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Height, weight, and body mass index in patients with familial dysautonomia
Maria L Cotrina1, Barr Morgenstein1, Miguel Perez1
1Department of Neurology, Dysautonomia Center, New York University Grossman School of Medicine, New York, New York, United States of America.
Insights
Children with familial dysautonomia (FD) exhibit slower growth and lower BMI compared to the general population. Specific growth charts are crucial for monitoring FD patients, as general charts are less useful. This condition does not impact survival.
Area of Science:
- Genetics and human physiology
- Pediatric endocrinology
- Rare disease research
Background:
- Children with familial dysautonomia (FD) display impaired growth compared to the general population.
- The cause of abnormal growth in FD is unclear, potentially linked to comorbidities or direct effects of ELP-1 mutations.
- Growth monitoring is essential for nutritional status assessment in FD patients.
Purpose of the Study:
- To establish sex-specific growth curves for children with familial dysautonomia (FD).
- To compare FD growth patterns with the general population.
- To assess the impact of low body mass index (BMI) on survival in FD patients.
Main Methods:
- Utilized data from the New York University (NYU) FD Registry, including 680 individuals.
- Generated sex-specific growth charts for weight, height, and BMI across different age ranges (birth-36 months, 2-20 years, 2-40 years).
- Employed Kaplan-Meier curves to analyze the relationship between low BMI and survival rates.
Main Results:
- FD patients exhibit significantly slower growth, reduced height, and lower weight compared to the general population, with effects more pronounced in girls.
- Low weight and BMI are evident from birth, impacting overall growth trajectory.
- Treatments like growth hormone or spinal fusion improved growth within the FD spectrum but did not normalize it to general population levels.
- Low BMI did not correlate with decreased survival in FD patients.
Conclusions:
- Pediatric patients with FD show lower height, weight, and BMI than their peers.
- Specific growth charts for FD are vital for accurate monitoring of growth and nutritional status in this population.
- Abnormal growth patterns in FD do not appear to negatively affect patient survival.
Background:
Children with familial dysautonomia (FD) are smaller and grow more slowly than the general population. It is unknown whether this abnormal growth is due to comorbidities that patients with FD live with, or if it is a direct effect of the disease-causing homozygous ELP-1 mutations. Here, we created growth curves for weight, height, and body mass index (BMI) in male and female children with FD to monitor the nutritional status of patients with FD.
Methods:
We used the New York University (NYU) FD Registry which includes data from 680 individuals with FD who were followed longitudinally since birth. We generated sex-specific FD growth charts for three age ranges (birth to 36 months, 2 to 20 years, and 2 to 40 years) and compared them to the general population. We generated Kaplan-Meier curves to test the hypothesis that FD patients with low BMI had shorter survival than the rest of the cohort.
Results:
Growth charts generated from 591 individuals with FD show that these patients grow more slowly, reach less height, and gain less weight than the general population. The impact of FD on height was more pronounced in girls than in boys. However, both groups showed markedly low weights, which resulted in low BMI. Low weight, but not height, is already evident at birth. In a subpopulation of FD patients, we found that treatment with growth hormone or spinal fusion surgery helped patients achieve the expected growth characteristic of FD patients, but these treatments did not lead FD patients to achieve the growth pattern of the general population. Contrary to our hypothesis, low BMI had no impact on patient survival.
Conclusions:
Pediatric patients with FD have lower height, weight, and BMI compared to the general pediatric population, but this does not appear to affect survival. Growth curves specific to the FD population are an important tool to monitor growth and nutritional status in pediatric patients with FD when the general population growth curves are of limited use.
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