Ricerc@Sapienza

BACKGROUND: Children affected by pathologies causing neurodisability go through motor, cognitive, sensory and other limitations. The selection of assistive products can influence their level of independence and quality of life. AIM: The present study investigated the possibility to assess the equipment needs of children with neurodisabilities, based on their clinical characteristics. DESIGN: A retrospective observational study. SETTING: Outpatients.

A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene.