Nutrition, Growth, and Endocrinological Issues in 22q11.2 Deletion Syndrome
The deletion of a small segment of chromosome 22 at the q11.2 location, which is what causes 22q11.2 deletion syndrome, also known as DiGeorge Syndrome or Velocardiofacial Syndrome, may affect multiple organ systems, and nutrition, growth, and endocrine function are frequently impacted.
1. Nutrition and Feeding Issues
Common problems:
- Feeding difficulties in infancy: Seen in up to 65–90% of children; these can include poor sucking, swallowing dysfunction, nasal regurgitation (due to palatal abnormalities), gastroesophageal reflux, and aspiration.
- Palatal abnormalities: Such as cleft palate or velopharyngeal insufficiency, can impair effective feeding.
- Hypotonia (low muscle tone): Can make feeding physically more difficult.
- Food aversions and picky eating: May persist into childhood and adolescence.
Implications:
- Risk of failure to thrive (FTT) during infancy and early childhood.
- Need for feeding therapy and sometimes gastrostomy (G-tube) feeding in severe cases.
2. Growth and Development
Growth patterns:
- Children often have short stature or growth delay especially in early years.
- Catch-up growth is possible, especially if feeding and medical issues are adequately managed.
- Some individuals remain shorter than average as adults, but many achieve near-normal final height.
Contributing factors:
- Nutritional deficiencies from poor intake.
- Cardiac defects (present in ~75%) increase metabolic demand.
- Endocrine dysfunction (e.g., hypocalcemia, hypothyroidism, growth hormone deficiency).
3. Endocrinological Issues
a. Hypocalcemia
- Most common endocrine issue.
- Caused by hypoplasia or aplasia of the parathyroid glands.
- May present in the neonatal period with seizures or tetany, but can also recur in times of stress (surgery, puberty, illness).
- Lifelong monitoring is needed.
b. Thyroid Dysfunction
- Congenital or acquired hypothyroidism occurs in a significant minority.
- May contribute to growth delay, fatigue, or cognitive issues.
c. Growth Hormone Deficiency
- Less common but reported.
- Should be considered in children with significant growth failure not explained by nutrition or other systemic issues.
d. Pubertal Disorders
- Delayed puberty or, less commonly, precocious puberty can occur.
- Fertility is generally normal unless other anomalies are present.
Monitoring and Management Recommendations
- Regular growth tracking using syndrome-specific growth charts if available.
- Calcium and vitamin D monitoring, especially in early childhood and during illness or stress.
- Thyroid function tests periodically.
- Developmental assessments to identify cognitive or motor delays that may impact feeding and growth.
- Multidisciplinary care: Nutritionist, endocrinologist, speech/feeding therapist, cardiologist, geneticist, and developmental pediatrician.