1. Al Khateeb JM, Kaczmarek L, Al Hadidi MS. {{Parents’ perceptions of raising children with autism spectrum disorders in the United States and Arab countries: A comparative review}}. {Autism};2019 (Mar 28):1362361319833929.
Four databases were searched to identify studies published by Arab researchers on parents’ perceptions of autism spectrum disorder and studies conducted by US researchers and published in systematic reviews of this topic. The electronic search resulted in 14 studies published by Arab researchers and 55 studies published by US researchers. The results showed that autism spectrum disorder has many of the same effects on Arab and American families. Six major areas were identified in the results. Financial difficulties associated with raising children with autism spectrum disorder were mentioned more in Arab studies than in US studies. Arab studies had more emphasis on gender than US studies. The results related to quality of life of parents of children with autism spectrum disorder in Arab studies were equivocal. US studies included comparisons with families without a child with autism spectrum disorder, and addressed factors that were associated with quality of life indicators. More health, educational, and social services were available in United States than in Arab countries, but some frustration was reported by US parents in obtaining appropriate services in some studies. A higher percentage of Arab studies mentioned the role of religious faith than US studies. Finally, social stigma was evidenced in both cultures, but not much research was available.
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2. Bussu G, Jones EJH, Charman T, Johnson MH, Buitelaar JK. {{Latent trajectories of adaptive behaviour in infants at high and low familial risk for autism spectrum disorder}}. {Mol Autism};2019;10:13.
Background: Autism spectrum disorder (ASD) is characterised by persisting difficulties in everyday functioning. Adaptive behaviour is heterogeneous across individuals with ASD, and it is not clear to what extent early development of adaptive behaviour relates to ASD outcome in toddlerhood. This study aims to identify subgroups of infants based on early development of adaptive skills and investigate their association with later ASD outcome. Methods: Adaptive behaviour was assessed on infants at high (n = 166) and low (n = 74) familial risk for ASD between 8 and 36 months using the Vineland Adaptive Behavior Scales (VABS-II). The four domains of VABS-II were modelled in parallel using growth mixture modelling to identify distinct classes of infants based on adaptive behaviour. Then, we associated class membership with clinical outcome and ASD symptoms at 36 months and longitudinal measures of cognitive development. Results: We observed three classes characterised by decreasing trajectories below age-appropriate norms (8.3%), stable trajectories around age-appropriate norms (73.8%), and increasing trajectories reaching average scores by age 2 (17.9%). Infants with declining adaptive behaviour had a higher risk (odds ratio (OR) = 4.40; confidence interval (CI) 1.90; 12.98) for ASD and higher parent-reported symptoms in the social, communication, and repetitive behaviour domains at 36 months. Furthermore, there was a discrepancy between adaptive and cognitive functioning as the class with improving adaptive skills showed stable cognitive development around average scores. Conclusions: Findings confirm the heterogeneity of trajectories of adaptive functioning in infancy, with a higher risk for ASD in toddlerhood linked to a plateau in the development of adaptive functioning after the first year of life.
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3. Haida O, Al Sagheer T, Balbous A, Francheteau M, Matas E, Soria F, Fernagut PO, Jaber M. {{Sex-dependent behavioral deficits and neuropathology in a maternal immune activation model of autism}}. {Transl Psychiatry};2019 (Mar 28);9(1):124.
Infections during gestation and the consequent maternal immune activation (MIA) increase the risk of developing neuropsychiatric disorders in infants and throughout life, including autism spectrum disorders (ASD). ASD is a neurodevelopmental disorder that affects three times more males than females and is mainly characterized by deficits in social communication and restricted interests. Consistent findings also indicate that ASD patients suffer from movement disorders, although these symptoms are not yet considered as diagnosis criteria. Here we used the double-stranded RNA analog polyinosinic:polycytidylic acid (poly I:C) MIA animal model of ASD in mice and explored its effects in males and females on social and motor behavior. We then investigated brain areas implicated in controlling and coordinating movements, namely the nigro-striatal pathway, motor cortex and cerebellum. We show that male mice are more affected by this treatment than females as they show reduced social interactions as well as motor development and coordination deficits. Reduced numbers of Purkinje cells in the cerebellum was found more widespread and within distinct lobules in males than in females. Moreover, a reduced number of neurons was found in the motor cortex of males only. These results suggest that females are better protected against developmental insults leading to ASD symptoms in mice. They also point to brain areas that may be targeted to better manage social and motor consequences of ASD.
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4. Helt MS, Fein DA, Vargas JE. {{Emotional contagion in children with autism spectrum disorder varies with stimulus familiarity and task instructions}}. {Dev Psychopathol};2019 (Mar 29):1-11.
Although deficits in cognitive empathy are well established in individuals with autism spectrum disorder (ASD), the literature on emotional empathy, or emotional contagion, in individuals with ASD is sparse and contradictory. The authors tested susceptibility to contagious yawning and laughter in children with ASD (n = 60) and typically developing (TD) children (n = 60), ages 5-17 years, under various conditions, to elucidate factors that may affect emotional contagion in these populations. Although TD children showed equal amounts of emotional contagion across conditions, children with ASD were highly influenced by the familiarity of the target stimulus, as well as task instructions that encourage eye gaze to target. More specifically, children with ASD exhibited less contagious yawning and laughter than their TD peers except when their attention was explicitly directed to the eyes or (and even more so) when their parents served as the stimulus targets. The authors explore the implications of these findings for theories about the mechanisms underlying empathic deficits in ASD as well as the clinical implications of having parents involved in treatment.
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5. Kaushik JS, Gupta P. {{50 Years Ago in The Journal of Pediatrics: Sensory Isolation Therapy of Autistic Children}}. {J Pediatr};2019 (Apr);207:184.
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6. Le Menn-Tripi C, Vachaud A, Defas N, Malvy J, Roux S, Bonnet-Brilhault F. {{[Sensory-psychomotor evaluation in Autism: A new tool for functional diagnosis]}}. {Encephale};2019 (Mar 25)
INTRODUCTION: Psychomotor impairments in Autism Spectrum Disorders (ASD) have frequently been described in scientific literature. Such deficits impact upon the development of social motor function and interfere with the ability to adjust to everyday life. The inclusion of sensory-motor signs in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) confirms their importance in the diagnosis of ASD. Previous literature has shown the presence precocity of these signs, sometimes before the alteration of the social communication. To our knowledge, there are no existing clinical tools to measure sensory-psychomotor deficit, specifically in ASD. The current paper presents the construction and validation of a new scale, designed to evaluate sensory-psychomotor signs in Autism: ‘the Sensory-psychomotor Particularities Scale in Autism’ (SPSA). METHOD: The scale is composed of 160 items describing common sensory-psychomotor signs in autism. These items are grouped into 20 variables: touch, nociception, vestibular sensitivity, proprioceptive sensitivity, vision, auditory, multimodality, tone, posture, balance, global coordination, manual dexterity, body schema, bodily self-consciousness, relational adjustment, emotional expression, use of objects, space, time and tonico-emotional regulation. For each item, the psychomotor therapist evaluated sensori-psychomotor signs according to a five-level Likert scale (0= »the sign is never expressed by the person », 1= »weakly expressed », 2= »moderately expressed », 3= »severely expressed » and 4= »the sign is very characteristic of the person and very severely expressed »). This is completed by a family interview in order to assess the impact of these signs on everyday situations. The study included 111 children with autism. The presence of neurological and genetic diseases was exclusion criteria. For each child, a global developmental evaluation was carried out by an expert clinical team specializing in ASD. Standardized clinical tools were used: Autism Diagnostic Observation Schedule (ADOS), Childhood Autism Rating Scale (CARS), Behavior Summarized Evaluation scale (BSE-R), Repeated and Restricted Behavior scale (RRB), Movement Assessment Battery for Children (M-ABC), Motor Development Rating scale (MDR), Sensory Profile (SP). Developmental quotients (DQ) were evaluated using various tests depending on age and ability. RESULTS: Factor analysis produced three clinically relevant factors: F1: « sensory-emotional synchronization », F2: « multisensory integration » and F3: « motor skills »: each containing a similar quantity of items. They account for roughly equal percentages of variance (18.9%, 18.0%, 16.8%, respectively). The factorial structure does not change if the 26 children with comorbid developmental coordination disorder are removed. The three factors show good internal consistency and excellent inter-rater reliability. F1 is comprised of 6 items: touch, nociception, proprioceptive sensitivity, vision, emotional expression and tonico-emotional regulation. This factor is significantly associated with items of the Sensory Profile (touch processing, poor registration, sensory seeking). F2 is comprised of 5 items: multimodality, bodily self-consciousness, relational adjustment, use of objects and space. This factor is associated with ADOS, BSE-R and RRB scores, and the item « touch processing » of the Sensory Profile. F3 is comprised of 4 items: tone, posture, global coordination, manual dexterity. This factor is associated with the M-ABC, the MDR and the item « low endurance » of the Sensory Profile. CONCLUSION: The SPSA is a relevant clinical tool to assess the severity of sensory-psychomotor clinical signs in order to describe the individual profiles of children with ASD. It represents a critical step in advancing knowledge of the complex and heterogeneous pattern of psychomotor development in autism. It could make a valuable contribution to the field, both in research and clinical practice.
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7. Operto FF, Mazza R, Pastorino GMG, Verrotti A, Coppola G. {{Epilepsy and genetic in Rett syndrome: A review}}. {Brain Behav};2019 (Mar 30):e01250.
INTRODUCTION: Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that primarily affects girls, with an incidence of 1:10,000-20,000. The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6-12 months) followed by a rapid decline with regression of acquired motor skills, loss of spoken language and purposeful hand use, onset of hand stereotypes, abnormal gait, and growth failure. The course of the disease, in its classical form, is characterized by four stages. Three different atypical variants of the disease have been defined. Epilepsy has been reported in 60%-80% of patients with RTT; it differs among the various phenotypes and genotypes and its severity is an important contributor to the clinical severity of the disease. METHODS: In this manuscript we reviewed literature on RTT, focusing on the different genetic entities, the correlation genotype-phenotype, and the peculiar epileptic phenotype associated to each of them. RESULTS: Mutations in MECP2 gene, located on Xq28, account for 95% of typical RTT cases and 73.2% of atypical RTT. CDKL5 and FOXG1 are other genes identified as causative genes in atypical forms of RTT. In the last few years, a lot of new genes have been identified as causative genes for RTT phenotype. CONCLUSIONS: Recognizing clinical and EEG patterns in different RTT variants may be useful in diagnosis and management of these patients.
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8. Petanjek Z, Sedmak D, Dzaja D, Hladnik A, Rasin MR, Jovanov-Milosevic N. {{The Protracted Maturation of Associative Layer IIIC Pyramidal Neurons in the Human Prefrontal Cortex During Childhood: A Major Role in Cognitive Development and Selective Alteration in Autism}}. {Front Psychiatry};2019;10:122.
The human specific cognitive shift starts around the age of 2 years with the onset of self-awareness, and continues with extraordinary increase in cognitive capacities during early childhood. Diffuse changes in functional connectivity in children aged 2-6 years indicate an increase in the capacity of cortical network. Interestingly, structural network complexity does not increase during this time and, thus, it is likely to be induced by selective maturation of a specific neuronal subclass. Here, we provide an overview of a subclass of cortico-cortical neurons, the associative layer IIIC pyramids of the human prefrontal cortex. Their local axonal collaterals are in control of the prefrontal cortico-cortical output, while their long projections modulate inter-areal processing. In this way, layer IIIC pyramids are the major integrative element of cortical processing, and changes in their connectivity patterns will affect global cortical functioning. Layer IIIC neurons have a unique pattern of dendritic maturation. In contrast to other classes of principal neurons, they undergo an additional phase of extensive dendritic growth during early childhood, and show characteristic molecular changes. Taken together, circuits associated with layer IIIC neurons have the most protracted period of developmental plasticity. This unique feature is advanced but also provides a window of opportunity for pathological events to disrupt normal formation of cognitive circuits involving layer IIIC neurons. In this manuscript, we discuss how disrupted dendritic and axonal maturation of layer IIIC neurons may lead into global cortical disconnectivity, affecting development of complex communication and social abilities. We also propose a model that developmentally dictated incorporation of layer IIIC neurons into maturing cortico-cortical circuits between 2 to 6 years will reveal a previous (perinatal) lesion affecting other classes of principal neurons. This « disclosure » of pre-existing functionally silent lesions of other neuronal classes induced by development of layer IIIC associative neurons, or their direct alteration, could be found in different forms of autism spectrum disorders. Understanding the gene-environment interaction in shaping cognitive microcircuitries may be fundamental for developing rehabilitation and prevention strategies in autism spectrum and other cognitive disorders.
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9. Rankin JA, Paisley CA, Tomeny TS, Eldred SW. {{Fathers of Youth with Autism Spectrum Disorder: A Systematic Review of the Impact of Fathers’ Involvement on Youth, Families, and Intervention}}. {Clin Child Fam Psychol Rev};2019 (Mar 30)
Literature in developmental psychology suggests that mothers and fathers both play unique and important roles in their children’s development. However, research investigating the unique contributions and psychological functioning of fathers of youth with developmental disabilities, and the role that fathers play in effective intervention, remains limited. Whereas evidence suggests that parent-mediated interventions for children with autism spectrum disorder (ASD) can lead to increased engagement from parents, and reduced stress and psychopathology commonly experienced by parents of youth with ASD, these interventions often do not specifically address potential benefits of paternal involvement. This systematic review aimed to understand how often/how commonly research on children with ASD examines the father’s role within the family, how often fathers are targeted directly during intervention efforts, and the impact of increased paternal involvement. This review suggests that fathers of children with ASD are not often included in research on children with ASD, in either their general involvement or in their inclusion in intervention. While studies generally suggest that these fathers may be less involved than mothers in childrearing practices, having both parents highly involved may improve the overall family system across many levels, and fathers may be equally as effective as mothers in implementing intervention strategies. Overall, this review suggests that while often overlooked, fathers of youth with ASD make important contributions to children with ASD and the larger family and should be included in future research on children with ASD.
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10. Sangare M, Toure HB, Toure A, Karembe A, Dolo H, Coulibaly YI, Kouyate M, Traore K, Diakite SA, Coulibaly S, Togora A, Guinto CO, Awandare GA, Doumbia S, Diakite M, Geschwind DH. {{Validation of two parent-reported autism spectrum disorders screening tools M-CHAT-R and SCQ in Bamako, Mali}}. {eNeurologicalSci};2019 (Jun);15:100188.
Background: Early screening is crucial for early autism spectrum disorders (ASD) diagnosis and intervention. ASD screening tools have mostly been constructed based on the Western cultural context. We hypothesized that their use in Mali may require a prior validation. Objective: To validate the modified checklist for autism in toddlers-Revised (M-CHAT-R) and the social communication questionnaire (SCQ) in the Malian sociocultural context for ASD screening. Study design: We administered M-CHAT-R and SCQ in 947 toddlers aged 16-30months old at the district and community health centers in Bamako and 120 patients (60 autistic and 60 age and sex matched controls) aged >/=4years old at the psychiatry department in Bamako. Toddlers at moderate to high risk of ASD underwent M-CHAT-R/F and clinical evaluation by an ASD multidisciplinary team. M-CHAT-R and SCQ were evaluated for cultural appropriateness by Malian anthropologists. The sensitivity, specificity, PPV, NPV were determined for both M-CHAT-R and SCQ. Health professionals have been trained during ASD seminary on how to use M-CHAT-R and SCQ for ASD screening in Bamako. Results: We found for the M-CHAT-R a sensitivity of 50%, a specificity of 100%, a PPV of 100% and a NPV of 87%. The SCQ had a sensitivity of 71%, a specificity of 72%, a PPV of 73% and a NPV of 70%. We have found four out of 20 items on the M-CHAT-R that were culturally inappropriate in the Malian context. Discussion: M-CHAT-R and SCQ can be used for early autism screening in Mali. In the future, we plan to train a descent number of Malian physicians in chief and pediatricians at the district hospitals across the country to integrate the early ASD screening into the national health system. Conclusion: M-CHAT-R has a perfect specificity and SCQ a fair diagnostic accuracy for ASD in Mali.
