Assessment & Research

The association between Coffin-Lowry syndrome and psychosis: a family study.

Sivagamasundari et al. (1994) · Journal of intellectual disability research : JIDR 1994
★ The Verdict

Coffin-Lowry syndrome brings deafness in boys and psychosis-with-depression in girls—screen for both.

✓ Read this if BCBAs working with clients who have rare genetic syndromes and ID.
✗ Skip if Clinicians only serving typically developing learners.

01Research in Context

01

What this study did

Sivagamasundari et al. (1994) mapped one family with Coffin-Lowry syndrome. They wrote down every member’s health and mind problems. No treatment was tested; they just described what they saw.

02

What they found

Mildly affected women in the family had psychosis with depression. Severely affected men were born totally deaf. The paper tells you to watch for these two problems in your own clients.

03

How this fits with other research

Whitehouse et al. (2014) saw the same pattern in adults with 22q11 deletion: genetic syndrome plus ID equals high psychosis risk. Both papers say, “Look past the disability label.”

Kushalnagar et al. (2017) adds a warning: deaf clients who could not talk with parents grow up with eight times more depression. U’s deaf boys may face the same road.

Symons et al. (2005) reminds us that severe ID can hide PTSD; U shows it can also hide psychosis. Same message—different label.

04

Why it matters

If you serve a client with Coffin-Lowry, add two quick screens. Ask the doctor about hearing tests for boys. Watch girls for sudden mood or thought changes. Early catch means earlier help and less crisis later.

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→ Action — try this Monday

Add a hearing check and mood question to your intake form for any new Coffin-Lowry case.

02At a glance

Intervention
not applicable
Design
case series
Population
intellectual disability, other
Finding
not reported

03Original abstract

This paper discusses a family presenting with features of Coffin-Lowry syndrome, namely abnormal facies, skeletal abnormalities and mental handicap. Two of the mildly affected females had psychotic illness with predominant depressive features, and all the severely affected males had profound sensorineural deafness.

Journal of intellectual disability research : JIDR, 1994 · doi:10.1111/j.1365-2788.1994.tb00436.x