P112 – 2543: Predictive value of congenital anomalies in pediatric neurology patients

Abstract

Objective Our purpose was to determine whether there are specific congenital anomalies that appear in a child with hypotonia (H) and/or developmental delay (DD), making the diagnosis of one of the dismorfology syndrome more likely, when present. Methods We studied a cohort of children (n=105) treated at Department of Pediatric Neurology, between ages of 1 month to 18 years. In the retrospective part of the study we included 79 children with H and/or DD and in the prospective part 26 children with genetically confirmed dysmorphology syndromes. For each child, we performed the entire clinical examination, including the neurological examination, assessment of congenital abnormalities and determination of developmental quotient. Diagnosis of genetic diseases was confirmed with laboratory methods. The results were statistically analyzed with two-way Fisher's exact test and binary logistic regression. Results 54.3% of children were first referred to our Department on account of congenital abnormalities. Children with congenital abnormalities had 17.9 times higher chance of presence of DD (p=0.000) and were 18.3 times more likely to have H (p=0.000). 11.4% of children had cerebral palsy, 35.2% epilepsy, 6.7% autism and 21.0% squint. Children with H and/or DD who had hypoplastic genitals, cryptorchidism, mongoloid eye slits position, posteriorly rotated ears, long nose, hypopigmentations or a thin upper lip, were significantly (p Conclusion When we find congenital abnormalities, such as short stature, hypoplastic genitals, cryptorchidism, mongoloid eye slits position, posteriorly rotated ears, long nose, hypopigmentations or a thiner upper lip in a child with hypotonia and/or developmental delay, it makes sense to reach for further – new, specific or targeted – genetic investigations, as we have shown that the probability of finding one of the dysmorphology syndromes is high.