X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4.
Henrik Smeds, Jeremy Wales, Eva Karltorp and 6 others
PMID 34133399WHAT IT FOUND
Aided hearing thresholds were similar, but children with IP3 malformation had poorer speech recognition, vocabulary, social communication, and more attention and hyperactivity concerns than matched cochlear implant controls.
Key findings
01Aided hearing thresholds at 0.5, 1, 2, and 4 kHz did not differ significantly between groups, but speech recognition was significantly poorer in children with IP3 malformation in quiet and noise.
02Children with IP3 malformation had poorer expressive vocabulary, speech intelligibility, social communication, and phonological working memory than controls, while nonverbal cognitive ability did not differ.
03Four children with IP3 malformation had ADHD diagnoses, another was under investigation for ADHD, and a sixth child had an ASD diagnosis; no control children had neurodevelopmental diagnoses.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study included only 10 children with IP3 malformation and 10 controls, and several tests were completed by fewer children because of age or fatigue. The IP3 group contained only six probands, and five of the 10 children were related, so co-inherited traits could explain some difficulties. The design was cross-sectional and exploratory, so it cannot show that POU3F4 mutations caused the language, attention, or mental-health findings. Some executive-function results relied on parent and teacher questionnaires or a small subset of children, and formal attention testing was completed by only four children per group. The control group was not known to have the same exact GJB2 mutations, and other X-linked genes related to attention were not tested. The IP3 group had more severe hearing loss before implantation, although postoperative aided thresholds were similar.
Declared interests
Funded by Hörselskadades Riksförbund (National Association of Hearing Impairment) and ALF. The authors declared no conflicts of interest.
The easy way to misread this
Do not conclude that POU3F4 mutations cause ADHD, ASD, or language disorder. The study was small, cross-sectional, included related children, and many tests were completed by only part of the group; it shows a pattern of difficulties, not proof of cause or a syndrome.