1. Blanche EI, Chang MC, Gutierrez J, Gunter JS. {{Effectiveness of a Sensory-Enriched Early Intervention Group Program for Children With Developmental Disabilities}}. {Am J Occup Ther}. 2016; 70(5): 7005220010p1-8.
OBJECTIVE: The study’s objective was to evaluate the effectiveness of the Interdisciplinary Sensory-Enriched Early Intervention (ISEEI) group program for children with developmental delays. METHOD: We conducted a retrospective chart review of 63 children ages 18-36 mo who participated in ISEEI. We evaluated participants with the Bayley Scales of Infant and Toddler Development III (Bayley-III) and the Infant/Toddler Sensory Profile (ITSP) at enrollment and after 3-9 mo. We conducted a paired t test to examine changes in the Bayley-III between pre- and posttests. RESULTS: At enrollment, 70% of children presented atypical scores in two or more areas of sensory processing in the ITSP. Results revealed that children with sensory processing difficulties demonstrated significant improvement in all areas of development except fine motor skills; children without sensory processing difficulties showed significant improvement in language and cognition. CONCLUSION: The ISEEI group program is an effective method to ameliorate developmental delays.
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2. Bulkeley K, Bundy A, Roberts J, Einfeld S. {{Family-Centered Management of Sensory Challenges of Children With Autism: Single-Case Experimental Design}}. {Am J Occup Ther}. 2016; 70(5): 7005220040p1-8.
We explored the effectiveness of a sensory-based, family-centered coaching approach to changing problematic routines for young children with autism. Three mothers of young children with autism, atypical sensory processing, and global developmental delay each participated in a single-case experimental ABA design study. Mothers selected a problematic daily routine linked to sensory challenges as the focus of four intervention sessions provided in the home. Changes in mothers’ perceptions of the children’s behavior were the primary outcome, measured daily on a visual analog scale. Visual and descriptive analyses were undertaken. The sensory-based, family-centered coaching approach showed promise for changing sensory-related problem behaviors of young children with autism, but the degree and maintenance of the intervention effect varied among participants.
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3. Dehaqani MR, Zarei MA, Vahabie AH, Esteky H. {{Impairment of perceptual closure in autism for vertex- but not edge-defined object images}}. {J Vis}. 2016; 16(10): 10.
One of the characteristics of autism spectrum disorder (ASD) is atypical sensory processing and perceptual integration. Here, we used an object naming task to test the significance of deletion of vertices versus extended contours (edges) in naming fragmented line drawings of natural objects in typically developing and ASD children. The basic components of a fragmented image in perceptual closure need to be integrated to make a coherent visual perception. When vertices were missing and only edges were visible, typically developing and ASD subjects performed similarly. But typically developing children performed significantly better than ASD children when only vertex information was visible. These results indicate impairment of binding vertices but not edges to form a holistic representation of an object in children with ASD.
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4. Jeste SS, Varcin KJ, Hellemann GS, Gulsrud AC, Bhatt R, Kasari C, Wu JY, Sahin M, Nelson CA, 3rd. {{Symptom profiles of autism spectrum disorder in tuberous sclerosis complex}}. {Neurology}. 2016; 87(8): 766-72.
OBJECTIVE: To determine the extent to which deficits associated with autism spectrum disorder (ASD) in toddlers with tuberous sclerosis complex (TSC) overlap with those in toddlers with nonsyndromic ASD (nsASD) and to examine cognitive function and epilepsy severity in toddlers with TSC and comorbid ASD. This is the endpoint analysis from a longitudinal investigation of ASD risk factors in children with TSC. METHODS: Measures included the Autism Diagnostic Observation Schedule (ADOS), the Mullen Scales of Early Learning, and clinical epilepsy variables. A repeated-measures analysis of variance was performed with between-subjects factor of group (typically developing, TSC/no ASD, TSC/ASD, nsASD) and within-subjects factors of individual ADOS item scores in the social communication and repetitive behavior/restricted interest domains. Within the TSC group, comparisons of epilepsy characteristics and cognitive domains were performed using independent-samples t tests. RESULTS: Children with TSC/ASD demonstrated a profile of social communication impairment that had complete convergence with nsASD. Measured social communication impairments included gestures, pointing, eye contact, responsive social smile, and shared enjoyment. This convergence was observed despite the high comorbidity between ASD and cognitive impairment in TSC. CONCLUSIONS: This study supports the clinical diagnosis of ASD in young children with TSC and demonstrates remarkable convergence of autism symptoms between TSC/ASD and nsASD. Our results strongly suggest the need for early intervention in toddlers with TSC, with treatment strategies targeting social communication function as well as broader developmental domains, before the onset of autism symptoms.
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5. Jiraanont P, Hagerman RJ, Neri G, Zollino M, Murdolo M, Tassone F. {{Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome}}. {Eur J Med Genet}. 2016.
Aberrant CGG trinucleotide amplification within the FMR1 gene, which spans approximately 38 Kb of genomic DNA is almost always what leads to fragile X syndrome (FXS). However, deletions of part or the entire FMR1 gene can also cause FXS. Both CGG amplification-induced silencing and deletions result in the absence of the FMR1 gene product, FMRP. Here, we report a rare case of germinal mosaicism of a deletion encompassing approximately 300 Kb of DNA, which by removing the entire FMR1 gene led to FXS. The male proband, carrying the deletion, presented in clinic with the typical features of FXS. His mother was analyzed by FISH on metaphase chromosomes with cosmid probe c22.3 spanning the FMR1 locus, and she was found not to carry the deletion on 30 analyzed cells from peripheral blood lymphocytes. Prenatal examination of the mother’s third pregnancy showed that the male fetus also had the same deletion as the proband. Following this prenatal diagnosis, FISH analysis in the mother was expanded to 400 metaphases from peripheral lymphocytes, and a heterozygous FMR1 deletion was found in three. Although this result could be considered questionable from a diagnostic point of view, it indicates that the deletion is in the ovary’s germinal cells.
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6. Kilinc S, Herguner S. {{Oral Decongestant-Induced Mania in a Child with Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol}. 2016.
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7. Kirk HE, Gray KM, Ellis K, Taffe J, Cornish KM. {{Computerised attention training for children with intellectual and developmental disabilities: a randomised controlled trial}}. {J Child Psychol Psychiatry}. 2016.
BACKGROUND: Children with intellectual and developmental disabilities (IDD) experience heightened attention difficulties which have been linked to poorer cognitive, academic and social outcomes. Although, increasing research has focused on the potential of computerised cognitive training in reducing attention problems, limited studies have assessed whether this intervention could be utilised for those with IDD. This study aimed to assess the efficacy of a computerised attention training programme in children with IDD. METHODS: In a double-blind randomised controlled trial, children (n = 76; IQ < 75) aged 4-11 years were assigned to an adaptive attention training condition or a nonadaptive control condition. Both conditions were completed at home over a 5-week period and consisted of 25 sessions, each of 20-min duration. Outcome measures (baseline, posttraining and 3-month follow-up) assessed core attention skills (selective attention, sustained attention and attentional control) and inattentive/hyperactive behaviour. RESULTS: Children in the attention training condition showed greater improvement in selective attention performance compared to children in the control condition (SMD = 0.24, 95% CI 0.02, 0.45). These improvements were maintained 3 months after training had ceased (SMD = 0.26, 95% CI 0.04, 0.48). The attention training programme was not effective in promoting improvements in sustained attention, attentional control or inattentive/hyperactive behaviours. CONCLUSIONS: The findings suggest that attention training may enhance some aspects of attention (selective attention) in children with IDD, but the small to medium effect sizes indicate that further refinement of the training programme is needed to promote larger, more global improvements. Lien vers le texte intégral (Open Access ou abonnement)
8. Kosaka H, Okamoto Y, Munesue T, Yamasue H, Inohara K, Fujioka T, Anme T, Orisaka M, Ishitobi M, Jung M, Fujisawa TX, Tanaka S, Arai S, Asano M, Saito DN, Sadato N, Tomoda A, Omori M, Sato M, Okazawa H, Higashida H, Wada Y. {{Oxytocin efficacy is modulated by dosage and oxytocin receptor genotype in young adults with high-functioning autism: a 24-week randomized clinical trial}}. {Transl Psychiatry}. 2016; 6(8): e872.
Recent studies have suggested that long-term oxytocin administration can alleviate the symptoms of autism spectrum disorder (ASD); however, factors influencing its efficacy are still unclear. We conducted a single-center phase 2, pilot, randomized, double-blind, placebo-controlled, parallel-group, clinical trial in young adults with high-functioning ASD, to determine whether oxytocin dosage and genetic background of the oxytocin receptor affects oxytocin efficacy. This trial consisted of double-blind (12 weeks), open-label (12 weeks) and follow-up phases (8 weeks). To examine dose dependency, 60 participants were randomly assigned to high-dose (32 IU per day) or low-dose intranasal oxytocin (16 IU per day), or placebo groups during the double-blind phase. Next, we measured single-nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR). In the intention-to-treat population, no outcomes were improved after oxytocin administration. However, in male participants, Clinical Global Impression-Improvement (CGI-I) scores in the high-dose group, but not the low-dose group, were significantly higher than in the placebo group. Furthermore, we examined whether oxytocin efficacy, reflected in the CGI-I scores, is influenced by estimated daily dosage and OXTR polymorphisms in male participants. We found that >21 IU per day oxytocin was more effective than 21 IU per day, and that a SNP in OXTR (rs6791619) predicted CGI-I scores for 21 IU per day oxytocin treatment. No severe adverse events occurred. These results suggest that efficacy of long-term oxytocin administration in young men with high-functioning ASD depends on the oxytocin dosage and genetic background of the oxytocin receptor, which contributes to the effectiveness of oxytocin treatment of ASD.
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9. Lawson LM, Foster L. {{Sensory Patterns, Obesity, and Physical Activity Participation of Children With Autism Spectrum Disorder}}. {Am J Occup Ther}. 2016; 70(5): 7005180070p1-8.
Obesity is a public health concern for the population in general and for children with autism spectrum disorder (ASD) specifically. The purpose of this study was to understand relationships between sensory patterns, obesity, and physical activity engagement of children with ASD (N = 77) sampled from a specialized community-based swimming program. This retrospective correlational study analyzed program data. Results show that almost half (42.2%) of the children were overweight or obese, and sensory avoiding behaviors were related to higher body mass index (BMI). Children participated in few formal and informal physically active recreation activities. Sensory seeking behaviors were associated with increased participation in informal activities, and higher BMI was associated with less participation in both formal and informal activities. Practitioners should consider sensory processing patterns and BMI when developing community-based programs to promote physical activity of children with ASD.
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10. Leslie DL, Iskandarani K, Dick AW, Mandell DS, Yu H, Velott D, Agbese E, Stein BD. {{The Effects of Medicaid Home and Community-based Services Waivers on Unmet Needs Among Children With Autism Spectrum Disorder}}. {Med Care}. 2016.
BACKGROUND: Several states have passed Medicaid Home and Community-based Services (HCBS) waivers that expand eligibility criteria and available services for children with autism spectrum disorder (ASD). Previous research has shown considerable variation in these waivers, but little is known about the extent to which they address the health care needs of children with ASD. OBJECTIVE: To determine the effects of Medicaid HCBS waivers, and their characteristics, on unmet health care needs among children with ASD. METHODS: We used data from the 2003, 2007, and 2011 waves of the National Survey of Children’s Health with detailed information on the Medicaid HCBS waiver programs of 35 states. Quasi-difference-in-difference-in-differences models were used to determine the effects of waivers and their characteristics on parent report of unmet health care needs of children with ASD compared with children without ASD. RESULTS: Greater waiver cost limits per child, estimated costs of services, and enrollment limits were associated with significant decreases in the adjusted rate of unmet health care needs, with considerable variation by household income level. CONCLUSIONS: These findings suggest that Medicaid HCBS waivers significantly decrease the unmet need for health care among children with ASD, most substantially among those who would not otherwise qualify for Medicaid. The findings regarding the effects of specific aspects of these waivers can inform the development of insurance policies in other states to address the needs of children with ASD.
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11. Libero LE, Burge W, Deshpande HD, Pestilli F, Kana RK. {{White Matter Diffusion of Major Fiber Tracts Implicated in Autism Spectrum Disorder}}. {Brain Connect}. 2016.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder found to have widespread alterations in the function and synchrony of brain regions. These differences may underlie alterations in microstructural organization, such as in white matter pathways. To investigate the diffusion of major white matter tracts, the current study examined multiple indices of white matter diffusion in 42 children and adults with ASD, and 44 typically developing (TD) age-and-IQ-matched peers using diffusion tensor imaging (DTI). Diffusivity measures were compared between groups for the following tracts: bilateral cingulum bundle, corpus callosum, inferior longitudinal fasciculus, superior longitudinal fasciculus, and uncinate fasciculus. Results indicate a significant reduction in fractional anisotropy (FA) for the left superior longitudinal fasciculus (LSLF) in ASD children and adults, compared to TD peers. A significant increase in radial diffusivity for ASD participants was also found in the same cluster along the LSLF. In addition, a significant positive correlation emerged for all subjects between FA for the LSLF and age, with FA increasing with age. These findings point to a significant alteration in long distance white matter connectivity in children and adults with ASD, potentially underscoring the relationship between alterations in white matter diffusion and the ASD phenotype. These results also suggest that the white matter alterations in autism may be subtle and related to the developmental trajectory.
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12. Lightdale JR. {{The Gut Speaks: Reframing the Role of Pediatric Gastroenterologists Caring for Children With Autism and Gastrointestinal Symptoms}}. {J Pediatr Gastroenterol Nutr}. 2016; 63(3): 313-4.
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13. Lyall K, Croen LA, Sjodin A, Yoshida CK, Zerbo O, Kharrazi M, Windham GC. {{Polychlorinated Biphenyl and Organochlorine Pesticide Concentrations in Maternal Mid-Pregnancy Serum Samples: Association with Autism Spectrum Disorder and Intellectual Disability}}. {Environ Health Perspect}. 2016.
BACKGROUND: Polychlorinated biphenyls (PCBs) and organochlorine pesticides (OCPs) are neurodevelopmental toxicants, but few studies have examined associations with autism spectrum disorder (ASD). OBJECTIVES: To determine whether prenatal exposure to PCBs and OCPs influences offspring risk of ASD and intellectual disability without autism (ID). METHODS: We conducted a population-based case-control study among Southern California births, including children with ASD (N=545) meeting Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-TR criteria, ID (N=181), and general population (GP) controls (N=418). Concentrations of 11 PCB congeners and 2 OCPs measured in banked second trimester serum samples were compared between the diagnostic groups. Logistic regression was used to calculate crude and adjusted odds ratios (AOR) for associations with ASD, and separately for ID, compared to GP controls, by quartiles of analyte concentrations in primary analyses. RESULTS: Geometric mean levels of several PCB congeners were higher in the ASD group compared to ID and GP groups. ASD risk was elevated for a number of PCB congeners, particularly for the highest vs. lowest quartile of PCB138/158 (AOR=1.79, 95% CI 1.10, 2.71) and PCB153 (AOR=1.82, 95% CI 1.10, 3.02), and for highest deciles of other congeners in secondary analyses. PCB138/158 was also associated with increased ID (AOR=2.41, 95% CI 1.18, 4.91), though no trend was suggested. OCPs were not associated with increased risk of ASD in primary analyses, while non-monotonic increases in risk of ID were found with p,p’-DDE. CONCLUSIONS: Our results suggest higher levels of some organochlorine compounds during pregnancy are associated with ASD and ID.
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14. Tabolacci E, Palumbo F, Nobile V, Neri G. {{Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome}}. {Genes (Basel)}. 2016; 7(8).
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG expansion over 200 repeats (full mutation, FM) at the 5′ untranslated region (UTR) of the fragile X mental retardation 1 (FMR1) gene and subsequent DNA methylation of the promoter region, accompanied by additional epigenetic histone modifications that result in a block of transcription and absence of the fragile X mental retardation protein (FMRP). The lack of FMRP, involved in multiple aspects of mRNA metabolism in the brain, is thought to be the direct cause of the FXS phenotype. Restoration of FMR1 transcription and FMRP production can be obtained in vitro by treating FXS lymphoblastoid cell lines with the demethylating agent 5-azadeoxycytidine, demonstrating that DNA methylation is key to FMR1 inactivation. This concept is strengthened by the existence of rare male carriers of a FM, who are unable to methylate the FMR1 promoter. These individuals produce limited amounts of FMRP and are of normal intelligence. Their inability to methylate the FMR1 promoter, whose cause is not yet fully elucidated, rescues them from manifesting the FXS. These observations demonstrate that a therapeutic approach to FXS based on the pharmacological reactivation of the FMR1 gene is conceptually tenable and worthy of being further pursued.
