The diagnosis of BBS was accepted if three of the aforementioned symptoms were present, or two of the first three symptoms mentioned, or if two symptoms were present and a gene mutation in one of the BBS genes was detected (Table 1). [cjasn.asnjournals.org]

Lien vers Pubmed [PMID] – 22004009 Ophthalmic Genet. 2012 Mar;33(1):18-22 INTRODUCTION: Early onset retinal degeneration associated with obesity can present a diagnostic challenge in paediatric ophthalmology practice. [research.pasteur.fr]

In 31% of the children and 42% of the adults with BBS chronic kidney disease is present. [dovepress.com]

Early in life, the child presented a developmental delay: crawling at 18 months, sitting at 24 months, speech acquisition after 3 1/2 years. [hindawi.com]

Broadband noise at 70 dB SPL was presented to the opposite ear to mask any stimulation via acoustic cross talk. Clicks were presented at a rate of 21/s in 4-min runs. [bmcmedgenet.biomedcentral.com]

• Weight Gain

  Abnormal weight gain begins in early childhood and continues throughout adulthood. As a result, obesity-related diabetes, high blood pressure, and high cholesterol may also develop. [myriad.com]

  Weight is usually normal at birth but weight gain is quickly evident through the first year of life in as many as 90% of people with BBS. [rarediseases.org]

  Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. [medlineplus.gov]

• Poor Coordination

  Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination [medlineplus.gov]

  coordination/imbalance Mild spasticity (especially lower limbs) Diabetes mellitus Dental crowding/hypodontia/small roots/high arched palate Left ventricular hypertrophy/congenital heart disease Hepatic fibrosis Diagnosis of BBS requires the presence [academic.oup.com]

  Neurological impairments may manifest in poor coordination, gross and fine motor skills, and social milestones (eg: ability to play complicated games with other children). [rarediseases.org]

  coordination can be found in 85% of the patients with BBS and may contribute to gross motor and fine motor delays.6,12 The baseline assessment includes careful neurological examination of the coordination and gait. [dovepress.com]

  Other clinical features include speech disorder, brachydactyly, developmental delay, polyuria and polydipsia, ataxia, poor coordination/clumsiness, diabetes mellitus, left ventricular hypertrophy, hepatic fibrosis, and renal hypoplasia/dysplasia. [aboonline.org.br]

Debunking an Alleged Treatment on the Internet How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment. Eye On the Cure Research News All Research [fightingblindness.org]

Weight changes were noted after 52 weeks of treatment. [dovepress.com]

With proper treatment and monitoring, a majority of individuals may have a normal or near-normal life expectancy. [myriad.com]

As always, talk to your doctor about how diet and exercise can fit into your personal treatment plan. It can also be good to: [leadforrareobesity.com]

In conclusion, this study highlights the high prevalence of renal disease in BBS and reaffirms the need for early diagnosis and treatment. [cjasn.asnjournals.org]

What Is the Prognosis for an Individual with Bardet-Biedl Syndrome, BBS1-Related? Predicting symptoms and the course of the disease for individuals with BBS can be difficult due to the variable nature of the condition. [myriad.com]

This finding, which is unusual in BBS, negatively affected prognosis and caused the patient’s death at the age of 18 years. [bmcmedgenet.biomedcentral.com]

On the Cure Research News Oct 6, 2016 Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis [fightingblindness.org]

Diagnosis of the condition is important for visual prognosis and low vision management. Ophthalmologic and electrophysiological examinations are essential for confirmation and correct diagnosis of BBS(5). [aboonline.org.br]

Etiologies of hepatitis were systematically explored. [hindawi.com]

During the last 12 months, the first three of at least six BBS genes have been identified, providing us for the first time with the ability to formulate hypotheses regarding the molecular etiology of the disorder. [academic.oup.com]

Bardet-Biedl syndrome epidemiology This is a rare condition and is seen in 1 in 140,000 to 1 in 160,000 newborns in most of North America and Europe. [news-medical.net]

GFR was estimated according to the Modification of Diet In Renal Disease study group and the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) [17], using standardized plasma creatinine measurement. [bmcmedgenet.biomedcentral.com]

The presented results illustrate the importance of further studies to better understand BBS at the molecular level as well as its genetic epidemiology. Obviously, this study has some limitations. [cjasn.asnjournals.org]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352-60. Karmous-Benailly H, Martinovic J, Gubler MC, et al. [rarediseases.org]

Clinical, genetic and epidemiological studies. J. Neurol. Sci., 9, 479 –513. 4 Farag, T.I. and Teebi, A.S. ( 1989 ) High incidence of Bardet–Biedl syndrome among the Bedouin. Clin. [academic.oup.com]

Further Reading All Bardet-Biedl Syndrome Content Bardet-Biedl Syndrome Symptoms Bardet-Biedl Syndrome Pathophysiology Last Updated: Jun 5, 2019 Written by Dr. Ananya Mandal Dr. [news-medical.net]

Extensive future genotyping studies may reveal genotype-phenotype correlations, allowing early diagnosis and better understanding of the pathophysiology of associated cardiovascular abnormalities. [cjasn.asnjournals.org]

The pathophysiology is not completely understood but recent studies confirmed the crucial role of proteins encoded by the BBS genes as components of the centrosome and/or basal body, and their implication either in the constitution of the primary cilia [hindawi.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al. [rarediseases.org]

Good diet management can prevent the weight-related problems that manifest in later life. Consulting with a primary care physician and a dietician can help in planning for adequate nutrition and prevention of excess weight gain. [rarediseases.org]

At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]

[…] depletion (low-sodium diet, drink adequate amounts of water).74 Metabolic Syndrome Metabolic syndrome has an incidence of 54.3% in patients with BBS.24 Early detection of metabolic syndrome followed by appropriate treatment is necessary in order to prevent [dovepress.com]

Cardiovascular risk factors need to be considered and, if present, treated early to prevent subsequent complications. [cjasn.asnjournals.org]