Child-Onset Fluency Disorder (COFD) is a disorder in which an individual experiences extreme difficulty communicating with others through speech‚ causing emotional and physical difficulty with verbal expression. COFD is a condition that has a varying presence in different age demographics‚ and it is complex in origin and treatment. About 5% of children are diagnosed with COFD‚ and a decreased presence of the disorder is seen in adults at 1%‚ as the majority of children who are afflicted by COFD will
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(2) Hypoplasia of thymus and parathyroid glands resulting in hypocalcemia Acronym CATCH22 is used for this syndrome (Cardiac Abnormality/abnormal facies‚ T cell deficit due to thymic hypoplasia‚ Cleft palate‚ Hypocalcemia ) (2) a variation in the phenotype and deletion can be in both maternal or paternal origin (1) Figure 1: shows the genetic map of chromosomal region 22q11.2‚ 85% individuals have a large 3-Mb deletion (40 genes) (3). Clinical features (1) Cardiac malformations (aortic
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Table 21-2 SUMMARY OF NEWBORN ASSESSMENT *MCH pages 479-473 | NORMAL | ABNORMAL (POSSIBLE CAUSES) | NURSING CONSIDERATIONS | Initial AssessmentAssess for obvious problems first. If infant is stable and has no problems that require immediate attention‚ continue with complete assessment. | Vital Signs | TemperatureAxillary: 36.5– 37.5°C (97.7 – 99.5°F).Axilla is preferred site. | Decreased (cold environment‚ hypoglycemia‚ infection‚ CNS problem). Increased (infection‚ environment to warm)
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karyotype. Karyotype is a test to identify and evaluate the size‚ shape‚ and number of chromosomes in a sample of body cells. Any abnormalities such as extra‚ missing‚ or abnormal positions of chromosome pieces can cause problems with a person growth‚ development and body functions. Karyotype can be used to determine whether the chromosomes of an adult have an abnormality that can be passed on to the child. It can also determine whether a chromosome defect is preventing a woman from becoming pregnant
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| St. Vincent and the Grenadines Community CollegeAssociate Degree ProgrammeMID-SEMESTER EXAMINATIONS 2013 | COURSE TITLE: Developmental PsychologyCOURSE CODE: PSY202SEMESTER: 2 (SAMPLE TEST)DATE: Wednesday 6st March 2013 TIME: 11:00 amDURATION: 2 hours INSTRUCTIONS: | | This paper consists of eight (8) pages and three (3) sections: Section A: Twenty (20) multiple choice questions worth a total of 20 marks. Section B: Ten (10) matching questions worth
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Translocation Trisomy 21 (Causes) In this type of chromosomal change‚ only part of an extra copy of chromosome 21 is in the cells. The extra part of the chromosome gets "stuck" to another chromosome and gets transmitted into other cells as the cells divide. This type of change causes about 4% of Down syndrome cases. There are no distinct cognitive or medical differences between people with translocation trisomy 21 and those with complete trisomy 21. ! What chromosome is affected by this disorder
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and definition of disability Down Syndrome is defined as “…a congenital condition accompanied by moderate to severe intellectual disabilities and caused by a chromosomal aberrancy” (Pomeroy and Lee 288-289). This condition occurs when someone has 47 chromosomes instead of 46. Down Syndrome is known as the most common autosomal abnormality today. 2. Demographics and characteristics of disability Although Down Syndrome is known to be caused by having an extra chromosome‚ there is no known cause
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WAGR Syndrome WAGR (Wilms’ tumor‚ Aniridia‚ Genitourinary abnormalities‚ and mental Retardation) Syndrome is a contiguous gene deletion syndrome that is caused by a deletion in chromosome 11. The acronym for the syndrome comes from the various symptoms that are caused by the deletion – wilms’ tumor‚ aniridia‚ genitourinary abnormalities‚ and mental retardation. Wilms’ tumor is a tumor that is found in the kidneys that causes nephroblastoma‚ cancer of the kidneys. Aniridia‚ the absence of the iris
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split on where the five fingers should be. Therefore creating a lobster claw-like hand. According to the site‚ SHFM is caused by abnormalities at one of the multiple loci‚ including SHFM1 (SHFM1 at 7q21-q22)‚ SHFM2 (Xq26)‚ SHFM3 (FBXW4/DACTYLIN at 10q24)‚ SHFM4 (TP63 at 3q27)‚ and SHFM5 (DLX1 and DLX 2 at 2q31). SHFM3 is caused by submicroscopic tandem chromosomal duplications of FBXW4/DACTYLIN. SHFM3 is considered ’isolated’ ectrodactyly and does not show a mutation in the tp63 gene. Autosomal
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percentage of the cells display the third thirteen chromosome while others contain the average amount of pairs‚ this is known as mosaicism. The extra chromosomal material in the cell can lead to many problems in the developmental stages of the humans life‚ these developmental issues cause severe mental retardation and physical defects or abnormalities in other body parts of that person. Patau syndrome occurs in approximately one out of every ten-thousand to sixteen thousand infants born. The disorder
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