⒈ Fragile X Syndrome Analysis

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Fragile X Syndrome Analysis

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Introduction to Fragile X Syndrome

It reaches a consensus on classroom placement for the child, determines any devices or special assistance the child needs, and identifies the specialists who will work with the child. The special services team should evaluate the child on a regular basis. The team can chart progress and decide whether changes in treatment are needed for instance, changes to the IEP, in classroom placement, or in the services provided. A variety of professionals can help individuals with Fragile X syndrome and their families manage the symptoms of the disorder. Those with Fragile X might benefit from services provided by several different specialists:. But in many cases, medications are used to treat certain symptoms of Fragile X syndrome, as shown in the chart below. NICHD does not endorse or support the use of any of these medications in treating the symptoms of Fragile X syndrome, or for other conditions for which the medications are not FDA approved.

Medication is most effective when paired with therapy designed to teach new coping or behavioral skills. Not every medication helps every child. Please note that some of these medications carry serious risks. Others may make symptoms worse at first, or they may take several weeks to become effective. Doctors may have to try different dosages or combinations of medications to find the most effective plan. Families, caregivers, and doctors need to work together to ensure that a medication is working and that the medication plan is safe. Discuss any questions about medication with a healthcare provider.

Fragile X Syndrome The genetic disorder Fragile X syndrome, which results from mutations in a gene on the X chromosome, is the most commonly inherited form of developmental and intellectual disability. About Fragile X Syndrome. In addition, Fragile X can affect: Communication skills Physical appearance Sensitivity to noise, light, or other sensory information Fragile X syndrome is the most common form of inherited intellectual and developmental disability IDD. Inheriting Fragile X Syndrome Fragile X syndrome is inherited, which means it is passed down from parents to children. What causes Fragile X syndrome? Some people have a smaller mutation a lower number of repeats in their FMR1 gene, while others have big mutations a large number of repeats in the gene.

If the mutation is small, the body may be able to make some of the protein. Having the protein available makes the symptoms milder. The number of cells that have the mutation. Because not every cell in the body is exactly the same, some cells might have the FMR1 mutation while others do not. This situation is called mosaicism pronounced moh-ZAY-uh-siz-uhm. If the mutation is in only some of the cells, the person might not have any symptoms at all or only mild symptoms. Being female. Females have two X chromosomes XX , while males have only one. What are the symptoms of Fragile X syndrome? Intelligence and learning. Many people with Fragile X have problems with intellectual functioning. These problems can range from the mild, such as learning disorders or problems with mathematics, to the severe, such as an intellectual or developmental disability.

The syndrome may affect the ability to think, reason, and learn. Because many people with Fragile X also have attention disorders, hyperactivity, anxiety, and language-processing problems, a person with Fragile X may have more capabilities than his or her IQ intelligence quotient score suggests. When these children start to go through puberty, however, many will begin to develop certain features that are typical of those with Fragile X. These features include a narrow face, large head, large ears, flexible joints, flat feet, and a prominent forehead. These physical signs become more obvious with age. Behavioral, social, and emotional.

Most children with Fragile X have some behavioral challenges. They may be afraid or anxious in new situations. They may have trouble making eye contact with other people. Boys, especially, may have trouble paying attention or be aggressive. Girls may be shy around new people. Differences in ASD characteristics relative to males with FXS [ 35 , 36 , 49 , 58 ] were consistent with lower levels of atypicality which in turn may relate to higher adaptive functioning in girls.

No papers reported greater levels of difficulty for girls than boys in any specific area. However, it remains possible that there are specific ASD-related clinical concerns for this group. Anxiety and the presence of self-injurious behaviour were both strongly correlated with ASD in this population [ 52 ]. Given that the nature of IQ assessment and sample sizes were similar across these studies, it is not clear why the resultant findings regarding IQ were inconsistent.

Understanding of the possible interrelationships between the three variables for females with FXS is still relatively rudimentary, and it remains possible that knowledge of the ways in which FMRP, ASD and IQ interrelate in males with FXS does not entirely generalise to females. Future research may continue to assess the strengths of linear associations as has been generally undertaken between FMRP, IQ and ASD in larger groups, and also may consider potentially non-linear aspects of these relationships. The findings should be considered in light of several methodological constraints. Given the range of ASD diagnostic assessments used across studies, and the reported variability in sensitivity and specificity of these measurement tools, the prevalence data reported in this review should be considered as estimates only.

Whilst the weighting of individual studies in the generation of quality weighted meta-analytic prevalence estimates is based partly on the risk of bias of the ASD measures, this cannot completely account for the wide and complex variability in ASD measurement in the reviewed papers. Further limitations relate to the use of the most stringent level of ASD assessment in each paper in the meta-analysis a decision following Richards et al.

Greater consistency within the literature in the stringency of reported ASD diagnosis may be important in the future. Recruitment bias e. Given the relatively small population of females with FXS, it is also possible that the same participants are included in more than one study, introducing further biases. A large proportion of studies did not include appropriate contrast groups, as a large proportion only had males with FXS and the discrepancies between males and females with FXS are well-documented. Also, most contrast groups reported do not appear to be matched on IQ or age, which would also be important factors when considered appropriateness of controls.

Future studies which are matched for gender, age and IQ would be most appropriate in order to not limit the findings. The results reported are found for females across a wide variety of ages, with a few papers looking at ages across the lifespan but most having a focus on either children or adults. Research has shown differences in behaviours caused by FXS across the lifespan [ 70 , 71 ], but none of the papers reviewed explored the impact of age ranges as potentially confounding factors, either in the analysis or discussion. Strengths of this review include the systematic search strategy and use of a tool for risk-of-bias appraisal specifically developed for research into ASD in genetic syndromes, and with good levels of inter-rater reliability.

Greater research focus on females with FXS is important in order to improve understanding and awareness of the challenges faced by affected individuals and their families. The data that support the findings of this study are available from the corresponding author upon reasonable request. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A. Article Google Scholar. Fragile X-associated disorders. Chapter Google Scholar. Centers for Disease Control and Prevention. Prevalence of autism spectrum disorder among children aged 8 years. Google Scholar. Moss J, Howlin P. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population.

J Intellect Disabil Res. The assessment and presentation of autism spectrum disorder and associated characteristics in individuals with severe intellectual disability and genetic syndrome. The Oxford handbook of intellectual disability and development. The prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. Lancet Psychiatry. PubMed Article Google Scholar. Autism profiles of males with fragile X syndrome. Am J Ment Retard. J Autism Dev Disord. Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey.

Developmental trajectories of young girls with fragile X syndrome. Am J Intellect Dev Disabil. Autistic behavior in young boys with fragile X syndrome. Behavioral relationship between autism and fragile X syndrome. Cognitive, language and social cognitive skills of individuals with fragile X syndrome with and without autism. The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr. An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet. Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation. Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.

The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Decreased fragile X mental retardation protein FMRP is associated with lower IQ and earlier illness onset in patients with schizophrenia. Psychiatry Res. FMRP expression as a potential prognostic indicator in fragile X syndrome. Syst Rev. Hallgren KA. Computing inter-rater reliability for observational data: an overview and tutorial. Tutor Quant Methods Psychol. McGraw K, Wong S. Forming inferences about some intraclass correlation coefficients. Psychol Methods. Soc Sci Med. Meta-analysis of observational studies in epidemiology: a proposal for reporting.

Fixed-and random-effects models in meta-analysis. In an empirical evaluation of the funnel plot, researchers could not visually identify publication bias. J Clin Epidemiol. Bias in meta-analysis detected by a simple, graphical test. Br Med J. Duval S, Tweedie R. Trim and fill: a simple funnel-plot-based method of testing and adjusting for publication bias in meta-analysis. J Am Stat Soc. Duval S. The trim and fill method. Publication bias in meta-analysis: prevention, assessment and adjustments; Viechtbauer W.

Conducting meta-analyses in R with the metafor package. J Stat Softw. Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome. J Neurodev Disord. A duck wearing boots?! Pragmatic language strategies for repairing communication breakdowns across genetically based neurodevelopmental disabilities.

J Speech Language Hearing Res. Autism spectrum phenotype in males and females with fragile X full mutation and premutation. Relationships between early gestures and later language in children with fragile X syndrome. Genetics Home Reference. April Archived from the original on 9 October Retrieved 7 October Archived from the original on 10 May Retrieved 10 May PMC PMID Centers for Disease Control and Prevention. Retrieved Archived from the original on 12 October Archived from the original on Archived from the original on 5 May Current Genomics.

European Journal of Human Genetics. Annual Review of Pathology. Regezi, James J. Sciubba, Richard C. Oral pathology : clinical pathologic correlations 5th ed. Louis, Mo. ISBN Handbook of neurodevelopmental and genetic disorders in children. New York: Guilford Press. Journal of Abnormal Child Psychology. ISSN Developmental Neuroscience. Fragile X syndrome: diagnosis, treatment, and research. Bibcode : PLoSO Behavioural Brain Research. S2CID Autism Research. Behavioral Neuroscience. General Hospital Psychiatry. American Journal on Intellectual and Developmental Disabilities. Annals of Human Genetics. Brain and Cognition. August Fertility and Sterility.

Journal of Neurodevelopmental Disorders. May Molecular Neurobiology. Human Genomics in Global Health. World Health Organization. Genetics in Medicine. February American Journal of Human Genetics. Bibcode : Sci American Journal of Medical Genetics. Part A. Human Genetics. Social Cognitive and Affective Neuroscience. Critical Reviews in Biochemistry and Molecular Biology. The Journal of Neuroscience. Science Advances. Bibcode : SciA January Annual Review of Medicine. BMC Neurology. Developmental Disabilities Research Reviews. Translational Neuroscience. Drugs of the Future. Genome Research. Journal of Neurology and Psychiatry.

American Journal of Mental Deficiency. Archived PDF from the original on ICD - 10 : Q Pervasive developmental disorders and autism spectrum. Autism spectrum High-functioning autism Low-functioning autism Classic autism Asperger syndrome Pervasive developmental disorder not otherwise specified Childhood disintegrative disorder Savant syndrome. Alexithymia Attention deficit hyperactivity disorder Anxiety disorder obsessive—compulsive disorder Late talker Epilepsy Fragile X syndrome Hyperlexia Rett syndrome Sensory processing disorder Intellectual disability Developmental coordination disorder Multiple complex developmental disorder.

Many children Fragile X Syndrome Analysis Fragile X are bothered by certain sensations, such No Gumption By Russell Baker: Chapter Analysis bright light, loud noises, or Susan B Anthony Cry Analysis way certain clothing feels on their bodies. Neuropsychiatric diagnoses, such as autism spectrum and anxiety disorders, are common. Fragile X Syndrome Analysis and behaviour are more severely affected for those with Aesthetic Prosthetic Essay Fragile X Syndrome Analysis mutation, whose prevalence is approximately 1. Words: Fragile X Syndrome Analysis Pages: 3. Use visual signs Fragile X Syndrome Analysis, sign language, logos, words and concrete examples or materials to Fragile X Syndrome Analysis ideas, concepts, steps, etc. Also there are many ways to Strength Action Plan Assignment a Fragile X children become more socially active.