1. Avirame K, Stehberg J, Todder D. {{Enhanced cognition and emotional recognition, and reduced obsessive compulsive symptoms in two adults with high-functioning autism as a result of deep Transcranial Magnetic Stimulation (dTMS): a case report}}. {Neurocase};2017 (Aug 08):1-6.
We report reduced repetitive behaviors similar to obsessive compulsive disorder and improved emotional recognition and cognitive abilities in two young patients diagnosed with high-functioning Autism as a result of deep transcranial magnetic stimulation (dTMS). The patients received daily high-frequency (5 Hz) dTMS with HAUT-coil over the medial prefrontal cortex for a period of 5-6 weeks. A computerized cognitive battery, tasks for testing emotional recognition, and clinical questionnaires were used to measure the effects of treatment. TMS might have modulated networks related to metalizing abilities and self-referential processes since both patients reported improved sociability and communication skills.
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2. Bieleninik L, Geretsegger M, Mossler K, Assmus J, Thompson G, Gattino G, Elefant C, Gottfried T, Igliozzi R, Muratori F, Suvini F, Kim J, Crawford MJ, Odell-Miller H, Oldfield A, Casey O, Finnemann J, Carpente J, Park AL, Grossi E, Gold C. {{Effects of Improvisational Music Therapy vs Enhanced Standard Care on Symptom Severity Among Children With Autism Spectrum Disorder: The TIME-A Randomized Clinical Trial}}. {Jama};2017 (Aug 08);318(6):525-535.
Importance: Music therapy may facilitate skills in areas affected by autism spectrum disorder (ASD), such as social interaction and communication. Objective: To evaluate effects of improvisational music therapy on generalized social communication skills of children with ASD. Design, Setting, and Participants: Assessor-blinded, randomized clinical trial, conducted in 9 countries and enrolling children aged 4 to 7 years with ASD. Children were recruited from November 2011 to November 2015, with follow-up between January 2012 and November 2016. Interventions: Enhanced standard care (n = 182) vs enhanced standard care plus improvisational music therapy (n = 182), allocated in a 1:1 ratio. Enhanced standard care consisted of usual care as locally available plus parent counseling to discuss parents’ concerns and provide information about ASD. In improvisational music therapy, trained music therapists sang or played music with each child, attuned and adapted to the child’s focus of attention, to help children develop affect sharing and joint attention. Main Outcomes and Measures: The primary outcome was symptom severity over 5 months, based on the Autism Diagnostic Observation Schedule (ADOS), social affect domain (range, 0-27; higher scores indicate greater severity; minimal clinically important difference, 1). Prespecified secondary outcomes included parent-rated social responsiveness. All outcomes were also assessed at 2 and 12 months. Results: Among 364 participants randomized (mean age, 5.4 years; 83% boys), 314 (86%) completed the primary end point and 290 (80%) completed the last end point. Over 5 months, participants assigned to music therapy received a median of 19 music therapy, 3 parent counseling, and 36 other therapy sessions, compared with 3 parent counseling and 45 other therapy sessions for those assigned to enhanced standard care. From baseline to 5 months, mean ADOS social affect scores estimated by linear mixed-effects models decreased from 14.08 to 13.23 in the music therapy group and from 13.49 to 12.58 in the standard care group (mean difference, 0.06 [95% CI, -0.70 to 0.81]; P = .88), with no significant difference in improvement. Of 20 exploratory secondary outcomes, 17 showed no significant difference. Conclusions and Relevance: Among children with autism spectrum disorder, improvisational music therapy, compared with enhanced standard care, resulted in no significant difference in symptom severity based on the ADOS social affect domain over 5 months. These findings do not support the use of improvisational music therapy for symptom reduction in children with autism spectrum disorder. Trial Registration: isrctn.org Identifier: ISRCTN78923965.
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3. Broder-Fingert S, Feinberg E, Silverstein M. {{Music Therapy for Children With Autism Spectrum Disorder}}. {Jama};2017 (Aug 08);318(6):523-524.
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4. Chen H, Nomi JS, Uddin LQ, Duan X, Chen H. {{Intrinsic functional connectivity variance and state-specific under-connectivity in autism}}. {Hum Brain Mapp};2017 (Aug 09)
Autism spectrum disorder (ASD) is a neurodevelopmental condition associated with altered brain connectivity. Previous neuroimaging research demonstrates inconsistent results, particularly in studies of functional connectivity in ASD. Typically, these inconsistent findings are results of studies using static measures of resting-state functional connectivity. Recent work has demonstrated that functional brain connections are dynamic, suggesting that static connectivity metrics fail to capture nuanced time-varying properties of functional connections in the brain. Here we used a dynamic functional connectivity approach to examine the differences in the strength and variance of dynamic functional connections between individuals with ASD and healthy controls (HCs). The variance of dynamic functional connections was defined as the respective standard deviations of the dynamic functional connectivity strength across time. We utilized a large multicenter dataset of 507 male subjects (209 with ASD and 298 HC, from 6 to 36 years old) from the Autism Brain Imaging Data Exchange (ABIDE) to identify six distinct whole-brain dynamic functional connectivity states. Analyses demonstrated greater variance of widespread long-range dynamic functional connections in ASD (P < 0.05, NBS method) and weaker dynamic functional connections in ASD (P < 0.05, NBS method) within specific whole-brain connectivity states. Hypervariant dynamic connections were also characterized by weaker connectivity strength in ASD compared with HC. Increased variance of dynamic functional connections was also related to ASD symptom severity (ADOS total score) (P < 0.05), and was most prominent in connections related to the medial superior frontal gyrus and temporal pole. These results demonstrate that greater intraindividual dynamic variance is a potential biomarker of ASD. Hum Brain Mapp, 2017. (c) 2017 Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
5. Das S, Das B, Nath K, Dutta A, Bora P, Hazarika M. {{Impact of stress, coping, social support, and resilience of families having children with autism: A North East India-based study}}. {Asian J Psychiatr};2017 (Aug);28:133-139.
Children with autism (CWA) is a segment of population in North East India who are marginalized due to lack of resources like skilled manpower and perceived stress. In comparison to other states and countries whether these children are unique in terms of care and rehabilitation from adult caregivers was the focus of our study. The study assessed level of parental stress, social support, coping mechanisms used by family and resilience in meeting the challenges as caregivers. Parents were selected by simple random sampling from a multi-specialty center dedicated to CWA. They were assessed with the help of structured tools like the Parental Stress Scale, the social support appraisals scale, the coping self-efficacy scale, and the Family Resilience Assessment Scale. Results were analyzed with descriptive statistics and findings suggest definite stress among the parents of CWA. Personal time constraint was noticed in majority of parents, which had adversely affected their professional lives. Despite wide array of stress factors, family members had satisfactory coping skills to work in harmony in adverse circumstances. Regarding secondary social support in terms of family, friends, and neighbors, responses were mixed; religious and spirituality were often resorted avenues. Social desirability, fatigue and the sample being restricted to only one center were though the limitations but, this study throws light on pertinent issues related to families with CWA from a region where specialty centers are a rarity. The future implication could focus on CWA’s future, rehabilitation, care and parental concerns which are grossly neglected in North East India.
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6. Garg P, Haynes N, De Lima J, Collins JJ. {{Profile of children with developmental disabilities attending a complex pain clinic of a children’s hospital in Australia}}. {J Paediatr Child Health};2017 (Aug 08)
AIM: To document the profile and management of children with developmental disabilities (DD) attending an outpatient complex pain clinic at a Children’s Hospital in Sydney, Australia. METHODS: Children with DD from 2011 to 2014 were identified from a clinic database, and pain relevant data was collected. RESULTS: A total of 107 (19.6%) of 544 children were identified with DD, and accounted for one-third of clinic attendances. The median age was 14 years (interquartile range: 11-16) and females were slightly over-represented (62, 57.9%). About one-third of children had cerebral palsy (CP) from a variety of prenatal, natal and post-neonatal causes. The lower limb was the most common site for pain in children with CP, while back pain was more frequent in children with other disabilities. Comorbid emotional disorders were significantly associated with the non-CP disabilities. Children who required more than four clinic attendances were more likely to have comorbid anxiety/depression and to be reviewed by multiple specialists. CONCLUSIONS: Long-term persistent pain in children with DD forms a significant cohort of children requiring tertiary level paediatric pain services. Multisystem comorbidities and emotional disorders predict greater service utilisation. Further research into the effectiveness of multidisciplinary pain teams and interventions in this cohort of children is required.
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7. Kommu JVS, K RG, Srinath S, Girimaji SC, S PS, Gopalakrishna G, Doddaballapura KS. {{Profile of two hundred children with Autism Spectrum Disorder from a tertiary child and adolescent psychiatry centre}}. {Asian J Psychiatr};2017 (Aug);28:51-56.
BACKGROUND: There is a recent trend of increase in diagnosis of Autism Spectrum Disorder in India. Till date, there are few retrospective and prospective Indian studies with limited sample sizes ranging from 16 to 94 children. With this background, we planned a retrospective chart review of all new cases of Autism Spectrum Disorder for a period of 1 year in our tertiary care child psychiatry centre. METHODOLOGY: Objectives of this study were to compare the sociodemographic and clinical profile of children below and above 3 years of age and between those who were self-referred versus those referred by professionals. RESULTS: Out of a total of 1957 case records, 201 children (10.3%) were diagnosed with Autism Spectrum Disorder. Male to female ratio was 4:1.2. Mean age of consultation was significantly higher in males. Seventy six percent had a comorbid disorder with Intellectual disability, Attention Deficit Hyperactivity Disorder and Epilepsy being the most common comorbidities. Most caregivers (92.5%) recognized symptoms by 3 years of age. Presenting complaint of poor social response was more prevalent in children <3 years and co-morbidities in children above 3 years. Presenting complaint of speech delay was more common in children who were referred by professionals when compared with those who were self-referred. DISCUSSION: There is a need to sensitize parents and professionals for early intervention and to standardize protocols for assessment and intervention. Lien vers le texte intégral (Open Access ou abonnement)
8. Moore M, Evans V, Hanvey G, Johnson C. {{Assessment of Sleep in Children with Autism Spectrum Disorder}}. {Children (Basel)};2017 (Aug 08);4(8)
Sleep disturbances in children with autism spectrum disorder (ASD) are significantly more prevalent than found in typically developing (TD) children. Given the detrimental impact of poor sleep on cognitive, emotional, and behavioral functioning, it is imperative to screen and assess for sleep disturbances in this population. In this paper, we describe the screening and assessment process, as well as specific measures commonly used for assessing sleep in children with ASD. Advantages and limitations for use in children with ASD are discussed. While subjective measures, such as parent-report questionnaires and sleep diaries, are the most widely used, more objective measures such as actigraphy, polysomnography, and videosomnography provide additional valuable information for both diagnostic purposes and treatment planning. These objective measures, nonetheless, are limited by cost, availability, and feasibility of use with children with ASD. The current review provides an argument for the complementary uses of both subjective and objective measures of sleep specifically for use in children with ASD.
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9. Paquet A, Olliac B, Golse B, Vaivre-Douret L. {{Evaluation of neuromuscular tone phenotypes in children with autism spectrum disorder: An exploratory study}}. {Neurophysiol Clin};2017 (Aug 04)
OBJECTIVE: Motor disorders are known in autism spectrum disorder (ASD), but muscle tone assessments are rarely performed. Muscle tone underpins movement. We investigated muscle tone in 34 ASD children using a standardized neuro-developmental battery, which uses the French norms for muscular tone in children. METHODS: Dangling and extensibility were used to examine passive muscle tone in the upper and lower limbs and the body axis. A comparison between muscles of the right and left sides enabled the determination of tonic laterality. RESULTS: We found a disharmonious tonic typology, with a tonic component for the muscles of the trunk and the proximal muscles of the lower limbs and a laxity component for the ankles and the proximal and distal muscles of the upper limbs (wrists and shoulders). No establishment of tonic laterality was found in the upper limbs in 61% of ASD children (P<0.001). CONCLUSION: The disturbed tonic organization influenced by subcortical structures, such as the cerebellum, may partially explain the motor disorders, and indefinite tonic laterality may also be linked to low hemispheric brain dominance described in autism. This preliminary examination is necessary before any gross motor assessments to understand the nature of movement disorders, explore typologies and highlight possible soft neuro-motor signs. Lien vers le texte intégral (Open Access ou abonnement)
10. Paval D, Rad F, Rusu R, Niculae AS, Colosi HA, Dobrescu I, Dronca E. {{Low Retinal Dehydrogenase 1 (RALDH1) Level in Prepubertal Boys with Autism Spectrum Disorder: A Possible Link to Dopamine Dysfunction?}}. {Clin Psychopharmacol Neurosci};2017 (Aug 31);15(3):229-236.
Objective: Retinal dehydrogenase 1 (RALDH1) is a cytosolic enzyme which acts both as a source of retinoic acid (RA) and as a detoxification enzyme. RALDH1 has key functions in the midbrain dopaminergic system, which influences motivation, cognition, and social behavior. Since dopamine has been increasingly linked to autism spectrum disorder (ASD), we asked whether RALDH1 could contribute to the autistic phenotype. Therefore, we investigated for the first time the levels of RALDH1 in autistic patients. To further assess the detoxification function of RALDH1, we also explored 4-hydroxynonenal protein adducts (4-HNE PAs) and reduced glutathione (GSH) levels. Moreover, considering the effect of testosterone on RALDH1 expression, we measured the second to fourth digit ratio (2D:4D ratio) for both hands, which reflects exposure to prenatal testosterone. Methods: Male patients with ASD (n=18; age, 62.9+/-4.3 months) and healthy controls (n=13; age, 78.1+/-4.9 months) were examined. Erythrocyte RALDH1, serum 4-HNE PAs and erythrocyte GSH levels were measured using colorimetric assays, and digit lengths were measured using digital calipers. Results: We found significantly lower (-42.9%) RALDH1 levels in autistic patients as compared to controls (p=0.032). However, there was no difference in 4-HNE PAs levels (p=0.368), GSH levels (p=0.586), or 2D:4D ratios (p=0.246 in the left hand, p=0.584 in the right hand) between healthy controls and autistic subjects. Conclusion: We concluded that a subset of autistic patients had a low RALDH1 level. These results suggest that low RALDH1 levels could contribute to the autistic phenotype by reflecting a dopaminergic dysfunction.
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11. Saito A, Stickley A, Haraguchi H, Takahashi H, Ishitobi M, Kamio Y. {{Association Between Autistic Traits in Preschool Children and Later Emotional/Behavioral Outcomes}}. {J Autism Dev Disord};2017 (Aug 07)
Although children with a greater number of autistic traits are likely to have other mental health problems, research on the association between earlier autistic traits in preschool children and later emotional/behavioral outcomes is scarce. Using data from 189 Japanese community-based children, this study examined whether autistic traits at age 5 were related to emotional/behavioral outcomes at age 7. The results showed that prior autistic traits were subsequently associated with all emotional/behavioral domains. After controlling for baseline emotional/behavioral scores autistic traits continued to predict later emotional symptoms and peer problems. This study highlights that in addition to clinical ASD, it is also important to focus on subthreshold autistic traits in preschool children for better subsequent emotional/behavioral outcomes.
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12. Turcios J, Cook B, Irwin J, Rispoli T, Landi N. {{A Familiarization Protocol Facilitates the Participation of Children with ASD in Electrophysiological Research}}. {J Vis Exp};2017 (Jul 31)(125)
This paper includes a detailed description of a familiarization protocol, which is used as an integral component of a larger research protocol to collect electroencephalography (EEG) data and Event-Related Potentials (ERPs). At present, the systems available for the collection of high-quality EEG/ERP data make significant demands on children with developmental disabilities, such as those with an Autism Spectrum Disorder (ASD). Children with ASD may have difficulty adapting to novel situations, tolerating uncomfortable sensory stimuli, and sitting quietly. This familiarization protocol uses Evidence-Based Practices (EBPs) to increase research participants’ knowledge and understanding of the specific activities and steps of the research protocol. The tools in this familiarization protocol are a social narrative, a visual schedule, the Premack principle, role-playing, and modeling. The goal of this familiarization protocol is to increase understanding and agency and to potentially reduce anxiety for child participants, resulting in a greater likelihood of the successful completion of the research protocol for the collection of EEG/ERP data.
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13. Volden J, Dodd E, Engel K, Smith IM, Szatmari P, Fombonne E, Zwaigenbaum L, Mirenda P, Bryson S, Roberts W, Vaillancourt T, Waddell C, Elsabbagh M, Bennett T, Georgiades S, Duku E. {{Beyond Sentences: Using the Expression, Reception, and Recall of Narratives Instrument to Assess Communication in School-Aged Children With Autism Spectrum Disorder}}. {J Speech Lang Hear Res};2017 (Aug 04):1-13.
Purpose: Impairments in the social use of language are universal in autism spectrum disorder (ASD), but few standardized measures evaluate communication skills above the level of individual words or sentences. This study evaluated the Expression, Reception, and Recall of Narrative Instrument (ERRNI; Bishop, 2004) to determine its contribution to assessing language and communicative impairment beyond the sentence level in children with ASD. Method: A battery of assessments, including measures of cognition, language, pragmatics, severity of autism symptoms, and adaptive functioning, was administered to 74 8- to 9-year-old intellectually able children with ASD. Results: Average performance on the ERRNI was significantly poorer than on the Clinical Evaluation of Language Fundamentals-Fourth Edition (CELF-4). In addition, ERRNI scores reflecting the number and quality of relevant story components included in the participants’ narratives were significantly positively related to scores on measures of nonverbal cognitive skill, language, and everyday adaptive communication, and significantly negatively correlated with the severity of affective autism symptoms. Conclusion: Results suggest that the ERRNI reveals discourse impairments that may not be identified by measures that focus on individual words and sentences. Overall, the ERRNI provides a useful measure of communicative skill beyond the sentence level in school-aged children with ASD.
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14. Wen Z, Cheng TL, Li GZ, Sun SB, Yu SY, Zhang Y, Du YS, Qiu Z. {{Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation}}. {Mol Autism};2017;8:43.
BACKGROUND: Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD). We set out to screen for MECP2 mutations in patients of ASD and determine whether these autism-related mutations may compromise the proper function of MeCP2. METHODS: Whole-exome sequencing was performed to screen MECP2 and other ASD candidate genes for 120 patients diagnosed with ASD. The parents of patients who were identified with MECP2 mutation were selected for further Sanger sequencing. Each patient accomplished the case report form including general information and clinical scales applied to assess their clinical features. Mouse cortical neurons and HEK-293 cells were cultured and transfected with MeCP2 wild-type (WT) or mutant to examine the function of autism-associated MeCP2 mutants. HEK-293 cells were used to examine the expression of MeCP2 mutant constructs with Western blot. Mouse cortical neurons were used to analyze neurites and axon outgrowth by immunofluorescence experiments. RESULTS: We identified three missense mutations of MECP2 from three autism patients by whole-exome sequencing: p.P152L (c.455C>T), p.P376S (c.1162C>T), and p.R294X (c.880C>T). Among these mutations, p.P152L and p.R294X were de novo mutations, whereas p.P376S was inherited maternally. The diagnosis of RTT was excluded in all three autism patients. Abnormalities of dendritic and axonal growth were found after autism-related MeCP2 mutants were expressed in mouse cortical neurons; suggesting that autism-related MECP2 mutations impair the proper development of neurons. CONCLUSIONS: Our study identified genetic mutations of the MECP2 gene in autism patients, which were previously considered to be associated primarily with RTT. This finding suggests that loss-of-function mutations of MECP2 may also lead to autism spectrum disorders.
