Syndrome‐specific growth charts for 22q11.2 deletion syndrome in Caucasian children

Abstract

Growth faltering occurs frequently in infancy in the 22q11 Deletion syndrome (22q11 DS). The subsequent course of growth in childhood and outcome for final adult height lacks consensus. We analyzed 5,149 growth data points from 812 Caucasian subjects with 22q11 DS, from neonates to 37 years old. Charts were constructed for height, weight, body mass index, and head circumference (OFC) using the LMS Chart Maker program. These charts were compared with the WHO birth to 4 years growth standard and US CDC 2000 growth reference between 5 and 20 years. Starting from the 50th centile at birth, by 6-9 months of age boys mean height and weight had fallen to the 9th centile, as did girls height but their weight fell less markedly, to the 25th centile. Feeding difficulties were non-contributory. In children under 2 years old with congenital heart disease (CHD) mean weight was À0.5 SD lighter than no CHD. Catch up growth occurred, more rapid in weight than height in boys. Up to 10 years old both sexes tracked between the 9th and 25th centiles. In adolescence, the trend was to overweight rather than obesity. At 19 years mean height was À0.72 SD for boys, À0.89 SD girls. OFC was significantly smaller than the WHO standard in infancy, between the 9th and 25th centile, rising to the 25th centile by 5 years old. Thereafter the mean was close to the 9th centile of the OFC UK growth reference, more prolonged and marked than in previous studies.

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

“…We found evidence that 1q21.1 duplication carriers fall to the ~80th population height percentile 49 , equivalent to ~4 cm of height increase, close to our observed effect of 3.46 cm. Carriers of the 22q11.2 deletion have on average 3 kg/m 2 higher BMI by the age of 20 50 , which is comparable to our estimated effect of 4 kg/m 2 . Moreover, our pheWAS analysis on 27 traits in the UK Biobank did not identify any non-anthropometric trait to be stronger associated with the discovered CNVs.…”

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

“…Microcephaly was present in 30% of boys and 24% of girls before 1 year old. The final 22q11.2DS 50 percentile for head circumference was equivalent to the 9 percentile (−1.33 SD, WHO‐UK Chart) (Habel et al, 2012). …”

Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome

“…Since the development and stability of cognitive abilities in 22q11DS patients deviates from the general population, we established a 22q11DS-specific chart for intellectual development in 22q11DS, similar to growth charts for patients with this 38 and other syndromes. 39 Individual IQ measurements were used to calculate percentiles for each age stratum.…”