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Assessment and Management of Autism Spectrum Disorder in the Primary Care Setting
Stephanie Spaulding, RN, BSN, OCN, NP-S University of California Irvine March 21, 2015
Disclosures
• Relevant Financial Disclosures
I have no financial relationships or
affiliations related to this presentation
to disclose.
Disclosures
• Non-FDA Approved Uses
o Brief discussion of off-label use of
pharmacotherapeutics in specialty care
practice and implications for primary care
o Examples: Selective Serotonin Reuptake Inhibitors
(SSRIs); stimulants; alpha-2 adrenergic agonists;
atypical neuroleptics
Autism Spectrum Disorder: Prevalence • 5th most prevalent pediatric mental
health disorder in the United States 1
• Rapidly increasing prevalence: o 1943: RARE – 2-4 per 10,000 children2
o 2006: Approximately 1 in 110 children3
o 2010: Approximately 1 in 68 children1
Autism Spectrum Disorder: Prevalence • Disproportionately impacts boys over
girls at a rate of almost 5:1 3
o 1 in 42 boys in the United States 3
o Studies suggest comparable or higher
prevalence rates in other parts of the
world 3,4
Autism Spectrum Disorder: Etiology • 10% of cases have identifiable genetic and
chromosomal etiologies (Fragile X Syndrome,
tuberous sclerosis, metabolic syndromes) 5
• Majority of cases (90%) are idiopathic with
potentially multiple genetic determinants and
environmental contributing factors 5
Autism Spectrum Disorder: Defined
• Complex and potentially multiple etiologies
o The Autisms 6
• ASD is a group of disorders currently
diagnosed clinically by core symptoms set
forth in the Diagnostic and Statistical Manual
of Mental Disorders (DSM V) 7
Autism Spectrum Disorder: DX Criteria – The Long Form
• Diagnostic and Statistical Manual of Mental Disorders (DSM V Criteria) 7
• A. Persistent deficits in social communication and social
interaction across multiple contexts, as manifested by the
following, currently or by history (examples are illustrative,
not exhaustive):
o 1. Deficits in social-emotional reciprocity, ranging, for example,
from abnormal social approach and failure of normal back-and-
forth conversation; to reduced sharing of interests, emotions, or
affect; to failure to initiate or respond to social interactions.
Autism Spectrum Disorder: DX Criteria – The Long Form
• Diagnostic and Statistical Manual of Mental Disorders (DSM V Criteria Continued) 7
o 2. Deficits in nonverbal communicative behaviors used for social
interaction, ranging, for example, from poorly integrated verbal
and nonverbal communication; to abnormalities in eye contact
and body language or deficits in understanding and use of
gestures; to a total lack of facial expressions and nonverbal
communication.
Autism Spectrum Disorder: DX Criteria – The Long Form
• Diagnostic and Statistical Manual of Mental Disorders (DSM V Criteria Continued) 7
o 3. Deficits in developing, maintaining, and understanding
relationships, ranging, for example, from difficulties adjusting
behavior to suit various social contexts; to difficulties in sharing
imaginative play or in making friends; to absence of interest in
peers.
• Severity is based on social communication impairments and
restricted repetitive patterns of behavior.
Autism Spectrum Disorder: DX Criteria – The Long Form
• Diagnostic and Statistical Manual of Mental Disorders (DSM V Criteria Continued) 7
• B. Restricted, repetitive patterns of behavior, interests, or
activities, as manifested by at least two of the following,
currently or by history (examples are illustrative, not
exhaustive):
o 1. Stereotyped or repetitive motor movements, use of objects, or
speech (e.g., simple motor stereotypies, lining up toys or flipping
objects, echolalia, idiosyncratic phrases). 7
Autism Spectrum Disorder: DX Criteria – The Long Form
• Diagnostic and Statistical Manual of Mental Disorders (DSM V Criteria Continued) 7
o 2. Insistence on sameness, inflexible adherence to routines, or
ritualized patterns or verbal nonverbal behavior (e.g., extreme
distress at small changes, difficulties with transitions, rigid
thinking patterns, greeting rituals, need to take same route or eat
food every day).
o 3. Highly restricted, fixated interests that are abnormal in
intensity or focus (e.g, strong attachment to or preoccupation with
unusual objects, excessively circumscribed or perseverative
interest).
Autism Spectrum Disorder: DX Criteria – The Long Form
• Diagnostic and Statistical Manual of Mental Disorders (DSM V Criteria Continued) 7
o 4. Hyper- or hypo-reactivity to sensory input or unusual interests
in sensory aspects of the environment (e.g., apparent indifference
to pain/temperature, adverse response to specific sounds or
textures, excessive smelling or touching of objects, visual
fascination with lights or movement).
• Severity is based on social communication impairments and
restricted, repetitive patterns of behavior.
Autism Spectrum Disorder: DX Criteria – The Long Form
• Diagnostic and Statistical Manual of Mental Disorders (DSM V Criteria Continued) 7
• C. Symptoms must be present in the early developmental
period (but may not become fully manifest until social
demands exceed limited capacities, or may be masked by
learned strategies in later life).
• D. Symptoms cause clinically significant impairment in
social, occupational, or other important areas of current
functioning.
Autism Spectrum Disorder: DX Criteria – The Long Form
• Diagnostic and Statistical Manual of Mental Disorders (DSM V Criteria Continued) 7
• E. These disturbances are not better explained by
intellectual disability (intellectual developmental disorder)
or global developmental delay. Intellectual disability and
autism spectrum disorder frequently co-occur; to make
comorbid diagnoses of autism spectrum disorder and
intellectual disability, social communication should be below
that expected for general developmental level.
Autism Spectrum Disorder: DX Criteria – The Long Form
• Diagnostic and Statistical Manual of Mental Disorders (DSM V Criteria Continued) 7
• Note: Individuals with a well-established DSM-IV diagnosis
of autistic disorder, Asperger’s disorder, or pervasive
developmental disorder not otherwise specified should be
given the diagnosis of autism spectrum disorder. Individuals
who have marked deficits in social communication, but
whose symptoms do not otherwise meet criteria for autism
spectrum disorder, should be evaluated for social
(pragmatic) communication disorder.
Autism Spectrum Disorder: Diagnosis Criteria Summary
o Communication and social interaction
deficits
o Restricted repetitive language and behaviors
o Inflexibility and rigidity
o Sensorimotor dysregulation (hypo and hyper-reactivity)
o Impact: Mild to Severe 7
Why Does This Matter to Primary Care Nurse Practitioners?
• Per the Council of Pediatric Subspecialties:
o HUGE SHORTAGE of specialty providers in
pediatric mental health across the U.S.
o Less than 7, 500 practicing child and adolescent
psychiatrists and less than 600 developmental
behavioral pediatricians
o Only 20% of children with emotional/behavioral
problems receiving any mental health treatment 8,9
Why Does This Matter to Primary Care Nurse Practitioners?
• Shortages of specialty providers and shortages in State funding can mean delays of months to over a year for access
• With no current curative interventions, early and intensive intervention has been found to be the most effective strategy for maximizing function in ASD5
Role of Nurse Practitioners in ASD Assessment and Management
• Early identification and timely referral o For Evaluation/Diagnosis, Audiology, PT, OT, Speech,
Behavioral
• Assessment and management of common
problems and comorbidities seen in ASD o Alteration in Nutrition, GI/Toileting, Sleep Disturbance
• Co-management of medications prescribed in
specialty practice
Early Identification of ASD
• Autism Spectrum Disorder often presents prior to
the age of 2 years and initial symptoms may be
apparent at birth10
• Listen to parents: Their concern is a good predictor
of atypical development prior to 24 months10,11
• Better outcomes are linked to more intensive
behavioral regimens started at a younger age
(prior to 2-3 years of age) but there is no point where
not beneficial11
Early Identification of ASD: RED FLAGS
RECOGNIZE THE SYMPTOMS:10
• Not respond consistently to their name by 12 months
• Not point at objects to show interest by 14 months
• Not play "pretend" games by 18 months (feed a baby)
• Avoid eye contact and want to be alone
• Have delayed speech and language skills
• Repeat words or phrases over and over (echolalia)
• Have trouble understanding other people's feelings or
talking about their own feelings
Early Identification of ASD: RED FLAGS
RECOGNIZE THE SYMPTOMS:10
• Give unrelated answers to questions
• Get upset by minor changes and transitions
• Have obsessive interests
• Flap their hands, rock their body, or spin in circles
• Have unusual reactions to the way things sound, smell,
taste, look, or feel
• Demonstrate repetitive or atypical play (lining up long
rows of cars, patting toys)
Early Identification of Children at Risk for ASD: Screening
American Academy of Pediatricians:12
• Screen ALL children for developmental delay: o At 9 months o At 18 months o At 24 months o At 30 months o Surveillance throughout school age years o HIGH RISK: sibling or parent with ASD,
preterm, low birth weight
Early Identification of Children at Risk for ASD: Screening Tools13, 14
Ages and Stages Questionnaires (ASQ):
o General developmental screening tool
o Parent-completed questionnaire
o P/F screen per domain: communication, gross motor, fine
motor, problem-solving, and personal adaptive skills.
Communication and Symbolic Behavior Scales (SCBS):
o Standardized tool for screening communication and
symbolic ability up to 24 months
o 1 page parent completed tool
Early Identification of Children at Risk for ASD: Screening Tools 13, 14
Parents’ Evaluation of Developmental Status (PEDS):
o General developmental screening tool
o Parent interview form
o Screens for developmental and behavioral problems
o Single response form used for all ages--may be useful as a
surveillance tool
BRIGANCE ® Early Childhood Screens:
o Teacher/parent rating forms
o Assess: language, motor, self-help, social-emotional,
cognitive domains
Early Identification of Children at Risk for ASD: Screening Tools 13, 14
Modified Checklist for Autism in Toddlers (MCHAT)
o Parent-completed questionnaire
o Designed to identify children at risk for autism in the
general population (valid from 18 months)
Screening Tool for Autism in Toddlers and Young
Children (STAT):
o Interactive screening tool designed for children with
suspected developmental concerns
o 12 activities assessing play, communication, and imitation
o Takes 20 minutes to administer
Early Identification of Children at Risk for ASD: Screening Tools 15
Screening tools no longer recommended by
the American Academy of Neurology and the Child
Neurology Society for primary care screening:
• Denver-II (DDST-II) • Revised Denver Pre-Screening
Developmental Questionnaire (R-DPDQ)
• Decreased specificity and sensitivity for ASD
Early Identification of Children at Risk for ASD: Screening Tools 13, 14
o Screening tools do not require specialized training and are recommended for use by primary care providers
o Early referral can be made to specialty practice for additional diagnostic testing:
• ADOS-G, ADI-R, CARS-2, GARS-2
Early Identification of Children at Risk for ASD: Screening Tools 13, 14
Simultaneous referral/testing: Based on individualized areas of concern without waiting for specialty practice:
• Audiology (baseline/rule out hearing impaired) • Lead screening (developmental delay/pica) • Speech Language Pathology (speech delay) • Occupational Therapy (fine motor delay) • Physical Therapy (gross motor delay) • Behavioral Therapy (ABA) (behavior concerns)
Assessment and Management of Common Concerns in ASD
• Feeding/Alteration in Nutrition
• GI Pain, Elimination, Toileting
• Sleep Disturbance
Feeding/Nutrition Issues in ASD
• Atypical feeding: identified in ASD as early as 1943
• Clinical symptoms of ASD that contribute:
o sensory issues, rigidity, social interaction deficits
• Feeding issues frequently identified by parents:
o Food selectivity (limited intake)
o Food aversions (smell, texture, color, temp, brand)
o Food refusal (preferred carbs/snacks)
o Disruptive mealtime behaviors 16
Feeding/Nutrition Issues in ASD
Long term risks of unhealthy feeding patterns in ASD: • Obesity: Recent National Health Interview Survey
(2008-2010) of over 9,500 adolescents found obesity highest in autism subgroup, with 2x higher prevalence than same-age neurotypical peers 17
• Nutritional deficiency: Meta-analysis using cumulative sample of 881 children with ASD showed:
– feeding problems were 5x more likely in children with ASD than neurotypical peers
– children with ASD had significantly lower calcium and protein intake compared to neurotypical peers18
Feeding/Nutrition Issues in ASD: Assessment
• APN assessment for this population needs to
include:16,19
o Comprehensive history--eating behaviors , diet
(?restrictive: GFCF/SF, others), pica, supplement use,
allergies, medications, past medical conditions, pain and
impaired swallow
• Use of the Brief Autism Mealtime Behavior Inventory (BAMBI) and Food Inventories
o Complete physical and neurological exam--assess
changes—pain, functionality, anemia, constipation, GI
Feeding/Nutrition Issues in ASD: Management
o Rule out physiologic/neurologic/allergic conditions:
• impaired chewing/swallowing, reflux, food allergy, obstruction
o Consider labs for suspected deficiency/MVI use:
• CBC, calcium, protein
o Track:
• height, weight, growth velocity, and eating patterns
o Counsel families on nutrition/mealtime behaviors:
• establish routine, consistent expectations, repeated reintroduction of non-preferred foods, pairing preferred with non-preferred foods, establishing behavioral limits, stretch dietary repertoire
o Refer to appropriate resources
• Nutrition, Behavioral, GI 16,19
Common GI Problems, Elimination, and Toileting Issues in ASD
Increased behavioral problems in ASD may have roots in physiologic causes, especially GI:
• Withholding patterns • Abdominal pain • Constipation/Encopresis • Diarrhea • Gastroesophageal reflux • Food allergies
GI dysfunction may occur in 9-70% of children with ASD16,20
Common GI Problems, Elimination, and Toileting Issues in ASD
• Evaluation of GI problems may be
complicated by communication deficits and
inability to localize pain symptoms
• Presentation may be atypical
• Change in behavior may be the only clue to underlying pathology16,20
Common GI Problems: Withholding Behavior in ASD
Withholding behavior can contribute to abdominal pain, constipation, encopresis, and urinary tract problems. Common triggers include:
• Unfamiliar environment • Aversive stimuli • Change associated with sensory
issues (from diaper to open air) • Change in routine • Pain secondary to constipation
Common GI Problems: Abdominal Pain in ASD
Abdominal pain behaviors in children with ASD can present typically or as:
Vocalizations:
• Frequent throat clearing, swallowing, tics, spitting
• Sobbing for no reason, sighing, whining, moaning, groaning
• Delayed echolalia with reference to stomach or tummy
• Direct verbalizations of pain with pointing (“ow”, “ouch”, “bad”) 20
Common GI Problems: Abdominal Pain in ASD
Abdominal pain behaviors in children with ASD can present typically or as:
Motor behaviors:
• Grimacing, wincing, teeth gritting • Constant eating/drinking (“grazing”) • Mouthing behavior: chewing shirts,
clothes, toys, pica • Applying pressure to abdomen • Unusual posturing (jaw thrust, back
arching, etc.) • Aggression, self-injury20
Common GI Problems: Abdominal Pain in ASD
Abdominal pain behaviors in children with ASD can present typically or as:
Changes in Overall State:
• Increased difficulty sleeping • Increased irritability • Increased agitation • Food aversion • Noncompliance with demands that
generally were done with appropriate response (increased oppositional behavior)20
Common GI Problems: Constipation in ASD
Constipation is the most common GI complaint in children with ASD and is exacerbated by diet. Consider when:
• Straining or infrequent stool • New onset of diarrhea or fecal
incontinence (encopresis) • New self-injurious behavior, tantrums,
aggression, oppositional behavior • New problem behaviors with meals • Abdominal discomfort, bloating,
flatulence20
Common GI Problems in ASD: Assessment
ALL potential GI symptoms warrant thorough evaluation:16,20
o Comprehensive history--eating behaviors , change
in general behavior, diet (restrictive: GFCF/SF, others),
pica, supplement use, allergies, medications, past medical
conditions, pain, impaired swallow, nausea,
vomiting, bowel, bladder patterns, toileting and
sleep behaviors.
o Complete physical and neurological exam--assess
changes—pain, functionality, wt change, GI signs,
impaction, rectal bleeding.
Common GI Problems: Management by Symptoms Consider for DD and management: o Constipation: Hard infrequent stool, straining
behavior, prolonged BR time, perceived abdominal discomfort, self injury, tantrums, oppositional behavior, flatulence, bloating
o RED FLAGS: fever, distension, n/v, anorexia, wt loss/gain
• Labs: TSH, T4, calcium, lead, celiac screen; trial of PEG; diet enhancements (fruit, fiber, fluids); bowel training; abdominal radiograph
• Refer to appropriate resources—GI, Nutrition, Behavioral 16,20,21
Common GI Problems: Management by Symptoms Consider for DD and management: o Diarrhea (chronic > 3 stools/d x2wks):
Overflow (encopresis), malabsorption, maldigestion, ulcerative colitis, food allergy
• Allergy panel, celiac panel, stool for occult blood, enteric pathogens/parasites (Giardia, Cryptosporidium, C. difficile); trial of PEG if suspected overflow diarrhea; lactose breath test; EGD or colonoscopy
• Refer to appropriate resources—GI, Nutrition, Behavioral16,20
Common GI Problems: Management by Symptoms Consider for DD and management: o GERD: Sleep disturbance, self-
injurious/aggressive/oppositional behavior, perceived abdominal discomfort, food aversion. Consider gastritis and intestinal inflammation.
• Trial of PPI; may require pH probe, EGD • Refer to appropriate resources—GI, Nutrition,
Behavioral 16,20
Common GI Problems: Toileting
When counseling parents, be aware:
• Most children with ASD learn to urinate and have BMs in the toilet later than other children (6+ years is not unusual)
• Children with ASD may take years to achieve bladder/bowel control
• Each child is different--understand the reasons why each child might be having difficulty22
Common GI Problems: Toileting
Toileting Barriers in ASD:
• Physical or medical issues (neuro, GI) • Language deficits in expressing need • Dressing/fine motor coordination • Fear (flushing noise, sitting on toilet) • Body cues (inability to sense need to go) • Change in routine (from diaper to toilet) • Change in environment (public toilet) • Aversive sensory stimuli23
Common GI Problems: Toileting
Management Strategies:
• Rule out medical reasons for toileting issues (obstruction, neurological)
• Reassure parents--keep trying!!!! • Direct parents to appropriate resources:
– Autism Speaks/ATN • Refer for OT or Behavioral Assistance23
Sleep Disturbance in ASD
o Problems with sleep latency and night waking seen in 50-80% of school aged population with ASD
o Chronic insomnia may be 10x higher in ASD
o Sleep problems may increase rather than decrease as children grow older24
Sleep Disturbance in ASD
o Overlap of neurobiological factors seen in
both sleep disturbance and ASD
o Abnormalities in:
• GABA (an inhibitory neurotransmitter) • Melatonin (a brain hormone associated
with circadian sleep-wake cycles)24
Sleep Disturbance in ASD
Sleep disturbance is linked to:24
• Worsened daytime behaviors – Anxiety, aggression, tantrums
• Increased core symptoms – Stereotyped behavior, communication
deficit, ASD severity25
• Disrupted family function and caregiver
stress
Sleep Disturbance in ASD: Assessment
• Ask parents about: o Bedtime/bedtime rituals (parents needed?) o Sleeping arrangements o Patterns: latency, duration, night waking o Medications/supplements for sleep o Breathing problems, snoring, HEENT issues o Daytime sleepiness/increased behaviors
• Assessment tools: Children’s Sleep Habits
Questionnaire (CSHQ) 26
Sleep Disturbance in ASD: Management
o Rule out physiologic causes:
• Tonsils/adenoids, ears/sinus/nasal, OSA, GERD
o Sleep Hygiene:
• Routine, limit stimuli before bed (TV, computer, food, fluids, caffeine)
• Get out of bed after 15-20 min; OOB relaxing activity • Consider noise disturbance, use of white noise
o Nonbehavioral interventions:
• Consider melatonin (no standard dose: adult dose is 3.5 mg at hs – varies per individual, dark is important)
• Specialty provider: centrally acting alpha agonists • Diphenhydramine not generally effective/rebound
o Refer to appropriate resources
• ENT/GI, Sleep Study, Behavioral 24
Co-Management of Medications Used in Specialty Practice for ASD
o Limited FDA approved pharmacological interventions specifically for ASD
• There are currently TWO
o Both are atypical neuroleptics with SE profiles that impact primary care:
• aripiprazole (for irritability) • risperidone (for irritability)
o NPs: specialty care prescribed with collaborative management9
Co-Management of Medications Used in Specialty Practice for ASD
o Off-label medications used in specialty care:
• SSRIs (anxiety, depression, obsessive-compulsive behaviors)
• Stimulants (hyperactivity, inattention, impulsivity)
• Centrally acting alpha-2 adrenergic agonists (clonidine, guanfacine) (tic reduction, hyperactivity, impulsivity)
• Nonstimulant alternatives (atomoxetine) (hyperactivity, impulsivity, inattention)9
Medications in Specialty Practice for ASD: Primary Care Concerns
o Atypical Neuroleptics: Consider risk for metabolic syndrome—Ht, Wt, BMI, truncal obesity, BP, P; Labs: CBC, CMP, lipids, prolactin levels, HgbA1C
o SSRIs: Consider black box warnings for SI/SA in peds; may cause disinhibition, HA, GI SEs, wt gain, insomnia, serotonin syndrome (small risk); taper to avoid withdrawal sx9
Medications in Specialty Practice for ASD: Primary Care Concerns
o Stimulants: Consider appetite suppression, weight loss, mild growth suppression—Ht, Wt, BMI, BP, P, tics; consider cardiac evaluation for (+) family/personal hx
o Centrally acting alpha-2 adrenergic
agonists: Consider sedation, hypotension, bradycardia, constipation, drymouth, increased appetite—Wt, BMI, BP, P9
Medications in Specialty Practice for ASD: Primary Care Concerns
o Nonstimulant alternatives (SNRIs): (atomoxetine) SEs similar to stimulants (excluding tics); SEs may also include cough, dizziness, hepatotoxicity, and small risk of SI/SA—Ht, Wt, BMI, BP, P, LFTs 9
o Collaborative care is critical to our ability to manage these patients in primary care!
Last But Not Least—Support Families and Caregivers
o Knowing available community resources is essential (delays and wait times matter)
o Caregiver strain is HUGE in this population o Families are struggling to find support and
guidance—we often find it from other parents o NPs are ideally suited to help in key areas
primary care management, educational support and access to community resources
Community Resources for ASD
o Regional Center of Orange County (RCOC)
o UCI Center for Autism and Neurodevelopmental Disorders
o CHOC Early Developmental Assessment Center o Help Me Grow o Early Childhood Education Programs (IUSD,
SVUSD, Costa Mesa, others) o United Cerebral Palsy (UCP), Irvine
Conclusion: ASD and Primary Care
• Primary care NPs are critical to:
o Early identification/referral
o Management of key areas of concern
• Nutrition • GI symptoms • Toileting • Sleep
o Collaborative management
o Supporting families
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