Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia, associated with death in most cases in the first years of life. To evaluate a potential genotype/phenotype correlation and whether CS and CISS1 represent two allelic diseases or manifestations at different ages of the same disorder, we carried out a detailed clinical analysis of 19 patients carrying mutations in CRLF1. We studied the functional significance of the mutations found in CRLF1, providing evidence that phenotypic severity of the two disorders mainly depends on altered kinetics of secretion of the mutated CRLF1 protein. On the basis of these findings, we believe that the two syndromes, CS and CISS1, represent manifestations of the same disorder, with different degrees of severity. We suggest renaming the two genetic entities CS and CISS1 with the broader term of Sohar-Crisponi syndrome.

Overweight and obesity in Norwegian children: prevalence and socio-demographic risk factors.

AIM: The aim of this study was to estimate the prevalence of childhood overweight and obesity and to identify socio-demographic risk factors in Norwegian children. METHODS: The body mass index of 6386 children aged 2-19 years was compared with the International Obesity Task Force (IOTF) cut-off values to estimate the prevalence of overweight including obesity (OWOB) and obesity (OB). The effect of socio-demographic factors on this prevalence was analysed using multiple ordinal logistic regression analysis in a subsample of 3793 children. RESULTS: The overall prevalence of OWOB was 13.8% (13.2% in boys and 14.5% in girls, p = 0.146), but the prevalence was higher in primary school children aged 6-11 years (17%, p < 0.001). The risk of being OWOB or OB increased in children with fever siblings (p = 0.003) and with lower parental educational level (p = 0.001). There was no association with parental employment status, single-parent families or origin. CONCLUSION: The prevalence of OWOB and OB in Norwegian primary school children is of concern. Socio-demographic factors have pronounced effects on the current prevalence of overweight and obesity in a cohort of Norwegian children. This knowledge could help to work out strategies to reduce the burden of overweight and obesity in children.

[Growth references for Norwegian children]. / Vekstkurver for norske barn.

BACKGROUND: The growth charts currently used in Norway, are based on measurements from the 1970s and 80s. New data are available from the Bergen Growth Study collected in 2003 - 6. In 2006, WHO published international charts for 0-5 year-old children. MATERIAL AND METHODS: New growth charts based on data from the Bergen Growth Study and the Medical Birth Registry of Norway are presented for children aged 0-19 years. These were compared with existing references and with the WHO curves. RESULTS: Norwegian children aged 0-4 years have length, height and weight measurements that are only marginally different from those in the Norwegian growth charts in current use. In older children there has been an increase in the 50-percentile for height up to 3.4 cm in boys and 2.5 cm in girls. For children older than four years, weight for height has increased, especially for the upper percentiles. The percentile lines in the new Norwegian reference are generally positioned above the WHO standard for weight at birth, and for length/height, weight and head circumference in the age group 6 months to 5 years. INTERPRETATION: The secular trends in growth mirror the need for new charts. The fact that Norwegian children differ from the WHO standards may reflect population differences relating to environment or growth potential between the populations.

[Paediatric neurology and habilitation in Norway]. / Barnenevrologi og habilitering i Norge.

BACKGROUND: Based on results from a national survey we discuss the status and prospects of Norwegian child neurology and habilitation. MATERIAL AND METHODS: A questionnaire on neurology and habilitation was sent to all 22 Norwegian departments of paediatrics. RESULTS: All departments responded. The organisation of services varied considerably. Only one department registered children admitted for neurological disorders specifically. Habilitation was mainly based on out-patient services. The number of out-patient neurology consultations in relation to regional population varied with a factor of 5.3 from the department with lowest to the one with highest number of cases. Corresponding factors were 5.9 for number of habilitation consultations per year, 3.6 for paediatricians in child neurology and habilitation, and 5.6 for allied health professionals working in habilitation units. In Norway there were 61 physicians working in child neurology and habilitation. Several departments were active in work on methodology. Research was mainly carried out in university departments. INTERPRETATION: Child neurology and habilitation services are available in all Norwegian counties. There is need for more systematic registration of clinical activities, for research, including the effect of treatment and interventions, more work on methodology, more posts for graduate medical education in the field, better organisation of services for in-patients, and closer cooperation between paediatric, habilitation and community care services.