1. Freilinger M, Bohm M, Lanator I, Vergesslich-Rothschild K, Huber WD, Anderson A, Wong K, Baikie G, Ravikumara M, Downs J, Leonard H. {{Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome}}. {Dev Med Child Neurol};2014 (Feb 15)
AIM: This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease. METHOD: The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations. RESULTS: The incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic. INTERPRETATION: Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.
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2. Gallagher S, Phillips AC, Lee H, Carroll D. {{The Association Between Spirituality and Depression in Parents Caring for Children with Developmental Disabilities: Social Support and/or Last Resort}}. {J Relig Health};2014 (Feb 16)
Associations between spirituality and depression were examined in parents of children with developmental disabilities using both quantitative and qualitative methodology. Spirituality was positively associated with depression, whereas social support was negatively related; parents with higher spiritual beliefs and lower levels of support had higher depression scores. Themes emerging from interviews were spiritual/religious coping as a way of dealing with difficulty, as a last resort, and as a form of release from their situation. Associations between spirituality and depression in these parents are more complex than previously thought.
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3. Gee BM, Thompson K, St John H. {{Efficacy of a Sound-based Intervention with a Child with an Autism Spectrum Disorder and Auditory Sensory Over-responsivity}}. {Occup Ther Int};2014 (Mar);21(1):12-20.
Sound-based interventions (SBIs) are being used by paediatric occupational therapists to help children with autism spectrum disorders and co-morbid sensory processing disorders. A limited yet growing body of evidence is emerging related to the efficacy of SBIs in reducing sensory processing deficits among paediatric clients with co-morbid conditions. The current study employed an ABA single-subject case-controlled design, implementing The Listening Program((R)) with a 7-year-old child diagnosed with autism spectrum disorder who demonstrated auditory sensory over-responsivity (SOR). The intervention consisted of 10 weeks of psycho-acoustically modified classical music that was delivered using specialized headphones and amplifier and a standard CD player. Repeated measures were conducted during the A(1), B and A(2) phases of the study using the Sensory Processing Measure, a subjective caregiver questionnaire, and the Sensory Over-Responsivity Scales, an examiner-based assessment measure to track changes of the participant’s auditory SOR-related behaviours. The results indicated that the participant exhibited a decrease in the number of negative (avoidant, verbal and physical negative) and self-stimulatory behaviours. The decreases in negative and self-stimulatory behaviour may have been due to the therapeutic effect of the repeated exposure to the Sensory Over-Responsivity Scales or The Listening Program SBI. Copyright (c) 2013 John Wiley & Sons, Ltd.
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4. Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. {{A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP}}. {Nat Genet};2014 (Feb 16)
Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities, a genetic diagnosis can be established in only a minority of patients. Known genetic causes include chromosomal aberrations, such as the duplication of the 15q11-13 region, and monogenic causes, as in Rett and fragile-X syndromes. The genetic heterogeneity within ASD is striking, with even the most frequent causes responsible for only 1% of cases at the most. Even with the recent developments in next-generation sequencing, for the large majority of cases no molecular diagnosis can be established. Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex. We estimate this gene to be mutated in at least 0.17% of ASD cases, making it one of the most frequent ASD-associated genes known to date.
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5. Klusek J, Martin GE, Losh M. {{Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome}}. {J Intellect Disabil Res};2014 (Feb 17)
BACKGROUND: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting using gold standard diagnostic tools. METHOD: This study explored whether boys and girls with FXS met criteria for ASD in a research setting using the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R), and then compared these data with the frequency of parent-reported clinical diagnoses. We also examined child and family characteristics as potential diagnostic predictors across settings. Participants included 35 females and 51 males with FXS (mean age: 10 years), who were from Eastern and Midwestern regions of the USA. RESULTS: About half of the children met criteria for ASD on either the ADOS or ADI-R, with ASD occurring three times more frequently in males than females ( approximately 75% vs. approximately 25%). In contrast, approximately 25% of participants of both genders had received a clinical diagnosis of ASD. While cognitive and language skills predicted diagnostic outcome on the ADOS and ADI-R, these skills did not predict clinical diagnoses. Executive functions predicted clinical diagnoses, but not diagnoses per the ADOS or ADI-R. CONCLUSIONS: ASD in FXS may be under-diagnosed in clinical/educational settings, which raises questions regarding access to ASD-related services.
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6. Kulage KM, Smaldone AM, Cohn EG. {{How Will DSM-5 Affect Autism Diagnosis? A Systematic Literature Review and Meta-analysis}}. {J Autism Dev Disord};2014 (Feb 16)
We conducted a systematic review and meta-analysis to determine the effect of changes to the Diagnostic and Statistical Manual (DSM)-5 on autism spectrum disorder (ASD) and explore policy implications. We identified 418 studies; 14 met inclusion criteria. Studies consistently reported decreases in ASD diagnosis (range 7.3-68.4 %) using DSM-5 criteria. There were statistically significant pooled decreases in ASD [31 % (20-44), p = 0.006] and DSM-IV-TR subgroups of Autistic disorder [22 % (16-29), p < 0.001] and pervasive developmental disorder-not otherwise specified (PDD-NOS) [70 % (55-82), p = 0.01]; however, Asperger’s disorder pooled decrease was not significant [70 % (26-94), p = 0.38]. DSM-5 will likely decrease the number of individuals diagnosed with ASD, particularly the PDD-NOS subgroup. Research is needed on policies regarding services for individuals lacking diagnosis but requiring assistance.
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7. Mavropoulou S, Sideridis GD. {{Knowledge of Autism and Attitudes of Children Towards Their Partially Integrated Peers with Autism Spectrum Disorders}}. {J Autism Dev Disord};2014 (Feb 18)
This study aimed to measure the effects of contact with integrated students with autism spectrum disorders (ASD) on the knowledge, attitudes and empathy of children (n = 224) from grades 4-6. A comparison group of children (n = 251) who had no contact with classmates with ASD was also included. All participants completed self-report instruments. The implementation of multilevel modeling and moderation analysis indicated significant effects on all dependent variables as well as differences across gender and grades. Implications are discussed regarding the role of contact on peers’ conceptions of autism and their attitudes towards children with ASD within inclusionary settings.
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8. Medeiros K, Winsler A. {{Parent-Child Gesture Use During Problem Solving in Autistic Spectrum Disorder}}. {J Autism Dev Disord};2014 (Feb 18)
This study examined the relationship between child language skills and parent and child gestures of 58 youths with and without an autism spectrum disorder (ASD) diagnosis. Frequencies and rates of total gesture use as well as five categories of gestures (deictic, conventional, beat, iconic, and metaphoric) were reliably coded during the collaborative Tower of Hanoi task. Children with ASD had lower Peabody Picture Vocabulary Test scores and gestured less and at lower rates compared to typically developing children. Gesture use was unrelated to vocabulary for typically developing children, but positively associated with vocabulary for those with ASD. Demographic correlates of gesturing differed by group. Gesture may be a point of communication intervention for families with children with ASD.
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9. Meral BF, Fidan A. {{Psychometric properties of the screening tool of feeding problems (STEP) in Turkish children with ASD}}. {Res Dev Disabil};2014 (Feb 13)
The purpose of this study is to determine the psychometric properties of the screening tool of feeding problems (STEP) in Turkish children with autism spectrum disorders (ASD). After providing linguistic equivalence of the scale, STEP was applied to 360 mothers on behalf of their children with ASD in order to determine the associated feeding problems. The scale which has 5 sub-domains and 3 Likert-type questions originally consisted of 23 items. Item-total correlations of the scale were acceptable, with the exception of item 8 and the differences between the item averages of the upper 27% and the lower 27% groups were significant (p<0.001). The internal consistency coefficient (alpha=0.81) and the split-half reliability (Spearman’s rho=0.69**) were high. The STEP achieved criterion-related validity. The results of Confirmatory Factor Analysis (chi2/df=3.2, RMSEA=0.08, SRMR=0.08, GFI=0.85, AGFI=0.81, CFI=0.86) showed that the scale has an acceptable goodness of fit. This study suggests that the Turkish version of the STEP could be a useful assessment tool when it comes to measuring feeding problems in children with ASD.
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10. Oyama G, Umemura A, Shimo Y, Nishikawa N, Nakajima A, Jo T, Nakajima M, Ishii H, Yamada D, Takanashi M, Arai H, Nanba E, Hattori N. {{Posterior Subthalamic Area Deep Brain Stimulation for Fragile X-Associated Tremor/Ataxia Syndrome}}. {Neuromodulation};2014 (Feb 14)
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11. Roche L, Sigafoos J, Lancioni GE, O’Reilly MF, Green VA, Sutherland D, van der Meer L, Schlosser RW, Marschik PB, Edrisinha CD. {{Tangible Symbols as an AAC Option for Individuals with Developmental Disabilities: A Systematic Review of Intervention Studies}}. {Augment Altern Commun};2014 (Feb 18)
We reviewed nine studies evaluating the use of tangible symbols in AAC interventions for 129 individuals with developmental disabilities. Studies were summarized in terms of participants, tangible symbols used, communication functions/skills targeted for intervention, intervention procedures, evaluation designs, and main findings. Tangible symbols mainly consisted of three-dimensional whole objects or partial objects. Symbols were taught as requests for preferred objects/activities in five studies with additional communication functions (e.g., naming, choice making, protesting) also taught in three studies. One study focused on naming activities. With intervention, 54% (n = 70) of the participants, who ranged from 3 to 20 years of age, learned to use tangible symbols to communicate. However, these findings must be interpreted with caution due to pre-experimental or quasi-experimental designs in five of the nine studies. Overall, tangible symbols appear promising, but additional studies are needed to establish their relative merits as a communication mode for people with developmental disabilities.
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12. Schieve LA, Tian LH, Baio J, Rankin K, Rosenberg D, Wiggins L, Maenner MJ, Yeargin-Allsopp M, Durkin M, Rice C, King L, Kirby RS, Wingate MS, Devine O. {{Population attributable fractions for three perinatal risk factors for autism spectrum disorders, 2002 and 2008 autism and developmental disabilities monitoring network}}. {Ann Epidemiol};2014 (Jan 15)
PURPOSE: Numerous studies establish associations between adverse perinatal outcomes/complications and autism spectrum disorder (ASD). There has been little assessment of population attributable fractions (PAFs). METHODS: We estimated average ASD PAFs for preterm birth (PTB), small for gestational age (SGA), and Cesarean delivery (CD) in a U.S. population. Average PAF methodology accounts for risk factor co-occurrence. ASD cases were singleton non-Hispanic white, non-Hispanic black, and Hispanic children born in 1994 (n = 703) or 2000 (n = 1339) who resided in 48 U.S. counties included within eight Autism and Developmental Disabilities Monitoring Network sites. Cases were matched on birth year, sex, and maternal county of residence, race-ethnicity, age, and education to 20 controls from U.S. natality files. RESULTS: For the 1994 cohort, average PAFs were 4.2%, 0.9%, and 7.9% for PTB, SGA, and CD, respectively. The summary PAF was 13.0% (1.7%-19.5%). For the 2000 cohort, average PAFs were 2.0%, 3.1%, and 6.7% for PTB, SGA, and CD, respectively, with a summary PAF of 11.8% (7.5%-15.9%). CONCLUSIONS: Three perinatal risk factors notably contribute to ASD risk in a U.S. population. Because each factor represents multiple etiologic pathways, PAF estimates are best interpreted as the proportion of ASD attributable to having a suboptimal perinatal environment resulting in PTB, SGA, and/or CD.
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13. Uzunova G, Hollander E, Shepherd J. {{The role of ionotropic glutamate receptors in childhood neurodevelopmental disorders: autism spectrum disorders and fragile x syndrome}}. {Curr Neuropharmacol};2014 (Jan);12(1):71-98.
Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are relatively common childhood neurodevelopmental disorders with increasing incidence in recent years. They are currently accepted as disorders of the synapse with alterations in different forms of synaptic communication and neuronal network connectivity. The major excitatory neurotransmitter system in brain, the glutamatergic system, is implicated in learning and memory, synaptic plasticity, neuronal development. While much attention is attributed to the role of metabotropic glutamate receptors in ASD and FXS, studies indicate that the ionotropic glutamate receptors (iGluRs) and their regulatory proteins are also altered in several brain regions. Role of iGluRs in the neurobiology of ASD and FXS is supported by a weight of evidence that ranges from human genetics to in vitro cultured neurons. In this review we will discuss clinical, molecular, cellular and functional changes in NMDA, AMPA and kainate receptors and the synaptic proteins that regulate them in the context of ASD and FXS. We will also discuss the significance for the development of translational biomarkers and treatments for the core symptoms of ASD and FXS.
