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Pragmatic disorders and their social impact
Pragmatic disorders in children and adults have been the focus of clinical investigations for approximately 40 years. In that time, clinicians and researchers have established a diverse range of pragmatic phenomena that are disrupted in these disorders. Pragmatic deficits include problems with the use and understanding of speech acts, the processing of non-literal language, failure to adhere to Gricean maxims in conversation and discourse deficits. These deficits are found in several clinical populations including individuals with autistic spectrum disorders, schizophrenia, traumatic brain injury and right-hemisphere damage. However, what is less often investigated is the social impact of pragmatic disorders on the children and adults who are affected by them. In this paper, I examine what is known about pragmatic disorders in these clinical groups. I then consider the wider social consequences of these disorders, where consequences are broadly construed to include factors that act as indicators of social adjustment
Psychopathology in Down Syndrome
The main aim of this section is to provide clinicians with a guide to the prevalence of psychopathologies, associated factors, and their treatment in children with Down syndrome (DS). Attention-deficit/hyperactivity disorder (ADHD), behavioral disorders, depression, and autism are more common in DS than the normal population. However, the incidence of psychopathology is generally lower in DS than in other diseases that cause mental retardation. While writing this chapter, approximately 200 articles in electronic databases were scanned using the keywords “Down Syndrome and Psychopathology,” “Down Syndrome and Mood Disorder,” “Down Syndrome and Autism,” “Down Syndrome and Anxiety,” “Down Syndrome and Catatonia,” and “Down Syndrome and Behavioral Disorder.” Psychopathologies in DS will be presented in eight subtitles beginning with the most often diagnosed. It is important to perform psychological evaluations of patients with DS during routine follow-ups. Comorbid diseases (obstructive sleep apnea, cardiac pathologies, etc.) should be taken into account when choosing drugs
Language acquisition in developmental disorders
In this chapter, I review recent research into language acquisition in developmental disorders, and the light that these findings shed on the nature of language acquisition in typically developing children. Disorders considered include Specific Language Impairment, autism, Down syndrome, and Williams syndrome. I argue that disorders of language should be construed in terms of differences in the constraints that shape the learning process, rather than in terms of the normal system with components missing or malfunctioning. I outline the integrative nature of this learning process and how properties such as redundancy and compensation may be key characteristics of learning systems with atypical constraints. These ideas, as well as the new methodologies now being used to study variations in pathways of language acquisition, are illustrated with case studies from Williams syndrome and Specific Language Impairment
Exploring face perception in disorders of development: evidence from Williams syndrome and autism
Individuals with Williams syndrome (WS) and autism are characterized by different social phenotypes but have been said to show similar atypicalities of face-processing style. Although the structural encoding of faces may be similarly atypical in these two developmental disorders, there are clear differences in overall face skills. The inclusion of both populations in the same study can address how the profile of face skills varies across disorders. The current paper explored the processing of identity, eye-gaze, lip-reading, and expressions of emotion using the same participants across face domains. The tasks had previously been used to make claims of a modular structure to face perception in typical development. Participants with WS (N=15) and autism (N=20) could be dissociated from each other, and from individuals with general developmental delay, in the domains of eye-gaze and expression processing. Individuals with WS were stronger at these skills than individuals with autism. Even if the structural encoding of faces appears similarly atypical in these groups, the overall profile of face skills, as well as the underlying architecture of face perception, varies greatly. The research provides insights into typical and atypical models of face perception in WS and autism
Rett Syndrome
Rett syndrome is a thief! It robs little girls of their projected life. It lulls their families into a false sense of security while their little girls develop normally for 6 to 18 months. Then it insidiously robs them of their skills and abilities until they are trapped in a body that won't respond. These little girls are called "silent angels" (Hunter, 2007).
Rett syndrome (RS) was originally identified in 1966 by the Austrian neurologist Andreas Rett, but his research and findings were written in an obscure form of the German language the medical world could not and did not translate. It wasn't until 1983, that Rett syndrome was re-identified and labeled as its own disorder (Hunter, 2007). The Rett Syndrome Research Foundation (2006) summarizes the condition best with:
Rett syndrome is a debilitating neurological disorder diagnosed almost exclusively in females. Children with Rett syndrome appear to develop normally until 6 to 18 months of age when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. Rett syndrome leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure. (Retrieved October 14, 2008 from http://www.rsrf.org/about_rett_syndrome/)
Research is ever going to regards to Rett syndrome. What is known as of now is that Rett syndrome is caused by a mutation of the gene MECP2. It is not passed down in families and it knows no ethnic boundaries. The majority of Rett girls live to adulthood (RSRF, 2006). The male child doesn't usually survive birth with Rett syndrome
Psychiatric morbidity in older people with moderate and severe learning disability (mental retardation). Part I: development and reliability of the patient interview (the PAS-ADD)
This paper describes the development of the PAS-ADD, a semistructured clinical interview for use specifically with patients with learning disabilities, based on items drawn from the PSE. The PAS-ADD includes a number of novel features including: parallel interviewing of patient and informant; a three-tier structure to provide a flexible interview appropriate to the patient's intellectual level; use of a memorable 'anchor event' in the patient's life to improve time focus; and simplified wording, improved organisation and lay out. Inter-rater reliability was investigated using an experimental design in which two raters viewed and re-rated videotaped PAS-ADD interviews which had been conducted by an experienced clinician. Reliability results compared favourably with those obtained in a major study of PSE reliability with a sample drawn from non-learning disabled individuals. Mean kappa for all items was 0.72. Other indexes of reliability were also good. In the current phase of development, the PAS-ADD is to be expanded to include further diagnostic categories, including schizophrenia and autism. The new version will be updated for use with ICD-10 criteria
TITE: ESTABLISHING AN INTEGRATED DIAGNOSTIC PROFILE OF AUTISM SPECTRUM DISORDER (ASD) THROUGH THE USE OF ESSENCE FRAMEWORK. THE CASE STUDY OF A 3-YEAR-OLD INFANT
Neurodevelopmental disorders appear in early childhood and cause serious impairment in several areas. These are characterized by damages or delays in development of functions closely associated with the biological aging of the central nervous system. Neurodevelopmental disorders include speech and language disorders, learning disorders, motor and divisive disorders such as Autism Spectrum Disorder (ASD). Aiming to explore the various phenotypic characteristics of these disorders as well as their co-morbidity or coexistence, an emerging body of studies stressed the importance of both early multidisciplinary assessment and intervention in the framework of these disorders. Due to the complexity of neurodevelopmental disorders there should be specific diagnostic groups so as to apply timely and multifactorial diagnoses. Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations (ESSENCE) are considered as an assessment concept that could contribute to multifactorial early diagnosis of neurodevelopmental disorders. Early, adequate, and comprehensive diagnosis conduces to early, effective, and well adapted to individual’s needs intervention programs. In the current study, the ESSENCE framework was used as the key diagnostic approach for both definitive and multifactorial diagnosis of a 3-year-old infant with a wide range of impairments.  Article visualizations
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