Neuropsychological Aspects of NF1
Joe Ackerson, Ph.D.
Clinical Director
Ackerson & Associates
jackerson@ackersonandassociates.com
What is Neuropsychology?
• A subspecialty of Clinical Psychology
• Specializing in understanding Brain-Behavior
Relationships
• Applies this knowledge to promote adaptation in
the individual
• Pediatric Neuropsychology emphasizes a
developmental framework and addresses
academic and family issues.
Relevance of Neuropsychology
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Ability to demonstrate change
Rule out alternative explanations
Describe neurocognitive profile
Identify moderators of functional outcomes
Promote realization of one’s future potential
Adaptation
• The central goal of neuropsychology is to
promote adaptation and functioning
• Adaptation results from interactions between
individuals and their environments
• Failures in adaptation may be seen as a matter
of a “lack of fit” between the individual and
their world
Understanding Brain and Behavior
• Analysis of brain-behavior relationships provides
insights into adaptation
• Brain-behavior relationships can be both one-tomany and many-to-one
• Understanding these relationships provide a
framework for organizing findings
• Any complex behavior reflects multiple brain
systems
Making Predictions
• A thorough history is essential (know
the past to tell the future)
• Assessment should help anticipate
the future, not just describe present
• Explain adaptive failures and predict
risk in terms of mismatch
Impact of NF1 on the Developing Brain
• Defining NF1
• Domains of functioning
• Recommendations for success
NF1
• Common autosomal dominant, genetic disorder.
• Multi-system: neurological (central and
peripheral), cutaneous, skeletal, and neoplastic
manifestations.
• Increased risk of developing tumors of the central
and peripheral nervous system.
Clinical Presentation
• Genetic mutation that can affect ANYONE.
• Early childhood, puberty and childbearing
age in females are considered to be the
periods of greatest risk for disease
progression
• NP symptoms of NF1 vary greatly and may not
appear school age or later.
• No cures (yet)
Neuropsychological Aspects of NF1
• Learning disorders (LD) are the number one
morbidity of NF1, affecting 50-65%.
• A wide range of LD can be seen including ADD,
ADHD, Reading (dyslexia), Math, Nonverbal LD,
and Written Language.
• Can lead to lifelong academic and occupational
underachievement, behavioral, and emotional
problems
• General intelligence and other cognitive functions
can be completely spared.
NF1, LD, and the RAS Pathway
• Learning problems in NF1 may be related to Ras function.
• Studies suggest that an upregulation of Ras activity may
account for the LD in both mice and humans with LD.
• A mouse model suggests excessive Ras activity leads to
long term potentiation (LTP) deficits.
• LTP + the neural basis of learning, think of a “neural
pathway
• So LTP deficits lead to learning and attention problems.
• We have developed Neuropsychological protocols to better
understand the impact of NF1 and some of the proposed
treatments.
Neurocognitive functioning in NF1
• Hyman 2005 study of 81 children aged 8-16
• Up to 81% of children with NF1 demonstrated
significant deficits on some measure of cognitive
functioning
• 63% demonstrated problems with attention but
only 38% met formal criteria for a specific learning
disorder (SLD)
• 51% demonstrated significant deficits in academic
functioning (reading, writing, arithmetic)
• But only 20% met formal criteria (under significant
discrepancy model) for a specific learning
disability
There is NO specific
Neuropsychological profile but…
• Executive, attention, and visuospatial skills tend
to be the most affected
• Expressive and receptive language also affected
• Memory functioning may be relatively spared
Current Lovastatin Research
• Applying a mouse model of NF related
visuospatial learning (Li et al, 2005)
• Statin drugs appear to influence the Ras pathway
• Lovastatin reversed the spatial learning deficits in
mice
• Current study underway through the NF
consortium studying the possible impact of
Lovastatin on attention, memory, and learning
problems in children
• Proposed mechanism different from stimulant
medications for ADHD
Domains of Functioning
• Intelligence
• Executive functioning
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Arousal and Speed/Efficiency
Attention/persistence
Self-regulation/motivation
Problem-solving/flexibility
Language
Visuospatial/Visuomotor
Memory
Academic
When to test?
• Early identification means early treatment
• Early treatment associates with better outcomes
• Early reading problems predict later reading
problems
• Reading is key to academic success
Assessing individual clients
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Determine medical & nonmedical variables
Assess neuropsychological functioning
Identify risk within environmental context
Predict functional outcomes
Provide recommendations for management
Arousal problems
• Antidepressant, activating, or sleep aid
medication
• Encourage sleep routine in evening
• Intersperse structured activity with rest periods
• Graduated program to develop endurance and
ensure success
• More demanding interventions/classes in morning
Attention problems
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Stimulant or similar acting medication
Reduce distractions
Self-monitoring techniques
Rewards for task completion
Hands-on, participatory instruction
Close monitoring and redirection
Slowing
• Activating medications
• Adaptive techniques to minimize required
effort
• Reduce pace of instruction and amount of
work
• Evaluate quality, not quantity
• Limit homework
• Allocate more time for activities
Executive function deficits
• Direct instruction in decision-making and selfregulatory skills
• Structure and organize
• Routine and predictability
– Break tasks into manageable steps
– Need for frequent feedback
• Focus on process, not just outcome
Nonverbal/Visuospatial deficits
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Teach to verbal strengths
Reduce visual complexity, less clutter
Use familiar and readable materials and tasks
Increase print size & have fewer problems per
page
• Use step-by-step approach, build on practice and
review
Visuospatial (cont.)
• Use visual guides (finger, ruler) to keep place
• Use lines or large block graph paper to maintain
alignment
• Highlight important text
• Trace the operand (sign) in Math equations
Memory deficits
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Mnemonic/learning strategies
Frequent repetition and review
Environmental aides
Homework assignment book
Activity schedules
Regular routines
Cueing
Emotional (Mood) Concerns
• Natural adaptation to illness
• Anxiety
• Grief and coping with perceived versus actual
loss
• Clinical depression
Evaluation and Modification
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Is it working?
Why not?
Understanding failure.
Building on success.
Develop transitions or
bridges between key points.
Family support
• Anticipatory guidance and follow-up
• The family functions as part of the treatment
team
• Train yourself up as advocates
• Know when to fight and when to play well with
others
Resources
• UAB Genetics Clinic (www.genetics.uab.edu)
– (888) 822-4362 or (205) 934-5567
• Neurofibromatosis, Inc. (www.nfinc.org)
• The Children’s Tumor Foundation (www.ctf.org)
• Alabama Dept of Special Education
– www.alsde.edu
• Alabama Disabilities Advocacy Program
– www.adap.net
Questions?