Trip to the MDA Clinic

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Each kid in the USA gets to go to the MDA clinic a couple times per year. These clinics are great and allow you to meet with Dr’s and Nurses. The MDA pays for the visit if you do not have insurance. They also help with payment for stroller, wheelchair, etc. if you do not have the money to pay for this.
MDA Clinic at California Pacific Medical Center in San Francisco, CA USA (415)921-2101

At the Clinic you will meet with:

  • Nurse who takes Blood Pressure weight etc.
  • Doctor who checks on physical well being
  • Social Worker
  • Physical Therapist
  • Occupational Therapist
  • Speech Therapist
  • MDA Representative
We usually go to clinic once or twice per year. It helps to give some perspective. and to see what is going on with the MDA and get the knowledge of these workers.

We usually go to clinic once or twice per year. It helps to give some perspective. and to see what is going on with the MDA and get the knowledge of these workers.

Chris does not like to go to Doctors and Hospitals etc. So he usually is a little upset at first. But then he calms down. We usually bring his radio or tape recorder and this calms him down a bit.
Here is Chris and Dad at the Clinic. Chris really likes his radio and we have tape and book sets that he really likes.

Chris can entertain himself with the his radio and books quite well.
Here is Chris with Aunt Lori in the waiting Room. My sister helps me a lot with Chris. Thanks Lori!

Here is Dr. Mednick at the Clinic. He is great and spent a lot of time with us. He has been with MDA for a very long time and knows his stuff. Very good with patients. He’s only there two days a month so make sure you go when he is available. Dr. Mednick phone is (415) 921-2101 FAX (415) 457-0602
Here is one of the great therapists. She was very helpful. See the pink tube. This is a nice toy that Chris really liked. It helped focus his attention

So that’s the good. What you should not expect is that the Clinic will give you a lot of new information. If you’ve read this page you probably know more than the staff about this condition. Be proactive. We got a 12 lead ECK done with Chris when we were there last. It helps to have all the tests as a base line so the Doc’s can know what to expect. Some people have reported not good experiences at their clinics. We have been to three different clinics. One in Rockford, IL USA, One in Chicago, IL USA and this clinic in California. Each one does things a little different. The California clinic was different in that that had a knowledge doctor who spends time with you. The head of the Clinic Dr. Miller is great but really busy. He spent about 3 minutes with us versus the 50 minutes with Dr. M. So you can tell this clinic is sharp as they take care of patient needs in a very effective manner. You’ll find each clinic a little different… We’ve found that clinics in rural area’s are not as knowledgeable. They probably see less patients and therefore do not know as much. Help to educate them and give them this web site. Don’t expect them to read it though. Dr’s are very busy and have little time for education when real patients call. If you find one with knowledge make sure to stick with them and let me know. I will post their name on the site.
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Mental Retardation

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MENTAL RETARDATION

What does this term mean? Mentally retarded (MR); meaning a persistent, global delay in cognitive development.   The degree of MR will vary in CMD and CMyD. As a general rule all patients with the congenital form will have a lower IQ than the parents and possibly mental retardation. Some or most other forms of Myotonic Dystrophy will have a lower IQ than what would be predicted from their family background but will not approach the level of MR. This is sometimes a very difficult aspects for families to accept.  The reason for this is not known at this time.

The IQ levels of Children with Congenital Muscular Dystrophy is lower than affected peers. The Roig study showed a 24.5 drop in IQ between the mother and her child. THE WISC (Wochler Intelligence Scale for Children) shows a mean verbal IQ of 56 and a performance IQ of 47.7.Recent Study by Kobayashi showed of 50 patients with MP-CMD 4 had IQ under 80 all the rest showed no sign of mental retardation. Thus, the incidence of mental retardation with the Merosin Positive Type of CMD seems lower than other types. FCMD patients usually have marked mental retardation with an IQ usually below 50. The underlying cause for MR is probably of multiple origins. Most of the MR is present from birth there is no global evidence of intellectual deterioration in children with CMD. It is unlikely that the MR is due solely to anoxia (Lack of Oxygen) during birth although this could be a contributing cause.

Most likely the significant part of MR is due to the underlying cerebral abnormality due to the Myotonic Dystrophy Gene or the Maternal factor that seems to be acting in the congenital form. Information from Brain scans show that enlargement of the ventricles (spaces within the brain) this may be a contributing factor. Infants with CMD also have a high frequency of Intraventricular hemorrhage. Thus MR probably is the result of multiple causes.

Here is the result of one study. the study indicates that changes in the brain alone do not entirely explain the lower IQ or mental retardation that occurs:

The Brain Involvement in Congenital Myotonic Dystrophy: a Review
Carlo P. Trevisan and Francesco Martinello
Dipartimento di Scienze Neurologiche e Psichiatriche, Universita’ di Padova, Padova, Italy

The congenital variant of Myotonic Dystrophy (CMyD) is transmitted by the affected mothers to children with the CMyD gene, in the region q13.3 of chromosome 19, carrying a CTG repeat length larger than 1000. We reviewed the brain abnormalities reported to date in series of cases with Congenital CMyD and compared them with our data on patients affected by the same disease. Studies of molecular genetics on cases with Congenital CMyD were also considered. In our experience and as seen in recent reports, evaluation of intellectual ability in such children clearly indicates that mental retardation of mild or moderate degree affects almost all the patients with the disease. At the neuroimaging evaluation (CT or MRI) the vast majority of them have also been shown to be affected by central white matter changes and ventricular enlargement, usually not of severe degree. Correlation among the degree of mental retardation, the ventricular enlargement and the white matter changes seems lacking. In our experience, it seems inconsistent also the relationship between the size of the CTG repeat expansion in peripheral blood cells DNA and the degree of the clinical and neuroimaging alterations presented by children with Congenital CMyD, even though all showing a trinucleotide expansion larger  than 1000. Altogether, the congenital variant of the Steinert’s disease appears as a myoencephalopathy of the newborn, that is only partially explained by the characteristic large  trinucleotide expansion on chromosome 19q13.3.

Key words: congenital myotonic dystrophy, CTG repeat expansion, mental retardation, brain MRI, review.

Basic Appl. Myol. 7 (5): 339-344, 1997

Prof. Carlo P. Trevisan, Clinica Neurologica II, Università di Padova, Via Vendramini, 7, 35137 Padova, Italy.

So what does this all mean to you a parent or teacher? The IQ level will be affected so the person will not be as smart as they would have been without the disease. In some cases this will be quite severe. In others not as severe.

In any case right now there is no treatment. This is probably one of the hardest things for parents or people who have the disease to accept. After some struggle this fact will be accepted and life will go on. And we will struggle to make the best of this difficult circumstance.

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Myotonic Dystrophy Booklet Vermont Genetics

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MYOTONIC DYSTROPHY BOOKLET

(EDITORS NOTE THIS IS AN OLDER PAMPHLET UPDATED INFORMATION IS IN BOLD)
MYOTONIC DYSTROPHY An informational booklet for individuals and families
Written by: Wendy C. McKinnon, M.S., Genetic Counselor Vermont Regional Genetics Center
Introduction

This booklet is written for individuals and families with Myotonic Dystrophy, also known as Steinert’s disease or Dystrophia Myotonica (DM). The booklet describes what DOM is, how it is inherited, and recent discoveries about DM.

DM is an inherited disorder that affects about one in every 8000 people. In general, DM consists of muscle weakness and myotonia (inability of muscles to relax after use) which gets more severe over time. Specific problems in other systems of the body can also occur. Since DM can affect many tissues and organs it is called a “multisystem” disorder.

Myotonic Dystrophy is an extremely variable condition. It can vary in severity, the systems of the body it affects, and the age of onset, even in the same family. People with milder symptoms may never require special medical attention and thus never be diagnosed as having DM. On the other hand, newborn babies who are more severely affected may die during infancy without the diagnosis of DM ever having been made. If a newborn is diagnosed with DM, this may be the first time the family learns about the condition. Recent discovery of the gene alteration which causes DM helps explain this condition’s incredible variation.

What are the clinical features of Myotonic Dystrophy?

It is important to realize that any one individual with DM is unlikely to have all of the features described here, but will probably have some of them and these may vary greatly from one individual to another.

Personal Stories ::: What are the clinical features of Myotonic Dystrophy?
It is important to realize that any one individual with DM is unlikely to have all of the features described here, but will probably have some of them and these may vary greatly from one individual to another.

DM primarily affects muscles and these will be described first. Myotonia refers to the slow relaxation of muscle following contraction, resulting in muscle stiffness. For example, following a forceful grip, the individual with DM may have delayed release of their grip. This may cause difficulty in releasing objects such as door handles, cups, tools, or bowling balls. Cold weather can make this worse. While myotonia is most obvious in the hands, it can affect other muscles as well. Some individuals with DM have little or no myotonia. Myotonia can be confirmed by an Electromyogram (EMG). An electromyogram involves insertion of a fine needle into the muscle and recording electrical activity, looking for evidence of myotonia.

Facial muscle weakness can be one of the earliest and most constant features of DM. There may be weakness and lack of movement of the facial muscles. Some individuals with DM are unable to whistle or retain air in their cheeks. Some people with DM describe difficulty drinking through a straw or blowing up a balloon, or getting food stuck in their cheeks. Facial muscle weakness may also make it difficult to smile.The muscles of the eyes can be weak, resulting in a “droopiness” of the eyelids which is called ptosis.Involvement of jaw muscles may give the face a hollow cheek appearance. More severe jaw muscle weakness may cause the jaw to hang open, dislocation of the jaw, locking of the jaw, difficulty in chewing, or “clicking” of the jaw.

The sternocleidomastoids are muscles in the neck and shoulder. Some people with DM have trouble lifting their head when they get out of bed due to weakness in these muscles. In addition, weakness of the shoulder muscles makes it difficult for some individuals with DM to lift their arms over their head for an extended period.DM commonly involves the distal (end) limb muscles. These include the forearm and hand muscles, as well as the muscles of the feet and ankles. Weakness of the hand and forearm can affect coordination and grip. Symptoms might include difficulty opening jars or holding small objects tightly. Weakness in the muscles of the feet and ankle may result in unsteady gait, tripping or stumbling.

What other muscles are affected in DM?

Speech requires the coordination of the muscles of the voice box (larynx), the throat , the tongue, the lips, and the roof of the mouth (palate). If any of these muscles are affected by DM, speech may sound slurred or indistinct. It is also common for individuals with DM to have somewhat “nasal” speech.

Speech requires the coordination of the muscles of the voice box (larynx), the throat , the tongue, the lips, and the roof of the mouth (palate). If any of these muscles are affected by DM, speech may sound slurred or indistinct. It is also common for individuals with DM to have somewhat “nasal” speech.

In the digestive tract, the muscles of the pharynx and the esophagus are primarily affected. The pharynx is the first passageway food moves through on its way from the mouth to the stomach, and the esophagus is the tube connecting the pharynx to the stomach.

Dysphagia is the term used to describe difficulty in swallowing which is common in DM. This is due to the muscles of the pharynx and esophagus having difficultly contracting and relaxing which creates difficulty swallowing and delays the entry of food into the stomach. Some individuals describe dysphagia as a sensation of “sticking” of food in the throat. Difficulty swallowing can sometimes be understood better with a barium swallow examination or esophageal pressure recordings. Eating and drinking small quantities slowly may help dysphagia.Individuals with DM may have an increased chance of gallstones.

The respiratory system includes the trachea, the lungs and the diaphragm. The trachea is the tube that carries the air we breathe from the mouth and nose to the lungs. The lungs transfer oxygen from the air we breathe to the blood. The diaphragm is the muscle just below the lungs which expands and contracts with each breath. There can be weakness of the respiratory muscles in DM. Also, as discussed earlier, weakness in the muscles of the pharynx and esophagus can cause delayed entry of food into the stomach. This delay, combined with weakness of the respiratory muscles, can result in entry (aspiration) of food into the lungs. This can lead to infections in the lungs, including pneumonia. Avoiding hurried meals or large meals at night and elevating the head during sleep may help prevent this problem.Hypoventilation refers to shallow breathing and is due to abnormalities in respiratory muscle function. Smoking worsens breathing difficulties.

How are the heart and blood vessels affected?

There is nothing unusual about the structure of the heart muscles in individuals with DM. However, there can be abnormalities in how the heart beats. An irregular beat is referred to as a cardiac arrhythmia. Some people have no symptoms as a result of a cardiac arrhythmia. Other people have palpitations (“fluttering”), chest pain or tightness.

What other systems are affected by DM?

Individuals with DM can have abnormalities of the endocrine system. The endocrine system consists of a number of glands that produce substances called hormones which are carried by the bloodstream to various parts of the body.

What is the age of onset of Myotonic Dystrophy?

Symptoms of DM can first occur at various ages. In fact, there appear to be four stages of onset: congenital (at birth), juvenile (childhood), classic (20-40 years) and late (after 40 years of age).

Symptoms of DM can first occur at various ages. In fact, there appear to be four stages of onset: congenital (at birth), juvenile (childhood), classic (20-40 years) and late (after 40 years of age).
Congenital DM refers to the presence of symptoms in the first month of life. The major features may include facial weakness, hypotonia (low muscle tone), respiratory problems, feeding difficulties, talipes (clubfoot). Delays in motor skills such as rolling over, crawling, and walking may also occur. Some degree of mental impairment will occur in individuals with congenital DM. For reasons not yet clearly understood, congenital DM almost never occurs unless the baby’s mother has DM herself – although she may have only a mild version of DM.

Occasionally, a woman with DM may notice decreased fetal movements during pregnancy because the fetal muscles may be affected. In addition, polyhydramnios (increased amounts of amniotic fluid surrounding the fetus) may occur. A fetus normally swallows and urinates amniotic fluid continually. In a fetus exhibiting symptoms of DM, there may be difficulty swallowing, allowing extra amniotic fluid to accumulate. Juvenile DM has its onset between the ages of 1 and 20 years, and classic DM has onset between 21 and 40 years of age. Symptoms in these often consist of muscle weakness, myotonia, and possible involvement of other organ systems. There may also be an increased chance of learning problems in school.

The mildest form of DM first occurs after the age of 40 years and is usually accompanied by cataracts. Some minor muscle problems such as jaw tightness or cramps in the hands may be present, or there may be no muscle problems at all.There is wide variability in the age of onset and the severity of the condition. Individuals who develop symptoms early in life will likely have a more severe form of DM; while those whose symptoms do not appear until later usually have a milder form.

The genetic nature of Myotonic Dystrophy

DM is caused by a genetic alteration in the myotonin protein kinase gene located on chromosome 19. Since our chromosomes come in pairs, we have two copies of the myotonin protein kinase gene. A person with DM has a genetic change or alteration in one of their two copies of this gene.

DM is an autosomal dominant condition – only one copy of the gene with the genetic alteration is necessary for DM to occur. DM affects both males and females equally; however, females with DM are much more likely to have a child with congenital DM than are males with DM.

The inheritance of DM follows an autosomal dominant inheritance pattern as illustrated. An individual with the genetic alteration found in DM has a 50% chance of passing on the genetically altered myotonin protein kinase gene to any child.

A child who has inherited the genetically altered myotonin protein kinase gene will develop some or many features of DM. Their age of onset may be the same or different from the parent’s.

 

What is the genetic alteration in the myotonin protein kinase gene?

The genetic alteration found in the myotonin protein kinase gene is a repeating sequence of three specific nucleotides (the building blocks which make up DNA, which in turn make up genes).

Can the clinical features vary from person to person in the same family?

Problems can range from very mild to very severe even within the same family, and it is not always obvious who in the family has the DM gene alteration.

What if a doctor suspects an individual has Myotonic Dystrophy

If a doctor suspects that an individual has DM because features of the condition are present, genetic testing may be performed to confirm the diagnosis. Genetic testing involves obtaining about two teaspoons of blood. DNA is isolated from blood cells and then the number of CTG repeats in the DM gene can be determined. Testing takes an average of 2-3 weeks. Its cost varies somewhat but in 1994 is approximately $300.00
What if an individual has no clinical features of DM but has a family history of DM?

If an individual diagnosed with DM is identified as having the CTG repeat expansion, a family member who has no features of the condition may also consider having genetic testing.

What about having children?

When one member of a couple has DM, there are a number of options available when thinking about having children.When one member of a couple has DM, there are a number of options available when thinking about having children.
A couple can choose to have children and not have prenatal testing. If a couple decides not to have prenatal testing, they should inform the obstetrician and pediatrician of the family history. If the fetus inherits the DM gene, there could be complications during the pregnancy and/or in the newborn period.

A couple can choose to have a pregnancy and have prenatal testing for DM by either amniocentesis or chorionic villus sampling to find out if the fetus has inherited the DM gene. Prenatal testing is described in the next section.

A couple can choose to adopt children because they want to significantly reduce the chance of having a child with DM.

A couple can choose to use sperm from an unaffected donor when a man has DM, or an egg from an unaffected donor when a woman has DM. This would significantly reduce the chance of having a child with DM.

Now available a couple can choose to have pre-implant diagnosis and then invitro fertilization. The egg is fertilized outside of the body, then tested to see if it has the myotonic dystrophy gene. Only healthy non Myotonic dystrophy embryos are then implanted into the women’s uterus for development.

It is important to remember that there is no right or wrong choice to make with regards to having children. Everybody has different experiences, thoughts, ideas, and opinions about the various options available.

 

Prenatal Diagnosis

Prenatal diagnosis is available to couples who would like to know during a pregnancy whether their fetus has inherited the DM gene from an affected parent. Prenatal diagnosis can be discussed with a genetic counselor. Pre-Implant Diagnosis is also available

Genetic Counseling

Genetic counseling is often useful for individuals and families with questions and concerns about specific genetic conditions

Treatments

There are no specific treatments currently available for individuals with DM. It is hoped that with advances in research, a better understanding of the underlying cause of DM will lead to specific treatments for its symptoms. Medications are available that your doctor can prescribe to reduce myotonia, especially if it interferes with daily activities. Physical therapy and occupational therapy, as well as regular exercise may help minimize the progression of muscle weakness. Ankle and leg braces may help support these muscles.Drug Treatments are underdevelopment by Isis Pharmaceuticals and others. These treatments will not be commercially available until 2017 or 2018 at the earliest.
Additional Resources

Myotonic Dystrophy Foundation
Menlo Park, CA USA
Muscular Dystrophy Association (MDA)
National Headquarters
3300 East Sunrise Drive
Tucson, AZ 85718-3208
Telephone (602) 529-2000 / Fax (602) 529-5300 The National Society of Genetic Counselors (NSGC)
Executive Office
233 Canterbury Drive
Wallingford, PA 19086
Telephone (610) 872-7608

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Fatigue – Summary Information from Netherlands

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Summary of Condition from Netherlands Task Force ::: FATIGUE
Summary of the lecture delivered by Professor Dr. A.R. Wintzen of the University of Leiden at the yearly meeting organised in October 1995 by the “Werkgroep Dystrophia Myotonica” for patients and other people involved in myotonic dystrophy

Complaints of fatigue are often heard and are not particularly related to muscular diseases; with many diseases fatigue is one of the symptoms. At the same time fatigue is a normal phenomenon with healthy people. Fatigue is mentioned with and without lack of sleep, with and without preceding “fatiguing” pursuits. Often “I am tired” means “I just don’t feel like it”. In daily life the word “tired” is used for a variety of situations with few correspondence.How about fatigue with people suffering from myotonic dystrophy? This disease is attended with muscle-weakness and if this weakness is substantial many things such as walking get more fatiguing. Yet this is not the type of fatigue patients or their inmates do complain about. There are two different problems which probably are related.

The first problem is an increased need for sleep, which often manifests itself in long sleeping or in taking a nap in daytime. It is noteworthy that the patients themselves feel it as “normal” or “just necessary” while inmates consider it as “too much”.

The second problem is that many patients often think it is difficult to settle down to something. The description of this feeling resembles strongly the feeling of all people at the end of a busy day: the spirit is gone and to-morrow is another day. But patients with myotonic dystrophy often feel like it before anything is done. For the (healthy) partner this is difficult to understand and it often causes resentful reactions.

Is there a background-reason? Research proofed that the cause is situated in those parts of the brain that define the rhythm of sleeping and waking. It is likely that the personal rhythm with myotonic dystrophy is rather “flat”, few difference between the mountains and the valleys. This causes a situation in which, expressing it exaggerated, you are always able to sleep and never really feel energetic. Besides it seems difficult to make the personal rhythm correspond with the surrounding world

How to cope with these problems? Before proceeding: At this very moment there is no general remedy. Nevertheless there is more to tell about it.An important starting-point in this is, that many patients discovered by themselves that a regular personal daily rhythm can be of great benefit. This means: getting up and going to bed at fixed times, irrespective of needs. This also applies to a holiday and the weekend. A “must” is found to be of help, for instance in case of a job or a fixed agreement. Some support can be found in medical treatment with a low dose of Efidrine, for instance once or twice a day 25 mg, in some cases a little bit more. With this dose there is no need for fearing subsidiary effects; but it can be helpful in suppressing the inconvenient drowsiness. It should not be taken late in the day because then is may hamper getting asleep. In the Netherlands this medicine no longer is registered; it is obtainable in the neat shape and in capsules.

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Behavior and learning info – summary from Netherlands

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Summary of the lecture delivered at the yearly meeting organised in October 1995 by the “Werkgroep Dystrophia Myotonica” for patients and other people involved in myotonic dystrophy. This lecture was prepared by S. Umans, J Steyaert and D. Willekens of Stichting Klinische Genetica Limburg, Maastricht and Centrum voor Menselijke Erfelijkheid, U.Z. Gasthuisberg, Leuven.

INTRODUCTION

The authors distinguish different types of myotonic dystrophy. Depending on the age when muscle complaints and other associated symptoms make their first appearance, they distinguish:

1) The mild type: often cataract is found at a relative young age without occurrence of other complaints.

2) The adult type affected with myotonia at adolescent age and having increasing muscle dystrophy between the age of 20 and 40 years.

3) With the juvenile type the patient as a child already has muscle-complaints and besides has learning- and speech-defects.

4) The early infantile type distinguishes itself from the juvenile type by the presence of light symptoms from birth on. These children show similarly to the congenital type feeding problems during their first year of life, in a lighter degree than the congenital type: Development difficulties (motor development, language, speech and learning difficulties at school).

5) The congenital type: the baby clearly suffers from serious muscle-weakness, as demonstrated by lack of foetal movements, problems with swallowing and respiratory problems at birth.

DESIGN OF THE RESEARCH PROGRAMME

Among adults having the adult type of myotonic dystrophy several studies were performed regarding intelligence and occurrence of depressions. The results prove that a number of persons with myotonic dystrophy have a lower IQ than expected. On the other hand up till now little literature is available dealing with the early infantile and the juvenile type and concerning the cognitive functioning and the possible emotional difficulties.

Therefore in Leuven and Maastricht in the centres for clinical genetics a research programme was started which probes for possible behaviour, learning and emotional difficulties within a group of children and adolescents having the congenital type, the early-infantile type and the juvenile type of myotonic dystrophy.

SUBJECTS

Up till now 8 girls and 7 boys between 7 and 18 years of age, were examined. Eleven of them were in their families the first known patients suffering from myotonic dystrophy; all of them were referred to the centre for clinical genetics because of a great variety of clinical problems. The remaining 4 children were their siblings and they themselves had some type of myotonic dystrophy.

Of these 15 children 3 had the congenital type, 5 had the early-infantile type and 7 had the juvenile type.

Within the group of the early infantile type the learning difficulties often were the first signal that alarmed the parents, thus causing diagnosis of myotonic dystrophy being made during the first years in the elementary school.

The intelligence was examined by the IQ-tests WISC-R or WAIS depending on their age. These intelligence tests examine the VIQ (Verbal Intelligence Quotient, this is the intelligence for which the language is needed) and the PIQ (Performance Intelligence Quotient, thinking with use of spatial insight without need of language). It is important to know that the average IQ of the population is 100.

Possible behaviour difficulties were investigated with the CBCL (Child Behaviour CheckList); this checklist was completed by the parents. It is a checklist with several items dealing with behaviour difficulties; the degree of occurrence is counted.

Possible occurrence of depression was examined in the older children by self-report questionnaires.

Children older than 12 years of age were asked to complete the Adolescent Temperament Questionnaire. This questionnaire produces a profile of and a rough idea on the temperament.

To investigate the occurrence of certain psychiatric problems typically related to children, their parents were interviewed with the help of a structured child-psychiatric interview: the Amsterdam Child-psychiatric Interview for Children and Adolescents (ADIKA), a Dutch version of the American DICA-questionnaire.

RESEARCH-RESULTS

INTELLIGENCE

The IQ’s of the subjects were between 50 and 95, with an average figure of 80. This figure is clearly below 100, the average IQ in the population. No clear difference could be established between the verbal and the performance part of the intelligence. The difference in disadvantage of the performance IQ, as found in some studies on adult patients with myotonic dystrophy, was not again found in this study of a small group of children.

Observations during the tests showed with 10 out of the 15 subjects concentration difficulties and a brief space of attention-time. In some children also other cognitive deficits were found ( among others: defects in spatial analytical thinking, wrong thinking-strategy etc.)

CHILD BEHAVIOUR CHECKLIST CBCL

The CBCL showed behaviour difficulties in the so-called clinical range in 5 out of 15 children. Particularly withdrawal, social problems and attention-deficits were often found through this checklist. Four of these children present a child-psychiatric disorder.

With children with problems in accordance with the CBCL the internalising complaints (fearful, reserved, depressive) dominate the externalising complaints (hyperactive, oppositional, aggressive).

DEPRESSION-SCALE

Two children showed depressive complaints on the depression-scale. Both these 2 children as some others, had to face several problems during their school-career: Low results from the beginning of the elementary school, being bullied and transfer to special education. These events represent important psychosocial stress factors, which can cause depressive complaints.

TEMPERAMENT-CHECKLIST

The results on the Adolescent Temperament Questionnaire were varying and showed no specific profile.

CHILD-PSYCHIATRIC INTERVIEW

The child-psychiatric interview showed with 9 out of the 15 subjects child-psychiatric problems. This figure is substantially higher than the figure found in the population.

Five children had Attention Deficit and Hyperactivity Disorder (ADHD). This is a disorder with the symptoms: concentration and impulsivity deficit and hyperactivity. In the whole group parents often mentioned impulsive behaviour and attention deficits, even in children who did not meet all the criteria for Attention Deficit and Hyperactivity Disorder.

Two children had a separation-anxiety disorder (difficulties with loosening themselves from their parents, which manifests itself in unruly behaviour at moments of separation and continuing concern about and fear of loosing their parents or that they will be harmed.

One child had a general anxiety disorder (extreme concern, afraid of making mistakes and fear connected with events in the future and past)

One child had an adjustment disorder with depressive mood, which is a result of poor performance at school and being bullied.

CONCLUSION

For the time being it is premature to jump to conclusions based on this research in this small group. The results of the assessment of the intelligence confirm earlier research in adults with the adult type of myotonic dystrophy. This research showed that several persons with myotonic dystrophy have a lower IQ than the population- mean. Besides, some children with myotonic dystrophy have attention deficits which interfere in their functioning at school.

Striking in this pilot study is the frequent occurrence of child-psychiatric disorders. It must be mentioned that these results were obtained by means of structured interviews. At the same time most children were in their families the first known patients having myotonic dystrophy, which means that within the group there were lots of physical problems. Within this context we should interpret these results.

It has to be stated that these findings should be checked within a larger group of children and the findings should be compared with a group of children suffering from another chronic disease before we can get more decisive conclusions.

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