Category Archives: Autism

Diagnosing Autism in Myotonic Dystrophy

Posted on by
Reply

Many Children and some adults may have autistic like tendencies or autism. Several studies have indicated that ASD or autism like behaviors are present in there children. It could be your child only a few of these symptoms. IT could be they have quite a few of them. You will need a multidisciplinary team to do a formal assessment. However, as a parent you can get a sense of whether or not your child has some of these tendencies. This information is from Autism Speaks. Here is some additional information to consider:

Symptoms

What Are the Symptoms of Autism?

Autism spectrum disorders (ASD) are characterized by social-interaction difficulties, communication challenges and a tendency to engage in repetitive behaviors. However, symptoms and their severity vary widely across these three core areas. Taken together, they may result in relatively mild challenges for someone on the high functioning end of the autism spectrum. For others, symptoms may be more severe, as when repetitive behaviors and lack of spoken language interfere with everyday life.

Continue reading →

Print Friendly, PDF & Email

Autism Spectrum Disorder in Congential and Childhood Myotonic Dystrophy

Posted on by
Reply

Issues and problems with children that have congenital or juvenile myotonic dystrophy are many and hard to pin down. One of the most asked questions is about Autism and do children with Congenital Myotonic Dystrophy have Autism or Autism spectrum disorder. The basic criteria more are defined below for Autism like Features are before 3 years old the following 3 features are delayed or not present:

(A) social interaction,
(B) language as used in social communication
(C) symbolic or imaginative play

The most advanced countries in the world studying these diseases are in the Scandinavian countries. Sweden has taken the lead in publishing a number of English studies that have helped understand this condition.  Dr, Eckstrom and others have done a fine job in the area of pulling more information out of surveys and studies to assist us with the understanding of this disease. This article is going to summarize the results of a study that was finished in 2008. There is a lot of information here so it will be a longer post:

Continue reading →

Print Friendly, PDF & Email

Congenital Myotonic Dystrophy

Posted on by
1
Congenital Myotonic Dystrophy is present at the birth of the Infant. A mother may notice excessive amniotic fluid or polyhydraminos. The mother may also notice less fetal movements than is normal.  The baby is born sometimes prematurely. It is a disease that will cause multiple symptoms in the baby. The link to the baby is the mother in almost all cases. For instance, out of 118 cases only 2 cases had any incident that the father was the carrier. However, Paternal transmission (by the father) is documented. (Paternal Transmission of Congenital Myotonic Dystrophy J Med Genet 1994;31518-520)  It seems as though the mother somehow causes the disease in the severe form. Some researchers postulate that there does not seem to be a genetic reason for the severe problems that may be caused by the disorder. It may be that the Myotonic Dystrophy in the mother somehow causes the severe congenital form.
In Sweden there is identified two types of congenital myotonic dystrophy, severe and moderate. In the severe type there is a life threatening condition at birth. This seems to be associated with male children more than female. With the moderate type of congenital myotonic dystrophy there is no life threatening condition birth. This information is contained in several studies as well as confirmed by by Ekstrom at a recent conference. The severe type will generally have more symptoms and more severe symptoms of the disease.
Congential as well as juvenile and adolenscent myotonic dystrophy are hard to diagnosis and identify. Part of the reason for this is that the medical profession does not recongnize this disease as a separate and distinct disease. They symtoms of congenital myotonic dystrophy are separate and distinct from mytonic dystrophy type 1. Thus, its hard for parents to identify the disease that their child may have. For example mental retardation and autism spectrum disorder are not symtoms of myotonic dystrophy. But they are symtoms of the congential or juvenile forms of the disease.

effects of Congenital Myotonic Dystrophy

Continue reading →

Print Friendly, PDF & Email