Intellectualdisabilityand Languagedisorder: Natasha Marrus,, Lacey Hall
Intellectualdisabilityand Languagedisorder: Natasha Marrus,, Lacey Hall
Intellectualdisabilityand Languagedisorder: Natasha Marrus,, Lacey Hall
La nguage D i s o rd er
a, b
Natasha Marrus, MD, PhD *, Lacey Hall, MS
KEYWORDS
Intellectual disability Global developmental delay Language disorder
Early intervention Multidisciplinary care
KEY POINTS
Intellectual disability (ID) and language disorders are neurodevelopmental conditions
arising in early childhood.
Child psychiatrists are likely to encounter children with ID and language disorders
because both are strongly associated with challenging behaviors and mental disorders.
Because early intervention is associated with optimal outcomes in ID and language disor-
ders, child psychiatrists must be aware of their signs and symptoms, particularly as
related to delays in cognitive and adaptive function.
Optimal management of both ID and language disorders requires a multidisciplinary,
team-based, and family centered approach. Child psychiatrists play an important role
on this team, given their expertise with contextualizing and treating challenging
behaviors.
INTRODUCTION
a
Department of Psychiatry, Division of Child and Adolescent Psychiatry, Washington University
in St Louis, 660 South Euclid Avenue, Box 8504, St Louis, MO 63110, USA; b Department of Psy-
chology, St. Jude Children’s Research Hospital, 262 Danny Thomas Place, Memphis, TN
38105, USA
* Corresponding author.
E-mail address: Natasha@wustl.edu
INTELLECTUAL DISABILITY
Fig. 1. Causes of ID and their respective percentages4 are shown, together with a list of
currently recommended genetic testing. Several non-genetic factors also lead to ID,
including congenital infections, exposures to teratogens or toxins, prematurity, hypoxia,
trauma, intracranial hemorrhage, central nervous system infection or malignancy, psychoso-
cial deprivation, malnutrition, or acquired hypothyroidism. CpG, cytosine-phosphate-gua-
nine; GAA, guanidinoacetate; MECP2, methyl-CpG binding protein 2. (Information from
Moeschler JB, Shevell M. Comprehensive evaluation of the child with intellectual disability
or global developmental delays. Pediatrics 2014;134(3):e903–18; and Pivalizza P, Lalani SR.
Intellectual disability in children: evaluation for a cause. UpToDate: Waltham (MA); 2016.)
Intellectual Disability and Language Disorder 541
Evaluation
A comprehensive history entails a birth/prenatal history; family history; 3-generation
pedigree; and information on the course and timing of delays in language, motor,
social-emotional, and adaptive functioning.7 Children with ID may have a history of de-
lays in talking, sitting up, crawling, or walking; immature play and social interaction;
and poor comprehension, learning, and problem solving. Screening tools, such as
the Ages and Stages Questionnaire,8 can usefully clarify the extent of these concerns
(see Ref.9 for other examples). Frequent neurologic comorbidities, such as seizures
and motor signs (eg, spasticity, ataxia, hypotonia), as well as developmental regres-
sion, should be assessed. Physical examination includes a complete neurologic ex-
amination, measurement of head circumference, and attention to features
associated with genetic syndromes, such as facial dysmorphisms and skin findings.3
A comprehensive evaluation of intellectual and adaptive functioning through neuro-
psychological testing is ultimately necessary for diagnosis.
Medical work-up includes testing for genetic syndromes, metabolic disorders, ac-
quired hypothyroidism, and lead exposure.3 When a genetic syndrome or metabolic
disorder is suspected, referral to a geneticist is recommended to ensure the most
comprehensive testing. A neurology referral is recommended for any neurologic con-
cerns. Brain MRI is advised if microcephaly, macrocephaly, seizures, or neurologic
signs are present.7,10 Children with ID are more likely to have other medical conditions,
including cataracts, vision and hearing impairments, congenital heart disease, consti-
pation, obesity, and sleep disorders, which may prompt additional referrals. Such
comorbidities not only affect overall function and quality of life but can also increase
challenging behaviors.
Differential Diagnosis
The differential diagnosis for ID includes other neurodevelopmental disorders, which
can also be comorbid with ID:
Autism spectrum disorder (ASD), which has a similar prevalence to ID, and is
characterized by impaired social communication, restricted interests, and repet-
itive behaviors. At least 25% of children with ASD have ID.11
Language disorders, like ID, feature language delays. The occurrence of lan-
guage delay should prompt investigation of other delays, so that ID is not
overlooked.
Epilepsy may manifest with delays and regression in core developmental do-
mains, such as language. Behaviors suggestive of epilepsy include staring spells,
shaking spells, and intermittent changes in levels of consciousness with associ-
ated automatisms (eg, blinking, lip smacking).
These potential diagnostic confounds highlight the importance of comprehensive
evaluations and neuropsychological testing.
542 Marrus & Hall
Table 1
Medications for intellectual disability
Abbreviations: AIMS, Abnormal Involuntary Movement Scale; CBC, complete blood count; HbA1c,
hemoglobin A1c; SSRI, selective serotonin reuptake inhibitor.
Data from Handen BL, Gilchrist R. Practitioner review: psychopharmacology in children and ad-
olescents with mental retardation. J Child Psychol Psychiatry 2006;47(9):871–82.
Intellectual Disability and Language Disorder 543
given their effectiveness and more frequent medication side effects in younger chil-
dren. Nevertheless, when safety or ability to engage in therapy are concerns, medica-
tion may be instrumental for successful implementation of a treatment plan and
reducing caregiver stress. Medication is also an element of combined therapy (medi-
cation plus behavioral management), and psychiatrists can guide the appropriate bal-
ance of behavior and medication. Low starting doses are recommended, with slow
titration, along with systematic evaluation of both positive and negative effects in
the context of the entire treatment plan.
Among behavioral treatments, applied behavioral analysis (ABA) has a well-
established evidence base.17 ABA attempts to modify antecedents and/or conse-
quences of specific behaviors, either to discourage a problematic behavior or
encourage an alternative behavior. Functional behavioral analyses provide detailed
measurement of potential instigators of challenging behavior, such as need for atten-
tion or help, escape from demands, attempt to get what is wanted, protest, or self-
stimulation.13 Behavioral planning is then tailored to the child’s behavioral profile
and developmental level. In addition to ABA, parent-training approaches (eg, Stepping
Stones Triple P18 and Parent-Child Interaction Therapy19) show evidence for
improving disruptive behaviors in ID.
LANGUAGE DISORDERS
Fig. 2. Language disorders affect 1 or more fundamental aspects of language: form, con-
tent, and function. Deficits may involve morphology (understanding and use of the building
blocks of words), syntax (grammar), and semantics (vocabulary). Phonology, the ability to
distinguish and use speech sounds appropriately, is affected in speech sound disorder. Dis-
orders of pragmatics, the use of language, are encompassed within social communication
(pragmatic) disorder.
Early language difficulties are a risk factor for impaired literacy skills, memory skills,
and nonverbal abilities,24,25 although individual patterns of strengths and weaknesses
in distinct aspects of language may vary over time. In some cases, so-called illusory
recovery occurs,26 whereby a child’s language seems to normalize, but deficits return
with subsequent increases in demands. In addition, rates of language growth may
plateau by early adolescence, increasing the gap between children with and without
language disorders.27 Receptive language impairments have worse prognoses than
expressive language impairments. Deficits of comprehension are less responsive to
therapy and do not resolve spontaneously; they are linked to increased likelihood of
social difficulties,28 struggles with nonverbal reasoning,29 and psychiatric
conditions.30
Evaluation
The history should review not only language development and milestones but also any
other delays, challenging behaviors, mood and anxiety, and trauma that could result in
developmental setbacks. In language disorders, progress is generally slow from the
outset, and regression is uncommon, unlike in ASD.40 Although speech delays
frequently co-occur, they are not a hallmark. Table 2 provides a description of typical
language milestones and clinically significant red flags. Impaired receptive and
expressive language commonly co-occur, and difficulties with comprehension, in
particular, are a red flag for chronic language difficulties.41 The mental status exami-
nation should note form, function, and use of language, including articulation, fluency,
and tone; comprehension; the frequency and complexity of verbal communication;
vocabulary; social reciprocity; and use and responsiveness to nonverbal communica-
tion, such as gestures, body language, and facial expression.
The utility of language screeners has been deemed inconclusive,42 although, in
cases of clinical suspicion, screeners can help index the level of concern. Two acces-
sible parent-report measures are the MacArthur Communicative Development Inven-
tory (M-CDI)43 and the Language Development Survey (LDS).31 The M-CDI features
Box 1
Indirect stimulation of language competence in young children
Responsiveness
Provide responses directly related to a child’s communication act or focus of attention.
Follow the child’s lead in play.
Discuss what the child is doing versus asking lots questions.
Language modeling
Imitate or expand the child’s actions or words.
Rephrase what the child says in grammatically correct form.
Provide examples of using gestures and other nonverbal cues.
Reinforcement of communication
Provide opportunities to communicate wants and choices rather than anticipate all the
child’s needs.
Allow adequate time to initiate communication and respond.
Praise communication attempts.
Data from Chapman R. Children’s language learning: an interactionist perspective. J Child Psychol Psychiatry 2000;41:33–54; and Miller J. Assessing language pro-
duction in children. Boston (MA): Allyn & Bacon; 1981.
Intellectual Disability and Language Disorder 547
long and short versions (requiring 20 and 5 minutes, respectively) for ages between 8
and 36 months. The LDS, which applies up to 42 months, is embedded in the Child
Behavior Checklist, which conveniently queries general behavioral concerns. It is
also worthwhile to screen for anomalous social development, given the association
of language delay and ASD. Two of the most common brief ASD screeners are the
Modified Checklist for Autism (M-CHAT), for ages 16 to 30 months,44 and the Social
Communication Questionnaire, for ages 4 years and older.45
Medical work-up first involves ruling out hearing conditions, and referral for an
audiological evaluation is an important initial step. An oral-motor evaluation should
be considered if there are phonological concerns, or the child has feeding diffi-
culties or drooling. For laboratory testing, a complete blood count may be consid-
ered to evaluate for anemia, which has been associated with developmental delay,
as well as lead testing.46 Genetic testing is not routine, because there are no com-
mon, strongly associated genetic markers of language disorders,47 but a genetics
referral is advised for features suggesting a genetic syndrome (discussed earlier). In
cases of regression or concern for seizures, rapid referral to a neurologist is
warranted.
Differential Diagnosis
Several conditions may present with communication difficulties in early childhood; in
some cases, these are comorbid with language disorders, so a speech/language
referral remains indicated:
Hearing impairment: as mentioned earlier, this possibility should be considered
early in the evaluation. For children with ID and impaired language, there is a
risk of reduced hearing over time, and hearing should therefore be monitored.
ID: language delays frequently occur in ID, although only a subset of individuals
ultimately show deficiencies consistent with a language disorder. Marked lan-
guage problems in individuals with ID should receive comprehensive evaluation
and treatment.
ASD: language delay and disorders are common in ASD, even when accounting
for pragmatic language issues, which are universal. Consideration of ASD is
important given the strong benefit of early intervention for ASD.
ADHD: inattention and impulsivity may detract from opportunities to learn and
practice language skills, particularly as related to pragmatics. Children with
ADHD also have higher rates of language disorders.
Selective mutism: in this condition, poor language output manifests in specific
environments; for example, at school but not at home. Selective mutism is
conceptualized as an anxiety disorder, although speech/language issues often
co-occur.
Management
Psychiatrists play an important role in managing psychiatric comorbidities, as well as
monitoring progress and coordinating care. In addition to making speech/language re-
ferrals, they can assist families in obtaining an evaluation for an IFSP or IEP and advo-
cate for further services or educational accommodations. Because psychiatrists are in
a position to correlate language function with psychiatric symptoms, they can provide
important contextual information about the relationship between a child’s language
function and associated behavioral concerns. This information may result in more
appropriately structured and targeted behavioral interventions and reduce misattribu-
tions of challenging behavior.62
Abbreviations: DD, developmental delay; DIR, Developmental Individual-difference Relationship; PECS, Picture Exchange Communication System.
Data from American Speech-Language-Hearing Association (n.d.). Spoken language disorders (practice portal). Available at: www.asha.org/Practice-Portal/
Clinical-Topics/Spoken-Language-Disorders/. Accessed October 1, 2016.
549
550 Marrus & Hall
SUMMARY
Common Aspects of Managing Intellectual Disability and Language Disorders
Management of ID and language disorders shares several overarching features and
principles. Because comprehensive assessments from other specialties are needed
for diagnosis, sound clinical judgment must be exercised regarding referrals and
following up on recommendations. The long-term impact and early emergence of
these conditions is especially challenging for families; sensitivity and clarity are thus
vital when delivering these diagnoses. Surveillance often occurs via a multidisciplinary
team of speech and language pathologists, behavioral therapists, occupational and
physical therapists, educators, social workers, and others. Maintaining clear commu-
nication and a strength-based perspective is important for implementation of thera-
pies that promote ongoing learning and gains in adaptive function. In addition, the
importance of culturally sensitive, family-centered care is increasingly emphasized.
By respectfully listening to families, psychiatrists can ensure that their preferences
and priorities contribute to treatment planning.
Future Directions
Although early childhood mental health and neurodevelopmental disorders are
increasingly recognized, concerns remain for delays in diagnosis.69,70 Development
of improved screeners and expanded training for child psychiatrists in neurodevelop-
mental disorders71 are worthwhile public health considerations to promote earlier
identification and management. Further research on evidence-based treatment is
also a priority, because extant literature frequently involves small samples or less
rigorous study designs. Translational research in genetics, as well as neuroscience,
will be important to elucidate mechanisms by which cognitive impairments interact
with risk for mental disorder, thereby improving diagnostic sensitivity, treatments,
and prevention.
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