Soil Instability in Tundra Vegetation

Author Institution: U. S. Geological Survey, Washington 25, D. C

Communication in Individuals with Rett Syndrome: an Assessment of Forms and Functions

In the present study we assessed the forms and functions of prelinguistic communicative behaviors for 120 children and adults with Rett syndrome using the Inventory of Potential Communicative Acts (IPCA) (Sigafoos et al. Communication Disorders Quarterly 21:77–86, 2000a). Informants completed the IPCA and the results were analysed to provide a systematic inventory and objective description of the communicative forms and functions present in each individual’s repertoire. Results show that respondents reported a wide variety of communicative forms and functions. By far most girls used prelinguistic communicative behaviors of which eye contact/gazing was the most common form. The most often endorsed communicative functions were social convention, commenting, answering, requesting and choice-making. Problematic topographies (e.g., self-injury, screaming, non-compliance) were being used for communicative purposes in 10 to 41% of the sample. Exploratory analyses revealed that several communicative forms and functions were related to living environment, presence/absence of epilepsy, and age. That is, higher percentages of girls who showed some forms/functions were found in those who lived at home, who had no epilepsy and who were relatively young

Aggression in Low Functioning Children and Adolescents with Autistic Disorder

BACKGROUND: Parents, caregivers and mental health professionals have often reported violence and aggression in children or adolescents with autistic disorder. However, most of these observations derived from anecdotal reports, and studies on frequency and characterization of aggression in autism remain limited. Our objective was to better characterize and understand the different types of aggressive behaviors displayed by a large group of individuals with autism in different observational situations. METHODOLOGY/FINDINGS: The study was conducted on 74 children and adolescents with autism and 115 typically developing control individuals matched for sex, age and pubertal stage. Other-Injurious Behaviors (OIB) were assessed in three observational situations (parents at home, two caregivers at day-care, a nurse and a child psychiatrist during blood drawing) using validated scales. The frequency of OIB was significantly higher in individuals with autism compared to typically developing control individuals during the blood drawing (23% vs. 0%, P<0 .01). The parents observed significantly less OIB in their children than caregivers (34% vs. 58%, P<0.05). In addition, the most frequent concurrent behaviors occurring just before the appearance of OIB in individuals with autism were anxiety-related behaviors and excitation according to the parental as well as the caregiver observation. CONCLUSIONS/SIGNIFICANCE: The results suggest that in a stressful situation, such as the blood drawing, individuals with autism release their stress through behaviors such as OIB, whereas typically developing individuals regulate and express their stress through cognitive skills such as mental coping strategies, symbolization skills with representation and anticipation of the stressful situation, social interaction and verbal or non-verbal communication. The findings underline also the key role of the environment in assessing OIB and developing therapeutic perspectives, with an individual who modulates his/her behavior according to the environment, and an environment that perceives this behavior and reacts to it with different tolerance thresholds according to the observers

Incontinence in Individuals with Rett Syndrome: A Comparative Study

Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) (n = 63), using an adapted Dutch version of the ‘Parental Questionnaire: Enuresis/Urinary Incontinence’ (Beetz et al. 1994). Also, incontinence in RS was compared to a control group consisting of females with non-specific (mixed) intellectual disability (n = 26). Urinary incontinence (UI) (i.e., daytime incontinence and nocturnal enuresis) and faecal incontinence (FI) were found to be common problems among females with RS that occur in a high frequency of days/nights. UI and FI were mostly primary in nature and occur independent of participants’ age and level of adaptive functioning. Solid stool, lower urinary tract symptoms and urinary tract infections (UTI’s) were also common problems in females with RS. No differences in incontinence between RS and the control group were found, except for solid stool that was more common in RS than in the control group. It is concluded that incontinence is not part of the behavioural phenotype of RS, but that there is an increased risk for solid stool in females with RS

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Purpose Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved. Methods Clinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various types ofSOX5 alterations. Functional consequences of selected substitutions were investigated. Results Microdeletions and truncating variants occurred throughout SOX5. In contrast, most missense variants clustered in the pivotal SOX-specific high-mobility-group domain. The latter variants prevented SOX5 from binding DNA and promoting transactivation in vitro, whereas missense variants located outside the high-mobility-group domain did not. Clinical manifestations and severity varied among patients. No clear genotype-phenotype correlations were found, except that missense variants outside the high-mobility-group domain were generally better tolerated. Conclusions This study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features

Are Children with Autism Spectrum Disorder Initially Attuned to Object Function Rather Than Shape for Word Learning?

We investigate the function bias-generalising words to objects with the same function-in typically developing (TD) children, children with autism spectrum disorder (ASD) and children with other developmental disorders. Across four trials, a novel object was named and its function was described and demonstrated. Children then selected the other referent from a shape match (same shape, different function) and function match (same function, different shape) object. TD children and children with ASD were 'function biased', although further investigation established that having a higher VMA facilitated function bias understanding in TD children, but having a lower VMA facilitated function bias understanding in children with ASD. This suggests that children with ASD are initially attuned to object function, not shape

Clinical and biological progress over 50 years in Rett syndrome

In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder. Here, we document the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, considering the lessons learned from both cell and animal models, and how they might inform future clinical trials. With a focus on the core criteria, we examine the relationships between genotype and clinical severity. We review current knowledge about the many comorbidities that occur in RTT, and how genotype may modify their presentation. We also acknowledge the important drivers that are accelerating this research programme, including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we highlight the major milestones since 1966, and what they mean for the day-to-day lives of individuals with RTT and their families

Communication intervention on the playground: A case study on teaching requesting to a young child with autism

This paper describes a playground-based communication intervention for a young child with autism. Opportunities for teaching the child to request more play were created at multiple points on the playground by momentarily interrupting the child's ongoing play using the behaviour chain interruption strategy (BCIS). In addition, probes were conducted to determine if the child would generalise his use of the requesting response to an earlier point in the routine and to a second teacher. There were no correct responses during baseline. With intervention, correct requests increased to a high level after approximately 100 instructional opportunities. This high level of correct requesting was maintained with a new teacher and generalised to an earlier point in the routine (i.e., when he was interrupted while on his way to the playground). The results suggest that the BCIS can be used to provide effective communication intervention on the playground