Language representation in children with 22q11 deletion syndrome and children with Specific Language Impairment

Developmental language impairments have a profound impact on an individual's
life. About 7% of children show severe and persistent delays in the development
of primary language skills (speaking and/or understanding) without any obvious
neurological, psychological or social causes. This condition is called specific
language impairment (SLI). The etiological heterogeneity of SLI currently
hampers our ability to advance the understanding of the trajectory from cause
to the neurocognitive deficits that ultimately lead to the abnormalities of
language (acquisition) that warrant a diagnosis of SLI. To overcome this
obstacle, a larger project by Prof. Frank Wijnen (*Language impairment in the
22q11.2 deletion syndrome: a model for SLI?*), aims to study a developmental
language disorder that overlaps phenotypically with SLI but has a uniform
genetic etiology: the 22q11.2 deletion syndrome (22q11DS). In a subproject, we
here aim to determine the language representation in the brains of children
with SLI and 22q11DS, in order to obtain an indepth insight into the language
development of both these groups, and relate behavioural and neuropsychological
information to information about language brain function and how the brain
processes language. The outcome of this study will not only shed light on the
usability of 22Q11DS as a model for SLI, but will also increase our
understanding of the underlying causes of these language development disorders
at the level of the brain.*

The main objective of this study is to determine the language representation in
the brain of children with SLI and 22q11DS.

Observational study

No direct benefits are expected for the subjects of the current study, but the
study is expected to increase our understanding of problematic language
development, which, in the long run, will contribute to adequate treatment.
There are no known risks associated with performing a tone-audiogram, language
tests or with fMRI acquisition and the risks of participating in the study are
therefore considered negligible. fMRI does not require administration of any
contrast agent or ionizing radiation. The UMC Utrecht has ample experience in
performing fMRI scans with (young) children. In a currently running fMRI study
for example (ethics protocol 16-373), we are successfully performing fMRI scans
with healthy children and children with epilepsy between 6 and 10 years old.
The scanner is handled by trained personnel and subjects are screened for metal
before entering the scanner.
Besides the risk, also the burden of participating in the study can be
considered negligible. Performing the language tasks may be somewhat tiring for
the participants, but included subjects will be relatively familiar with the
concept of doing language tasks since they have a diagnosis with a language
disorder, and as such, the tests will not pose a large burden on them. If
necessary, participants can take a pause between language tasks. Concerning the
fMRI scan: first, the fMRI procedure is painless, although slight discomfort
may occur due to lying still with the head and part of the body confined in a
tunnel-like device. Second, the fMRI tasks are much like computer games or
watching videos for children, and as such pose a minimal burden. Third, for all
children it will be considered to perform a practice scanning session in a
*mock-scanner* before the actual scan, in order to familiarize them with the
MRI setting (see Standard Operating Procedure Section 15) and practice the
tasks. When, during or after this practice session, it becomes clear that a
participant strongly dislikes the procedure, or considers the procedure scary,
the participant will be excluded from the study and no real MRI session will be
done. The decision to perform a mock-scan or not will be made in consultation
with the participant and his/her parents. Further measures taken to minimize
the burden are: If a subject experiences claustrophobia during scanning, or is
uncomfortable with any aspect of the procedure and wants to quit, the session
will be terminated. During scanning, the subjects are provided with earplugs
and/or headphones to protect them from scanner noise. Upon request, one of the
parents/caretakers is allowed to remain in the scanner room, close to the
subject. An intercom is available in the scanner to remain in contact with the
subject and the parent/caretaker during the whole session and an emergency
button is placed with the subject or parent/caretaker, with which he/she can
indicate to stop the procedure immediately.