Myotonic Dysrophy Drugs Lead Candidates for Fast Track Autism Spectrum Disorder Testing

NIH officials announced yesterday that a new contract has been let with UCLA to form a network of researchers at various academic institutions to identify promising new and older drug compounds to treat Autism Spectrum Disorder (ASD)  and to see if they merit additional investments.

The program is part of a new initiative called¬† “Fast Fail” intends to vastly speed up the drug development process and reduce the costs of this drug development. Instead of taking years of work to see if a drug works this Fast Fail process could see results within weeks. As ASD is a huge issue for the USa and other countries this fast testing with myotonic dystrophy drugs could lead to treatments in a much faster time frame.

Dr. James McCraken who is leading the effort at UCLA states “The Whole idea is just getting much better in these early phases at identifying drugs that are going to be efficacious and safe and thereby speeding the development of effective new therapies and reducing the overall cost”

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Personality changes

In standard Myotonic Dystrophy one of the main characteristics of the disorder are “reduced initiative”, “inactivity”, and “apathetic temperament” and social deterioration of the families through generations has been stressed (Caughey 1963)

Because the mother is most often affected with myotonic dystrophy it generally becomes necessary for other assistance to maintain some standard for care for the Child with CMD. Here is one researchers global comments:

“While in the country in search of certain “myotonic’s” homes , it was often possible to identify a residence by its neglected appearance, the obvious need of repairs, the unkempt yard and garden choked with overgrown grass and weeds, which provided a vivid contrast with the surrounding well-kept homes” (Caughey 1963) ”

We have often found that affected individuals, when just mildly incapacitated, were often content to sit or lie idly for hours”

Studies by Brumback found depression to be an integral part of Myotonic Dystrophy using the Hamilton Depression Rating Scale. Bird found that 28% of myotonic dystrophy Patients had high scores on the Minnesota multiphasic personality inventory. Others have found that depression was secondary to the Chronic progression of the disease. Cuthill suggests that depression might occur but that it was seen as a reaction o the disease. In 1998 Bungener published the following information:

Patients with Myotonic Dystrophy were not severely depressed but did present symptoms of mild depression. He mentions that the literature suggests a close association between depression and progressive diseases such as Myotonic Dystrophy.

Patients with Myotonic Dystrophy did have high levels of emotional deficit. It manifests itself as anhedonia (Total loss of feeling of Pleasure in acts that normally give pleasure), lack of expressiveness as evidenced by monotonous mood, apathy, and an inability to anticipate pleasure. This emotional deficit occurs early and researchers that found apathy and lack of motivation are the primary manifestations. Four of 14 patients exhibited an avoidance personality disorder

He concludes that: Patients with Myotonic Dystrophy present a characteristic emotion profile that of emotional deficit, with the deficit appearing early in the disease and which could be interpreted as an adaptive psychological process or a direct consequence of the CNS lesions caused by the genetic mutation.

It is important to understand the personality changes of patients with Myotonic Dystrophy. As it is an autosomal dominant disorder at least one parent generally the mother will have the disease. As the the mother may be the primary caregiver to the nuclear family the personality information that has been elucidated here will have a significant impact on the family.

Full Text studies

Link to personality Study
Link to Study of 25 women with DM
Apathy and Sleepiness
Brain disorder
List of References citing the incidence of CMD Risks of Offspring of Women with Myotonic Dystrophy (Harper 1972)

Normal 50%
Neonatal Deaths & Still births 12%
Severely Affected Surviving 9%
Later Affected 29%

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