Neuromuscular Disorders, 2004
Victor Dubowitz, UK
Abstract
Major advances in molecular
genetics of Duchenne dystrophy over the past decade have generated a flurry of
attempts at potential cell and gene therapy, mainly in the dystrophin-deficient
mdx mouse. This has been accompanied by a fanfare of publicity, in both
scientific and lay press, producing waves of hope followed by troughs of
disappointment and frustration in both patients and their families and in the
scientific community. It has also spawned an additional problem in the use of
inappropriate terminology to describe clinical or pathological changes in
experimental animal studies, which have been equated with the human disease. It
seemed timely to address and hopefully redress the problem, and suggest some solutions,
aimed at finding a common language for basic and clinical scientists in their
therapeutic efforts in relation to Duchenne dystrophy. Core problems include
equating the mdx mouse, with its very mild clinical phenotype, and Duchenne
dystrophy; use of inappropriate and often emotive terminology to describe
pathological changes, such as ‘rescue’, ‘reversal’, ‘prevention’, ‘phenotype’,
instead of clear descriptive language; and use of the term therapy in place of
experiment in both laboratory and clinical experiments targeting single
muscles. A major missing link in these multidisciplinary efforts is the absence
of mouse doctors, who can define at a clinical level the motor, respiratory and
cardiac deficits in the dystrophic animal, and bridge the huge gap between the
mouse scientists doing experimental studies in the laboratory and the
clinicians and veterinarians caring for humans and dogs with these disorders.
Investigation of Poor Academic Achievement in
Children with Duchenne Muscular Dystrophy
Learning Disabilities Research & Practice.
19(3):146-154, 2004
Hinton, V. J.; De Vivo, D. C.; Fee, R.; Goldstein,
E.; Stern,Y. - USA
Abstract
Duchenne Muscular Dystrophy
(DMD) is a neurogenetic developmental disorder that presents with progressive
muscular weakness. It is caused by a mutation in a gene that results in the
absence of specific products that normally localize to muscle cells and the
central nervous system (CNS). The majority of affected individuals have IQs
within the normal range, generally with lower verbal than performance IQ
scores. Prior work has demonstrated selective deficits on tests of verbal span
and immediate memory. For the current study, 26 boys with DMD (and normal
intellectual function) and their unaffected siblings were evaluated. Paired
comparisons demonstrated that the children with DMD had significantly poorer
academic achievement scores than their siblings, even though their vocabulary
levels and home and educational environments were comparable. Children with DMD
also had more behavioral concerns, physical disabilities, and poorer verbal
memory spans. Linear regression indicated that behavioral concerns, executive
function, and physical disability did not contribute substantially to
academicperformance, whereas performance on verbal span did. DMD presents with
a selective developmental aberration in verbal span that has wide-ranging
consequences on learning skills.
Depression
in Parents of Children With Duchenne Muscular Dystrophy
PEDIATRIC NEUROLOGY Vol. 31(1): 16-19, 2004
Abi Daoud, MS; Dooley, JM; Gordon, KE – Canada
Abstract
This study examined
depression, self-esteem, and mastery in the family caretakers of a group of
males with Duchenne muscular dystrophy in comparison to a control group. A
questionnaire based on the National Population Health Survey from Statistics
Canada, a survey to collect information on the health of the Canadian
population and related sociodemographic information, was conducted by telephone
with 42 parents. The results were compared with the national data from the
National Population Health Survey (1994 and 1999), matched for province of
residence, number of children in the household, age, and marital status of the
respondents. Parents of children with Duchenne muscular dystrophy had a higher
probability of going through a major depressive episode and had significantly
lower self-esteem and mastery scores than the national control group. None of
the variables investigated (age, intelligence quotient, and ambulatory status
of child or sex, age, and marital status of parent) could predict the
depressive episode, with two exceptions. Parents without a partner had lower
scores on the mastery scale, and parents of males older than 13 years of age
were more likely to experience distress that interfered with life. It is
incumbent on those caring for patients with Duchenne muscular dystrophy to
counsel families regarding their potential to suffer a major depressive episode
and to advise on appropriate therapy.