Assessment & Research

The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism.

Jutley-Neilson et al. (2013) · Research in developmental disabilities 2013
★ The Verdict

The SCQ over-calls ASD in kids with visual loss and low IQ, so verify results with clinical judgment.

✓ Read this if BCBAs who evaluate children with septo-optic dysplasia, optic nerve hypoplasia, or severe vision loss.
✗ Skip if Clinicians working only with typically developing or fully sighted clients.

01Research in Context

01

What this study did

Doctors gave the Social Communication Questionnaire (SCQ) to the children with septo-optic dysplasia or optic nerve hypoplasia. These kids have small or missing optic nerves and often can't see well.

The team also tested IQ and asked parents about autism traits. They wanted to know how many kids met ASD cut-offs and whether vision loss changed the scores.

02

What they found

Half the children scored above the ASD cutoff on the SCQ, but most of those also had severe intellectual disability. When IQ was low, the SCQ almost always said "possible autism," even if the child did not act autistic in daily life.

Vision level mattered too. Kids who were nearly blind missed SCQ questions that depend on seeing (like "does he point at planes?"). The tool called them autistic when the real problem was poor eyesight.

03

How this fits with other research

Amaral et al. (2017) saw the same pattern in Down syndrome: screening tools flag many kids, but social scores are milder than in typical ASD. Both studies warn us—syndrome plus low IQ can fake an ASD screen.

Smit et al. (2019) used the same SCQ in youth prisons and also found high false-positives. Together the papers show the SCQ works best when kids have average vision and no major cognitive delay.

Posserud et al. (2009) proved the SCQ is accurate in the general population. Jagjeet et al. now show that promise breaks down once vision or IQ drops—an apparent contradiction that disappears when you check the child's context.

04

Why it matters

If you assess a child with SOD/ONH, still screen for ASD, but never trust the SCQ alone. Add parent interview, direct observation, and a note about visual ability. When IQ is below 55, expect a high SCQ and gather extra evidence before you label—or treat—the child as autistic.

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Before scoring the SCQ, note which items need vision; if the child is blind or has severe ID, plan extra ADOS or caregiver interview to confirm any red flags.

02At a glance

Intervention
not applicable
Design
case series
Sample size
42
Population
developmental delay, autism spectrum disorder
Finding
inconclusive

03Original abstract

This study aimed to highlight the occurrence of autism spectrum disorders (ASDs) in children with septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH). A cross-sectional study was designed, including 28 children with SOD and 14 children with ONH. Clinician diagnosis of ASD was reported in 14 children. The Social Communication Questionnaire (SCQ) reported that 23 children met the cut-off point for ASD, and 9 children met the cut-off point for autism. Greater levels of intellectual disability and visual loss were reported in children with ASD in comparison to those without ASD, but, of the two, intellectual disability was a better predictor for ASD. The SCQ lost its sensitivity and specificity in children who had greater visual loss which highlights a requirement for a measure that is sensitive to visual loss. It is also recommended that children with SOD/ONH would benefit from routine screening for ASDs.

Research in developmental disabilities, 2013 · doi:10.1016/j.ridd.2013.09.004