'An Overview of the Bardet-Biedl Syndrome\r'

'In a eccentric mortal report presented by Uzun, Ar, Canan, Aktas, & antiophthalmic factor; Bas (2007), an 11-year-old boy was admitted to a hospital in wash come to the fore due to complaints about â€Å"loss of vision, speech deficit, tuition fractiousy, short(p) balance, and ataxic gait”. Results of the physical trial run showed that the boy manifested the fol showtimeing additional features: facial dysmorphism, ocular problems that complicated nystagmus or rapid, involuntary melt downment of the eye from side to side, poor coordination, macrocosm overweight, an extra fingers breadth on the left(p) foot, mild rational retardation, among different distinctive characteristics.What the authors (Uzun et al. , 2007) had presented was a usual pillowcase of a developmental unsoundness c just nowed Bardet-Biedl Syndrome ( nonice board). The World Health boldness (WHO) developed the International Classification of Functioning, Disability, and Health (ICF), which is a news classification system that focuses on the comp angiotensin-converting enzyments of health (Stewart & axerophthol; Rosenbaum, 2003). The ICF similarly emphasizes the relationship amidst health condition and contextual factors, as illustrated in work 1 using the ICF model.This document aims to explain the Bardet-Biedl Syndrome in terms of the patients’ body structure &type A; functions, activities, participation, and their limitations. worldwide Description Bardet-Biedl syndrome is an autosomal recessive condition or an inheritable disorder involving non-dominant chromo approximatelys (Barnet, Reilly, Carr, Ojo, Beales, & group Aere; Charman, 2002; Beales, 2005; Beales, Elcioglu, Woolf, Parker, & Flinter, 1999; Chan, Ho, But, & Tse, 1999; Hrynchak, 2000; Uzun et al. , 2007). It was first described by George Bardet and Alfred Biedl in 1920 (Chan et al. , 2000).This syndrome has a prevalence rate of 1/160,000. The cardinal features of electronic bullet in board as seen in numerous case reports include retinal dystrophy, obesity, cognitive deficit, hypogonadism, polydactyly (Hrynchak, 2000), mental retardation, and nephritic dysfunction (Beales et al. , 1999; Chan et al. , 2000; Uzan et al, 2007). Arguments regarding the accuracy of the cardinal features emerged and consequently prompted Beales et al. (1999) to conduct a see that aimed to clarify and determine the major criteria for proper diagnosis of the syndrome. According to the results (Beals et al., 1999), separates diagnosed with notice board must have the following cardinal features: (1) Visual disorders. The individual suffers from rod-c unitary dystrophy, alike known as atypical retinitis pigmentosa, which is characterized by â€Å"night blindness”, loss of peripheral or tunnel vision, loss of central vision in childishness and adolescence, and â€Å"severe opthalmic impairment by adulthood” (The Foundation fight Blindness [TFFB], 2000). (2) outg rowth defects. A widespread condition among individuals with BBS is postaxial polydactyly, or having extra accessory digits in the hands or feet (Beales et al., 1999). Some be innate(p) with sole(prenominal) one extra finger or toe, but in another(prenominal) cases, the condition is â€Å"present in all(a) four limbs” (Beales et al. , 1999). There were also cases that extra digits were only arrange in both hands or in both feet (Beales et al. , 1999). In the case study mentioned above, the 11-year-old boy had an extra digit on the left foot (Uzun et al. , 2007). (3) Height and weight. In the survey conducted by Beales et al. (1999) among children who developed BBS with an average age of 9 years old, the average height of males was 1.73 m, which was signifi keistertly unhorse than the average height of males in the general world which was 1. 76 m; the average height of females, on the other hand, measured 1. 62mâ€a reckon that was not signifi crappertly different fro m the average height of females in the general tribe that measured 1. 63 m (Beales et al. , 1999). When it comes to weight, Bardet-Biedl syndrome is widely linked to being obese or overweight (Beales et al. , 1999; Beales, 2005). obesity was considered by a number of researchers as one of the accepted major criteria of BBS (Barnet et al., 2002; Hrynchak, 2005). Uzun et al. (2007) even addressed obesity in his case study as â€Å"one of the roughly commons features of BBS”. (4) Education. Individuals with BBS exhibit erudition difficulties (Beales et al. , 1999) which â€Å"can range from mild cognitive disability to mental retardation” (TFFB, 2000). However, Green et al. (as cited in Hrynchak, 2000) questioned this feature and show that â€Å"when appropriate verbal and performance IQ tests were given, only a minority of patients were found to have a cognitive deficit”.(5) Renal tract abnormalities. The kidney is one of the affected body organs when a perso n is developed to have BBS (Beales et al. , 1999, Chan et al. , 2000, Hrynchak, 2000). Most patients were found to have structural abnormalities (Beales et al. , 1999, Chan et al. , 2000). Kidney failure has been one of the take casings of death among individuals with the syndrome (Chan et al. , 2000; Uzun et al. , 2007). The symptoms mentioned above atomic number 18 considered the major criteria; however, the renderings of BBS argon not limited to these items.Hypogonadism was considered by whatever researchers as one of the key features (Hrynchak, 2000); it is described as a structural deficiency characterized by Beales et al. (1999) as having small penises buried in adipose tissue. These concrete descriptions of the major criteria or symptoms for proper diagnosis of the Bardet-Biedl syndrome are one thing; behavioural patterns in patients with the syndrome are another. Beales et al. (1999) were able to include brief descriptions of BBS patients. These â€Å"difficult” behaviours include â€Å"emotional immaturity, frequent volatile outbursts, and poor reasoning” (Beales et al., 1999). They also claim boldly that â€Å"all BBS children preferred fix routines” (Beales et al. , 1999). Barnet et al. (2002) extensively study the behaviour of individuals with BBS and found, apart from the aforementioned description by Beales et al. (1999), that children with BBS felt â€Å" strike outn”, â€Å" skittish”, or even â€Å"depressed”. One of the briny arguments of the article by Barnet et al. (2002) was the existence of a â€Å"behaviour phenotype” or a behaviour gene. One divine revelation that fuelled his speculations was the emergence of closely similar behaviour patterns of individuals born with BBS.That is simply one route to explain behaviour. On the other hand, we can unwrap links between affect, behaviour, and cognition to explain why they act the way they do. Consider feelings of withdrawal, anxiety, an d depression. These are all negative feelings indirectly pointed towards the self. A person with BBS would want to withdraw from the normal population because of possible shame or fear of encountering ridicule due to other peck’s inconsiderate and usually unkind remarks. care might be felt due to a developed fear of being ridiculed.Depression, which is about in all probability the worst thing a child can feel, might have developed due to low self-esteem and self-worth. They would probably make comparisons between slew like themselves who have impairments and people who are stated by society to be normal. One of the most notable behaviour patterns observed was traces of obsessive-compulsive behaviour; as with individuals who are diagnosed with autism, which is another developmental disorder linked to cognitive deficit, those with BBS are most comfortable with a â€Å"fixed routine” (Barnet, 2002).Activities & Limitations in Activities It is an observable fact t hat the features of Bardet-Biedl syndrome entail a lot of limitations in learning and applying knowledge. First, once the visual problems emerge, they interfere with visual learning, which is an important facet of study since most instructional media are visual. Hrynchak (2000), however, claimed â€Å"early appellation of the visual disorder and appropriate educational give-and-take can be of great benefit in people with this condition”. In the study of Beales et al.(1999), one-half of the patients received education in a â€Å"special school”; some even further prosecute their education and earned university degrees. Visual problems also trammel the day-to-day activities of older patients. Hrynchak (2000) presented the case of a 20-year-old blanched man with the condition who worked as a janitor. He complained about â€Å"decreasing visual acuity”, specifically, â€Å" miss debris while sweeping”. â€Å"He also had reduced ability to see fine prin t, bar seeing the credits on television, mobility problems (especially judging depth), and obstacle adapting to changing illumination conditions” (Hrynchak, 2000).Hrynchak (2000) also mentioned that majority of individuals scram â€Å"legally blind” before the age of 30. Obesity also entails a lot of health risks including nervus disease (Beales et al. , 1999). This affects the amount of emotional and physical judge the individual is capable of doing. Ataxia, which is characterized by poor coordination, was also found in patients with BBS. This affects how people with BBS move properly. It is probable that obesity is prevalent in some cases because of ataxia, which hinders activities that need proper coordination such as sports and other physical exercises.There is also the matter of speech deficit. Beales et al. (1999) pointed out that in that respect is a problem in language use and vocabulary is limited due to learning difficulties. Participation & Limitat ions in Participation The case presented by Hrynchak (2000) shows the ability of individuals with BBS to function in effect in society as a working(a) individual. However, Beales et al. (1999) described that â€Å"adult patients are often disinhibited and bulge out to recognise social cues”. This means that they often find it difficult to relate and mingle with other people.Perhaps this is a consequence of feelings of depression and anxiety in childhood brought about by possible ridicule and rejection among peers. fatherhood is a major societal role that the males give not get to play. Due to hypogonadism, males are sterilized and are unable to procreate (Beales et al. , 1999). According to Hrynchak (2000), â€Å"there have been no reports of a man with Bardet-Biedl syndrome having fathered children. ” word & Outcome It is an unfortunate matter that this transmissible disorder has no known holistic treatment according to The Foundation Fighting Blindness (200 0).To perhaps decrease the complications of the condition, one must address all(prenominal) symptom separately. For visual problems, an eye specialist should be consulted to see how the vision could be improved or what adjustments should be made by the patient or by the people around him. Hrynchak (2000) suggested the use of â€Å" firmament expansion devices” or a guide dog. unfortunate vision might hamper an individual’s ability to learn, hence, the cognitive disabilities. Learning disabilities, on the other hand, can be overcome with early interposition and had not been a hindrance to those who completed university degress.For renal abnormalities or kidney problems, one can approach a nephrologist or â€Å"a physician that specializes in kidney diseases” (TFFB, 2000). Kidney diseases are usually not detected until the patient undergoes radiological testing or x-ray after being diagnosed with BBS (Hrynchak, 2000). Take note that the leading cause of death a mong BBS patients is renal or kidney failure. indication Barnet, S. , Reilly, S. , Carr, L. , Ojo, I. , Beales, P. L. , & Charman, T. (2002). Behavioural phenotype of Bardet-Biedl syndrome. Journal of Medical genetics 39, e76-e76. Beales P. L. (2005).Lifting the lid on Pandora’s box: The Bardet-Biedl syndrome. accredited Opinion in Genetics & Development, 15(3), 315-323. Beales, P. L. , Elcioglu, N. , Woolf, A. S. , Parker, D. , & Flinter, F. A. (1999). New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. Journal of Medical Genetics, 36, 437-446. Chan, W. K. Y. , Ho, S. , But, B. , & Tse, W. W. Y. (2000). Renal disease in Bardet-Biedl syndrome. Hong Kong Journal of Paediatrics 5, 34-39. Hrynchak, P. K. (2000). Bardeit-Biedl syndrome. Optometry and Vision Science, 77(5), 236-243. Stewart, D. , & Rosenbaum, P. (2003).The international classification of functioning, disability, and health (ICF): A orbicular model t o guide clinical thinking and get along in childhood disability. Keeping Current, 3(3), 1-8. The Foundation Fighting Blindness. (2000, February). Bardet-Biedl syndrome. Retrieved March 12, 2008, from http://www. blindness. org/pdfs/resources/bardetbiedl. pdf Uzun, H. , Ar, K. , Canan, F. , Aktas, A. , & Bak, M. (2007). A case of Bardet-Biedl syndrome. The profits Journal of Pediatrics and Neonatology 7(1). 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