Characterization of early communicative behavior in mouse models of neurofibromatosis type 1.
Susan E Maloney, Krystal C Chandler, Corina Anastasaki and 3 others
PMID 28842941WHAT IT FOUND
Mouse pups with NF1 gene changes made abnormal ultrasonic calls when separated from their mother.
Germline mutants called more, while mutants with Nf1 deleted in developing brain cells called less, without obvious early physical delay.
Key findings
01Nf1 +/− mouse pups produced more ultrasonic calls than control littermates when separated from the dam.
02Nf1 GFAP CKO mouse pups produced fewer ultrasonic calls than control littermates, especially at P7.
03Nf1 GFAP CKO mouse pups were lighter than controls at P14, but early physical milestones and righting reflex were not different.
STILL TO COME
How it was doneWhat they found
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What it does not show
The study was done in mouse pups, not in children or adults with NF1, so it does not show human speech, language, or communication outcomes. The two mouse models had different genetic changes and affected different cell populations, so their opposite ultrasonic call patterns cannot be combined into one expected NF1 communication profile. Some Nf1 GFAP CKO pups produced fewer than 10 calls, which limited analysis of call features. Whole-brain serotonin and dopamine levels were measured, so changes in specific brain regions may have been missed. Sex effects were not fully settled; the Nf1 +/− breedings produced slightly more females, so the study may have been underpowered to detect a sex difference. The study tested development and vocalizations, not therapy, so it cannot guide treatment choices.
Declared interests
The supplied text does not include an author conflict-of-interest statement. The publication types list research support from NIH extramural and non-U.S. government sources.
The easy way to misread this
Do not treat these mouse ultrasonic calls as evidence of a human speech or language disorder. The study found opposite vocalization changes in two mouse lines and did not test people with NF1.