Activities that Children like

Activities That Children Like

So what kind of things do kids with CMD like to do? I am basing this page on my son, Christopher. You may want to consider some of these activities for Children with CMyD.

picture of kid with mac

Computer

Computer games and video and movement in general seems to keep these kids interested. Christopher uses both a MAC and a PC computer. Early on he used an Edmark Touchscreen but later graduated to a mouse after he hit and damaged the touchscreen. He uses most software that has an age equivalent of about 3-8 years old with most of his skills in the 4 year old range. Some software:

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Children and behaviorial Problems

Behavioral Problems

Both the Roig Study and some personal correspondence have indicated that older children with CMyD have some behavioral issues that might evolve. I only have very scant information on this subject but here are a few behaviors that have been seen:

Oral Fixation: Children or young adults become quite oral and will suck on hands or clothing.

Spontaneous Laughter: Will laugh to some internal thought for no external reason.

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Mental Retardation

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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Otitis media. – Ear infections

 
OTITIS MEDIA(OM)
OTITIS MEDIA(OM)
Is currently the most common childhood disease with peak incidence in the first two years of life. Although OM during childhood is nearly universal, about 5-20% of children have recurrent OM and chronic OME. Besides age, several characteristics have been identified as risk factors of OM, including male gender, Caucasian, and Native American race, and family history of OM. Children with CMD are at risk for OM. Why is this? Two theories. One is that the growth of the skull with Children with CMD may affect the drainage of the ear. The other theory is that the muscle that regulates the Eustachian tube does not function properly. The Eustachian tube has 3 principal functions of

 Allowing air into the ear to ventilate
 Protection of the ear  (closing tube off)
 Allowing fluids to drain from the ear

It is still not know why ear infections continue to plague children with CMD.

 

Defined: Otitis Media (Ear infection) is defined as an inflammation of the middle ear.

Recurrent Otitis Media: There are several definitions.. Three episodes of OM before age 1,3, 0r 7……..Six or more episodes before age 6…… six or more episodes in a 12 month period

Otitis Media  can be observed in children with and without symptoms. The most common symptoms will be related to respiratory infections. Other symptoms may include earache, loss of appetite, fever, restless, sleeplessness

Antibiotic Treatment:

Antibiotic treatment is becoming more complex and more bacteria have a high level resistance or reduced susceptibility to commonly employed antibiotics.  Children may also benefit from antibiotics given prophylacticly (as a precaution against infection returning) Sulfoamides and Amoxicillin would be the two agents of choice according to   Roberts. Amoxicillin should be restricted, however, as it might promote resistant bacteria. Sulfoamides showed an 86% reduction in OM in one study.

Surgery-Placing Ear Tubes

Myringotomy with Tympanostomy tube insertion is the most common surgical procedure performed in children requiring general anesthesia. The reported rate of Myringotomy in 1986 in USA was 58,000 cases. The procedure is basic to cut a small slit in the eardrum and to insert a small tube to allow for ventilation and drainage. The procedure is almost without pain. For older folks who can hold still it can be done without a general anesthetic. For kids a general anesthetic is required in most cases. The tube will stay in for about 6 moths unless a long term tube is inserted,

Indications for Surgery: Recurrent Otitis Media refractory (not responding to) to antibiotic therapy, persistent OEM for greater than 3 months with associated hearing loss greater than 20dB

Tubes can be of Short term or long term insertion. Longer term tubes might be indicated if recurrent Otitis Media continues to occur. There are some downsides to longer term insertion though. Some studies follow on long term tube

 

Management of Otitis Media for CMD

First parents must be very diligent in reviewing this problem  as the chance for Ear Infections is very high. Sometimes the children will not report the symptoms with OM. My son Christopher for example we find out that he has this condition when he stops eating, is listless, and has a temperature. When we even suspect this we make sure that he is seen that same day and antibiotics started.

Chris has had 5 sets of ear tubes put in all of the short variety. These seem to immediately clear up his ear infections. However, they have only stayed in for a short period of time and then they disappear. You have to be careful about getting water in the ear with swimming and showering. Chris had the more secure T tubes placed when he was 9. These work well and will stay in for a longer period of time

 

Hints: Find a hospital and doctor that is willing to work with you. You will need to educate them on this subject and particularly that kids with CMD have high susceptibility to this disease. We knew very often that Chris would have an ear infection and would make an immediate that day appointment with the pediatrician.

For Surgery find a kid friendly hospital. We have gone to two hospitals. One required a lot of pre surgical workup including drawing blood. Chris has tiny veins and it was much more traumatic to draw the blood than to have the surgery. Find a center that does not require this for young kids with ear tubes.

Remember that you can do ear tubes in a doctors office and it is a relatively easy procedure. You just can move at all during the procedure. Therefore kids have to be put under anesthesia. But the procedure only takes 5-10 minutes at most.

So insist on some kid friendly procedures or find another center!

 

Make sure that you are actively managing your children’s medical care and that the doctor knows that CMD has a high correlation with ear infections.

Long-term middle ear ventilation with T tubes: The perforation problem

 

By Richard L. Goode, MD, Stanford, California

Some 1 million ventilation tube insertions are performed each year in the United States. The majority of these are for otitis media with effusion (OME) in children using tubes that remain in place for an average of 6 to 8 months. Because the failure rate of these short-term tubes is approximately 20%, the otolaryngologist must decide in unsuccessful cases whether to again try medical treatment, reinsert a short-term tube, or switch to a long-term tube, such as a T tube, which will remain in place an average of 36 months. By arbitrary definition, short-term tubes are those that remain in place for less than 12 months, whereas long-term tubes remain longer than 12 months, usually an average of 24 to 36 months.

Although the obvious surgical solution to failure of a short-term tube is to increase ventilation time by inserting a long-term tube, long-term tubes produce certain complications that increase with time; the most serious of these is permanent tympanic membrane (TM) perforation after removal or extrusion of the tube. Although this outcome may be desirable in some cases, it usually requires later closure with a myringoplasty after recovery of eustachian tube function.

There are a number of reports in the literature on the incidence of permanent TM perforation after long-term (years) middle ear ventilation with the T tube. In 12 studies the incidence of this complication varied from 3.0% to 47.5% (3.0% and 3.8% in 2, 5.5% to 7.1% in 6,12.0%to 16.7% in 3, and 47.5% in 1 study), with a mean of 11.5%. If we eliminate the lowest (3%)and the highest (47.5%) studies, the mean is 8.8%. This is significantly higher than the 0.5%to 2.0% perforation incidence reported for short-term tubes (although in some series the incidence is much higher).

Although the reasons for the differences between series are not clear, some principles are evident that can be applied to achieve a low incidence of perforation.

Status of the TM

Insertion of a T tube through a damaged TM, because of either previous tube placement or middle ear disease, appears to produce a higher incidence of perforation. Matt et al. found a 0% perforation incidence when the TM was minimally retracted and a 21% incidence with marked TM retraction. If at all possible, the T tube should be inserted through a normal area of the TM; if the entire TM is abnormal, a higher incidence of early extrusion and perforation should be expected.

Duration of Ventilation

In individual OME cases, the minimum ventilation time needed to achieve a cure is not known. This is particularly true when a previous tube has failed, presumably because it came out too soon. This suggests that a longer ventilation time is required but does not define how long. Because the incidence of perforation increases the longer a tube is in place, another way to decrease this complication is to remove the T tube sooner than the average 36 month retention time. What is a reasonable treatment time that is likely to be successful with an acceptable perforation incidence? In the usual case, I would suggest 18 months as the time to consider removal. This period is about three times longer than the average duration of a short-term tube and would be expected to produce a perforation incidence about three times that of a short-term tube, around 4% to 6%, all else being equal. In my opinion, this is an acceptably low perforation rate. After this time period, the incidence gradually increases to the 8.8% level (average of 10 studies previously noted) at 24 to 36 months and then levels off.

Inglis et al. found that the average time for T tube retention in ears with no perforations was 17.5 months, whereas the average time in the perforation group was 21.5 months. They also recommended consideration of removal at 18 months.

Because the T tube has the unique property that it can usually he removed painlessly in the office without anesthesia, its duration is under the control of the physician. Unfortunately, it may not be obvious whether 18 months is an adequate duration so that tube removal is not followed by another recurrence of OME. In many cases it may be wiser to warn the parents of the increasing complication rate but to leave the tubes in place. Moving the tubes from one TM site to another at 18 months is a consideration but would require another anesthetic.

Other factors are important in this decision, including age, size, other tube complications (drainage, plugging), time of year, and so forth. Regular eustachian tube testing during the ventilation period has been advocated by some authors to determine whether adequate function has returned. Although such testing can be helpful in the removal decision, repeated eustachian tube testing is not routinely used.

Early summer is a good time for removal because OME and upper respiratory infections are less common and water sports are more popular. In bilateral cases one tube can be removed at a time; the second tube is removed 4 to 6 weeks later if the first ear is doing well. If the

OME recurs, the tubes are reinserted at a different site in the TM.

Not All T tubes Are Alike

The “softness” of the tube and the length of the flanges can be factors and may differ from manufacturer to manufacturer. For example, silicone rubber can vary from a durometer of 15 or so (soft) to 45 (hard); softer and shorter flanges appear to produce less damage to the TM on extrusion. Although no definitive data are available, it is my impression that the average retention time correlates well with flange length; shortening the flange length by half, from 4 to 2 mm, decreases retention time by half, all else being equal. This would decrease the T tube average retention time from 36 to 18 months. A tube with 3-mm flanges would remain in place for 27 months, whereas a tube with 1.5-mm flanges would remain in place for about 13 months.

Removal Versus Extrusion

Removal of T tubes appears to produce fewer perforations than extrusion. Matt et al. found a 0% incidence of perforation when T tubes were removed, rather than allowed to extrude. Removing a tube earlier rather then waiting for later extrusion may be more important than increased TM trauma caused by extrusion.

Risk/Cost Considerations

In adults, tubes can be inserted at the physician’s office with the patient under local or topical anesthesia, so cost and risk are relatively low. This is not the case in young children or infants, in whom a general anesthetic and surgical facility are required, increasing the risk and cost. The goal is to produce a cure with a minimal number of procedures. Certainly two or more short-term tube insertions are not as desirable as one long-term tube insertion,assuming the same cure rate. Are two short-term tube insertions much different from one long-term tube insertion and a later fat plug or fascia myringoplasty? Assuming two general anesthetics in each case, the difference to the patient may be small. Cost may vary depending on whether a “package deal” is available for tube insertion but not for myringoplasty.

OME cases suspected of requiring long-term ventilation for cure (children younger than 2years and children with craniofacial anomalies, cleft palates, allergies, etc.) should have along-term tube inserted as the primary tube to minimize the failure rate. As the risk of perforation increases with time, the tubes can be moved, removed, or left in place, depending on the ease.

In summary, I suggest that the best treatment solution after failure of a short-term tube for OME in children is to insert a soft-flanged T tube, ideally though a normal area of the TM, and to reassess it at 6-month intervals regarding need. Shortening the flanges to 2 to 3 mm maybe advantageous in some cases. At around 18 months, assuming no evidence of continuing eustachian tube dysfunction, tube removal in the office can be considered and discussed with the parents. If perforation rates greater than 4% to 6% are considered too high, the tubes can be removed; otherwise they should stay until the physician believes a cure has been obtained. It is hoped that with improved eustachian tube testing, identification of when a tube can be removed will become a science rather than an art, as it is now.

 

Lowering the Incidence of Perforation Following Goode T-Tube Removal

Presented at the American Society of Pediatric Otolaryngology Annual Meeting May 19th,

1990, Toronto, Canada

by Andrew F. Inglis, Jr., M.D.; Mark A. Richardson, M.D.; Taya S. Higgins, R.N.

Abstract

A recent report has described an alarmingly high incidence (12%) of tympanic membrane perforation following T-tube insertion. This prompted a prospective study of our experience. All patients at Children’s Hospital and Medical Center undergoing elective removal of T-tubes by the first author between 6/1/89 and 8/31/89 were evaluated for tympanic membrane perforations. In cases where spontaneous extrusion occurred in the contralateral ear, the findings in these ears were included as well. Follow-up was performed at one month in all patients and at three months in patients with tympanic membrane perforations. One hundred four (104) ears completed the study. Seven ears had persistent perforations, for a perforation rate of 6.7%. One of these perforated ears had a mild (22dB PTA) hearing loss. Our current indication for T-tube placement and potential mechanisms leading to the formation of tympanic membrane perforations following T-tube removal will be discussed. We attribute our lowered incidence of perforation to two factors which greatly reduced the trauma to the tympanic membrane following T-tube removal: first, we used a soft silastic tube with short flanges: second, prior to T-tube removal, we pre-treated the ear with a non-ototoxic antibiotic eyedrop for three days to soften the adhesive crust which forms between the tube and the tympanic membrane.

Tympanostomy tube placement is an effective surgical procedure for reducing the incidence of recurrent acute otitis media, and for reversing the hearing loss of otitis media with effusion. Several styles of tympanostomy tubes are available but they generally fall into one of two categories: 1) those which usually extrude spontaneously and 2) those which usually require removal following presumed maturation of the patient’s immune system and eustachian tube function. Soft silicone T-tubes (SSTT) fall in the latter category. They have the advantages of a relatively low spontaneous extrusion rate and removal that can be simply and safely performed in the office. The main disadvantage of these tubes is the previously reported high rate (12%) of residual tympanic membrane™ perforations following removal. This report instigated our own investigation.

Materials & Methods

Fifty-eight consecutive patients undergoing elective removal of SSTT’s between 6/1/89 and 8/31/89 were enrolled in the study. The overwhelming majority of these patients had undergone SSTT placement with short-flanged soft silicone Goode T-tubes (Medco Catalogue Number T5030) which were shortened to about 3 mm. intraoperatively prior SSTT tube insertion. Ears were pre-treated for three days immediately prior to SSTT removal with Sulfacetamidel prednisolone (Blephamide®) ophthalmic drops three times daily and just before entering the exam room. Patients were restrained as necessary and the SSTT’s were visualized with an operating microscope and removed with cup forceps. The integrity of the TM was checked one month following SSTT removal. Patients with intact TM’s had an audiogram at this time, if requested by the family. Patients with residual perforations were asked to continue water precautions and a follow-up examination was performed in another two months. The integrity of the TM was reassessed and audiograms were obtained. Patients were considered to have a residual perforation if the TM had not healed by the second follow-up visit, or if the TM had not healed at the first follow-up visit and they failed their  second appointment. Patients were excluded who failed all follow-up. In two instances, because of great traveling distances involved, follow-up was obtained by telephoning the patients’ private physicians. There were a few instances of spontaneous extrusion of the tube in the contralateral ear. The findings in these ears were also included in the study.

TABLE 1

Patients Entering Study:

N=58

Patients Completing Study:

N=52

Healed TM’s:

N=97 (93.30%)

Residual Perforations:

N=7 (6.7%)

Average PTA of Perforated TM’s:

15 dB

Average PTA of Contralateral, Healed TM’s:

14.5 dB

Average Intubation in Healed TM’s:

17.5 mos. (7-40 mos.)

Average Intubation in Perforated TM’s:

21.5 mos. (10-40 mos.)

Spontaneous Extrusions:

N=10 (9.60/0)

 

 

Results

Results are summarized in the table above (Table 1). A total of 58 patients with 115 ears were entered into the study. One hundred and four ears met our criteria for completing the study. There were no instances of significant trauma to the ear canal or TM from patient movement during removal. Ninety seven (93.3%) TM’s were intact at the completion of the study. There were seven ears (6.7%) with residual perforations. Of these, two failed their second follow-up visit. Only one ear with a residual perforation had a PTA of greater than 20 dB. This patient’s PTA was 22. The average PTA in ears with residual perforations was 15 dB, and the average PTA of the contralateral healed TM’s was 14.5 dB. In one patient, hearing in the healed ear was worse because of ongoing Eustachian tube dysfunction. Due to failed appointments, three ears with residual perforations were not tested audiometrically. The average age of the patient at the time of tube insertion in the patients with intact TM’s was 25.0 months and in patients with residual perforations was 24.5 months. The average length of time that the SSTT remained in TM’s which eventually healed was 17.5 months (range 7 months to 40 months) compared with 21.5 months (range 10 months to 40 months) in patients with residual perforations. There were 10 ears in which a spontaneous extrusion occurred. This represented an extrusion rate of 9.6%. None of these ears had residual perforations.

Discussion

As previously mentioned, SSTT’s have the distinction of being easily removable in an office setting with a low spontaneous extrusion rate. As Dr. Goode has pointed out, this is advantageous both when the anticipated need for adjuvant middle ear ventilation is on a short or long-term basis. This tube most closely approaches the ideal situation where intubation time is determined by the otologist rather than the vagaries of spontaneous extrusion.  For most indications, we find a tube with a 12% rate of residual perforation, as previously= reported, unacceptably high.

However, lower rates of residual perforation can be achieved. We attribute our lower rate of residual perforation to our efforts to reduce the tube trauma to the TM. This includes the use of soft silicone style ear tubes with shortened flanges and the care taken to soften the adhesive crust which forms between the ear tube and the tympanic membrane prior to removal of the tube.

Tube re-insertion rates should be markedly decreased with a longer-acting tube. In general, around 20% of patients will require multiple insertions when using spontaneously-extruding tympanostomy tubes. We believe this is in part because of the relatively short tube retention time of tubes such as the Shepard, Armstrong, or Donaldson variety. Over 40 % of the formern two tube types will be extruded in nine months. When SSTT’s are inserted in the young.ear patient for recurrent acute otitis media, one can generally count on the patient’s middle ears remaining ventilated through two consecutive otitis media (winter) seasons. This is not the case with the spontaneously extruding tubes. The overall incidence for re-operation (either repeat ear tube placement or closure of a residual perforation) is probably reduced in select populations when the longer acting SSTT’s are used.  The residual perforation left following removal of SSTT’s is generally not a severe  a few decibels of hearing loss. The perforation assures continued ventilation of the middle ear space, and in cases of unilateral residual perforation, the perforated ear may be more trouble-free than the opposite ear. Corrective myringoplasty generally requires only a fat patch technique and can occasionally be performed in the office. The main drawback to a residual perforation is the need for continued water precautions until the patient’s eustachian tube function enough to promote a high rate of successful myringoplasty.

The factors causing the higher incidence of tympanic membrane perforation with SSTT’s are unclear. Spontaneously-extruding tympanostomy tubes achieve extrusion and TM integrity simultaneously. With SSTT’s, these events are separate. Another factor is the length of the time that the ear is intubated. The longer intubation time obtained with SSTT’s may encourage maturation or stabilization of the mucocutaneous junction of the perforation preventing healing of the TM following SSTT removal. We now generally limit our intubation time to 18 months. Another cause of residual perforation may be the actual trauma of SSTT removal. There usually is an adherent crust connecting the TM to the SSTT. Before our practice of dissolving or at least softening this crust with eyedrops, large portions of the TM were frequently avulsed during tube removal. This rarely occurs following proper softening of the crust. A further source of trauma may be from the stiffer plastic and longer flanges used in other forms of T-tubes prompting our use of softer short-flanged tubes.

There is an unusual situation which uniformly results in a residual perforation. Following a bout of otitis media, the TM may fail to heal around the shaft of the SSTT and on exam the tympanostomy tube appears to be located within a larger perforation. The etiology is obscure, but may be related to partial necrosis of a vulnerable TM area during the infection.  Given our experience with a lower incidence of residual perforation and the prospect of reducing reintubation, we have the following indications for SSTT usage:

1.Patients with craniofacial abnormalities such as cleft palate in whom long-term middle ear ventilation requirements are anticipated;

2.Patients under one year of age with recurrent acute otitis media (we anticipate the need for adjuvant middle ear ventilation will be at least two winter seasons in these patients);

3.Patients who have a history of worsening of recurrent acute otitis media in the winter months yet require ear tube placement in the late winter, spring, or early summer thus increasing the likelihood the middle ear will remain ventilated through the following winter

4.Patients with attenuated or atelectatic TM’s in whom long-term middle ear ventilation is anticipated.

 

Surgery-Placing Ear Tubes
Indications for Surgery:
Management of Otitis Media for CMD
Long-term middle ear ventilation with T tubes: The perforation problem
Lowering the Incidence of Perforation Following Goode T-Tube Removal

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Myotonic Dystrophy Behavior and Learning Issues with Children

MYOTONIC  DYSTROPHY: BEHAVIOUR AND LEARNING DIFFICULTIES WITH CHILDREN

 

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).

GROUP
 TEST

NO.

 
 SEX
 SIBLINGS
 PRESENT

AGE
 AGE AT

ONSET
 AGE AT

DIAGNOSIS
 CTG

REPEAT

SIZE (kb)
 AFFECTED

PARENT
 CTG REPEAT

SIZE PARENT

(kb)
 
Congenital
 1
 male
   
 10
 0
 4
 3
 mother
 unknown
 
Myotonic
 2
 female
   
 16
 0
 3
 3.6
 mother
 1
 
Dystrophy
 3
 female
 1
 18
 0
 7
 3.5
 mother
 0.5
 
 
 4
 female
   
 7
 3
 7
 1.6
 mother
 unknown
 
Infantile
 5
 male
 2
 9
 1
 7
 2.2
 mother
 0.35
 
Myotonic
 6
 female
 2
 10
 2
 8
 2.1
 mother
 0.35
 
Dystrophy
 7
 male
   
 11
 1
 8
 1.2
 father
 0.7
 
 
 8
 female
   
 17
 1
 3
 1.5
 mother
 1.4
 
 
 9
 female
 3
 11
 6
 9
 2.6
 mother
 0.3
 
 
 10
 female
 4
 12
 6
 3
 1.9
 father
 2.4
 
Juvenile
 11
 male
   
 12
 7
 4
 1
 father
 0.5
 
Myotonic
 12
 female
 1
 14
 6
 4
 2
 mother
 0.5
 
Dystrophy
 13
 male
 3
 14
 7
 11
 1.5
 mother
 0.3
 
 
 14
 male
   
 16
 7
 15
 1.8
 mother
 0.4
 
 
 15
 male
 4
 16
 9
 12
 1.9
 father
 2.4
 

 

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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