1. De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Ercument Cicek A, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu SC, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Crooks L, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Sean Hill R, Ionita-Laza I, Jimenez Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei J, Lehtimaki T, Lin CF, Ma’ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnstrom K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Ruther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Wang LS, Weiss LA, Jeremy Willsey A, Yu TW, Yuen RK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barrett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. {{Synaptic, transcriptional and chromatin genes disrupted in autism}}. {Nature};2014 (Oct 29)
The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, plus a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. Many of the genes implicated encode proteins for synaptic formation, transcriptional regulation and chromatin-remodelling pathways. These include voltage-gated ion channels regulating the propagation of action potentials, pacemaking and excitability-transcription coupling, as well as histone-modifying enzymes and chromatin remodellers-most prominently those that mediate post-translational lysine methylation/demethylation modifications of histones.
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2. Fenikile TS, Ellerbeck K, Filippi MK, Daley CM. {{Barriers to autism screening in family medicine practice: a qualitative study}}. {Prim Health Care Res Dev};2014 (Nov 4):1-11.
Aim We explored potential barriers to adoption of recommended screening for autism by family physicians at 18- and 24-month well-child visits. BACKGROUND: The American Academy of Pediatrics recommends early detection and intervention of autism through the use of a standardized autism-specific screening tool on all children at the 18- and 24-month well-child visits. However, not all family physicians screen for autism. METHODS: Three focus groups and six semi-structured interviews were conducted with 15 family physicians in the Kansas City metropolitan area. Verbatim transcripts were inductively coded; data were analyzed using standard text analysis. Findings Participants had differing views on the increased incidence of autism. Most participants attributed the increase to changes in diagnostic criteria. There was no consensus on the benefit of implementing universal screening for autism during the 18- or 24-month visit. Many preferred to identify potential problems through general developmental assessments and observations. No participants used specific screening tools for autism, and only one participant was aware of such a tool (M-CHAT). Lack of adequate training on child development and screening methods as well as limited availability of community-based resources to manage children with autism was seen as major barriers to routine screening. Suggested solutions included working toward a stronger evidence base, improving physician training and continuing education, and making systemic changes in healthcare. In conclusion, universal screening for autism at the 18- and 24-month visits is not widely accepted, nor is it implemented by family physicians.
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3. Fraint A, Vittal P, Szewka A, Bernard B, Berry-Kravis E, Hall DA. {{New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype}}. {Front Genet};2014;5:365.
PURPOSE: Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline, and parkinsonism in individuals who carry between 55 and 200 CGG repeats in the promoter region of the fragile X mental retardation 1 (FMR1) gene. This paper describes a series of patients who meet the definition of FXTAS who presented for care between 2009 and 2014. METHODS/RESULTS: Retrospective chart review of patients seen in the FXTAS clinic at Rush University in Chicago. CONCLUSIONS: Patients with FXTAS may present with a progressive supranuclear palsy-like phenotype and other eye movement abnormalities are common in these patients as well. Rapid worsening of gait abnormalities in FXTAS may be due to a secondary spinal issue and should be aggressively treated to regain function. Finally, the FXTAS Rating Scale score does not reliably inform the certainty of diagnosis or CGG repeat size in these patients.
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4. George B, Padmam MS, Nair MK, Leena ML, Russell PS. {{CDC Kerala 14: Early Child Care Practices at Home Among Children (2-6 y) with Autism-A Case Control Study}}. {Indian J Pediatr};2014 (Nov 1)
OBJECTIVES: To compare early child care practices at home as possible risk factors among children between 2 and 6 y of age with autism and a control group of normal children without any symptom of autism, presenting at the well-baby/immunization clinic. METHODS: This case control study was undertaken at the autism clinic of CDC Kerala, comparing possible risk factors for autism among 143 children between 2 and 6 y with autism as per CARS criteria and a control group of 200 normal children of the same age from well-baby/immunization clinic of SAT hospital. The data was collected using a structured pre-piloted questionnaire, which included 11 questions administered by the same senior social scientist, on early child care practices at home that have been universally considered as important for child development. RESULTS: On multivariate analysis on early child care practices at home as possible risk factors for autism, it was observed that statistically significant high odds ratios were present for (i) no outings (OR = 3.36; 95 % CI: 1.39 – 8.16; p 0.007); (ii) child does not play with children of same age (OR = 19.57; 95 % CI: 9.50 – 40.32); (iii) do not tell stories/sing songs to the child (OR = 3.21; 95 % CI: 1.61 – 6.41); and (iv) breastfeeding duration nil/ < 6 mo (OR = 3.40; 95 % CI: 1.28 – 8.99). CONCLUSIONS: This case control study involving 143 children between 2 and 6 y with autism as per CARS criteria and a control group of 200 normal children has shown that early child care practices at home, specifically breastfeeding duration nil/ < 6 mo, child does not play with children of same age, do not tell stories/sing songs to the child and no outings for the child are possible risk factors for autism.
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5. George B, Padmam MS, Nair MK, Leena ML, Russell PS. {{CDC Kerala 12: Socio-demographic Factors Among Children (2-6 y) with Autism – A Case Control Study}}. {Indian J Pediatr};2014 (Nov 5)
OBJECTIVES: To compare the socio-demographic factors among children between 2 and 6 y of age with autism and a control group of normal children. METHODS: One hundred forty three confirmed cases of 2-6 y-old children with autism, attending autism clinic of Child Development Centre, who had a CARS score of more than 30 were included in the study. Two hundred normal children in the same age group were recruited from the well-baby/immunization clinic of SAT Hospital, Thiruvananthapuram. Data was collected using a structured pre-piloted questionnaire consisting of 11 socio-demographic possible risk factors. RESULTS: The multivariate analysis on socio-demographic characteristics as possible risk factors for autism has shown that (i) upper and upper middle socioeconomic status (OR: 7.13; CI: 3.26-15.57) and (ii) male gender (OR: 3.95; CI: 2.22-7.04) were significant risk factors for autism, whereas place of residence, rural (OR: 0.41; CI: 0.24-0.68) is a protective factor. CONCLUSIONS: This case control study involving 143 children between 2 and 6 y with autism as per CARS criteria and a control group of 200 normal children has shown that upper and upper middle socioeconomic status and (ii) male gender are significant risk factors for autism, whereas place of residence, rule is a protective factor.
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6. Grenon I, Merrick J. {{Intellectual and developmental disabilities: eugenics}}. {Front Public Health};2014;2:201.
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7. Grissom M, Tiffany M, Davidson L. {{Screening for autism spectrum disorders}}. {Am Fam Physician};2014 (Oct 15);90(8):574-575.
8. Hansen SN, Schendel DE, Parner ET. {{Explaining the Increase in the Prevalence of Autism Spectrum Disorders: The Proportion Attributable to Changes in Reporting Practices}}. {JAMA Pediatr};2014 (Nov 3)
Importance: The prevalence of autism spectrum disorders (ASDs) has increased markedly in recent decades, which researchers have suggested could be caused in part by nonetiologic factors such as changes in diagnosis reporting practices. To our knowledge, no study has quantified the degree to which changes in reporting practices might explain this increase. Danish national health registries have undergone a change in diagnostic criteria in 1994 and the inclusion of outpatient contacts to health registries in 1995. Objective: To quantify the effect of changes in reporting practices in Denmark on reported ASD prevalence. Design, Setting, and Participants: We used a population-based birth cohort approach that includes information on all individuals with permanent residence in Denmark. We assessed all children born alive from January 1, 1980, through December 31, 1991, in Denmark (n = 677 915). The children were followed up from birth until ASD diagnosis, death, emigration, or the end of follow-up on December 31, 2011, whichever occurred first. The analysis uses a stratified Cox proportional hazards regression model with the changes in reporting practices modeled as time-dependent covariates. Exposures: The change in diagnostic criteria in 1994 and the inclusion of outpatient diagnoses in 1995. Main Outcomes and Measures: Autism spectrum disorders. Results: For Danish children born during the study period, 33% (95% CI, 0%-70%) of the increase in reported ASD prevalence could be explained by the change in diagnostic criteria alone; 42% (95% CI, 14%-69%), by the inclusion of outpatient contacts alone; and 60% (95% CI, 33%-87%), by the change in diagnostic criteria and the inclusion of outpatient contacts. Conclusions and Relevance: Changes in reporting practices can account for most (60%) of the increase in the observed prevalence of ASDs in children born from 1980 through 1991 in Denmark. Hence, the study supports the argument that the apparent increase in ASDs in recent years is in large part attributable to changes in reporting practices.
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9. Harfterkamp M, Buitelaar JK, Minderaa RB, van de Loo-Neus G, van der Gaag RJ, Hoekstra PJ. {{Atomoxetine in Autism Spectrum Disorder: No Effects on Social Functioning; Some Beneficial Effects on Stereotyped Behaviors, Inappropriate Speech, and Fear of Change}}. {J Child Adolesc Psychopharmacol};2014 (Nov 4)
Abstract Objective: The objective of this study was to investigate the short-term treatment effects of atomoxetine on autism spectrum disorder (ASD) symptoms in children and adolescents with both ASD and attention-deficit/hyperactivity disorder (ADHD). Methods: A total of 97 patients 6-17 years of age, with ASD and ADHD, were treated with 1.2 mg/kg/day of atomoxetine during an 8 week double-blind placebo-controlled period. Here, we investigated effects on two parent-based secondary outcome measures, the Aberrant Behavior Checklist (ABC) and the Children’s Social Behavior Questionnaire (CSBQ). Results: After 8 weeks of double-blind treatment, atomoxetine administration was associated with significant treatment effects on the ABC subscales Hyperactivity, Inappropriate Speech, and Stereotypic Behavior, and on the CSBQ subscale Fear for Changes. Conclusions: Our study results indicate no beneficial effects of atomoxetine on social functioning. However, atomoxetine may ameliorate restricted and stereotyped behaviors and communication. This study has been registered in ClinicalTrials.gov ( www.clinicaltrials.gov ) under registration number NCT00380692.
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10. Hormozdiari F, Penn O, Borenstein E, Eichler E. {{The discovery of integrated gene networks for autism and related disorders}}. {Genome Res};2014 (Nov 5)
Despite considerable genetic heterogeneity underlying neurodevelopmental diseases, there is compelling evidence that many disease genes will map to a much smaller number of biological subnetworks. We developed a computational method, termed MAGI (Merging Affected Genes into Integrated-networks), that simultaneously integrates protein-protein interaction and RNA-seq expression profiles during brain development to discover ‘modules’ enriched for de novo mutations in probands. We applied this method to recent exome sequencing of 1116 autism and intellectual disability patients discovering two distinct modules that differ in their properties and associated phenotypes. The first module consists of 80 genes associated with Wnt, Notch, SWI/SNF and NCOR complexes and shows the highest expression early during embryonic development (8-16 post-conception weeks, pcw). The second module consists of 24 genes associated with synaptic function, including long-term potentiation and calcium signaling with higher levels of postnatal expression. Patients with de novo mutations in these modules are more significantly intellectually impaired and carry more severe missense mutations when compared to probands with de novo mutations outside of these modules. We used our approach to define subsets of the network associated with higher functioning autism as well as greater severity with respect to IQ. Finally, we applied MAGI independently to epilepsy and schizophrenia exome sequencing cohorts and find significant overlap as well as expansion of these modules suggesting a core set of integrated neurodevelopmental networks common to seemingly diverse human diseases.
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11. Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. {{The contribution of de novo coding mutations to autism spectrum disorder}}. {Nature};2014 (Oct 29)
Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected to unaffected siblings, we show that 13% of de novo missense mutations and 43% of de novo likely gene-disrupting (LGD) mutations contribute to 12% and 9% of diagnoses, respectively. Including copy number variants, coding de novo mutations contribute to about 30% of all simplex and 45% of female diagnoses. Almost all LGD mutations occur opposite wild-type alleles. LGD targets in affected females significantly overlap the targets in males of lower intelligence quotient (IQ), but neither overlaps significantly with targets in males of higher IQ. We estimate that LGD mutation in about 400 genes can contribute to the joint class of affected females and males of lower IQ, with an overlapping and similar number of genes vulnerable to contributory missense mutation. LGD targets in the joint class overlap with published targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes. Most of the significance for the latter comes from affected females.
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12. Kim TI. {{A call for attention to developmental disabilities in dental care}}. {J Periodontal Implant Sci};2014 (Oct);44(5):215.
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13. Molesworth C, Chevallier C, Happe F, Hampton JA. {{Children With Autism Do Not Show Sequence Effects With Auditory Stimuli}}. {J Exp Psychol Gen};2014 (Nov 3)
Categorization decisions that reflect constantly changing memory representations might be an important adaptive response to dynamic environments. We assessed One such influence from memory (i.e., sequence effects) on categorization decisions made by individuals with autism. A model of categorization (i.e., memory and contrast model, Stewart, Brown, & Chater, 2002) assumes that contextual influences in the form of sequence effects drive categorization performance in individuals with typical development. Difficulties with contextual processing in autism, described by the weak central coherence account (Frith, 1989; Frith & Happe, 1994) imply reduced sequence effects for this participant group. The experiment reported in this article tested this implication. High-functioning children and adolescents with autism (ages 10 to 15 years), matched on age and IQ with typically developing children, completed a test that measures sequence effects (i.e., category contrast effect task, Stewart et al., 2002) using auditory tones. Participants also completed a pitch discrimination task to measure any potential confound arising from possible enhanced discrimination sensitivity within the autism spectrum disorder group. The typically developing group alone demonstrated a category contrast effect. The data suggest that this finding cannot be attributed readily to participant group differences in discrimination sensitivity, perseveration, difficulties on the associated binary categorization task, or greater reliance on long-term memory. We discuss the broad methodological implication that comparison between autism spectrum disorder group and control group responses to sequential perceptual stimuli might be confounded by the influence of preceding trials. We also discuss implications for the weak central coherence account and models of typical cognition. (PsycINFO Database Record (c) 2014 APA, all rights reserved).
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14. Nair MK, Russell PS, George B, Prasanna GL, Mini AO, Leena ML, Russell S, Minju KA. {{CDC Kerala 8: Effectiveness of a Clinic Based, Low Intensity, Early Intervention for Children with Autism Spectrum Disorder in India: A Naturalistic Observational Study}}. {Indian J Pediatr};2014 (Nov 1)
OBJECTIVE: To document the effectiveness of low intensity, clinic based intervention models for Autism Spectrum Disorders (ASD) in countries with low disability resources. METHODS: Thirty-nine participants with a mean (SD) of 36.03(11.15) mo were assessed before and after intervention with Childhood Autism rating scale (CARS), and at baseline with the Denver Developmental Screening Test for quantifying the effectiveness of the clinic-based intervention in ameliorating autism symptoms and studying the effect of developmental disability respectively. Developmental therapists in the clinic gave low-intensity group intervention for 45-60 min to the child through mother and encouraged to continue the training, for 3-4 h, at home to address the specific goals in the three ASD symptom clusters. Most of the children were also placed in play-schools. Follow-up support was given either on a weekly, fortnightly or monthly basis. Data was analyzed using appropriate bivariate and multivariate techniques. RESULTS: There was amelioration in the severity of autism after intervention, which was statistically and clinically significant. Intervention was useful to help children with mild to severe autism. CONCLUSIONS: Low-intensity, clinic-based intervention can be effectively used in situation where there is paucity of disability resources.
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15. Pyhala R, Hovi P, Lahti M, Sammallahti S, Lahti J, Heinonen K, Pesonen AK, Strang-Karlsson S, Eriksson JG, Andersson S, Jarvenpaa AL, Kajantie E, Raikkonen K. {{Very Low Birth Weight, Infant Growth, and Autism-Spectrum Traits in Adulthood}}. {Pediatrics};2014 (Nov 3)
OBJECTIVES: We examined whether adults born preterm at very low birth weight (VLBW; <1500 g) differ from term-born adults in autism-spectrum traits, and whether among VLBW adults, growth in infancy is associated with these traits. METHODS: A total of 110 VLBW and 104 term-born adults of the Helsinki Study of Very Low Birth Weight Adults completed the Autism-Spectrum Quotient yielding total, social interaction, and attention to detail sum scores. Growth in weight, length, and head circumference from birth to term and from term to 1 year of corrected age was determined as standardized residuals reflecting growth conditional on previous history. RESULTS: VLBW adults scored higher than term-born controls on social interaction sum score, indicating higher autism-spectrum traits. In contrast, they scored lower on attention to detail sum score, indicating lower autism-spectrum traits. Within the VLBW group, faster growth in weight, length, and head circumference from birth to term was associated with lower total and social interaction sum scores. In this group, growth from term to 1 year was not associated with autism-spectrum traits. CONCLUSIONS: Among those born preterm at VLBW, the risk for higher levels of autism-spectrum traits, particularly related to social interaction, may persist into adulthood. Faster growth from birth to term may ameliorate these effects, suggesting that targeted interventions could aid long-term neurodevelopment.
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16. Rosenberg A, Margolis LH, Umble K, Chewning L. {{Fostering Intentional Interdisciplinary Leadership in Developmental Disabilities: The North Carolina LEND Experience}}. {Matern Child Health J};2014 (Nov 4)
This study describes the effects of interdisciplinary leadership training on a retrospective cohort (2001-2009) of the University of North Carolina MCH Leadership Education in Neurodevelopmental and Related Disabilities (UNC-CH LEND) program, including LEND graduates who were selected to participate in a focused Interdisciplinary Leadership Development Program (ILDP) in addition to their LEND training. Specifically, the study examined graduates’ reports of the relationship between LEND training and their attitudes/beliefs about interdisciplinary practice, as well as their reported use of interdisciplinary skills in their post-fellowship practice settings. Using a post-test design, participants in the LEND and ILDP programs were contacted to complete an on-line survey. Using a Conceptual Model guided by EvaluLEAD, respondents were asked to rate the influence of the UNC-LEND training program on their attitudes/beliefs and skills using a 5-point Likert scale, as well as through open-ended descriptions. The 49 LEND respondents represented a 56 % overall response rate from years 2001-2009. ILDP participants reported greater agreement with interdisciplinary attitudes/beliefs and more frequent use of interdisciplinary skills than did the non-participants. Graduates of LEND as well as ILDP reported the influence of training through a range of qualitative responses. Response examples highlight the influence of LEND training to promote outcomes at the individual, organizational and systems level. Findings from this study illustrate that MCHB funded LEND training has a strong influence on the future employment and interdisciplinary practices of graduates for the MCH workforce as well as services for individuals with developmental disabilities, their families and systems of care.
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17. Sharda M, Midha R, Malik S, Mukerji S, Singh NC. {{Fronto-Temporal Connectivity is Preserved During Sung but Not Spoken Word Listening, Across the Autism Spectrum}}. {Autism Res};2014 (Nov 5)
Co-occurrence of preserved musical function with language and socio-communicative impairments is a common but understudied feature of Autism Spectrum Disorders (ASD). Given the significant overlap in neural organization of these processes, investigating brain mechanisms underlying speech and music may not only help dissociate the nature of these auditory processes in ASD but also provide a neurobiological basis for development of interventions. Using a passive-listening functional magnetic resonance imaging paradigm with spoken words, sung words and piano tones, we found that 22 children with ASD, with varying levels of functioning, activated bilateral temporal brain networks during sung-word perception, similarly to an age and gender-matched control group. In contrast, spoken-word perception was right-lateralized in ASD and elicited reduced inferior frontal gyrus (IFG) activity which varied as a function of language ability. Diffusion tensor imaging analysis reflected reduced integrity of the left hemisphere fronto-temporal tract in the ASD group and further showed that the hypoactivation in IFG was predicted by integrity of this tract. Subsequent psychophysiological interactions revealed that functional fronto-temporal connectivity, disrupted during spoken-word perception, was preserved during sung-word listening in ASD, suggesting alternate mechanisms of speech and music processing in ASD. Our results thus demonstrate the ability of song to overcome the structural deficit for speech across the autism spectrum and provide a mechanistic basis for efficacy of song-based interventions in ASD. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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18. Singh I, Elsabbagh M. {{Autism research beyond the bench}}. {Autism};2014 (Oct);18(7):754-755.
19. Spruyt K, Curfs LM. {{Non-pharmacological management of problematic sleeping in children with developmental disabilities}}. {Dev Med Child Neurol};2014 (Nov 5)
AIM: Sleep is important for underlying neural plasticity, and children with developmental disabilities suffer behavioural, emotional, cognitive, and sensory-motor issues that affect their wake and sleep states. Problematic sleeping can be hypothesized to have adverse effects on both of these areas in children with developmental disabilities. With this review, we aim to provide a benchmark in managing problematic sleeping in children with developmental disabilities. METHOD: A literature search was conducted and data on the study descriptives, patient characteristics, study design, study-related factors, criteria applied to operationalize sleep and developmental disability, and sleep ‘management’ were collected. Each management strategy was tabulated and analysed. RESULTS: We identified 90 studies involving 1460 children with developmental disabilities, of whom 61.6% were male. The highest proportion of studies, almost half, were in children with syndromes (44.4%), followed by studies in children with intellectual disabilities (18.9%). Non-pharmacological sleep management was primarily aimed at improving sleep quality (86.7%), followed by sleep-wake schedules and, to a certain extent, sleep regularity (42.2%). About 56.7% of the studies reported more than one approach. Studies mostly focused on disorders of initiating and maintaining sleep through a diversity of strategies and relied heavily on subjective measures to identify and monitor problematic sleeping. Sleep management approaches were primarily delivered at the level of the individual in the home setting. The number of management approaches per study was unrelated to the number of sleep problems discussed. INTERPRETATION: Modifying sleep management strategies to meet the specific needs of children with developmental disabilities is encouraged, and studies that look beyond sleep quality or sleep quantity are required. It is also advocated that modifications to sleep hygiene, sleep regularity, and sleep ecology in a population with developmental disabilities are rigorously investigated. Finally, daytime somnolence should not be overlooked when aiming to optimize sleep in children with developmental disabilities across the ages and stages of their lives. There were several limitations in the research findings of problematic sleep in children with developmental disabilities. In general, the sleep problems and the developmental disabilities investigated were multicomponent in nature. It is likely that management approaches impacted those problems on multiple levels or through diverse ‘therapeutic’ pathways. There is a need for randomized controlled trials and more objective measures that quantify improved sleep or wake states.
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20. Tural S, Tekcan A, Kara N, Elbistan M, Guven D, Ali Tasdemir H. {{FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X}}. {Gynecol Endocrinol};2014 (Nov 4):1-5.
Abstract CGG repeat expansion in the FMR1 gene is associated with fragile X syndrome, fragile X-associated tremor/ ataxia syndrome and fragile X-associated primary ovarian insufficiency. In this study, FMR1 gene mutation screening was carried out in 50 patients. Among them, 12(%24) were POF and 19 (%38) were Fragile-X. We also examined the parents of the Fragile-X patients. DNA was extracted from blood with kit procedure. To examine expansion of the fragile-X CGG repeat, TP-PCR assay was performed and all amplicons were evaluated on an ABI3130XL Genetic Analyzer System by Fragman analysis. The data were analyzed by Gene Mapper Program. As a result of this study, the patients were identified with the fragile-X whose FMR1 gene CGG alleles have been observed in normal range. However, in patients who were referred with premature ovarian failure, pre-mutation frequency was observed as 6.6%. Only limited study in Turkish population reported frequency of pre-mutation carrier in POF and Fragile-X. Detection of pre-mutation carrier is important for next generation to have healthy siblings. We emphasize that TP-PCR technique is clear, reliable, sensitive, easy and fast method to detect pre-mutation. However, full mutations have to be examined by the technique of Southern blot in the diagnosis of fragile-X.
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21. Wetherby AM, Guthrie W, Woods J, Schatschneider C, Holland RD, Morgan L, Lord C. {{Parent-Implemented Social Intervention for Toddlers With Autism: An RCT}}. {Pediatrics};2014 (Nov 3)
OBJECTIVES: To compare the effects of two 9-month parent-implemented interventions within the Early Social Interaction (ESI) Project. Both individual-ESI, offered 2 or 3 times per week at home or in the community, and group-ESI, offered once per week in a clinic, taught parents how to embed strategies to support social communication throughout everyday activities. METHODS: Participants in the randomized controlled trial included 82 children diagnosed with autism spectrum disorder at 16 to 20 months. Children were matched on pretreatment nonverbal developmental level and pairs were randomly assigned to treatment condition. Child outcomes included measures of social communication, autism symptoms, adaptive behavior, and developmental level. Child outcomes are reported from baseline to the end of the 9-month interventions. RESULTS: Children in individual-ESI showed differential change on a standardized examiner-administered observational measure of social communication, as they improved at a faster rate than children in group-ESI. Individual-ESI also showed differential efficacy on a parent report measure of communication, daily living, and social skills, as they showed improvement or stability, whereas group-ESI led to worsening or no significant change on these skills. Finally, individual-ESI showed differential change on examiner-administered measures of receptive language skills, as children in individual-ESI improved significantly, whereas group-ESI showed no change. CONCLUSIONS: These findings support the efficacy of individual-ESI compared with group-ESI on child outcomes, suggesting the importance of individualized parent coaching in natural environments. The efficacy of a parent-implemented intervention using little professional time has potential for community viability, which is particularly important in light of the lack of main effects on child outcomes of most other parent-implemented interventions.
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22. Worley G, Crissman BG, Cadogan E, Milleson C, Adkins DW, Kishnani PS. {{Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome}}. {J Child Neurol};2014 (Nov 3)
Over a 10-year period in a Down syndrome Clinic, 11 children and adolescents were encountered with a history of new-onset (8) or worsening (3) autistic characteristics. Ten of the 11 (91%) had cognitive decline to a dementia-like state and 9 of the 11 (82%) new-onset insomnia. The mean age at which symptoms developed was 11.4 years (standard deviation = 3.6 years; range 5-14 years), an older age than usual for autistic regression in Down syndrome. Ten of 11 cases (91%) had elevated (« positive ») thyroperoxidase antibody titers compared to only 5 of 21 (23%) age-matched control subjects with Down syndrome (P < .001). At follow-up at a mean age of 20.7 years (standard deviation = 3.9 years), 8 of the 11 (73%) were at least somewhat better. Down syndrome disintegrative disorder seems an appropriate name for this newly recognized clinical association, which may be due to autoimmunity.
