Educating Children with Fragile X Syndrome

A Multi-Professional View

Denise Dew-Hughes

• Publisher: Routledge
• Year: 2003
• Print ISBN: 9781138147843
• eBook ISBN: 9781134378104
• Edition: 1
• Topic: Education
• Subtopic: Education General

What is Fragile X? The most common inherited cause of learning difficulties, affecting a child's ability to tackle key areas such as literacy and numeracy, and causing behaviour problems and social anxiety.

What can teachers do to help children with Fragile X become more effective learners? This definitive text will provide essential support and information for teachers with the expertise of an international field of researchers, whose variety of perspectives contribute to a unique, multi-professional approach. Each chapter of the book suggests practical intervention strategies, based on sound educational principles expressed in clear non-specific terms. A range of important topics are considered, including:

* the physical and behavioural characteristics of Fragile X
* the effects of Fragile X on learning
* medication and therapy
* related conditions such as autism and attention deficit disorders.

Breaking down the barriers of professional practice, this book establishes the groundwork for successful and valuable multi-professional teamwork. By providing immediate access to a body of empirical knowledge and advice from other disciplines, it will encourage teachers to incorporate this approach into their own practice. Everyone responsible for the education of a child with Fragile X syndrome should read this book.

Part I
The child with fragile X syndrome

Chapter 1
Physical and behavioural characteristics of fragile X syndrome

Randi Hagerman

It is essential for educators to know about fragile X syndrome because this common disorder presents a variety of behavioural and cognitive problems, which continue from infancy throughout life. Fragile X has many consistent features, but each child has a different set of background genes that may be influenced in different ways. Some children may have mild learning difficulties, whereas others may have severe learning disabilities and autism. Some may have severe outbursts and aggression whereas others are easygoing.

A detailed description of the genetic implications of fragile X syndrome can be found elsewhere in this book. This chapter describes the physical and behavioural characteristics of fragile X which, put simply, result from the absence or deficiency of a protein responsible for early brain development.

High functioning individuals

Approximately 15 per cent of males with fragile X are considered high functioning; their intelligence is average or even above. These boys often have fewer of the physical and behavioural features of fragile X (see tables 1.1 and 1.2). The intelligence level of most boys with fragile X will decrease over time, although some who are less severely affected can maintain a normal to borderline range of intelligence level into adulthood. Most children with fragile X have a mild to moderate range of learning disabilities. Sometimes the diagnosis of fragile X is delayed until middle childhood, particularly in the child who is higher functioning and has fewer features of fragile X.

Early features

At birth, infants with fragile X commonly have a large head circumference, poor muscle tone (hypotonia) and mild difficulties in coordination. Parents may not know in the first year that there is a developmental problem with their child unless the hypotonia is severe and early motor milestones such as sitting, crawling, and walking are delayed. More typically, the parents become aware of significant problems with delays in speech and language development. By the age of two, children with fragile X are usually not speaking and this precipitates paediatric evaluation and a subsequent diagnosis. Educators will usually see children with fragile X in an early childhood intervention programme.

Males with full mutation

Table 1.1 Percentage of prepubertal boys and girls with features

Table 1.2 Percentage of prepubertal boys and girls with features

Autism and fragile X

Approximately 25–35 per cent of young children with fragile X have a diagnosis of autism because of their social withdrawal, poor eye contact, severe deficits in social interaction, perseverations in behaviour and speech, and stereotypical behaviour such as hand-flapping or hand-biting. These children require the more intensive behavioural interventions that address autism, in addition to those for fragile X. Children who also have autism have lower cognitive abilities than those with fragile X alone. Why some children have more severe deficits causing autism is not known. Most children with fragile X, however, are not autistic, because they are interested in people and enjoy social interactions, although poor eye contact, hand-flapping, and hand-biting are seen in 50–90 per cent of children with fragile X even without autism (Table 1.1).

AD/HD, hyperarousal and anxiety

The behavioural problems in fragile X include hyperactivity or Attention Deficit/Hyperactivity Disorder (AD/HD) in 70–90 per cent of boys, and 30–50 per cent of girls. These children are usually easily aroused by excessive sensory stimuli such as a crowded market or a concert. Sometimes this hyperarousal leads to irritability or tantrum behaviour, hand-biting or hand-flapping. This can cause significant problem for parents and teachers if it happens in public.

Other behaviours related to sensory processing problems include tactile defensiveness or pulling away from light touch, covering their ears when sirens or alarms are sounding, occasional vomiting at strange smells, or disliking foods with an unusual texture. Anxiety frequently occurs when the child is hyperaroused. This leads to behaviour difficulties such as tantrums in new situations, with new people or even with the transition from one activity to another in school. The combination of hyperarousal and anxiety can lead to outbursts or even aggression. It is important for teachers to be aware of these problems and to develop calming techniques for use in the classroom and for activities outside school.

Females have less mood instability, aggression and hyperactivity than males with fragile X. More frequently shyness and social anxiety causes withdrawal or even the reluctance to talk (selective mutism), and attentional problems and disorganisation are common.

Physical features

Some physical features are seen in the majority of children with fragile X but approximately 30 per cent may not have these features, and they are not essential for diagnosis. The physical characteristics common to fragile X include prominent ears, a long face, a high palate, flat feet, and ‘double jointed’ (hyperextensible) fingers. These features are related to the connective tissue changes present in fragile X (Table 1.2). However, such features are very common in the general population, so most children with fragile X look normal.

Many individuals may have a long narrow face, although in early childhood this is less common. Boys often have rather prominent or large ears. The skin of people with fragile X is softer and more stretchable; their joints are generally more flexible, particularly in childhood. The looseness of the connective tissue also predisposes them to hernias, joint dislocations, oesophageal reflux, eye and vision problems, sinusitis and middle ear infections (see Table 1.3).

Recurrent ear infection problems have the greatest impact on education because they can cause even further damage to language development than is caused by fragile X alone. If the child has recurrent infections it is essential that hearing should be normalised by fitting pressure equalising tubes or grommets. Infections typically begin in the first year of life and require careful medical monitoring. Parents often comment that when grommets are fitted (typically at 2 to 3 years of age), they notice a dramatic improvement in speech and language development.

Vision can also be affected; ‘wobbly eye’ (strabismus) and/or squints are seen in up to 30 per cent of children. If these conditions are not treated the child may lose vision in the affected eye.

Table 1.3 Associated medical problems of males with fragile X syndrome

Seizures occur in approximately 20 per cent of children with fragile X, and these often begin in early childhood. They can be staring or absent episodes, partial motor or tonic-clonic fits, but these respond well to anticonvulsants. Seizures usually disappear after childhood although they may occasionally persist into adulthood.

Large testicles (macroorchidism) are a signature feature of boys with fragile X from early puberty onward. By the end of puberty the testicles can be 2–3 times normal size; teachers should be aware of the social and physical discomfort this can cause. Men with fragile X are normally fertile; the 15 per cent who are of higher intellect may father children, but most men with fragile X do not because of their cognitive limitations.

Girls with fragile X have the same features seen in boys, where appropriate, although these problems are usually less severe. Approximately 70 per cent of girls with fragile X have borderline or mild learning difficulties. They may also have attentional problems or executive function deficits, mood instability, anxiety and other behaviours (Table 1.1). As for all children, parental intellect (which represents background gene effects) and their environment also participate in how much they will be affected by fragile X.

A limited number of people with fragile X have cardiac problems, including prolapse of the mitral valve (MVP) and dilation of the base of the aorta. These problems are usually benign and often not seen until adulthood. They are related to connective tissue abnormalities, in the same way as are the child’s loose joints. Rarely, a child with fragile X will have an uneven heart beat (arhythmia) or heart murmur.

Premutation carriers

Children who carry the premutation gene of fragile X usually have normal intellects. An occasional premutation carrier, particularly a male, may have learning difficulties, significant cognitive deficits or even autism. Both male and female premutation carriers may also have anxiety and occasionally this begins in childhood.

It is helpful to identify schoolage carriers because if learning or emotional problems occur they can be treated early. Psychologically most families feel that knowledge about their carrier status is easier for the child to accept in childhood, rather than being informed just prior to marriage or having children.

Summary

Children with fragile X have distinctive physical and behavioural characteristics, which combine shyness with attentional problems, impulsivity, hyperactivity, poor eye contact, stereotypical behaviour, perseverative speech and a good sense of humour. Teachers who become familiar with a child with fragile X are likely to recognise other children with the same disorder. Knowledge of the molecular cause of fragile X helps us to appreciate the variations that are seen from one child to another and to develop better treatment strategies in medicine and education. Treatment involves a multi-professional approach, which is well reviewed in this volume of work.

Acknowledgements

This work was supported by a grant from NICHD #HD36071 and the M.I.N.D. Institute at the University of California, at Davis.

References

Bailey, D.B., Hatton, D.D. and Skinner, M. (1998) Early developmental trajectories of males with fragile X syndrome. American Journal on Mental Retardation 103: 29–39.

Bailey, D.B., Jr., Hatton, D.D., Mesibov, G.B., Ament, N. and Skinner, M. (2000) Early development, temperament and functional impairment in autism and fragile X syndrome. Journal of Autism and Developmental Disorders 30: 49–59.

Bailey, D.B., Skinner, D., Hatton, D. and Roberts, J. (2000) Family experiences and factors associated with the diagnosis of fragile X syndrome. Journal of Developmental and Behavioral Pediatrics 21: 315–21.

Cornish, K.M., Munir, F. and Cross, G. (1999) Spatial cognition in males with fragile-X syndrome: evidence for a neuropsychological phenotype. Cortex 35: 263–71.

Cornish, K.M., Munir, F. and Cross, G. (2001) Differential impact of the FMR-1 full mutation on memory and attention functioning: a neuropsychological perspective. Journal of Cognitive Neuroscience 13: 144–50.

Greco, C., Hagerman, R.J., Tassone, F., Chudley, A., Del Bigio, M.R., Jacquemont, S., Leehey, M. and Hagerman, P.J. (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125: 1,760–1,771

Hagerman, R.J. (2002) Physical and Behavioral Phenotype. In: Hagerman R.J. and Hagerman, P.J. (eds) Fragile X Syndrome: Diagnosis, Treatment and Research, 3rd edition. Baltimore: Johns Hopkins University Press, pp. 3–109.

Hagerman, R.J. and Hagerman, P.J. (2002) The fragile X premutation: into the phenotypic fold. Current Opinion in Genetics & Development 12: 278–283.

Hatton, D., Bailey, D.B., Hargett-Beck, M.Q., Skinner, M. and Clark, R.D. (1999) Behavioral style of young boys with fragile X syndrome. Developmental Medicine and Child Neurology 41: 625–632.

Hatton, D., Hooper, S.R., Bailey, D.B., Skinner, M.L., Sullivan, K.M. and Wheeler, A. (2002) Problem behavior in boys with fragile X syndrome. American Journal of Medical Genetics 108(2): 105–116.

Hills-Epstein, J., Riley, K. and Sobesky, W. (2002) The treatment of emotional and behavioral problems. In: Hagerman, R.J. and Hagerman, P.J. (eds) Fragile X Syndrome: Diagnosis, Treatment, and Research, 3rd Edition. Baltimore: Johns Hopkins University Press, pp. 339–362.

Miller, L.J., McIntosh, D.N., McGrath, J., Shyu, V., Lampe, M., Taylor, A.K., Tassone, F., Neitzel, K., Stackhouse, T. and Hagerman, R.J. (1999) Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. American Journal of Medical Genetics 83: 268–279.

Scharfenaker, S., O’Connor, R., Stackhouse, T. and Noble, L. (2002) An integrated approach to intervention. In: Hagerman, R.J. and Hagerman, P.J. (eds) Fragile X Syndrome: Diagnosis, Treatment and Research, 3rd edition. Baltimore: Johns Hopkins University Press, pp. 363–427.

Symons, F.J., Clark, R.D., Roberts, J.P. and Bailey, D.B. (2001) Classroom behavior of elementary school-age boys with fragile X syndrome. The Journal of Special Education 34(4): 194–202.

Tassone, F., Hagerman, R.J., Iklé, D.N., Dyer, P.N., Lampe, M., Willemsen, R., Oostra, B.A. and Taylor, A.K. (1999) FMRP expression as a potential prognostic indicator in fragile X syndrome. American Journal of Medical Genetics 84: 250–61.

Turk, J. (1998) Fragile X syndrome and attentional deficits. Journal of Applied Research in Int Disab 11: 175–191.

Turk, J. and Graham, P. (1997) Fragile X syndrome, autism, and autistic features. Autism 1: 175–197.

Chapter 2
The importance of diagnosis

Jeremy Turk

It is now widely acknowledged that a diagnosis, wherever possible, is of utmost importance to individuals who have developmental difficulties, for genetic reasons as well as to their families and car...

Table of contents

• Cover Page
• Title Page
• Copyright Page
• List of Illustrations
• List of Contributors
• Acknowledgements
• Introduction
• Part I: The child with fragile X syndrome
• Part II: Education issues
• Part III: Education strategies
• Part IV: Development, behaviour and psychology
• Part V: Family and social matters
• Conclusion