1. Bakke KA, Howlin P, Retterstol L, Kanavin OJ, Heiberg A, Naerland T. {{Effect of epilepsy on autism symptoms in Angelman syndrome}}. {Mol Autism}. 2018; 9: 2.
Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate. Angelman syndrome (AS) is presented as a suitable disease model to explore this association. Methods: Data from medical records and questionnaires were used to examine the association between age of epilepsy onset, autism symptoms, genetic aberration and communication level. Forty-eight participants had genetically verified AS (median age 14.5 years; range 1-57 years). A measure of autism symptoms (the Social Communication Questionnaire; SCQ) was completed for 38 individuals aged >/= 4 years. Genetic cause was subgrouped into deletion and other genetic aberrations of the 15q11-q13 area. The number of signs used to communicate (< 20 sign and >/= 20 signs) was used as a measure of nonverbal communication. Results: Mean age of epilepsy onset was 3.0 years (range 3 months-7.8 years). Mean SCQ score for individuals without epilepsy was 13.6 (SD = 6.7) and with epilepsy 17.0 (SD = 5.6; p = 0.17); 58% used fewer than 20 signs to communicate. There were no age differences between groups according to presence of epilepsy, level of nonverbal communication or type of genetic aberration. SCQ scores were higher in individuals with the deletion than in those with other genetic aberrations (18.7 vs 10.8 p = 0.008) and higher in the group who used < 20 signs to communicate (19.4 vs 14.1 p = 0.007). Age of epilepsy onset was correlated with SCQ (r = - 0.61, p < 0.001). Multiple regression showed that age of seizure onset was significantly related to SCQ score (beta = - 0.90; p = 0.006), even when the type of genetic abnormality was controlled (R(2) = 0.53; F = 10.7; p = 0.001). Conclusions: The study provides support for the notion that seizures themselves contribute more to autism symptoms than expected from the underlying genetic pathology alone. The study demonstrates how a rare genetic syndrome such as Angelman syndrome may be used to study the relation between epilepsy and autism symptomatology. Lien vers le texte intégral (Open Access ou abonnement)
2. Caputo G, Ippolito G, Mazzotta M, Sentenza L, Muzio MR, Salzano S, Conson M. {{Effectiveness of a Multisystem Aquatic Therapy for Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2018.
Aquatic therapy improves motor skills of persons with Autism Spectrum Disorders (ASD), but its usefulness for treating functional difficulties needs to be verified yet. We tested effectiveness of a multisystem aquatic therapy on behavioural, emotional, social and swimming skills of children with ASD. Multisystem aquatic therapy was divided in three phases (emotional adaptation, swimming adaptation and social integration) implemented in a 10-months-programme. At post-treatment, the aquatic therapy group showed significant improvements relative to controls on functional adaptation (Vineland Adaptive Behavior Scales), emotional response, adaptation to change and on activity level (Childhood Autism Rating Scale). Swimming skills learning was also demonstrated. Multisystem aquatic therapy is useful for ameliorating functional impairments of children with ASD, going well beyond a swimming training.
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3. Da Paz NS, Siegel B, Coccia MA, Epel ES. {{Acceptance or Despair? Maternal Adjustment to Having a Child Diagnosed with Autism}}. {J Autism Dev Disord}. 2018.
Psychological adjustment to having one’s child diagnosed with an autism spectrum disorder has important implications for a parent’s mental health. In a longitudinal study, we examined the association between maternal adjustment to the diagnosis and measures of distress and well-being in 90 mothers of children with autism (baseline and 18 months). We used a novel 30-item scale « Adjustment to the Diagnosis of Autism. » Factor analysis identified three dimensions of adjustment: acceptance, self-blame, and despair. Acceptance appeared to be a protective response, as it was associated with lower depressive symptoms, cross-sectionally and over time. Conversely, caregivers with increasing levels of self-blame and despair about the diagnosis over 18 months had worsening of mental health and satisfaction with life during this period.
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4. Flippin M, Watson LR. {{Parental Broad Autism Phenotype and the Language Skills of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Father-child and mother-child interactions were examined in order to investigate concurrent associations between three characteristics of parental broad autism phenotype (i.e., aloofness, rigidity, pragmatic language deficits), parental verbal responsiveness, and language skills of children with ASD. Results for mothers indicated that aloofness and rigidity were negatively associated with both child-initiated engagement and child language skills. Maternal aloofness was also negatively correlated with verbal responsiveness to their children, but rigidity was not. Results suggest that the association between aloofness and child language are potentially mediated by maternal use of responsive verbal behaviors. Maternal pragmatic language deficits were not concurrently related to child-initiated engagement or language skills. In contrast, for fathers, aloofness and rigidity were unrelated to child-initiated engagement and language skills. Paternal pragmatic deficits were also not associated with child language, however significant positive associations were found between paternal pragmatic language deficits and frequency of child-initiated engagement. Results are discussed in reference to potential clinical implications and directions for future research.
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5. Gladysz D, Krzywdzinska A, Hozyasz KK. {{Immune Abnormalities in Autism Spectrum Disorder-Could They Hold Promise for Causative Treatment?}}. {Mol Neurobiol}. 2018.
Autism spectrum disorders (ASD) are characterized by impairments in language and communication development, social behavior, and the occurrence of stereotypic patterns of behavior and interests. Despite substantial speculation about causes of ASD, its exact etiology remains unknown. Recent studies highlight a link between immune dysfunction and behavioral traits. Various immune anomalies, including humoral and cellular immunity along with abnormalities at the molecular level, have been reported. There is evidence of altered immune function both in cerebrospinal fluid and peripheral blood. Several studies hypothesize a role for neuroinflammation in ASD and are supported by brain tissue and cerebrospinal fluid analysis, as well as evidence of microglial activation. It has been shown that immune abnormalities occur in a substantial number of individuals with ASD. Identifying subgroups with immune system dysregulation and linking specific cellular immunophenotypes to different symptoms would be key to defining a group of patients with immune abnormalities as a major etiology underlying behavioral symptoms. These determinations would provide the opportunity to investigate causative treatments for a defined patient group that may specifically benefit from such an approach. This review summarizes recent insights into immune system dysfunction in individuals with ASD and discusses the potential implications for future therapies.
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6. Grootscholten IAC, van Wijngaarden B, Kan CC. {{High Functioning Autism Spectrum Disorders in Adults: Consequences for Primary Caregivers Compared to Schizophrenia and Depression}}. {J Autism Dev Disord}. 2018.
Primary caregivers experience consequences from being in close contact to a person with autism spectrum disorder (ASD). This study used the Involvement Evaluation Questionnaire to explore the level of consequences of 104 caregivers involved with adults with High Functioning ASD (HF-ASD) and compared these with the consequences reported by caregivers of patients suffering from depression and schizophrenia. Caregivers involved with adults with an HF-ASD experience overall consequences comparable to those involved with patients with depression or schizophrenia. Worrying was the most reported consequence. More tension was experienced by the caregivers of ASD patients, especially by spouses. More care and attention for spouses of adults with an HF-ASD appears to be needed.
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7. Hassan M, Simpson A, Danaher K, Haesen J, Makela T, Thomson K. {{An Evaluation of Behavioral Skills Training for Teaching Caregivers How to Support Social Skill Development in Their Child with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Limited research has explored how to best train caregivers to support their child with autism spectrum disorder (ASD) despite caregivers being well suited to promote generalization and maintenance of their child’s skills in the natural environment. Children with ASD have been shown to benefit from social skill training, which is not always conducted in the natural context. This research examined the efficacy of behavioral skills training (BST) with, and without in situ training (IST), for teaching caregivers how to also use BST to support their child’s context-specific social skills. Although caregivers met mastery criterion within BST sessions, their skills did not generalize to the natural environment until IST was introduced. The implications of the findings are discussed.
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8. Klein-Tasman BP, Mervis CB. {{Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome}}. {J Autism Dev Disord}. 2018.
Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. (Neuron 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed.
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9. Lindsey RA, Barry TD. {{Protective Factors Against Distress for Caregivers of a Child with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Caregivers of a child with autism spectrum disorder (ASD) often experience elevated distress. The current study examined potential protective factors against caregiver distress when child externalizing and internalizing behaviors are present: family resources, perceived social support, parenting efficacy, knowledge of ASD, and the agreement between actual and perceived knowledge of ASD. Caregivers of a child with ASD completed an online questionnaire. Results demonstrated main effects for externalizing behavior, family resources, and perceived social support. Significant interactions were found among parenting efficacy and internalizing behavior, and the agreement between actual and perceived knowledge with both externalizing and internalizing behaviors. Results indicate important factors that should be emphasized when working with families of a child with ASD.
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10. Moseley RL, Pulvermuller F. {{What can autism teach us about the role of sensorimotor systems in higher cognition? New clues from studies on language, action semantics, and abstract emotional concept processing}}. {Cortex}. 2017.
Within the neurocognitive literature there is much debate about the role of the motor system in language, social communication and conceptual processing. We suggest, here, that autism spectrum conditions (ASC) may afford an excellent test case for investigating and evaluating contemporary neurocognitive models, most notably a neurobiological theory of action perception integration where widely-distributed cell assemblies linking neurons in action and perceptual brain regions act as the building blocks of many higher cognitive functions. We review a literature of functional motor abnormalities in ASC, following this with discussion of their neural correlates and aberrancies in language development, explaining how these might arise with reference to the typical formation of cell assemblies linking action and perceptual brain regions. This model gives rise to clear hypotheses regarding language comprehension, and we highlight a recent set of studies reporting differences in brain activation and behaviour in the processing of action-related and abstract-emotional concepts in individuals with ASC. At the neuroanatomical level, we discuss structural differences in long-distance frontotemporal and frontoparietal connections in ASC, such as would compromise information transfer between sensory and motor regions. This neurobiological model of action perception integration may shed light on the cognitive and social-interactive symptoms of ASC, building on and extending earlier proposals linking autistic symptomatology to motor disorder and dysfunction in action perception integration. Further investigating the contribution of motor dysfunction to higher cognitive and social impairment, we suggest, is timely and promising as it may advance both neurocognitive theory and the development of new clinical interventions for this population and others characterised by early and pervasive motor disruption.
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11. Nag HE, Nordgren A, Anderlid BM, Naerland T. {{Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome}}. {Mol Autism}. 2018; 9: 1.
Background: A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2 or a mutation on the retinoic acid induced 1 gene. The disorder is characterised by intellectual disability, multiple congenital anomalies, obesity, neurobehavioural abnormalities and a disrupted circadian sleep-wake pattern. Methods: Parents of 28 persons with SMS between 5 and 50 years old participated in this study. A total of 12 of the persons with SMS were above the age of 18 at the time of the study. A total of 11 came from Sweden and 17 were from Norway.We collected information regarding the number of autism spectrum symptoms using the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS). Adaptive behaviour was also measured using the Vineland Adaptive Behavior Scale II. The level of intellectual disability was derived from a review of the medical chart. Results: We found significant gender differences in ASD symptomatology using the SCQ and SRS questionnaires. We found approximately three females per male above the SCQ cutoff. The same differences were not found in the intellectual level and adaptive behaviour or for behavioural and emotional problems.Gender had an independent contribution in a regression model predicting the total SCQ score, and neither the Vineland Adaptive Behavior Scale II nor the Developmental Behaviour Checklist had an independent contribution to the SCQ scores. Conclusion: We found a clear reversed gender difference in ASD symptomatology in persons with SMS. This may be relevant in the search for female protective factors assumed to explain the male bias in ASD.
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12. Ogata H, Ihara H, Gito M, Sayama M, Murakami N, Ayabe T, Oto Y, Nagai T, Shimoda K. {{Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults}}. {Res Dev Disabil}. 2018; 73: 126-34.
This study aims to explore the differences of age as well as genotype in regards to the severity of behavioral symptoms in Prader-Willi syndrome (PWS), with emphasis on the comparison between youngadults and adults.The Food Related Problem Questionnaire (FRPQ), the Aberrant Behavior Checklist Japanese Version (ABC-J), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 46 PWS patients, including 33 young adults (ages 18-28) and 13 adults(ages 30-45). To examine the differences between young adults and adults, Mann-Whitney U tests were conducted. Statistically significant differences were found in ABC-J (p=.027) and PARS (p=.046), with higher scores in young adults than adults. Such differences between the two age groups were still true for the subgroups having a paternal chromosome 15q deletion (DEL) for ABC-J (p=.050) and part of PARS (« Problematic behavior »; p=.007). By contrast, there was no significant differences between young adults and adults regarding FRPQ (p=.65).These results suggest that aberrant behaviors decline from around the ages of thirty, in PWS patients in general and in DEL subgroups in particular, while food-related behaviors give no indication of diminishing in spite of developmental growth.
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13. Otto-Meyer S, Krizman J, White-Schwoch T, Kraus N. {{Children with autism spectrum disorder have unstable neural responses to sound}}. {Experimental brain research}. 2018.
Autism spectrum disorder (ASD) is diverse, manifesting in a wide array of phenotypes. However, a consistent theme is reduced communicative and social abilities. Auditory processing deficits have been shown in individuals with ASD-these deficits may play a role in the communication difficulties ASD individuals experience. Specifically, children with ASD have delayed neural timing and poorer tracking of a changing pitch relative to their typically developing peers. Given that accurate processing of sound requires highly coordinated and consistent neural activity, we hypothesized that these auditory processing deficits stem from a failure to respond to sound in a consistent manner. Therefore, we predicted that individuals with ASD have reduced neural stability in response to sound. We recorded the frequency-following response (FFR), an evoked response that mirrors the acoustic features of its stimulus, of high-functioning children with ASD age 7-13 years. Evident across multiple speech stimuli, children with ASD have less stable FFRs to speech sounds relative to their typically developing peers. This reduced auditory stability could contribute to the language and communication profiles observed in individuals with ASD.
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14. Whitten A, Unruh KE, Shafer RL, Bodfish JW. {{Subgrouping Autism Based on Symptom Severity Leads to Differences in the Degree of Convergence Between Core Feature Domains}}. {J Autism Dev Disord}. 2018.
Existing models of autism spectrum disorder (ASD) disagree as to whether the core features should be conceptualized as convergent (related) or divergent (unrelated), and the few previous studies addressing this question have found conflicting results. We examined standardized parent ratings of symptoms from three domains (social, communication, repetitive behaviors) in large samples of typically developing children, children with ASD, and ASD subgroups. Our results suggest that the most evidence for divergence lies in typically developing children and lower severity ASD cases, while more evidence for convergence is found in a subset of cases with more severe impairment on any core feature. These results highlight the importance of subgrouping ASD given the degree of phenotypic heterogeneity present across the autism spectrum.
