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Arlene Mannion (PhD candidate) NUI Galway

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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: a.mannion3@nuigalway.ie