1. FRAGILE X SYNDROME
1.5 M EDICAL AND SOCIAL MANAGEMENT
No curative treatment is presently recognized as beneficial for individuals with fragile X syn-drome. Because of the effect of folic acid on the
in vitro expression of the fragile site, the thera-peutic effect of folic acid has been investigated.
Certain beneficial effects on behavioural prob-lems were initially reported, but those effects were not confirmed by seven subsequent ran-domized trials based on standardized measure-ment instrumeasure-ments but involving a limited number of subjects (Murray et al., 1997).
Therefore, medical management of the syn-drome16 basically consists of a regular follow-up to prevent or monitor its usual clinical manifesta-tions, such as hypotonia, otitis and behavioural problems. Pharmacologic treatments17 for hyper-activity, attention disorders and anxiety may be indicated, depending on the extent of the behav-ioural problems, which are often the main con-cern of parents of affected school-age children (Hagerman, 1997b; Hagerman, 1999). Treating recurrent otitis is important for preventing hear-ing problems that would further delay language acquisition. Prophylactic antibiotic therapy is required for surgical interventions and dental care in the presence of mitral valve prolapse.
The American Academy of Pediatrics has issued recommendations, by age group, for following affected children both from a medical standpoint and from the standpoint of the guidance that the child and his or her family should receive (AAP, 1996). Although the regular follow-up and the coordination of medical care can be provided by pediatricians or general practitioners (Cooley, 1999), the child will need to be referred to vari-ous specialized clinics (neuropediatrics, pediatric psychiatry, ophthalmology, orthopedics, cardiol-ogy, etc.), depending on his or her age and the
16 For a more detailed description, see Hagerman (1996a, 1997b) and de Vries et al. (1998b).
17 Different drugs may be used, depending on the age and predominant symptoms, but, thus far, very few controlled studies have compared the various pharmacologic ap-proaches for lack of sufficiently large series of affected children whose behavioural problems have been well de-scribed (Hagerman, 1999).
Fragile X syndrome
problems at hand. Furthermore, as soon as the diagnosis is made, the parents should be able to obtain genetic counselling (see Section 3.2).
Multidisciplinary palliative management18 is desirable for promoting the school and social integration of affected children, and early intervention is required if one wishes to optimize their developmental potential19. The children's needs vary considerably according to their age, the predominant symptoms and the degree of cognitive impairment. The involvement of vari-ous professionals is required: speech therapists,
occupational therapists, psychologists, physio-therapists and special education teachers. A de-velopmentally delayed child under the age of 5 years reportedly requires about four to five hours of direct, professional guidance (all professions combined) and four to five hours of indirect, professional guidance per week20. Since the bulk
of the child’s day-to-day management is none-theless provided by the parents, the latter also require information, support (psychological21, respite, etc.) and assistance in seeking out the appropriate services.
18 For further details, see Wilson et al. (1994) and Schar-fenaker et al. (1996).
19 No study specific to fragile X syndrome has documented the effect of "early intervention" on these children’s long-term prognosis (Bailey et al., 2000). The recommendations in this regard are based on the accumulated experience of a few specialized centres and on the literature on early inter-vention in developmentally delayed children. Although, on the whole, this literature has demonstrated the efficacy of early multidisciplinary interventions with the parents’
involvement, some authors believe that one cannot justi-fiably extrapolate the conclusions in this literature, which is largely based on studies involving children whose de-velopmental delay could have had an environmental cause, to children whose developmental delay may be of biologi-cal origin (see discussion in Parry, 1992). However, the efficacy of early intervention has been documented for two groups of children with problems similar to those observed in fragile X children: children with delayed language ac-quisition and autistic children. Also, the objective of these programs is not only to optimize the children's develop-ment, but also to prevent secondary handicaps (e.g., be-havioural problems exacerbated by speech and communi-cation problems) and to give the parents support that will enable them to deal with their children's special needs (Parry, 1992).
20 As determined by the Centre de Réadaptation de l’Estrie (CRE).
During the preschool years, occupational ther-apy, physiotherther-apy, speech therapy and psycho-logical services are often required to meet the child's needs. A psychologist's intervention in-volves an accurate assessment of the child's cog-nitive development and behavioural adaptation.
The assessment is often complicated by the at-tention problems and hyperactivity that some children exhibit as early as the age of 3 years.
Also, the difficulty they have in dealing with new situations can cause such shyness and anxi-ety that there is a risk of underestimating their performance. Nonetheless, each child's abilities should be accurately evaluated on a regular basis in order to develop an individualized service plan. Speech therapy is generally required early because of the delay in language acquisition, and, in more severe cases, physiotherapy may be indicated for motor and feeding problems as early as the first year of life. Occupational ther-apy helps motor development and helps stimu-late the child. All of the professionals involved also help encourage and train the parents to con-tinue this stimulation at home by means of ap-propriate exercises and games.
The type of intervention recommended in terms of speech therapy and occupational therapy has not been evaluated specifically for fragile X
syn-21 The syndrome’s hereditary mode of transmission gives rise to a particular psychological setting that should be taken into consideration when offering individualized family support (Bailey and Nelson, 1995). Moreover, psychological support for parents of children with behav-ioural problems in addition to mental retardation is espe-cially important, given that these difficulties constitute an additional source of stress for the parents and because maladaptive behaviours are a major obstacle to school and social integration (including, later on, workplace integra-tion) (Bouchard et al., 1996).
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drome, but such therapies have been used in children with similar problems (for example, autism or delayed speech due to mental retarda-tion) (Scharfenaker et al., 1996; Abbeduto and Hagerman, 1997). As for the recommended ap-proaches, much importance is attached to sen-sory integrative approaches22 and to the offer of integrated services in the form of joint care by a number of functional reeducation professionals or in the form of ongoing collaboration23 (Wilson et al., 1994; Scharfenaker et al., 1996).
During the school years as well, each child's abilities should be evaluated on a regular basis so that he or she might receive the supervision best suited to his or her cognitive development and behavioural profile. Although most affected boys will clearly not be able to meet the re-quirements of a normal curriculum, there is no consensus as to the type of educational path that should be chosen, and this path should, no doubt, depend on each child's strengths and weaknesses.
Whatever the school setting, affected children will exhibit, to varying degrees, learning difficulties that will require special support from speech therapists or special education teachers, depending on the case. No rigorous studies in-volving a sufficient number of children with this syndrome have been conducted to demonstrate which educational strategies could promote the optimal development of their abilities (Bailey and Nelson, 1995). However, based on the
cialized centres, it
pertise accumulated at specialized centres, it would be highly desirable, in addition to provid-ing specialized services (speech therapy, occupa-tional therapy, etc.), to take into account the de-velopmental and behavioural features specific to the syndrome when adapting the learning strate-gies and to modify the children's environment accordingly (Scharfenaker et al., 1996). Table 1.5 summarizes a few recommendations in this regard.
expertise accumulated at spe
22 The use of these approaches is based on the assumption that problems integrating sensory stimuli, but also proprio-ceptive and vestibular stimuli, may be at the origin of attention disorders, which affect cognitive development, but also of certain symptoms (tactile defensiveness, eye contact avoidance, stereotyped behaviours, etc.) that affect communication and social skills.
23 The advantage of providing integrated services is illus-trated by the following two examples: 1) language acquisi-tion requires adequate tonus of the trunk and neck and sufficiently developed facial muscle motricity and coordi-nation; and 2) the use of certain rhythmic movements or tactile stimuli (deep rather than superficial) could improve speech delivery and concentration and therefore prepare the children for various other learnings.
When children reach adolescence, new concerns arise: their autonomy with regard to daily activi-ties, their preparation for professional life and their participation in social life. In general, par-ents continue to look after their children when they are adults, but housing may become a prob-lem if the parents are no longer able to provide it. In such cases, various forms of assisted living may be considered24. Depending on their level of autonomy and their behavioural characteristics, adults may be channeled into different work in-tegration programs25.
24 Residential resources include group homes, supervised apartments and foster homes. The little support provided to the family home is regrettable.
25 True work integration is seldom achieved by individuals with mental retardation. Behavioural problems make such integration even more difficult (Ministère de l’Éducation du Québec, 1999b). Some individuals enter subsidized work integration contracts (OPHQ), but they rarely lead to integration. Others do workplace traineeships, which may or may not be supervised and which are not always remu-nerated. Lastly, a certain number attend sheltered work-shops.
Fragile X syndrome
Table 1.5: Examples of adjustments made to learning strategies and of environmental changes that can have a beneficial effect according to the cognitive and behavioural
characteristics of fragile X children
Cognitive/
behavioural characteristics
Recommended strategies
Hypersensitivity to sensory stimuli Avoid visual and auditory distractions.
Small groups.
Do not force eye contact.
Postural stabilization.
Difficulties concentrating Adjust length of activities.
Provide calming or sensory integration activities be-fore the learning activities.
Speech problems Allot more time.
Avoid any source of anxiety.
Difficulties with novelty and with transition between activities
Staff continuity.
Regular, predictable schedules.
Prepare transition between activities.
Difficulties with sequential activities Simple and concise instructions.
General presentation of tasks and objectives.
Difficulties with abstraction and generalization Adapt the curriculum to include simple and concrete activities that relate to daily tasks.
Fine motor problems Use technical aids (calculators, computers, etc.).
Imitation and visual memory skills Activities with peers who can serve as speech and behaviour models.
Combine visual and auditory cues.
Source: Inspired by Wilson et al. (1994) and Scharfenaker et al. (1996).
FRAGILE X SYNDROME: THE ROLE OF MOLECULAR DIAGNOSIS AND SCREENING IN AN INTEGRATED APPROACH TO SERVICES
Genetic aspects of fragile X syndrome
Aspects génétiques du syndrome