriptive statistics were computed and chi-squared tests and logistic regression models analyzed the association between predictor and key outcome variables. Results show that most dentists treated individuals with developmental disabilities (80.3%). Respondents who indicated that they currently do not treat these patients identified behavior management of patient (67.9%), inadequate training and experiences (52.4%) and severity of patient’s condition (41.7%) as the most common reasons for not providing care to individuals with developmental disabilities. CONCLUSION: A majority of Michigan general dentists treat patients with developmental disabilities. Addressing barriers like training and improved reimbursements might help in increasing the number of dentists willing to treat patients with developmental disabilities.
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4. Hurd C, Evans C, Renwick R. {{« Having friends is like having marshmallows »: Perspectives of transition-aged youths with intellectual and developmental disabilities on friendship}}. {J Appl Res Intellect Disabil}. 2018.
BACKGROUND: The literature emphasizes that friendships are essential to youths’ successful transition to and adjustment in adulthood. Few studies have explored the friendships of transition-aged youths with intellectual and developmental disabilities (IDD), and even fewer include youths’ own perspectives. This qualitative study explored the perspectives of transition-aged youths with IDD regarding their own experiences of friendship. METHOD: A subset of video-recorded data of 21 interviews with seven participants (20-24 years) was extracted from a larger study for secondary analysis. Data were analysed using thematic analysis, informed by constructivist grounded theory methods. RESULTS: Three themes were revealed: meanings of friends and friendship, deepening self-knowledge and negotiating in(ter)dependence. CONCLUSIONS: The findings expand existing knowledge about friendships of transition-aged youths with IDD. Findings can potentially inform development of new services or enhancement of existing services aimed at facilitating transition to adulthood for youths with IDD and point to key areas for future research.
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5. Khalifa D, Shahin O, Salem D, Raafat O. {{Serum glutamate was elevated in children aged 3-10 years with autism spectrum disorders when they were compared with controls}}. {Acta paediatrica (Oslo, Norway : 1992)}. 2018.
AIM: This study aimed to see whether measuring serum glutamate in children with autism spectrum disorder (ASD) could provide a biological marker that could allow early intervention. METHODS: Serum glutamate was measured in 30 patients aged 3-10 years presenting with ASD to the Abou El Reesh Hospitals, Cairo University, Egypt and 30 matched controls without ASD in 2015. The Vineland Social Maturity Scale was applied to assess social competence, self- help skills and adaptive behaviour in both groups. The severity of autism was measured with the Childhood Autism Rating Scale test. RESULTS: The patients’ group showed higher mean values of serum glutamate (5.888) than the control group (2.521) and the statistical difference was significant (p = 0.00021). There was no significant difference (p = 0.151) in the serum level of glutamate between patients receiving 1-2 mg of risperidone (6.519 +/- 2.851) and those who were free from any medication for at least six weeks (5.157 +/- 2.184). CONCLUSION: We found higher levels of serum glutamate in subjects with ASD and this might reflect altered glutamatergic neurotransmission which may aid early ASD detection. Further investigations are needed with a large number of participants to further clarify the possibility of using glutamate as a biomarker for ASD.
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6. Li Y, Stockton ME, Eisinger BE, Zhao Y, Miller JL, Bhuiyan I, Gao Y, Wu Z, Peng J, Zhao X. {{Reducing histone acetylation rescues cognitive deficits in a mouse model of Fragile X syndrome}}. {Nat Commun}. 2018; 9(1): 2494.
Fragile X syndrome (FXS) is the most prevalent inherited intellectual disability, resulting from a loss of fragile X mental retardation protein (FMRP). Patients with FXS suffer lifelong cognitive disabilities, but the function of FMRP in the adult brain and the mechanism underlying age-related cognitive decline in FXS is not fully understood. Here, we report that a loss of FMRP results in increased protein synthesis of histone acetyltransferase EP300 and ubiquitination-mediated degradation of histone deacetylase HDAC1 in adult hippocampal neural stem cells (NSCs). Consequently, FMRP-deficient NSCs exhibit elevated histone acetylation and age-related NSC depletion, leading to cognitive impairment in mature adult mice. Reducing histone acetylation rescues both neurogenesis and cognitive deficits in mature adult FMRP-deficient mice. Our work reveals a role for FMRP and histone acetylation in cognition and presents a potential novel therapeutic strategy for treating adult FXS patients.
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7. Lv QQ, You C, Zou XB, Deng HZ. {{Acyl-carnitine, C5DC, and C26 as potential biomarkers for diagnosis of autism spectrum disorder in children}}. {Psychiatry Res}. 2018; 267: 277-80.
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that shown a close association with impaired lipid metabolism. The acyl-carnitine spectrum status in Chinese children with ASD has not been reported. In this study, we assessed the levels of blood acyl-carnitines in Chinese children with ASD and examined the relation between acyl-carnitine profiles and the intelligence levels. Blood levels of acyl-carnitines were determined by tandem mass spectrometry in 60 children with ASD and 30 typically developing children. Chinese Wechsler Young Children Scale of Intelligence (C-WYCSI) was used in ASD group. Blood levels of free carnitine, glutaricyl carnitine, octyl carnitine, twenty four carbonyl carnitine and carnosyl carnitine in the ASD group were significantly lower than those in the control group. Glutaryl carnitine and carnosyl carnitine might be potential biomarkers for diagnosis of ASD. The changes in the acyl-carnitine spectrum indicate potential mitochondrial dysfunction and abnormal fatty acid metabolism in preschool ASD children.
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8. Madipakkam AR, Rothkirch M, Dziobek I, Sterzer P. {{Access to awareness of direct gaze is related to autistic traits}}. {Psychological medicine}. 2018: 1-7.
BACKGROUND: The atypical processing of eye contact is a characteristic hallmark of autism spectrum disorder (ASD). The severity of these symptoms, however, is thought to lie on a continuum that extends into the typical population. While behavioural evidence shows that differences in social cognitive tasks in typically developed (TD) adults are related to the levels of autistic-like traits, it remains unknown whether such a relation exists for the sensitivity to direct gaze. METHODS: In two experiments, we measured reaction times to detect the faces with direct and averted gaze, suppressed from awareness, i.e. the access to awareness. In experiment 1, we tested N = 19 clinically diagnosed adults with ASD and N = 22 TD matched controls, while in experiment 2, we tested an independent sample of N = 20 TD adults. RESULTS: In line with the literature, experiment 1 showed preferential processing of direct gaze in the TD group but not in the ASD group. Importantly, we found a linear relationship in both experiments between the levels of autistic traits within the groups of TD participants and their sensitivity to direct gaze: with increasing autistic characteristics, there was a decrease in sensitivity to direct gaze. CONCLUSION: These results provide the first evidence that differences in gaze processing and the sensitivity to direct gaze are already present in individuals with subclinical levels of autistic traits. Furthermore, they lend support to the continuum view of the disorder and could potentially help in an earlier diagnosis of individuals at high risk for autism.
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9. Qin B, Wang L, Zhang Y, Cai J, Chen J, Li T. {{Enhanced Topological Network Efficiency in Preschool Autism Spectrum Disorder: A Diffusion Tensor Imaging Study}}. {Frontiers in psychiatry}. 2018; 9: 278.
Background: The functional mechanism behind autism spectrum disorder (ASD) is not clear, but it is related to a brain connectivity disorder. Previous studies have found that functional brain connectivity of ASD is linked to both increased connections and weakened connections, and the inconsistencies in functional brain connectivity may be related to age. The functional connectivity in adolescents and adults with ASD is generally less than in age-matched controls; functional connectivity in younger children with the disorder appears to be higher. As the basis of the functional network, the structural network is less studied. This study intends to further study the pathogenesis of ASD by analyzing the white matter network of ASD preschool children. Materials and Methods: In this study, Diffusion Tensor Imaging (DTI) was used to scan preschool children (aged 2-6 years, 39 children with ASD, 19 children as controls), and graph theory was used for analysis. Result: Enhanced topological network efficiency was found in the preschool children with ASD. A higher nodal efficiency was found in the left precuneus, thalamus, and bilateral superior parietal cortex, and the nodal efficiency of the left precuneus was positively associated with the severity of ASD. Conclusion: Our research shows the white matter network efficiency of preschoolers with ASD. It supports the theory of excessive early brain growth in ASD, and it shows left brain lateralization. It opens the way for new research perspectives of children with ASD.
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10. Thabtah F, Kamalov F, Rajab K. {{A new computational intelligence approach to detect autistic features for autism screening}}. {International journal of medical informatics}. 2018; 117: 112-24.
Autism Spectrum Disorder (ASD) is one of the fastest growing developmental disability diagnosis. General practitioners (GPs) and family physicians are typically the first point of contact for patients or family members concerned with ASD traits observed in themselves or their family member. Unfortunately, some families and adult patients are unaware of ASD traits that may be exhibited and as a result do not seek out necessary diagnostic services or contact their GP. Therefore, providing a quick, accessible, and simple tool utilizing items related to ASD to these families may increase the likelihood they will seek professional assessment and is vital to the early detection and treatment of ASD. This study aims at identifying fewer, albeit influential, features in common ASD screening methods in order to achieve efficient screening as demands on evaluating the items’ influences on ASD within existing tools is urgent. To achieve this aim, a computational intelligence method called Variable Analysis (Va) is proposed that considers feature-to-class correlations and reduces feature-to-feature correlations. The results of the Va have been verified using two machine learning algorithms by deriving automated classification systems with respect to specificity, sensitivity, positive predictive values (PPVs), negative predictive values (NPVs), and predictive accuracy. Experimental results using cases and controls related to items in three common screening methods, along with features related to individuals, have been analysed and compared with results obtained from other common filtering methods. The results exhibited that Va was able to derive fewer numbers of features from adult, adolescent, and child screening methods yet maintained competitive predictive accuracy, sensitivity, and specificity rates.
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11. Van Herwegen J, Rundblad G. {{A Cross-Sectional and Longitudinal Study of Novel Metaphor and Metonymy Comprehension in Children, Adolescents, and Adults With Autism Spectrum Disorder}}. {Front Psychol}. 2018; 9: 945.
Previous studies have shown that comprehension of figurative language is impaired in individuals with autism spectrum disorder (ASD). However, most studies have focused on lexicalized expressions and have only examined performance at one particular point in time, without examining how performance changes over development. The current study examined the comprehension of novel metaphor and metonymy in individuals with ASDs from a large age range, using both a cross-sectional (Experiment 1) and longitudinal design (Experiment 2). Performance in the ASD group was lower compared to typically developing (TD) controls, across all ages. Importantly, the results from Experiments 1 and 2 showed that, although chronological age was not a good predictor for performance of either novel metaphor or metonymy in the cross-sectional design, performance improved when longitudinal data was considered. Correlations between vocabulary knowledge, visuo-spatial abilities and figurative language comprehension abilities were also explored.
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12. Weiss EM, Walter C, Fink A, Schulter G, Mittenecker E, Papousek I. {{Age-moderating effect in prepotent response inhibition in boys with Asperger syndrome: a 2.5 years longitudinal study}}. {European archives of psychiatry and clinical neuroscience}. 2018.
Following our previous cross-sectional analysis, indicating age-related improvements of response inhibition in a random-motor-generation task (MPT) in adolescents with Asperger syndrome (AS), the present study reports data from a 2.5-year follow-up examination in the original sample. We found more marked improvements within the follow-up interval in younger AS children, while older AS boys as well as typically developing (TD) boys remained at a relatively constant level throughout. The current longitudinal study further substantiates the notion that AS children (on average) catch up with TD children when they grow older as regards the basic inhibition of developing routine response patterns.
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13. Wong K, Downs J, Ellaway C, Baikie G, Ravikumara M, Jacoby P, Christodoulou J, Elliott EJ, Leonard H. {{Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population}}. {The Journal of pediatrics}. 2018.
OBJECTIVES: To evaluate how age-related trends in nutritional status, physical health, and parental well-being in females with Rett syndrome may be related to gastrostomy placement and to examine the impact of the procedure on mortality. STUDY DESIGN: We included 323 females from the Australian Rett Syndrome Study and analyzed their demographic, genetic, and child and parental health data collected from over 6 waves of follow-up questionnaire between 2000 and 2011. We used mixed-effects models to estimate the association between repeated measures of outcomes and age, gastrostomy placement and their interaction and Cox proportional hazards regression models to estimate relative risks of mortality for individuals with gastrostomy. RESULTS: Nearly one-third (30.3%) of the cases underwent gastrostomy placement. Nutritional status based on weight, height, and body mass index (BMI) improved over time, and BMI was greater in individuals with gastrostomy placement than in those without (adjusted beta = 0.87, 95% CI 0.02-1.73). There was no association between gastrostomy placement and individual’s physical health outcomes or parental physical and mental health, nor did the age trend of these outcomes vary by gastrostomy insertion status. Nevertheless, among those at risk of suboptimal weight, the all-cause mortality rate was greater in those who had gastrostomy placement compared with those who had not (hazard ratio 4.07, 95% CI 1.96-8.45). CONCLUSION: Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear.
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14. Zhou H, Li C, Luo X, Wu L, Huang Y, Zhang L, Zou X, Xu X, Jiang YH, Yan W, Wang Y. {{Cross-Cultural Revision and Psychometric Properties of the Chinese Version of the Autism Spectrum Rating Scale (2-5 Years)}}. {Frontiers in neurology}. 2018; 9: 460.
Background: No sufficient biomarkers are available for early identification of autism in the general population. Currently, the diagnosis of ASD depends on behavioral assessments. A useful screening tool can help to detect early autistic symptoms and provide children an early opportunity for ASD-related interventions. This research aimed to assess cross-cultural adaptation and psychometric properties of the autism spectrum rating scale (ASRS) under the Chinese cultural environment. Methods: Participants were recruited from 17 kindergartens and 5 special education schools across five cities (Shanghai, Guangzhou, Changsha, Chengdu, and Harbin) in China. A total of 2,181 kindergarten children and 207 ASD cases participated in this study. Mplus 7.03 was utilized to conduct exploratory factor analysis, followed by adaptive modifications to construct the revised Chinese version of the ASRS (RC_ASRS). Results: The result showed that 62 items comprised a two-factor structure; Factor 1 (social communication, SC) included 21 items, and Factor 2 (unusual behavior, UB) included 41 items. Cronbach’s alpha ranged from 0.87 to 0.91 within the RC_ASRS. The total score and the SC and UB scores were significantly higher in ASD cases than in kindergarten samples (Cohen’s d ranged from 0.82 to 2.72). The total RC_ASRS score showed an area under the curve (AUC) of 0.95 (95% CI: 0.93-0.97). With a total score cut-off >/= 60, the RC_ASRS is an excellent tool to identify ASD cases from Chinese kindergarten children (sensitivity = 88.6%, specificity = 84.5%). Conclusions: The RC_ASRS has excellent psychometric properties and is a reliable, useful tool for early ASD screening among Chinese children.
