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Co-occurring Physical, Medical, and Mental Health Conditions in Young Children with ASDCesar Ochoa, MDRush University Medical CenterJanuary 31, 2020

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Email from EITP(eitraining@ illinois.edu)

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Today’s Presenter

Cesar Ochoa-Lubinoff, MDHead, Developmental-Behavioral PediatricsAssociate Professor of PediatricsRush University Medical Center

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Common Co-Occurring Conditions with ASD

General Medical Developmental

Psychiatric

Behavioral issues

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Medical Co-Occurring Conditions

General Medical

Gastrointestinal

9-70%

Epilepsy

8-30%

Sleep Disorders

50-80%

Immune Dysregulation

<38%

Genetic Conditions

5%

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Additional Common Medical Issues in ASD

Gurney, et al. National Survey of Children’s Health. Arch Pediatric Adolescent Med. 2006

Dental caries -emphasize dental

care

Allergies – food allergy ↑

Minor injuries

Ear infections Headaches

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Medical Co-occurring ConditionsMedical disorders in children with ASD are widespread and manifest across different areas, such as immunology, neurology and gastroenterology.

The prevalence of medical disturbances in ASD is reported over a wide range, because of the challenges in ascertaining these conditions as well as differences between ASD samples.

Gastrointestinal disorders (GID) and sleep problems increase the risk in ASD patients to have GID, sleep problems and seizures. The presence of seizures doesn’t increase the risk for GID or SD.

The presence of GID, seizures and sleep problems together predicted more severe adaptive behavioral symptoms relevant to their ASD diagnosis.

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Gastrointestinal Symptoms In Children with ASD

Common symptoms include:• chronic constipation, • abdominal pain, • chronic diarrhea, and• gastro-esophageal reflux

disease

Associated disorders include:• gastritis, • esophagitis, • inflammatory bowel

disease, • celiac disease, • Crohn’s disease, and• colitis

Correlation between certain behavioral problems, such as

anxiety and aggression,

and the increase in GI disorders is now

known

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STUDY DESIGN FINDINGS140-170 children with ASD – Cross Sectional study

24-63% History of at least one GI symptom: diarrhea, unformed stools, constipation, bloating and/or gastro-esophageal reflux disease

150 children (50 ASD, 50 DD, 50 controls) – Cross sectional study

70% 70% of children with ASD presented GI symptoms compared with 42% of DD children and 28% controls. Abnormal stool pattern and food selectivity were more common in ASD patients. No association between a family history of autoimmune disease and GI symptoms in children with ASD

124 children with ASD and two matched controls for each patient were followed longitudinally for 18years

No increased risk of GI diseases or inflammatory and/or malabsorption compared to typical controls. The only significant difference was feeding issues/food selectivity (24.5% vs 16.1%) and constipation (33.9% vs 17.6%) in ASD people.

Gastrointestinal Symptoms In Children with ASD

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Feeding Disorders and ASD

Feeding problems are defined as:

a disorder in which the inability or refusal to orally consume adequate nutritional,

hydration or caloric intake in the amounts required to thrive, results in negative nutritional, developmental, social and

psychological consequences.

Earlier studies demonstrated a prevalence ranging from 6 to 33% (1971).

More recent (2004) prevalence rates of

feeding problems range from 13 to 80%

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Causal Factors Associated With Feeding Problems in ASD

• Sensory processing deficits & food selectivity• 78 to 90% of children with ASD experience and sensory

impairment/defensiveness is frequently noted in the literature as a reason for high prevalence rates of feeding problems in ASD.

• Skill deficits, such oral-motor delays which affect the child’s ability to swallow, chew and suck

• Gastrointestinal disorders• High prevalence of GI symptoms of children with feeding

problems• Gastroesophageal reflux disease has been found to be the most

common condition associated to feeding disorders • Constipation and diarrhea are also often associated with feeding

disorders

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Symptoms Or Issues Associated To Feeding Disorders

Food selectivity

Disruptive mealtime behaviors

Food refusal

Limited food repertoire

Restricted intake

Most common DSM-5 feeding disorders in ASD: • Avoidant/Restrictive Food Intake Disorder

• Pica/Rumination Disorder

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Food SelectivitySelective ("picky") eaters• Most show aversions to

specific food colors, texture, smells or other foods’ characteristics

Adversely effects:• diet quality, • nutritional deficiency and, • gut microbiota

composition

Many ASD/co-occurrent GI disorders influenced by dietary habits that may

exacerbate ASD symptomatology

Currently, it is difficult to precisely decipher the physiological processes that link together food selectivity and GI problems

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PICA

• The eating of non-nutritive, non-food substances that is persistent over a period of at least 1 month.

• It is inappropriate to the developmental level of the individual and is not part of a culturally supported or socially normative practice.

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PICA• Poorly understood and considered multifactorial:

• An association with micronutrient deficiencies, including iron, calcium and zinc• Higher incidence in children with neurodevelopmental disabilities, including ASD, was

traditionally believed to result from an inability to differentiate between food and non-food items.

However, current thinking suggests that this is more likely to be secondary to learned behaviors.

• Pica in children has also been associated with deprivation, parental neglect and malnutrition.• It may present in the presence of a coexisting psychiatric disorder• Increasing evidence that it may be associated with conditions leading to malabsorption, poor

nutritional status or anemia.

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PICA

Evaluation: Look for anemia, iron deficiency,

blood lead level, infections and parasites, bowel and dental problems

Multidisciplinary approach: The team may include physicians, social

workers, dieticians, psychologists and dentists.

When devising a treatment plan, consider the symptoms and complications that the child is

experiencing.

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Nutritional & Medical Risks Associated With Feeding Disorders

Malnutrition

Vitamin and mineral deficiencies:• Lower calcium intake, rickets

and/or poor bone health • Iron deficiency

Preference for sugary/fatty foods• supports the emerging

evidence for greater risks of obesity in this population

Invasive medical procedures,

such as the insertion of feeding tubes with ASD

who present w ith feeding problem s

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Dietary Interventions In ASD

1. GLUTE-FREE CASEIN-FREE DIET

2. KETOGENIC DIET

3. THE SPECIFIC CARBOHYDRATE DIET

4. THE MEDITERRANEAN DIET

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Gluten-free Casein-free Diet

• Exclusion of all gluten-containing food items including:• wheat, oats, barley or rye, which are, all flours, bread, rusks,

pasta, pastries, and other bakery products made with these cereals,

• Elimination of casein means no intake of dairy products: • milk, including breast milk, yogurt, cheese, butter, cream, or ice

cream among others

• In all patients, this diet could be recommended when allergies or allergic intolerance is diagnosed

• Conflicting results have been recorded on ASD cohorts: • some evidence supports the use of this diet in the amelioration

of ASD symptoms showing that the GF/CF diet decreases urine peptides, improves behavior and decreases GI symptoms;

• Other studies highlighted that the adoption of this elimination diet could decrease fiber intake, thus probably aggravating the GI symptoms.

• To date evidence to support or refute the GC/CF diet is limited an inadequate in terms of quantity and quality.

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The Gut-brain Axis Hypothesis

• Many ASD children have also been shown to carry abnormalities in GI physiology, including: • increased intestinal permeability, • overall microbiota alterations, and • gut infection with cresol-producing Clostridium difficile

• Recent evidence in human gut microbiota studies highlighted the existence of a close connection between gut and brain functions, the so called “gut-brain axis”, including neural, hormonal, immune, and metabolic pathways.

• Neuro-immune pathways can contribute to ASD symptomatology via the gut–brain axis. It has been proposed that cytokines associated with ASD, due to an inflamed gastrointestinal tract, may cross the blood-brain barrier and help an immune response in the brain, thus influencing behavior.

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Epilepsy and ASD

• The estimated prevalence of epilepsy in ASD is 12.1%

• Factors such as • genetic and chromosomal abnormalities, • metabolic conditions, • environmental factors, e.g., maternal rubella during pregnancy, and • brain damage via neonatal jaundice,

are examples that have been recognized as predisposing to both epilepsy and autism.

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Epilepsy and ASD

There is increased frequency of epilepsy in individuals with ASD & intellectual disability or genetic syndromes

Females (34.5%) with autism had a higher prevalence of epilepsy compared to males with autism (18.5%).

Two age peaks of onset: early childhood and adolescence

It has been found that symptoms of autism can be minimized when epilepsy is treated in patients with both conditions

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Sleep disorders and ASD

Sleep problem s in children with ASDD is

one of the prim ary concerns and one of the m ajor reason parents seek m edical

help

The prevalence of sleep disorders m ay be

as high as 60–86%, which is 2-3 tim es

greater than typically developing (TD) children

Sleep is critical for typical synaptic

developm ent and brain m aturation, and poor sleep can have detrim ental effects on

children’s cognition in the dom ains of attention, m em ory, m ood regulation, and

behavior.

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Sleep Disorders and ASD

Children with ASD often have difficulties with falling and staying asleep, with night waking having a strong association with daytime behavior problems.

Studies utilizing actigraphy and polysomnography with children with ASD have found shorter sleep time, longer sleep latency, and decreased sleep efficiency as compared to TD control groups

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Sleep Problems In ASD Are Multifactorial

Neurobiological, medical, behavioral, and cultural mechanisms

However, the underlying biological and behavioral rhythms of ASD predisposes children to both extrinsic and intrinsic stressors that threaten sleep, making children with ASD uniquely vulnerable to sleep problems

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Sleep Disorders and ASD

Hypotheses regarding intrinsic causes of insomnia in children with ASD

include:

• Brain wave organizational and maturational differences

• Circadian-relevant genes• Abnormal melatonin production• Arousal and sensory dysregulation.

Intrinsic hypotheses• Co-occurring psychiatry disorders

(ADHD, Anxiety) that are associated with high arousal

Behavioral insomnias of childhood (BIC) are the most common extrinsic

causes of insomnia in children, including those with ASD.

• Extrinsic causes of insomnia in children with ASD include• Behavioral Insomnias • Sleep-onset association type• Behavioral Insomnias – Limit

setting type• Predisposing factors• Precipitating factors• Perpetuating factors

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Sleep Interventions For MedicalPractitioners

• All children should be screened for sleep problems

• Discuss parental concerns

• Underlying medical conditions that may be contributing to sleep problems should be screened and treated

• Determine the willingness and capacity of the family to implement a sleep intervention.

• The first-line approach is parent education about environmental modification, positive bedtime routines, and behavioral strategies.

• Introduce the ATN Sleep Tool Kit and educational materials with visual schedule.

• If the family is unable or unwilling to follow environmental and behavioral strategies, consider consultation to a sleep specialist.

• Pharmacological interventions may be considered, start with melatonin.• Timely follow-up in 2–4 weeks for all interventions

• Annual reassessment for all children with ASD is important

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Medical Conditions That May Contribute To Sleep Problems

Medical Conditions

Gastrointestinal disorders

• Reflux• Constipation Pain

Respiratory disorders• Sleep-disordered breathing

• Allergies• Asthma

Neurological disorders• Epilepsy/seizures

• Restless leg syndrome• abnormal movements

Skin and integumentary

disorders• Eczem a/itching

Dental issues

Sensitivity to textures/light/sound

Nutrition• Hunger

• Iron deficiency

Obstructive sleep apnea

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Immune Dysregulation and ASD

• Those with Autism have an elevated prevalence of specific immune-related comorbidities: • Allergies to food and rhinitis, and • autoimmune diseases, in particular psoriasis,occur more often than expected in children with autism.

• The presence of an ASD diagnosis does not appear to influence the diagnosis of the immune condition.

More research is needed into the biologic mechanisms underpinning the association between immune-mediated conditions and autism spectrum disorders. Findings from such research could aid discovery of etiologic factors and help focus treatment approaches for individuals with autism spectrum disorders and immune comorbidities.

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Genetic Disorders and ASD

• Collectively called syndromic autism. • Fragile X syndrome (21–50% of individuals affected have autism)• Rett syndrome (most have autistic features but with profiles different from idiopathic autism)

• Tuberous sclerosis complex (24–60%)• Down’s syndrome (5–39%)• Phenylketonuria (5–20%)• CHARGE syndrome (coloboma of the eye; heart defects; atresia of the choana; retardation of

growth and development, or both; genital and urinary abnormalities, or both; and ear abnormalities and deafness; 15–50%)

• Angelman syndrome (50–81%)

• Timothy syndrome (60–70%)• Joubert syndrome (~40%)

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Developmental Co-Occurring Conditions

Developmental

Intellectual Disability

45%

Language Disorder

Variable

Attention Deficit Hyperactivity

Disorder

28-44%

Tic Disorders

14-38%

Motor Abnormalities

<79%

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Cognitive Functioning And Intellectual Disabilities and ASD

• Prevalence estimate of intellectual disabilities is affected by the diagnostic boundary and the definition of intelligence (eg, whether verbal ability is used as a criterion)

• In individuals, discrepant performance between subtests is common

• Among preschool children in whom ASD is a concern, many but not all will have an intellectual disability

• Statistics vary tremendously, with 11–65% of school-age children with ASD reported as having intellectual disabilities (IQ <70)

• Populations of children in different clinics and research samples can be quite dissimilar, and variation among adults can be even more pronounced

• Important for clinicians and families to know about cognitive and language abilities for children as they grow older and to discuss these issues

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ADHD & ASD

•ADHD is highly co-morbid in children and adolescents with ASD, and should be screened for in all youth with ASD

• The higher the severity of ASD, the higher the chance of comorbidities

•ADHD co-occurrence in ASD is associated with worse functioning and additional psychiatric symptoms

•The differential diagnosis of ADHD in ASD is more complex

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Preschoolers With ADHD & ASD

• Preschoolers with severe ADHD present significant challenges

• Evidence for treatment is sparse

• An evidence base for several medications is growing (methylphenidate, adderall, guanfacine)

• Response rates are reduced

• Side effect burdens are greater

• Larger studies on effects on core ASD deficits and cognition are needed

• Careful monitoring of treatment effects using multiple informants is recommended

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Tic Disorders and ASD

~6.5% of individuals with Autism have Tourette’s syndrome

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Motor Abnormalities and ASD

Motor delay

Hypotonia

Deficits in coordination

Movement preparation

and planning

Praxis

Gait

Balance

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Psychiatric Co-Occurring Conditions

Psychiatric

Anxiety

42-56%

Depression

12=70%

Obsessive-Compulsive

Disorder

7-24%

Substance Use Disorders

<15%

Psychotic Disorder

12-17%

Oppositional Defiant

Disorder

16-28%

Eating Disorder

4-5%

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Concomitant Psychiatric Disorders in Children With ASD

658 ASD (age 3–17 years; mean = 7.2 years) children referred for hyperactivity or irritability between 1999 and 2014 using Child and Adolescent Symptom Inventory or Early Childhood Inventory

ADHD 81%

ODD 46%

Anxiety Disorders 42%

Mood Disorders 8%

Conduct Disorder 12%

Compr Psychiatry. 2019 Jan;88:57-64. doi: 10.1016/j.comppsych.2018.10.012. Epub 2018 Nov 6. An exploration of concomitant psychiatric disorders in children with autism spectrum disorder.

Lecavalier L1, McCracken CE2, Aman MG3,

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Overlapping Psychiatric Comorbidities With ADHD in ASD

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Anxiety and ASD

• Common across all age groups

• Most common are:• Social anxiety disorder (13–29% of individuals with

autism)• Generalized anxiety disorder (13–22%)

• High-functioning individuals are more susceptible (or symptoms are more detectable)

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Anxiety Adversely Impacts Functioning

Exacerbates ASD symptoms

Interferes with treatments for ASD

Irritability, outbursts, self-injury, GI symptoms

Increases parental stress and anxiety

Risk for long term psychopathology

Influences transition planning to adulthood

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Common Presenting Symptoms“Having

meltdowns all day”

“Just seems on edge all day”

“Won’t go to community

college. Only takes online

classes”

“Not interested in making friends”

“Really scared of getting his haircut”

“Doesn’t like loud noises. We can’t go anywhere”

“Yelling at people at

work”

“Looks sad all the time”

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Table 1. Prevalence of DSM-IV Disorders

Disorder Prevalence/100 95% Cl

Any disorder 70.8 58.2-83.4

Any main disordera 62.8 49.8-75.9

Any emotional disorderb 44.4 30.2-58.7

Any anxiety or phobic disordersc 41.9 26.8-57.0

Generalized anxiety disorder 13.4 0-27.4

Separation anxiety disorder 0.5 0-1.6

Panic disorder 10.1 0-24.8

Agoraphobia 7.9 3.0-12.9

Social anxiety disorder 29.2 13.2-45.1

Simple phobia 8.5 2.8-14.1

Obsessive-compulsive disorder 8.2 3.2-13.1

Any depressive disorder 1.4 0-3.0

Major depressive disorder 0.9 0-2.3

Dysthymic disorder 0.5 0-1.4

Simonoff et al., 2008 J Am AcadChild and AdolescPsychiatry

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Types of Anxiety • Traditional disorders (based on the DSM)• Generalized anxiety disorder • Separation anxiety disorder • Social phobia Specific phobia • Obsessive-compulsive disorder • Posttraumatic stress disorder

• Ambiguous presentations

• Unspecified anxiety disorder (Connected to core features of ASD)

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Ambiguous Anxiety and ASDExcessive fear about

novelty, rules,

change

Social

fearfulness

Worries related to intense

preoccupations Varied specific phobias

Fears of m

en

with beards,

exposed pipes,

graffiti, fans,

soap

Without the

fear of negative

evaluation

Anxiety that is linked to core ASD symptomsNot described in the DSM

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ANXIETY ASD

Social avoidanceDisinterest

Fear of social situations Reduced social motivation

Repetitive behaviors Anxious/compulsive need to complete

Pleasurable/soothing

Perseveration True concern about a worry

Repetitive speech

Behavioral reactions to change

Anticipation about upcoming changes

Need for sameness

Sensory over-reactivity Excessive anxiety, anticipation, agitation when exposed to sensory trigger

Discomfort/behavioral reaction when exposed to sensory stimuli

Constricted affect Worrying/depression Reduced affect modulation in AS

Behavioral outburst Clearly in response to anxious trigger

Attention seeking, escaping demands, etc.

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Modified Cognitive Behavioral Therapy

Primary Diagnosis ASD, FSIQ >70

Secondary Diagnoses

Social anxiety, generalized anxiety, and

separation anxiety disorder

Treatment: 12-16 weeks

Modifications: General

concepts of stress and

feeling upset

Identifying anxious

situations

Graduated exposures with reinforcem ent

Self-regulation strategies

Lim ited cognitive

restructuring

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Behavioral Therapy In Individuals With ASD

• Graduated exposures and reinforcement • Relaxation strategies• Communication strategies• Modeling

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Multidisciplinary Treatment Planning and ASD

Therapy

Assess level of supports -home and school

Improve communication, adaptive functioning, social skills

Address strengths

Build on strengths –build competencies

Medications are one part of the treatment plan

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Pharmacotherapy

Meds for anxiety

Sertraline

Fluoxetine

Citalopram

Escitalopram

Meds for anxiety-specific symptoms

Insomnia: Melatonin, Clonidine

Physiological arousal: Clonidine, Guanfacine

Behavioral Dysregulation: Clonidine, Guanfacine, Atypical anti-psychotics

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Depression

• Common in adults, less common in children

• High-functioning adults who are less socially impaired are more susceptible (or symptoms are more detectable)

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Obsessive-compulsive disorder

repetitive behaviors that do not involve intrusive, anxiety-causing thoughts

or obsessions (part of autism)

repetitive behaviors that involve intrusive, anxiety-

causing thoughts or obsessions(and are part of

obsessive-compulsive disorder)

Shares the repetitive behavior domain with autismImportant to distinguish between:

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Oppositional Defiant Disorder (ODD)

Oppositional behaviors could be a manifestation of anxiety, resistance to change, stubborn belief in the correctness of own point of view, difficulty seeing another’s point of view, poor awareness of the effect of own behavior on others, or no interest in social compliance.

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Before the age of 8 years

May progress to Compliance Disorder (CD)

High percentage of children with ADHD have ODD

•More boys than girls before puberty then equal!•Start to see in late preschool and early elementary•Younger children need more frequent symptoms – differentiate from normal

The etiology of ODD is not clearly defined. Most experts think it is caused by the cumulative effect of multiple risk factors that stem from biologic, psychological, and social issues. Social support is a protective factor.

ODD - 2-15% of Children

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ODD: Four Symptoms for at Least Four Months

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Behavioral Co-Occurring Conditions with ASD

Behavioral issues

Aggressive behaviors

<68%

Self-injurious behaviors

<50%

PICA

~36%

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Aggressive Behaviors and ASD

Often directed towards caregivers rather than non-caregivers

Could be a result of empathy difficulties, anxiety, sensory overload, disruption of routines, and difficulties with communication

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Self-injurious Behaviors and ASD

Associated with impulsivity and hyperactivity, negative affect, and lower levels of ability and speech

Could signal frustration in individuals with reduced communication, as well as anxiety, sensory overload, or disruption of routines

Could also become a repetitive habit

Could cause tissue damage and need for restraint

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Many Possible Targets For Treatment

Medical comorbidity (start here)

Core symptoms (behavioral treatment)

Communication (behavioral and speech treatment)

Psychosocial stress (structure and family treatment)

Psychiatric comorbidity –Pay attention to family history

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Evaluating and Treating Agitation/Aggression in ASD

Treat co-occurring psychiatric disorders first (make ADHD, anxiety, mood diagnosis)

Improve maladaptive reinforcement –Differential reinforcement of other behavior (ABA)

Improve communication

Address psychosocial stressors

Medical/sleep work-up

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Teaching Communication to Replace a Problem Behavior

Identify an appropriate

communication strategy to replace the

problem behavior

Set up context that triggers

problem behavior

Quickly prompt for the

communication behavior

Reinforce new appropriate

behavior with the desired

consequence

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Selecting Appropriate Communication Form • Does the individual have any functional spoken

language?

• Can the individual imitate verbal models?

• Is the individual currently using any augmentative communication system?

• What type of system will be easy to introduce? • Options:

• Gestures • Verbal language • Picture cards • Communication devices

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Important Considerations

Consequence must be MORE effective than consequences of problem behavior

Receptive language skills play a role in behavior-use simple communication and visual supports to support comprehension

Teaching communication will not by itself eliminate problem behaviors

Use positive behavioral supports

Alter antecedents

Teach delayed reinforcem ent

Generalize com m unication behavior

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Functional Behavior Analysis

Direct Direct observation, interviews/checklists

Collect Collect data to confirm the function

Hypothesize Hypothesize the function

Consequences Identify the typical consequences

AntecedentIdentify the antecedents (events, times, and situations that predict problem behaviors)

Describe Describe behavior

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Why Do Problem Behaviors Persist?

Problem behaviors persist because they

produce a desired consequence:

The delivery of a preferred item/activity

(i.e., positive reinforcement)

The removal of a non-preferred or aversive

item/activity (i.e., negative reinforcement)

Sensory stimulation

Pleasurable consequence

Attenuation of painful event

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Behavioral Interventions

• Behavioral treatments involve: • Continuing to reinforce existing appropriate

behavior • Discontinuing the consequence found to

maintain the problem behavior. • Teaching new and appropriate ways to access

the consequence that maintained the inappropriate behavior.

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Common Co-Occurring Conditions with ASD

General Medical Developmental

Psychiatric

Behavioral issues

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Questions?

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Thank you for your participation!

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Email from EITP(eitraining@ illinois.edu)

AFTER the webinar concludes - Includes evaluation survey

Complete surveyCertificate of completion

emailed within 24 hours of survey received

ILLINOIS EI andILLINOIS STATE LICENSURE* credit

*OT, PT, SLP, SW, Nutrition/Dietitian

If you joined as a group, each individual will need to complete the unique survey for credit

70

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