Neurobiology and Treatment of Reading Disability in NF-1

The most common concern of parents of children with neurofibromatosis type 1 (NF-1) is
learning disabilities (LD). Approximately one half of all children with NF-1 have LD—the most
debilitating and common of which are reading disabilities.

The purpose of this study is to determine if children with NF-1 who have reading disabilities
respond the same way—both behaviorally and neurobiologically—to specialized treatment
programs known to improve the decoding deficits in children with idiopathic reading
disabilities. The trial will also determine which intervention is best for particular learner
profiles. The overall purpose of this research is to gain a deeper understanding of the
characteristics and treatment of reading disabilities in NF-1.

In the trial, researchers will compare children with NF-1 who show weaknesses in reading to
children with reading disabilities of no known cause (idiopathic) using two different
interventions and behavioral and neurobiological measures. Both interventions focus on
teaching sound-symbol relationships, but vary in terms of relative emphasis on verbal versus
visual methods of teaching.

Scientists hope findings from the trial will advance knowledge about the best therapies for
LD in children with NF-1. And, by further refining how children with NF-1 who have reading
disabilities are similar (or different) to children with idiopathic reading disabilities, the
researchers may be able to learn if reading interventions that address areas other than
decoding will also benefit children with NF-1. Also, by understanding the similarities and/or
differences in the neuropsychological and neurobiological profiles of children with NF-1 who
have reading disabilities, and those without, scientists will be able to refine the cognitive
phenotype and neurobiological characteristics of NF-1, which will further understanding of
central nervous system abnormalities in NF-1.

Inclusion Criteria:

This study will be open to all individuals, ages 8 to 17 years, who meet eligibility
criteria regardless of race, gender, or socioeconomic status.

- The Reading Disabilities group (including those with NF-1) is defined by scoring equal
to or less than the 25th percentile on measures of basic word reading skills.

- The Control group (including those with NF1) is defined by scoring equal to or above
the 40th percentile on the average of the Letter Word Identification and Word Attack
subtests from the WJ-III.

Exclusion Criteria:

Any child, regardless of which group he/she is recruited for, will be excluded if he/she
meets any of the following criteria (determined during phone screening, medical review, and
during testing):

- is in foster care;

- previous diagnosis of mental retardation;

- known uncorrectable visual impairment;

- history of known neurological disorder (e.g., epilepsy, spina bifida, cerebral palsy,
traumatic brain injury);

- documented hearing impairment greater than 25 dB loss in either ear;

- medical contraindication to MRI procedures, if participating in MRI (including
exposure to metal and pregnancy);

- individuals known to have an IQ below 70;

- history or presence of a pervasive developmental disorder;

- during the DICA-IV parents indicate the presence of any severe psychiatric diagnoses
or pervasive developmental disorder.