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Prevalence and Genetic Epidemiology of Developmental Disabilities
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Coleen A. Boyle, Kim Van Naarden Braun, Marshalyn Yeargin-Allsopp
Initial efforts to define more homogeneous subgroups in families with autism have focused on linkage analyses between autism and the candidate region on chromosome 15q11–q13. While much discussion has ensued about an association between autism and the chromosome 15q11–q13 region, evidence from linkage studies has been inconsistent and LOD scores have not exceeded 2.0 (128,129). Shao et al. (130) and Nurmi et al. (131) conducted principle components factor analyses to identify more homogeneous phenotypic subgroups of autism and examined their association with this chromosomal region. Shao et al. (130) found that by the analysis of families sharing high scores on the factor of “repetitive behaviors/stereotypical patterns” (a domain on the ADI-R), LOD scores increased from 1.5 to 4.7. Nurmi et al. (131) saw a similar trend for families with “savant skills”, with an increase in LOD scores from 0.6 to 2.6. Based on these results, the investigators concluded that analyses using homogeneous subgroups may be powerful for mapping disease-susceptibility genes in complex traits.
Twenty Years On: Problems of Historical Methodology in the History of Health *
Published in Roy Porter, Andrew Wear, Problems and Methods in the History of Medicine, 2018
If it is possible to estimate the demographic situation of Brittany at the end of the Ancien Régime, defining the principal diseases from which the province then suffered proves to be much more difficult. In fact, today’s medical diagnosis stands— grosso modo —at the culmination of two ‘scientific revolutions’: the first, clinical and anatomo-pathological; the second, bacteriological and Pasteurian. For a century, the custom has been to pronounce a diagnosis based on aetiology. At the end of the 18th century, however, even if the recognition of certain signs reminds one a little of clinical medicine (for example, smallpox), medical diagnosis was based on a chain of symptoms that did not define, in today’s terms, a morbid entity. Indeed, at the end of the 18th century one is in the presence of a medicine that, while definitely learned (savant) is of a pre-scientific type. Medical knowledge was tied to the tradition of Hippocrates and Galen, and reasoned according to categories that have become obsolete: the humours, the temperaments and the elements. Further, this scholarly medicine was subdivided into several streams of thought,16 which pronounced different diagnoses and prescribed conflicting treatments. Finally, one should beware of the slippages of meaning effected by vocabulary: the cold (rhume), under the pen of a physician of that time, generally designated a discharge or flux, not necessarily nasal, as is the meaning of the Greek rheuma.17
Neurodevelopmental Disorders: ADHD and Autism
Published in Hilary McClafferty, Integrative Pediatrics, 2017
Clinical manifestations of autism are expressed across a range of behaviors and may include deficits in social verbal interaction, social reciprocity and facial recognition; repetitive behaviors; and narrowed interests. Delayed speech in early childhood can be seen. Some children with autism cannot tolerate social gatherings and if forced may become agitated or even violent. Other children with autism have savant characteristics, which can manifest in a variety of extraordinary skills and talents (Treffert and Rebedew 2015).
Tetrahydrocannabinol and cannabidiol oromucosal spray in resistant multiple sclerosis spasticity: consistency of response across subgroups from the SAVANT randomized clinical trial
Published in International Journal of Neuroscience, 2020
Sven G Meuth, Thomas Henze, Ute Essner, Christiane Trompke, Carlos Vila Silván
Methods applied in the SAVANT study were reported previously [13]. Briefly, SAVANT was a prospective, randomized, parallel-group, double-blind, placebo-controlled trial of THC:CBD oromucosal spray (nabiximols) as add-on therapy to optimized standard antispasticity medication in adults with moderate to severe MS spasticity. The initial study phase, consisting of a 4-week single-blind treatment period with THC:CBD oromucosal spray (nabiximols), aimed to identify initial responders (defined as patients achieving ≥20% improvement from baseline on the 0-10 spasticity Numerical Rating Scale [NRS]) as per the approved label [8]. Initial responders entered a 1–4 week washout phase intended to minimize the carry-over effects of active treatment. Only early responders with ≥80% reduction in their initial NRS improvement during washout were eligible for randomization to active treatment or placebo in the 12-week double-blind treatment phase. Study assessments were conducted at screening, start of initial treatment period, start of washout phase, randomization to double-blind treatment; and at scheduled control visits at weeks 4, 8, and 12 of double-blind treatment.
Review of cluster analysis of phenotypic data in Autism Spectrum Disorders: distinct subtypes or a severity gradient model?
Published in International Journal of Developmental Disabilities, 2020
Christine K. Syriopoulou- Delli, Elpis Papaefstathiou
Hu and Steinberg (2009) attempted to indentify subgroups of ASD in a large sample, using multiple clustering methods, and proceeded to gene expression analysis. Cluster analysis resulted in four distinct phenotypic subgroups. One group included individuals with severe language impairment, the second those with milder symptoms across all domains, the third those with higher levels of savant skills, and the fourth those with intermediate severity across all domains. The average of item scores for each group across all domains suggested phenotypic distinction between the groups, although some quantitative differences in severity between the savant and the mild groups were observed across the functional and behavioural domains. This study thus offered support for both the discrete phenotype (subtype) model and the gradient model, by identifying sets of genes that are expressed differentially, either quantitatively or qualitatively among ASD subgroups.
Relying on Scripts versus not Relying on Scripts
Published in American Journal of Clinical Hypnosis, 2020
Fortunately, in learning hypnosis we are not rehearsing physical attacks. Nevertheless, beginners, unless they are savants, need to have an understanding of what to do. They need, in most cases, scripts or programs to map out the sequence of words, ideas, and key elements of the interventions. Beginners should also receive some essential heuristics. It is necessary to have both so one can then begin to deviate in the proper direction from the script that was committed to memory by the therapist who is observing the client’s response.