Cerebral Palsy and Autism Spectrum Disorder


Domain

First year

Second year

Predictors of ASD

Social communication

Impaired social orientation/attention

Atypical eye contact

↓Orientation to name

↓Social smile

↓Imitation skills

↑Atypical expression of emotions

Impaired social referencing/social attention

Impaired imitation skills

speech delay

↓Acquisition of language

↓Use of gestures

↓Joint attention skills

unusual forms of communication: hand as a tool

↓Interests in peers

play—rigid and repetitive

↓Directed vocalization (12–14 m)

↓Babbling

↓Symbolic

gestures (12–14 m)

↓Communicative gestures (12–14 m)

↓Orientation to name (12–18 m)

↓Joint attention skills (15–18 m)

Behaviors

Presence of nonspecific repetitive behaviors: spinning, arm waving

Persistence of motor symptomatology

Nonfunctional repetitive play behavior

Atypical sensory orientation

Motor skills

Some evidence of delayed sitting and walking skills. Postural instability
 



Table 19.2
Possible differentiating factors for ASD and intellectual disability























Domains

Autism spectrum disorder (0–2 years)

Intellectual disability (0–2 years)

Autism spectrum disorder (3–5 years)

Social communication

Impaired social orientation

↓Eye contact

↓Orientation to name

↓Social smile

↓Gestures

↓Joint attention skills

speech delay with slowing of skills acquisition

Skills decline

Receptive language impairment > expressive language impairment

↓Orientation to name

↓ Eye contact but improving by age 2 years

↓Joint attention skills but improves

Speech delay but improvements noted

↓Initiation of social interactions

↓Eye contact to regulate social interactions

↓Verbal responses to peers

Fewer friendships created

↓Attention to voice

↓Pointing

Use of hand as a tool

Behaviors

Repetitive behaviors and insistence on sameness present in both but is more intense in frequency in ASD

Hand or motor mannerisms persist





Developmental Trajectories in Autism Spectrum Disorder


It is important to understand the developmental trajectories in children with ASD specifically in the following two domains; social communication domain and restricted and repetitive patterns of behaviors and interest domain may vary over time. This will help in understanding the clinical presentation of CP + ASD profile in early childhood as compared to the ASD only profile.

In children at risk for ASD, four developmental trajectories have been described. Firstly the “non-spectrum profile” which consists of children with an identifiable delay in development at 18 months of age who do not meet criteria for ASD by 36 months of age. Secondly, the “severe persistent profile” which consists of children with clear deficits in social affect and repetitive behaviors, which persists over time. Thirdly, “the worsening profile” which consists of children with increasing repetitive behaviors and social affect deficits over time. The fourth group are children who show clear improvement in social affect and significant improvement in verbal skills; “the improving profile” (Lord, Luyster, Guthrie, & Pickles, 2012). Evaluating the developmental trajectories of RRB and interests has also been explored. Using the Autism Diagnostic Interview-Revised (ADI-R), in children diagnosed with ASD their RSM scores remained high over time (2 years through to 9 years of age) indicating consistent severity. Whereas the IS scores started low and increased over time, indicating gradual worsening of these behaviors. A higher nonverbal IQ at age 2 years is associated with milder RSM (Richler et al., 2010). The variability in presentation of ASD in early childhood justifies and mandates close monitoring and repeated assessment to determine the stability of the diagnosis when given in the first 2 years of life.

CP is usually diagnosed within the first 2–3 years of life. Motor challenges are usually the initial presenting challenge; however, challenges in language and social skills may coexist. Consequently the presentation of CP has the ability to mask the initial presenting symptomatology of ASD. The clinician assessing the child often relies on clinical judgement and expertise in addition to assessment instruments to differentiate between the two disorders.


Screening and Diagnostic Instruments to Identify Autism Spectrum Disorder


The aim of screening instruments are to facilitate early diagnosis and initiation of appropriate interventions to target the core features of the particular disorder. Screening instruments have limitations; they may indicate when a child has not met an expected developmental milestone but cannot be definitive in its interpretation as there is much variability in “time to achieve” a skill. Results of a screening instrument are also dependent on the observer or caregiver completing the questionnaire which may vary in reliability over time. The results from a screening instrument represent a snapshot in a child’s development and symptoms may be inconsistent over time. If there are abnormalities found on a screening instrument this should prompt the clinician to complete a detailed developmental assessment. The American Academy of Paediatrics recommends screening for ASD at the 18 to 24 months age well baby visit (C. P. Johnson & Myers, 2007). In this section we briefly review screening instruments that are specific for identifying symptoms of ASD, focusing on early childhood. The psychometric properties of these screening tools has been documented extensively in other chapters of this book.


Checklist for Autism in Toddlers (CHAT)


The CHAT is the first screening instrument developed to identify ASD in toddlers (Baron-Cohen, Allen, & Gillberg, 1992). There are five items that are key indicators of ASD, inclusive of; gaze monitoring, pointing to request and pretend play. Low sensitivity, limits the CHAT as a primary instrument for identifying ASD in toddlerhood. This instrument was also tested on children with developmental delays but not with motor impairments. In the presence of a CP presentation especially with upper extremity involvement, critical items identified on the CHAT will be affected. This will negatively impact the specificity, sensitivity, and utility of this instrument.


Modified Checklist for Autism in Toddlers (M-CHAT)


The M-CHAT is a 23-item questionnaire which is a modified version of CHAT (Robins, Fein, Barton, & Green, 2001). There are six critical items which are key indicators of ASD, inclusive of; interest in other children, pointing to direct interests, showing objects, imitating, response to name and the ability to follow a point. This questionnaire has been used to identify children at risk of ASD in a population of very low birth weight infants who were born preterm (Limperopoulos et al., 2008). Of the 91 children in this study, 23 (25 %) had positive M-CHAT scores. However, only one of these children (who was 18 months of age at testing) was not climbing on objects or stairs, indicating motor delays. This finding suggests that children with social communication deficits as screened by the M-CHAT are unlikely to have coexisting motor impairments.

This is surprising as theoretically a child with CP especially with bilateral upper extremity involvement could score positive on this instrument regardless if ASD is present. This is because three of the five critical items requires coordinated motor function. Regardless of the cause, a positive result on this screening instrument should be followed by a detailed developmental assessment.


Screening Tool for Autism in Toddlers (STAT)


The STAT is a 20-min play based interaction between with a child who displays symptoms suggestive of ASD and another person (Stone, Coonrod, & Ousley, 2000). Attention is focused on the child’s ability to play, directs another persons’ attention and motor imitation. This instrument is aimed at screening toddlers between the ages of 14–36 months. These results are important, if validated in larger samples this tool can be used as early as 14 months as a screener for ASD. In the context of a child with CP, play and motor imitation function domains will be mostly impacted. However, evaluating the child’s ability to direct another person’s attention using vocalizations or eye contact might reveal information that may be useful in differentiating between the two disorders.


Social Communication Questionnaire (SCQ)


The SCQ is a 40-item questionnaire which uses questions from the more intensive Autism Diagnostic Interview-Revised (ADI-R) instrument (Rutter, Bailey, & Lord 2003). These questions evaluate the ASD symptomatology in the social, communication domain and the presence of restricted and repetitive behaviors. Psychometric properties of SCQ was only evaluated in psychiatric disorders, intellectual disability, and language delay. A recent study used the SCQ to screen for ASD in an extremely preterm population which included children with neuromotor impairments (Johnson et al., 2011). Using the established cut-off (scores ≥15), the SCQ had an 82 % sensitivity and 88 % specificity for identifying ASD in this population. However, it should be noted that the positive predictive value was relatively low with only 31 % of children with positive screens having received a diagnosis of ASD. Children with functional disabilities, including those with motor impairments, were more likely to screen positive on the SCQ. This may in part be due to parents rating SCQ items positive based on behaviors associated with other neurodevelopmental sequelae. In addition, parents of children with physical and neurosensory impairments were less likely to complete all of the items on the SCQ. This may be due to the fact that some SCQ items are not applicable or are difficult to answer when isolating autistic features from other neurodevelopmental sequelae.


Social Responsiveness Scale-2 (SRS-2)


The SRS-2 is a 65 item questionnaire which evaluates ASD symptomatology in the social, communication domain and the presence of restricted and repetitive behaviors (Constantino & Gruber, 2012). There are five treatment subscales: Social Awareness; Social Cognition; Social Communication; Social Motivation; and Restricted Interests and Repetitive Behavior. The Social Communication and Behavioral subscales map unto the DSM 5 diagnostic symptom criteria for ASD. This instrument is sensitive to identify behavioral difficulties among children. There is limited specificity in discriminating oppositional type behaviors and ASD. Higher total scores indicate greater severity of social impairment. This is a good instrument to monitor change in severity of ASD symptomatology over time.

Interestingly both the CHAT and M-CHAT identifies the absence of pointing as a significant indicator for ASD. In the face of CP these instruments may be limited in their utility as a discriminator of ASD. The STAT instrument has a strong motoric component (pointing, motoric imitation) thus the clinician must be cautious in interpretation of the results in the face of CP. We have to recognize that a child with upper extremity involvement may not be able to point or show an object to another or may do so in an atypical manner. These instruments do not rely on the presence of language comprehension or speech. The CHAT, M-CHAT, and STAT instrument have not been validated in toddlers with a motor impairment, thus extrapolating its psychometric properties to the CP population should be done with caution.


Baby and Infant Screen for Children with aUtIsm Traits-Part 1


When reviewing the CP ASD literature there is one screening instrument that has been mentioned frequently, the Baby and Infant Screen for Children with aUtIsm Traits-Part 1 (BISCUIT-Part 1) (Matson, Wilkins, Sevin, Knight, Boisjoli, & Sharp 2009). This instrument was developed using a sample of 276 children including children who were neurotypical or had a diagnosis of a neurodevelopmental disorder including neuromotor disorders such as CP. This instrument is the only instrument to date that has been tested on children with neuromotor disorders. However, given the new DSM 5 diagnostic classification of ASD and the removal of the PDD-NOS profile, when using this tool one has to take this into consideration, in interpreting scores.


Diagnostic Interview and Observation Instruments


There are two instruments which are considered ‘gold standard’ in the assessment of a child with social communication deficits and atypical behaviors. This includes; Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule-2 (ADOS-2) . One limitation of the ADI-R tool is that its discriminatory ability decreases in children with mental ages below 20 months. This instrument is not recommended in children with a mental age less than 18 months (Cox et al., 1999). The algorithm scores generated is able to discriminate ASD from language impairment (Mildenberger, Sitter, Noterdaeme, & Amorosa, 2001) and developmental delays (Cox et al., 1999; Lord, Rutter, & Le Couteur, 1994).


Mullen Scales of Early Learning-AGS Edition


Understanding the child’s level of cognitive function is important in interpreting results of diagnostic tests. The use of standardized assessment of cognitive skills and adaptive skills should be considered as part of the battery of tests administered. The Mullen Scales of Early Learning is an instrument that characterizes the cognitive and developmental profile of a child from birth to 68 months. This instrument is commonly used in the evaluation of children with neurodevelopmental challenges. A preliminary study identified that this tool lacks the ability to differentiate between a CP and ASD profile (Burns, King, & Spencer, 2013). In a child with a dual diagnosis of CP + ASD, the use of a single diagnostic instrument to differentiate between the two diagnostic profiles is nonexistent.


Overlapping Features of ASD in the Presence of CP


There has been limited studies which evaluate the co-occurrence of ASD in the presence of CP. Studies focus on the prevalence of the dual diagnosis, presentation of symptomatology, age of diagnosis of the CP + ASD subtype.


Prevalence Data


Early collective prevalence data from registry studies and clinical studies of CP and co-occurring ASD ranges from 8 to 15 % (Kilincaslan & Mukaddes, 2009; Kirby et al., 2011). Higher frequency of ASD was seen in spastic CP. This trend was also noted in Smile et al. (2013) study. In Kilincaslan and Mukaddes (2009) study a CP + ASD profile was more pronounced in children with impaired motor function. However, the CP + ASD profile was mostly seen in children functioning at a GMFCs level of 1 in another study (Smile et al., 2013). This difference could be accounted for by the exclusion of children functioning at a GMFCS level IV or V in the latter study.

In the clinical realm it is quite challenging to be definitive in identifying ASD in a child diagnosed with CP functioning at a GMFCS level of IV and V. As discussed earlier in this chapter, children functioning at GMFCS Levels IV and V have greater challenges with communication and social function. There is a higher prevalence of intellectual disability in this group as well. For these reasons, it is often difficult to identify the key presenting features of ASD in this group of children. Moreover, assessing children presenting with ASD features in this group of individuals with CP is complex; as the high prevalence of intellectual disability, severe language impairment, visual impairment, and significant motor impairment precludes participating in diagnostic instruments such as the ADOS-2. Classic ASD motor behaviors observed such as spinning, persistent toe walking in the absence of a neurological or motor etiology may not be physically possible in children with severe motor impairment (GMFCS level IV or V).


Clinical Presentation


Most recently data from a population based surveillance system which monitors CP, identified that 6.9 % (95 % CI 4.9–9.6 %) of children with CP had co-occurring ASD (Christensen et al., 2014). In this study, children with CP + ASD had a higher frequency of non-spastic CP (22.6 % vs. 7.4 %) as compared to CP only children, with a predominance of hypotonic CP subtype. The majority of CP + ASD children were independent walkers but this did not meet clinical significance. Collectively these studies highlight that ASD in the presence of CP manifests across a range of motor functioning and CP subtype. Clinicians should have a heightened level of suspicion in all children with CP who presents with an impairment in social communication skills, regardless of motor function or CP subtype.

The clinical presentation of ASD in the face of CP has been evaluated in three studies, with noted heterogeneity in the inclusion criteria for CP subtype and outcome measures used to identify ASD symptomatology in CP. Two of these studies used data from the same data sets (Louisiana’s EarlyStep program) and evaluated communication skills and the presence of restricted/repetitive behaviors using the BISCUIT-Part 1 as the primary outcome measure (Hattier, Matson, May, & Whiting, 2012; Hattier, Matson, Sipes, & Turygin, 2011). The third study used retrospective data to describe the frequency of ASD symptomatology in the CP + ASD sample (Smile et al., 2013).

Using the BISCUIT-Part 1 instrument focusing on the communication domain scores, subjects with a CP + ASD profile; either CP + Autism group (M = 10.36, SD = 2.80) and CP+ PDD-NOS group (M = 9.60, SD = 2.84) showed higher scores in the BISCUIT-Part 1 communication scores, indicating greater impairment than the CP only group (M = 4.42, SD = 3.33) p > 0.05. Using the same instrument, subjects with CP + ASD had higher restricted/repetitive behaviors scores (M = 19.79, DS = 11.81) than the CP + PDD-NOS group (M = 5.70, SD = 7.07) and the CP only group (M = 3.82, SD = 0.99) p < 0.001. No significant differences were found between the CP + PDD-NOS group and the CP alone group on the restricted/repetitive behavior domain scores (p > 0.05).

The commonly endorsed behaviors in the CP + ASD group in descending frequency were: expect others to know their thoughts, experiences and opinions without expressing them, limited number of interests, reaction to sound and light, curiosity with surroundings, interest in a highly restricted set of activities, abnormal, repetitive motor movements, preoccupations with parts of objects, restricted interests, prefers food of a certain texture, isolates self and maintains eye contact (Hattier et al., 2012). Collectively these two studies indicate that the CP + ASD profile presents with greater impairment in communication skills and restricted repetitive interest or behaviors as compared to a CP only profile. Other studies using retrospective data have also confirmed this finding of atypical behaviors and impairment in communication skills being the two most common presenting ASD symptom domains reported (Smile et al., 2013).


Age of Diagnosis and Comorbidity


There are few studies that examine the age of ASD diagnosis in CP. Using data from a retrospective study, CP + ASD diagnosis was made at a median age of 66.5 months (31–210 months). Interestingly 25 % of subjects with a CP + ASD profile received a diagnosis by 46 months of age and 75 % were diagnosed by 107 months of age. To put this into perspective the mean age diagnosis of ASD is 61 months (Wiggins et al., 2006).

Thus children with a CP + ASD profile are being diagnosed with ASD later than children with a ASD only profile, although parents are reporting concerning symptomatology in early childhood (Smile et al., 2013). Kilincaslan and Mukaddes (2009) identified epilepsy, learning disability and language delay to be highly associated with a CP + ASD profile. Smile et al. (2013) did not confirm this trend but identified constipation, asthma and aggression as the most common associations with a CP + ASD profile.

There are significant methodological limitations to all three studies and a larger prospective study is needed to better classify medical and behavioral comorbidities associated with the CP + ASD profile. The gulf between current research information regarding clinical trajectories of a child diagnosed with CP and ASD and our “in lived experience as clinicians in the office” is vast.


Clinical Assessment of Autism Spectrum Disorder symptomatology in a Child with Cerebral Palsy


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. Given current limitations of ASD diagnostic instruments as outlined in the previous section, it is important that the clinician utilize a multidisciplinary approach in evaluating social communication skills in a child diagnosed with CP. This approach is preferred given the significant overlap of presenting symptomatology in the SCD in both disorders. The presence of intellectual disability can further complicate the identification of ASD in a child with CP. A clinician who is familiar with the developmental presentation and variability of both disorders should take the lead in the assessment. This team may comprise a pediatrician/developmental pediatrician, psychologist, speech and language pathologist, occupational therapist, and physiotherapist as indicated.

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. We have proposed a stepwise approach in evaluating a child who presents with CP and impairments in social and communication domain suggestive of ASD.

A holistic approach is required when evaluating a child who demonstrates impairments in social communication skills in the presence of motor impairment. We propose a five-step approach in the assessment of such a child. Establishing continuity of care with the patient to be able to appreciate subtle changes in the social affect development and behavior domains over time is strongly recommended.


Step 1: History and Examination


The first step of assessment includes a detailed developmental and behavioral history. We outline key points for each section of the history that should raise the clinician’s index of suspicion regarding an possible diagnosis of ASD. Risk factors, associations, and distinguishing factors for ASD in each section are noted below:


Maternal History


The clinician should establish factors in the prenatal and postnatal period that might be risk factors for ASD. This includes; short interpregnancy interval (<18 months) (Dodds et al., 2011), birth weight, gestational age, and the presence of maternal fever. Additionally research evidence supports the association of mother exposed to rubella, cytomegalovirus, valproate and thalidomide to an increased risk of ASD (Chess, 1971; Rasalam et al., 2005). Other associated factors with ASD may include; history of encephalopathy, neonatal seizures, advanced maternal and paternal age.


Family History


Identifying if an older sibling has a diagnosis of ASD has some utility in differentiating between ASD and a non-ASD profile. Research has shown that the risk that a child with an older sibling with ASD will also develop the disorder is 18.7 % (Ozonoff et al., 2011). For families where two or more siblings have a diagnosis of ASD, the recurrence rate increases to 32.2 %. It is important to ensure that the clinician ascertains a detailed family history. A family history of genetic disorders may add perspective to the child’s developmental profile. These disorders include the presence of Fragile X syndrome (up to 50 % may present with ASD symptoms) and Tuberous Sclerosis (Bolton, Park, Higgins, Griffiths, & Pickles, 2002; Muhle, Trentacoste, & Rapin, 2004; Persico & Napolioni, 2013).


Developmental History


The developmental history should encompass the child’s early acquisition of expected developmental milestones. One approach is to evaluate in detail the child’s social communication skills in the first two years of life. The clinician can identify if the child met early developmental milestones in a timely manner or if there was evidence of developmental decelerating/slowing or regression. The next step is to evaluate how the child’s development evolved over time. Special attention should be to the presence of regression in communication or social skills which are most common between 12 and 24 months age (up to 30 %).


Early Developmental History


It is important to elicit the presence, or absence and quality of eye contact, response to name and the pointing skills (in the absence of motor restrictions). Elicit if there is a history of regression in communication skills: loss of words, loss of previously acquired gestures or no emergences of gestures such as; pointing, or waving. Elicit if there is a history of regression in social skills; eye contact, social smiling or social engagement with others. Regression in social communication skills is noted in up to 20–47 % of children with ASD. It is important that when developmental regression is seen in the face of CP the clinician should rule out other etiologies such as seizures, blocked shunts, worsening sensory impairments, and hearing impairment. The next step is to evaluate each area of development in detail, isolating ASD specific symptomatology.


Communication Skills


It is imperative that a hearing assessment is completed to ensure that impairments in speech is not attributable to hearing impairment. Additionally, in the face of an upper extremity motor impairment (e.g., spastic CP), the use of gestures may be impaired and acquisition of motor skills should be evaluated with caution. In evaluating the child’s communication skills, it is important to establish the child’s level of functioning in the following domains; (1) expressive language, (2) receptive language, and (3) nonverbal communication skills.

Predictive factors for ASD will include: (1) delay in speech with limited use of nonverbal communication skills to compensate for speech deficit (especially absent pointing skills), (2) echolalia (repetition of another person’s speech without a communicative intent), (3) scripted language, (4) restricted topics, (5) odd intonation, (6) limited use of gestures, (7) limited response to name, and (8) unusual prosody. It is important that the clinician not only evaluate for the presence of skills but the QUALITY of these skills. For example when interpreting eye contact, in a child with ASD their eye contact has an avoidant quality to it, whereas a child without ASD may tend to focus on other objects but is not avoidant in their interaction with you.


Social Skills


Lack of or impaired social reciprocity that is not explained by the child’s motor, language, and/or cognitive difficulties is suggestive of an ASD diagnosis. The clinician must interpret social reciprocity in the context of the child’s motor and language function. For example, a child functioning at GMFCS III, CFCS I who constantly directs the play of others with little regard to the suggestions being made by their peers is demonstrating impaired social reciprocity despite their adequate motor and communication abilities. Additionally, a child functioning at GMFCS V, CFCS V who repetitively shakes a favorite toy back and forth with no attempt to involve his parent in his enjoyment of this activity, demonstrates a lack of social engagement and shared enjoyment. Poor eye contact in a child who does not have visual impairment is also concerning. Poor eye contact cannot be reliably used as a feature of ASD in the presence of a visual impairment. Factors suggestive of ASD include: decreased shared positive affect and decreased response to joint attention.

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Jun 12, 2017 | Posted by in NEUROLOGY | Comments Off on Cerebral Palsy and Autism Spectrum Disorder

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