Gross Motor Development of a Child Born

at 27-Weeks Gestation with Down

Syndrome-A Case Report

Colleen Jones, SPT
Carroll University
Doctor of Physical Therapy Program













Abstract

Background and Purpose
Down syndrome (DS) is a genetic condition that results in both cognitive and motor delays. The disorder
has a significant impact on the functioning and development of the central nervous system. Another
condition that is known to be the cause of motor delays is preterm birth. The purpose of this case
report is to describe the motor development of a child that was born at 27-weeks gestation and has
Down syndrome.
Case Description
The patient was a 6-year-old boy who was born at 27-weeks gestation and had Down syndrome. He
weighed 2 pounds 7 ounces at birth and had significant medical complications. The patient was
receiving occupational, physical, and speech therapy. The familys goals for physical therapy were for
him to be able to safely move about the school setting.

Outcomes
The patient consistently showed deficits in motor skills as compared to his typically developing peers but
also as compared to other children with DS. Clinically important observations at age 6 included his
inability to consistently alternate feet when ascending or descending stairs, inability to acquire a true
run pattern, and inability to achieve a two footed jump.

Discussion
It is clear that this patient being affected by both DS and preterm birth significantly impacted his motor
development. It is difficult to determine or predict what the future holds for this individual as he is not
following a typical path, however the motor gains that he has made are promising.












Background and Purpose
Down syndrome (DS) is a genetic condition that results in both cognitive and motor delays. The disorder
affects chromosome-21 and has a significant impact on the functioning and development of the central
nervous system and continues to affect brain development throughout childhood.
1
The prevalence of
DS in the United States is approximately 1.36 per 1000 live births.
2
It has been well documented that
children affected with DS have significantly delayed cognitive and motor milestone acquisition. For
example, children with DS typically begin independent walking at 24 months of age whereas a typically
developing child generally walks around 12 months of age.
3
These gross motor delays can be in part due
to similar characteristics that are present across the DS population such as low muscle tone,
ligamentous laxity, poor postural control and poor balance.
3
There are multiple texts that suggest the
typical ages at which motor milestones are acquired for children with DS, however these can vary widely
and depend on the individuals status and related conditions.
Another condition that is well known to be the cause of motor delays is preterm birth. With the medical
advances in recent decades, more preterm and very preterm infants are surviving. For the
neurologically intact preterm infant, it has been well documented that they are more delayed in their
motor development compared to full term peers. This motor delay tends to be seen in the first 18
months of life and otherwise healthy preterm infants seem to catch up with their peers by 24-36
months.
4
Kilbride et al suggests that infants that are extremely low birth weight (less than 800g) still
show motor and cognitive deficits as compared to their full term siblings at age 5.
5
In this case, the
patient weighed approximately 1100 grams therefore this study may not be directly generalizable.
However it is stated that when attempting to define the independent contribution of prematurity on
outcome, investigators simply compare preterm infants with full term infants. Results are on a
continuum with the lowest birth weight children scoring lower in cognitive and motor function than
heavier preterm infants and full term infants.
5
As previously stated, much is known about both preterm
birth and Down syndrome, however when the two conditions affect the same child the outcomes are
more ambiguous. It is important to know typical motor development and developmental delay in both
of these populations in order to determine what plan of care needs to be established. Norm values help
to define the average and standard deviation of age at motor skill acquisition therefore helping to define
functional limitations and direct the treatment plan. They also provide for objective measurements to
track progress or lack thereof in order to reassess the treatment plan. Clinicians sometimes use this
data to predict long-term outcomes based on the childs rate of skill acquisition as well. Although there
is data to describe these norm values for preterm infants and children with Down syndrome separately,
there is no consensus on how these conditions can impact an individual in conjunction with one
another. The purpose of this case report is to describe the motor development of a preschool age child
that was born at 27 weeks gestation and has a diagnosis of Down syndrome.
Patient History and Review of Systems
The patient was a 6-year-old boy who was born at 27-weeks gestation and had a diagnosis of Down
syndrome. He weighed 2 pounds 7 ounces at birth and had significant medical complications that
necessitated supplemental oxygen. The patient has two older siblings that are typical developing. He
was able to return home under care of his parents and has had a history of seizures and occasional need
for supplemental oxygen secondary to low saturation particularly when he was ill throughout his
childhood. At the age of six, the patient was attending school part-time with a combination of time
spent in regular education and special education classrooms. He attended one full day in the week and
four half days with the majority of time in the special education rooms. The patient was receiving
individual occupational therapy, physical therapy, and speech therapy 30 minutes per week out of the
classroom as well as attending a physical/speech therapy group session in his classroom 1 hour per
week. The familys goals for physical therapy were for him to be able to safely move about the school
setting and to be able to integrate with his regular education peers as much as possible. Written
informed consent was obtained from the patients mother.
Examination
The patient had been receiving physical therapy services since birth from the state run, birth to three
program. When he began attending school, services changed to school-based therapies. Consistently
throughout his physical therapy services, his motor development was measured using the Peabody
Developmental Motor Skills-2 (PDMS-2). This early childhood motor development program contains six
subtests that assess the motor skills of children from birth through 5 years. The subtests can be used
independent of one another and include reflexes, stationary, locomotion, object manipulation, grasping,
and visual-motor integration. This tool is often used as it is relatively simple to administer, is
inexpensive and has validated outcomes. It gives values in standard scores, percentile ranks, and age-
equivalents which are easy for parents and other team members to understand. According to Van
Waelvelde, the PDMS-2 is an appropriate test to use for children with physical disabilities as it is less
sensitive to mild motor impairments.
6
The gross motor quotient (GMQ)test-retest reliability for this
scale is reported to be r=0.84, interrater r=0.97, and internal consistency (Cronbachs alpha) r=0.97
between 2 and 11 months. The concurrent validity is r=0.84 between 1 and 11 months.
7
One study
suggested that the Gross Motor Function Measure (GMFM) could also be a good tool to evaluate
children with Down syndrome. Although originally developed for use with children with cerebral palsy,
the study validated outcomes of the GMFM with modifications and helpful strategies for application
with children in the DS population. These strategies are proposed to allow for greater adherence to
standardized procedures which would contribute to the ability to rely on tests results when comparing
previous assessments in order to track progress more objectively.
8
During the patients most recent re-assessment the following was documented in his individualized
education plan. He was walking throughout school on level surfaces and some uneven surfaces such as
grass and woodchips. He still hesitated when walking on inclines and declines but was now able to
navigate around obstacles without loss of balance. He maintained an abnormal gait pattern frequently
striking with a flat foot and vaulting over his toes. As he attempted to walk faster, his arms tended to
move into a high guard position and there was little disassociation between his lower extremities and
his trunk. He was also now able to jump down from a 7 inch mat with a 2 footed take-off and landing.
The patients ball skills had also improved. He was able to hit a 2 foot by 2 foot target with a tennis ball
and underhand throw 2 of 3 times from approximately 5 feet and with an overhand throw from
approximately 12 ft, 2 of 3 times. The patient was able to catch a playground ball from 5 feet and a
tennis ball from 3 feet using his arms and chest to trap the ball. These skills were still not at his age level
however he was continually showing improvements in his locomotion and object manipulation skills.
Following this evaluation, it was recommended that the patient begin participating in regular physical
education (PE) with an aide for assistance. He would be able to safely participate and get some more
time with his regular education peers in this setting. Object manipulations skills were a strength for the
patient and with some extra help for direction following, he should be able to be successful in regular PE
as opposed to adapted PE.
Clinical Impression
The primary problem in this case from a physical therapy aspect was the patients delayed motor skills.
He exhibited poor balance for a child his age and also had very poor ball skills. He was observed to
revert back to a high guard position whenever he was participating in a more difficult activities such as
walking over or under obstacles or when walking on small inclines and declines . He often looked for
external support including the ground or a hand hold in order to increase his stability. This patient was a
good candidate for this case report as he had the unique dual diagnosis of prematurity and Down
syndrome and his gross motor development pattern was not following a typical pattern even for
children with DS.
Outcomes
Information was gathered retrospectively via therapy evaluations and daily notes and IEPs. Table 1
describes some motor milestones that have been defined along with the typical age that the skill is
acquired in children with DS and compares it to the patient in this case. Table 2 describes outcomes
based on the PDMS-2. At 13 months, the patient was still collapsing into flexion with sitting while age
matched peers were sitting independently and beginning to walk. He could roll in all directions but was
inconsistent with skills at the 2-4 month level. At 33 months, he had gross motor skills at a 8-10 month
level. At 45 months the patient was in school and required minimal assistance to ambulate 50 feet
without loss of balance 75% of the time. He still preferred and was most stable with two hand hold
assist. At 57 months, he was able to ambulate 200+ feet with upper extremities in high guard and
scored at the 14 month level on the PDMS-2 for locomotion and 15 month level for object manipulation.
At 65 months, the patient scored an overall gross motor quotient at 1% at the age equivalent of 21
months and poor to very poor range as compared to his same aged peers.
The patient consistently showed deficits in motor skills as compared to his typically developing peers but
more importantly he was also delayed as compared to other children with Down syndrome. Clinically
important observations at age 6 included his inability to consistently alternate feet when ascending or
descending stairs, inability to acquire a true run pattern as he lacked time with both feet off the ground
and inability to achieve a two footed jump to clear the floor. Although these deficits were remarkable,
interview with the care team (OT, SLP, and classroom teacher) revealed that the patient had made a
great deal of clinically important progress since beginning school. When he first began attending school
at age 3-4, he was still being carried into the school by his mother and could walk only very short
distances and demonstrated poor balance. At age 5, he was able to walk independently but would often
trip while walking around objects in the classroom and maintained high guard the majority of the time.
Now, at age 6, he was ascending and descending stairs with a rail and stand by assist and was walking
throughout school and on the playground with much better balance. When asked to perform higher
level skills such as running or walking up/down/over small obstacles, he would revert back to a high
guard position and had to be cued frequently to walk with toes up as his gait pattern showed
decreased dorsiflexion at initial contact and bilateral knee hyperextension. He was a cooperative
participant in therapy sessions and enjoyed the higher energy activities.
Discussion
It is clear that this patient being affected by both DS and preterm birth has not reached the motor
milestones that others with one of those conditions alone most likely would have. Although research
shows that there is greater variability within children with DS than within the typical population, this
patient still falls in the poor range for his motor development. It is difficult to determine or predict what
the future holds for this individual as he is not following a typical path, however the gains that he has
made, although slower in rate, are promising that he will continue to increase his gross motor skills.
According to previous research to determine the independent affects of prematurity, preterm infants
were compared to full term infants.
4
In this case, perhaps it is reasonable to propose that the affects of
prematurity can be determined when outcomes are compared with the norm values of functioning of
full term children with DS. Because quality evidence is lacking to describe best practice in regards to
cases such as this, some research that is being done on behavioral phenotype may be able to benefit
similar cases. The research states that the Down syndrome behavioral phenotype includes relative
strengths in some aspects of visiospatial processing and social functioning and relative deficits in verbal
processing and gross motor functioning.
10
One study reported specific motor impairments for children
with DS that were 10 to 16-years-oldsuch as precise movements of limbs and gross motor activities such
as sit-ups and push-ups. However, the same study reported that in other aspects such as running speed
and agility, the children with DS could be at their chronological age level.
11
Yet another study compared
toddlers with DS, other genetic disorders and typically developing children in a number of domains. The
DS population again showed relative strengths in visual processing and receptive language and relative
weaknesses in expressive language and gross motor skills. These findings correlated with parental
reports of strengths in socialization and weaknesses in communication and motor skills.
10
This study
showed that the DS behavioral phenotype begins to emerge by the age of 2-years-old. The divergence
between strengths and weaknesses are relatively small in the early stages of development but continue
to grow farther apart as the child increases in age. Thus, the author proposes that if potential
weaknesses are identified early on while the range between strengths and weakness is still small, that it
may be possible to create more optimal pathways for those weaknesses in order to facilitate the least
amount of impairment. It is also thought that if the behavioral phenotype is better understood that it
can help to shape appropriate interventions that are employed in expectation of a certain
developmental pathway rather than waiting for the impaired pattern to be realized and then addressing
it.
10
This theory may have been helpful to identify the patient in this case studys impaired patterns
earlier in life. However, with the condition of preterm birth also in the equation, the importance of
focusing on each individual as a whole becomes even more important. His complex medical conditions
including history of seizures and continued oxygen supplementation on occasion may also play a role in
his motor development delay.
It will continue to be important to conduct scientifically sound research on populations similar to this
case in order to better understand the best treatment options available. Specifically, research focused
on school-based pediatric physical therapy and what interventions are most effective for gross motor
delays would be a great help to therapists working in this setting. Also research based on the emerging
behavior phenotype of children with DS would be beneficial because if it is possible to predict emerging
patterns of movement as a child ages, then it may be possible to preemptively reduce those impaired
patterns impact on the childs function.
Conclusion
In conclusion, the patient in this case had a dual diagnosis of preterm birth and Down syndrome. These
two conditions alone can be the cause of cognitive and motor delay and when combined appear to have
an even more severe impact on a childs gross motor development. The child in this case continues to
progress in his functional skills at school however he remains significantly behind his typical peers and
even other children with DS. Continued therapy services will be provided in the school setting and it will
be interesting to note the long-term outcomes of this unique case.










References
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Activity Child with DS (age in
months)
Patient Case (age in
months)
Independent Sitting 11 +/- 4 20
Walking 15 feet without hand support 26 +/- 9 43
Walks up and down 4-in curb without
hand support
36 +/- 12 59
Jumps 47 +/- 12 Unable at 72
Walks up stairs marking time holding the
rail
39 +/- 9 65
Walks down stairs marking time holding
rail
40 +/- 10 65
Walks up stairs holding rail alternating feet 56 +/- 10 50% of time at 72
Walks down stairs holding rail alternating
feet
81 +/- 21 Unable at 72
Table 1. Description of age at acquisition of some motor milestones for a typical child with DS and the
patient from this case.
9


Peabody Developmental Motor Skills-2
Age (months) Age Equivalent (months)
13 2-4
33 8-10
57 14-15
65 22
Table 2. Description of scores on the PDMS-2 and comparison to the age equivalents.