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Neurodevelopmental DisabilitiesNeurodevelopmental DisabilitiesSeptember 14, 2012
Jill J. Fussell, MDAssociate Professor
Developmental/Behavioral PediatricsUAMS
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Neurodevelopmental DisabilitiesNeurodevelopmental Disabilities• Overview of “normal” brain development• Case-based examples– Cerebral Palsy/impact of prematurity– Autism– Mental Retardation– Attention Deficit Hyperactivity Disorder
• The “Big-Picture”– More global, take-home points less specific to
diagnosis
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Early Brain DevelopmentEarly Brain Development• Nature vs. Nurture
– “genetic endowment” vs. environment– “disproportionate focus on birth to
three begins too late and ends too soon”
Healthy early development depends on nurturing and dependable relationshipsnurturing and dependable relationships
CultureCulture influences all aspects of early development through child-rearingchild-rearing beliefs and beliefs and practicespractices
Plasticity
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PlasticityPlasticity• The brain is “hard-wired,” at birth, yet environment
can significantly influence brain development• Malleability• Early experiences provide guidance for the cortical
architecture– builds itself in anticipation of future needs to survive and
respond in that same environment• Occurs prenatally, continues into adolescence…
adulthood?– Dynamic, nonlinear process
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PlasticityPlasticity
Birth 4 years 5 years 10 years 15 years 18 years Adult
Synaptogenesis
Synaptogenesis
Plateau, synaptic stabilization, Plateau, synaptic stabilization, overabundance of synapsesoverabundance of synapses
““Pruning” beginsPruning” begins
Plasticity diminishes
Plasticity diminishes
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http://www.loni.ucla.edu/~thompson/DEVEL/dynamic.html
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Neurodevelopmental DisabilitiesNeurodevelopmental Disabilities• Chronic disorders with primary nervous
system etiology• Varying degree of limitation to functioning
in daily living activities• Arise early in development (or trauma later
in life) and continue across the lifespan• Require array of services and advocacy to
maximize choices and promote inclusion in community life
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Cerebral PalsyCerebral Palsy
• Disorder of tone, posture and movement• Nonprogressive abnormality of the brain• Presentation affected by location and extent of
lesion in the immature brain• Exam- persistent primitive reflexes and/or lack of
development of protective responses, incr tone, incr DTR’s, clonus, upgoing Babinski
• Associated findings: strabismus, oropharyngeal problems, GERD, contractures
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Classification of CPClassification of CP
• Pyramidal– damage to motor cortex or pyramidal tract
• Extrapyramidal– damage to basal ganglia
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Brain Lesions with Associated CP PresentationBrain Lesions with Associated CP Presentation
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Primitive ReflexesPrimitive Reflexes• Automatic responses, cause change in muscle
tone and limb movement• Controlled by primitive nervous system (spinal
cord, inner ear, brain stem)• As the cortex matures, reflexes are suppressed
and integrated into voluntary movement• Present at birth, suppressed by 3-4 months, gone
by six months• Have to be gone for normal motor milestones to
occur• As primitive reflexes are integrated, postural
responses emerge
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Moro reflexMoro reflex• Birth- 4 months
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Asymmetric Tonic Neck Reflex (ATNR)Asymmetric Tonic Neck Reflex (ATNR)
• 2-4 weeks to 6 months
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Sitting/ Protective ResponsesSitting/ Protective ResponsesAnterior- 5 mos, Lateral- 7 mos, Posterior- 9 mosAnterior- 5 mos, Lateral- 7 mos, Posterior- 9 mos
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Parachute/ Protective ResponseParachute/ Protective Response9-12 months9-12 months
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Do You Think This is Cerebral Palsy?Do You Think This is Cerebral Palsy?
• You see an 8 month old born at 24 weeks.• Birth history: • birth weight:786 gm• Grade 2 intraventricular hemorrhage • ventilator for 3 weeks, home on oxygen• Developmental milestones: He rolls over but does
not sit alone. He grasps objects but does not yet transfer between hands. He babbles consonants but no words.
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• Physical exam: – He has some hypertonicity in his lower
extremities, especially his ankles. – DTRs 2-3 +– He still has Asymmetric Tonic Neck Reflex (ATNR)
and a remnant of the Moro (startle reflex). – He protects anteriorly, but not laterally, and no
parachute response.
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Suggests Cerebral Palsy…Suggests Cerebral Palsy…• Premature infant• Grade 2 IVH• Delayed motor milestones• Hypertonicity• +/- increased DTRs• Persistent primitive reflexes• Delayed postural responses
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Would I Diagnose Cerebral Palsy?Would I Diagnose Cerebral Palsy?
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Why not CP?Why not CP?• Transient tone abnormalities in premature
infants (< 1 yr)• Serial exams• Taking into account ADJUSTED age (4 months
early, adj age is 8 - 4= 4 months)– Developmental milestones– Primitive reflexes – Postural responses
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Were His Milestones Delayed?Were His Milestones Delayed?• Does roll over (4-5
months)• Does grasp objects (3-4
months)• Does babble consonants (6
months)
• Does not sit alone (6 months)
• Does not transfer between hands (6 months)
• Does not say word(s) (10-12 months)
Yes for an 8 month old but not for a 4 month oldYes for an 8 month old but not for a 4 month old
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Do You Think This Is Cerebral Palsy?Do You Think This Is Cerebral Palsy?
• You see a 15 month old born at 28 weeks• Birth history: • birth weight: 1137 gm• Grade 3 IVH • ventilator for 2 weeks, home not on oxygen• Developmental milestones: He sits alone but is not
crawling yet. He grasps objects, but with fisted grasp. He says Mama, DaDa and 2 other words. He does not jargon.
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• Physical exam: – He has some hypertonicity in his lower
extremities, especially his hips. – DTRs 3+, and clonus present. – He still has ATNR reflex. – He protects anteriorly and laterally, but no
parachute response.
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Were His Milestones Delayed?Were His Milestones Delayed?
• Does sit alone (6 mos)• Does grasp objects (3-4
mos), transfers (6 mos)• Does say MaMa, DaDa (9-
11 mos) and 2 other words (11-13 mos)
• Does not crawl (8 mos)• Does not have pincer
grasp (9-12 mos)• Does not say jargon (14-18
months)
Yes for motor skills (for 15 months AND for 12 months) although not for language skills
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This is Likely Cerebral Palsy… What now?This is Likely Cerebral Palsy… What now?
• Consider brain MRI, consider other med workup• Refer for Developmental Services– Early Intervention– Therapy (PT, OT)
• Serial Exams• Diagnose and Demystify for parents• Monitor for associated symptoms– Ongoing adjustment of intervention, modifications– Treatment of comorbidities
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Associated/Secondary ConditionsAssociated/Secondary Conditions• CNS
– Seizures – Mental Retardation– Learning Disabilities– Language Disorder– Vision and Hearing
impairments • Ortho
– Contractures – Scoliosis– Sublux/dislocation– Falls, fractures
• GI– Feeding/swallow– Drooling– Gastroesophageal reflux
Disease – Constipation
• Dental Problems• Mental Health/Well being
– Sleep Disruption– Anxiety, Stress– Depression– Fatigue
• Skin– Pressure ulcers
• Nutrition– Obesity– Failure to Thrive
• Other Medical– Respiratory complications– Infections (UTI)– Chronic Pain
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Now the “Big Picture” points of this case…Now the “Big Picture” points of this case…
• Early Intervention – 0-3 years
• Early childhood– 3-5 years
• Therapy Services– PT, OT, ST, devt therapy– In schools, home, daycare, Head Start, etc.
• Other Support Services
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Early InterventionEarly Intervention
• Individuals with Disabilities Education Act (IDEA) Part C, Infant and Toddler Program
• Must meet at least one of these criteria:– Devt delays in one or more areas– Physical or mental condition that has high
probability of resulting in devt delay (Down Syndrome, CP, etc.)
– Deemed “at risk” for devt delays by the state, based upon medical and/or developmental assessment
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Early Childhood/ “Co-Op”or “LEA”Early Childhood/ “Co-Op”or “LEA”• Educational Cooperative (“Local Education
Agency”) for ages 3-5 yrs• IDEA Part B, Section 619• Extension of the public school system– Dept of Educ/Spec Ed, includes preschool
• Day habilitation and other developmental services as needed
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Switching Gears…Switching Gears…What is Autism?What is Autism?
• Significant impairments in social skills• Significant impairments in communication skills• Abnormal play skills and behaviors
• Present from an early age• Discrepant from other developmental skills• Lack of, and/or atypical skills in the domains of social,
communication and play• Associated features (i.e., sensory)
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Autism Speaks websiteAutism Speaks website http://www.autismspeaks.org/video/glossary.php?WT.svl=Text_Links
• 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 eg: by a lack of showing, bringing or pointing out objects of interest.
• Lack of social or emotional reciprocity.
• Social Interaction– Social reciprocity #1
Impairments in Social skills
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Autism Speaks websiteAutism Speaks website http://www.autismspeaks.org/video/glossary.php?WT.svl=Text_Links
• 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 gesture 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.
• Communication– Expr/Rec Language #3(2) and 4(2)
Impairments in Communication skills
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Autism Speaks websiteAutism Speaks website http://www.autismspeaks.org/video/glossary.php?WT.svl=Text_Links
• 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 eg: hand or finger flapping or twisting, or complex whole-body movements.
• Persistent preoccupation with parts of objects.
• Repetitive Behaviors and Restricted Interests– Restrictive Patterns of Interest #1
Repetitive, stereotypic behaviors and interests
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Pervasive Developmental DisordersPervasive Developmental Disorders“Autism Spectrum”“Autism Spectrum”
Autistic DisorderAutistic Disorder
PDD- NOSPDD- NOSAsperger’s Asperger’s DisorderDisorder
Childhood Childhood Disintegrative Disintegrative
DisorderDisorder
Rett’s SyndromeRett’s Syndrome
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ASD: Impairment in social communication, ASD: Impairment in social communication, discrepant from overall developmental leveldiscrepant from overall developmental level
3-6 MONTHS
12-18 MONTHS
30 MONTHS
4-5 YEARS +
Affective Reciprocity
Joint Attention
Theory of Mind
Intuitive Psychology
Social Comm graphic courtesy of P Tanguay, MD
(Baron-Cohen et al 2001)
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How is Autism Diagnosed?How is Autism Diagnosed?• DSM-IV-TR (diagnostic textbook)• Extensive parent interview• Standardized assessment of development– Cognitive, language
• Clinical Observations– Childhood Autism Rating Scale, Autism Diagnostic
Observation Schedule• Supportive documentation/information– Teachers, therapists, previous evaluations
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Prevalence of AutismPrevalence of Autism• Increasing rates (2-5/10,000 in early 1990’s,
1/88 today)– Recognizing broader spectrum – changing diagnostic categories– more awareness – different sources for information– … other???
• 1 to 1.5 million Americans• 3-4:1 male: female ratio (1 in 94 boys)
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Causes of AutismCauses of Autism• Genetics– Syndromes and Disorders (e.g., Fragile X)– Family history
• Theories, some currently being investigated– Environmental toxins– Allergies/immunological reactions
– No evidence for psychosocial causes– CDC, IOM, Vaccines not causal
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Multifactorial InheritanceMultifactorial Inheritance
Favorable
Probability of D
isease
Unfavorable
Protective Predisposing
B Schaefer, 2011
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And Switching Gears Again…And Switching Gears Again…Mental Retardation/Intellectual DisabilityMental Retardation/Intellectual Disability
• originates before the age of 18• significant limitations in both intellectual functioning and
adaptive behavior – American Psychiatric Association (DSM-IV-TR)
• impairments in two or more areas of adaptive functioning and an IQ score of approximately 70 or less indicates MR/ID
– American Association for Intellectual and Developmental Disabilities (AAIDD) 2010• performance in any one of the three following types of adaptive
behavior, or an overall standardized measure of adaptive behavior, that is approximately two standard deviations below the mean:– Conceptual skills – Social Skills– Practical Skills
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Definitions of adaptive behavior Definitions of adaptive behavior
• self-care• communication• academics• work• leisure• social skills• home living• use of community resources• self-direction • safety
AAIDD, at least one of the following areas (or overall score):• Conceptual skills
– e.g., literacy, language, academics, money and time concepts
• Social Skills – e.g., interpersonal skills, rule-
following, social problem-solving, self-esteem, degree of naiveté
• Practical Skills – e.g., degree of independence in
daily living skills, occupational skills, accessing transportation
APA, 2 or more of following areas:
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EpidemiologyEpidemiology
• Different definitions can influence estimates
• Definitions have also changed over time– 2010 AAIDD def’n
Walker, W. O. et al. Pediatrics in Review 2006;27:204-212
Majority of persons with MR/ID are in the mildly impaired range (“bell shaped curve”)
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Levels of severity of MR/IDLevels of severity of MR/ID
APA definition AAIDD definition
MR/ID range IQ score Level of support needed
Degree of dependence on others/systems to function
Mild 50-55 to approx 70 Intermittent “as needed,” episodic
Moderate 35-40 to 50-55 Limited periodic, as in times of transition
Severe 20-25 to 35-40 Extensive regular support and/or more extended time frame
Profound Below 20-25 Pervasive life-long, intensive
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Relative Degrees of impact, biology vs. Relative Degrees of impact, biology vs. environment? environment?
Mild intellectual impairment
Severe intellectual impairment
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Generalizations, based upon DSM-IV-Generalizations, based upon DSM-IV-TR categorization of degree of MR/IDTR categorization of degree of MR/ID
MR/ID range
Academic potential/Reading Level potential*
Occupational potential* Independent Living Potential*
Mild Approximately sixth grade level Typically work, likely to need intermittent supports
Commonly live independently, might require some community or other social support
Moderate Approximately second grade level
Work with support, more supervised setting such as sheltered workshop
Live in group homes in the community, or with parents or other supervisor
Severe Develop some self-help skills, sight reading in the community
Unlikely to work, even with constant supervision
Live in a group home, at home with parents, or more extensively supported environment
Profound May develop some very basic self-help (e.g., feeding self), no reading
Not able to work Pervasive supports needed, placement influenced by co-morbidities (behavioral, medical)
Primary refs: Walker, Johnson Peds in Review 2006;27:249-256; AAP DBP manual Fussell, Reynolds chapter, Oct 2010
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Chronic Medical Conditions and MR/IDChronic Medical Conditions and MR/ID• Seizures/Epilepsy
– approx 10 x more common– Prevalence correlates with severity of ID– Typically harder to manage than in those without ID
• Sensory impairments – Vision– Hearing
• Motor problems – Including cerebral palsy– 10-20% of cases of MR/ID (more common with more severe degree of MR/ID)– Spastic quadriplegia tends to be more likely to be associated with MR/ID than
other types of CP
• Obesity, Type II diabetes
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Behavioral Problems with MR/IDBehavioral Problems with MR/ID• Sleep problems • Aggression– Toward others– Self-directed– Verbal aggression
• Repetitive, stereotypic behaviors• Tantrums• ** Remember: Communicative Intent**
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Psychiatric Problems with MR/IDPsychiatric Problems with MR/ID• 10% prevalence, 30-50% institutionalized• Include depression/mood disorders, anxiety,
ADHD, ODD, psychosis, less commonly schizophrenia
• Autism up to 20% in ID/MR population
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Switching Gears one more time…Switching Gears one more time…• Attention Deficit Hyperactivity Disorder
(ADHD)– Brief Review of Diagnosis, Treatment– The “Big picture”, school-based services
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ADHDADHD
• Prevalence 9.5% [4-12%] (CDC report in MMWR, 2010)
• males > females, 2.5x (CDC report in MMWR, 2005; Brown et al, 2000)
• Persistence to adolescence is seen in 30–50% of cases (37% per Mannuzza and Klein Psych Clin No Amer 2000, Mannuzza et al, Am J Psychiatry 1998)
• Persistence into adulthood…– Self-report: 5-8%– Parent-report 50-65% (Barkely 2002; http://www.adhdlibrary.org/library/how-
often-does-adhd-persist-into-adulthood/)
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Description of ADHDDescription of ADHD• Neurological basis, but defined
behaviorally (Castellanos, 2001)
– Dopamine and norepinephrine• Most commonly diagnosed
behavioral disorder of childhood• One of the most prevalent
chronic health condition affecting school-age children
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Definition of ADHDDefinition of ADHD(DSM-IV)(DSM-IV)
Inattention
Hyperactivity/Impulsivity• Subtypes
Inattentive type (15%)More girlsSuspected/diagnosed later
Hyper/Impulsive type (20%)Combined type (65%)
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Definition of ADHDDefinition of ADHD(DSM-IV)(DSM-IV)
Six or more of the following - manifested often*:
Inattention
• Inattention to details/makes careless mistakes
• Difficulty sustaining attention
• Seems not to listen• Fails to finish tasks
• Difficulty organizing• Avoids tasks requiring
sustained attention• Loses things• Easily distracted• Forgetful
*DSM-IV-TR, 2000
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Definition of ADHDDefinition of ADHD(DSM-IV)(DSM-IV)
Hyperactivity/ImpulsivitySix or more of the following - manifested often*
Impulsivity• Blurts out answer before
question is finished• Difficulty awaiting turn• Interrupts or intrudes on
others
Hyperactivity• Fidgets• Unable to stay seated• Inappropriate running/climbing
(restlessness)• Difficulty in engaging in leisure
activities quietly• “On the go”• Talks excessively *DSM-IV-TR, 2000
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Definition of ADHDDefinition of ADHD(DSM-IV)(DSM-IV)
• At least 6 of 9 for inattention AND/OR 6 of 9 hyper/impulsive
• Inappropriate for age/gender• Present before the age of 7• Present in more than one setting– Home and school
• Functional impairment– Social, academic, emotional, occupational
• “not better explained by another diagnosis”
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ADHD Differential DiagnosesADHD Differential Diagnoses• Developmental
Delays– Language– Cognitive
• Sensory Impairments– Vision– Hearing
• Medical– Thyroid– Absence seizures– Lead
• Mood Disorders– Depression– Anxiety
• Autism Spectrum Disorders– Autism– Asperger Syndrome
• Learning Disability• Sleep Disorder• Environmental
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ADHD and ComorbiditiesADHD and Comorbidities
Larson et al Pediatrics 2011; Wilens T J Clin Psychiatry 2007; McCann, Roy-Byrne Semin Clin Neuropsychiatry 2000; Barkley R. ADHD. A Handbook for Diagnosis and Treatment, 2nd ed. New York: Guilford Press, 1993; MTA Cooperative Grp. Arch Gen Psychiatry 1999;56:1076-1086; Milberger S, et al. J Am Acad Child Adolesc Psychiatry 1997;36:37-44; Biederman J, et al. J Am Acad Child Adolesc Psychiatry 1997;36:21-29.
40-50%
20-25%18-25% 10-30% 20% 19%
15-20%
30-40%
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Management of ADHDManagement of ADHD• AAP guidelines(2001), ADHD Practice Guide(CME forum, 2006)
• 4 steps:– Counseling families and children• Extent of impairment, comorbidities, risks/benefits of
treatment, consideration of family preferences– Setting Treatment Goals• Identify areas of impairment, measurable improvements
– Initiating Therapy – Developing Long-Term Mgt and Monitoring Plan • Chronic condition, monitor goals, clear plan for follow-up
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ADHD Low selfesteem
Academiclimitations
Relationships
Smoking andsubstance abuse
InjuriesMotor vehicle accidents
Legaldifficulties
Occupational/vocational
Children
Adu
lts
Adolescents
Potential Areas of ImpairmentPotential Areas of Impairment
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Management of ADHDManagement of ADHD
• Of those children diagnosed ADHD, 55% of their parents, when surveyed, reported that the child was taking medication to treat ADHD (CDC Report in MMWR, 2005)
http://www.cdc.gov/ncbddd/adhd/
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Management of ADHD: Non-medManagement of ADHD: Non-med
• Non-Medication Management– Known to be effective– Family may not want medication– Reduces associated symptoms/behaviors (i.e.,
anxiety)– Make medication more effective and may reduce
dosage– High parent satisfaction
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Medication Management of ADHDMedication Management of ADHDStimulants Short-acting Long-acting
MethylphenidateRitalin
MethylinFocalin
Metadate CDRitalin LAConcerta
Focalin XRDaytrana
Amphetamine AdderallDexedrine
Adderall XRVyvanse
Nonstimulants: Atometine, Guanfacine, Intuniv, others
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The “Big Picture”…The “Big Picture”…Classroom Modifications/”Primary Handicapping Classroom Modifications/”Primary Handicapping
Conditions”Conditions”
• Section 504 of the Individuals with Disabilities Act
• Other Health Impaired • Specific Learning Disability– Reading, Math, Written Expression
• Other Specific Diagnosis– Autism, Mental Retardation
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Section 504Section 504• Enacted to eliminate impediments to full participation
by persons with disabilities, prevent discrimination• Children with physical or mental impairments that
substantially limit major life activities (i.e., learning) qualify– ADHD, chronic med illness, s/p injury
• Broader than what IDEA defines as a disability, and requires “leveling of the playing field” with accomodations, not provision of additional services (while IDEA does)
• Section 504 not state/federally funded, IDEA is
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Other Health ImpairedOther Health Impaired• Limited strength, vitality, or alertness, including a
heightened alertness to environmental stimuli that results in limited alertness with respect to the educational environment, that is due to chronic or acute health problems and adversely affects a child's educational performance. Included are health conditions such as a heart condition, tuberculosis, rheumatic fever, nephritis, asthma, sickle cell anemia, hemophilia, epilepsy, lead poisoning, attention deficit disorder, attention deficit hyperactivity disorder, leukemia, or diabetes.
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Other Health ImpairedOther Health Impaired• The child's condition shall be permanent or expected to last
for more than 60 calendar days. • The child's disability has an adverse impact on the child's
educational performance• The child needs special education services as a result of the
disability • OHI requires a medically diagnosed physical health condition.
OHI does not included mental health diagnoses with the exception of ADD/ADHD. The medical condition or the treatment of that condition must have a direct and adverse effect on the student’s educational performance.
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Jill Fussell, MDJill Fussell, MD501-364-3866501-364-3866
[email protected]@uams.edu