Developmental Disabilities

Running Head : OVERVIEW OF BARDET-BIEDL SYNDROME

An Overview of the Bardet-Biedl Syndrome (Name (College /University (Professor (Course /Subject

An Overview of Bardet-Biedl Syndrome

In a case report presented by Uzun , Ar , Canan , Aktas Bas (2007 , an 11-year-old boy was admitted to a hospital in Turkey due to complaints about loss of vision , speech deficit , learning difficulty , poor balance , and ataxic gait . Results of the physical examination showed that the boy manifested the following special features : facial dysmorphism , visual problems that included nystagmus or rapid involuntary movement of the eyes from side

to side , poor coordination being overweight , an extra digit on the left foot , mild mental retardation , among other distinctive characteristics . What the authors (Uzun et al , 2007 ) had presented was a usual case of a developmental dis called Bardet-Biedl Syndrome (BBS . The World Health Organization (WHO ) developed the International Classification of Functioning , Disability , and Health (ICF , which is a news classification system that focuses on the components of health (Stewart Rosenbaum , 2003 . The ICF also emphasizes the relationship between health condition and contextual factors , as illustrated in Figure 1 using the ICF model . This document aims to explain the Bardet-Biedl Syndrome in terms of the patients ' body structure functions activities , participation , and their limitations

General

Bardet-Biedl syndrome is an autosomal recessive condition or an inheritable disease 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 BBS as seen in numerous case reports include retinal dystrophy , obesity , cognitive deficit hypogonadism , polydactyly (Hrynchak , 2000 , mental retardation , and renal 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 study that aimed to clarify and determine the major criteria for proper diagnosis of the syndrome . According to the results (Beals et al , 1999 individuals diagnosed with BBS must have the following cardinal features (1 ) Visual diss . The individual suffers from rod-cone dystrophy , also known as atypical retinitis pigmentosa , which is characterized by night blindness , loss of peripheral or tunnel vision , loss of central vision in childhood and adolescence , and severe visual impairment by adulthood (The Foundation 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 are born with only one extra finger 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 found 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...