The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
M A Gillentine, L N Berry, R P Goin-Kochel and 18 others
PMID 27853923WHAT IT FOUND
Children with CHRNA7 duplications often had speech or language delay, lower IQ scores, and reduced adaptive skills.
Speech delay affected 11 of 18, and five scored below 70 on IQ testing. This is a pattern, not evidence that a treatment works.
Key findings
01Among 18 probands, language or speech delay was the most prevalent comorbidity (n=11, 61%), and one patient was nonverbal.
02The average full-scale ratio IQ was 81, and five of 17 probands scored below 70, meeting criteria for intellectual disability.
03The average General Adaptive Composite score was 71.2, below the normative mean of 100, and nine individuals scored extremely low.
STILL TO COME
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What it does not show
The children were found through clinical genetic testing for developmental or behavioral concerns, so they are not representative of all people with this duplication. Only 18 children were studied, and some did not complete every test because of age or very low cognitive functioning. The participants were 5 to 14 years old, so later-onset conditions such as schizophrenia or bipolar disorder were not expected to appear. Five children had other copy number variants, and the study did not fully separate their possible contribution from the CHRNA7 duplication. The duplications were inherited in all known cases, and some parents had no reported neuropsychiatric features, so the genetic finding alone does not predict symptoms.
The easy way to misread this
Do not conclude that the CHRNA7 duplication alone caused the speech, cognitive, or adaptive difficulties. The children were found through clinical testing for existing problems, and the duplications were inherited in all known cases. This paper describes patterns, not treatment results.