Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers

2021 ◽  
pp. 1-7
Author(s):  
Janet M. Legare ◽  
Chengxin Liu ◽  
Richard M. Pauli ◽  
Adekemi Yewande Alade ◽  
S. Shahrukh Hashmi ◽  
...  
Keyword(s):  
Natural History ◽  
Skeletal Dysplasia ◽  
Natural History Study ◽  
Entire Cohort ◽  
University Of Texas ◽  
Medical Diagnoses ◽  
University Of Wisconsin ◽  
Johns Hopkins University ◽  
Texas Health ◽  
Over Time

OBJECTIVE The authors sought to determine the overall incidence of cervicomedullary decompression (CMD) in patients with achondroplasia and the characteristics associated with those surgeries across multiple institutions with experience caring for individuals with skeletal dysplasias. METHODS Data from CLARITY (Achondroplasia Natural History Study) for 1374 patients with achondroplasia from four skeletal dysplasia centers (A. I. duPont Hospital for Children, Johns Hopkins University, University of Texas Health, and University of Wisconsin School of Medicine and Public Health) followed from 1957 to 2017 were recorded in a Research Electronic Data Capture (REDCap) database. Data collected and analyzed included surgeries, indications, complications, ages at time of procedures, screening procedures, and medical diagnoses. RESULTS There were 314 CMD procedures in 281 patients (20.5% of the entire cohort). The median age of first CMD was 1.3 years in males and 1.1 years in females. Over time, there was a decrease in the median age of patients at first CMD. All patients born before 1980 who underwent CMD had the procedure after 5 years of age, whereas 98% of patients born after 2010 underwent CMD before 5 years of age. In addition, a greater proportion of patients born in more recent decades had documented neuroimaging and polysomnography (PSG) prior to CMD. Ventriculoperitoneal shunts (VPSs) were placed more frequently in patients undergoing CMD (23%) than in the entire cohort (8%). Patients who required either CMD or VPS were 7 times more likely to require both surgeries than patients who required neither surgery (OR 7.0, 95% CI 4.66–10.53; p < 0.0001). Overall, 10.3% of patients who underwent CMD required a subsequent CMD. CONCLUSIONS The prevalence of CMD in this large achondroplasia cohort was 20%, with more recently treated patients undergoing first CMD at younger ages than earlier patients. The use of neuroimaging and PSG screening modalities increased over time, suggesting that increased and better surveillance contributed to earlier identification and intervention in patients with cervicomedullary stenosis and its complications.

scholarly journals Growth in Achondroplasia Including Stature, Weight, Weight-for-Height and Head Circumference from CLARITY: Achondroplasia Natural History Study— A Multi-Center Retrospective Cohort Study of Achondroplasia in the US

2021 ◽  
Author(s):  
Julie Hoover-Fong ◽  
Kerry J Schulze ◽  
Adekemi Y Alade ◽  
Michael B Bober ◽  
Ethan Gough ◽  
...  
Keyword(s):  
Natural History ◽  
Skill Acquisition ◽  
Head Circumference ◽  
Clinical Care ◽  
Growth Curves ◽  
Cord Compression ◽  
Natural History Study ◽  
University Of Texas ◽  
Texas Health ◽  
Weight For Age

Abstract Background: Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalized spondylometaphyseal dysplasia which manifest as spinal cord compression, sleep disordered breathing, delayed motor skill acquisition and genu varus with musculoskeletal pain. To better understand the interactions and health outcomes of these potential complications, we embarked on a multi-center, natural history study entitled CLARITY (Achondroplasia Natural History Study). One of the CLARITY objectives was to develop growth curves (length/height, weight, head circumference, weight-for-height) and corresponding reference tables of mean and standard deviations at one month increments from birth through 18 years for clinical use and research for achondroplasia patients. Methods: All available retrospective anthropometry data including length/height, weight and head circumference from achondroplasia patients were collected at 4 US skeletal dysplasia centers (Johns Hopkins University, AI DuPont Hospital for Children, McGovern Medical School University of Texas Health, University of Wisconsin School of Medicine and Public Health). Weight-for-age values beyond 3 SD above the mean were excluded from the weight-for-height and weight-for-age curves to create a stricter tool for weight assessment in this population. Results: Over 37,000 length/height, weight and head circumference measures from 1,374 patients with achondroplasia from birth through 75 years of age were compiled in a REDCap database. Stature and weight data from birth through 18 years of age and head circumference from birth through 5 years of age were utilized to construct new length/height-for-age, weight-for-age, head circumference-for-age and weight-for-height curves. Conclusion: Achondroplasia-specific growth curves are essential for clinical care of growing infants and children with this condition. In an effort to provide prescriptive, rather than purely descriptive, references for weight in this population, extreme weight values were omitted from the weight-for-age and weight-for-height curves. This well-phenotyped cohort may be studied with other global achondroplasia populations (e.g. Europe, Argentina, Australia, Japan) to gain further insight into environmental or ethnic influences on growth.

scholarly journals Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Julie E. Hoover-Fong ◽  
Kerry J. Schulze ◽  
Adekemi Y. Alade ◽  
Michael B. Bober ◽  
Ethan Gough ◽  
...  
Keyword(s):  
Natural History ◽  
Skill Acquisition ◽  
Head Circumference ◽  
Clinical Care ◽  
Growth Curves ◽  
Cord Compression ◽  
Natural History Study ◽  
University Of Texas ◽  
Texas Health ◽  
Weight For Age

Abstract Background Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalized spondylometaphyseal dysplasia which manifest as spinal cord compression, sleep disordered breathing, delayed motor skill acquisition and genu varus with musculoskeletal pain. To better understand the interactions and health outcomes of these potential complications, we embarked on a multi-center, natural history study entitled CLARITY (achondroplasia natural history study). One of the CLARITY objectives was to develop growth curves (length/height, weight, head circumference, weight-for-height) and corresponding reference tables of mean and standard deviations at 1 month increments from birth through 18 years for clinical use and research for achondroplasia patients. Methods All available retrospective anthropometry data including length/height, weight and head circumference from achondroplasia patients were collected at 4 US skeletal dysplasia centers (Johns Hopkins University, AI DuPont Hospital for Children, McGovern Medical School University of Texas Health, University of Wisconsin School of Medicine and Public Health). Weight-for-age values beyond 3 SD above the mean were excluded from the weight-for-height and weight-for-age curves to create a stricter tool for weight assessment in this population. Results Over 37,000 length/height, weight and head circumference measures from 1374 patients with achondroplasia from birth through 75 years of age were compiled in a REDCap database. Stature and weight data from birth through 18 years of age and head circumference from birth through 5 years of age were utilized to construct new length/height-for-age, weight-for-age, head circumference-for-age and weight-for-height curves. Conclusion Achondroplasia-specific growth curves are essential for clinical care of growing infants and children with this condition. In an effort to provide prescriptive, rather than purely descriptive, references for weight in this population, extreme weight values were omitted from the weight-for-age and weight-for-height curves. This well-phenotyped cohort may be studied with other global achondroplasia populations (e.g. Europe, Argentina, Australia, Japan) to gain further insight into environmental or ethnic influences on growth.

scholarly journals Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

2021 ◽  
Author(s):  
Julie E. Hoover-Fong ◽  
Adekemi Y. Alade ◽  
S. Shahrukh Hashmi ◽  
Jacqueline T. Hecht ◽  
Janet M. Legare ◽  
...  
Keyword(s):  
Natural History ◽  
Medical Information ◽  
De Novo ◽  
Reference Population ◽  
The United States ◽  
Natural History Study ◽  
Surgical Interventions ◽  
Adverse Health Outcomes ◽  
University Of Wisconsin ◽  
Johns Hopkins University

Abstract Purpose Achondroplasia is the most common short stature skeletal dysplasia (1:20,000–30,000), but the risk of adverse health outcomes from cardiovascular diseases, pain, poor function, excess weight, and sleep apnea is unclear. A multicenter retrospective natural history study was conducted to understand medical and surgical practices in achondroplasia. Methods Data from patients with achondroplasia evaluated by clinical geneticists at Johns Hopkins University, A.I. duPont Hospital for Children, McGovern Medical School UTHealth, and University of Wisconsin were populated into a REDCap database. All available retrospective medical records of anthropometry (length/height, weight, occipitofrontal circumference), surgery, polysomnography (PSG), and imaging (e.g., X-ray, magnetic resonance imaging) were included. Results Data from 1,374 patients (48.8% female; mean age 15.4 ± 13.9 years) constitute the primary achondroplasia cohort (PAC) with 496 subjects remaining clinically active and eligible for prospective studies. Within the PAC, 76.0% had a de novo FGFR3 pathologic variant and 1,094 (79.6%) had one or more achondroplasia-related surgeries. There are ≥37,000 anthropometry values, 1,631 PSGs and 10,727 imaging studies. Conclusion This is the largest multicenter achondroplasia natural history study, providing a vast array of medical information for use in caring for these patients. This well-phenotyped cohort is a reference population against which future medical and surgical interventions can be compared.

scholarly journals Roundtable: Pulmonary Hypertension and Right Heart Failure in the ICU: Tackling Difficult Issues

2015 ◽  
Vol 13 (4) ◽  
pp. 202-207
Keyword(s):  
Pulmonary Hypertension ◽  
Right Heart Failure ◽  
Assistant Professor ◽  
Health Science ◽  
Pulmonary Vascular Disease ◽  
Science Center ◽  
University Of Texas ◽  
University Of Colorado ◽  
Johns Hopkins University ◽  
Texas Health

A group of thought leaders in management of pulmonary hypertension gathered by phone on January 27, 2015 to discuss their approach to difficult issues encountered when PAH and RV-failure patients are in the ICU. Read on to learn their perspective as guest editor Deborah Levine, MD, medical director of the PH Center at University of Texas Health Science Center in San Antonio moderates a discussion among Jeffrey Sager, MD, director of the Cottage Pulmonary Hypertension Center in Santa Barbara, California; Stephen Mathai, MD, MHS, assistant professor of medicine at Johns Hopkins University and member of the pulmonary hypertension program; and Todd Bull, MD, director of the Pulmonary Vascular Disease Program at the University of Colorado and member of the pulmonary and critical care and cardiology sections.

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