caring for children with autism spectrum disorder and/or

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

Disclosures

▪ I have no relevant financial disclosures.

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

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

Recognizing ASD


• 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

Recognizing ASD


• “ 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

Recognizing ASD

▪ What to look for – DSM-5 dx criteria:6

• Social and communication impairment

• Restricted or repetitive behaviors, interests, and/or activities

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

Recognizing ASD


• Deficits in nonverbal communicative behaviors6

– integration of verbal and nonverbal communication

– eye contact

– body language and facial expressions

– understanding and/or using gestures

Recognizing ASD


• Deficits in developing, maintaining, and understanding

relationships6

– adjusting behavior to suit various contexts

– sharing in imaginative play

– making friends/interests in peers

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

Recognizing ASD


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

Recognizing ASD


activities6

• Restricted/fixated interests (abnormal in intensity or focus)

– strong attachment to unusual objects

– perseverative interests

Recognizing ASD


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

Recognizing ASD

▪ Sx must be present in early developmental period

• No age max for making dx

▪ Sx must cause clinically significant impairment

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

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




• 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)


▪ Respond appropriately to family and/or clinical concerns

as well as results of developmental screening

▪ Refer to specialist(s) for formal evaluation when

indicated


▪ 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


▪ 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


▪ 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

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


▪ 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


▪ MRI brain

• If macrocephaly, microcephaly, significant neuro

deficits/abnormal neuro exam

▪ EEG

• If hx of/suspicion of seizures, true regression

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/

https://toolkits.solutions.aap.org/autism/home

https://sites.ed.gov/idea/

ASD resources for PCPs

▪ ECHO Autism

• https://echoautism.org/

▪ Autism Speaks

• https://www.autismspeaks.org/

▪ CAR Autism Roadmap

• https://www.carautismroadmap.org/

https://echoautism.org/

https://www.autismspeaks.org/

https://www.carautismroadmap.org/

Recognizing ID


• 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

Recognizing ID


• 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

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

Recognizing ID

▪ What to look for – DSM-5 dx criteria6

• Deficits in intellectual functions

• Deficits in adaptive functioning

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.

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 --

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

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

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

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)

PCP’s role in management of ID



• 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)


▪ Respond appropriately to family and/or clinical concerns

as well as results of developmental screening

▪ Refer to specialist(s) for formal evaluation when

indicated


▪ 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


▪ 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


▪ 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

Medical evaluation of ID9

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


▪ Screening for inborn errors of metabolism9

• Blood

– Amino acids, acylcarnitine panel, creatine/GAA

• Urine

– Organic acids, purine pyrimidine panel, creatine/GAA

▪ Reflex TSH

▪ Lead


▪ MRI brain

• If macrocephaly, microcephaly, significant neuro

deficits/abnormal neuro exam

▪ EEG

• If hx of/suspicion of seizures, true regression

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

https://sites.ed.gov/idea/

https://www.aacap.org/AACAP/Resources_for_Primary_Care/Home.aspx?hkey=59bfdf7f-149f-43fd-babb-a6a77c5e8caf

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

https://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Intellectual-Disability.aspx

https://www.cdc.gov/ncbddd/childdevelopment/screening-hcp.html

Questions?

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

caring for children with autism spectrum disorder and/or

Documents