Neuropsychological Aspects of NF1

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Neuropsychological Aspects of NF1

• Joe Ackerson, Ph.D.
• Clinical Director
• Ackerson Associates
• jackerson_at_ackersonandassociates.com

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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.

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Relevance of Neuropsychology

• Ability to demonstrate change
• Rule out alternative explanations
• Describe neurocognitive profile
• Identify moderators of functional outcomes
• Promote realization of ones future potential

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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

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Understanding Brain and Behavior

• Analysis of brain-behavior relationships provides
  insights into adaptation
• Brain-behavior relationships can be both
  one-to-many and many-to-one
• Understanding these relationships provide a
  framework for organizing findings
• Any complex behavior reflects multiple brain
  systems

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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

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Impact of NF1 on the Developing Brain

• Defining NF1
• Domains of functioning
• Recommendations for success

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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.

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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)

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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.

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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.

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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

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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

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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

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Domains of Functioning

• Intelligence
• Executive functioning
• Arousal and Speed/Efficiency
• Attention/persistence
• Self-regulation/motivation
• Problem-solving/flexibility
• Language
• Visuospatial/Visuomotor
• Memory
• Academic

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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

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Assessing individual clients

• Determine medical nonmedical variables
• Assess neuropsychological functioning
• Identify risk within environmental context
• Predict functional outcomes
• Provide recommendations for management

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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

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Attention problems

• Stimulant or similar acting medication
• Reduce distractions
• Self-monitoring techniques
• Rewards for task completion
• Hands-on, participatory instruction
• Close monitoring and redirection

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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

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Executive function deficits

• Direct instruction in decision-making and
  self-regulatory skills
• Structure and organize
• Routine and predictability
• Break tasks into manageable steps
• Need for frequent feedback
• Focus on process, not just outcome

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Nonverbal/Visuospatial deficits

• 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

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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

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Memory deficits

• Mnemonic/learning strategies
• Frequent repetition and review
• Environmental aides
• Homework assignment book
• Activity schedules
• Regular routines
• Cueing

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Emotional (Mood) Concerns

• Natural adaptation to illness
• Anxiety
• Grief and coping with perceived versus actual
  loss
• Clinical depression

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Evaluation and Modification

• Is it working?
• Why not?
• Understanding failure.
• Building on success.

Develop transitions orbridges between key
points.
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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

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Resources

• UAB Genetics Clinic (www.genetics.uab.edu)
• [phone] or [phone]
• Neurofibromatosis, Inc. (www.nfinc.org)
• The Childrens Tumor Foundation (www.ctf.org)
• Alabama Dept of Special Education
• www.alsde.edu
• Alabama Disabilities Advocacy Program
• www.adap.net

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Questions?