Rehabilitation in Down Syndrome Patient with Malnutrition, Sensory
Processing Disorder, Obstructive Sleep Apnea: A Case Report
Melda Lamtiur
1
, Luh Karunia Wahyuni
2
1
Resident of Physical Medicine and Rehabilitation, Faculty of Medicine, Universitas Indonesia,
Cipto Mangunkusumo National General Hospital
2
Staff at Department of Medical Rehabilitation, Faculty of Medicine, Universitas Indonesia,
Cipto Mangunkusumo National General Hospital
Keywords: Down Syndrome, Sensory Processing Disorder, Malnutrition, Obstructive Sleep Apnea
Abstract: Down syndrome children will experience delays in development. However, will achieve same milestones as
other children on their own timetable, has same motor development sequence but it takes two times
compared to healthy children. Management for comorbidities accompanied Down syndrome child is needed.
Case: A 4 year 1 month girl with chief complaint could not walk. Patient was diagnosed with Down
syndrome, malnutrition, sensory processing disorder, obstructive sleep apnea. She got neurodevelopmental
therapy, lower extremities strengthening exercise, sensory integration therapy, consulted to nutritionist and
ENT department. She was suggested to use NGT and had an adenoidectomy but the mother refused. After 3
months, she could stand without support but still could not walk. Discussion: Down syndrome causes delay
in development, comorbidities make it worst. Patient had delays compared to Down syndrome
developmental graphic. There were improvement in gross motor but malnutrition, adenoid hypertrophy,
obstructive sleep apnea interfere the management. Conclusion: Down syndrome usually has comorbidities.
Down syndrome causes delay in development and comorbidities make it worst. It is important to identify
the comorbidities and make holistic approaches.
1 INTRODUCTION
Down syndrome was first described by an English
physician John Langdon Down in 1866, but its
association with chromosome 21 was established
almost 100 years later by Dr. Jerome Lejeune in
Paris.
It is the presence of all or part of the third copy
of chromosome 21. It is coupled with mental
retardation, congenital heart defects, gastrointestinal
anomalies, weak neuromuscular tone, dysmorphic
features of the head, neck and airways,
audiovestibular and visual impairment, characteristic
facial and physical features, hematopoietic disorders
and a higher incidence of other medical disorders
(Kazemi, Salehi and Kheirollahi, 2016).
The Centre for Disease Control and Prevention
(CDC) estimates that each year about 6000 babies
are born with Down syndrome (an average of 1 in
691 infants born in the United States), without any
predilection of race or socioeconomic class (CDC,
2011). In Indonesia, according to Riskesdas, the
2013 prevalence of Down syndrome in children 24-
59 months old is 0.13%, and on 2018 is increasing to
0.21% (Wardah, 2019).
The likelihood for having a baby with Down
syndrome increases with advanced maternal age and
the highest odd is when the mother reaches 40 years
old (Ivan and Cromwell, 2014).
Some of the traits common to babies with Down
syndrome include low muscle tone, a flat facial
profile, short neck, bulging tongue, a small nose, an
upward slant to the eyes, a single deep crease across
the centre of the palm, an excessive ability to extend
the joints, small skin folds on the inner corner of the
eyes, excessive space between large and second toe.
But the features associated with Down syndrome can
be found in babies without Down syndrome, it is
needed to order a test called a chromosomal
karyotype to confirm diagnosis. Using a sample of
blood, this test analyses the child's chromosomes. If
Lamtiur, M. and Wahyuni, L.
Rehabilitation in Down Syndrome Patient with Malnutrition, Sensory Processing Disorder, Obstructive Sleep Apnea: A Case Report.
DOI: 10.5220/0009066101390143
In Proceedings of the 11th National Congress and the 18th Annual Scientific Meeting of Indonesian Physical Medicine and Rehabilitation Association (KONAS XI and PIT XVIII PERDOSRI
2019), pages 139-143
ISBN: 978-989-758-409-1
Copyright
c
 2020 by SCITEPRESS – Science and Technology Publications, Lda. All rights reserved
139

there's an extra chromosome 21 in all or some cells,
the diagnosis is Down syndrome.
Short stature is a cardinal feature of Down
syndrome. The growth retardation of children with
Down syndrome commences prenatal. After birth
growth velocity is most reduced between 6 months
and 3 years of age (Myrelid et al., 2002). Statural
growth is a well-known indicator of health during
childhood. As growth and final height differ
markedly between children with Down syndrome
and healthy children, standard growth charts should
not be used for children with Down syndrome.
Concomitant diseases, such as laryngopharyngeal
reflux, dysphagia, and sensory processing disorder
may influence growth in this patient.
Development is a continuous process that begins
at conception and proceeds stage by stage in an
orderly sequence. There are specific milestones in
each of the four areas of development (gross and
fine motor abilities, language skills, social
development and self-help skills) that serve as
prerequisites for the stages that follow. Most
children are expected to achieve each milestone at a
designated time, which can be calculated in terms of
weeks, months or years.
Figure 1: Milestones of Down syndrome and normal
children.
Because of specific challenges associated with
Down syndrome, children will likely experience
delays in certain areas of development. However,
they will achieve all of the same milestones as other
children, just on their own timetable. See Figure 1.
Children with Down syndrome followed the same
motor development sequence and generally took the
twice the time for reaching gross motor
developmental milestones compared to healthy
equals (Kim et al., 2017). In monitoring the
development of a child with Down syndrome, it is
more useful to look at the sequence of milestones
achieved, rather than the age at which the milestone
is reached.
Children with Down syndrome have a different
growth pattern to that of the general population, their
average height is shorter, their head circumference is
smaller and their growth rate is slower between ages
of 3 – 36 months.
It is essential that growth in children with Down
syndrome is carefully monitored. Height and weight
should be plotted using the growth charts
specifically designed for children with Down
syndrome from birth to 18 years.
Infants and children with Down syndrome can
have feeding and drinking difficulties. A smaller
oral cavity and low muscle tone in the facial muscles
can be contributing factors. In addition, the tongue
may appear larger due to a high arched palate, a
smaller oral cavity and reduced muscle tone in the
tongue. Teeth tend to appear at a later stage. Many
children are mouth breathers due to smaller nasal
passages, and may have difficulties coordinating
sucking, swallowing and breathing whilst feeding.
All of these factors can impact on how a child
develops efficient oral and feeding skills.
Feeding problems in early childhood are shown
to have a negative impact on development and can
be a source of caregiver stress. Although these kinds
of problems occur frequently across the population,
their incidence is much higher in children with
developmental disabilities than it is in typically
developing children. It is estimated that 57 percent
of infants with Down syndrome have feeding
difficulties during the neonatal period (van Dijk and
Lipke-Steenbeek, 2018).
Children with Down syndrome often have
anatomical and physiological anomalies, such as a
smaller mouth cavity, a smaller upper jaw, dental
anomalies, weaker lip tension, and stronger tongue
tension. This leads to oral motor problems in
roughly four out of five children with Down
syndrome. It has also been shown that children with
Down syndrome chew less effectively and that
tongue protrusion is frequent, which can lead to food
being expelled from the mouth and evoke a
pharyngeal reflex. Spoon-feeding is also more
difficult, as the sucking response remains present for
longer in children with Down syndrome, making it
hard for them to take an active bite. There is a delay
in the development of oral motor skills needed to eat
solid food.
In addition, it has been shown that 45% of
children with Down syndrome show selectivity by
texture and less self-feeding. In addition, children
with Down syndrome display behavioral problems
during feeding more often than typically developing
children.
KONAS XI and PIT XVIII PERDOSRI 2019 - The 11th National Congress and The 18th Annual Scientific Meeting of Indonesian Physical
Medicine and Rehabilitation Association
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Children who have increased oral sensitivity
often have difficulty accepting new tastes and
textures. Some children with Down syndrome may
require support for feeding difficulties, poor weight
gain, and oral sensitivity.
2 METHODS
A 4-year-1-month-old girl diagnosed at neonatal
period with Down syndrome (47,XX,+21), with no
other relevant personal or family history, was
brought to the physical medicine and rehabilitation
department with chief complaint unable to walk.
The child was unable to walk but able to sit
without support. For the fine motor, she was able to
hold toys but was not able to reach. She still could
not talk, only babbling. She could understand simple
instruction, such as to shake hand or to do high five.
The instruction must be given in loud voice because
she had hearing problem diagnosed as otitis media
with bilateral effusion. Right now the otitis media is
already on therapy. She was able to smile to her
mother.
The mother also reported that the child had
feeding difficulty, refusing to eat textured food. She
still ate porridge. The mother said that patient could
only eat a little amount of food. For the habit of
feeding, she was given food by her mother 3 times
per day and always in upright position. She could
only ate 3 spoons of porridge and 3 x 120 ml of
formula milk but sometimes she did not drink all the
milk. The mother said that if the food given was too
much the patient would vomit.
When she was sleeping, sometimes she suddenly
awakened and gasped then continue to sleep. The
oxygen saturation measurement for 4 days during
night sleep sometimes reach 90%. She slept for
around 10 hours a night but disturbed by the waking
up episodes 3-4 times. In the morning she got up
cranky and crying when her mother woke her up. At
daytime, she looked sleepy and sometimes fell
asleep during playtime. She also got tired easily and
then got cranky. She took a nap for around 2 to 3
hours. Her snoring got worse if she had upper
respiratory infection, and she woke more frequent at
night.
On physical examination, the girl appeared ill,
was inactive and pale, and presented sparse, thin hair.
She seemed to have slow reaction time and trouble
in paying attention.
For the neuromuscular examination, there were
no upper motor neuron sign. The muscle seemed
hypotrophy and felt hypotonus. There were
hyperlaxity on both extremities but there were no
deformity. Heart examination showed normal result.
She produced harsh sounds when she breathed.
Her height and weight was <5th centile, as
measured for age and sex according to Down
syndrome growth charts (Figure 2).
Figure 2: Down syndrome growth chart.
No other changes were observed on systemic
examination, except for the physical features of
Down syndrome (slanting eyes, epicanthic folds,
high-arched palate and protruding tongue).
Echocardiography result was normal. The thorax
radiology was on normal appearance.
Patient was also diagnosed for sensory
processing disorder after filling the sensory profile
questionnaire. She had tactile disorder on the
registration and sensitivity quadrant. Right now she
was on sensory integration program.
She also had adenoid hypertrophy. From the
FEES on August 22
nd
, 2019 there were adenoid
hypertrophy 90% and oral phase mechanical
dysphagia. From psychological examination, it was
obtained that she had severe intellectual disability,
Intellectual Quotient 25-35.
Patient already got neurodevelopmental therapy
for 3 months. She used bicycle and walking by
pushing chair to strengthen her lower extremities.
The mother was told to do neurodevelopmental
therapy every day; 3 times per day for
approximately 20 minutes and strengthening
exercise every day, 3 times per day for 20 minutes.
Rehabilitation in Down Syndrome Patient with Malnutrition, Sensory Processing Disorder, Obstructive Sleep Apnea: A Case Report
141

3 RESULTS
Using a sample of blood, this test analyses the
child's chromosomes. If there's an extra chromosome
21 in all or some cells, the diagnosis is Down
syndrome. In this case, the patient has the traits
appearance and confirmed by the chromosomes
evaluation (Figure 3).
Figure 3: Chromosomal analysis.
In this patient, for the gross motor function, she
still cannot walk by herself by the age of four but
she already can walk by holding to the wall. For
children with Down syndrome the difficulty in
walking could be due to hyperlaxity and
hypotonicity. For the delayed walking ability
compared with Down syndrome milestone can be
caused by comorbid condition such as malnutrition.
Although this patient had severe cognitive
impairment but the impairment does not
significantly correlate with the late of gross motor
function. Seong et al, 2017, could not find a
statistically significant correlation between the
achievement of motor milestones and cognitive
functions (Kim et al., 2017). Right now, she still
could not walk by herself but could stand up and
walk by holding to something.
After receiving 3 months of therapy that include
strengthening therapy and neurodevelopmental
therapy, the progress obtained in this patient was
poor. Within three months, she only could stand by
holding to the wall.
The patient also had sensory processing disorder
with hypersensitivity in tactile and vestibular in
registration quadrant. From literature, Down
syndrome patient had significant challenges in the
categories of low energy, weak, under-responsive,
seeks sensation, auditory processing, and tactile
sensitivity (Bruni et al., 2010). This patient had
intolerance to several food texture, picky eater, only
ate soft textured food such as porridge. She also did
not like being hugged by other people except her
mother, she could not tolerate her own hair touching
her face. This sensory processing disorder worsened
the feeding problem.
In this patient, she snores when sleeping, easily
sleepy at daytime and always cranky when gets up in
the morning. After FEES examination, it was found
that there is 90% adenoid hypertrophy. These
findings will contribute to sleep breathing disorder
symptoms. Clinical manifestation of daytime
sleepiness will interferes her learning ability as will
reduce attention, memory and mood to do activities,
therefore stimulation time that can be done daytime
reduced. Consultation to ENT-HN specialist is
needed to know if there’s indication for
tonsiloadenoidectomy surgery in this patient as it
can be a focus infection for frequent upper
respiratory tract infection.
Positioning is an important thing to do for this
patient, the mother should keep in mind to keep her
upright when feeds her and one hour after feeding to
prevent reflux that will worsen adenoid hypertrophy.
Sleeping position also should be evaluated, since she
also has relative macroglossia and sleeping in supine
position will be a risk for upper airway obstruction
during sleep, so sleeping in prone or side lying will
be better for her.
4 DISCUSSION
Children with Down syndrome has delays in all area
of development. For gross motor development,
children with Down syndrome will have the same
sequence of development compared with other
healthy equals but will take a longer time to achieve
it. We use Down syndrome developmental chart for
the patient. In this study we found that she has
delays according to Down syndrome chart.
The possible factors that could cause this
problem are the malnutrition state, the adenoid
hypertrophy, the obstructive sleep apnea, and also
could be cause by the low education of the mother.
This patient also had sensory processing disorder
in tactile and vestibular registration and sensitivity.
Sensory processing disorder, especially in tactile
area also affected the malnutrition. It is because in
patient with tactile registration sensory processing
disorder, the child will feel very uncomfortable if
there were food in her mouth. This condition worsen
the intake and as the result, it will worsen the
malnutrition.
KONAS XI and PIT XVIII PERDOSRI 2019 - The 11th National Congress and The 18th Annual Scientific Meeting of Indonesian Physical
Medicine and Rehabilitation Association
142

The patient already got neurodevelopmental
therapy and strengthening exercise for the lower
extremities. After three months, there were only
small progress, the child was able to stand with
support. Neurodevelopmental therapy is a manual
and rehabilitative approach to optimize the
movement system based upon the scientific
principles of developmental kinesiology. It brings
the supporting joints and segments into a
functionally aligned position. If one muscle is
dysfunctional (weak), the entire stabilizing
function is disturbed and the quality of the
movement is compromised. Rehabilitation
programs in this patient after three months show
poor progress.
We need to evaluate what causes the poor
progress. The first possible cause could be the
mother was not giving adequate dose of exercise. It
was told that the child should do the
neurodevelopmental therapy three times per day for
20 minutes and strengthening exercise three times
per day for 20 minutes. The mother said the child
could not do the exercise that being told because the
child was being uneasy and cranky after a short time
of exercise.
Other possibilities that could cause the slow
progress in this patient was due to the adenoid
hypertrophy. Patient already underwent FEES
examination and from that examination we found
90% of occlusion. It could cause inadequate
oxygenation into the patient’s organ, including the
brain. And as the result the brain cells could not
grow optimally.
In the other hand, adenoid hypertrophy reaching
90% of occlusion and macroglossia in this patient
caused obstructive sleep apnea. Obstructive sleep
apnea causes improper oxygenation during sleep yet
during normal sleep, growth hormone is produced.
And if patient did not get good sleep, in the morning
and afternoon during the therapy, she will easily
become fatigue. Thus, therapy would be inadequate.
Patient already suggested for adenoidectomy by
the ENT department. And to prevent the obstructive
sleep apnea, the patient was suggested to sleep in
side lying positon or in prone position.
The limitations of this study is the short period of
observation. The patient used the NGT after being
told the usefulness nutrition for the child
development.
In conclusion, the patient had Down syndrome
with several comorbidities. The Down syndrome
itself causes delay in development and the
comorbidities make it worst. We need to find and
manage the comorbidities, work together with other
field so that our therapy could give the optimal result
for the patient.
REFERENCES
Bruni, M. et al. 2010. ‘Reported sensory processing of
children with down syndrome’, Physical and
Occupational Therapy in Pediatrics, 30(4), pp. 280–
293. doi: 10.3109/01942638.2010.486962.
van Dijk, M. and Lipke-Steenbeek, W. 2018. ‘Measuring
feeding difficulties in toddlers with Down syndrome’,
Appetite. Elsevier, 126(March), pp. 61–65. doi:
10.1016/j.appet.2018.03.018.
Ivan, D. L. and Cromwell, P. 2014. ‘Clinical practice
guidelines for management of children with down
syndrome: Part II’, Journal of Pediatric Health Care.
Elsevier Ltd, 28(3), pp. 280–284. doi:
10.1016/j.pedhc.2013.05.003.
Kazemi, M., Salehi, M. and Kheirollahi, M. 2016. ‘Down
syndrome: Current status, challenges and future
perspectives’, International Journal of Molecular and
Cellular Medicine, 5(3), pp. 125–133.
Kim, H. I. et al. 2017. ‘Motor and cognitive
developmental profiles in children with down
syndrome’, Annals of Rehabilitation Medicine, 41(1),
pp. 97–103. doi: 10.5535/arm.2017.41.1.97.
Myrelid, Å. et al. 2002. ‘Growth charts for Down’s
syndrome from birth to 18 years of age’, Archives of
Disease in Childhood, 87(2), pp. 97–103. doi:
10.1136/adc.87.2.97.
Wardah.2019. ‘Sindrom Down’. Jakarta: Kementrian
Kesehatan RI. Available at:
http://www.depkes.go.id/resources/download/pusdatin
/infodatin/infodatin down syndrom 2019.pdf.
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