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Comorbidity in Autism Spectrum Disorder

Comorbidity in Autism Spectrum Disorder. 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 & Nebel-Schwalm, 2007).

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Comorbidity in Autism Spectrum Disorder

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  1. Comorbidity in Autism Spectrum Disorder Arlene Mannion (PhD candidate) NUI Galway

  2. 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.

  3. 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

  4. 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.

  5. Epilepsy

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. Sleep Problems

  13. What are sleep problems? • Insomnia • Parasomnias • Sleep related breathing disorders (e.g. Obstructive Sleep Apnea; OSA) • Circadian rhythm sleep disorders

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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).

  21. 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).

  22. Gastrointestinal Symptoms

  23. What are Gastrointestinal Symptoms? Gastrointestinal (GI) symptoms include: • Nausea • Bloating • Abdominal pain • Constipation and • Diarrhoea

  24. 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.

  25. 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.

  26. 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).

  27. 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.

  28. 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.

  29. 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%)

  30. 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.

  31. Toileting Problems

  32. 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).

  33. 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.

  34. 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).

  35. 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.

  36. 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.

  37. Contact: • Arlene Mannion, PhD candidate in Irish Centre for Autism and Neurodevelopmental Research, NUIG. • Email: a.mannion3@nuigalway.ie

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