Phenotypic and Genotypic Profile of an Egyptian Sample of Children with Neurodevelopmental Disorders; Two Case Reports of Microdeletion 22q11.2 Syndrome (DiGeorge/Velocardiofacial Syndrome)

Background Psychiatric disorders in Pediatrics are often observed in association with other malformations and as a feature of well- defined genetic syndromes. Objectives Exploration of the phenotypic and genotypic profile of an Egyptian sample of children with a group of neurodevelopmental disorders (NDD). Methodology A cross sectional descriptive study was implemented on fifty Egyptian children with NDD, 43 of them were males (86%) and 7 were females (14%) and their ages ranged from 2 to 12 yrs with a mean age of 7.92? 1.95 yrs. Full clinical history taking, thorough clinical examination, ECG recording, plain X-ray of the chest and heart, echocardiography, and pelvi-abdominal sonographic examination were carried out for all enrolled children in addition to CBC, serum calcium, Pediatric Symptom Checklist (PSC) score, and IQ assessment. DSM 5 diagnostic criteria were used to confirm the type of NDD. On the other hand, chromosomal analysis using HRB and FISH searching for microdeletion 22q11.2 was done for 16 out of 50 studied cases (32%) when such deletion was clinically highly suspected. Results Craniofacial dysmorphism, congenital heart diseases (CHD), intellectual disability (ID), psychosocial impairment (PSI), hypocalcaemia, abnormal CBC, abnormal ECG, and abnormal echocardiographic findings were reported in 32%, 10%, 80%, 70%, 30%, 28%, 6%, and 10% of enrolled cases respectively. Different degrees of ID, Autism Spectrum Disorder (ASD) with different degrees of ID, and specific learning disabilities (LD) with normal or borderline IQ were diagnosed in 40%, 40%, and 20% of examined cases respectively. HRB and FISH revealed microdeletion 22q11.2 in 2 out of the16 examined cases (12.5%). In conclusion, Pediatricians' high index of suspicion of DiGeorge/velocardiofacial syndrome especially among children with different types of NDD is crucial to pick up such cases as early as possible. When confirmed, providing their families with efficient genetic counseling service and implementation of individualized management plan with early physical, behavioral, and or educational interventions for these cases are mandatory to improve their overall prognosis and minimize recurrence risk whenever possible.