caring for children with autism spectrum disorder and/or
TRANSCRIPT
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Caring for Children with Autism
Spectrum Disorder and/or Intellectual
Disability in the Primary Care Setting
Barbara S. Saunders, DO, FAAPAssociate Professor, Pediatrics
Chief, Division of Child Development
Executive Director, Center for Developmental Outcomes Research
Chief, Branch for Funding & Development, Pediatric Discovery EnterpriseDirector, Resident & Medical Student Education, Division of Child Development
Center for Advancement of Youth (CAY)
University of Mississippi Medical Center
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Disclosures
▪ I have no relevant financial disclosures.
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Objectives
▪ Autism Spectrum Disorder (ASD) and Intellectual
Disability (ID)
• Discuss why it’s important for PCP’s to be able to recognize ASD
and ID.
• Discuss DSM-5 criteria for ASD and ID
• Discuss the PCP’s role in the management of ASD and ID
• Discuss the medical workup of ASD and ID
• Discuss resources for PCPs related to ASD and ID
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Recognizing ASD
▪ Why is it important?
• As PCPs, you WILL see patients and/or families affected by ASD.
– ASD affects > 5 million Americans1
▪ About 2% of children in the US
– Care needs affect parents/caregivers, sibs as well
▪ Needs require substantial community resources
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Recognizing ASD
▪ Why is it important?
• The cost to our healthcare system is HUGE!
– Direct + indirect costs in US in 2015 = $268 billion2
▪ More than cost of stroke + HTN combined
– Lifetime cost of education, health, other services for individual with ASD
$1.4 – $2.4 million3
▪ Cost higher if co-occurring ID present4
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Recognizing ASD
▪ Why is it important?
• “ To deliver timely and effective medical, behavioral,
educational, and social services across the lifespan means that
primary care providers must understand the needs of
individuals with ASD and their families.”5
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Recognizing ASD
▪ What to look for – DSM-5 dx criteria:6
• Social and communication impairment
• Restricted or repetitive behaviors, interests, and/or activities
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Recognizing ASD
▪ Social and communication impairment
• Deficits in social-emotional reciprocity6
– ability to have back-and-forth conversations
– initiate or respond to social interactions
– share enjoyment, emotions, and/or affect
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Recognizing ASD
▪ Social and communication impairment
• Deficits in nonverbal communicative behaviors6
– integration of verbal and nonverbal communication
– eye contact
– body language and facial expressions
– understanding and/or using gestures
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Recognizing ASD
▪ Social and communication impairment
• Deficits in developing, maintaining, and understanding
relationships6
– adjusting behavior to suit various contexts
– sharing in imaginative play
– making friends/interests in peers
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Recognizing ASD
▪ Restricted or repetitive behaviors, interests, and/or
activities6
• Stereotypies and repetitive movements, use of objects, or
speech
– hand flapping, toe walking, spinning, rocking
– lining up or sorting toys/objects, spinning wheels
– echolalia, scripted speech, idiosyncratic phrases
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Recognizing ASD
▪ Restricted or repetitive behaviors, interests, and/or
activities6
• Insistence on sameness, inflexible adherence to routines,
ritualized behavior
– distress at small changes
– difficulty with transitions
– rigid patterns of thinking
– going same route or eating same food everyday
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Recognizing ASD
▪ Restricted or repetitive behaviors, interests, and/or
activities6
• Restricted/fixated interests (abnormal in intensity or focus)
– strong attachment to unusual objects
– perseverative interests
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Recognizing ASD
▪ Restricted or repetitive behaviors, interests, and/or
activities6
• Hyper- or hypo-reactivity to sensory input/unusual interest in
sensory aspects of environment
– indifference to pain/temperature
– adverse response to certain sounds, textures, etc.
– unusual smelling/touching of objects
– fascination with lights or movement
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Recognizing ASD
▪ Sx must be present in early developmental period
• No age max for making dx
▪ Sx must cause clinically significant impairment
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Recognizing ASD
▪ Sx not better explained by ID or global DD
• To dx ASD and ID/global DD comorbidly, social communication
should be below what’s expected for developmental level
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PCP’s role in management of ASD
▪ Use screening and surveillance in order to allow for
accurate dx as early as possible
• Surveillance – asking about milestones and parental concerns,
making informal observations
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PCP’s role in management of ASD
▪ Use screening and surveillance in order to allow for
accurate dx as early as possible
• Screening – using formal screening measure
– General developmental screening: 9, 18, and 30 mo/o
– ASD specific screening: 18 and 24 mo/o
▪ Modified Checklist for Autism in Toddlers – Revised (M-CHAT-R), Ages & Stages
Questionnaire: Social-Emotional (ASQ:SE-2)
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PCP’s role in management of ASD
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PCP’s role in management of ASD
▪ Respond appropriately to family and/or clinical concerns
as well as results of developmental screening
▪ Refer to specialist(s) for formal evaluation when
indicated
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PCP’s role in management of ASD
▪ Be familiar with co-existing medical and developmental-
behavioral conditions
• Be willing to manage (with assistance of specialists if
necessary) less complex co-existing conditions– ADHD
– Anxiety, depression,
– Irritability, mood lability
– Sleep disturbances
– Feeding difficulties
– Seizures, other neurological d/o’s
– Constipation, other GI d/o’s
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PCP’s role in management of ASD
▪ Be familiar with educational, therapeutic, and
community needs of children, youth, and adults with ASD
• Be familiar with local resources to meet above needs
– Early intervention
– Special education
– ST, OT, PT
– ABA therapy
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PCP’s role in management of ASD
▪ Serve as medical home
• Assist in coordinating medical and therapeutic services
• Educate families about evidence base for interventions
• Refer to support agencies when needed
• Assist families/youth with planning transition to adult
healthcare and behavioral health services
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Medical evaluation of ASD
▪ Chromosomal microarray5
• Karyotype and certain FISH studies now limited to specific
clinical situations in which specific condition suspected (e.g.
Trisomy 21, Williams syndrome)
▪ Fragile X DNA probe
▪ MECP2 sequencing and del/dup analysis
• Females
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Medical evaluation of ASD
▪ Screening for metabolic d/o’s5
• Yield lower in children with ASD only than in children with ID
(+/- ASD)
• Not recommended for first line/regular use
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Medical evaluation of ASD
▪ MRI brain
• If macrocephaly, microcephaly, significant neuro
deficits/abnormal neuro exam
▪ EEG
• If hx of/suspicion of seizures, true regression
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ASD resources for PCPs
▪ Caring for Children With Autism Spectrum Disorder: A
Practical Resource Toolkit for Clinicians, 3rd edition
• https://toolkits.solutions.aap.org/autism/home
▪ US Department of Education – IDEA page
• https://sites.ed.gov/idea/
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ASD resources for PCPs
▪ ECHO Autism
• https://echoautism.org/
▪ Autism Speaks
• https://www.autismspeaks.org/
▪ CAR Autism Roadmap
• https://www.carautismroadmap.org/
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Recognizing ID
▪ Why is it important?
• As PCPs you WILL see patients with ID
– ID occurs in about 1-3% of the population7
– About 2/3 of children dx’d with global developmental delay (GDD) will
eventually be dx’d with ID.
• Care needs affect parents/caregivers, sibs as well
– Needs require substantial community resources
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Recognizing ID
▪ Why is it important?
• The cost to our healthcare system is significant.
– Costs increase in adulthood
– In 2015 disability-related healthcare expenditures made up 36% of all
healthcare expenditures for adults in US8
▪ Total cost to healthcare system = $868 billion
» Medicare paid $324.7 billion
» Medicaid paid $277.2 billion
» Non-public sources paid $266.1 billion
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Recognizing ID
▪ Why is it important? • “The AAP and the US Department of Health and Human Services through
its Healthy People 2010 have recommended that children, especially those
with special health-care needs, which includes ID, receive ‘regular,
ongoing, comprehensive care within a medical home.’ In the medical
home model of care, the pediatrician (PCP) in collaboration with other
medical subspecialists and professionals such as social workers and
community health workers work as a team in the care of children with
special needs, who, in addition to their primary disability, may have
significant comorbid medical and psychiatric conditions and family
challenges.”7
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Recognizing ID
▪ What to look for – DSM-5 dx criteria6
• Deficits in intellectual functions
• Deficits in adaptive functioning
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Recognizing ID
▪ Deficits in intellectual functioning6
• Reasoning, problem solving, planning, abstract thinking,
judgement, academic learning, learning from experience
• Confirmed by clinical assessment and individualized,
intelligence testing.
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Recognizing ID
▪ Deficits in intellectual functioning7
LEVEL OF ID (% CHILDREN WITH ID)
ASSOCIATED ESTIMATED IQ SCORE
PROJECTED ULTIMATE ACADEMIC ACHIEVEMENT
Mild (85%) 55–70 Up to sixth-grade level
Moderate (10%) 40–55 Up to second-grade level
Severe (3%–4%) 25–40 Preschool level
Profound (1%–2%) <25 --
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Recognizing ID
▪ Deficits in adaptive functioning6
• Result in failure to meet developmental and sociocultural
standards for personal independence and social responsibility
• Without ongoing support, limit functioning in 1+ ADL(s) across
multiple environments
– Communication, social participation, independent living
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Recognizing ID
▪ Deficits in adaptive functioning7
LEVEL OF ID (% CHILDREN WITH ID)LEVEL OF SUPPORT (IN CONCEPTUAL,
SOCIAL, PRACTICAL DOMAINS)
Mild (85%) Intermittent
Moderate (10%) Limited
Severe (3%–4%) Extensive
Profound (1%–2%) Pervasive
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Recognizing ID
▪ Onset of intellectual and adaptive deficits during
developmental period6
▪ Likelihood of identifiable etiology (genetic, metabolic,
environment, traumatic, neurological) increases as
severity of ID increases
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Recognizing IDCommon etiologies of ID7
Genetic syndromes
chromosomal disorders (e.g. Trisomy 21, Trisomy 18)
contiguous gene deletions (e.g. Williams syndrome, Angelman syndrome)
single-gene deletions (e.g. fragile X syndrome, Rett syndrome)
Environmental causes
alcohol and other teratogens
prenatal infections
early childhood CNS infections
TBI
CNS disorders/malformations
Inborn errors of metabolism
Nutritional (e.g. severe malnutrition, chronic iron deficiency)
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PCP’s role in management of ID
▪ Use screening and surveillance in order to allow for
accurate dx as early as possible
• Screening – using formal screening measure
– General developmental screening: 9, 18, and 30 mo/o
▪ Ages & Stages Questionnaire (ASQ-3), Pediatric Evaluation of Developmental Status
(PEDS), Denver Developmental Screening Test-II (DDS-II)
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PCP’s role in management of ID
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PCP’s role in management of ID
▪ Respond appropriately to family and/or clinical concerns
as well as results of developmental screening
▪ Refer to specialist(s) for formal evaluation when
indicated
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PCP’s role in management of ID
▪ Be familiar with co-existing medical and developmental-
behavioral conditions
• Be willing to manage (with assistance of specialists if
necessary) less complex co-existing conditions– ADHD
– Anxiety, depression
– Irritability, mood lability
– Sleep disturbances
– Seizures, CP, other neurological d/o’s
– Constipation, other GI d/o’s
– Respiratory d/o’s
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PCP’s role in management of ID
▪ Be familiar with educational, therapeutic, and
community needs of children, youth, and adults with ID
• Be familiar with local resources to meet above needs
– Early intervention
– Special education
– ST, OT, PT
– Adaptive recreation
– DME
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PCP’s role in management of ID
▪ Serve as medical home
• Assist in coordinating medical and therapeutic services
• Advise families on educational rights and services
• Educate families about evidence base for interventions
• Refer to support agencies when needed
• Assist families/youth with planning transition to adult
healthcare and behavioral health services
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Medical evaluation of ID9
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Medical evaluation of ID
▪ Chromosomal microarray9
• Single most efficient dx test
– Dx yield about 12% for patients with ID/GDD
▪ Fragile X DNA probe
▪ MECP2 sequencing and del/dup analysis
• Females
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Medical evaluation of ID
▪ Screening for inborn errors of metabolism9
• Blood
– Amino acids, acylcarnitine panel, creatine/GAA
• Urine
– Organic acids, purine pyrimidine panel, creatine/GAA
▪ Reflex TSH
▪ Lead
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Medical evaluation of ID
▪ MRI brain
• If macrocephaly, microcephaly, significant neuro
deficits/abnormal neuro exam
▪ EEG
• If hx of/suspicion of seizures, true regression
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ID resources for PCPs
▪ US Department of Education – IDEA page
• https://sites.ed.gov/idea/
▪ American Academy of Child & Adolescent Psychiatry
• https://www.aacap.org/AACAP/Resources_for_Primary_Care/H
ome.aspx?hkey=59bfdf7f-149f-43fd-babb-a6a77c5e8caf
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ID resources for PCPs
▪ Healthychildren.org – info for parents
• https://www.healthychildren.org/English/health-
issues/conditions/developmental-
disabilities/Pages/Intellectual-Disability.aspx
▪ CDC – Child Development page
• https://www.cdc.gov/ncbddd/childdevelopment/screening-
hcp.html
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Questions?
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References
1. Maenner MJ, Shaw KA, Baio J, et al. Prevalence of autism spectrum disorder among children aged 8 years – autism and developmental disabilities monitoring network, 11 sites, United States, 2016. MMWR Surveill Summ. 2020 Mar 27; 69(4): 1–12
2. Leigh JP, Du J. Brief report: forecasting the economic burden of autism in 2015 and 2025 in the United States. J Autism Dev Disord. 2015;45(12):4135-4139
3. Buescher AV, Cidav Z, Knapp M, Mandell DS. Costs of autism spectrum disorders in the United Kingdom and United States. JAMA Pediatr. 2014;168(8):721-728
4. Saunders BS, Tilford JM, Fussell JJ, et al. Financial and employment impact of intellectual disability on families of children with autism. Fam Sys Health. 2015 March;33(1):36-45
5. Hyman SL, Levy SE, Myers SM, AAP Council on Children with Disabilities, Section on Developmental and Behavioral Pediatrics. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020;145(1):e20193447
6. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (DSM-5), 5th Ed. Washington, DC: American Psychiatric Association; 2013.
7. Purugganan O. Intellectual Disabilities. Pediatrics in Review. June 2018; 39(6):299-309
8. Khavjou OA, Anderson WL, Honeycutt AA, et.al. State-level health care expenditures associated with disability. Public Health Reports. Mar 2021; 33354920979807. doi: 10.1177/0033354920979807 (online ahead of print)
9. Moeschler JB, Shevell M, Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. Sept 2014;134(3):e903-e918