“Neurodevelopmental outcome of a child with UPD(16)mat: A case report”

Abstract

Objective

UPD(16)mat is a rare genetic condition characterized by intrauterine growth deficiency and multiple congenital malformations. To the best of our knowledge, neurodevelopmental disorders have never been described in association with UPD(16)mat, nor a comprehensive neuropsychological profile of a UPD(16)mat child has never been delineated. We present a young patient diagnosed with UPD(16)mat, and provide clinical description, comprehensive neurodevelopmental, neuropsychological and neurological assessment.

Method

Neuropsychological examination included global neurodevelopment and intelligence scales, as well as specific trials for gross-motor, fine-motor and perceptual motor abilities, and language skills.

Results

The patient shows multiple congenital anomalies, including oesophageal atresia, mild bone alterations, hypospadias, persistent left superior vena cava. The neurodevelopmental evaluation demonstrates a speech disorder, signs of gross and fine motor skills difficulties, balance and visuo-motor deficit.

Conclusion

Evidence from this study indicates that UPD(16)mat may present neuropsychological and/or minor neurological abnormalities. Monitoring both the early and late neurodevelopmental outcomes during childhood is recommended for the chance of an early intervention.