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Introduction The present study reports cross-cultural comparisons of body mass index (BMI) and growth in Prader-Willi syndrome, a neurodevelopmental disorder associated with obesity, growth restriction and mild learning disability. Our objectives were to: (1) compare rates of obesity in adults with Prader-Willi syndrome (PWS) in France, with data available from Belgium, the UK and the USA; (2) compare growth of French children with PWS with their counterparts in Germany and the USA; and (3) evaluate the contribution of genetic, medical and social parameters to obesity outcome in French children and adults with PWS. Method (1) Cross-sectional comparison of BMI of 40 French adults, 38 Belgian adults, 46 British adults and 292 North American adults; (2) Construction of growth curves for French children aged 2-20 years from longitudinal data for 150 individuals with PWS, and comparison with published growth curves from Germany and the USA; and (3) Longitudinal regression analysis of 141 French children and adults to determine the factors contributing to obesity outcome. Results A total of 82.5% French adults with PWS have BMI > 30 compared with 65.8% in Belgium (n.s.), 58.2% in the USA (P < 0.005), and 54.3% in the UK (P < 0.01). Higher rates of obesity in females vs. males were found in the USA sample (P < 0.001) but not in the other samples. In contrast to adults, growth curves for French children with PWS show similar rates of growth compared with children with PWS in Germany and the USA. The principal determining factors of BMI status in the French PWS population are age (P < 0.0001), cohort (born within the last 15 years vs. born over 15 years ago, P < 0.0002) and growth hormone replacement therapy (P < 0.0002). Significant subsidiary effects include domestic situation (P < 0.0001), genetic diagnosis (P < 0.0001) and age of diagnosis (P < 0.0001). Conclusions French adults with PWS have significantly higher rates of obesity than adults in the UK and the USA, but growth in French children with PWS is similar to the USA and Germany. Clinical management has a greater impact on obesity outcome in PWS than cultural factors.
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PMID:Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome. 1829 78

The presence of hydrometrocolpos and postaxial polydactyly in a neonate can be caused by two genetic conditions; namely, McKusick-Kaufman syndrome and Bardet-Biedl syndrome. There are no distinct clinical features that allow discrimination between the two syndromes, as the cardinal features of rod-cone dystrophy, obesity, learning disability and renal dysfunction in Bardet-Biedl syndrome are age dependent. McKusick-Kaufman syndrome is characterized by vaginal atresia with hydrometrocolpos, postaxial polydactyly and congenital heart defect. Here we report an unusual presentation of Bardet-Biedl syndrome: a neonate born in a consanguineous family having an older sibling diagnosed with Bardet-Biedl syndrome presenting with postaxial polydactyly and vaginal atresia; the latter causing hydrometrocolpos, hydronephrosis and renal failure. Relief of urinary obstruction by exploratory laparotomy and aspiration of fluid, and vaginal reconstruction gradually reversed the hydronephrosis and renal failure. The patient developed end-stage renal failure towards the end of her first decade, possibly due to underlying renal pathology associated with Bardet-Biedl syndrome.
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PMID:Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome. 1864 38

A 14 year old Bangladeshi boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and undescended testes. Retinitis pigmentosa was found on fundoscopy. With typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Biedl syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males and renal dysfunction. Relatives with a single affected gene may have obesity, hypertension, diabetes and renal disease. There is increased risk of renal cell carcinoma. There is no definite treatment. Early diagnosis and symptomatic, supportive and rehabilitative measures can reduce the disability. These include dietary modification, oral hypoglycaemic drugs, testosterone supplement etc. Relatives of the patient should be screened for renal abnormality.
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PMID:Laurence Moon Bardet Biedl Syndrome. 1937 20

New evidence suggests that children with chronic conditions may be predisposed to overweight and obesity. This study provides prevalence estimate of obesity for children and adolescents with select chronic conditions. We analyzed reported height and weight and the corresponding BMI from 46,707 subjects aged 10-17 years collected by the National Survey of Children's Health (NSCH-2003). Our main outcome measure was the prevalence of obesity (defined as >/=95th percentile of the sex-specific BMI for age growth charts), adjusted for underlying demographic and socioeconomic factors. We found that the prevalence of obesity among children 10-17 years of age without a chronic condition was 12.2% (95% confidence interval (CI) 11.5-13.0); the prevalence of obesity for children with asthma was 19.7% (19.5-19.9); with a hearing/vision condition was 18.4% (18.2-18.5); with learning disability was 19.3% (19.2-19.4); with autism was 23.4% (23.2-23.6); and with attention-deficit/hyperactivity disorder was 18.9% (18.7-19.0). Our findings suggest that children 10-17 years of age with select chronic conditions were at increased risk for obesity compared to their counterparts without a chronic condition.
Obesity (Silver Spring) 2010 Jan
PMID:Prevalence of obesity among children with chronic conditions. 1952 50

This paper aims to explore the management of a rare chromosome disorder, Prader-Willi syndrome (PWS), within families. It is particularly concerned with developing an understanding of the management of diet and other everyday practices affecting the body. People with PWS tend to experience poor muscle tone combined with food obsession. The level of control over diet needed to prevent obesity and related health complications is often lacking as individuals also experience various forms of learning disability, autistic spectrum disorders and behavioural problems. The findings are based on data from twenty qualitative case studies of English families with a young person with PWS. Analysis of management strategies highlights the centrality of embodied agency in shaping everyday practices and interactions. The significance and influence of biology within this process is particularly evident, as people with the genetic condition PWS experience embodiment and emotion in distinct ways and differently from non-PWS family members in the research sample. Focusing on the multidimensional nature of processes surrounding body management, the paper highlights three key management practices and explores how these practices are influenced by people with PWS and interpreted by family members. Three key practices are identified as: restricting access to food, keeping occupied, and use of routine. The study represents the first UK empirical sociological study of PWS and primarily adds an insight of family management of PWS to a medically dominated literature around the disorder. The findings can sensitise health and social care professionals to some potential issues for families managing PWS, and guide and develop appropriate interventions to support young people with PWS and their carers.
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PMID:Managing Prader-Willi syndrome in families: an embodied exploration. 2121 15

Limb-girdle muscular dystrophy (LGMD) 2H is a slowly progressive condition characterized by proximal weakness, atrophy, and mildly to moderately raised levels of creatine kinase. Facial weakness, scapular winging, hypertrophied calves, and Achilles tendon contractions are not uncommon and the age of onset ranges between the first and fourth decade. LGMD2H was originally described in the Hutterite population that resides in central Canada and the Dakotas of the USA. LGMD2H was mapped to a specific mutation in the TRIM32 gene and it has subsequently been shown that the same mutation also results in the "sarcotubular myopathy" syndrome, which was described histopathologically. TRIM32 appears to be an E3 ubiquitin ligase, containing the tripartite motif common to this family of proteins (RING finger, B-box, coiled-coil). A few substrates have been identified, including actin and dysbindin. Recent studies have identified additional mutations in the C-terminal region of TRIM32 that result in a dystrophic myopathy. Although TRIM32 appears to be expressed ubiquitously, it is still not clear why certain mutations of TRIM32 would result in a phenotype relatively restricted to skeletal muscle. A mutation in the B-box region of TRIM32 has also been shown to result in a more pleiotropic disorder, Bardet-Biedl Syndrome (BBS11). This disorder is associated with obesity, retinopathy, diabetes, polydactyly, renal abnormalities, learning disability, and hypogenitalism. It is likely that C-terminal mutations in TRIM32 affect the ability of muscle proteins to be degraded by the ubiquitin-proteasome pathway.
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PMID:Limb-girdle muscular dystrophy 2H and the role of TRIM32. 2149 29

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.
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PMID:A case of McKusick-Kaufman syndrome. 2182 14

Obesity is a major threat to public health worldwide, and there is now mounting evidence favoring a role for the central nervous system (CNS) in weight control. A causal relationship has been recognized in both monogenic (e.g., BDNF, TRKB, and SIM1 deficiencies) and syndromic forms of obesity [e.g., Prader-Willi syndrome (PWS)]. Syndromic obesity arising from chromosomal abnormalities, that typically also affect learning and development, are often associated with congenital malformations and behavioral characteristics. We report on nine unrelated patients with a diagnosis of learning disability and/or developmental delay (DD) in addition to obesity that were found to have copy number variants (CNVs) by single nucleotide polymorphism array-based analysis. Each patient also had a distinct and complex phenotype, and most had hypotonia and other neuroendocrine issues, such as hyperphagia and hypogonadism. Molecular and clinical characterization of these patients enabled us to determine with confidence that the CNVs we observed were pathogenic or likely to be pathogenic. Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions.
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PMID:Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. 2340 28

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder with multiple morphological abnormalities. Clinical diagnosis is based on the presence of central obesity, polydactyly, rod-cone dystrophy, varying degrees of learning disability, hypogonadism (in men) and renal abnormalities. Cardiac involvement is a rare condition. We present a 28-year-old male with complaints of progressive dyspnea and palpitation diagnosed as BBS and subaortic discrete membrane. Careful echocardiographic evaluation of patients with BBS, such as in this case report, may allow us to discover novel cardiac abnormalities in this patient population.
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PMID:Bardet-Biedl syndrome and subaortic membrane: co-occurrence of two rare conditions. 2351 40

Interstitial chromosome 15q11-q13 duplications are associated with developmental delay, behavioral problems and additional manifestations, including epilepsy. In most affected individuals the duplicated chromosome is maternally derived, whereas paternal inheritance is more often associated with a normal phenotype. Seizures have not been described in patients with paternal dup 15q11-q13. We describe a family with five individuals in three generations with a paternally-inherited 15q11-q13 duplication, four of whom exhibited abnormal phenotypic characteristics, including seizures. The 18-year-old female proband presented with moderate intellectual disability, obesity, and epilepsy. Her brother manifested learning disability and behavioral problems. They both inherited the 15q11-q13 dup from their father who had a normal phenotype. Their paternal uncle and grandfather also had the duplication and were reported to have had seizures. Array-CGH and MLPA analyses showed that the duplication included the TUBGCP5, CYFIP1, MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, and OCA2 genes. This report provides evidence for intrafamilial phenotypic variability of paternal dup 15q11-q13, ranging from normal to intellectual disability and seizures, and potentially expanding the phenotype of paternal 15q11-q13 interstitial duplications.
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PMID:Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication. 2363 46


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