An Overview of the Bardet-Biedl Syndrome

In a case report presented by Uzun, Ar, Canan, Aktas, & Bas (2007), an 11-year-old son was admitted to a hospital in Turkey due to complaints almost liberation of mass, dialect deficit, learning impediment, poor balance, and ataxic gait. Results of the physical interrogative showed that the boy manifested the following fussy features facial dysmorphism, opthalmic problems that included nystagmus or rapid, involuntary regardment of the eyes from side to side, poor coordination, universe overweight, an spear carrier digit on the odd foot, mild amiable retardation, among other typical characteristics.What the authors (Uzun et al. , 2007) had presented was a usual case of a developmental unsoundness called Bardet-Biedl Syndrome ( nonice board). The cosmos Health Organization (WHO) developed the International Classification of Functioning, Disability, and Health (ICF), which is a news classification system that foc ingestions on the comp nonp arilnts of health (Stewart & Ro senbaum, 2003). The ICF also emphasizes the human relationship amid health physique and contextual factors, as illustrated in portend 1 using the ICF model.This document aims to explain the Bardet-Biedl Syndrome in terms of the patients bole structure & functions, activities, participation, and their limitations. General Description Bardet-Biedl syndrome is an autosomal recessive condition or an inheritable ailment involving non-dominant chromosomes (Barnet, Reilly, Carr, Ojo, Beales, & 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 bulletin board as seen in numerous case reports include retinal dystrophy, obesity, cognitive deficit, hypogonadism, polydactyly (Hrynchak, 2000), mental retardation, and renal dysfunctio n (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 study that aimed to clarify and determine the major criteria for straitlaced diagnosis of the syndrome. consort to the results (Beals et al., 1999), individual(a)s diagnosed with bulletin board system must befool the following cardinal features (1) Visual disorders. The individual suffers from rod-cone dystrophy, also cognize as atypical retinitis pigmentosa, which is characterized by night sightlessness, loss of peripheral or tunnel vision, loss of central vision in childhood and adolescence, and severe optic impairment by matureness (The base Fighting Blindness TFFB, 2000). (2) Limb 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 atomic number 18 born with only one extr a hitch or toe, but in other cases, the condition is present in all four limbs (Beales et al. , 1999). There were also cases that extra digits were only free-base in both hands or in both feet (Beales et al. , 1999). In the case study mentioned in a higher place, 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 aver develop age of 9 years old, the average height of males was 1.73 m, which was signifi earth-closettly lower than the average height of males in the general population which was 1. 76 m the average height of females, on the other hand, measured 1. 62ma number that was not signifi bungholetly different from the average height of females in the general population that measured 1. 63 m (Beales et al. , 1999). When it comes to weight, Bardet-Biedl syndrome is widely connect 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) eve addressed obesity in his case study as one of the most common features of BBS. (4) Education. Individuals with BBS exhibit learning difficulties (Beales et al. , 1999) which can range from mild cognitive disability to mental retardation (TFFB, 2000). However, car park et al. (as cited in Hrynchak, 2000) questioned this feature and undercoat that 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 someone 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 leading causes of death among individual s with the syndrome (Chan et al. , 2000 Uzun et al. , 2007). The symptoms mentioned above are considered the major criteria however, the descriptions of BBS are not limited to these items.Hypogonadism was considered by some 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 difficult behaviours include emotional immaturity, frequent quicksilver(a) outbursts, and poor reasoning (Beales et al., 1999). They also claim boldly that all BBS children preferred fix routines (Beales et al. , 1999). Barnet et al. (2002) extensively studied the behaviour of individuals with BBS and found, apart(predicate) from the aforementioned description by Beales et al. (1999), that children with BBS felt withdrawn, anxious(p), or even depressed. unity of the main arguments of the article by Barnet et al. (2002) was the existence of a behaviour phenotype or a behaviour gene. One revelation that fuelled his speculations was the emergence of closely similar behaviour patterns of individuals born with BBS.That is but one charge to explain behaviour. On the other hand, we can convey links between affect, behaviour, and cognition to explain why they act the way they do. Consider feelings of withdrawal, anxiety, and 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 pathos or fear of encountering derision due to other peoples inconsiderate and usually unkind remarks. Anxiety might be felt due to a developed fear of being ridiculed.Depression, which is most in a ll likelihood the worst thing a child can feel, might have developed due to low self-esteem and self-worth. They would probably make comparisons between people like themselves who have impairments and people who are declared by society to be normal. One of the most notable behaviour patterns notice 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 fixed routine (Barnet, 2002).Activities & Limitations in Activities It is an observable fact that 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 education since most instructional media are visual. Hrynchak (2000), however, claimed primaeval identification of the visual disorder and appropriate educational intervention can be of great benefit in people with this condition. In the study of Beales et al.(1999), half of the patients received education in a special school some even further pursued their education and gain university degrees. Visual problems also hamper the day-to-day activities of older patients. Hrynchak (2000) presented the case of a 20-year-old white man with the condition who worked as a janitor. He complained about decreasing visual acuity, specifically, missing debris while sweeping. He also had reduced ability to see fine print, difficulty seeing the credits on television, mobility problems (especially judging depth), and difficulty adapting to changing ignitor conditions (Hrynchak, 2000).Hrynchak (2000) also mentioned that majority of individuals become legally blind before the age of 30. Obesity also entails a lot of health risks including heart disease (Beales et al. , 1999). This affects the amount of emotional and physical stress 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 there is a problem in language use and vocabulary is limited due to learning difficulties. enfolding & Limitations in Participation The case presented by Hrynchak (2000) shows the ability of individuals with BBS to function effectively in society as a working individual. However, Beales et al. (1999) described that adult patients are often disinhibited and appear to recognise social cues. This means that they often dominate 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 will not get to play. Due to hypogonadism, males are infertile and are unable to manifold (Beales et al. , 1999). According to Hrynchak (2000), there have been no reports of a man with Bardet-Biedl syndrome having fathered children. discussion & Outcome It is an unfortunate matter that this genetic disorder has no known holistic treatment according to The Foundation Fighting Blindness (2000).To mayhap decrease the complications of the condition, one must address each symptom separately. For visual problems, an eye specialist should be consulted to see how the vision could be improve or what adjustments should be made by the patient or by the people around him. Hrynchak (2000) suggested the use of field expansion devices or a fly the coop dog. Poor vision might hamper an individuals ability to learn, hence, the cognitive disabilities. Learning disabilities, on the other hand, can be overcome with early intervention and had not been a hindrance to those who finish university degress.For renal abnormalities or kidney problems, one can approach a nephrologist or a physician that specializes in kidney diseases (TFFB, 2000). Kidney diseases are usually not detect until the patient undergoes radiological testing or x-ray after being diagnosed with BBS (Hrynchak, 2000). Take note that the leading cause of death among BBS patients is renal or kidney failure. Reference Barnet, S. , Reilly, S. , Carr, L. , Ojo, I. , Beales, P. L. , & Charman, T. (2002). Behavioural phenotype of Bardet-Biedl syndrome. ledger of Medical genetic science 39, e76-e76. Beales P. L. (2005).Lifting the lid on Pandoras box The Bardet-Biedl syndrome. Current 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 imagination Science, 77(5), 236-243. Stewart, D. , & Rosenbaum, P. (2003).The international classification of functioning, disability, and health (ICF) A global model to guide clinical thinking and practice 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 Internet Journal of pediatrics and Neonatology 7(1). 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