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28 INTERNATIONAL MEDICAL JOURNAL ON DOWN SYNDROME 2008: vol. 12, number 2, pp. 28-322
*Paper presented orally at the Family Education and Food-for-Thought Meetings. Fundació Catalana Síndrome de Down. February 2008.
SD-DS
2008: vol. 12, number 2, pp. 28-32 INTERNATIONAL MEDICAL JOURNAL ON DOWN SYNDROME 29
that surrounds them through movement and in timing, and movement quality; in other words,
this process they learn to recognize their they essentially affect how a child moves.
capacities and the limitations of the body. Muscle tone, which is the tension in a muscle
The motor development of children with when it is in the resting state, is controlled by the
Down syndrome (DS) is marked by a delay in brain. Lowered muscle tone, called hypotonia,
achieving gross and fine motor milestones. affects children with DS in different ways, and
means that they have greater difficulty in motor
learning. Hypotonia also means that the muscles
1.1 Factors affecting psychomotor are incapable of sufficiently stabilizing the joint
development in children with Down structures, making it more difficult to achieve
syndrome balance and coordination of movements.
Like hypotonia, ligament laxity is present
The etiology of delayed motor development in from birth and this fact explains why motor
children with DS derives basically from development is delayed in children with DS.
structural factors that are common in DS but Hypotonia may exist in different degrees:
specific to each individual. These factors marked, moderate, and mild. The age of onset of
include: walking depends on the degree of hypotonia
(Table I).
– Brain-related characteristics Low muscle tone, extreme ligament laxity,
– Musculoskeletal disorders and joint instability all provide anomalous
– Associated medical problems. proprioceptive inputs to the thalamus, negatively
affecting the motor development of the child
1.1.1. Brain-related characteristics with DS.
The fact that soft tissues in the joints have a
The genetic overload arising from the diminished restraining effect results in increased
presence of an extra chromosome 21 produces a joint instability. The joints most affected are
generalized and diffuse imbalance in the brain those that continuously support the greatest
of persons with DS. The different anomalies that loads (hips, knees, and feet) or experience the
have been observed include a reduction in the greatest mobility (the atlantoaxial joint). This
number of certain types of neurons located in lack of soft-tissue restraint and consequent joint
the cerebral cortex, an alteration in the structure instability is the reason why children with DS
of dendritic spines and a reduction in their have trouble maintaining their balance.
number, a reduction in the size of certain areas
and nuclei of the brain, and less efficient 1.1.3. Associated medical problems
biochemical organization.
These disorders modify a child’s capacity to People with DS have a tendency to develop
transmit information. The particular brain medical problems that interfere with their
structure of children with DS means that they development. The most frequent disorders are
are slower at taking in, processing, interpreting, heart and respiratory disorders, visual and
and elaborating information, and this is one of auditory deficiencies, digestive and hormonal
the underlying reasons for delayed motor alterations, and epilepsy (Table II).
development.
1.2. Specific movement patterns in children coordination and balance. They thus tend to
with Down syndrome develop movement patterns that compensate for
lack of strength, joint instability, and limb
The motor development of children with DS shortness (Table III).
is characterized by delayed achievement of
development milestones in terms of gross and
fine motor skills, visual control, speed, muscle 2. Early intervention physiotherapy
strength, and balance. for children with Down syndrome
The typical posture of the child with DS a
nd hypotonia is legs in abduction, external Early intervention is defined as the set of
rotation, and flexed knees. This posture affects development actions aimed at children aged 0 to
the child’s way of moving as it becomes habitual 6 years, their families, and significant others in
to the point of being maintained in postural order to respond as early as possible to transient
changes. or permanent needs in children with
Appropriate motor skills are not just development disorders or at risk of developing
functional but also ensure suitable movement such disorders as a consequence of organic,
patterns. Although children with DS may repeat psychological, or social problems. Early
motor patterns that are functional, these are intervention needs to take into account the
often inappropriate and are likely to produce overall situation of the child and so should be
alterations in musculoskeletal structures. planned by an interdisciplinary team of
Children with DS often display compensatory professionals.
patterns, with a lack of dexterity that is the result In Catalonia, early intervention is offered by a
of the presence of more or less marked network of child development and early
hypotonia, ligament laxity, and poor intervention centers (Centres de
Desenvolupament Infantil i Atenció Precoç, or
CDIAP). This public, universally accessible
Table II
network offers its services free of charge to all
Motor development milestones for children with or without infants aged less than 6 years. Operated
associated conditions (age in months). according to a management model that applies
efficiency and quality criteria, the centers are
Milestone Healthy Children with
children associated run by both public and private entities and are
conditions funded by means of regularly renewed financial
Aligns the head in a face
agreements.
down lying position 2.29 4.15
Is stable when seated 9.64 10.72 Aligns the head in a face-down lying position 2.7 months
Vertically controls the head 4.4 months
Moves unassisted to a seated Pulls to sit 6.0 months
position 14.94 17.61
Shows support reactions 8.3 months
Stands with support 12.15 16.00 Is stable when seated 9.7 months
Stands 13.3 months
Moves to a standing position Rolls over 8.0 months
with support 18.02 20.27 Commences independent locomotion 12.2 months
Drags 13.6 months
Commences independent
locomotion 11.5 14.0 Crawls 17.7 months
Shuffles 17.9 months
Walks independently 22.76 27.40 Walks independently 24.1 months
Study conducted by Drs. Pilar Póo and Rosa Gassió, Neur pediatrics Study conducted by Drs. Pilar Póo and Rosa Gassió, Neur pediatrics
Department of the Hospital St. Joan de Déu, Barcelona 2000. Department of the Hospital St. Joan de Déu, Barcelona 2000.
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2008: vol. 12, number 2, pp. 28-32 INTERNATIONAL MEDICAL JOURNAL ON DOWN SYNDROME 31
The first child development and early The child can be expected to be particularly
intervention centres were opened in Catalonia in receptive for a time span that will vary
1970. The terminology used then was ‘early depending on age, intellectual potential and
stimulation’ and the therapeutic care offered to concentration capacity. The emergence of
children with specific disabilities was aimed at appropriate motor responses requires that the
reducing the effects of the disability. This child adopt positions in which he or she feels
concept was both restrictive and overly centered physically comfortable, be willing to tackle the
on the disability, resulting in a therapeutic difficulty implied by the therapy, and be capable
attitude that focused exclusively on the of learning through play.
symptoms rather than on the subjects Physiotherapy offers children the possibility
themselves. In other words, emphasis was of experiencing appropriate movements, by
placed on techniques rather than on persons. helping children learn optimal movement
Present practice is referred to as ‘early patterns and ensuring that they do not adopt
intervention’. Under this approach, different poorly aligned postural patterns. Physiotherapy
specialists in an interdisciplinary team also provides parents with guidelines on
contribute with their specific knowledge to preventing unsuitable postures in their children.
developing a shared interpretation of the Postural control ultimately has a positive impact
symptoms. In this case, the child and the family on function. Children with DS often move using
are central to the process, and the perspective is anomalous patterns (e.g., shuffling or sitting up
one in which the child plays a key role in his or from a lying position with the legs opened too
her own development process. In planning the wide), sothe role of the physiotherapist is to
intervention, account is taken not just of the guide a child’s movement by facilitating
specific disorder or disability, but also of all appropriate movement, enabling the child to
aspects of the child’s developmental stage and experience correct patterns, and fostering
needs. correct proprioception.
The main aim of early intervention is to Insoles enable good alignment and so
optimize and support children’s development facilitate appropriate patterns and
processes by developing their capacities so that proprioception. These supports should not be
they have every opportunity to develop their prescribed too early, however, as the foot should
potential to the maximum. Rather than focusing be allowed to strengthen its muscles naturally.
on accelerating development, the physiotherapy It should also be borne in mind that a pattern
provided by the CDIAP to children with DS is of movement (such as shuffling) is sometimes
basically preventative. transient; consequently, a child should not be
Physiotherapy focuses on training that denied such movements, given that they
facilitates movement. Movement is ultimately represent an expression of the desire to move.
function—and function in the case of children is It is also important to bear in mind the
represented by play. Therapeutic objectives for individuality of each child, given that, although
children with DS are achieved by their active many children may have the same diagnosis,
participation in play. Play helps children each one is ultimately different and has different
develop their mobility potential and extrapolate needs. Early intervention should be applied
this mobility to other situations in day-to-day according to the specific characteristics and
routines. needs of a child. Intervention of a generalized
Physiotherapy requires participation and nature is not appropriate for children with DS, as
effort from the child. However, in motor both genetic and environmental factors –which
learning a balance has to be struck between play are different for each child– play a part in
and therapeutic aim. Motor, visual, and psychomotor development.
perceptive difficulties may prove an obstacle to In regard to genetic factors, hypotonia means
play, and the role of the physiotherapist is to that a child’s attitude to movement is somewhat
help the child develop the necessary motor passive. Physiotherapy deals with hypotonia by
control. helping children to be more dexterous in their
SD-DS
32 INTERNATIONAL MEDICAL JOURNAL ON DOWN SYNDROME 22008: vol. 12, number 2, pp. 28-32