Neuropsychological Profile of Children with Neurofibromatosis Type 1

Children with neurofibromatosis type 1 (NF1) can have different cognitive profiles, which vary in intensity depending on the severity of the neurological effects of the NF1. Children can then present delayed development in one or more of the following areas: gross or fine motor skills, cognition, communication, personal and social development, and activities of daily living.

Rehabilitation centres for persons with physical deficiencies can offer services to these children if they need a specialized or highly specialized service. This type of service may help bring about significant gains in the performance of one or more daily living activities. The prognosis is then improved and may have a positive impact on development.

At the Centre de réadaptation en déficience physique Chaudière-Appalaches rehabilitation centre, children with NF1 are admitted to the childhood motor skills deficiency program. This program is intended for children aged from 0 to 17 years presenting a motor skill deficiency, delayed psychomotor development or dysphagia. Specific services include individual and group activities to support the integration of the child into day care, school and other living environments. There is also a mobility technical aids (wheelchairs, orthoses, etc.) department, as well as pediatric and orthopedic clinics.

In terms of cognitive disorders, neurofibromatosis type 1 can affect children on different levels. In fact, these children are up to seven times more at risk of presenting learning disorders than the general population. Such disorders are present among 30% to 70% of people with NF1 (compared to about 10% for the general population). Each case is unique, but several common traits may be present. The most frequently reported disorders are as follows:

• Intellectual quotient slightly below normal
• Symptoms of a non-verbal dysfunction syndrome:
  • Visuo-spatial deficits (emphasis on external stimuli and details, difficulty in seeing the whole picture, weakness in forming letters and writing legibly, difficulty in getting organized in time, in space and with school materials, or difficulty when younger in telling time from a traditional watch)
  • Tactile deficits
  • Gross motor skill disorders (hypotonia, motor incoordination)
  • Difficulties in mathematics and non-verbal problem solving
  • Difficulties with new situations
  • Great verbosity
  • Poor visual decoding
  • Weak social skills
  • Categorization difficulties

• Receptive (dyslexia) or expressive (dysorthographia) written language disorders
• Attention deficit disorder with or without hyperactivity
• Impairment of so-called executive frontal functions: social skills, cognitive flexibility or self-control.

The neuropsychological evaluation then becomes important, as there is no constant profile in NF1. The results of this evaluation reveal how the child can best process information to maximize understanding and subsequent recollection. The problems that can have an impact on learning must be identified in order to offer appropriate teaching aids. A series of recommendations is then proposed to the parents and school professionals, based on the child’s profile. The evaluation can be done at any age, every time the presence of difficulties affecting the following functions is suspected:

• Attention and memory functions
• Perception, visuo-spatial organization or non-verbal reasoning functions
• Motor and praxis functions (disturbance of propositional or voluntary movements)
• Executive functions, which concern the use of appropriate strategies to resolve tasks in order to achieve a goal; this ability includes strategies for planning, impulse control, active memory search processes, flexibility in thoughts and actions, as well as programming or regulation of social conducts and behaviours
• Language functions in spoken and written language comprehension or expression.

The role of the psychologist consists in doing part of this evaluation and in accompanying the child and his or her family following receipt of the diagnosis. The psychologist can provide psychotherapeutic support in relation to the after-effects of the disease (for example, esthetic impacts, concerns and anguish about the future or grieving related to the after-effects). Anxiety can be present in up to 33% of cases.

There are consequently psychology and neuropsychology services. There is also the possibility of referral, according to needs, to appropriate occupational therapy and physiotherapy resources, in the presence of hypotonia or motor incoordination. There can also be remedial instruction or speech therapy support at school, in the case of learning disorders. Medication can be considered if there is a significant attention deficit disorder. Parents can also benefit from the personal support of a social worker to help them better adjust to the situation in order to prevent overprotection, lack of autonomy, poor social integration and low self-esteem in their child.

In sum, services are offered according to needs. Each child is unique, and all children must be given the best springboard to optimize their development!

Isabelle Ouellet
Psychologist and neuropsychologist
Centre de réadaptation en déficience physique Chaudière-Appalaches