Background: 22q11.2 deletion syndrome (22q11.2DS) is caused by recurrent, chromosome specific, low copy repeat mediated copy number losses of chromosome 22q11. The Children’s Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. Methods: We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly confirmed 22q11.2DS from 1992 to 2018. Results: Most individuals are Caucasian and older than eight years old. The median age at diagnosis was 360 days. The majority of patients (85%) had typical LCR22A-LCR22D deletions, and only 7% of these typical deletions were inherited from a parent harboring the deletion constitutionally. However, 6% of individuals harbored other nested deletions that would not be identified by traditional 22q11.2 FISH, thus requiring an orthogonal technology to diagnose. Major medical problems included immune dysfunction or allergies (77%), palatal abnormalities (67%), congenital heart disease (64%), gastrointestinal difficulties (65%), endocrine dysfunction (>50%), scoliosis (50%), renal anomalies (16%), and airway abnormalities. Median full-scale IQ was 76, with no significant difference between individuals with and without congenital heart disease or hypocalcemia. Characteristic dysmorphic facial features were present in most, but dermatoglyphic patterns of our cohort are similar to normal controls. Conclusions: This is the largest longitudinal study of patients with 22q11.2DS, helping to further describe the condition and aid in diagnosis and management. Further surveillance will likely elucidate additional clinically relevant findings as they age.

Objective The effectiveness of annual diabetic eye exams in children is unclear. We sought to determine the prevalence and onset of ocular pathology in children with diabetes mellitus (DM), identify risk factors for ocular disease, and recommend a screening regimen for asymptomatic children. Design Retrospective consecutive cohort study. Subjects Children less than age 18 years with type 1 or 2 DM examined over a 4 year period. Methods All children underwent a complete eye exam, including dilated fundoscopy and cycloplegic refraction. A literature review was performed, identifying the youngest reported age and shortest reported duration of DM prior to the diagnosis of diabetic retinopathy. Main outcome measures Prevalence of diabetic retinopathy, cataract, high refractive error, and strabismus. Results 370 children (mean age 11.2 years, range 1–17.5) had 693 examinations, with mean DM duration 5.2 years (range 0.1–16.2), mean HbA1c 8.6 (range 5 to ≥14). No children had diabetic retinopathy. 12 had cataract; 5 required extraction but were identified by decreased vision, not diabetic screening. 19 had strabismus; only one was microvascular paralytic strabismus. 41 had high refractive error. There were no associations between these conditions and duration or control of DM. In the literature, the youngest age at diagnosis of severe diabetic retinopathy was 15 years and the shortest duration of disease was 5 years. Conclusion Diabetic retinopathy is rare in children regardless of duration and control of DM. Based upon our study and literature review, screening examinations for type 1 diabetics could begin at age 15 years or at 5 years after the diagnosis of DM, whichever occurs later, unless the child is judged by the endocrinologist as being at unusally high risk. Other ocular complications are identifiable through existing amblyopia screening methods.

Purpose-To describe the prevalence of retinal hemorrhages in children being evaluated for abusive head trauma and quantify the association between the likelihood of abuse and the presence and severity of retinal hemorrhages.Methods-Retrospective cross-sectional study of 110 children aged 15 months or younger who were evaluated for abusive head trauma and received an ophthalmological examination. The child abuse specialist's diagnosis was categorized as definite accident, probable accident, probable abuse, or definite abuse, according to an algorithm that excluded eye findings. Retinal hemorrhage severity was scored on a 12-point scale (6 points per eye) based on type, size, location, and extent. Higher scores indicated greater severity of eye findings.Results-Seventy-four percent of children were under 6 months old. Forty-five percent of cases were definite-abuse and 37% were definite-accident. The prevalence of retinal hemorrhages was 32%. Across all subjects, the presence of retinal hemorrhage was highly associated with definite or probable abuse versus definite or probable accident (age-adjusted odds ratio 5.4 [95% CI, 2.1-13.6]). The odds ratio in children under age 6 months (n = 81) was 11.7 (95% CI, 2.9-66.8). Retinal hemorrhage severity was higher in abuse versus accident (p < 0.0001) and correlated positively with abuse (Spearman r = 0.406, p < 0.0001). Scores above 8 (n = 13) were only present in abused children Conclusions-Retinal hemorrhages are highly associated with abusive head trauma, particularly in children under age 6 months. Increasing retinal hemorrhage severity is correlated with increasing likelihood of abuse.