1. Adams J, Howsmon DP, Kruger U, Geis E, Gehn E, Fimbres V, Pollard E, Mitchell J, Ingram J, Hellmers R, Quig D, Hahn J. {{Significant Association of Urinary Toxic Metals and Autism-Related Symptoms-A Nonlinear Statistical Analysis with Cross Validation}}. {PLoS One}. 2017; 12(1): e0169526.
INTRODUCTION: A number of previous studies examined a possible association of toxic metals and autism, and over half of those studies suggest that toxic metal levels are different in individuals with Autism Spectrum Disorders (ASD). Additionally, several studies found that those levels correlate with the severity of ASD. METHODS: In order to further investigate these points, this paper performs the most detailed statistical analysis to date of a data set in this field. First morning urine samples were collected from 67 children and adults with ASD and 50 neurotypical controls of similar age and gender. The samples were analyzed to determine the levels of 10 urinary toxic metals (UTM). Autism-related symptoms were assessed with eleven behavioral measures. Statistical analysis was used to distinguish participants on the ASD spectrum and neurotypical participants based upon the UTM data alone. The analysis also included examining the association of autism severity with toxic metal excretion data using linear and nonlinear analysis. « Leave-one-out » cross-validation was used to ensure statistical independence of results. RESULTS AND DISCUSSION: Average excretion levels of several toxic metals (lead, tin, thallium, antimony) were significantly higher in the ASD group. However, ASD classification using univariate statistics proved difficult due to large variability, but nonlinear multivariate statistical analysis significantly improved ASD classification with Type I/II errors of 15% and 18%, respectively. These results clearly indicate that the urinary toxic metal excretion profiles of participants in the ASD group were significantly different from those of the neurotypical participants. Similarly, nonlinear methods determined a significantly stronger association between the behavioral measures and toxic metal excretion. The association was strongest for the Aberrant Behavior Checklist (including subscales on Irritability, Stereotypy, Hyperactivity, and Inappropriate Speech), but significant associations were found for UTM with all eleven autism-related assessments with cross-validation R2 values ranging from 0.12-0.48.
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2. Asberg Johnels J, Gillberg C, Kopp S. {{A Hyperlexic-Like Reading Style Is Associated With Increased Autistic Features in Girls With ADHD}}. {J Atten Disord}. 2017: 1087054716685838.
OBJECTIVE: Hyperlexic-like reading (defined as word decoding much better than comprehension) has been associated with autism spectrum disorder (ASD). Here we study correlates of a hyperlexic-like reading style (HPL) in ADHD, a condition known to co-occur both with reading difficulties and ASD. METHOD: We compared 10 girls with an ADHD diagnosis plus HPL with 26 with ADHD minus HPL. RESULTS: Girls with HPL scored marginally lower in reading comprehension but did not differ from non-HPL girls in IQ, vocabulary, or in the severity of ADHD ratings. However, in addition to scoring much better on word decoding, HPL readers also displayed higher levels of social-communication deficits on the ADOS-G and the ADI-R. Moreover, correlation analysis in the full sample revealed an association between increasing autistic features and word reading. CONCLUSION: The study underscores the heterogeneity of reading skills in ADHD, and shows the relevance of subclinic autistic features for understanding this variability.
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3. Bishop HJ, Biasini FJ, Stavrinos D. {{Social and Non-social Hazard Response in Drivers with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Driving is a complex task that relies on manual, cognitive, visual and social skill. The social demands of driving may be challenging for individuals with Autism Spectrum Disorder (ASD) due to known social impairments. This study investigated how drivers with ASD respond to social (e.g., pedestrians) and non-social (e.g., vehicles) hazards in a driving simulator compared to typically developing drivers. Overall, participants responded faster to social hazards than non-social hazards. It was also found that drivers with typical development reacted faster to social hazards, while drivers with ASD showed no difference in reaction time to social versus non-social hazards. Future work should further investigate how social impairments in ASD may affect driving safety.
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4. Cellot G, Maggi L, Castro MA, Catalano M, Migliore R, Migliore M, Scattoni ML, Calamandrei G, Cherubini E. {{Corrigendum: Premature changes in neuronal excitability account for hippocampal network impairment and autistic-like behavior in neonatal BTBR T+tf/J mice}}. {Sci Rep}. 2017; 7: 39726.
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5. Gadow KD, Perlman G, Weber RJ. {{Parent-Reported Developmental Regression in Autism: Epilepsy, IQ, Schizophrenia Spectrum Symptoms, and Special Education}}. {J Autism Dev Disord}. 2017.
Examined the psychiatric and clinical correlates of loss of previously acquired skills (regression) as reported by parents of youth with autism spectrum disorder (ASD). Study sample comprised 6- to 18-year old (N = 213) children and adolescents with ASD. Parents reported regression in 77 (36%) youth. A more homogeneous subgroup with regression between 18 and 36 months (n = 48) had higher rates of intellectual disability, epilepsy, and special education, more socially restrictive educational settings, and more severe ASD communication deficits and schizophrenia spectrum symptoms than non-regressed youth (n = 136). Similar results were obtained for a more inclusive definition of regression (n = 77). A brief parent report of developmental regression may be a useful clinical indicator of later general functioning.
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6. Grandgeorge M, Masataka N. {{Atypical Color Preference in Children with Autism Spectrum Disorder}}. {Front Psychol}. 2016; 7: 1976.
So far, virtually no study has ever investigated color preference in children with autism spectrum disorder (ASD). In order to address this issue, 29 boys with ASD varying in age between 4 and 17 years, and 38 age-matched typically developing (TD) boys were studied regarding their preference among six colors: red, pink, yellow, brown, green, and blue, in clinical settings. When mean rank of preference was computed in each of the ASD and TD groups with regard to each color, it was found that boys with ASD were significantly less likely than TD boys to prefer yellow and more likely than TD boys to prefer green and brown colors. These results appear to be caused by hyper-sensation characteristic of ASD, due to which boys with this disorder perceive yellow as being sensory-overloading.
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7. Harris JC. {{Advances in developmental neuropsychiatry: autism spectrum disorder, Cornelia De Lange syndrome, self-injurious behavior, Down syndrome, fetal alcohol spectrum disorder, and borderline intellectual functioning}}. {Curr Opin Psychiatry}. 2017.
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8. Howlin P, Magiati I. {{Autism spectrum disorder: outcomes in adulthood}}. {Curr Opin Psychiatry}. 2017.
PURPOSE OF REVIEW: Until recently, there has been little systematic study of adult life among individuals with autism spectrum disorder (ASD) but recognition of the high psychological and social costs of ASD has led to an increase in adult-focused research over the past decade. The aim of this review is to summarize recent empirical findings on outcomes for adults with ASD. RECENT FINDINGS: Most research on adult outcomes in ASD indicates very limited social integration, poor job prospects and high rates of mental health problems. However, studies vary widely in their methodology, choice of measures and selection of participants. Thus, estimates of how many adults have significant social and mental health problems are often conflicting. There is little consistent information on the individual, familial or wider social factors that may facilitate more positive social and psychological outcomes. There is a particular dearth of research on older individuals with ASD. SUMMARY: The very variable findings reported in this review reflect the problems of conducting research into lifetime outcomes for individuals with a condition as heterogeneous as ASD. Much more systematic research is needed to delineate different patterns of development in adulthood and to determine the factors influencing these trajectories.
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9. Kim E, Kyeong S, Cheon KA, Park B, Oh MK, Chun JW, Park HJ, Kim JJ, Song DH. {{Corrigendum to « Neural responses to affective and cognitive theory of mind in children and adolescents with autism spectrum disorder » [Neurosci. Lett. 621 (2016) 117-125]}}. {Neurosci Lett}. 2017; 637: 215.
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10. Lyall K, Croen L, Daniels J, Fallin MD, Ladd-Acosta C, Lee BK, Park BY, Snyder NW, Schendel D, Volk HE, Windham GC, Newschaffer C. {{The Changing Epidemiology of Autism Spectrum Disorders}}. {Annu Rev Public Health}. 2016.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Research on ASD epidemiology has made significant advances in the past decade. Current prevalence is estimated to be at least 1.5% in developed countries, with recent increases primarily among those without comorbid intellectual disability. Genetic studies have identified a number of rare de novo mutations and gained footing in the areas of polygenic risk, epigenetics, and gene-by-environment interaction.Epidemiologic investigations focused on nongenetic factors have established advanced parental age and preterm birth as ASD risk factors, indicated that prenatal exposure to air pollution and short interpregnancy interval are potential risk factors, and suggested the need for further exploration of certain prenatal nutrients, metabolic conditions, and exposure to endocrine-disrupting chemicals. We discuss future challenges and goals for ASD epidemiology as well as public health implications. Expected final online publication date for the Annual Review of Public Health Volume 38 is March 20, 2017. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
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11. Meguid NA, Anwar M, Bjorklund G, Hashish A, Chirumbolo S, Hemimi M, Sultan E. {{Dietary adequacy of Egyptian children with autism spectrum disorder compared to healthy developing children}}. {Metab Brain Dis}. 2017.
Although the etiology and pathology of autism spectrum disorder (ASD) is still poorly understood, a number of environmental, anthropological, neurobiological and genetic factors have been related to the pathophysiology of ASD, even the impact of oxidative stress response related to the environment and nutrition intake. Usual recommended dietary habits are based on the combination of behavioral and dietary or nutraceutical interventions together with pharmacotherapy. Investigations about a reliable relationship between diet and ASD are still lacking. The present study aimed at comparing dietary regimens and habits of normally developing apparently healthy children, without diagnosed ASD, with a pediatric population of individuals affected by autistic disorder. Assessments of nutritional and anthropometric data, in addition to biochemical evaluation for nutrient deficiencies, were performed. A total of 80 children with autistic disorder and 80 healthy, normally developing pediatric individuals were enrolled in the study. Parents were asked to complete the standardized questionnaire regarding the different types of food and the proportion of a serving for their children. Biochemical analysis of micro- and macronutrients were also done. Plotting on the Egyptian sex-specific anthropometric growth (auximetric) chart, absolute weights as well as weight-related for age classes, were significantly higher in cases than healthy controls. No differences between groups were observed in regard to total kilocalories (kcal), carbohydrates, and fat intake. A total of 23.8% of children with autistic disorder vs. 11.3% in the healthy control group had a nutrient intake with features below the Recommended Dietary Allowance (RDA) of protein. Children with autistic disorder showed low dietary intake of some micronutrients; calcium (Ca), magnesium (Mg), iron (Fe), selenium (Se) and sodium (Na), also they had significantly high intake of potassium (K) and vitamin C compared to healthy controls. Serum Mg, Fe, Ca, folate and vitamin B12 in children with autistic disorder were significantly low compared with healthy children. Significant positive correlations between serum Mg, Fe, Ca, vitamin B12 and folate and their levels in food were present. These results confirmed that different nutritional inadequacy was observed in Egyptian children with autistic disorder. The evidence reported in the present study should recommend screening of the nutritional status of ASD children for nutrient adequacy to reduce these deficiencies by dietary means or by administering appropriate vitamin and mineral supplements. Nutritional intervention plan should be tailored to address specific needs.
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12. Mertens J, Zane ER, Neumeyer K, Grossman RB. {{How Anxious Do You Think I Am? Relationship Between State and Trait Anxiety in Children With and Without ASD During Social Tasks}}. {J Autism Dev Disord}. 2017.
Individuals with autism spectrum disorder (ASD) often exhibit increased anxiety, even in non-stressful situations. We investigate general anxiousness (anxiety trait) and responses to stressful situations (anxiety state) in 22 adolescents with ASD and 32 typically developing controls. We measured trait anxiety with standardized self- and parent-reported questionnaires. We used a Biopac system to capture state anxiety via skin conductance responses, mean heart rate and heart rate variability during high- and low-anxiety tasks. Results reveal higher trait anxiety in adolescents with ASD (p < 0.05) and no group difference in state anxiety. Increased parent-reported trait anxiety may predict decreased state anxiety during high-stress conditions. Together, these findings suggest that higher trait anxiety may result in dampened physical responses to stress. Lien vers le texte intégral (Open Access ou abonnement)
13. Naaijen J, Bralten J, Poelmans G, Glennon JC, Franke B, Buitelaar JK. {{Glutamatergic and GABAergic gene sets in attention-deficit/hyperactivity disorder: association to overlapping traits in ADHD and autism}}. {Transl Psychiatry}. 2017; 7(1): e999.
Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD) often co-occur. Both are highly heritable; however, it has been difficult to discover genetic risk variants. Glutamate and GABA are main excitatory and inhibitory neurotransmitters in the brain; their balance is essential for proper brain development and functioning. In this study we investigated the role of glutamate and GABA genetics in ADHD severity, autism symptom severity and inhibitory performance, based on gene set analysis, an approach to investigate multiple genetic variants simultaneously. Common variants within glutamatergic and GABAergic genes were investigated using the MAGMA software in an ADHD case-only sample (n=931), in which we assessed ASD symptoms and response inhibition on a Stop task. Gene set analysis for ADHD symptom severity, divided into inattention and hyperactivity/impulsivity symptoms, autism symptom severity and inhibition were performed using principal component regression analyses. Subsequently, gene-wide association analyses were performed. The glutamate gene set showed an association with severity of hyperactivity/impulsivity (P=0.009), which was robust to correcting for genome-wide association levels. The GABA gene set showed nominally significant association with inhibition (P=0.04), but this did not survive correction for multiple comparisons. None of single gene or single variant associations was significant on their own. By analyzing multiple genetic variants within candidate gene sets together, we were able to find genetic associations supporting the involvement of excitatory and inhibitory neurotransmitter systems in ADHD and ASD symptom severity in ADHD.
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14. Nilchian F, Shakibaei F, Jarah ZT. {{Evaluation of Visual Pedagogy in Dental Check-ups and Preventive Practices Among 6-12-Year-Old Children with Autism}}. {J Autism Dev Disord}. 2017.
This study was aimed to evaluate the impact of visual pedagogy in dental check-ups and preventive practices among children with autism aged 6-12. In this randomized double-blind clinical trial, the cooperation of 40 children with autism age 6-12. The selected children were equally divided into two groups of case and control (n = 20). The obtained data were analyzed by statistical tests, including Chi square and independent t test. The results of Cochran showed a significant increase in children’s cooperation with regard to fluoride therapy in the case group by repeating the visit and training sessions (p = 0.001). The findings of this study demonstrated, visual pedagogy was merely effective in the case of fluoride therapy in the case group. Lien vers le texte intégral (Open Access ou abonnement)
15. Rodriguez-Medina J, Martin-Anton LJ, Carbonero MA, Ovejero A. {{Peer-Mediated Intervention for the Development of Social Interaction Skills in High-Functioning Autism Spectrum Disorder: A Pilot Study}}. {Front Psychol}. 2016; 7: 1986.
Autism Spectrum Disorder (ASD) is characterized by difficulties with social interaction and communication, which manifest at school especially in less structured situations such as recess. Recess provides opportunities for relationship with peers in a natural context, for which students with ASD may not be equipped with the necessary skills to use without support. Using a single-case design, we evaluated an intervention applied in recess to improve the social interaction skills of a student with high-functioning ASD mediated by his peers without ASD, in second grade of elementary school. This intervention includes different strategies to initiate the peers without ASD, using direct instruction, modeling, and social reinforcement carried out in the recess setting. After 14 sessions, changes were observed in the rates of initiating and responding to interactions, and a negative trend in the percentage of time that the student maintained low-intensity interactions or was alone. Teachers and family perceived improvements in social skills, more peer acceptance, and increase in the frequency and duration of social interactions. This intervention can help teachers to apply research-based practices to improve some social interaction skills in high-functioning students with autism in inclusive school environments.
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16. Scharkowski F, Frotscher M, Lutz D, Korte M, Michaelsen-Preusse K. {{Altered Connectivity and Synapse Maturation of the Hippocampal Mossy Fiber Pathway in a Mouse Model of the Fragile X Syndrome}}. {Cereb Cortex}. 2017.
The Fragile X syndrome (FXS) as the most common monogenetic cause of cognitive impairment and autism indicates how tightly the dysregulation of synapse development is linked to cognitive deficits. Symptoms of FXS include excessive adherence to patterns that point to compromised hippocampal network formation. Surprisingly, one of the most complex hippocampal synapses connecting the dentate gyrus (DG) to CA3 pyramidal neurons has not been analyzed in FXS yet. Intriguingly, we found altered synaptic function between DG and CA3 in a mouse model of FXS (fmr1 knockout [KO]) demonstrated by increased mossy fiber-dependent miniature excitatory postsynaptic current (mEPSC) frequency at CA3 pyramidal neurons together with increased connectivity between granule cells and CA3 neurons. This phenotype is accompanied by increased activity of fmr1 KO animals in the marble burying task, detecting repetitive and obsessive compulsive behavior. Spine apparatus development and insertion of AMPA receptors is enhanced at postsynaptic thorny excrescences (TEs) in fmr1 KO mice. We report age-dependent alterations in TE morphology and in the underlying actin dynamics possibly linked to a dysregulation in profilin1 expression. TEs form detonator synapses guiding CA3 network activity. Thus, alterations described here are likely to contribute substantially to the impairment in hippocampal function and therefore to the pathogenesis of FXS.
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17. Schwartz S, Kessler R, Gaughan T, Buckley AW. {{Electroencephalogram Coherence Patterns in Autism: An Updated Review}}. {Pediatr Neurol}. 2016.
Electrophysiologic studies suggest that autism spectrum disorder is characterized by aberrant anatomic and functional neural circuitry. During normal brain development, pruning and synaptogenesis facilitate ongoing changes in both short- and long-range neural wiring. In developmental disorders such as autism, this process may be perturbed and lead to abnormal neural connectivity. Careful analysis of electrophysiologic connectivity patterns using EEG coherence may provide a way to probe the resulting differences in neurological function between people with and without autism. There is general consensus that electroencephalogram coherence patterns differ between individuals with and without autism spectrum disorders; however, the exact nature of the differences and their clinical significance remain unclear. Here we review recent literature comparing electroencephalogram coherence patterns between patients with autism spectrum disorders or at high risk for autism and their nonautistic or low-risk for autism peers.
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18. Sellier C, Buijsen RA, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N. {{Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome}}. {Neuron}. 2017.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5′ UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequesters specific proteins, and translation of CGG repeats into a polyglycine-containing protein, FMRpolyG. Here we developed transgenic mice expressing CGG repeat RNA with or without FMRpolyG. Expression of FMRpolyG is pathogenic, while the sole expression of CGG RNA is not. FMRpolyG interacts with the nuclear lamina protein LAP2beta and disorganizes the nuclear lamina architecture in neurons differentiated from FXTAS iPS cells. Finally, expression of LAP2beta rescues neuronal death induced by FMRpolyG. Overall, these results suggest that translation of expanded CGG repeats into FMRpolyG alters nuclear lamina architecture and drives pathogenesis in FXTAS.
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19. Stanish HI, Curtin C, Must A, Phillips S, Maslin M, Bandini LG. {{Physical Activity Levels, Frequency, and Type Among Adolescents with and Without Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
We compared time spent in moderate and vigorous physical activity (MVPA), type, and frequency of participation in physical activities between adolescents with ASD (n = 35) and typically developing (TD) adolescents (n = 60). Accelerometers measured MVPA and participants were interviewed about engagement in physical activities. Adolescents with ASD spent less time in MVPA compared to TD adolescents (29 min/day vs. 50 min/day, p < 0.001) and fewer met the Physical Activity Guidelines for Americans (14 vs. 29%, p > 0.05). Among adolescents <16 years old, those with ASD participated in fewer activities than TD adolescents (5.3 vs. 7.1 activities, p < 0.03). Walking/hiking and active video gaming were among the top activities for both groups. Findings support the need for interventions that meet the needs of youth with ASD. Lien vers le texte intégral (Open Access ou abonnement)
20. Thurman AJ, McDuffie A, Hagerman RJ, Josol CK, Abbeduto L. {{Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Despite the similarities observed between the fragile X syndrome (FXS) and autism spectrum disorder (ASD) phenotypes, few studies have compared their behavioral profiles outside of ASD symptomatology. In the present study, we sought to compare lexical and grammatical abilities in these two conditions. Comparisons of language abilities in both of these conditions are particularly interesting because both conditions are characterized by difficulties navigating social interactions. Results suggest that although both FXS and ASD are associated with language difficulties, there are important differences between the two conditions in terms of the language profiles observed and the factors influencing language when considering children of similar developmental levels. Theoretical implications are discussed.
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21. Unruh KE, Sasson NJ, Shafer RL, Whitten A, Miller SJ, Turner-Brown L, Bodfish JW. {{Social Orienting and Attention Is Influenced by the Presence of Competing Nonsocial Information in Adolescents with Autism}}. {Front Neurosci}. 2016; 10: 586.
Background: Our experiences with the world play a critical role in neural and behavioral development. Children with autism spectrum disorder (ASD) spend a disproportionate amount of time seeking out, attending to, and engaging with aspects of their environment that are largely nonsocial in nature. In this study we adapted an established method for eliciting and quantifying aspects of visual choice behavior related to preference to test the hypothesis that preference for nonsocial sources of stimulation diminishes orientation and attention to social sources of stimulation in children with ASD. Method: Preferential viewing tasks can serve as objective measures of preference, with a greater proportion of viewing time to one item indicative of increased preference. The current task used gaze-tracking technology to examine patterns of visual orientation and attention to stimulus pairs that varied in social (faces) and nonsocial content (high autism interest or low autism interest). Participants included both adolescents diagnosed with ASD and typically developing; groups were matched on IQ and gender. Results: Repeated measures ANOVA revealed that individuals with ASD had a significantly greater latency to first fixate on social images when this image was paired with a high autism interest image, compared to a low autism interest image pairing. Participants with ASD showed greater total look time to objects, while typically developing participants preferred to look at faces. Groups also differed in number and average duration of fixations to social and object images. In the ASD group only, a measure of nonsocial interest was associated with reduced preference for social images when paired with high autism interest images. Conclusions: In ASD, the presence of nonsocial sources of stimulation can significantly increase the latency of look time to social sources of information. These results suggest that atypicalities in social motivation in ASD may be context-dependent, with a greater degree of plasticity than is assumed by existing social motivation accounts of ASD.
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22. Warren SF, Brady N, Fleming KK, Hahn LJ. {{The Longitudinal Effects of Parenting on Adaptive Behavior in Children with Fragile X Syndrome}}. {J Autism Dev Disord}. 2017.
Several studies have reported declines in adaptive behavior amongst children with fragile X syndrome (FXS) starting in middle childhood. We examined the effects of maternal responsivity on adaptive behavior in 55 children with FXS visited 5-6 times in their homes from early through middle childhood. Our analyses indicated that sustained maternal responsivity had a significant positive impact on the trajectories of communication and to a lesser extent other adaptive behavior domains through middle childhood with many effects remaining significant after controlling for autism symptoms and developmental level. For children who showed declines in adaptive behavior during middle childhood, sustained high levels of maternal responsivity minimized the amount of decline observed in the communication, socialization, and daily living domains.