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Corpus Callosum Agenesis: Speech and Language Disorder

Authors:
  • Anadolu University & Uskudar University

Abstract

INTRODUCTION: Corpus callosum agenesis is a rare congenital condition result from a fiberal malformation. Individuals with corpus callosum agenesis may have different symptoms. This study aims to introduce a rare condition and inform about ongoing assessment and treatment processes. METHODS: 1 participant diagnosed with corpus callosum agenesis who is 42 months was assessed with TEDİL and TİGE assessment tests and had speech and language therapy for 18 months. While therapy was continuing, the second evaluation was carried out. RESULTS: The participant was found to produce only 5-6 single words in the beginning of intervention besides exhibiting many of behavioral problems. With 18 month sessions, the participant was able to not only use more words, word combination and pragmatic gestures but also have eye contact, imitation skills and less behavioral problems. DISCUSSION AND CONCLUSION: The results were similar to the ones in related studies which focus on corpus callosum agenesis which shows that the participant has had developmental delay and speech & language disorder. It is stated that intervention and assessment process is better conducted with multidisciplinary team Keywords: corpus callosum, agenesis, developmental disorders, language disorder, speech and language therapy
Language and Speech Disorder in Agenesis of the
Corpus Callosum
Correspondence (İletişim): Özlem Oğuz, M.D. Uskudar Universitesi, Dil ve Konuşma Terapisi Anabilim Dalı, Istanbul, Turkey
Phone (Telefon): +90 216 400 22 22 E-mail (E-posta): ozlem.oguz@uskudar.edu.tr
Submitted Date (Başvuru Tarihi): 29.03.2019 Accepted Date(Kabul Tarihi): 05.08.2019
Agenesis of the corpus callosum (ACC) is a condition in
which the commissural bers are unable to cross the
midline. Instead of a thick band, a blunt band forms, which
proceeds posteriorly medial to the lateral ventricles. ACC is
caused by a variety of factors. Epigenetic interactions, pre-
natal infections, maternal rubella, trisomy 8, 13, and/or 18,
Andermann syndrome, Aicardi syndrome, and fetal alco-
hol syndrome, among other factors, may contribute to the
diagnosis of people with ACC[1-3]. ACC can be diagnosed
on its own or in combination with other conditions such
as hippocampal abnormalities, cleft lip and palate, mental
retardation, and hearing loss.
When looking through the literature, it becomes clear that
most studies on people with ACC are conducted by pro-
fessionals in the elds of neurology and genetics, and that
these studies are done as case reports. There has been
research on the development of language and speech in
people who have agenesis, but these studies usually have
results that can be used to prole the disease. Mentioned
results show that individuals with AAC may have develop-
mental delay, low muscle tone, poor motor coordination,
feeding and swallowing problems, high tolerance to pain,
sleep-related problems (sleepwalking, bedwetting, etc.),
diculty in maintaining attention, hyperactivity, restless-
ness, diculty in executive functions such as problem
solving, abstract thinking, making inferences, establishing
cause-eect relationships, understanding/interpreting
social cues, and understanding expectations. Individuals
This study intends to provide information about a rare condition caused by a fiberal abnormality, as well as ongoing assess-
ment and treatment procedures. One 42-month-old participant with corpus callosum agenesis was assessed using the TEDIL
and TIGE assessment tests and had speech and language treatment for 18 months following that. The second examination
was carried out while therapy was still in progress. In the beginning of the intervention process, the participant was found to
produce only 5-6 single words while also exhibiting a variety of behavioral issues. The participant was able to use more words,
word combinations, and pragmatic gestures after 18 months of sessions, as well as having better eye contact, imitation abilities,
and less behavioral issues. The findings were similar to those of other studies focusing on corpus callosum agenesis, which indi-
cates that the participant had developmental delays and speech and language disorders. It is believed that a multidisciplinary
team would be more effective in conducting the intervention and assessment procedure.
Keywords: Agenesis; corpus callosum; developmental disorders; language disorder; speech and language therapy.
Özlem Oğuz1, Şükrü Torun2
1Department of Speech and Language Therapy, Üsküdar University, Istanbul, Turkey
2Department of Speech and Language Therapy, Anadolu University, Eskişehir, Turkey
Abstract
DOI: 10.14744/hnhj.2019.50103
Haydarpasa Numune Med J 2021;61(3):352–356
hnhtipdergisi.com
HAYDARPAŞA NUMUNE MEDICAL JOURNAL
CASE REPORT
Copyright 2021 Haydarpaşa Numune Medical Journal
OPEN ACCESS This is an open access article under the CC BY-NC license (http://creativecommons.org/licenses/by-nc/4.0/).
353
Oğuz et al., Language and Speech Disorder in Agenesis of the Corpus Callosum / doi: 10.14744/hnhj.2019.50103
diagnosed with AAC have prolonged reaction and pro-
cessing time in cognitive tasks, particularly when process-
ing complex information[4,5]. Researchers claim that while
normal intelligence levels can be seen in some cases, lan-
guage and speech development is usually delayed[3]. Ac-
cording to studies undertaken to examine the language
performance of people with ACC, these people have de-
layed language and speech development, diculties in
receptive and expressive language in nonverbal communi-
cation, and issues related to understanding emotions and
thoughts of others[3]. Sensory problems and diculties in
sensorimotor, cognitive, emotional, and language skills are
common in people with ACC[5,6]. Many cognitive skills such
as learning, memory, recalling and problem solving were
found to be impaired in Erickson et al.[6], conducted a study
with 26 participants with ACC. In another study by Man-
gione et al.[7], signicant dierences in gross motor, ne
motor, receptive language, and overall development were
reported between the experimental and control groups.
In a retrospective study conducted by Le Doussal et al.[8]
over a 24-year period, it was discovered that neurodevelop-
mental outputs were typical or mildly impaired in 88% of
the cases, that neurodevelopmental progress was slow in
all participants, and that individuals with ACC were at high
risk (64%) of speech disorders[8]. Individuals with ACC may
be highly sensitive to nuanced language and subtext in
social and emotional relationships, or they may misunder-
standings during these sort of interactions[9]. The corpus
callosum is crucial for lateralization of speech function to
the left hemisphere and in ACC cases, there is no left hemi-
spheric specialization for speech function. As a result, cor-
tical language processing occur in two hemispheres and
in auditory and visual language tasks, both hemispheres
activate in incomplete AAC and predominantly right hemi-
sphere activates in complete ACC[10,11]. It is also suggested
in these research that there is a positive correlation be-
tween language specic lateralization and verbal IQ, and
hence lack of language specic left hemisphere lateraliza-
tion is linked to poor verbal IQ[10,11].
The aim of this study is to provide information on evalua-
tion and intervention processes in a case of corpus callo-
sum agenesis, which is not commonly seen.
Case Report
Participant
The study included a 3.8-year-old participant who applied
to the Üsküdar University Language and Speech Therapy
Application and Research Center (ÜSESKOM) with di-
culties related to speech output and intelligibility due to
corpus callosum agenesis. When corpus callosum agenesis
was suspected during a detailed fetal ultrasound examina-
tion performed during a routine control in the sixth month
of pregnancy, the participant was referred to another hos-
pital, where an evaluation was conducted by a committee
consisting of gynecology, pediatric neurology, and neuro-
surgery clinics, and the participant was followed up with
fetal magnetic resonance imaging (MRI) every three weeks
(Figs. 1-3). In the eighth month of pregnancy, the partic-
ipant was diagnosed 'Agenesis of the Corpus Callosum'. At
the age of one month, the participant was referred to reha-
bilitation by a pediatric neurologist, and at the age of two,
the participant began receiving special education support
and had private lessons, swimming and horseback rid-
ing training and enrolled in kindergarten, as well as three
hours of physical rehabilitation per week.
The mother noted that the participant had some behav-
ioral issues, as well as crying to express her self-care needs,
and had involuntary movements in her body in circum-
stances of panic and fright during the initial interview. The
mother also mentioned that the participant was so stub-
born and also the speech intelligibility is very low even
though the participant could produce all sounds. What the
participant could do, according to the mother, is as follows:
Making eye contact with parents.
Maintaining joint attention for a certain period of time.
Looking at her parents and laughing when she is joyful.
Playing with toys at home.
Practicing what is learnt during sessions after model-
ling cues home.
Enjoying weekend activities.
Trying to adjust new people and environment at
kindergarten.
Not crying at kindergarten.
Being extremely fond of father.
Enjoying spending time on mobile phone.
Being able to say ‘mother and ‘father’.
Data Collection Method
In the study, detailed assessment of the participant's speech
and language skills were conducted twice, at the begin-
ning and after the 18th session of the therapy process. The
language development was evaluated with Test of Early
Language Development’ (TEDIL- Topbaş & Güven, 2014), the
Turkish version of TELD-3 (Test of Early Language Develop-
ment) which aims to assess receptive and expressive lan-
354 Oğuz et al., Language and Speech Disorder in Agenesis of the Corpus Callosum / doi: 10.14744/hnhj.2019.50103
guage skills of children aged 2;0-7;11. TEDIL includes two
forms, Form A and Form B, and 76 items in total. Besides
TEDIL, Turkish version of the ‘MacArthur-Bates Communica-
tive Development Inventory (Fenson et al., 1993; MB-CDI)
(Türkçe İletişim Gelişimi Envanteri, Acarlar et al., 2009; TIGE)
was used to gather information. The TIGE consisted of two
forms: TIGE I-TIGE II which evaluate the language skills of
'16-36 months' children based on parental opinion. TIGE
II (16-36 months) was used in present study. In addition
to standardized testing procedures, the 'Pediatric Family
Interview Form', which were prepared to be used within
USESKOM, were completed. During informal assessment
procedures, the parents are interviewed with detailed
open-ended questions and the participant was observed
in terms of motor and language development during free
play.
Initial Assessment
During the initial evaluation phase, the participant did
not reply to any instructions in the TEDIL and scored zero
points in the receptive-expressive language domains. The
parents were unable to complete TIGE II due to a lack of
data on which to ll out the language performance form.
The language samples acquired were not qualied or su-
cient for transcription, hence transcription and analysis of
the sample were not possible. It was observed that the par-
ticipant did not have any linguistic output and lacked pre-
verbal pragmatic skills. Additionally, evidence of apraxia
was discovered during an oral motor evaluation.
Second Assessment
A total of 18 weekly speech and language therapy sessions
(45 minutes each) were completed. The participant's eye-
contact skills improved after the rst four sessions compared
Figure 1. Magnetic resonance imaging (MRI) showing corpus callo-
sum agenesis (CCA).
Figure 2. Magnetic resonance imaging (MRI) showing corpus callo-
sum agenesis (CCA).
Figure 3. Magnetic resonance imaging (MRI) showing corpus callo-
sum agenesis (CCA).
355
Oğuz et al., Language and Speech Disorder in Agenesis of the Corpus Callosum / doi: 10.14744/hnhj.2019.50103
to the previous sessions. The participant was more interested
in activities involving oral motor skills, but the verbal output
was still lacking. The parent was given the TIGE II again at
the second assessment, and TEDIL was administered to the
participant once again. Based on the data obtained after
conducting the TIGE test, it was discovered that the partic-
ipant was signicantly behind peers. The participant was
only able to say 8 of 711 words across 21 categories in TIGE
II. In vocabulary section of TIGE, only two of the ve items,
'often' and 'sometimes' were reported to have been used.
Due to a lack of relevant and sucient language output, the
grammar section of TIGE II was unable to be completed. The
longest sentences heard from the case were ‘’Işığı kapa (Turn
o the light) and “Ersel gitti (Ersel is gone) and both of which
were two-word combinations, as the family reported in the
last section of the TIGE II exam. When the data was analyzed,
it was discovered that the expressive language skills of the
participant were well behind of peers.
The participant's TEDIL test results are listed in the table be-
low (Table 1).
The dierence between the TEDIL receptive and expressive
Language Subtest scores is higher than 15, indicating that
the participant seems to have a language disorder. Recep-
tive language was also found to be signicantly higher
than expressive language.
Interviews with parents were conducted in order to assess
the process and determine the impact of the intervention on
language development. The participant's parents reported
that the participant demonstrated positive improvements in
initiating and maintaining communication. While the partic-
ipant could only produce 5-6 words at the beginning of ther-
apy, after 18 sessions, the participant was able to produce
approximately 20-25 words. Furthermore, it was noted that
the participant progressively started to show object through
gestures, as well as performing verbal and motor imitations.
It was reported that the participant produced two word
combinations in some situations and behavioral problems
such as crying and hitting were reduced.
During the initial assessment, it was noted that the par-
ticipant lacked a sucient language output to assess lan-
guage performance. However, the results of the post-ther-
apy assessment revealed that, while the participant could
not yet perform at a level comparable to peers in terms of
language, she was improving and positive improvements
in the development of behavior and language perfor-
mance developed in participant allowing evaluation.
Discussion
The language abilities of a participant diagnosed with ACC
were assessed before and after speech and language ther-
apy in this study. Similar to other studies in the literature,
it was found that she had developmental delay compared
to peers and did not have a language development suit-
able for her chronological age[3,5,12]. Multiple structural
and functional problems such as developmental delay,
low muscle tone, poor motor coordination, sucking/ eat-
ing problems, sleep-related problems (sleepwalking,
bedwetting, etc.), diculty maintaining interest, hyperac-
tivity, and restlessness, which are frequently reported in
individuals with ACC, were also present in the participant
of this study[12-14]. In our study, we found that the partici-
pant with ACC was in the high-risk group for a diagnosis of
speech and language disorders, similar to ndings of Le-
Doussal et al[8]. Receptive language skills are better than
expressive language abilities in individuals with ACC, how-
ever their performance diers from their peers[7]. Relevant
assessments have also indicated that our participant had
considerable delays in word and sentence use. Language
performance in the ACC can be dened within the frame-
work of issues noticed in delayed language and speech,
receptive and expressive language in nonverbal communi-
cation, as noted by Badon et al.[3] and it was also accurate
in our study. In addition to the language delays, the indi-
vidual has been observed during therapy to have a variety
of sensory and motor decits, which is consistent with the
literature[4,5]. Unlike typically developing peers, our par-
ticipant was found to have impairments in ne and motor
abilities, as well as diculty walking and engaging in tasks
that needed ne motor skills as reported in the literature[7].
Even after short-term (18-session) therapy, encouraging
improvements in the participant were observed related
Table 1. Findings related to TEDIL receptive and expressive language subtests
Receptive Expressive Receptive Expressive Receptive Expressive
language language language language language language
raw score raw score std. score std. score equivalent equivalent
age (Month) age (Month)
18 8 105 59 39 12
*: The participant is 3.5 years old at the time of this assessment; TEDIL: Test of Early Language Development (Topbaş&Güven, 201).
356 Oğuz et al., Language and Speech Disorder in Agenesis of the Corpus Callosum / doi: 10.14744/hnhj.2019.50103
to diculties in the rst assessment such as the absence
of verbal output, diculty exhibiting pragmatic skills such
as having eye contact-joint attention, and frequent be-
havioral problems. In circumstances where verbal output
is limited, reinforcing preverbal pragmatic gestures such
as pointing rather than unpleasant behavior such as 'cry-
ing' has improved communication eciency. Although
there are few studies on the eectiveness of speech and
language therapy in ACC cases, based on the ndings of
this study, it is believed that with an eective intervention
process, individuals who have been diagnosed by an in-
terdisciplinary team can develop skills to compensate for
their decits.
Conclusion
Dierent assessments to determine general development,
language, and speech characteristics in ACC are thought
to be studied with studies involving more participants for
more detailed and consistent results. Clinicians and re-
searchers will benet from new studies assessing the e-
cacy of speech and language treatment in which alterna-
tive goals are pursued in areas such as voice, swallowing,
or prosody, and/or evidence-based language intervention
approaches are applied systematically in ACC cases. Cases
with ACC should be followed up in a multidisciplinary
framework by experts in disciplines such as pediatrics, pe-
diatric neurology, genetics, endocrinology, psychology,
physiotherapy, and speech-language therapy, because
they frequently present with a clinical picture that com-
bines multiple disorders. This suggestion is supported by
our ndings during the assessment and therapy processes
of the participant we presented.
Other diagnoses or other conditions that may impact lan-
guage function, such as cerebellar atrophy, which can be
seen on MRI scans (Figs. 1-3), were also present in our par-
ticipant. However, due to the participant's severe language
development impairments, evaluating the eects of these
factors on language independently wasn’t practicable.
However, it may be proposed that these factors be consid-
ered when designing a study, if any at all possible.
Informed Consent: Written informed consent was obtained
from the patients' family for the publication of the case report
and the accompanying images.
Peer-review: Externally peer-reviewed.
Conict of Interest: None declared.
Authorship Contributions: Concept: Ö.O., Ş.T.; Design: Ö.O.; Data
Collection or Processing: Ö.O.; Analysis or Interpretation: Ö.O., Ş.T.;
Literature Search: Ö.O.; Writing: Ö.O., Ş.T.
Financial Disclosure: The authors declared that this study re-
ceived no nancial support.
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Entropy can be defined as the antithesis of well-formed true reports that agree with each other and with the material facts accessible through the experience of one or more competent observers. The abstract convergence (strictly formal, logical agreement) of true narrative representations (TNRs)—ordinary valid reports of facts of experience—makes them formally more complete than fictions, errors, lies, and nonsense. A limit of absolute entropy is theoretically reached if all resemblance to a TNR is lost. As argued here, TNRs—formally defined along the lines of Peirce's exact logic—provide the necessary foundation for functional human languages and for biosemiotic systems. The theoretical concepts of pragmatic mapping—the fitting of a TNR to whatever facts it represents—and the constructive cycle of abstraction that enables a child to discover the systems underlying such mappings are introduced and illustrated from child development and then shown to apply to the human neuroarchitecture, genetics, fetal development, and our immune systems. It is also argued that biological disorders and disease conditions logically must involve corrupted (damaged, undeveloped, or otherwise incomplete) representations at one or many levels.
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