Clinical characteristics and immunological status of patients with 22q11.2 deletion syndrome in Northern Thailand.

BACKGROUND: 22q11.2 deletion syndrome is one of the most prevalent microdeletion syndromes in humans. The syndrome is characterized by extensive phenotypic variability. OBJECTIVE: to investigate the clinical characteristics, immunological features, and intellectual status of 22q11.2 deletion syndrome patients at Chiang Mai University Hospital, Thailand. METHODS: Patients who had a confirmed diagnosis of 22q11.2 deletion syndrome by fluorescent in situ hybridization (FISH) were enrolled. Data collated and evaluated included that pertaining to history, physical examination, laboratory testing including T-cell, immunoglobulin, calcium, thyroid and parathyroid levels in the blood, cardiac and urological imaging, and intellectual status. RESULTS: 34 patients diagnosed with 22q11.2 deletion syndrome; 18 (53%) were female. The median age of patients was 18.5 months (IQR; 1.5-35.8). Ninety-one percent of patients had characteristic facial features; 94% had a congenital heart defect with tetralogy of Fallot being the most frequent (72%); 88% had hypocalcemia, and 35% had genitourinary tract abnormalities. Recurrence of 22q11.2 deletion syndrome in the family was detected in 18% of cases. Twenty-eight patients (82%) were found to have a low number or percentage of T-cells. Five patients (15%) had low immunoglobulin levels. Intellectual disability (IQ/DQ scores < 70) were found in 20 out of 25 patients who were evaluated (80%), whereas the other five (20%) performed at a level of borderline intellectual function. CONCLUSIONS: Tetralogy of Fallot, hypocalcemia, immunologic defect, and cognitive impairment were common in our 22q11.2 deletion syndrome study group. We recommend that all affected patients have a multi-system evaluation by a comprehensive care team.

Breastfeeding duration is associated with higher adiposity at 6-8 months of age.

Breastfeeding (BF) has been identified as a protective factor against childhood obesity. However, evidence of the association between BF duration and adiposity remains inconclusive. Few studies have been conducted among Southeast Asian infants that have measured body composition during infancy using the gold standard stable isotope method. This study aimed to evaluate the association between BF duration and body composition during infancy. Healthy full-term Thai infants aged 6-8 months (n = 60) receiving exclusive or predominant BF for at least 3 months were recruited. Skinfold thickness (SFT) was measured by well-trained investigators. Body composition was assessed by the deuterium dilution technique. Infants with longer BF duration (>6 months; mean 7.5 ± 0.5 months, n = 29) had a higher subscapular SFT z-score than those with shorter BF duration (≤6 months; mean 5.3± 0.9 months, n = 31) by 0.48 (95% confidence interval [CI]: 0.01-0.94). After adjustment for age and sex, BF duration and age at introduction of complementary feeding (CF) were positively associated with fat mass and fat mass index at 6-8 months. One month increase in BF duration and CF age was associated with a 0.37 (95% CI: 0.05, 0.69) kg/m2 and 0.76 (95% CI: 0.18, 1.34) kg/m2 increase in the fat mass index, respectively. After adjusting for infant body mass index (BMI) during the earlier infancy period, the strength of the association was attenuated. This finding may reflect reverse causality where infants with lower BMI received formula or CF earlier. A longitudinal study with follow-up into childhood is warranted to confirm the effects of BF on adiposity in infancy and childhood.