DFSG | - Psychological aspects of DMD

PSYCHOLOGICAL ASPECTS OF DUCHENNE MUSCULAR DYSTROPHY: LEARNING POTENTIAL AND PSYCHOSOCIAL ADJUSTMENT.

Boys with Duchenne not only have physical and motor problems but may also have some specific associated psychological problems. Two problems are known to be of significant influence on the general functioning of these boys and their families: problems with learning potential and problems with psychosocial adjustment. In this contribution we highlight these aspects.

1. Learning potential and reading problems in Duchenne muscular dystrophy:

The debate as to whether these boys have a cognitive deficit has been going on since the disease was originally described by Duchenne in 1868. Besides the physical characteristics of this disease, there also appear to be characteristic cognitive changes and specific verbal disabilities. Duchenne himself already noticed these problems in his description of a seven-year-old boy: “The intellect was dull and speech was difficult. The temporal regions were extremely projecting as in hydrocephalics” (Brody & Wilkins, 1968). Besides a lower intellectual performance, Duchenne noticed specific language impairments and suggested a relationship between cerebral structure and cognitive functioning. Recent research confirms that the incidence of cognitive impairment is higher in boys with Duchenne. This might be explained by the finding that not only the muscles but also the brain can be affected by the lack of dystrophin

1.1. Learning potential in DMD.

Recently, Cotton and her colleagues (2001) summarised the results of 32 studies published since 1960. The studies involved in total 1224 boys with DMD (mean age 12 years and 4 months). The mean Full-scale IQ was 80.2 with scores ranging from 14 to 134, suggesting a considerable heterogeneity in intelligence among boys with DMD. Verbal IQ appeared to be somewhat more affected but not significant different from Performance IQ: mean Verbal IQ was 80.4; mean Performance IQ 85.6. Thus boys with DMD appear to have sub-average cognitive capacities. In a further analysis of these data Cotton et al. (2005) found that Full-scale IQ and Performance IQ did not change with the age in boys with DMD. On the other hand, significant age group differences were found for Verbal IQ, with mean scores improving with age. This suggests then that verbal impairments are more prevalent in younger children.

Boys with DMD also show specific cognitive deficits, more specifically, there seems to be a language-related deficit. Essex and Roper (2001) reported on the late diagnosis of DMD presenting itself initially as a global and language related delay. Of 18 boys, without a family history of Duchenne, who were diagnosed with DMD, 8 (44%) were first referred to health professionals because of concerns about language and cognitive development. Children, who fail to develop language normally in the absence of explanatory factors, such as neurological disorders, hearing impairments, and adequate environmental stimulation of language, are clinically described as having Specific Language Impairment (SLI).

1.2. Reading performances in DMD boys.

Children with a delay in language development and Specific Language Impairment are at-risk of developing reading problems at later age. Boys with Duchenne are also believed to be at-risk for later reading problems. Until now only two studies have been done on reading performances in DMD boys. Dorman, Desnoyers-Hurley & D’Avignon (1988) reported that half of the 15 DMD boys had deficient reading and/or spelling skills. Billard and her co-workers (1998) also reported that boys with DMD had reading difficulties, which is in accordance with the observation of Leibowitz and Dubowitz who already in 1981 noticed that “many children found reading particularly difficult”. In a extensive study of 25 Dutch boys with DMD we found five of them having serious reading problems; and another five having moderate reading problems. This means that reading problems are significantly more common in boys with DMD than in boys from a normal population. We found 40% of the boys in our study having reading problems not in accordance with their intellectual capacities. Reading is important for later education and development especially in boys with DMD. Therefore early screening of DMD boys at-risk for later reading problems is of great importance. It has been shown that with appropriate instruction and early intervention, at-risk readers can become both accurate and fluent readers.

2. Psychosocial adjustment and coping with stress in DMD.

Research has documented that children with physical handicaps are at an increased risk for experiencing emotional or behavioral problems. Between 20% and 30% of children with a chronic illness or disability will experience significant behavioral or psychological problems at some point during childhood or adolescence, a rate twice that of physically healthy children.

2.1. Psychosocial impact of DMD.

The psychosocial adjustment of children with Duchenne has some special areas of impact and is related to the age of the boy and the physical decline. These children often experience more anxiety when they start to fall and are not able to get up again on their own. Furthermore, as they grow older they discover that more exercise does not improve their physical condition. The decline in condition and regular medical assessments can increase their anxiety for physical decline. Boys with DMD, together with their families, are thus confronted with a lot of stressors with which they have to cope. This might results in a greater prevalence of clinically significant stress and behavioural/emotional morbidity. However, very little evidence is available concerning psychosocial adjustment levels in boys with DMD. In reviewing the literature we only found 10 studies since 1980 on this subject. In 1986 Fitzpatrick was the first author to systematically evaluate the prevalence of psychiatric problems in boys with Duchenne. He found that symptoms of depression of a varying degree of severity were common among 52% of the older boys with DMD. In reviewing these 10 studies it can be concluded that boys with DMD seem to adapt fairly well to their illness and its consequences. There is however an increased risk for emotional and behavioural problems: amongst them are social isolation, depression and anxiety. Results are not yet conclusive and further research is needed.

2.2. Assessment of psychosocial adjustment

There are only a few standardised instruments available that have been successfully used with children with a chronic illness. The Child Behaviour Checklist (Achenbach) which is widely used in children, is not recommended for use in children with chronic physical conditions. The Personal Adjustment and Role Skills Scale (PARS) III was developed by Stein and Jessop (1990) to measure psychosocial adjustment in children with chronic physical illnesses. The questionnaire has good psychometric properties and assesses six psychosocial domains that are associated with patterns of maladjustment in children with chronic illness: peer relations, dependency, hostility, productivity, anxiety/depression and withdrawal. We used this instrument in a study together with the PPMD (USA; Netherlands, Australia). The parents of 316 DMD boys (mean age 12.2 years; ages ranging from 3 to 38 years) completed the questionnaire. To our knowledge this is the first study to examine psychosocial adjustment in a large-scale sample of boys with DMD. This study then provides standardised norms for measuring emotional health in boys with DMD. Some of the results of this study will be presented.

2.3. Family stress and emotion coaching.

DMD is also associated with a higher percentage of parents reporting significant psychological distress. Stressors identified by parents include difficulties obtaining adequate resources, practical difficulties in providing care (e.g. lifting and toileting) and emotional reactions. Importantly, some parents report significant concerns about how to discuss DMD with their affected son. Research in other childhood disabilities has revealed an association between good psychosocial adjustment and good communication within the family about the disease. Open communication has been shown to be an important protective factor in stress. A study into the worries of parents of boys with DMD showed that parents worry most about when to tell what to their child. A good parental strategy in helping their boy in coping with stress and emotions is called “Emotion-coaching”. This consists of the following elements: (1) give attention to the emotion, (2) accept and respect it, (3) give it a name, and (4) solve it if possible. When using emotion-coaching parents are the coach of the emotions of their boys and learn them to see emotions as opportunities to learn from. Research shows that emotion-coaching contributes to the well-being of children.

3. In conclusion.

The previous sections shortly reviewed the potential emotional, cognitive and learning issues that boys with DMD may experience. Boys with DMD are not only thwarted by the inevitable physical deterioration of the disease but also by emotional and behavioral problems, impaired cognitive functioning and learning difficulties. It is important for parents, physicians, and other caregivers to remain cognisant of the psychological vulnerabilities of these boys. Further research is needed to help elucidate these issues. What we learn form the few studies until now is that (1) early detection is important for early intervention and prevention and, (2) parents and boys seem to adapt fairly well to their illness and its consequences.

Dr. Jos Hendriksen Ph.D.