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Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome
B P Hauffa1, G Schlippe, M Roos
1Department of Pediatric Hematology/Oncology and Endocrinology, University of Essen, Germany. berthold.hauffa@uni-essen.de
Insights
New growth charts for Prader-Willi syndrome (PWS) in German children are essential. Molecularly confirmed PWS patients show distinct height and weight patterns compared to existing standards, necessitating updated reference curves for accurate diagnosis.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Growth and Development
Background:
- Prader-Willi syndrome (PWS) diagnosis has evolved with molecular techniques.
- Clinical diagnosis-based growth standards may introduce bias.
- Specific growth patterns in PWS include early obesity and short stature.
Purpose of the Study:
- To compare growth standards derived from molecularly confirmed German PWS patients with existing standards.
- To investigate potential biases in current PWS growth references.
- To establish new, accurate growth charts for German PWS population.
Main Methods:
- Compared growth data from 100 German patients with molecularly confirmed PWS to American and multinational cohorts.
- Utilized methylation analysis and fluorescence in situ hybridization for diagnosis.
- Analyzed height, weight, BMI, and sitting height/height ratio.
Main Results:
- German PWS patients' height centiles fall within the taller range of American standards, particularly at lower centiles.
- Weight standards show German girls over 14 are heavier than American counterparts.
- Body mass index standards are significantly increased in German PWS patients compared to normal references and increase with age.
Conclusions:
- Observed differences necessitate the use of newly constructed centile curves for German PWS patients.
- Updated growth standards are crucial to avoid diagnostic delays for growth-compromising conditions.
- Population background and PWS genotype/sex did not significantly influence growth parameters.
Unlabelled:
Height and weight in children with Prader-Willi syndrome, diagnosed by standard clinical criteria, follow a specific developmental pattern resulting in early childhood obesity, absent pubertal growth spurt and adolescent short stature. New molecular techniques (methylation analysis, fluorescence in situ hybridization) now allow the unequivocal diagnosis of Prader-Willi syndrome (PWS). We investigated the possibility of a bias in syndrome-specific growth standards based on clinically diagnosed patients by comparing these standards with new standards derived from 100 German patients with molecularly confirmed PWS, none of whom had received a growth-promoting therapy. Height centile curves of the German patients fall in the tall range of standards derived from American patients. This is mainly due to an elevation of the lower centile ranges in both sexes. When the height standards derived from German patients are compared to those of a large multinational cohort of patients, 78% of whom were not confirmed by genetic testing, only minor differences in the height centiles become apparent. The population background therefore does not appear to play a major role for the observed differences. In a marked proportion of patients a decreased sitting height/height ratio is found. This was usually associated with scoliosis. Weight standards from our study group show that after 14 y of age German girls with PWS are heavier than their American counterparts. Standards for the body mass index of German patients of both sexes are increased over normal reference standards (p < 0.0001) and do increase with age (boys: p = 0.0038; girls: p = 0.0004). PWS genotypes or sex had no apparent influence on SDS for height, weight and body mass index.
Conclusions:
Because of the observed differences to other growth standards, use of the newly constructed centile curves is advocated in German patients with molecularly confirmed PWS to avoid delay in the diagnosis of additional growth-compromising conditions.