Case study of a 15 year old with Down
syndrome
Down syndrome, also known as trisomy 21, is a genetic condition (abnormality in
the human genome) present from conception, caused by the presence of an extra 21
chromosome¹, resulting in a total of 47 chromosomes instead of 46. In the world, 1
in 800 children are born with this syndrome. The total number of people affected
globally is estimated at around 40-50 million2.
A child with Down syndrome suffers from hypotonia, excessive joint flexibility, an
increased risk for obesity, short limbs, and neurological and language development
delays. Approximately 40-50% of children with Down syndrome present congenital
heart defects. Individually tailored physiotherapy and psychotherapy is needed to
address the problems faced by children with Down syndrome.
In order to support an appropriate neurological development, physical therapy plays
an important role from the first months of life. Starting physiotherapy as early as
possible will determine a larger degree of independence in the future. Besides
acquiring a degree of independence in children with Down syndrome, kinetic
physiotherapy also aims to prevent and correct the associated disabilities.
Our case study patient which we will refer to as “M”, aged 15, is dynamic and
perseverant. Diagnosed with Down syndrome, M has been doing physical exercises
as part of her daily routine. Thus, over time, she has benefited from physiotherapy
and has also practiced multiple physical activities (swimming, ballet, dance, judo). In
2012, when she began a physical therapy program in the KinetoBebe Centre
(Bucharest, Romania), she was overweight, had low muscle tone, and difficulty in
communication. Since then she has improved on all these areas. Due to low muscle
tone, especially in the torso muscles, she has developed an asymmetry of the
spine. During physiotherapy sessions, this muscular weakness has been the current
area of focus.
Child and Physiotherapist using the MIRA Rehab system at the KinetoBebe Clinic in
Bucharest, Romania
Evaluation
After the physiotherapists from the centre evaluated the posture, muscle tone,
balance and coordination, they noted that M did not present the pathologies
typically associated with Down syndrome. She presented with good muscle tone
(even though it is not yet associated with good coordination and unipedal balance),
in standing upright she maintains a broad base of support, and has joint mobility
within normal limits. She still has an abnormal curvature of the spine and an
attention deficit specific to Down syndrome.
In order to assess M’s balance, Berg Balance Scale was used at the beginning of
using MIRA. Her scores were as follows:
Action performed
Score
1
Sitting unsupported
4
2
Change of position: sitting to standing
3
3
Change of position: standing to sitting
3
4
Transfers
3
5
Standing unsupported
4
6
Standing with eyes closed
3
7
Standing with feet together
1
8
Tandem standing
1
9
Standing on one leg
0
10
Turning torso (feet fixed)
4
11
Retrieving objects from floor
4
12
Turning 360 degrees
4
13
Stool stepping
4
14
Reaching forward while standing
3
Therapy
At the moment, M attends 2 physical therapy sessions per week with the objective
of toning and maintaining adequate muscle tone, correcting spine asymmetry, and
improving balance and coordination. At the end of each physiotherapy session she
also performs 10 minutes of exergames with MIRA under the supervision of her
physiotherapist. This is important because it serves to correct the starting position
as well as the execution form of the movement. M’s regular physiotherapy
treatment was supplemented with rehabilitation with MIRA exergames in order to
improve her attention deficit and her coordination and balance. Her willingness and
excitement towards using MIRA at the end of her regular physiotherapy sessions
determines an improvement in results. Nevertheless, children have to be supervised
when performing the exercises in order to ensure proper working position, the fact
they are engaging the relevant body part, as well as the proper execution of
movements (compensatory movements of the limbs are highlighted in the
platform). Balance is improved during sessions with MIRA through the “left / right
balance” exercises, through the change of the center of gravity from one leg to the
other, by mobilizing the torso (flexion, extension, lateral inclination), by bending the
torso, etc. These can mostly be noticed by a change in attitude of the child towards
exercising, becoming much more open and self-confident, accepting to perform
balance exercises that M was afraid to perform before (such as using the balance
board, walking on balance beam or unipodal support).
M likes working with MIRA because she finds the games attractive and funny,
treating it as a video game, while having her concentration and attention stimulated
over a longer period of time. Due to the novel aspect of the platform, she added
that she would like to “play non-stop” because it is very animated and the
background music gives her a good feeling. After about 2 months of using the MIRA
rehabilitation platform as a complement to physical therapy, a slight improvement
during the meetings in attention and concentration was observed. This
improvement in enhanced attention was best observed when she had to collect
various objects and place them on the shelves (Grab game), as well as with Izzy the
Bee and the fighter pilot (Airplane).
Conclusions
1. M’s desire to use the program at the end of physiotherapy sessions enhances her
motivation during the entire meeting
2. After an initial period of accommodation with the MIRA system, the parameters
evaluated by the system have improved
3. M considers the session as a game
4. MIRA is a valuable complement to a physiotherapy session as the child should be
supervised by a therapist during MIRA sessions to ensure optimal posture and
positioning in both static and dynamic movements.
5. M’s concentration and attention is improved when using MIRA
6. Balance exercises can be incorporated in the MIRA sessions, the child using both
upper limbs while performing torso movements (flexion, rotation, inclinations,);
transfer from one lower limb to the other, swinging from left to right
7. Movements done slightly incorrectly may still generate points
**Note: Due to the technical parameters of the MIRA system, the games have been
designed to allow for a small degree of error in performing the movements as it
continues to incentives the user to interact with the system. Setting too stringent
of restrictions to ensure perfect movement may discourage the use of the game as
achieving a perfect movement is extremely challenging even for a physically healthy
individual.
8.While exercising with MIRA, because M focuses on the characters from the games,
compensatory movements of the limbs might appear, sometimes making the
movement slightly less correct
References
1. Retrieved from https://en.wikipedia.org/wiki/Down_syndrome, Accessed on
20.04.2016.
2. Rahi JS, Williams C, Bedford H, Elliman D. (2001). Screening and surveillance
for ophthalmic disorders and visual deficits in children in the United Kingdom.
British Journal of Ophthalmology, 85, 257-259.