While there is no cure for Fragile X syndrome as yet, there are many areas of intervention that can improve the lives of those affected and their families. All persons with Fragile X syndrome can make progress, given the proper education, therapy, and support.
Areas that often need to be addressed for someone with Fragile X syndrome including problems with:
While many of these areas require physical and behavioral interventions, medication is often an important component of the treatment.
- speech and language
- cognitive development
- sensory integration: is defined as the neurological process that organizes sensation from one’s own body and the environment, thus making it possible to use the body effectively within the environment. Specifically, it deals with how the brain processes multiple sensory inputs into usable outputs. It has been believed for some time that inputs from different sensory organs are processed in different areas in the brain. The communication among these specialized areas of the brain is known as functional integration. Sensory integration is necessary for almost every activity that we perform because the combination of multiple sensory inputs is essential for us to comprehend our surroundings.
- gross motor development
- daily living
Speech and Language Therapy
Intervention by a speech-language pathologist (SLP) is essential for children with Fragile X syndrome. Often delayed speech is the first sign that something is wrong with a young child, and the speech pathologist is the first person to evaluate the child. SLPs are integral people on the multidisciplinary team that sees a child, whether in early intervention, early childhood, or school age programs.
Children with Fragile X syndrome have unique speech and language disorders:
Children with Fragile X syndrome have unique speech and language disorders as well. Their speech and language are affected by physical, oral-motor, attention, and behavioral characteristics, and requires a multidisciplinary approach to treatment. A speech and language pathologist can help with this. Rather than offering the patient individual therapy in a "speech room", the SLP will design goals that can be carried out at home, in the daycare, on the playground, and with a variety of other professionals that will be working with the affected individual.
- Boys with Fragile X syndrome often have particular problems with pragmatic (conversational skills). Their speech and language are affected by physical, oral-motor, attention, and behavioral characteristics, such that an integrated approach to treatment is necessary.
- Girls with Fragile X syndrome often have many good verbal skills, but have difficulty in pragmatic speech, with anxiety and shyness affecting their social interactions. They, too, may benefit from the services of a speech-language pathologist (SLP).
Children with Fragile X syndrome often have a variety of behavioral challenges, including features of Autism. Behavioral challenges, including features of autism, are one of the main areas listed on checklists for the identification of persons with Fragile X syndrome. Intervention for difficulties with attention, anxiety, and relationships may require planning for both medication and behaviour modification.
Parents and educators may need to devise behavioral plans to help children with Fragile X syndrome cope with everyday demands of home, school, and community. Poor eye contact, hand flapping, and lack of awareness of social cues may cause difficulties in peer interactions, making inclusive educational placements a challenge. ADHD may also impede academic progress.
Behavioral interventions, including calming techniques, modified environments and behaviour therapy (ABA – Applied Behavioral Analysis) supervised by a psychologist, in conjunction with medication, may be beneficial for people with Fragile X syndrome.
Adapting and modifying are key for people with Fragile X syndrome.
- For early childhood and school age children clear, concrete plans, with appropriate cues (e.g., visual signals for quiet mouths) and appealing rewards (e.g., stickers which lead to prizes) are essential.
- Older adolescents and adults may need specific behavioral plans in vocational training, so that they can function in the work setting in the most appropriate manner.
Sensory Integration and Occupational Therapy
All affected Fragile X males and many affected females have perceptual problems which interfere with learning. Hypersensitivity to sensory stimuli (touch, sound smell, bright lights, etc.) is typical. They also have trouble integrating multiple sensory inputs and have great difficulty in shutting out unimportant information (such as the touch of their clothes, the buzzing of fluorescent lights or the smell of strong odours). Many families have found that treatment by occupational therapists who are experienced in the use of the technique called sensory integration therapy (SI therapy) can be effective in children with Fragile X. SI therapy is designed to help the individual gradually respond more appropriately to sensory input. This involves input to all of the five senses, plus proprioceptive (the sense of one's body in space) and vestibular (the sense of gravity and motion) input.
A combination of occupational therapy, including sensory integration therapy, medication, and combined speech-educational therapy are worth considering.
An occupational therapist (OT) is someone who is trained to provide assessment and therapy for fine motor, self-help, and sensory integration disorders. OT may be provided in early intervention, early childhood, and school programs, in work settings, and through private agencies. OT often designs a “sensory diet” for an individual with Fragile X syndrome, finding the best combination and timing of various sensory inputs: arousal levels, tactile defensiveness, fine motor weaknesses, and oral motor needs.
A sensory diet is an occupational therapy intervention devised to attain and maintain appropriate arousal states throughout each day. A sensory diet consists of a carefully planned program of specific sensory-motor activities that is scheduled according to each child’s individual needs (Wilbarger & Wilbarger, 2002) and each family’s schedule and resources. Like a diet designed to meet an individual’s nutritional needs, a sensory diet consists of specific elements designed to meet the child’s sensory integration needs. It is based on the notion that controlled sensory input can affect one’s functional abilities.
Forming a plan
Before an appropriate treatment program can be designed for a child or adult with Fragile X syndrome, an evaluation of sensory and fine-motor strengths and needs should be completed. Such an evaluation may include an interview with parents and teachers, observation of the affected person in various situations, and some formal tests. Interviews with parents and caregivers may provide the assessment team with knowledge about the child’s or adult’s typical performance and reactions in various situations. For examples, persons with Fragile X syndrome often have difficulty in situations that are new or are noisy, crowded, or confusing, and parents may be able to describe their child’s reactions and coping strategies in such instances.
Observations may take place in the home, classroom, and workplace. The occupational therapist (OT) tries to determine what settings are optimal for best performance by the child or adult with Fragile X syndrome and what alterations can be made in the environment to help that person. Lighting adjustments, noise reduction, or private, calming spaces may prove helpful to a person overwhelmed by too much sensory stimulation. The OT may also observe the individual during transitions from one activity to another and when unexpected events take place. The OT may also observe the affected individual with regard to seating (postural issues) and movement.
Information from a variety of assessments can be combined to form a plan for intervention. Intervention may combine developmental therapy (neurodevelopmental therapy and sensory integration therapy) with functional therapy (self-care and fine-motor therapy).
Not every therapy or intervention works for every person with Fragile X syndrome. A combination of these efforts may or may not be effective and must be evaluated on an ongoing basis to judge their effectiveness.