Neurodevelopmental

Disabilities
September 14, 2012
Jill J. Fussell, MD
Associate Professor
Developmental/Behavioral
Pediatrics
UAMS
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Neurodevelopmental
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 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
relationships
Culture influences all aspects of early
development through child-rearing
beliefs and practices
Plasticity
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Plasticity
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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Plasticity
s
i
s
e
n
e
g
o
t
p
a
n
Sy

Pruning begins
Pla
stic
ity
dim
inis
hes

Plateau, synaptic stabilization,

overabundance of synapses

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http://www.loni.ucla.edu/~thompson/DEVEL/dynamic.html

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Neurodevelopmental
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 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 DTRs, clonus, upgoing
Babinski
Associated findings: strabismus,
oropharyngeal problems, GERD, contractures
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Classification of CP
Pyramidal
damage to motor cortex or pyramidal
tract

Extrapyramidal
damage to basal ganglia
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Brain Lesions with Associated CP

Presentation

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Primitive 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 reflex

Birth- 4 months

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Asymmetric Tonic Neck Reflex (ATNR)

2-4 weeks to 6 months

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Sitting/ Protective Responses

Anterior- 5 mos, Lateral- 7 mos, Posterior- 9 mos

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Parachute/ Protective Response

9-12 months

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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
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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

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?

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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?

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 old

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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?

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?
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
Conditions
CNS

Ortho

Seizures
Mental Retardation
Learning Disabilities
Language Disorder
Vision and Hearing
impairments
Contractures
Scoliosis
Sublux/dislocation
Falls, fractures

GI
Feeding/swallow
Drooling
Gastroesophageal
reflux Disease
Constipation

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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
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 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-Opor

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
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 website

http://www.autismspeaks.org/video/glossary.php?WT.svl=Text_Links

Impairments in Social skills

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
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Autism Speaks website

http://www.autismspeaks.org/video/glossary.php?WT.svl=Text_Links

Impairments in Communication skills

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)
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Autism Speaks website

http://www.autismspeaks.org/video/glossary.php?WT.svl=Text_Links

Repetitive, stereotypic behaviors and interests

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
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Pervasive Developmental Disorders

Autism Spectrum

Autistic Disorder

Aspergers
Disorder
PDD- NOS
Childhood
Disintegrative
Disorder

Retts Syndrome

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ASD: Impairment in social

communication, discrepant from
overall developmental level
Social Comm graphic
courtesy of P Tanguay, MD

Affective
Reciprocity
3-6
MONTHS

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Joint
Attention

Theory of
Mind

12-18
MONTHS

30
MONTHS

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Intuitive
Psychology
(Baron-Cohen et al 2001)
4-5 YEARS
+

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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 Autism
Increasing rates (2-5/10,000 in early
1990s, 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 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 Inheritance

B Schaefer, 2011

Unfavorable

i
D
f
o
ity
l
i
ab
b
Pro

e
s
a
se

Favorable
Protective

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Predisposing

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And Switching Gears Again

Mental 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
APA, 2 or more of
following areas:

self-care
communication
academics
work
leisure
social skills
home living
use of community
resources
self-direction
safety
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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, selfesteem, degree of naivet

Practical Skills
e.g., degree of
independence in daily living
skills, occupational skills,
accessing transportation

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Epidemiology
Different definitions can influence
Walker, W. O. et al. Pediatrics in Review 2006;27:204-212
estimates

Definitions have also

changed over time
2010 AAIDD defn
Majority of persons with MR/ID are in the mildly impaired range (bell shaped curve)
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Levels of severity of MR/ID

APA definition
MR/ID
IQ score
range

Mild

AAIDD definition
Level of
Degree of
support
dependence on
needed
others/systems to
function

Moderate

50-55 to approx Intermittent

70
35-40 to 50-55 Limited

Severe

20-25 to 35-40

Extensive

Profound

Below 20-25

Pervasive

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as needed, episodic
periodic, as in times of
transition
regular support and/or
more extended time
frame
life-long, intensive

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Relative Degrees of impact,

biology vs. environment?
Mild intellectual impairment

Severe intellectual impairment

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Generalizations, based upon

DSM-IV-TR categorization of
degree of MR/ID

MR/ID
range
Mild

Academic
Occupational
potential/Reading
potential*
Level potential*
Approximately sixth grade Typically work, likely
level
to need intermittent
supports

Independent Living
Potential*

Commonly live
independently, might
require some
community or other
social support
Moderat Approximately second
Work with support,
Live in group homes in
e
grade level
more supervised
the community, or
setting such as
with parents or other
sheltered workshop
supervisor
Severe
Develop some self-help
Unlikely to work, even Live in a group home,
skills, sight reading in the
with constant
at home with parents,
community
supervision
or more extensively
supported
environment
Profound May develop some very
Not able to work
Pervasive supports
basic self-help (e.g.,
needed, placement
Primary refs: Walker, Johnson Peds in Review 2006;27:249-256; AAP DBP manual Fussell, Reynolds chapter, Oct 2010
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feeding self), no reading
influenced
by co-

Chronic 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/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/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
Attention Deficit Hyperactivity
Disorder (ADHD)
Brief Review of Diagnosis, Treatment
The Big picture, school-based services

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ADHD
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 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 ADHD
(DSM-IV)

Inattention
Hyperactivity/Impulsivity
Subtypes
Inattentive type (15%)
More girls
Suspected/diagnosed later

Hyper/Impulsive type (20%)

Combined type (65%)
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Definition of ADHD
(DSM-IV)

Inattention
Six or more of the following - manifested often*:

Inattention to details/
makes careless mistakes
Difficulty sustaining
attention
Seems not to listen
Fails to finish tasks
*DSM-IV-TR, 2000

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Difficulty organizing
Avoids tasks requiring
sustained attention
Loses things
Easily distracted
Forgetful

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Definition of ADHD
(DSM-IV)

Hyperactivity/Impulsivity
Six or more of the following - manifested often*

Hyperactivity
Fidgets
Unable to stay seated
Inappropriate running/climbing
(restlessness)
Difficulty in engaging in leisure
activities quietly
On the go
Talks excessively
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Impulsivity
Blurts out answer before
question is finished
Difficulty awaiting turn
Interrupts or intrudes on
others

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*DSM-IV-TR, 2
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Definition of ADHD
(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 Diagnoses

Developmental
Delays

Mood Disorders
Depression
Anxiety

Language
Cognitive

Autism Spectrum
Disorders

Sensory
Impairments

Autism
Asperger
Syndrome

Vision
Hearing

Learning
Disability
Sleep Disorder
Environmental

Medical
Thyroid
Absence seizures
Lead
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ADHD and Comorbidities

40-50%

30-40%

20-25%
18-25% 10-30%

20%

19%
15-20%

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, 2 nd 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.

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Management 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 followup
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Potential Areas of
Impairment
Ch
ild

Academic
limitations

Relationships

Adults

Occupational/
vocational

ADHD

Legal
difficulties

ren

Motor vehicle
accidents

Low self
esteem

Injuries

Smoking and
substance abuse
Adolescents

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Management 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)
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http://www.cdc.gov/ncbddd/adhd
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Management of ADHD: Nonmed

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
ADHD
Stimulants
Short-acting
Long-acting
Methylphenidate

Amphetamine

Ritalin
Methylin
Focalin

Metadate CD
Ritalin LA
Concerta
Focalin XR
Daytrana

Adderall
Dexedrine

Adderall XR
Vyvanse

Nonstimulants: Atometine, Guanfacine, Intuniv, others

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The Big Picture

Classroom Modifications/Primary
Handicapping 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 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 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 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 students educational performance.

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archildrens.org

arpediatrics.org

uams.edu

Jill Fussell, MD
501-364-3866
fusselljillj@uams.edu
archildrens.org
archildrens.org

arpediatrics.org

uams.edu