1. Hall DA, O’Keefe J A. {{Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment}}. {Tremor Other Hyperkinet Mov (N Y)};2012;2
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline. This disorder occurs in both males and females, frequently in families with children who have fragile X syndrome. The clinical features of this disorder, both classic and newly described, are summarized in this paper. In screening studies, fragile X mental retardation 1 (FMR1) gene premutation (55-200 CGG) expansions are most frequently seen in men with ataxia who have tested negative for spinocerebellar ataxias. Since the original description, the classic FXTAS phenotype has now been reported in females and in carriers of smaller (45-54 CGG) and larger (>200 CGG) expansions in FMR1. Premutation carriers may present with a Parkinson disease phenotype or hypotension, rather than with tremor and/or ataxia. Parkinsonism and gait ataxia may also be seen in individuals with gray zone (41-54 CGG) expansions. Studies regarding medication to treat the symptoms in FXTAS are few in number and suggest that medications targeted to specific symptoms, such as kinetic tremor or gait ataxia, may be most beneficial. Great progress has been made in regards to FXTAS research, likely given the readily available gene test and the screening of multiple family members, including parents and grandparents, of fragile X syndrome children. Expansion of genotypes and phenotypes in the disorder may suggest that a broader disease definition might be necessary in the future.
2. Norwood KW, Jr., Slayton RL, Health SO. {{Oral Health Care for Children With Developmental Disabilities}}. {Pediatrics};2013 (Feb 25)
Children with developmental disabilities often have unmet complex health care needs as well as significant physical and cognitive limitations. Children with more severe conditions and from low-income families are particularly at risk with high dental needs and poor access to care. In addition, children with developmental disabilities are living longer, requiring continued oral health care. This clinical report describes the effect that poor oral health has on children with developmental disabilities as well as the importance of partnerships between the pediatric medical and dental homes. Basic knowledge of the oral health risk factors affecting children with developmental disabilities is provided. Pediatricians may use the report to guide their incorporation of oral health assessments and education into their well-child examinations for children with developmental disabilities. This report has medical, legal, educational, and operational implications for practicing pediatricians.
Lien vers le texte intégral (Open Access ou abonnement)
3. Ruble LA, McGrew JH, Toland MD, Dalrymple NJ, Jung LA. {{A Randomized Controlled Trial of COMPASS Web-Based and Face-to-Face Teacher Coaching in Autism}}. {J Consult Clin Psychol};2013 (Feb 25)
Objective: Most children with autism rely on schools as their primary source of intervention, yet research has suggested that teachers rarely use evidence-based practices. To address the need for improved educational outcomes, a previously tested consultation intervention called the Collaborative Model for Promoting Competence and Success (COMPASS; Ruble, Dalrymple, & McGrew, 2010; Ruble, Dalrymple, & McGrew, 2012) was evaluated in a 2nd randomized controlled trial, with the addition of a web-based group. Method: Forty-nine teacher-child dyads were randomized into 1 of 3 groups: (1) a placebo control (PBO) group, (2) COMPASS followed by face-to-face (FF) coaching sessions, and (3) COMPASS followed by web-based (WEB) coaching sessions. Three individualized goals (social, communication, and independence skills) were selected for intervention for each child. The primary outcome of independent ratings of child goal attainment and several process measures (e.g., consultant and teacher fidelity) were evaluated. Results: Using an intent-to-treat approach, findings replicated earlier results with a very large effect size (d = 1.41) for the FF group and a large effect size (d = 1.12) for the WEB group relative to the PBO group. There were no differences in overall change across goal domains between the FF and WEB groups, suggesting the efficacy of videoconferencing technology. Conclusions: COMPASS is effective and results in improved educational outcomes for young children with autism. Videoconferencing technology, as a scalable tool, has promise for facilitating access to autism specialists and bridging the research-to-practice gap. (PsycINFO Database Record (c) 2013 APA, all rights reserved).
Lien vers le texte intégral (Open Access ou abonnement)
4. Saunders JA, Tatard-Leitman VM, Suh J, Billingslea EN, Roberts TP, Siegel SJ. {{Knockout of NMDA Receptors in Parvalbumin Interneurons Recreates Autism-Like Phenotypes}}. {Autism Res};2013 (Feb 25)
Autism is a disabling neurodevelopmental disorder characterized by social deficits, language impairment, and repetitive behaviors with few effective treatments. New evidence suggests that autism has reliable electrophysiological endophenotypes and that these measures may be caused by n-methyl-d-aspartic acid receptor (NMDAR) disruption on parvalbumin (PV)-containing interneurons. These findings could be used to create new translational biomarkers. Recent developments have allowed for cell-type selective knockout of NMDARs in order to examine the perturbations caused by disrupting specific circuits. This study examines several electrophysiological and behavioral measures disrupted in autism using a PV-selective reduction in NMDA R1 subunit. Mouse electroencephalograph (EEG) was recorded in response to auditory stimuli. Event-related potential (ERP) component amplitude and latency analysis, social testing, and premating ultrasonic vocalizations (USVs) recordings were performed. Correlations were examined between the ERP latency and behavioral measures. The N1 ERP latency was delayed, sociability was reduced, and mating USVs were impaired in PV-selective NMDA Receptor 1 Knockout (NR1 KO) as compared with wild-type mice. There was a significant correlation between N1 latency and sociability but not between N1 latency and premating USV power or T-maze performance. The increases in N1 latency, impaired sociability, and reduced vocalizations in PV-selective NR1 KO mice mimic similar changes found in autism. Electrophysiological changes correlate to reduced sociability, indicating that the local circuit mechanisms controlling N1 latency may be utilized in social function. Therefore, we propose that behavioral and electrophysiological alterations in PV-selective NR1 KO mice may serve as a useful model for therapeutic development in autism. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
5. Thompson RM, Johnston S. {{Use of Social Stories to Improve Self-Regulation in Children with Autism Spectrum Disorders}}. {Phys Occup Ther Pediatr};2013 (Feb 26)
ABSTRACT A multiple baseline across participants design was used to evaluate the effects of Social Stories to help preschool-aged children with characteristics of Autism Spectrum Disorders (ASD) increase their engagement in functional behaviors and use sensory integrative-based strategies to promote self-regulation. Three children, 3-5 years old, from a self-contained preschool classroom were selected to participate in the study. The intervention package included reading individualized Social Stories that discussed desired behaviors and self-regulation strategies. The researchers measured the percentage of intervals in which participants engaged in desired behaviors. The frequency of desired behaviors increased for all participants. The use of self-regulation strategies varied across participants. These findings suggest that the intervention was successful in increasing desired behaviors of the three children. Further research is recommended on the effectiveness of embedding sensory integrative strategies into Social Stories. Practitioners may consider the use of Social Stories as a tool to increase independence and encourage self-regulated behaviors in children with characteristics of ASD.
