Jurnal Reading

Language development and disorders:

Possible genes and environment
interactions

PUTRI SARI DEWI

140611036

Pembimbing :

Dr. dr. Indra Zachreini, Sp.THT-KL(K),FISCM

BAGIAN/ SMF ILMU THT

FAKULTAS KEDOKTERAN UNIVERSITAS MALIKUSSALEH
RUMAH SAKIT UMUM CUT MEUTIA
ACEH UTARA
2020
 ABSTRACT
Language development requires both basic cognitive mechanisms for
learning language and a rich social context from which learning takes o ff.

Disruptions in learning mechanisms, processing abilities, and/or social

interactions increase the risks associated with social exclusion or developmental
delays. Given the complexity of language processes, a multilevel approach is
proposed where both cognitive mechanisms, genetic and environmental factors
need to be probed together with their possible interactions .

Here we review and discuss such interplay between environment and genetic
predispositions in understanding language disorders, with a particular focus on a
possible endophenotype, the ability for statistical sequential learning.
1. Language development
and disorders

In the first years of

life, children typically
develop a set of developing
highly complex children need
skills that together at least four to
allow them to five years to
comprehend acquire a
speakers around basic fluent
them and control of
communicate language
actively with them.
Understanding
the typical
adaptive paths
to language
acquisition When the learning process is
becomes even disrupted, language outcomes can be
more important affected or even impaired.
when
examining the
effects of
language
disorders
 Disorder Affected genes Common Language abilities Intellige
comorbidity nce

ASD
Developmental verbal FOXP1 Articulation difficulties in producing Normal non-
consonants and vowels verbal

Dyspraxia IQ

FOXP2
Epilepsy Overuse of one sound

16p11.2 in Chromosome 16, found

Traumatic Brain Inappropriate prosody affecting stress,
in 16p11.2 microdeletion
Injury intonation and phrase

disorder
boundaries

GALT in Galactosemia Inappropriate lengthening

Specific Language CNTNAP2 ASD Articulation difficulties, e.g. simplified Normal non-

speech with reduced verbal

Impairment consonant clusters IQ

CMIP and ATP2C2 Omission of grammar features, e.g.

Disorder Affected genes Language ability Common Intelligence
comorbidity

Down Syndrome Extra copy on Weak expressive language, morpho- Highly social, Mild-to-
chromosome 21 syntactic processing, and verbal engaging and moderate

working memory, Delayed language and affectionate intellectual

speech development disability

Williams Syndrome Deletion of CLIP2, Intact Hypersocial Reduced Mild-to-

ELN,GTF2I, visuospatial moderate

GTF2IRD1,LIMK1 on cognition intellectual

Chromosome 7 disability

Prader-Willis Chromosome 15 deletion Language development delayed and Difficulties Mild-to-

Syndrome 15q11-13 on impaired Articulation problems recognizing facial moderate

paternal side expressions of intellectual

emotion and social disability

intent

Chromosome 15 deletion
Angelman Syndrome Almost non-verbal Severe impairment of Overly social usually Mild-to-
In the study of the genetic bases of language disorders, it is reasonable to first
assume that different phenotypes have different genetic bases

However, classification of disorders based on phenotypic distinctions may in

some cases obscure common underlying cognitive mechanisms, and their genetic
bases. Furthermore, the genetics of language has so far been mainly studied
without considering gene×environment interactions (G×E).

These occur when the effect of the

environmental exposure on a certain
outcome is strongly influenced or
contingent upon genotype and vice
versa
Given the above considerations, the present review takes into account basic
cognitive, genetic and environmental factors, and suggests some new specific
ways in which they may dynamically interact to influence atypical language
development

The review unfolds in four main

sections and a conclusion.

The first section

considers recently
proposed
underlying
mechanisms of
language
acquisition,astheya
reknownunderthet
ermsstatistical/seq
uential/procedural/
implicit learning
 The third section
documents the role of
environmental
experiences in triggering
adaptive language
development – in
The second section particular the language
reviews candidate genes The fourth section
input and communication
associated with language provides a selection of
interactions between child
abilities and disabilities, possible
and caregiver, with a
taking into account their gene×environment
focus on how caregivers
underlying genetic interactions.
can mediate the quantity
mechanisms. and quality of linguistic
statistical patterns
presented to the child in
their input
2. What the child brings to child language I: sequential
learning abilities

SEQUENTIAL LEARNING in LANGUAGE

development

Cognitive mechanisms of sequential

learning have been proposed to be at
the basis of the discovery of
language. They all entail the
detection of patterns in the
environment at progressively higher-
order levels of linguistic
sophistication – from phonetic–
phonemic, to lexical and
phrasal/sentential – as well as the
ability to abstract and generalize
over such patterns
 Having been
The role of As young as four
exposure to exposed to
months, infants
language begins speech in the
then become able to
in utero, when the womb, newborns
discriminate speech
peripheral can already
auditory system sounds vs non-
distinguish
matures and the speech sound. At
speech sounds of
fetus has access to about six months of
their own mother
her first linguistic age, infants can
tongue from
inputs as early as discriminate
26 weeks of others belonging
virtually all
gestation to a different
phonetic contrasts
language
in natural languages
 Running speech rarely
contains words in
Thischange isolation. And word
At the same time, by the inthedeclineofprecisioni boundaries are not
first year of life, infants’ nspeechperception is
ability to universally
marked by clear pause.
believed to be an earlier Analyses of databases
distinguish phonetic units
form of brain of child-directed speech
such as /p/ versus /b/
gradually narrows to the
specialization mediated suggest that young
language(s) that they are by the environment and infants rely on
systematically exposed to – indicates that infants distributional cues in
a process termed perceptual tune into the input their caretakers’ speech
narrowing properties specific of to determine the
their language category of a certain
word
Sequential learning in language disorder

Studies of clinical
populations can provide
Thus, the studies
further insights on the Furthermore, if these conducted so far on
relation between populations were found sequential learning and
statistical sequential to have either language language disorders
learning and language or statistical ability suggest that not only does
development. One intact while the other the reduced statistical
direction is to obtain skill impaired, one learning correlate with
within-subject could draw the language delays, but
correlations between implication that the typical statistical learning
language deficits and specific language is found in disorders
impaired sequential deficits rely on other exhibiting no substantial
learning in populations cognitive abilities. language deficits.
with known language
disorders..
 3. What the child brings to child language II:
genetic bases of language

Here, focus on those

As a higher-order endophenotypes
cognitive process associated with
language recruits sequential learning, as
lower order processes well as social
such as sequential communication
learning, working abilities that might
memory, and the impair the ability to
ability to socially extract statistical
communicate information from
child-directed speech.
Genes for sequential learning

DRD2/ANKK
FOXP2 DRD2
1

CNTNAP2 DYX1C1

ROBO1 KIAA0319
Genes AND
SOCIAL
COMMUNICATIO
N

in investigating how genetic predispositions are associated

with language disorders, genes involved in the regulation
of the acquisition of social abilities are likely candidates
for language delays and disorders.
Onthestructurallevel,Uddénandcolleagues(2017)foundt
hatindividualscarrying at least one copy of the T allele
in the rs7794745 region of the CNTNAP2 gene show
reduced gray matter in the left superior occipital
gyrus, an association area, compared to AA
homozygotes

this reduction increases with the number of T alleles.

Mutations in the ROBO2 gene are also associated with
Autism Spectrum Disorders.
 The indirect link between the role played by
ROBO2 in language acquisition through the
mediation of social communication has been
directly highlighted in a study by St
Pourcain et al. (2014), who found an
association between ROBO2 genotype and
the development of expressive vocabulary in
human infants
Further directions

Mutations in the SRPX2

Interestingly, these genes
gene, which is regulated
variants classified as are involved in
by FOXP2 activity and is
pathogenic in the genes regulatory pathways –
involved in
CHD3, SETD1A, coding for proteins
synaptogenesis,
WDR5, KAT6A, recruited in processes
specifically in the
SETBP1, TNRC6B, and such as chromatin
formation of excitatory
ZFHX4 in some remodeling and DNA
synapses, have been
individuals affected by methylation – and
related to the presence of
Childhood Apraxia of interact with FOXP2 in
rolandic seizures with
Speech (CSA) regulating gene
associated oral and
expression
speech dyspraxia

Further studies will be necessary to unveil the specific role of these

genes in the development of brain language centers, sequential
learning and language-related motor programming.
4. What the environment brings to child language:
caregiver communication

This way of Unfavorable linguistic

communicating is environments can reduce
several lines of research
referred to in the the potential for
have provided mounting
literature as “motherese”, language, A landmark
evidence that caregiver
“parentese”, child- study found that reduced
speech plays a
directed speech (CDS), exposure to language
fundamental role
or infant-directed speech provided by parents
language development
(IDS) (for a systematic dramatically affected
review children's language
development
 The seminal finding of
Hart and Risley
included a small
In particular, by
sample size, but has
the age of four,
been corroborated by
30 million fewer
a number of
words would have
independent studies,
been heard by a
and it is now well
child from a poor
established that
home, compared
children from low
with children
socio-economic status
whose parents are
(SES) backgrounds are
professionals
more likely to
experience language
delays than their high-
SES peers
 In one study (Hoff & Naigles,
2002) the number of different
In addition to the quantity of words, the mean length of
language input, content and utterance, as well as the
quality of language input also syntactic complexity of
affect child language maternal speech predicted
development productive vocabulary in
typically developing 2-year-
olds

Maternal mean length of

utterance (MLU) was predictive
A significant relation between of language development for
maternal speech input and variation preschoolers with Language
in child language development has Impairments, confirming the
also been found in atypical importance of maternal
populations. language complexity for
explaining variation in child
language development in 4- to
5-year olds
5. Gene ×
environment

the developmental path of both physiological

processes and bio- logical structures is also
affected by individuals’ own experiences and
environmental conditions.
 More in general, an individual's phenotype,
physiological processes and behaviors are
the result of a dynamic interplay between
genes and environment, which can occur in
the following ways:

Genes can affect phenotype,

the environment can affect
endophenotypes and exposure
to environmental factors genetic expression

genetic predispositions and

environmental factors can
moderate each other's effects.

Next we consider these three

cases in relation to language.
 
 Genetic effects on
phenotype AN environment

In the case of the FOXP2

gene in the CS patient and
KE family (Lai et al., 2001),
Genetic characteristics may genetic malfunctioning is The deficit in the
play a leading role by directly related to a phonological loop may, in
affecting individuals’ phenotype with impairments turn, limit individuals’
phenotype or in the language processes. exposure to environmental
endophenotypes directly, or Genetic malfunctioning may factors necessary for an
by moderating also influence language adaptive language
environmental factors processes indirectly by development
disrupting one or more of its
endophenotypes
Environmental effects on
genetic expression

The bioecological model is

Accordingly to the model
part of a series of processes
recently proposed by Mabel
that fall under the term
Rice, this and other en-
epigenetics: environmental
vironmental factors, such as
conditions do not change
maternal diet during
genes, but can operate on a
pregnancy might cause a
continuum from triggering
growth signaling
their expression to shutting it
dysfunction (GSD)
down. One definition of
affecting the expression
epigenetics is ‘modifications
of pivotal regulatory
of DNA or associated proteins,
genes such as FOXP2
other than DNA sequence
and CNTNAP2 and, in
variation, that carry
turn, the emergence of
information content during
SLI deficits
cell division’
 TWO-WAY
INTERACTIONS
Between genes AND
environment
 

the diathesis-stress
the plasticity genes model
model

For example, we could hypothesize In this model genes may be

that poor parental linguistic
scaffolding coupled with risk
phenotypes, such as being
homozygotes for the A allele in the
region rs7794745 of the CNTNAP2
gene, might increase the probability
of a language development delay.
AA homozygotes in that CNTNAP2
region are worse at detecting and
acquiring grammatical sequences,
and exhibit weaker activity in
Broca's area compared to T carriers
in the same region
either favorable or
disadvantageous as a function
of specific environmental factors,
rather than constituting absolute
risk or protective factors. That is,
a specific allele is not a protective
or risk factor per se. It rather
enhances individuals’ sensitivity
to environmental factors
becoming either an advantage or
a disadvantage according to the
environmental conditions the
individual faces during
development
 6.
Conclusion
s

• in recent years
advances in genetic
studies have shifted the
theoretical debate to
Language development perspectives where In this review we have
requires both basic genetic and considered three possible
cognitive mechanisms for environmental factors ways that gene ×
learning language and a play both direct and environment interactions
rich social context from indirect roles in could play out: (i) genes
which learning takes off language acquisition moderate environment
• The relationship exposure; (ii) the
between genes and the environment influences
environment in genetic expression; (iii)
determining the genetic and environmental
etiology of language factors moderate each
disorders is largely other's effects on
unknown individuals’ development
Languagedisordersandtypicall
anguagedevelopmentmaywell
constitutetwooutcomesattheo
pposite ends of a spectrum
involving similar processes.
The determination of a
specific outcome will
ultimately depend on our
better understanding of the
complex interplay between
genes and environmen
TERIMAKASIH