Autism Spectrum Disorder in Congential and Childhood Myotonic Dystrophy

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:

Study Background
57 individuals were included in the study. These individuals were classified as follows:

Severe Congenital Form: (18 individuals)
Myotonic dystrophy present at birth and additional life threatening illness of respiratory distress, low Apgar score, need for resuscitation, seriously ill and in danger of dying at birth without intervention. All of the individuals in this group were male with a maternal link to myotonic dystrophy. Median CTG repeats 1600 with a range of 730-2400

Moderate Congenital Form: (18 individuals)
CongenitalMyotonic Dystrophy present at birth but no life threatening illness. There were 3 paternal links to myotonic dystrophy in these individuals. Median CTG repeat 1000 with a range of 100-2100

Childhood Myotonic Dystrophy (18 Individuals)
These children were Classified according to Koch’s classification (1991). The median CTG repeat was 930 with a range of 260-1300
1. Onset of Myotonic dystrophy between 1 and 10 years)
2. An uneventful pre and post neonatal period
3. Normal development the first year of life
4. Increasing issues as a toddler
(a) failure to thrive, accompanied by abdominal issues
(b) variable degree of mental retardation
(c) variable degree of muscle myotonia
(d) clincial myotonia not observed before school age

Classical Myotonic Dystrophy DM1 (2)
The disease begins showing in adolescents and shows slowly progressive muscle weakness, myotonia and/or along with multi-organ involvement. (Harper 1991)

Autism Spectrum Conditions and Mental Retardation in Studied Children 
AD n=20 ALC n=7 AS n=1 ASC n=29
 Male/Female  13/7  3/4  0/1  15/14
 DM1 Form
   Severe Congenital M/F  6/4  3/0  –  6/0
   Moderate Congenital M/F  5/2  0/4  0/1  3/3
   Childhood M/F  2/1  –  6/9
    Classical M/f  –  –  –  –
 Intellect.
    Severe MR M/F  5/3  –  –  3/0
    Moderate MR  M/F  7/2  2/2  –  5/7
    Mild MR M/F  0/2  1/1  –  6/3
    Borderline IQ  M/f  1/0  0/1  0/1  0/2
    Normal IQ M/F  –  –  –  1/2

AD= Autistic Disorder, ALC= Autistic Like Condition AS= Asperberger Syndrome, Autism Spectrum Condition, Intellect= Intellectual level, MR=Mental Retardation

So what is Autism disorder here is a scientific view and then I have added a more simplier Explaination.  You can see from below that you need 6 items to be checked off the list with at least 2 from section A and one each from B and C. The medical profession can evaluate using several standardized tests:

Diagnostic Criteria for 299.00 Autistic Disorder

====================================================================== The following is from Diagnostic and Statistical Manual of Mental Disorders: DSM IV

(I) A total of six (or more) items from (A), (B), and (C), with at least two from (A), and one each from (B) and (C)

      (A) qualitative impairment in social interaction, as manifested by at least two of the following:
          1. marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction. [NONVERBAL ACTIONS TO COMMUNICATE]

 

          2. failure to develop peer relationships appropriate to developmental level. [DOES NOT FORM RELATIONS WITH OTHER STUDENTS]

 

          3. a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people, [e.g., by a lack of showing, bringing, or pointing out objects of interest to other people]

 

          4. lack of social or emotional reciprocity [ note: in the description, it gives the following as examples: not actively participating in simple social play or games, preferring solitary activities, or involving others in activities only as tools or "mechanical" aids]

 

        (B) qualitative impairments in communication as manifested by at least one of the following:

          1. delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) [SPOKEN LANGUAGE DELAYED OR NOT PRESENT}

 

          2. in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others {CAN NOT START OR KEEP A CONVERSATION GOING]

 

          3. stereotyped and repetitive use of language or idiosyncratic language. [REPEATS PHRASES AND LANGUAGE]

 

          4. lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level {DOES NOT PLAY MAKE BELIEVE OR NORMAL PLAYING]

 

        (C) restricted repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at least two of the following:

          1. encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus. [FOCUS ON PATTERNS OR THINGS WITH DETERMINATION AND FOCUS THAT SEEMS ODD]

 

          2. apparently inflexible adherence to specific, nonfunctional routines or rituals [ROUTINES AND PATTERNS THAT ARE INFLEXIBLE]

 

          3. stereotyped and repetitive motor mannerisms [e.g hand or finger flapping or twisting, or complex whole-body movements

 

        4. persistent preoccupation with parts of objects

(II) Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years:
(A) social interaction
(B) language as used in social communication
(C) symbolic or imaginative play

The researchers found that there was a correlation between the severity of the myotonic dystrophy and ASC and also a correlation to the Number of CTG repeats. The ASC is not typical of the passive type ASC described by Wing in 1971 with reduced spontaneous social interactions but open to the passive acceptance of approach  approach by others. In ASC spontaneous repetitive behavior and stereotypes are common as is self destructive behavior. No self destructive behavior was seen in this study and this self destructive behavior has not been reported with myotonic dystrophy

Additionally,  there was Reduced initiative and slow pace by the individuals in the study due to perhaps muscle weakness and hypersomnia associated with the disease.

Am J Med Genet B Neuropsychiatr Genet.2008 Sep 5;147B(6):918-26.Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.

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