1. Adams JB, Audhya T, Geis E, Gehn E, Fimbres V, Pollard EL, Mitchell J, Ingram J, Hellmers R, Laake D, Matthews JS, Li K, Naviaux JC, Naviaux RK, Adams RL, Coleman DM, Quig DW. {{Comprehensive Nutritional and Dietary Intervention for Autism Spectrum Disorder-A Randomized, Controlled 12-Month Trial}}. {Nutrients}. 2018; 10(3).
This study involved a randomized, controlled, single-blind 12-month treatment study of a comprehensive nutritional and dietary intervention. Participants were 67 children and adults with autism spectrum disorder (ASD) ages 3-58 years from Arizona and 50 non-sibling neurotypical controls of similar age and gender. Treatment began with a special vitamin/mineral supplement, and additional treatments were added sequentially, including essential fatty acids, Epsom salt baths, carnitine, digestive enzymes, and a healthy gluten-free, casein-free, soy-free (HGCSF) diet. There was a significant improvement in nonverbal intellectual ability in the treatment group compared to the non-treatment group (+6.7 +/- 11 IQ points vs. -0.6 +/- 11 IQ points, p = 0.009) based on a blinded clinical assessment. Based on semi-blinded assessment, the treatment group, compared to the non-treatment group, had significantly greater improvement in autism symptoms and developmental age. The treatment group had significantly greater increases in EPA, DHA, carnitine, and vitamins A, B2, B5, B6, B12, folic acid, and Coenzyme Q10. The positive results of this study suggest that a comprehensive nutritional and dietary intervention is effective at improving nutritional status, non-verbal IQ, autism symptoms, and other symptoms in most individuals with ASD. Parents reported that the vitamin/mineral supplements, essential fatty acids, and HGCSF diet were the most beneficial.
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2. Bitsika V, Sharpley CF. {{The interaction of Matrix Reasoning and Social Motivation as predictors of Separation anxiety in boys with Autism Spectrum Disorder}}. {Int J Dev Neurosci}. 2018; 67: 6-13.
BACKGROUND: It has been suggested that higher cognitive functioning based in the pre-frontal cortex is implicated in the ability of people with Autism Spectrum Disorder (ASD) to understand and communicate in social situations. Low motivation to engage in social interaction may also be influential in this process. Although both of these factors have been argued to influence the levels of comorbid anxiety in young people with ASD, no detailed examination of those relationships has been reported to date. METHODS: A sample of 90 boys with ASD (aged 6 to 12yr) and 29 of their non-ASD peers, matched for age and IQ, completed tests of cognitive function and anxiety. RESULTS: Only one form of anxiety-fear of being separated from their parents- was significantly associated with cognitive function, at the Full Scale IQ and Matrix Reasoning levels, plus motivation to engage in social interactions, and only for the ASD boys. CONCLUSION: These data represent a complex interaction between the neurobiological aspects of ASD, fluid reasoning, social motivation, and Separation Anxiety in boys with ASD. As such, they bring a new perspective to understanding and treating anxious behaviour in these boys.
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3. Casanova EL, Sharp JL, Edelson SM, Kelly DP, Casanova MF. {{A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility}}. {Behav Sci (Basel)}. 2018; 8(3).
Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey. Respondents completed a questionnaire concerning diagnoses, immune/endocrine symptom history, experiences with pain, and seizure history. ASD women with GJH (ASD/GJH) reported more immune- and endocrine-mediated conditions than their non-GJH counterparts (p = 0.001). Autoimmune conditions were especially prominent in the ASD/GJH group (p = 0.027). Presence of immune-mediated symptoms often co-occurred with one another (p < 0.001-0.020), as did endocrine-mediated symptoms (p < 0.001-0.045), irrespective of the group. Finally, the numbers of immune- and endocrine-mediated symptoms shared a strong inter-relationship (p < 0.001), suggesting potential system crosstalk. While our results cannot estimate comorbidity, they reinforce concepts of an etiological relationship between ASD and GJH. Meanwhile, women with ASD/GJH have complex immune/endocrine exophenotypes compared to their non-GJH counterparts. Further, we discuss how connective tissue regulates the immune system and how the immune/endocrine systems in turn may modulate collagen synthesis, potentially leading to higher rates of GJH in this subpopulation. Lien vers le texte intégral (Open Access ou abonnement)
4. Chao OY, Yunger R, Yang YM. {{Behavioral assessments of BTBR T+Itpr3tf/J mice by tests of object attention and elevated open platform: Implications for an animal model of psychiatric comorbidity in autism}}. {Behav Brain Res}. 2018; 347: 140-7.
Autism spectrum disorders (ASD) are diagnosed based on the behavioral criteria of impaired social interaction, defective communication and repetitive behaviors. Psychiatric comorbidities, such as anxiety and intellectual disability, are commonly present in ASD. The BTBR T+ Itpr3tf/J (BTBR) mice display a range of autistic phenotypes, yet whether this mouse model is appropriate to study psychiatric comorbidity in ASD remains unclear. We addressed this issue by subjecting the BTBR animals to three-chambered apparatus, open field, object attention test and elevated open platform. Compared to C57BL/6J control mice, the BTBR mice displayed hyperactivity in most of the tests. In the three-chamber assessment, they exhibited deficits in sociability. In the open field, more grooming and thigmotaxis and less rearing behaviors were observed. They also showed impaired object-based attention. On the elevated open platform, the BTBR animals stayed more to the edges than in the center of the platform. To further examine the properties of this test, naive C57BL/6J mice were randomly administrated with saline or an anxiogenic substance, caffeine. The caffeine group demonstrated a similar behavioral pattern as the BTBR mice. When the saline group was re-exposed to the same platform, the time they stayed in the center substantially increased, likely due to reduced anxiety by habituation. These results indicate that the BTBR were more anxious than control mice on the open platform. Taken together, the BTBR strain exhibit emotional and cognitive impairments in addition to autistic behaviors, suggesting that they can be a valid model for ASD with psychiatric comorbidity.
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5. Coelho-Medeiros ME, Bronstein J, Aedo K, Pereira JA, Arrano V, Perez CA, Valenzuela PM, Moore R, Garrido I, Bedregal P. {{[Importance of cross-cultural adjustment of M-CHAT R/F in the process of validation as an Autism Test]}}. {Revista chilena de pediatria}. 2017; 88(6): 822-3.
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6. Fung K, Lake J, Steel L, Bryce K, Lunsky Y. {{ACT Processes in Group Intervention for Mothers of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Few studies have examined interventions or therapeutic processes that may help parents of children with Autism Spectrum Disorder (ASD) manage their stress. This study examines the impact of a brief Acceptance and Commitment Therapy (ACT) group intervention, led by parents, among a cohort of 33 mothers of children with ASD. Changes in ACT process measures (psychological flexibility, cognitive fusion, values) were evaluated at pre, post, and 3 months following the intervention. Mothers reported significant improvement post-intervention in psychological flexibility, cognitive fusion, and value-consistent activities in multiple life domains, including parenting, relationships, and self-care. These improvements were maintained at follow-up. The results provide preliminary evidence that improvements observed in depression and stress may be mediated by cognitive fusion and action-values consistency.
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7. Galiana-Simal A, Munoz-Martinez V, Calero-Bueno P, Vela-Romero M, Beato-Fernandez L. {{Towards a future molecular diagnosis of autism: Recent advances in biomarkers research from saliva samples}}. {Int J Dev Neurosci}. 2018; 67: 1-5.
Autism spectrum disorder diagnosis is currently based on clinical observations and behavioral evaluations exclusively, without any biological determination. Molecular biomarkers are usually obtained from biological fluids, such as blood or urine, generally through invasive and uncomfortable procedures. Patients with autism are characterized by sensory reactivity and behavioral difficulties which make sample collection problematic. Saliva has emerged as a feasible alternative to obtain relevant biological information and is especially indicated in the case of children with autism due to its painless and noninvasive sampling characteristics. Furthermore, saliva represents a valuable resource to study candidate biomarkers of autism. This has resulted in a number of interesting studies reported during the last 5 years that we have gathered and briefly discussed.
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8. Hawks ZW, Marrus N, Glowinski AL, Constantino JN. {{Early Origins of Autism Comorbidity: Neuropsychiatric Traits Correlated in Childhood Are Independent in Infancy}}. {Journal of abnormal child psychology}. 2018.
Previous research has suggested that behavioral comorbidity is the rule rather than the exception in autism. The present study aimed to trace the respective origins of autistic and general psychopathologic traits-and their association-to infancy. Measurements of autistic traits and early liability for general psychopathology were assessed in 314 twins at 18 months, ascertained from the general population using birth records. 222 twins were re-evaluated at 36 months. Standardized ratings of variation in social communication at 18 months were highly heritable and strongly predicted autistic trait scores at 36 months. These early indices of autistic liability were independent from contemporaneous ratings of behavior problems on the Brief Infant-Toddler Social and Emotional Assessment (which were substantially environmentally-influenced), and did not meaningfully predict internalizing or externalizing scores on the Achenbach Scales of Empirically Based Assessment at 36 months. In this general population infant twin study, variation in social communication was independent from variation in other domains of general psychopathology, and exhibited a distinct genetic structure. The commonly-observed comorbidity of specific psychiatric syndromes with autism may arise from subsequent interactions between autistic liability and independent susceptibilities to other psychopathologic traits, suggesting opportunities for preventive amelioration of outcomes of these interactions over the course of development.
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9. Hirano D, Taniguchi T. {{What are patients with Rett syndrome interested in?}}. {Journal of physical therapy science}. 2018; 30(2): 258-61.
[Purpose] Rett syndrome is a severe neurodevelopmental disease; individuals typically have no verbal skills or purposeful hand movements. In clinical settings, knowledge of their interests would be helpful for therapy. Therefore, we investigated the interests of Rett syndrome patients. [Subjects and Methods] In 2016, we sent a questionnaire regarding the interests of individuals with Rett syndrome to 1,016 directors of schools for special needs education and 204 directors of rehabilitation departments (130 facilities for persons with severe motor and intellectual disabilities, 73 wards for patients with severe motor and intellectual disabilities, and the National Hospital Organization and National Center Hospital, and the National Center of Neurology and Psychiatry) in Japan. We used descriptive statistics and content analysis to examine the answers to the questionnaires. [Results] Information was acquired from 216 individuals (3-53 years old) with Rett syndrome. 92.9% of the individuals were reported to have some interests (e.g., in people, music, things to see, animation, or books). [Conclusion] Individuals with Rett syndrome were observed to be interested in various things despite their having severe motor and intellectual disabilities. These findings suggest that family members and care staff might facilitate various changes or developments of these individuals and discover their hidden strengths by focusing on their interests.
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10. Hirofuji S, Hirofuji Y, Kato H, Masuda K, Yamaza H, Sato H, Takayama F, Torio M, Sakai Y, Ohga S, Taguchi T, Nonaka K. {{Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome}}. {Biochemical and biophysical research communications}. 2018; 498(4): 898-904.
Rett syndrome is an X-linked neurodevelopmental disorder associated with psychomotor impairments, autonomic dysfunctions and autism. Patients with Rett syndrome have loss-of-function mutations in MECP2, the gene encoding methyl-CpG-binding protein 2 (MeCP2). Abnormal biogenic amine signaling and mitochondrial function have been found in patients with Rett syndrome; however, few studies have analyzed the association between these factors. This study investigated the functional relationships between mitochondria and the neuronal differentiation of the MeCP2-deficient stem cells from the exfoliated deciduous teeth of a child with Rett syndrome. An enrolled subject in this study was a 5-year-old girl carrying a large deletion that included the methyl-CpG-binding domain, transcriptional repression domain, and nuclear localization signal of MECP2. Using the single-cell isolation technique, we found that the two populations of MeCP2-expressing and MeCP2-deficient stem cells kept their MECP2 expression profiles throughout the stages of cell proliferation and neuronal differentiation in vitro. Neurite outgrowth and branching were attenuated in MeCP2-deficient dopaminergic neurons. MeCP2-deficient cells showed reduced mitochondrial membrane potential, ATP production, restricted mitochondrial distribution in neurites, and lower expression of a central mitochondrial fission factor, dynamin-related protein 1 than MeCP2-expressing cells. These data indicated that MeCP2-deficiency dysregulates the expression of mitochondrial factors required for the maturation of dopaminergic neurons. This study also provides insight into the pathogenic mechanism underlying dysfunction of the intracerebral dopaminergic signaling pathway in Rett syndrome.
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11. Kouklari EC, Tsermentseli S, Auyeung B. {{Executive function predicts theory of mind but not social verbal communication in school-aged children with autism spectrum disorder}}. {Res Dev Disabil}. 2018; 76: 12-24.
BACKGROUND: The association between Executive Function (EF) and Theory of Mind (ToM) in autism spectrum disorder (ASD) has been mainly investigated using false belief tasks, whilst less is known about the EF effect on other ToM facets. Furthermore, the role EF plays in social communication in ASD is mainly assessed using parent-report EF ratings rather than direct assessment. AIMS: The aim of this study was to shed more light on the effect of performance-based EF measures on ToM and social communication in middle childhood in ASD relative to neurotypical controls. METHODS AND PROCEDURES: Cross-sectional data were collected from 64 matched, school-aged children with and without ASD (8-12years old), tested on measures of EF (inhibition, working memory, cognitive flexibility), ToM mental state/emotion recognition and social verbal communication. OUTCOMES AND RESULTS: Significant group differences were observed only in selective EF skills (inhibition &cognitive flexibility) and social verbal communication. EF working memory contributed to the explained variance of ToM but not social verbal communication in middle childhood. CONCLUSIONS AND IMPLICATIONS: These findings suggest that EF and ToM are still associated in middle childhood and EF may be a crucial predictor of ToM across childhood in ASD. Implications are discussed regarding the social-cognitive impairment relationship in ASD.
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12. Meyer AT, Powell PS, Butera N, Klinger MR, Klinger LG. {{Brief Report: Developmental Trajectories of Adaptive Behavior in Children and Adolescents with ASD}}. {J Autism Dev Disord}. 2018.
Research suggests that individuals with autism spectrum disorder (ASD) have significant difficulties with adaptive behavior skills including daily living and functional communication skills. Few studies have examined the developmental trajectory of adaptive behavior across childhood and adolescence. The present study examined longitudinal trajectories of adaptive behavior in a community-based clinic sample of 186 individuals with ASD. The overall pattern indicated an initial increase in adaptive behavior during early childhood followed by a plateau in skills during adolescence for individuals of all IQ groups. Given the importance of adaptive behavior for employment and quality of life, this study emphasizes the importance of targeting adaptive behavior during adolescence to insure continued gains.
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13. Schmidt SJ, Behar A, Schultze-Lutter F. {{[Asperger Syndrome and/or Clinical High Risk of Psychosis? A Differential Diagnostic Challenge]}}. {Prax Kinderpsychol Kinderpsychiatr}. 2018; 67(3): 274-93.
Asperger Syndrome and/or Clinical High Risk of Psychosis? A Differential Diagnostic Challenge This case-study deals with the often difficult differential diagnosis of Asperger syndrome and a clinical high risk state of psychosis, in particular as indicated by attenuated psychotic symptoms, as well as with its therapeutic implications. The presented case is a 10-year old girl, who has not been diagnosed with an autism spectrum disorder before being referred to a specialized center for early detection of psychosis due to possible hallucinatory experiences and delusional ideas. We demonstrate how to perform a context-sensitive differential diagnosis to distinguish between specific interests as well as related behaviors and unusual thought content as well as perceptive abnormalities, between paranoid ideas and biased interpretations of the behaviors of others typical for autism, and between disorganized symptoms and autistic unusual communication and social behavior. The resulting dual diagnoses in our case-study formed the basis for a complex differential indication, which considered both the increased stress vulnerability associated with an increased risk for the development of psychosis as well as the rigid thinking style associated with autism. Our case-report shows that such a precise differential indication can lead to stabilization over the long-term, even in patients with dual diagnoses.
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14. Yuge K, Iwama K, Yonee C, Matsufuji M, Sano N, Saikusa T, Yae Y, Yamashita Y, Mizuguchi T, Matsumoto N, Matsuishi T. {{A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl}}. {Brain Dev}. 2018.
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation.
