Objectives: To compare parental attitudes about short stature over time and determine possible factors that predict changes in attitudes.
Study Design: At baseline (1993-1994), we surveyed parents about their attitudes regarding their children's height. We compared parents of children (aged 4-15 years) referred to endocrinologists (referred, 154) with those of children with heights <10th percentile seen by pediatricians during regular visits (control, 240). At follow-up (2008-2009), 103 control and 98 referred parents completed a similar survey. We then made a logistic regression analysis to observe changes in perception. Primary variables included self-esteem, treatment by peers, and ability to cope with current height.
Results: At baseline, referred parents perceived a worse impact of short stature on their children than did controls. At follow-up, instead, referred parents were 3.8 times more likely to report improvement in self-esteem, 2.4 times more likely to report improved treatment from peers, and 5.7 times more likely to report overall ability to cope with height than were unreferred parents. Perception of psychosocial improvement was greater in the referred than the control group. Referral was a stronger predictor of an improved follow-up response than patients' current height or change in height.
Conclusions: While incorporating parental attitudes into management decisions, clinicians should be aware that parental perceptions may change over time and that referral itself may lead parents to perceive psychosocial improvements over time.
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http://dx.doi.org/10.1016/j.jpeds.2020.01.010 | DOI Listing |
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFSudan J Paediatr
January 2024
Elite Center for Genetics Diagnosis, Khartoum, Sudan.
Trisomy 22 is a rare autosomal constitutional chromosomal disorder with high survival incompatibility being the third most frequent trisomy in spontaneous abortions and accounting for 10%-15% of all cases. Mosaic trisomy 22 is a less severe variant of the disorder associated with mild phenotype and longer lifespan compared to cases with complete trisomy 22. To date, there have only been 25 reported cases of trisomy 22 worldwide.
View Article and Find Full Text PDFBrain Spine
December 2024
Department of Neurosurgery, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
Introduction: Thoracolumbar kyphosis (TLK) is a frequently reported spinal deformity in achondroplasia, which in combination with the characteristic narrow spinal canal in achondroplasia predisposes for symptomatic spinal stenosis. There is however no consensus on the optimal treatment, due to limited data on diagnostic criteria, the natural development and the prevalence of TLK.
Research Question: This study aims to assess the prevalence, natural development, and diagnostic criteria for pathological TLK in individuals with achondroplasia.
Bone Res
January 2025
Institute of Life Course and Medical Sciences, Faculty of Health and Life Sciences, University of Liverpool, Liverpool, UK.
Low-density lipoprotein receptor-related protein 1 (LRP1) is a multifunctional endocytic receptor whose dysfunction is linked to developmental dysplasia of the hip, osteoporosis and osteoarthritis. Our work addresses the critical question of how these skeletal pathologies emerge. Here, we show the abundant expression of LRP1 in skeletal progenitor cells at mouse embryonic stage E10.
View Article and Find Full Text PDFIntroduction: Vosoritide is the first approved treatment for achondroplasia, a rare genetic disorder that results in disproportionate short stature. In clinical trials, vosoritide has shown a positive safety profile and increased height in children with achondroplasia. This paper shares the organizational structure, initiation, follow-up protocol, and findings of a vosoritide early access program (EAP) conducted in France.
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