Dr. Eckstrom Doctoral Thesis on Childhood Myotonic Dystrophy

Here is a copy of Dr. Eckstrom Thesis on Childhood Myotonic Dystrophy. Its pretty comprehensive and a bit technical. Click below to open a PDF Copy. The thesis is almost 90 pages long and full of a lot of good information. Dr. Eckstrom is one of the leaders in the knowledge of childhood myotonic dystrophy and Autism

EckStrom Doctoral Thesis Childhood Myotonic Dystrophy



DM1 in childhood shows a great variability with regard to symptoms and age at
onset. Based on age at onset and presenting symptoms, the individuals were divided
into severe and mild congenital, childhood and classical DM1. At the individual
level, the size of CTG repeat expansions cannot predict the DM1 form. No clear
phenotype-genotype correlations were found even though the largest expansions
were present in the severe congenital group.
Children with DM1 were significantly weaker than healthy controls in most of the
assessed muscle groups but there was great variation regarding the degree of muscle
weakness. Motor function was significantly reduced in children with DM1 compared
to healthy controls.
Almost half the study population had ASC (autistic Specrum Condition) and AD (autistic Disorder)  was the frequent ASC diagnosis.
ASC did not predict the level of LD (Learning disability) Both conditions should be regarded as a consequenceof the disorder.
In the present study, most of the children and adolescents with congenital and childhood
DM1 had LD, usually in the moderate to severe range. Almost all the participants
showed poor adaptive skills.
Compared with the controls, the children and adolescents showed a high prevalence
of visual dysfunction with impact on the developing visual system, such as low visual
acuity and refractive errors. No true cataract was found. Subtle non-specific fundus
changes were present in addition to VEP pathology. In DM1, a variety of visual
function pathologies are present with impact on the developing visual system.
The size of the CTG repeat expansion had an impact on several variables. The frequency
of ASC increased with increasing CTG repeat expansions. Motor function,
FSIQ and BCVA and VABS presented lower values in individuals with larger expansion
size. Maternal inheritance had a negative impact on intellectual and adaptive
functioning. The more severe the form of DM1, the more reduced the motor function
and BCVA and the higher the frequency of ASC and LD.
In everyday life, it appears that individuals with DM1 primarily suffer from their
CNS-related symptoms, such as cognitive deficits, day-time sleepiness, neuropsychiatric
problems and visual dysfunctions, rather than their neuromuscular symptoms

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