AUTISM

Lucy Pitts, BSN, RN

and

Charlene Baldwin, BSN RN

OBJECTIVES

Define Autistic spectrum disorder and its relevance to children’s health

Review AAP recommendations for Health Supervision

How is the diagnosis made?Prenatal visitHealth supervision specific for this group of

children (Periodicity Schedule-what additional supervision is needed)

Discuss patient education materials and community resources, citing specific sources and examples

Define relevance of this topic for clinical NP practice

DEFINE AUTISM AND ITS RELEVANCE TO CHILDREN’S HEALTH

Autism spectrum disorders (ASD): Group of biologically based neurodevelopmental disorders characterized by impairments in three major domains:

SocializationCommunicationBehavior

Relevance to children’s health:Occurs 1 in 88Life long disabilityNo cure; early intervention help minimize or

avoid behavior problemsAffects male more than female. All races and

ethnicity

THE SPECTRUM NATURE OF AUTISM

Varies in severity of symptoms, age of onset, and association with other disorders

No single behavior that is always typical or present in every individual

Manifestations vary across children and within an individual over time

Innumerable combinations of possible symptoms

TYPES OF ASD

Pervasive developmental disorders (PDD)Autistic; classic autismAsperger; asperger syndrome

Pervasive developmental disorder not otherwise specified (PDD-NOS); typical autism

OthersRett disorderChildhood disintegrated disorder

ASPERGER SYNDROME

Milder symptoms of autistic disorderImpairment in social interactionUnusual behavior and interestsRestricted repetitive and stereotyped

patterns of behaviorNo language delaysNo intellectual disability

Ratio: 7-10 males to 1 female

PDD-NOS

Fewer autistic symptomsMilder autistic symptomsSymptoms might cause only social and

communication challengesNot meet criteria for specific PDD: Some of

the criteria but not sufficient for autistic disorder

Rett SyndromeCharacterized by specific pattern of loss of

skills: Social and motorOnset after a period of normal developmentOccurs almost exclusively in girls

CHILDHOOD DISINTEGRATIVE DISORDERVery rare disorder (5 in 10000)Normal development in first 2 years of

lifeLoss of previously acquired skills

before the age of 10Regression may occur over weeks or

monthsAt least 2 of the 3 main traits

associated with autism disorderOften overlaps with severe mental

retardation or seizureRate of deterioration is slow

AUTISMClassic autismSignificant language delays, social,

and communication challengesImpaired reciprocal social interactionUnusual behaviors and interests:

Restricted repetitive or stereotyped behaviors

Intellectual disability

Manifestations of disorder in each of the three areas are required for diagnosis

AUTISM

AUTISM

Onset prior to chronological age of 3 years

Development is uneven with occasional talent in a limited area, coupled with severe deficit in other areas

Varies in severity

Many children will have other impairments such as mental retardation or seizures

ETIOLOGY

Genetic 10%: Fragile X syndromePrenatal infections: Congenital rubella,

cytomegalovirusNeonatal infectionsPhenylketonuriaFetal alcohol syndromeEnvironmental

Most cases cause is unknownRatio: Male to female 2.8 to 5.5:1

CLINICAL PRESENTATION: INFANTS

Passive; nonengaging, quiet, and floppy

Difficulty; colicky, stiff with poor eye contact

Attachment problems appearFailure to respond to name or gestures

Usually autism is not identified in infancy although some development problems especially in the social area are emerging

CLINICAL PRESENTATION: TODDLERS

Language: Expressive language is delayedSocially: exhibits detachment, decreased eye

contact, a lack of fear, and poor creative social skills

Behavior: Tantrums that persist: repetitive movements; a preference to line, stack, or spin toys, and insistence on routines

Use of echolalia is persistent

CLINICAL PRESENTATION: PRESCHOOLERSLanguage: Lack of meaningful speech,

decreased gestures, and gaze disturbancesSocial: Lack of fears of strangers, invasion of

others territory, preference to be alone, and lack of social awareness

Behavior: Persistence and insistence behavior. Symbolic play is limited

The child may have precocious or average development of rote memory skills but often without comprehension of concepts

SYMPTOMS

Does not respond to name by 12 months

Does not point at objects to show interest by 14 months

Does not play pretend game by 18 months

Avoidance of eye contact and wants to be alone

Have delayed speech and language skills

Repeat words or phrases over and over (echolalia)

SYMPTOMS

Gives unrelated answers to questionsHas obsessive interestsFlap their hands, rock their body or

spin in circlesHas unusual reactions to the way

things sound, smell, taste, look, or feelGets upset by minor changesHas trouble understanding other

people's feelings and talking about their own feelings

AAP RECOMMENDATIONS FOR HEALTH SUPERVISION

Conduct developmental assessment at every well-child visit

Screen at 18, 24 months, and any other time when parents raise concern

If an autism specific screening result is negative but parents, caregiver, or clinician remain concern then clinician is to schedule a targeted clinic visit to address persistent concerns

Immediately action on positive screening results

HOW IS DIAGNOSIS MADE

History:

Prenatal/neonatal history

Developmental history

Family history: May reveal other member with ASD, speech delay, language deficit, mood disorder or mental retardation

Review of system should investigate seizures, head injury, hearing loss, and meningitis

RED FLAG FOR AUTISM SCREENING Failure to meet childhood developmental milestones

Sibling with autism

Problems with eye contact

Does not respond to name

No babbling or gesturing by 12 months

No single word by 16 months

No two words (not echolalic) phrases by 24 months

Loss of any language or social abilities at any age

DIAGNOSTIC CRITERIA: DSM-IV-TR

A. A total of six (or more) items from 1, 2, and 3, with at least two from 1, and one each from 2 and 3:

1. Qualitative impairment in social interaction as manifested by:

Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction

Failure to develop peer relationships appropriate to developmental level

A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (for example, by a lack of showing, bringing, or pointing out objects of interest)

Lack of social or emotional reciprocity

DIAGNOSTIC CRITERIA: DSM-IV-TR2. qualitative impairments in communication as

manifested by:

Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gestures or mime)

In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others

Stereotyped and repetitive use of language or idiosyncratic language

Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

DIAGNOSTIC CRITERIA: DSM-IV-TR

3. restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as manifested by:

Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus

Apparently inflexible adherence to specific, nonfunctional routines or rituals

Stereotyped and repetitive motor mannerisms (for example, hand or finger flapping or twisting, or complex whole-body movements)

Persistent preoccupation with parts of objects

DIAGNOSTIC CRITERIA: DSM-IV-TR

B. Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years:

Social interaction

Language as used in social communication Symbolic or imaginative play

C. The disturbance is not better accounted for by Rett’s disorder or childhood disintegrative disorder.

HOW IS DIAGNOSIS MADE

Physical examination:Check for general appearance of genetic

syndromes and neurologic findings of focal abnormalities

Tests:Developmental surveillanceBehavior assessment: MCHAT questionnaireAudiology evaluationVisual evaluationLead toxicityChromosomal analysis

DIFFERENTIAL DIAGNOSIS

ADHDMental retardationObsessive compulsive disorderSchizoaffective disorderBipolar disorder

Management

The goals of treatment are to maximize functioning, move the child toward independence, and improve the quality of life.

Specific strategies that address the core deficits of autism seek to:

Improve social functioning and play skillsImprove communication skills (both

functional and spontaneous)Improve adaptive skillsDecrease nonfunctional or negative

behaviorsPromote academic functioning and cognition

ManagementSpecialist involvement: Children with a diagnosis of

autism should have ongoing follow-up with a specialist (e.g., developmental and behavioral pediatrician, neurologist, psychologist, psychiatrist) or a team of providers who can monitor progress, provide recommendations for behavioral programming, and screen for medical concerns.

The initial management team of providers may include Developmental pediatrician, child neurologist, child

psychiatristPsychologist or neuropsychologistGeneticist or genetics counselorSpeech language pathologistOccupational therapistAudiologistSocial worker

Comorbidities Medical disorders: seizure, genetic disorders,

lead poisoning Developmental and mental health:

Hyperactivity, anxiety, depression, social phobia

Gastrointestinal problems: Constipation, feeding

Skin disorders: Dermatitis, eczema

Delays in acquisition of self help skills: Toileting, dressing, hygiene

PRENATAL VISIT

Assess the health of pregnant woman

Education: Developmental brain abnormalities occurs during first and second trimesters

Environmental factors

Maternal illness

Health Supervision specific for Autistic childrenMaintaining optimal health with

immunizations and routine well child office visits

Treat acute illnesses ie: URI, UTI, OM, and abd pain etc.

Monitor comorbidities such as seizures, psychiatric disorders, and lead blood levels

Medications are usually prescribed for hyperactivity, affective difficulties ( anxiety, depression) and attention difficulties

Common for GI problems; constipation or diarrhea, addressed in office or a GI consult if unsuccessful

Health supervision of Autistic children

Yearly eye exams are recommended to optimize vision

Hearing should be tested at birth and when r/o ASD

Multiple therapies for an autistic child are integrated as early as possible for optimal development and independence

Cotherapies include: speech, occupational, sensory integration, and social skills

Habilitative therapies address social skills, ADL's, play and leisure skills, communication, academic skills and maladaptive skills

Health Supervision of Autistic children

The key to the health maintenance of an autistic child is the parents and extended family. Their care, education, and training

Educating the parents and teaching them how to take care of their child is the most important for the success of the child

Family counseling, support and training is extremely important to the development of an autistic child

Long term care may need to be addressed as an adolescent depending on their level of function

Continuous developmental and IQ testing through the ages of 3-25years is recommended

Relevance to NP PracticeThe NP may be the first contact that screens

for autismNP is trained and educated in screening for

autismThe NP can be the home base to manage the

autistic childYearly well child visits can be managed by

the NPAdditional referrals for therapies can be

initiated by the NPProgress can be documented by the NPAcute illnesses can be managed by the NPOptimizing the autistic child's medical care

by the NP maximizes the quality of life for the child

The NP can facilitate education, training and support for parents and family

Relevance to NP PracticeClinical judgement by the NP for diagnosis is

extremely important due to the challenge of no lab test for autism

Key to success of an Autistic child is; early diagnnosis, prompt referral and early intervention, all done by NP

Early diagnosis is relevent for future conception of siblings

Nurse Practitioners can provide medical home base and coordinate systems of care.

Education Materials

Autistic Society of America:http://www.autism-society.org

Several links for other sites are connected on this website

Phoenix Autism: wwwphxautism.org/National Autism Association:

Nationalautismassociation.org/Cafe Mom: www.cafemom.com/Autism-SupportPhoenix Childrens Hospital

www.phoenixchildrens.com/physician.../resources/autism.html

Raising Special Kids: raisingspecialkids.org

Conclusion

Defined Autistic Spectrum Disorder and its Defined Autistic Spectrum Disorder and its relevance to childcare’s healthrelevance to childcare’s health

Reviewed AAP recommendations for Health Reviewed AAP recommendations for Health SupervisionSupervision

Discussed how ASD diagnosis is madeDiscussed how ASD diagnosis is made Prenatal visitPrenatal visit Health supervision specific for Autistic children Health supervision specific for Autistic children

(Periodicity Schedule-what additional supervision (Periodicity Schedule-what additional supervision is needed)is needed)

Discussed patient education materials and Discussed patient education materials and community resources, citing specific sources and community resources, citing specific sources and examplesexamples

Define relevance of this topic for clinical NP Define relevance of this topic for clinical NP practicepractice

Questions?

http://www.cbsnews.com/video/watch/?id=7414970n&tag=mncol;lst;2

References Al-Qabandi, Mona, Gorter, Jan Willem and Rosenbaum,

Peter. Early Autism Detection: Are We Ready for Routine Screening? Pediatrics 2011;128;e211; originally published online June 13, 2011; DOI: 10.1542/peds.2010-1881

Autism Society of America (2006). All about autism. Retrieved from http://www.autism-society.org/site/PageServer?pagename=allaboutautism

Augustyn, M (2012). Diagnosis of autism spectrum disorders. Retrieved from www.uptodate.com.ezproxy.apollolibrary.com/contents

Baron-Cohen, S. (2004). The cognitive neuroscience of autism. Journal of Neurology Neurosurgery and Psychiatry, 75, 945-948. Retrieved from the Gale Group database.

Bridgemohan, C (2012). Screening tools for autism spectrum disorders. Retrieved from www.uptodate.com.ezproxy.apollolibrary.com/contents/

References Burns, C. E., Dunn, A. M., Brady, M. A., Starr, N.

B., and Blosser, C. G (2009). Pediatric Primary Care 4th ed. St Louis, Missouri. Saunders Elsevier.

Help Group; The autism facts (2008). Retrieved from The California Legislative Blue Ribbon Commission on Autism website: http://senweb03.senate.ca.gov/autism/ index.html

Johnson, C. P., Myers, S. M., and The council on children with disabilities (2007). Retrieved from http//:aappolicy.aappublicatins.org/cgi/content/full/pediatrics;128/5/e1321?rss=1

References Johnson, C. P., Myers, S. M., Identification and

Evaluation of Children With Autism Spectrum Disorders (2007) Pediatrics 2007;120;1183; originally published online October 29, 2007; DOI: 10.1542/peds.2007-2361

Weissman, L., and Bridgemohan, C (2012). Autism spectrum disorders in children and adolescents: Overview and management. Retrieved from www.uptodate.ezproxy.apollolibrary.com/contents/