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Statistically signifcant: In a study allergy medicine okay while breastfeeding generic 10mg claritin, it is said that the differences are statistically signifcant if the likelihood of the differences in effect found when two groups are compared is less than a previously defned signifcance level; that is allergy treatment melbourne buy cheap claritin 10 mg online, that it is not very likely that the differences observed between compared treatments or groups are due to allergy treatment services order cheap claritin online chance allergy symptoms wheat intolerance order claritin overnight delivery. However, it should be taken in to account that a difference between treatments may be statistically signifcant, but this does not always mean that the difference found is "clinically signifcant" or relevant. Stratifcation: Technique to control the effect of the confusion variables on the data analy sis. It consists in assessing the association in homogeneous categories of the confusion variable. Study case (synonyms: anecdote, his to ry of a case, information of an individual case): Non-controlled observational study that includes an intervention and an outcome in an individual person. Depending on the characteristics of the person and the exposure time to its radiations, it is going to produce a series of repercussions on the organism that may be positive or negative. A positive aspect is the role that the sun plays in preventing certain avitaminosis (lack or decrease of vitamins). More specifcally, sun radiations favour the production of the vitamin D necessary to metabolise calcium and avoid rickets (a disease characterised by bone deformation, which mainly affects boys). Regarding negative aspects on the skin, inadequate sun exposure produces disorders that may be expressed in the short or long term. Statistical methods (meta-analyses) may or may not be used to analyse and sum up the results of the studies included. Extent to which a result (or a measure or a study) probably comes near the truth and is free from bias (systematic errors). It is normally accompanied by a word or a sentence that qualifes it; for example, in the context of making a measurement, expressions such as construction validity, content validity and criterion validity are used. The expression, internal validity, is sometimes used to distinguish this type of validity (the degree to which the observed effects are true for the people of the study) from the external validity or generability (the degree to which the observed effects in a study re ally refect what is expected to be found in a broader target population than the people included in the study). The burden of musculoskeletal diseases in the general population of Spain; results from a national survey. Health care and burden of illness in systemic lupus erythema to sus compared to rheuma to id arthritis: results from the national database of the German Collaborative. European League Against Rheumatism recommendations for moni to ring patients with systemic lupus erythema to sus in clinical practice and in observational studies. Consenso de la Sociedad Espanola de Reuma to logia sobre el uso de terapias biologicas en el lupus eritema to so sistemico. Implicacion de Pacientes en el Desarrollo de Guias de Practica Clinica: Manual Me to dologico. Morbidity and mortality in systemic lupus erythema to sus during a 10-year period: a comparison of early and late manifestations in a cohort of 1,000 patients. The causes of death in Korean patients with systemic lupus erythema to sus over 11 years. Defnition of risk fac to rs for death, end stage renal disease, and thromboembolic events in a monocentric cohort of 338 patients with systemic lupus erythema to sus. Long-term Survival of Southern Chinese Patients With Systemic Lupus Erythema to sus. Current causes of death in systemic lupus erythema to sus in Europe, 2000-2004: relation to disease activity and damage accrual. Damage and mortality in a group of British patients with systemic lupus erythema to sus followed up for over 10 years. High impact of antiphospholipid syndrome on irreversible organ damage and survival of patients with systemic lupus erythema to sus. Changing Patterns in Mortality and Disease Outcomes for Patients with Systemic Lupus Erythema to sus. Defning unclassifable connective tissue diseases: incomplete, undifferentiated, or bothfi Defning lupus cases for clinical studies: the Bos to n weighted criteria for the classifcation of systemic lupus erythema to sus. Updating the American College of Rheuma to logy revised criteria for the classifca tion of systemic lupus erythema to sus (letter). Development of au to antibodies before the clinical onset of systemic lupus erythema to sus. Au to antibodies predate the onset of systemic lupus erythema to sus in northern Sweden. Clinical criteria for systemic lupus erythema to sus precede diagnosis, and associated au to antibodies are present before clinical symp to ms. Systemic lupus erythema to sus: predic to rs of its occurrence among a cohort of patients with early undifferentiated connective tissue disease: multivariate analyses and identifcation of risk fac to rs. Hydroxychloroquine sulfate treatment is associated with later onset of systemic lupus erythema to sus. Systematic review of the epide miology of systemic lupus erythema to sus in the Asia-Pacifc region: prevalence, incidence, clinical features, and mortality. The effects of ethnicity on disease pat terns in 472 Orientals with systemic lupus erythema to sus. Clusters of clinical and immunologic features in systemic lupus erythema to sus: analysis of 600 patients from a single center. Systemic lupus erythema to sus in northwestern Spain: a 20-year epidemiologic study. Clinical manifestations and clinical syndromes of Filipino patients with sys temic lupus erythema to sus. Neuropsychiatric events at the time of diagnosis of systemic lupus erythema to sus: an international inception cohort study. Posterior reversible encephalopathy syndrome during systemic lupus erythema to sus: four new cases and re view of the literature. Pulmonary hypertension in sys temic lupus erythema to sus: prevalence, predic to rs and diagnostic strategy. Prevalence of the American College of Rheuma to logy clas sifcation criteria in a group of 162 systemic lupus erythema to sus patients from Croatia. Antiphospholipid syn drome: clinical and immunologic manifestations and patterns of disease expression in a cohort of 1,000 patients. Preliminary classifca tion criteria for the antiphospholipid sindrome within systemic lupus erythema to sus. Comparison of the primary and secondary antiphospholipid syndrome: a European multicenter study of 114 patients. Is antibody clustering predictive of clinical subsets and damage in systemic lupus erythema to susfi Clinical and prognostic value of au to antibodies in Puer to Ricans with systemic lupus erythema to sus. Systemic lupus erythema to sus: clinical and inmunological patterns of disease expression in a cohort of 1000 patients. Registro nacional de pacientes con lupus eritema to so sistemico de la Sociedad Espanola de Reuma to logia: objetivos y me to dologia. Systemic lupus erythe ma to sus in southern Spain: a comparative clinical and genetic study between Caucasian and Gypsy patients. Systemic lupus erythema to sus: clinical manifestations and immunological parameters in 194 patients. Systemic lupus erythema to sus in the elderly: clinical and immunological characteristics. Systemic lupus erythema to sus: a clinical and immunological study of 300 patients. Late onset systemic lupus erythema to sus in Northwestern Spain: differences with early-onset systemic lupus erythema to sus and literature review. Evaluation of mortal ity, disease activity, treatment, clinical and immunological features of adult and late onset systemic Lupus erythema to sus. Clinical features and prognosis of late-onset systemic lupus erythema to sus: results from the 1000 faces of lupus study. Clinical [corrected] features, course, and outcome in patients with late-onset disease. The clinical features and prognosis of lupus with disease onset at age 65 and older.

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We adjust We use only cases that have been either clinically or molecularly diagnosed this method to allergy forecast albany ny discount claritin 10mg online fit our needs and operate optimally on images of children with by relevant healthcare professionals allergy kc cheap 10 mg claritin, and au to allergy nonoxynol 9 symptoms generic claritin 10mg line matically exclude images of low genetic syndromes allergy medicine knocks me out order discount claritin, in order to identify a frontal face from the image background. This database is exposed We then detect 130 facial landmarks on the patient’s face (Fig. However, we believe that the DeepGestalt framework is able landmarks detection algorithm works in a chain of multiple steps, starting from to generalize well even when errors in training exist. We assume that the presence a coarse step of identifying a small number of landmarks up to a more subtle of such mistakes is small and is not creating a large bias in the learned model. The resulting face and landmarks detected are first used to geometrically For system evaluation, we built two test sets: normalize the patient’s face. Within a certain period of time, we sampled all diagnosed among patients and shows improved performance on recognition tasks such as face clinical cases of any of the syndromes supported at the time by DeepGestalt verification32. We removed images that were part of our training set and the aligned image and its corresponding facial landmarks are then processed ignored duplicate images. In order to maintain similarity to clinical usage, no through a regions genera to r, which creates multiple predefined regions of interest exclusions based on age or ethnicity were performed. The final step The test set is skewed to wards ultrarare syndromes, 65% of the syndromes in the preprocessing stage is to scale each facial cropped region to a fixed size of are present in only 1 to 5 images and 35% in 6 to 42 images. This distribution of patients and syndromes mirrors the prevalence of rare syndromes and is Phenotype extraction and syndromes classification. We composed a new test set of 329 images covering 93 has its own specialized knowledge and shares information with other neurons. Each layer is typically also followed by a links to images and relevant annotations is provided in Supplementary Table 6. The layers closer to the input extract low-level information, such as edges and corners from images, whereas In order to create a high-quality test set, we applied a set of data-pruning rules layers closer to the output usually aggregate information from previous layers in to on the full London Medical Databases dataset of thousands of images. This structure allows the network to extract information images with no frontal face, images of bad quality or where the subject was under from the input for a specific objective function (classification or other). Each layer’s 1 or over 18 years old, and images where the subject was occluded (wearing parameters (weights) are initialized as random and updated incrementally while glasses for example). In this test set, 80% of the syndromes presented in only 1 to using training data samples, where the true class or value is known. Given a syndrome (see Supplementary Table 2 for demographic and clinical information large and sufficiently variable training set, these networks learn a generalizable and about the dataset). Images are au to matically processed within the same shown to be an effective way to extract information from images. First, we learn a general face representation and then fine-tune it in to the Training. Our backbone architecture is based on that suggested by are then fine-tuned for the genetic syndromes classification task. We train separately for each facial crop, and architecture is similar to that described14 but with several modifications, including combine the trained models to form a robust facial representation. Once the general face representation model is obtained, we fine-tune the training is done using Keras40 with TensorFlow41 as the backend. In practice, this step acts as a transfer learning superior results compared to other known initializations. After 40 epochs (an epoch is one pass of training on the full dataset), Code availability. In the fine-tuning phase, we replace the final layer output to match the number of syndromes in training. We found that the initialization for the fine-tuned layer Data availability is very important, and the best results are achieved when using a modified version the data that support the findings of this study are divided in to two groups, of Xavier Normal Initializer44. We experimented with different scales of Xavier published data and restricted data. Published data are available from the Normal Initializer and found that the best result was with a scale of 0. No weight decay or kernel regularization is used, since we found protect patient privacy. Each region is References randomly augmented by rotation with a range of 5 degrees, small vertical 32. In Advances in Neural Information Processing Systems 2012 of 5fi / 180) and random zoom (zoom range of 0. In Advances in Neural Information Processing the face recognition task and an additional 500 epochs for the fine-tune step. Targeting ultimate accuracy: to human predictions is measured with the P value, calculated using the population face recognition via deep embedding. Deep inside convolutional percentage of images where the model predicted the correct syndrome within networks: visualising image classifcation models and saliency maps. Tensorfow: large-scale machine learning on statistical significance using the P value with the two-sided population proportions heterogeneous distributed systems. This test measures the difference between two proportions on a single binary abs/1603. Delving deep in to rectifers: surpassing subjected to a null hypothesis significance test. Understanding the difculty of training deep this allows us to sample the accuracy distribution and to calculate its P value. In Proceedings of the thirteenth international Conference on Artifcial Intelligence and Statistics 249–256 (2010). This form is intended for publication with all accepted life science papers and provides structure for consistency and transparency in reporting. Every life science submission will use this form; some list items might not apply to an individual manuscript, but all fields must be completed for clarity. For further information on the points included in this form, see Reporting Life Sciences Research. For further information on Nature Research policies, including our data availability policy, see Authors & Referees and the Edi to rial Policy Checklist. Refer to the help text for what text to use if an item is not relevant to your study. For final submission: please carefully check your responses for accuracy; you will not be able to make changes later. Multi-class Gestalt model test set size of N=502, was sampled from real clinical cases submitted to the Face2Gene application, described in the Methods section. Within a certain period of time, we sampled all real diagnosed clinical cases of any of the syndromes supported at the time by DeepGestalt in Face2Gene. We removed images that were part of our training set and ignored duplicate images. In order to maintain similarity to clinical usage, no exclusions based on age or ethnicity were performed. When building the test set, we made sure that all images of each subject are either in the training set or in the test set. In addition we sampled N=329 images from the London Medical Database, as described in the supplementary materials. We excluded images with no frontal face, images of bad quality, or where the subject is under 1 or over 18 years old, images where the subject is occluded (wearing glasses for example), etc. Exclusion criteria 1 All data that was used to test the system in the different experiments, was excluded from the training sets. Exclusion criteria 2 We use only cases that have been either clinically or molecularly diagnosed by relevant healthcare professionals Exclusion criteria 3 au to matically exclude images of low resolution and images where no frontal face was detected. Replication Describe the measures taken to verify the reproducibility In order to reproduce all experiments described in this paper we created a snapshot of the of the experimental findings. More specifically, we use version control to ols (Git) and docker images to make sure that our experiments are reproducible. In addition, to allow a reproducible research, we composed a new test set of 329 images covering 93 syndromes, published in the London Medical Database. Randomization Describe how samples/organisms/participants were Multi-class Gestalt model During a period of several weeks, we sampled all diagnosed real ll d l 1 Describe how samples/organisms/participants were clinical cases of any of the 216 syndromes supported at the time by DeepGestalt in the allocated in to experimental groups. This process included verification that the sampled images were not part of the training images, remove duplicates etc. The test set is skewed to wards ultra-rare syndromes, 65% of the syndromes are present in only 1 to 5 images and 35% in 6 to 42 images.

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In certain breeding colonies allergy treatment elderly buy claritin in india, we use a comparable formulation that is a minimum of 10% fat (LabDiet 5K20) allergy testing los angeles claritin 10 mg with visa. For additional information allergy shots dangerous purchase claritin 10 mg with mastercard, telephone us at 1-800-422-6423 (North America) or 1-207-288-5845 (International) or email us at micetech@jax allergy medicine dosage for infants buy cheap claritin on line. We check au to claved feed for hardness and clumping, which are common consequences of the au to claving process. To ensure that the au to claved pellets are not to o hard for the mice, we regularly conduct hardness tests on our au to claved feed. To break up any clumping, animal care technicians break up large chunks while the feed is in the bag, and break up smaller clumps as required when feeding the mice. To precisely determine the nutrient levels in the diet and evaluate the performance of our au to claves, we use an independent testing labora to ry to analyze feed twice yearly. Normally we test protein, fat, fiber, ash, calcium, and phosphorus levels in January and July; we test vitamin A, vitamin B, and lysine in April and Oc to ber. Guidelines for safe water Water for mice must be treated to minimize microbiological contamination. To date, although no organization has published specific guidelines for safe water, several water treatment methods—including au to claving, acidification, hyperchlorination, reverse osmosis, and ultraviolet light exposure—are in common use. There is no standard for the type of water to provide mice: tap, bottled, or distilled. Tap water has widespread variations, such as in mineral content, general hardness, or presence of flouride, but the generally accepted convention is that if water is good enough for the community, it is good enough for the mice. Please note, however, that this axiom does not recognize the potential for the influence of water variation on research results. And, because there is no concerted effort to standardize water composition, the best general strategy for a researcher is to use a consistent source of water and consistent treatment method. If you have an au to matic watering system, this means following appropriate maintenance per the manufacturer’s recommendations. If you use water bottles, they should be sanitized—or even sterilized— between uses. In our trials, this pH level suppressed growth of Pseudomonas aeruginosa for more than five weeks. Water bottles are filled, capped, and wrapped in plastic in a central facility and shipped to individual mouse rooms. The Jackson Labora to ry Handbook on Genetically Standardized Mice Chapter 10: Food and Water—Nutritional and Health Implications 227 10. Gamma radiation for sterilizing the carcasses of foot-and-mouth disease virus infected animals, Microbiological problems in food preservation by irradiation. The concentrations and ratio of dietary calcium and phosphorus influence development of nephrocalcinosis in female rats. Effect of irradiation on protein and amino acids in labora to ry rodent diet, Decontamination of animal feeds by irradiation. Observations on the influence of irradiation on fat and vitamin A in dry labora to ry cat diets, Decontamination of animal feeds by irradiation. Body weight increment and length of life: the effect of genetic constitution and dietary protein. Natural-ingredient diets: managing the variation in dietary nutrient concentrations. Effect of crude fat and crude protein on reproduction and weaning growth in four strains of inbred mice. Effects of life-long dietary protein restriction on mortality, growth, organ weights, blood counts, liver aldolase and kidney catalase in Balb/C mice. Co-variance of chemically and his to logically analyzed severity of dystrophic cardiac calcification in mice. Long-term effects of excess protein and phosphorus on bone homeostasis in adult mice. The Jackson Labora to ry Handbook on Genetically Standardized Mice 229 Chapter 11: Recordkeeping and Identification of Mice Joanne M. In a production colony, accurate records allow you to track—and maximize—production of your colony and moni to r the health and genetic integrity of your mice. In a research colony, accurate recordkeeping is a manda to ry requirement to avoid the corruption of data. The objective of this chapter is to provide some guidelines for recordkeeping activities necessary in both production and research colonies. We’ll also explain some of the recordkeeping strategies we use at the Jackson Labora to ry. Identification methods the five most common ways of identifying individual mice are ear punch, ear tag, tat to o, to e clip, and microchip. Identification Advantages Disadvantages method Ear punch • When done by experienced technician, • Cannot be administered until mouse procedure is quick and accurate. For less experienced technicians, it may be necessary to anesthetize the mouse to accommodate more legible punching. Ear tag • When done by experienced technician, • More expensive than ear punching. Tat to o • On all but heavily pigmented tails, tat to o • When used on infant mice, tat to os remains visible throughout the mouse’s fade as animal grows. Toe clipping • Unambiguous method for identifying • Not recommended for weanlings or pups after 4 days of age. Microchip • Provides unambiguous, non-invasive • Mice must be 4–5 weeks of age (subcutaneous identification. The Jackson Labora to ry Handbook on Genetically Standardized Mice Chapter 11: Recordkeeping and Identification of Mice 231 11. What we do at the Jackson Labora to ry We use multiple methods of mouse identification at the Jackson Labora to ry. If we need to identify specific mice in our production colonies, we use ear punches (Figure 11. For some studies, such as aging studies, when it is essential that identifiers are readable for more than one year, we use microchips. When we need to unambiguously identify 15 or fewer mice, we sometimes use a subset of the codes—the punches for 01, 03, 10, and 30, which are on the rostral and caudal edges of the ear pinnae and are very easy to distinguish from each other. Using this method, codes would represent just the following numbers: 1, 3, 4, 10, 11, 13, 14, 30, 31, 33, 34, 40, 41, 43, 44. This system allows our colony managers to unambiguously identify and remove any mice that could compromise the genetic integrity of the inbred line. Keeping day- to -day records Keeping accurate records for an entire colony of mice is a challenge. For some mice, the most relevant data represent their ancestry and birthdates; for other mice, relevant data must cover the animal’s entire life, including dates and effects of treatments and date of death. Over the years at the Jackson Labora to ry, we have developed some recordkeeping strategies and techniques that work for our production colonies as well as our research colonies. Other information generally includes strain or genotype, generation, and dates of birth and weaning. Breeding records also might include pedigree number (if applicable); dates of mating setup, observation of vaginal plugs (if applicable), dates of parturition; quantities and sexes of pups born and weaned; date retired from breeding; other observations. In a research facility, daily recordkeeping can also include treatments, dates of treatments, date of death, and reason for death. The Jackson Labora to ry Handbook on Genetically Standardized Mice Chapter 11: Recordkeeping and Identification of Mice 233 Technicians without access to a data entry program must handwrite information on cage cards, and perhaps in pedigree books. To avoid problems with illegible handwriting, we recommend the use of either sharpened pencils with lead of a medium hardness (greater than 2. Softer lead may smear, standard ink may bleed, and markers with broad or flattened tips may create unclear text or numbers. As examples, in a study that relies on necropsies, both the person who necropsies the mice and the pathologist who reads the reports must know exactly what distinguishes a “lump” from a “light pink mass” from a “tumor. Remember that, if and when you need records (for example, if you suspect genetic contamination), you probably will not have the luxury of time to search through thousands of records to find the ones you need. Production and reposi to ry colonies In our production and reposi to ry colonies we have recently implemented a state-of-the-art computer system that integrates our colony management, ordering, and invoicing systems. Once an order is placed, shipping documents and invoices are au to matically created, speeding delivery and simplifying billing. The data analysis features of our system enable our colony managers to easily review breeding records and to manage anticipated requirements for mice so they can set up breeding accordingly. Research colonies In our research colonies, it is the responsibility of investiga to rs to maintain and organize their own data.

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These features include upslanting allergy testing geelong buy claritin visa, widely spaced eyes allergy shots louisville ky purchase generic claritin online, prominent philtrum allergy medicine during pregnancy 10 mg claritin otc, and full everted lips allergy treatment uk order cheap claritin line. The hands may also show minor anomalies, including clinodactyly or short fourth metacarpals [14]. Autism spectrum disorders are also fairly common in those with this microdeletion, having been reported in at least 20%, depending on the mode of ascertainment [15]. These are rather variable, but can include fiat facial profile, hypertelorism, and smooth philtrum. Recently, it has been reported that obesity or overweight are relatively more common in individuals with this deletion who are more than 4 years of age, becoming a constant manifestation in those in their teens or older [16]. Phenotypic man ifestations include low birth weight, severe neonatal hypo to nia, poor feeding, and a dysmorphic facial appearance, which includes a long face, blepharop to sis, so-called pear-shaped nose, broad chin, and apparently low-set ears. None of these conditions had been recognized prior to the institution of microarrays in the diagnostic reper to ire, and it is expected that more relatively common microdeletion or microduplication syndromes will be described over time. A well-known example of this is the association of Williams syndrome with the deletion of 7q11. In this situation, there have been one or more reports in the literature, but there is a less consis tent phenotype among the various reports. Marker chromosomes may also be missed, depending on the size, marker composition, and array coverage of the specific chromosomal area [21]. Detection of mosaicism has been reported, but the accuracy of detecting low levels described by some groups has been questioned by others [19, 21]. However, it may be reasonable to screen for creatine deficiency disorders, which are relatively common and may be treatable, and congenital disorders of glycosylation, because regression (a hallmark of metabolic disorders) is often not present [2, 22]. Coupled with microarray analysis and testing for trinucleotide repeat expansion conditions. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an Institute of child Neuropsychiatry. Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Huffmeier U, Thiel C, Ruschendorf F, Nurnberg P, Reis A, Trautmann U. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Clinical implementa tion of chromosomal microarray analysis: summary of 2513 postnatal cases. A new chromosome X exon-specific microarray platform for screening of patients with X-linked disorders. Toriello Abstract Numerous genetic syndromes have had the cognitive and behavioral components of the phenotype delineated, leading to improved diagnosis of the con dition, as well as to better management and interventional approaches. This article is a review of some of what is known about the neurodevelopmental aspects of some of the more common genetic syndromes. Introduction Although the cognitive aspects of various syndromes have been recognized for years, more recently clinical geneticists and others have come to recognize the importance of delineating the behavioral profile as well. As defined by some, the behavioral phenotype encompasses mo to r, cognitive, communicative, and social aspects of the specific condition under study [1]. From a diagnostic standpoint, the behavioral phenotype may be as, if not more, important than clinical features in terms of recognizing the syndrome. Additional information that can be gained from studying cognitive and behav ioral phenotypes of individuals with syndromes is that we gain an understanding of genetic infiuences on brain function, which can then be applied to both research and intervention [2, 3]. The following is a summary of what is known about the neurodevelopmental aspects of a number of genetic syndromes. This is not meant to be an exhaustive list but to provide insight in to what we know about some of these conditions. A unique behavioral profile is part of this phenotype and is characterized by (inappropriate) happy dispo sition with frequent laughter, often accompanied by hand fiapping. Results of evaluations of adaptive behavior scales found that the average adaptive behavior composite was 49, and individually correlated with the child’s cognitive abilities. However, there were differences among the dif ferent adaptive behaviors that were measured, with mo to r skills most impaired and socialization least impaired [4]. Speech impairment is generally considered to be severe, with none or limited use of words, although receptive speech is better than expressive speech [5]. Relatively consistent behaviors include frequent laughter or smiling, excitability. Additionally reported behaviors include feeding problems, fixation on food, hyperphagia, and increased heat sensitivity. The laughter, which is thought to be pathognomonic, has been further studied to determine the context in which it occurs. It was initially thought to be unprovoked and to occur inappropri ately; more recently it has been suggested to be related to context, although it may occur in situations that are not considered to be pleasant. It may also increase during periods of anxiety; however, in general it does appear to occur more frequently in social situations and less in nonsocial situations [1]. The cognitive deficits can be characterized as deficiencies in learning, memory, and language, with morphosyntax, verbal short term memory, and explicit long-term memory usually impaired, and visuospatial short-term memory, associative learning, and implicit long-term memory usually preserved [8]. Since praxis is involved in many skills of everyday living, it was not surprising that a correlation between praxis skills and function on the daily living skills domain of the Vineland Adaptive Behavior Scales was found. As a result of finding a specific profile of praxis deficits, the authors recommended that this information be used for intervention planning by occupational therapists and other practitioners. The latter two conditions manifest as noncompliance, disobedience, or aggressive behavior. Conversely, older adults have also been well characterized, given the significant frequency of dementia in this group. However, Adams and Oliver [11] found that behavioral changes were more common in those with cognitive decline, as evidenced by a number of neuropsychological tests. Fragile X Syndrome Fragile X syndrome is considered to be the most common cause of inherited cognitive impairment. The physical phenotype is fairly subtle, with males generally having a long face, large and/or pro truding ears, average to large head size, and after puberty, macroorchidism. However, when there are 59–200 repeats, there is said to be a premutation in that gene present. Above 200 repeats, the gene is considered fully mutated, and as a result, fully methylated (shut off) and not expressed. The remaining range of repeats, 41–58, is said to be in the intermediate or gray zone [12]. Both males and females can have premutations or full mutations, with the effect determined by their genetic status. The mutation can be present in every cell or only in some cells (in which case the individual is said to be mosaic). Males with the full mutation have been described as having a characteris tic cognitive and behavioral phenotype. This includes deficits in processing and remember ing sequential information, short-term memory deficits, visuospatial abnormalities, visual–mo to r coordination deficits, and pragmatic language deficits. However, strengths include vocabulary, verbal working memory, and long-term memory for meaningful and learned information [13]. In some instances, males may have a full mutation which is not methylated, so their cognitive ability falls within the “normal” range. However, both males (and females) with fragile X can also exhibit hyperactivity, 6 Neurodevelopmental Disorders in Common Syndromes 83 impulsivity, tantrums, aggression, destructiveness, and self-injurious behavior [15]. Males with premutations have not been as well studied, although the studies that have been done have found that these males are more likely to have alcohol dependence, obsessive–compulsive disorders, learning dis ability, and executive function deficits.

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