Arlene Mannion (PhD candidate)
NUI Galway
What is Comorbidity?
 Comorbidity is defined as the co-occurrence of two or
more disorders in the same person (Matson & NebelSchwalm, 2007).
 A comorbid condition is a second order diagnosis
which offers core symptoms that differ from the first
disorder.
Why is it important to study
comorbidity in autism?
 1. Lack of research
 2. Medication
 3. Priority of intervention goals
 4. Long-term prognosis
 5. Resources
 6. Stress and burden to care providers
What are the difficulties in diagnosing
comorbid disorders in autism?
 1. Overlap between ASD and intellectual disability.
 2. Symptoms may vary from those seen in general
population.
 3. There are considerable differences in symptoms of ASD.
 4. Symptoms of comorbid disorders can change over time.
 5. Lack of diagnostic instruments available to screen for
these disorders.
What is Epilepsy?
 Epilepsy is a brain disorder marked by recurring
seizures or convulsions.
 Epilepsy, like autism, is increasingly being described as
a spectrum disorder (Jenson, 2011).
 Severity varies widely among people with epilepsy.
Difficulty of diagnosing seizures in
autism
 Distinguishing seizures from non-seizures can be very
difficult in persons with autism especially where learning
disability and communication difficulties are present also.
 Odd behaviours, stereotypy, aggressive behaviour,
neurological deficits, self-injurious behaviour and
diminished responsiveness may be present in a person with
autism whether they have epilepsy or not.
 Seizures can often manifest in ways similar to these
features or behaviours and this can lead to confusion in
determining seizure related behaviour from non-seizures.
Symptoms of seizures
 Episodes of altered consciousness or unresponsiveness that are out of the ordinary for the
person.
 Not responding to tactile stimulation (touch of face or body).
 Unusual eye movements (rapid eye fluttering or fixed eye deviation).
 Unusual head movements.
 Unusual mouth movements (chewing or lip smacking).
 Unusual facial movements (twitching of face).
 Stereotyped hand movements (repetitive reaching).
 Unusual posturing of a limb (freezing of an arm or leg).
 Unexpected incontinence.
Other less-specific symptoms:
 Unexplained confusion.
 Severe headaches.
 Sleepiness or sleep disturbance.
 Marked or unexplained irritability or aggressiveness.
 Regression in normal development.
 It is often very helpful for neurologists to see videotape of
events of concern as this can provide important clues.
Mannion, Leader & Healy (2013)
 Participants were 89 children and adolescents with a
diagnosis of ASD.
 The mean age of the sample was 9 years, ranging from 3 to
16 years. 83% (n = 74) were males and 17% (n = 15) were
female.
 Prevalence of epilepsy in children/adolescents with ASD
was 10.1%.
 Of those with epilepsy, the majority (66.6%) were male.
Associated factors with epilepsy in
ASD
 Amiet, Gourfinkel-An, Bouzamondo, Tordjman, Baulac, Lechat,
et al. (2008) conducted a meta-analysis of epilepsy in autism.
 1. Gender
 Risk for epilepsy was significantly higher among females.
 2. Intellectual Disability
 21.4% of individuals with an intellectual disability had epilepsy .
 8% of those without an intellectual disability had epilepsy.
What are sleep problems?
 Insomnia
 Parasomnias
 Sleep related breathing disorders (e.g. Obstructive Sleep
Apnea; OSA)
 Circadian rhythm sleep disorders
Why is it important to study sleep
problems in autism?
 Sleep disturbance is one of the most common concerns
voiced by parents of children with autism.
 Sleep affects not only children, but families.
 The sleep community has identified autism as a
priority population for targeting interventions for
sleep disorders.
Why is it important to study sleep
problems in autism?
 Poor sleep impacts on the individual’s health, and
daily functioning, as well as the family unit.
 Sleep disorders are highly treatable.
 However, evidence-based standards of care for the
surveillance, evaluation and treatment of sleep
disturbance in the ASD population are greatly needed.
Mannion, Leader & Healy (2013)
 Used the Children’s Sleep Habits Questionnaire
(CSHQ) (Owens, Nobile, McGuinn & Spirito,
2000).
 CSHQ is a parental report sleep screening
instrument.
 It is not intended to diagnose specific sleep
disorders, but rather to identify sleep problems
and the possible need for further evaluation.
Mannion, Leader & Healy (2013)
 Score of 41 is clinical cut-off for identification of probable
sleep problems.
 Subscales:
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




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Bedtime resistance
Sleep onset delay
Sleep duration
Sleep anxiety
Night wakings
Parasomnias
Sleep disordered breathing
Daytime Sleepiness.
Mannion, Leader & Healy (2013)
 80.9% of children presented with a sleep problem
(Score of 41 or over on the CSHQ).
 Study also examined the predictors of sleep problems.
 Investigated whether age, gender, comorbid disorders
(including intellectual disability), Autism Spectrum
Disorder-Comorbid for Children (ASD-CC) score or
gastrointestinal symptoms predicted sleep problems.
Mannion, Leader & Healy (2013)
 Avoidant behaviour, under-eating and total GI symptoms
predicted sleep problems.
 Specifically, abdominal pain predicted sleep anxiety.
 Future research needs to examine the link between sleep
problems and gastrointestinal symptoms.
Link between sleep and
gastrointestinal symptoms
 Sleep disorders were found to be associated with gastrointestinal
dysfunction in children with ASD (Ming, Brimacombe, Chaaban,
Ximmerman-Bier & Wagner, 2008).
 24.5% of a sample of children with ASD had both chronic
gastrointestinal symptoms and sleep problems (Williams, Christofi,
Clemmons, Rosenberg & Fuchs, 2012).
 Chronic gastrointestinal symptoms were independently associated
with increased sleep dysfunction (Williams et al., 2012).
 Sleep problems occurred most frequently in children with
gastrointestinal symptoms (50%) than those without (37%) (Williams,
Fuchs, Furuta, Marcon & Coury, 2010).
Link between sleep problems and
challenging behaviour
 It was found that poor sleepers had a higher percentage of
behavioural problems (such as stereotypy and self injurious
behaviour) than good sleepers (Goldman, McGrew,
Johnson, Richdale, Clemons & Malow, 2011).
 Medication usage, sleep problems and anxiety accounted
for 42% of the variance in challenging behaviour, with sleep
problems being the strongest predictor (Rzepecka,
McKenzie, McClure & Murphy, 2011).
 Stereotypic behaviour was predicted by fewer hours of
sleep per night and screaming during the night (Schreck,
Mulick & Smith, 2004).
What are Gastrointestinal
Symptoms?
Gastrointestinal (GI) symptoms include:
 Nausea
 Bloating
 Abdominal pain
 Constipation and
 Diarrhoea
Why is it important to study GI
symptoms?
 They can cause pain and discomfort to individuals
with ASD.
 Can have an effect on challenging behaviour.
 Can interfere with learning.
Why are GI symptoms difficult to
diagnose in ASD?
 1. Clinical practice guidelines exist for the diagnosis of
ASD, but do not include routine consideration of potential
gastrointestinal symptoms or other medical conditions.
 2. Many individuals with ASD are non verbal and cannot
express pain or discomfort through speech.
 Cannot communicate symptoms as clearly as their typically
developing peers.
 Those who can verbally communicate may have difficulty
describing subjective experiences or symptoms.
Why are GI symptoms difficult to
diagnose in ASD?
 3. Insistence on sameness can lead individuals to
demand stereotyped diets, that may result in
inadequate intake of fibre, fluids and other foods,
which can cause gastrointestinal symptoms.
 4. If medication is administered, it can influence gut
function.
 E.g. Stimulants can cause abdominal pain.
 Beta blockers can cause diarrhoea, constipation and
gastric irritation (Kuddo & Nelson, 2003).
Prevalence of GI symptoms
 The prevalence of gastrointestinal abnormalities in
individuals with ASD is incompletely understood.
 The reported prevalence in children with ASD has
ranged from 9 to 91%.
 It is an area that is in need of future research.
Mannion, Leader & Healy (2013)
 Used the Gastrointestinal Symptom Inventory (Autism Treatment Network,
2005).
 Measured nausea, abdominal pain, bloating, constipation and diarrhoea.
 79.3% of children/adolescents had at least 1 GI symptom.
 23% had 2 symptoms.
 13.8% had 3 symptoms.
 14.9% had 4 symptoms.
 6.9% had all 5 GI symptoms.
Mannion, Leader & Healy (2013)
 Of those with GI issues, most common symptoms
were:
 Abdominal pain (51.7%)
 Constipation (49.4%)
 Diarrhoea (45.9%)
 Nausea (29.9%)
 Bloating (25.3%)
Mannion, Leader & Healy (2013)
 79.3% of children had at least one gastrointestinal
symptom within the last 3 months.
 80.9% had sleep problems.
 67.8% of children had both gastrointestinal symptoms
and sleep problems.
Toileting
 Toileting is a critical skill necessary for independent
living, and incontinence is a significant quality of life
barrier for individuals with autism (Kroeger &
Sorensen-Burnworth, 2009).
Dalrymple & Ruble (1992)
 Dalrymple & Ruble (1992) found that lower cognition and
lower verbal levels were significantly correlated with age of
accomplishment of bowel and urine training in individuals
with autism.
 About 30% of the individuals with autism had fears
associated with toileting, whereby verbal individuals had
the most.
 Most common toileting problems were urinating in places
other than the toilet, constipation, stuffing up toilets,
continually flushing and smearing.
POTI
 Matson, Dempsey and Fodstad (2010) developed the
Profile of Toileting Issues (POTI) questionnaire.
 Lower adaptive functioning was associated with
greater toileting problems (Matson, Barker,
Shoemaker & Mahan, 2011).
Take Home Messages:
 It is important to diagnose comorbid disorders in order to
provide the best possible treatment for a child with autism.
 It is essential that we distinguish between the symptoms of
autism and the symptoms of comorbid disorders.
 Communication impairments in autism may lead to unusual
presentations of gastrointestinal symptoms, including sleep
disturbances and challenging behaviour.
 Sleep problems are highly treatable.
Take Home Messages:
 We need parents to get involved in research, even if their
children are not presenting with comorbid symptoms.
 By comparing children with autism with and without
comorbid symptoms, we can understand a lot more about
comorbidity.
 When we understand comorbidity better, we can then focus
on establishing the most effective treatment for children with
autism.
Contact:
 Arlene Mannion, PhD candidate in Irish Centre for
Autism and Neurodevelopmental Research, NUIG.
 Email: a.mannion3@nuigalway.ie