Unit of Pediatric Endocrinology, Hôpital de la Timone Enfant, Marseille, France.
Horm Res Paediatr. 2011;76(3):172-7. doi: 10.1159/000328454. Epub 2011 Aug 5.
To evaluate auxological parameters in children and adults with a 22q11.2 microdeletion syndrome (22q11.2 DS) and to compare prevalence of obesity to that in the French general population.
102 patients with 22q11.2 DS (49 males, 53 females) were recruited from birth to adulthood through a reference center in southern France.
Mean BMI Z score and mean height were normal (0.07 ± 1.49 SD, -0.87 ± 1.36 SDS, respectively). 16.1% of patients were overweight (including obese), 57% out of them being born small for gestational age for length versus 25% of non-overweight patients. During infancy, BMI increased in girls (+0.89 SD Z score). Childhood: 14.7% were overweight, prevalence similar to that of the in French children population. Adulthood: 19.2% were overweight. BMI Z scores were inversely correlated with neonatal length (p = 0.026) and female sex (p = 0.032) but positively associated with neonatal weight (p = 0.036). From analysis of neonatal data, 22q11.2 DS newborns were significantly shorter with regard to their weight (p < 0.01), even though mean neonatal measures were above -2 SDS.
Our study did not find a higher prevalence of overweight in 22q11.2 DS to that in the French population. The BMI Z score was inversely correlated with neonatal length and female gender but positively associated with neonatal weight.
评估患有 22q11.2 微缺失综合征（22q11.2 DS）的儿童和成人的生长参数，并将肥胖的患病率与法国普通人群进行比较。
通过法国南部的一个参考中心，从出生到成年共招募了 102 名 22q11.2 DS 患者（49 名男性，53 名女性）。
平均 BMI Z 评分和平均身高正常（分别为 0.07 ± 1.49 SD，-0.87 ± 1.36 SDS）。16.1%的患者超重（包括肥胖），其中 57%出生时身材矮小，而 25%的非超重患者出生时身材矮小。在婴儿期，女孩的 BMI 增加（+0.89 SD Z 评分）。儿童期：14.7%超重，患病率与法国儿童人口相似。成年期：19.2%超重。BMI Z 评分与新生儿长度呈负相关（p = 0.026），与女性性别呈正相关（p = 0.032），但与新生儿体重呈正相关（p = 0.036）。从新生儿数据分析，22q11.2 DS 新生儿的体重明显较短（p < 0.01），尽管新生儿的平均指标均高于-2 SDS。
我们的研究没有发现 22q11.2 DS 超重的患病率高于法国人群。BMI Z 评分与新生儿长度和女性性别呈负相关，但与新生儿体重呈正相关。
