President of MSSA Prof. Dr. Vladimir Trajkovski prsented the his topic: "Association between cerebral palsy and autism spectrum disorders" at 8th interdisciplinary congress: "Cerebral palsy and other movement disorders" on 1-2 of November 2018 in Moscow, Russia.
Prof. Dr. Vladimir Trajkovski: Cerebral palsy and autism
1. 1
ASSOCIATION BETWEEN
CEREBRAL PALSY AND AUTISM
SPECTRUM DISORDERS
Prof. Dr. med. Vladimir Trajkovski
Moscow, November 1st 2018
University “St. Cyril and Methodius”
Faculty of Philosophy
Institute of Special Education and Rehabilitation
Macedonian Scientific Society for Autism
2. 2
Introduction (1)
Clinical heterogeneity among children with
neurodevelopmental disorders reflects diversity in
strengths and needs that can have important
implications for therapeutic management.
Autism Spectrum Disorder (ASD) is sometimes a co-
occurring associated condition of cerebral palsy.
Whereas cerebral palsy affects motor functioning,
autism affects certain areas of brain development.
Cerebral palsy (CP) is primarily a motor disorder,
caused by a cerebral lesion occurring in the
developing brain.
4. 4
Introduction (2)
Studies have shown that ASD is more common in CP
than in the general population. Estimates place the
prevalence between 8 and 15 %.
(Christensen et al., 2014 ; Kilincaslan & Mukaddes, 2009 ; Kirby et
al., 2011).
Despite the increased prevalence of ASD in CP, the
diagnosis of ASD is often delayed with the median age
of diagnosis being 66 months which is above the
median age of diagnosis for ASD alone (61 months).
(Wiggins, Baio, & Rice, 2006 ).
This delay is attributed to multiple factors but may in
large part be due to the fact that the core symptoms of
ASD are often misinterpreted as clinical features of CP.
(Smile et al., 2013).
5. 5
Introduction (3)
Clinical heterogeneity among children with
neurodevelopmental disorders reflects diversity in
strengths and needs that can have important
implications for therapeutic management.
Until recently, research into comorbidities contributing
to such diversity has tended to reflect the clinical divide
between neuromotor and developmental-behavioral
disciplines.
Over the past 10 to 15 years there has been greater
recognition that risk of mental health and
neurobehavioral disorders is shared across the broad
continuum of developmental medicine, including
cerebral palsy.
6. 6
Introduction (4)
Recognizing that functional impairments associated
with CP often extend well beyond the motor system,
Christensen et al. report rates of ASD in this patient
population, from a US-based surveillance system (the
‘Autism and Developmental Disabilities Monitoring
Network’).
This study is particularly timely as rates of ASD are
reported to be increasing in the general population
although there is little evidence that ASD rates are
specifically increasing among children with CP.
They reported rate of 6.9%.
7. 7
CP and Associated Disabilities
CP may be associated with a spectrum of
developmental disabilities, including
Intellectual disability
Autism Spectrum Disorders
Seizure disorder
Visual impairment
Hearing impairment
Speech impairment
Cognitive dysfunction
Behavioural problems
ADHD.
8. 8
Purpose
To explore autism spectrum symptoms in
children with cerebral palsy, and the
association between autism spectrum
symptoms and medical co-morbidity.
9. 9
Similarities between autism and
cerebral palsy
They are both discovered at roughly the same age, usually.
Cerebral palsy is usually discovered a little earlier, at perhaps 6
months to 2 years of age.
Autism is discovered a little later, usually by 5 years of age.
Both conditions are highly variable, with some symptoms present
in some children but not others.
Both conditions can be very severe or hardly noticeable.
To oversimplify: If someone is in a wheelchair or on crutches,
they more likely have cerebral palsy.
If someone cannot speak but has no movement problems, they
more likely have autism.
Keep in mind, many people with cerebral palsy do not need
crutches, and many people with autism can talk. These are just
the classic presentations of more severe cases of each disorder.
10. 10
Differences between cerebral palsy
and autism (1)
In many cases, the cause of cerebral palsy is known.
In contrast, the cause of autism is currently unknown to
science.
The most common causes of cerebral palsy are infection
during pregnancy, oxygen deprivation or trauma during birth,
and head trauma very early in life. Genetic causes play as
small (but nonzero) role in cerebral palsy.
The causes of autism remain largely unknown. We know
that genetics are strongly linked to autism. In fact, genes
play a much larger role in autism than cerebral palsy.
About one third of people with cerebral palsy have epilepsy
(recurrent seizures), but this is not so common in autism.
11. 11
Differences between cerebral palsy
and autism (2)
Cerebral palsy is primarily a movement disorder, causing
stiff muscles, weak muscles, poor coordination, and other
movement problems.
This can inhibit speaking, but the impact on speech is
indirect and mediated by lack of control over breathing,
vocal cords, and mouth muscles. Cerebral palsy can also
affect vision and hearing and, less often, cognition.
Autism is primarily a cognitive disorder.
People with autism often have no ability to speech or a
severe problem with speech, but this is caused by problems
understanding and producing language, and it is not due to
muscle problems.
Autism is often associated with some degree of clumsiness,
but it is not a movement disorder (unlike cerebral palsy).
Autism has a generally larger effect on moods and behavior.
12. 12
Etiology of the disorders (1)
Is possible potential shared causative mechanisms between
the two disorders?
It is increasingly clear that there are multiple etiological
pathways to ASD.
Scherer et al. reported that whole genome sequencing could
increase the etiological yield of genetic testing to as high as
50% in children with ASD, albeit with many different de novo
and rare inherited variants identified.
Cerebral palsy is also characterized by both clinical and
etiological heterogeneity. Specific genetic variants that have
an impact on both motor and social-communication (and/or
general intellectual development) may contribute to shared
liability to the two disorders.
However, there are already clear examples of factors that
are not primarily genetic (e.g. preterm birth) that increase
the risk of both disorders.
13. 13
Etiology of the disorders (2)
There is likely to be a myriad of factors underlying the
co-occurrence of ASD and CP.
The relative contribution of genetically influenced
developmental versus injury-related processes in the
co-occurrence of ASD and CP remains an interesting
question for future work.
Another question is, do ASD and CP co-occur across
the clinical continuum of each disorder, or mainly in
association with intellectual disability?
This issue should also be addressed in future research,
perhaps through further stratification of population
samples.
14. 14
Epidemiology
In a population-based study, Nordin and Gillberg reported
that 4 of 38 children with CP also had ASD.
In a clinical series of 126 children with CP, Kilincaslan and
Mukaddes found an ASD prevalence of 15% (95% CI 8.7–
21.4%).
Previous records-based studies have reported ASD
frequencies ranging from 5% to 8%. It is not surprising that
records-based studies, which depend on the documentation
of ASD diagnoses or descriptions of behaviors consistent
with ASD, find a lower frequency of co-occurring ASD
compared with studies that performed systematic ASD
screening and diagnosis.
Christensen et al found 71% of children with CP and co-
occurring ASD had a previous ASD classification or
diagnosis by a community professional in their records,
similar to the percentage for children with ASD who did not
have CP.
15. 15
Clinical implications (1)
1. While ASD screening and diagnostic tools have
been extensively evaluated in the pediatric population,
further validation in special populations such as
children with CP is needed, particularly in the presence
of features (e.g. sensory impairments, motor deficits
limiting use of gestures such as pointing) that may
complicate differential diagnosis.
2. Recent studies have indicated a roughly 3 to 4-fold
increase in a range of emotional and behavioral
disorders (including attention-deficit–hyperactivity
disorder, depression, anxiety etc.) among children with
CP compared to similar-aged peers.
16. 16
Clinical implications (2)
Given that recent population prevalence estimates of
ASD are as high as 2%, the relative elevation in ASD
rates in children with CP appears to be in line with
other emotional-behavioral comorbidities.
This argues for a more general emphasis on mental
health in clinical follow-up of school-aged children with
CP rather than an exclusive focus on specific
diagnoses such as ASD.
Assessment of early social-communication and play
behaviors serves not only to identify the risk of ASD,
but also to open dialogue and service planning aimed
at optimizing function in these domains.
17. 17
Clinical assessment of ASD symptomatology
in a child with CP (1)
The current best practice for diagnosing ASD in a child
with CP is completing a thorough clinical assessment
and combining this with the clinician’s judgement.
The assessment of ASD in the face of CP should entail
a detailed history, examination and structured
observation of the child’s social and communication
skills, complemented with standardized diagnostic
instruments which are validated for children with motor
difficulties.
Diagnostic instruments used to identify a diagnosis of
ASD in the presence of significant motor impairments
must be interpreted with caution.
18. 18
Clinical assessment of ASD symptomatology
in a child with CP (2)
The clinical manifestation of CP usually occurs in early
childhood and a diagnosis is usually apparent by 2–3 years
of age.
There is much heterogeneity in the clinical presentation of
ASD.
The core features of ASD manifests in early childhood;
however, cases where the severity of symptomatology is
milder may not demonstrate impairments until later; during
the school age years.
It is proposed a stepwise approach in evaluating a child who
presents with CP and impairments in social and
communication domain suggestive of ASD.
It is proposed a five-step approach in the assessment of
such a child.
19. 19
Step 1: History and Examination
The first step of assessment includes a detailed developmental
and behavioral history. Key points for each section of the history
that should raise the clinician’s index of suspicion regarding an
possible diagnosis of ASD.
Maternal History
Family History
Developmental History
Early Developmental History
Communication Skills
Social Skills
Play Skills
Behavioral History
Motor stereotypies
Sensory Presentation
Medical History
20. 20
Step 2: Observation/Informal
Assessment
Important information can be derived from observing a
child in a relaxed environment such as a playroom or a
waiting room setting that has access to toys and/or other
children.
During History Taking
Informal Interaction
Examination
• There is no discriminatory finding to suggest an ASD
diagnosis on physical examination.
• In CP, there will be evidence of motor compromise. The
presence of head lag in a child less than 1 year of age
may be present in both disorders and is developmentally
normal in a child less than 3 months of age.
21. 21
Step 3: Screening
If the clinician suspects ASD, using screening instruments to
complement the clinician’s history and observation would be
the next step of evaluation.
Using the M-CHAT, STAT or the BISCUIT Part 1, in that
order is may add additional information to decipher between
the two disorders.
The STAT instrument is useful as this is a play based
instrument. This will give the clinician “real time” information
regarding the child’s social communication skills.
The BISCUIT-Part 1 is the only instrument that has been
tested in children with CP + ASD, with some utility.
It is important to review the individual items that the child
scored positively on to identify if their motor impairment
could have impacted on the results.
22. 22
Step 4: Diagnostic Testing
The 4th tier of evaluation is administration of diagnostic instruments.
This should be executed by a trained clinician, to discriminate
between typical behaviors and ASD specific behaviors.
This can be a difficult task and relies on the clinician’s judgement.
The use of the ADOS-2 diagnostic test is the recommended
instrument to differentiate between and ASD and non-ASD profile.
It is imperative that the clinician is aware of its limitations in children
with motor involvement and who are functioning at a GMFCS level
of III to V. Additionally the ADOS-2 diagnostic test, discriminatory
properties are altered in children with a cognitive level functioning
less than 18 month age.
Using a standardized interview instrument such as the ADI-R may
be indicated and useful in capturing a detailed picture of the child’s
social communication profile.
23. 23
Step 5: Putting the Pieces Together
Combining information from the history, observation,
and diagnostic assessments the clinician will now form
an overall clinical impression.
The clinician will identify core areas of impairment and
its impact on the child’s overall level of functioning.
The presence of significant impairment in social
communication domain and atypical behaviors which
impact on the child’s level of functioning is suggestive
of an ASD profile.
Discussion regarding appropriate intervention targeting
the core areas of deficit should be initiated.
24. 24
Goal of treatment
Optimize mobility
Manage primary conditions
Control pain
Prevent and manage complications, and
associated conditions
Maximize independence
Enhance social and peer interactions
Foster self-care
Maximize communication
Maximize learning potential
Enhance quality-of-life
25. 25
Treatment
A multidisciplinary team provide important
contributions to the treatment of children with
CP and ASD. These include:
Physicians from various specialties
Occupational and physical therapists
Speech therapists
Social workers/counsellors
Special educators
Developmental and clinical psychologists
Counselling is very important as soon as the
diagnosis is made.
Family support is crucial.
26. 26
Conclusion
There is clinical evidence which acknowledges the coexistence of
CP and ASD.
Cerebral palsy and ASD may have many faces and could be
confused with different clinical conditions.
The ultimate goal of identification is to minimize impairment
through introduction of appropriate interventions.
For children with CP and ASD to achieve their maximum potential
and have an independent good quality life, we need to have
appropriate diagnosis, early identification, and early intervention.
We all are stakeholders in their care and we have to be advocates
for the needs of children with CP with ASD and their families.
It is recommended that the child with CP, social and
communication developmental trajectory be monitored closely
over time. This leads to earlier identification of disorders such as
ASD which are responsive to early intervention.