机构:
Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD USA
Johns Hopkins Univ, Ctr Human Nutr, Dept Int Hlth, Baltimore, MD USAJohns Hopkins Univ, McKusick Nathans Inst Genet Med, Greenberg Ctr Skeletal Dysplasias, 600 N Wolfe St Blalock 1008, Baltimore, MD 21287 USA
Schulze, Kerry
[3
,4
]
Alade, Adekemi Yewande
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h-index: 0
机构:
Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Greenberg Ctr Skeletal Dysplasias, 600 N Wolfe St Blalock 1008, Baltimore, MD 21287 USAJohns Hopkins Univ, McKusick Nathans Inst Genet Med, Greenberg Ctr Skeletal Dysplasias, 600 N Wolfe St Blalock 1008, Baltimore, MD 21287 USA
Alade, Adekemi Yewande
[1
]
Scott, Charles I.
论文数: 0引用数: 0
h-index: 0
机构:
Thomas Jefferson Univ, Sidney Kimmel Med Coll, AI DuPont Hosp Children, Wilmington, DE USAJohns Hopkins Univ, McKusick Nathans Inst Genet Med, Greenberg Ctr Skeletal Dysplasias, 600 N Wolfe St Blalock 1008, Baltimore, MD 21287 USA
Scott, Charles I.
[5
]
机构:
[1] Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Greenberg Ctr Skeletal Dysplasias, 600 N Wolfe St Blalock 1008, Baltimore, MD 21287 USA
[2] Johns Hopkins Univ, Dept Biostat, Baltimore, MD 21205 USA
achondroplasia;
anthropometry;
growth;
growth curve;
height-age;
HEAD CIRCUMFERENCE;
STANDARDS;
WEIGHT;
D O I:
10.1002/ajmg.a.38150
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
The height-for-age (HA) reference currently used for children with achondroplasia is not adaptable for electronic records or calculation of HA Z-scores. We report new HA curves and tables of mean and standard deviation (SD) HA, for calculating Z-scores, from birth-16 years in achondroplasia. Mixed longitudinal data were abstracted from medical records of achondroplasia patients from a single clinical practice (CIS, 1967-2004). Gender-specific height percentiles (5, 25, 50, 75, 95th) were estimated across the age continuum, using a 2 month window per time point smoothed by a quadratic smoothing algorithm. HA curves were constructed for 0-36 months and 2-16 years to optimize resolution for younger children. Mean monthly height (SD) was tabulated. These novel HA curves were compared to reference data currently in use for children with achondroplasia. 293 subjects (162 male/131 female) contributed 1,005 and 932 height measures, with greater data paucity with age. Mean HA tracked with original achondroplasia norms, particularly through mid-childhood (2-9 years), but with no evidence of a pubertal growth spurt. Standard deviation of height at each month interval increased from birth through 16 years. Birth length was lower in achondroplasia than average stature and, as expected, height deficits increased with age. A new HA reference is available for longitudinal growth assessment in achondroplasia, taking advantage of statistical modeling techniques and allowing for Z-score calculations. This is an important contribution to clinical care and research endeavors for the achondroplasia population.
机构:
Babol Univ Med Sci, Social Determinants Hlth Res Ctr, Hlth Res Inst, Babol Sar, Mazandaran, IranBabol Univ Med Sci, Social Determinants Hlth Res Ctr, Hlth Res Inst, Babol Sar, Mazandaran, Iran
Esmaili, Haleh
Hajiahmadi, Mahmoud
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机构:
Babol Univ Med Sci, Noncommunicable Pediat Dis Res Ctr, Hlth Res Inst, Babol Sar, Mazandaran, IranBabol Univ Med Sci, Social Determinants Hlth Res Ctr, Hlth Res Inst, Babol Sar, Mazandaran, Iran
Hajiahmadi, Mahmoud
Fathi, Maryam
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h-index: 0
机构:
Babol Univ Med Sci, Student Res Ctr, Babol Sar, Mazandaran, IranBabol Univ Med Sci, Social Determinants Hlth Res Ctr, Hlth Res Inst, Babol Sar, Mazandaran, Iran