Case Study Of Down Syndrome

DOWN'S SYNDROME - CHILD

Background History

Julie is 18 years old and has Down’s syndrome. She currently lives with her mother, father and younger sister and attends a special needs Sixth Form College.

Reason For Referral

Julie’s parents referred her for occupational therapy for support in increasing her self-care skills. Julie relied heavily on her mother and father for self-care tasks such as washing and dressing. Her parents wished for Julie to become more independent as these issues were beginning to prevent her going away on trips with friends. This would be a concern when Julie wanted to move out of the family home.

Occupational Therapy Assessment

The occupational therapist assessed Julie’s environment and her abilities within that environment. The assessment used a person centred approach, combining the use of formal and informal assessments. Formal assessments included the Assessment of Motor and Process Skills (AMPS) and the Model of Human Occupation Screening Tool. Informal interviews and observations of activities were also carried out.

The assessment identified that:-

  • Julie had particular problems with sequencing the actions and steps within her activities;
  • She was also easily distracted by people and objects within her surroundings;
  • Fine motor skills were an issue as Julie struggled to manipulate objects such as zips or co-ordinate two hands for activities such as doing up buttons.

Occupational Therapy Treatment Plan

Julie was offered an occupational therapy programme consisting of 12 weekly sessions which focused on:-

  • Working with Julie, her family and school staff to implement a program of fine motor tasks and co-ordination activities to improve her skills (she completed these at school and at home for a period of three weeks). The occupational therapist then worked with her to transfer the skills she had learnt into real life situations such as doing up zips, buttons, opening containers etc;
  • Adapting her home environment to remove visual distractions such as superfluous products and bottles;
  • Providing visual sequences in her bedroom and bathroom to prompt her into the order in which to complete tasks;
  • Being fun to ensure Julie was motivated and engaged fully with the therapist;
  • Activities carefully designed to challenge Julie whilst ensuring that she succeeded (this approach developed Julie’s self confidence and willingness to persevere with tasks that she found difficult).

Outcome

At the end of the programme:-

  • Julie was able to dress herself and clean her own teeth;
  • Julie was able to wash herself independently meaning she was able to have her first ever sleepover at a friends' house (she continued to need minimal support with showering as this was a complex task made more difficult by being unable to wear her glasses in the shower);
  • Julie was able to take her visual aids to her friend’s house and was able to carry out her selfcare activities unaided (she was delighted with this result as it was one of her life goals);
  • Julie was also able to go to the school swimming events and not require any support in dressing afterwards.

Julie’s family were able to see how her increased independence would enable her to leave home one day and lead a more independent life.

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.

 

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 performedScore
1Sitting unsupported4
2Change of position: sitting to standing3
3Change of position: standing to sitting3
4Transfers3
5Standing unsupported4
6Standing with eyes closed3
7Standing with feet together1
8Tandem standing1
9Standing on one leg0
10Turning torso (feet fixed)4
11Retrieving objects from floor4
12Turning 360 degrees4
13Stool stepping4
14Reaching forward while standing3

 

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.

 

CENTRUL KINETOBEBE, BUCURESTI – 24.03.2016

Sabin Chiriac, Physiotherapist , MS

Specialized in physiotherapy and special motricity . After over 6 years of working with adults and children, he has chosen to focus in paediatrics and integrate into the KinetoBebe Team.

 

 

 

Bianca Munteanu – Physiotherapist , MS in Nutrition and Body Remodelling

Started her professional career as a physiotherapist in 2009 in Denmark for 1 year in a school for children with special needs. Has also worked as a nurse, karate instructor and started at KinetoBebe Team to offer children real chances for rehabilitation and integration.

 

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