Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.
A teen with maternal 15q duplication had severe visual-spatial deficits without autism—so screen for hidden visual problems in any child with this genetic finding.
01Research in Context
What this study did
Doctors wrote up one 16-year-old girl who carried an extra copy of maternal chromosome 15q11-q13. She had no autism, but math, puzzles, and hand-eye tasks were very hard.
The team gave IQ and visual tests. Verbal scores stayed normal. Performance IQ landed at 65, showing a big gap.
What they found
The teen showed a clear visual-spatial deficit. She could talk well yet could not judge space, copy shapes, or recall visual patterns.
The finding warns that 15q duplication can hurt visual skills even when autism signs are absent.
How this fits with other research
Fullana et al. (2007) saw the same genetic change in a 6-year-old girl, but that child had autism. Same DNA difference, different outcome. The younger girl had language delay; the older girl did not. Age and extra factors may shape the final picture.
Cardillo et al. (2022) tested many youths with autism on a complex figure task. They also found weak visual organization. David et al. now show that the weakness can appear without autism if the 15q change is present.
Diemer et al. (2023) describe a similar verbal-over-visual split in 3q29 deletion. Together these papers say: check non-verbal IQ in any rare chromosome disorder, even when language looks fine.
Why it matters
When you see a teen with unexplained math or motor trouble, ask about genetic reports. A maternal 15q duplication calls for extra visual supports, even if the child speaks well and shows no ASD traits. Add visual task analyses, use graph paper for math, and preview maps or diagrams before lessons. These small tweaks can save hours of frustration.
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02At a glance
03Original abstract
Duplications of chromosome 15 may be one of the most common single genetic causes of autism spectrum disorders (ASD), aside from fragile X. Most of the cases are associated with maternally derived interstitial duplication involving 15q11-13. This case report describes a female proband with a maternally derived interstitial duplication of proximal 15q. She did not exhibit any symptoms of ASD apart from some developmental delay. By adolescence, she showed mild dysmorphism, a discrepant profile on the Wechsler Intelligence Scale for Children (Verbal IQ = 87; Performance IQ = 65) and a major deficit in visual-spatial abilities affecting fine motor skills, mathematical reasoning, visual memory and some global reading tasks. This is one of the first reports of a child with a maternal duplication who exhibits a visual-spatial deficit without ASD.
Journal of autism and developmental disorders, 2007 · doi:10.1007/s10803-006-0228-5