Congenital Blindness and Autism Spectrum Disorder

CASE: Emily is a 10-year-old girl who is in fifth grade. She has known congenital blindness secondary to septo-optic dysplasia with bilateral optic nerve hypoplasia and precocious puberty. Emily was referred to a Developmental-Behavioral Pediatrics clinic for concerns of academic, social, and language challenges. Emily was born at term gestation after an uncomplicated pregnancy. At 4 months of age, she underwent ophthalmologic evaluation because of nystagmus, reduced visual tracking and response to light, and increased startle response to touch. An magnetic resonance imaging of the brain and orbits demonstrated bilateral hypoplastic optic nerves and the absence of posterior pituitary. Subsequent endocrinological evaluation for pituitary function was reassuring. Emily's early developmental milestones were delayed across all domains. She participated in early intervention programming including speech/language, physical, and occupational therapy with interval improvement in skills. She also received supports for low vision. In the elementary school, she received supports and services for low vision in a general education classroom. It was observed that Emily had reduced interest in her peers, a strong preference for routine, and distinctive play interests. As elementary school progressed, Emily had increasing challenges with academic achievement, despite performing well on formal testing in second grade. At a recent ophthalmology visit, Emily's best-corrected visual ac...
Source: Journal of Developmental and Behavioral Pediatrics - Category: Child Development Tags: Challenging Case Source Type: research