Research Article
The Croatian Experience in Multidisciplinary Treating of Children with Muscular Dystrophy
Matijević Valentina1,2*, Kraljević Marija1,2, Barbarić Bernarda1,2 and Matijević Petra3
1Clinical Department of Rheumatology, Physical Medicine and Rehabilitation, Sestre milosrdnice University
Hospital Centre in Zagreb, Croatia
2Josip Juraj Strossmayer University of Osijek – Faculty of Medicine in Osijek, Croatia
3University of Zagreb School of Dental Medicine
*Corresponding author: Matijević Valentina, Clinical Department of Rheumatology, Physical Medicine and Rehabilitation, Sestre Milosrdnice University Hospital Centre in Zagreb, Croatia
Published: 16 Dec, 2017
Cite this article as: Valentina M, Marija K, Bernarda B,
Petra M. The Croatian Experience in
Multidisciplinary Treating of Children
with Muscular Dystrophy. Ann Clin Case
Rep. 2017; 2: 1485.
Abstract
This review will briefly discuss the condition of muscular dystrophy in children and will explore the potential of multidisciplinary treating in managing the muscular dystrophy of children. Muscular dystrophy is the collective term used to represent genetic disorders characterized by progressive weakening of muscles and wasting of muscle tissue. Several forms of muscular dystrophy exist, that differ on the basis of clinical symptoms, disease severity and the way in which the disease is transmitted form one generation to the other. There are not many specialists and researchers in Croatia which are working in a multidisciplinary team with children who are suffering from muscular dystrophy. Life quality of people suffering from muscular dystrophy can be significantly improved by involving and supporting children and their parents in early intervention where they are supervised by the multidisciplinary team. Since that the aim of this research was not detecting the causes of muscular dystrophy and difference types of muscular dystrophy with their characteristics, in this report we have decided to write about the importance of multidisciplinary treatment children with muscular dystrophy and importance of early intervention. The multidisciplinary team presented in this report is considered by doctor specialist in physical medicine and rehabilitation, physiotherapist, speech therapist and psychologist. The lack of multidisciplinary treating probably happens due to poor understanding which early intervention can relate to the quality of children life in muscle disease. Therefore, the researchers have limited knowledge on which kind of multidisciplinary they should target the treatment muscle dystrophy.
Keywords: Muscular dystrophy; Therapeutic approach; Multidisciplinary team
Introduction
Muscular dystrophy is one group of genetic diseases in which various genes controlling muscle
function are defective [1]. It’s an autosomal recessively inherited disease which occurs at birth
or within the first six months of life, with hypotonia, muscle weakness, contractures, and motor
developmental delay. It has long been known that the clinical phenotype in this disease can vary
substantially and until recently there was no explanation for this finding [2].
More than one form of muscular dystrophy existed and that these diseases affected people of
either gender and of all ages [3]. The distribution of muscle weakness is different in various types of dystrophy.
With the development of diagnostics, it has become evident that muscular dystrophy is a
heterogeneous entity composed of a large variety of neuromuscular disorders [4]. There are
currently over 30 different types of muscular dystrophy have been recognized but generally,
there are eight main types of muscular dystrophy called Duchenne muscular dystrophy, Becker
muscular dystrophy, Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy,
facioscapulohumeral muscular dystrophy, distal muscular dystrophy, oculopharyngeal muscular
dystrophy and congenital muscular dystrophy. The different muscular dystrophies are varied in who
they affect and the symptoms of the specific type of muscular dystrophy [5]. In addition, because it is a hereditary disorder, it may recur again in some families.
The usual symptoms of muscular dystrophy besides the muscles weakness are a decrease in
dexterity (quickness, readiness and grace in physical activities), increase in clumsiness, the stiffness
of grip, cardiac complications and others difficulties. The cardinal symptoms are weak muscles but weakness also occurs in the face, neck, hand and feet. New born
infants with the muscular dystrophy generally have difficulties with
sucking and breathing because of neonatal hypotonia, later orofacial
weakness causes problems with indistinct articulation and speech [6].
Children who have speech difficulties (phonological, articulation
and language) may be struggling in various aspects of everyday life
such as social interaction in school and family life. This child may
become isolated and withdrawn over time if these difficulties are
ignored and would benefit greatly from the speech and language
therapist in a multidisciplinary team. The larger number of speech
and language pathologists should be available to work in the
rehabilitation of these children from an early age [7].
Also, in the early stages child and their family can fall into
depression and this depression can keep recurring throughout their
lives due to the difficulty in coping with the disease [8]. Due to many
limitations faced by muscular dystrophy patients, this disease can
cause medical and social problems among the patients [8].
Even among the limited available researchers of muscular
dystrophy disorder most of the researchers are focusing on the
medical aspect of the disease [9]. The psychological and emotional
effects of muscular dystrophy on the patients and their families are
often ignored.
Many patients and their immediate families feel shocked and
angry upon hearing the diagnosis so, therefore, such patients should
be followed by a psychologist [10].
Professionally led early and multimodal stimulating treatment
minimizes the short-term and long-term consequences of the child's
neurophysiological development, and has multiple positive effects on
their family and the environment, and thus allows the child to have
equal or which participates more equally in society [11].
The goals of multimodal (re) habilitation of the child with
muscular dystrophy are the most encouragement of all ability in
accordance with psychophysical characteristics and life expectancy.
Enable intellectual, physical, emotional and social development
and ensure the conditions for successful integration into everyday
life with the greatest possible potential degree of independence and
successful socialization [11].
Materials and Methods
Every rehabilitation, including child habilitation, starts with
the examination at the doctor's Office, then paediatrician, doctor
specialist in physical medicine and rehabilitation and if necessarily
neuropediatrician. The quality and positive results of therapy children
with muscular dystrophy depends on mutual communication,
continuity and regular therapy, early intervention, the motivation of
child and parents and also teamwork from the primary paediatrician,
child’s doctor specialist in physical medicine and rehabilitation,
physiotherapist, speech therapist and psychologist [12].
Methods for treatment of muscular dystrophy normally includes
surgery, an orthopaedic device, physical therapy, speech and
psychological therapy.
The child’s doctor specialist in physical medicine and
rehabilitation evaluates the spontaneous motors, active motions,
qualitative analysis of general movement, the strength of the muscles,
palpation and passive motility testing, reflexes testing by the Vojta
principle. Doctor specialist in physical medicine and rehabilitation
should have work experience in this area for at least five years or
certification of completing the course of Bobath concept or Vojta
principles [12].
The physiotherapist encourages the proper pattern about the
movement of the child, but at the same time raises the child's
neurophysiological development which is needed for the child to carry
out the wanted or desired movement. The child physiotherapist used
the Bobath concept which inhibits/controls the abnormal postural
and locomotion pattern and simultaneous facilitation/activation of
automatic postural reactions (equilibrium reactions and righting
reaction). It all has an effect as there is an achievement with normal
tonus and motorial functions which enables the child’s variety of
sensory experience in functional and purpose-directed activities [13].
Inactivation for the ontogenetic mechanisms of movement
patterns Vojta therapy is applied. Vojta therapy is based on reflexive
locomotion (rotation, crawling). In certain positions (supine,
pertinent position and position on the hip), with the pressure from
the therapeutic on specific parts (stimulating zones) cause muscle
activation throughout the body. The musculature is always facilitated
by the same recurring sequence, in the way it is used in an ideal
motorcycle form [14].
Physical gymnastics with older children is divided according
to the movement which is performed: active movement exercises,
assistive active and passive exercises [11]. Electrotherapy is
performed in various forms for those children where there is
indicated (transcutaneous nerve stimulation, interferential current,
magneto therapy, electro muscular stimulation, muscle training,
muscular electrostimulation, functional electrostimulation), and
thermotherapy surface modalities (paraffin, solux lamp, warm and
cold compression, surface cooling ice). Because of relief, easiness or
directional movement, in therapy, it is often to use orthoses, wrists,
orthopedic shoes and dentures to replace the lost or entire extremities
[15].
Speech and language therapist estimates the speech-language
and communication development of the child as also improving
communication skills of the children, which is mainly important
for children with neuromotor disabilities, as they more often have a
delay in their speech-language development. Based on standardized
tests, the speech and language therapist evaluates understanding and
speech in children with motor distortions. The most commonly used
tests are the ones who investigate language comprehension, receptive
vocabulary, language production and articulation. There are tests that
examine the orofacial muscle weakness in children with difficulties
with sucking, swallowing and chewing, as it is the case for children
with muscular dystrophy. As a result of orofacial weakness, there are
also difficulties in articulation and fluency in speech.
The psychologist evaluates the child’s development of psycho
motoric skills. According to the development gives advises to the
parents on educational procedures and behaviour about the child's
deviations in motor and neurophysiological development [11]. In
addition, psychologist uses various types of tests to measure general
intelligence and readiness for school.
Examination of physical medicine and rehabilitation specialist is
45 minutes long. Frequencies of control examination from age 0 to 16
months is every 6 (8) to 10 (12) weeks depending on functional status
of the locomotion apparatus; from 16 months to 3 years every 3 to 4
months depending on functional status of the locomotion apparatus; from age 3 to 6 every 4 to 6 months depending on the functional status
locomotor device; after 6 years of age every 6 to 12 months depending
on the functional status locomotor device. Paramedical examinations
from the others in the multidisciplinary team: Speech and language
therapist will examine every 3 to 6 months for 45 minutes, while
the psychologist retests every 6 to 12 months for duration about 60
minutes [11].
Results and Discussion
In Croatia, the child’s doctor specialist in physical medicine and
rehabilitation is the leader of the multidisciplinary team as he/she is
the first person in the chain to meet the family and the child. The
doctor specialist in physical medicine and rehabilitation creates the
appropriate spectrum of therapeutic interventions. It is important
to recognize deviations in the motor and neurophysiological
development of the child. The doctor specialist in physical medicine
and rehabilitation will indicate by which kinesiotherapy stimulation
procedure the child will be processed during treatment; also brings
the decision of implementing the treatment in the ambulance
and stationary and includes the speech and language therapists,
psychologists and other specialists in the team [11].
Every rehabilitation of a child begins with the education of a
parent or guardian. For continuous stimulation of neuromotor
development, it is necessary to maintain and continue at home for
at least two hours a day, although there is no consensus regarding it,
through the motor and sensory activities appropriate to the age of the
child [11,16].
After all, it cannot neglect that comprehensive non-motor
stimulation is carried out throughout the course of feeding, carrying
out hygiene, taking care of the child during the day, wearing, dressing
and playing with the aim that the child learns the experience of a
proper movement of each action which is stated above.
The goals of multimodal rehabilitation for the child is
to maximally encourage of its abilities in accordance with
psychophysical characteristics and life expectancy. It is necessary to
enable intellectual, physical, emotional and social development as also
providing conditions for successful integration into a lifetime with
the highest degree of independence during it. Using the behavioural
techniques as work to adopt those forms of behaviour which enables
successful socialization [11].
Physiotherapist
Due to the wasting of muscle children with muscular dystrophies
will struggle with many everyday activities. Physiotherapists can
help with the management of the presenting neuromusculoskeletal
problems. They can help slow the degression of a range of motion,
muscle strength, daily function, work to improve gait pattern and
posture [17].
Physiotherapy is a therapeutic science that makes use of manual
skills to correct the deviations from normal health process. Muscular
dystrophy is a life-disabling condition which makes children
dependent upon a wheelchair in later stages of the disease, demands
practice of the bodily functions and reconditioning of affected tissues.
This can be primarily brought about by physiotherapy which has no
side effects. An early referral from the hospital for physiotherapy is
imperative to prevent unnecessary degradation of child’s functioning.
This disorder is disabling but consistent efforts from a team of a child
and his/her physiotherapist, which is generally ignored, can help
make this world a better place to live for the children having muscular
dystrophy [18].
It is indispensable for the therapy to have children play in the
hospital. Child's play is not only conditioned by an external stimulus
but comes from a child's inner motivation. The game helps in
coordination and develops proper muscle development, and in
further helps children prepare for the future by playing those activities
they have not equal to [19].
In a hospital environment in Croatian, children's play is often
used as a form of psychotherapy. Thus, fears and anxieties can be
more easily identified and hospital staff can alleviate them when it is
necessary. Enabling parents to visit their children, implementing and
introducing different activities with the help of professionals from
different profiles facilitates a child's stay in the hospital during the
therapy which at the end reduces the psychological consequences and
positively influences on the mental and physical development of the
child [20].
Speech therapist
Children with muscular dystrophy show orofacial muscle
weakness. Preliminary evidence emerges suggests that speech, but
not necessarily intelligibility is likely to be impaired when lingual
weakness is severe [21].
Orofacial motor exercises are non-voice activities which involve
sensory stimulation or initiation of the facial muscles, lips, jaw,
tongue, soft palate, larynx and respiratory muscles which at the
end affects the physiological of the oropharyngeal base in which
their function is improving. Considering that people with muscular
dystrophy have general muscle weakness, that weakness also affects
the facial muscles responsible for chewing, swallowing and speech,
so, therefore, the orofacial exercises are necessary for rehabilitation of
people with muscular dystrophy [22].
The speech and language therapist is providing above mentioned
exercises with children and advises parents what kind of exercises to
do at home.23 In a case study in one Clinic in Croatia, two girls with
muscular dystrophy have shown great improvement after six months
of intensive orofacial exercise. Progress in eliminating and reducing
muscle weakness of orofacial area and significant improvement of
orofacial muscle tone [23].
Feeding and swallowing problems are not uncommon in
muscular dystrophies, which can lead to dehydration, malnutrition
or aspiration pneumonia. In patients with chronic muscle disease, a
prevalence of 35% of feeding problems and dysphagia was reported
[2]. Facial muscle weakness can lead to craniofacial and dental
malocclusion which aggravates problems with chewing [24]. Since
that children with muscular dystrophy may have difficulties with
chewing, if necessary, the speech therapist advises an expert of Dental
Medicine who provides more information on oral practice to parents.
Proper pronunciation of letters in most cases is conditioned with the
developed oral practice. It is a prerequisite for proper articulation
(pronunciation) of voice and represents the ability to voluntarily
initiate the parts of the speech device (lips, cheeks, jaws, tongue,
soft and hard palate). In this way, the speech organs are placed in
the proper position which is necessary for correct pronunciation
of voices. The maturation of oral praxis follows the physiological
development of the child.
To improve their quality of life and nutritional state patients with muscular dystrophy and also swallowing difficulties benefit from dietetic and swallowing recommendations by speech and
language therapist, about safe swallowing techniques or advice about
postural management and feeding aids. More liquid food is advised or
alternating thick with thin consistencies, careful chewing and bolus
preparation to a liquid consistency, effortful swallowing and double
swallows, water after mealtime. The positioning of the head in sitting
position can also be important to prevent residue [25].
Psychologist
Medical care incomplete without support for psychosocial wellbeing.
During the medical care, it is welcomed to process counselling
or other psychological help since it is not usually part of a normal
medical procedure during treatment.
As the disease is acknowledged at the early stage, it is an often case
and unpleasant situation where the patients hardly accept the reality
that they are having an incurable illness at that moment. Patients
can fall into a depression where it can develop signs of an aggressive
behaviour. Problems with sleeping are in common and not foreign for
patients with muscular dystrophy as psychological stress is building
up [9].
Though, psychologist opinion and role is usually left unnoticed
since that most of the pupil are not referred or advised to see the
experts which are a specialist in the field of psychology and counselling
patients during working with them.
Muscular dystrophy at the end is a rare and unique disorder for
a person. Parents of children with muscular dystrophy sometimes are
left feeling lonely and scared in facing all the upcoming challenges
which are related and comes with the disease. Most of the time, they
will centre their life to their children and by that are having rare
opportunities for breaks for themselves. In some cases and some
severe muscular dystrophy cases, parents face the deal with the loss
of their child and have to cope with grief and anger. It is not rare that
the parents deal with various feelings like guilt, shame and blame.
Psychological assistance and intervention are also desired to help the
parents as it’s also important to the child.
Several psychotherapy techniques can help in various areas.
One of them is parental respective management training which is
recommended for externalising behaviours and the other technique is
the individual therapy, recommended for patients with internalising
behaviours. The psychological intervention also includes proactive
approach in increasing the awareness of muscular dystrophy and the
knowledge among school personnel, peer education about muscular
dystrophy and promoting patient’s independence and self-advocacy
[26]. Education intervention is necessary to promote children
independence and involvement in making decisions before entering
school education. After that, it can be followed by the individualised
educational programme. In addition, it is important to take measures
to address deficits when they are identified [26].
Conclusion
There are some encouraging results in improving the quality of
life patients with muscular dystrophy with early intervention and
supported by the multidisciplinary team [27]. Early intervention in
childhood consists multidisciplinary services which are provided
to children with developmental risk factors in order to improve the
health of the child, strengthen the development of ability, reduce the
impact of difficulties and development lag, prevented the functional
deterioration as much it is possible, improve adaptable parenting and overall family action [28].
This leads to a new set of challenges, including social and
psychological impacts of longer-term survival which need to be
addressed in parallel with the continued improvement in care and
treatment. It also provides a learning experience for the development
of new therapeutic approaches in other rare diseases.
Due to the lack of a comprehensive multidisciplinary treating
program and module for the muscular dystrophy patients, there is a
potential for research in finding proper approaches in managing the
muscular dystrophy patients.
Given that the challenge of providing services in early intervention
from specialists in various fields, this study shows the collabration
of several experts involved in an indirect and immediate work with
children with muscular dystrophy and their families. The desire is
to find a common solution and to work on linking services in early
intervention of children with developmental disadvantages.
Acknowledgments
The author thanked the speech therapist and psychologist for helping with the development of this work as well as support for everyday work with children.
References
- Oxford University Press. Muscular Dystrophy (The Facts). New York; 2008.
- Elsevier. Health Sciences Division. Muscle disorders in childhood. Philadelphia; 1995.
- Amato AA, Griggs RC. Handbook of clinical neurology. In: Elsevier BV, editor. 3rd ed. Amsterdam, the Netherlands. 2011. 101: p. 1-9.
- Boström K, Ahlström G. Living with a hereditary disease: person with muscular dystrophy and their next of kin. Am J Med Genet A. 2005;136:17-24.
- Muscular dystrophy (perspectives on disease & disorders). In: Clay Farris Naff, editor. USA: Greenhaven Press; 2011.
- Sjogreen L, Engvall M, Ekstrom AB, Lohmander A, Kiliaridis S, Tulinius M. Orofacial dysfunction in children and adolescence with myotonic dystrophy. Dev Med Child Neurol. 2007;49:18-22.
- Blaži A, Kolarić B. Experiences and satisfaction of parents of children born with orofacial clefts with the support provided in Croatian systems of health and social care. Logopedija. 2015;5:18-24.
- Che Ismail EH, Othman N. From Diagnosis to Treatment of Muscular Dystrophy: Psychology Meets Medicine. Int J Psychol Stu. 2016;8:85-91.
- Michie S, Marteau TM. Predictive genetic testing in children: The need for psychological research. Br J Health Psychol. 1996;1:3-14.
- Peay HL, Meiser B, Kinnett K, Tibben A. Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy. J Genet Couns. 2017.
- Matijević V, Marunica Karšaj J. (Re)habilitation guidelines for children with neuro developmental disorders. Physical and Rehabilitation Medicine. 2016;27:302-329.
- Mikelić V, Košiček T, Crnković M, Radanović B. The participation of children with neurodevelopmental risk factors in the early rehabilitation program in relation to the level of parental education. Acta Clin Croat. 2011;50:457-461.
- Vaughan-Graham J, Cott C. Defining a Bobath clinical framework - A modified e-Delphi study. Physiother Theory Pract. 2016;32:612-627.
- Jung MW, Landenberger M, Jung T, Lindenthal T, Philippi H. Vojta therapy and neurodevelopmental treatment in children with infantile postural asymmetry: a randomised controlled trial. J Phys Ther Sci. 2017; 29:301-306.
- De Groot IJM, Voet NBM, Van den Engel-Hoek MJL. Rehabilitation in Muscular Dystrophies: Changing Approach. In: InTechOpen, editor. The Netherlands: Radboud University Nijmegen Medical Centre; 2012. 12:235-246.
- Matijaš T, Matijević V, Crnković M, Trifunović-Maček Z, Grazio S. Impulsivity and attention in children with mild motor disabilities. Paediat Croatica. 2011;55:239-242.
- Tay SK, Lin JB. Current strategies in management of Duchenne Muscular Dystrophy: Allowing patients to live with hope. Ann Acad Med Singapore. 2012;41:44-46.
- Gianola S, Pecoraro V, Lambiase S, Gatti R, Banfi G, Moja L. Efficacy of Muscle Exercise in Patients with Muscular Dystrophy: A Systematic Review Showing a Missed Opportunity to Improve Outcomes. PLoS One Online Journal.
- Kolak Ž, Sečić A, Matijević V. Children's play in the humanization of children's stay in the hospital. Physical and Rehabilitation Medicine. 2013;25:42-49.
- Divljaković K, Lang Morović M, Kraljević M, Matijević V, Maček Trifunović Z. Music therapy and rhythmic auditory stimulation with hospitalized children. Physical and Rehabilitation Medicine. 2014;26:1-11.
- Van Ruiten H, Bushby K, Guglieri M. State-of-the-art advances in Duchenne muscular dystrophy. EMJ. 2017;2:90-99.
- Arvedson J, Clark H, Lazarus C, Schooling T, Frymark T. The effectiveness of oral-motor exercises: An evidence-based systematic review. Dev Med Child Neurol. 2010;52:1000-1013.
- Matijević V, Kraljević M. Therapeutic approach: orofacial-motor exercises in the rehabilitation of muscular dystrophy. In: Filodiritto, editor. 1st ed. Italy: Bologna; 2017. p. 17-22.
- Kumin L. Intelligibility of speech in children with Down syndrome in natural settings: parents’ perspective. Percept Mot Skills. 1994;78:307-313.
- de Swart BJ, Padberg GW, van Engelen BG. Less is more: treatment of aggravating behaviour in myasthenia gravis patients with dysphagia. Eur J Neurol. 2012;9:688-689.
- Bushby K, Finkel R, Birnkrant D J, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy part 1: Diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77-93.
- Karjalainen K, Malmivaara A, Van Tulder M, Jauhiainen M, Hurri H, Koes B. Multidisciplinary rehabilitation for fibromyalgia and musculoskeletal pain in working age adults. Cochrane Database Syst Rev. 2000;CD001984.
- Matijević V, Šečić A, Šafran I. Estimation of the difference in the effectiveness of neurodevelopmental stimulation programs in stationary and ambulatory conditions. Fiz Rehabil Med. 2016; 28:181-192.