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Long-term developmental outcome of children with a fetal diagnosis of isolated inferior vermian hypoplasia


Objectives Isolated inferior vermian hypoplasia (iiVH) is one of the most common fetal cerebellar anomalies presenting for fetal neurological counselling with controversial postnatal neurodevelopmental outcome. In the present study, we characterised the long-term neurodevelopmental outcome of prenatally diagnosed iiVH at school age.

Design and patients We prospectively followed 20 children with fetal MRI diagnosis of iiVH including their postnatal MRI result and developmental outcome at school age (mean 6.1 years±1.9 years SD) using a comprehensive age-appropriate developmental testing battery, which encompassed cognitive, language, social and behavioural domains. Parental stress level and socioeconomic status were also evaluated.

Results All children with postnatally confirmed iiVH had a normal neurodevelopmental outcome. A subgroup of children (2/20) who demonstrated cognitive delays and behavioural impairments had more extensive cerebellar malformation. Despite a normal developmental outcome, the parents of children with postnatally confirmed iiVH had higher parental stress compared with those parents whose children had normal postnatal MRI.

Conclusions Children with postnatally confirmed iiVH show age appropriate functioning at school age. Postnatal MRI is important to confirm the diagnosis of iiVH and to exclude associated anomalies that impact neurodevelopmental outcome. A diagnosis of iiVH is associated with persistent elevated parental stress despite normal developmental outcomes in these children suggesting the need for ongoing parental support.

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