# Language and Cognitive Features in a Girl with Bosch–Boonstra–Schaaf Optic Atrophy Syndrome

## TL;DR

This case report explores the cognitive and language development of a girl with a rare neurological condition called BBSOAS, highlighting the importance of early intervention.

## Contribution

The report expands the mutational and phenotypic spectrum of BBSOAS by documenting cognitive and speech-language features in a new case.

## Key findings

- The girl exhibited optic atrophy and developmental delays consistent with BBSOAS.
- Her cognitive and language assessments revealed specific developmental challenges.
- Early intervention and tailored support are emphasized for improving developmental outcomes.

## Abstract

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare neurological condition caused by a disruption in the NR2F-1 gene. The most common clinical features are optic atrophy and intellectual and developmental delay. This case report aims to describe the cognitive and language profile of a six-year-old girl diagnosed with BBSOAS, with a focus on the syndrome’s impact on her developmental outcomes. A detailed assessment of her cognitive and speech–language abilities is provided. Given the limited number of published case studies on BBSOAS, this report integrates relevant findings from the literature, including information on epidemiology, diagnostics, clinical manifestations, and developmental outcomes. It contributes to the expansion of the known mutational spectrum of BBSOAS, in addition to documenting its phenotypic presentation of cognitive and speech–language development. The case is analyzed within the context of current evidence, emphasizing the importance of early assessment, individualized intervention, ongoing developmental monitoring, and the potential for tailored support to promote optimal developmental outcomes.