What is Comorbidity? Comorbidity is defined as the
co-occurrence of two or more disorders in the same person (Matson
& Nebel- Schwalm, 2007). A comorbid condition is a second order
diagnosis which offers core symptoms that differ from the first
disorder.
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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
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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What are sleep problems? Insomnia Parasomnias Sleep related
breathing disorders (e.g. Obstructive Sleep Apnea; OSA) Circadian
rhythm sleep disorders
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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.
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Why is it important to study sleep problems in autism? Poor
sleep impacts on the individuals 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.
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Mannion, Leader & Healy (2013) Used the Childrens 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.
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Mannion, Leader & Healy (2013) Score of 41 is clinical
cut-off for identification of probable sleep problems. Subscales:
Bedtime resistance Sleep onset delay Sleep duration Sleep anxiety
Night wakings Parasomnias Sleep disordered breathing Daytime
Sleepiness.
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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.
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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.
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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).
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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).
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What are Gastrointestinal Symptoms? Gastrointestinal (GI)
symptoms include: Nausea Bloating Abdominal pain Constipation and
Diarrhoea
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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.
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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.
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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).
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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.
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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.
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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%)
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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.
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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).
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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.
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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).
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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.
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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.
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Contact: Arlene Mannion, PhD candidate in Irish Centre for
Autism and Neurodevelopmental Research, NUIG. Email:
[email protected]